diff --git "a/BioMedGraphica-Conn/Entity/Disease/BioMedGraphica_Conn_Disease_LLM_Name_ID_Combined.csv" "b/BioMedGraphica-Conn/Entity/Disease/BioMedGraphica_Conn_Disease_LLM_Name_ID_Combined.csv" new file mode 100644--- /dev/null +++ "b/BioMedGraphica-Conn/Entity/Disease/BioMedGraphica_Conn_Disease_LLM_Name_ID_Combined.csv" @@ -0,0 +1,22430 @@ +BioMedGraphica_Conn_ID,BioMedGraphica_ID,Names_and_IDs +BMGC_DS00001,BMG_DS000001,"Apolipoprotein B deficiency | SNOMEDCT ID:190787008 | ABL - Abetalipoproteinemia | MONDO:0008692 | Hypolipoproteinaemia, unspecified | OMIM ID:MTHU014871 | Homozygous familial hypobetalipoproteinemia | ICD11 ID:5C81.Z | ABL - Abetalipoproteinaemia | DOID:1386 | ICD10 ID:E78.6 | Homozygous familial hypobetalipoproteinaemia | abetalipoproteinemia | MeSH ID:D000012 | OMIM ID:200100 | SNOMEDCT ID:83123000 | Abetalipoproteinemia | Abetalipoproteinaemia | Bassen-Kornzweig disease | Abetalipoproteinemia (disorder) | UMLS ID:C0000744" +BMGC_DS00002,BMG_DS000002,gastrin secretion abnormality | Abnormality of secretion of gastrin | UMLS ID:C0000774 | Abnormality of secretion of gastrin (finding) | MONDO:0001770 | DOID:13656 | SNOMEDCT ID:47344007 +BMGC_DS00003,BMG_DS000003,"UMLS ID:C0000809 | MeSH ID:D000026 | habitual spontaneous abortion | Abortion, Habitual | MONDO:0006774" +BMGC_DS00004,BMG_DS000004,ICD11 ID:JA03 | SNOMEDCT ID:156087000 | Silent miscarriage | UMLS ID:C0000814 | SNOMEDCT ID:198616002 | Missed abortion | Missed abortion (disorder) | SNOMEDCT ID:267187007 | MA - Missed abortion | SNOMEDCT ID:16607004 | Missed miscarriage | ICD10 ID:O02.1 +BMGC_DS00005,BMG_DS000005,UMLS ID:C0000821 | DOID:9667 | placental abruption +BMGC_DS00006,BMG_DS000006,"MeSH ID:D000034 | UMLS ID:C0000823 | Abortion, Veterinary" +BMGC_DS00007,BMG_DS000007,placental abruption | MONDO:0004846 | UMLS ID:C0000832 +BMGC_DS00008,BMG_DS000008,Abscess (morphologic abnormality) | abscess | MONDO:0005227 | MeSH ID:D000038 | Abscess morphology | SNOMEDCT ID:128477000 | Abscess (disorder) | SNOMEDCT ID:44132006 | UMLS ID:C0000833 | Abscess +BMGC_DS00009,BMG_DS000009,MONDO:0005629 | UMLS ID:C0000880 | MeSH ID:D015823 | Acanthamoeba Keratitis | Acanthamoeba keratitis +BMGC_DS00010,BMG_DS000010,Acanthosis Nigricans | MONDO:0007035 | UMLS ID:C0000889 | acanthosis nigricans | DOID:3138 | MeSH ID:D000052 +BMGC_DS00011,BMG_DS000011,achlorhydria | UMLS ID:C0001075 | MONDO:0043465 +BMGC_DS00012,BMG_DS000012,MONDO:0019648 | UMLS ID:C0001079 | achondrogenesis +BMGC_DS00013,BMG_DS000013,MONDO:0007037 | DOID:4480 | OMIM ID:100800 | achondroplasia | Achondroplasia | UMLS ID:C0001080 +BMGC_DS00014,BMG_DS000014,acidosis disorder | MONDO:0006022 | UMLS ID:C0001122 +BMGC_DS00015,BMG_DS000015,"MeSH ID:D000140 | DOID:3650 | UMLS ID:C0001125 | Acidosis, Lactic | lactic acidosis | MONDO:0006040;MONDO:0024306 | acquired lactic acidosis" +BMGC_DS00016,BMG_DS000016,OMIM ID:MTHU006717 | MONDO:0001909 | Renal tubular acidosis | Renal tubular acidosis (disorder) | UMLS ID:C0001126 | renal tubular acidosis | Renotubular acidemia | DOID:14219 | Renotubular acidaemia | SNOMEDCT ID:1776003 | RTA - Renal tubular acidosis +BMGC_DS00017,BMG_DS000017,"UMLS ID:C0001127 | Acidosis, Respiratory | MeSH ID:D000142" +BMGC_DS00018,BMG_DS000018,UMLS ID:C0001139 | MONDO:0006635 | Acinetobacter infectious disease | Acinetobacter Infections | MeSH ID:D000151 +BMGC_DS00019,BMG_DS000020,Acne Vulgaris | UMLS ID:C0001144 | MeSH ID:D000152 +BMGC_DS00020,BMG_DS000022,vestibulocochlear nerve disorder | MeSH ID:D000160 | vestibulocochlear nerve disease | MONDO:0001563 | UMLS ID:C0001163 | Vestibulocochlear Nerve Diseases | DOID:12657 +BMGC_DS00021,BMG_DS000024,MONDO:0012268 | UMLS ID:C0001175 | AIDS | acquired immunodeficiency syndrome | DOID:635 | MeSH ID:D000163 | Acquired Immunodeficiency Syndrome +BMGC_DS00022,BMG_DS000025,Apert syndrome | OMIM ID:101200 | MONDO:0007041 | UMLS ID:C0001193 +BMGC_DS00023,BMG_DS000026,DOID:2722 | MeSH ID:D000169 | SNOMEDCT ID:8197001 | Acrodermatitis (disorder) | MONDO:0006523 | Acrodermatitis | acrodermatitis | UMLS ID:C0001197 +BMGC_DS00024,BMG_DS000028,"SNOMEDCT ID:267480001 | Gigantism and acromegaly | MeSH ID:D000172 | Acromegaly (disorder) | Acromegaly and gigantism | STH hypersecretion syndrome | SNOMEDCT ID:74107003 | Acromegalia | acromegaly | DOID:2449 | Growth hormone hypersecretion syndrome | Marie disease | Anterior pituitary hyperfunction | Gigantism | OMIM ID:MTHU016146 | MONDO:0019933 | UMLS ID:C0001206 | Acromegaly | SNOMEDCT ID:154698000 | Anterior pituitary adenoma syndrome | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) (disorder) | Pituitary hyperfunction (ant.) | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.)" +BMGC_DS00025,BMG_DS000029,Hypersomatotropic gigantism | SNOMEDCT ID:86073008 | Hypersomatotropic gigantism (disorder) | UMLS ID:C0001207 | Launois syndrome | Acromegalic gigantism | Pituitary gigantism +BMGC_DS00026,BMG_DS000030,"UMLS ID:C0001231 | ACTH Syndrome, Ectopic | ectopic ACTH secretion syndrome | MeSH ID:D000182 | MONDO:0043472" +BMGC_DS00027,BMG_DS000034,Erythrasma | Actinomycotic infections | DOID:8478 | (Actinomycosis (& [infections]) or (erythrasma) (disorder) | Actinomycosis | SNOMEDCT ID:266185008 | MONDO:0005631 | Actinomycotic infection | ICD10 ID:A42 | (Actinomycosis (& [infections]) or (erythrasma) | SNOMEDCT ID:11817007 | SNOMEDCT ID:154314007 | MeSH ID:D000196 | actinomycosis | Actinomycotic infection (disorder) | SNOMEDCT ID:50508009 | Actinomycosis (disorder) | UMLS ID:C0001261 +BMGC_DS00028,BMG_DS000035,Abdominal actinomycosis (disorder) | UMLS ID:C0001263 | ICD10 ID:A42.1 | Abdominal actinomycosis | SNOMEDCT ID:43894001 | ICD11 ID:1C10.1 | Ray fungus disease of the intestines +BMGC_DS00029,BMG_DS000036,ICD10 ID:A42.2 | SNOMEDCT ID:23014006 | Cervicofacial actinomycosis (disorder) | MONDO:0005699 | cervicofacial actinomycosis | ICD11 ID:1C10.2 | UMLS ID:C0001264 | Cervicofacial actinomycosis +BMGC_DS00030,BMG_DS000039,DOID:12351 | UMLS ID:C0001306 | Acute alcoholic liver disease | Acute alcoholic hepatitis | SNOMEDCT ID:9953008 | Acute alcoholic liver disease (disorder) | alcoholic hepatitis +BMGC_DS00031,BMG_DS000040,hepatitis | SNOMEDCT ID:197268000 | Acute and subacute liver necrosis (disorder) | DOID:2237 | UMLS ID:C0001308 | Acute and subacute liver necrosis +BMGC_DS00032,BMG_DS000041,"Acute atopic conjunctivitis | SNOMEDCT ID:67678004 | Angelucci syndrome | UMLS ID:C0001309 | SNOMEDCT ID:193863004 | ICD10 ID:H10.1 | ICD11 ID:9A60.0Z | DOID:11203 | Acute allergic conjunctivitis | MONDO:0001224 | Papillary conjunctivitis, unspecified | Angelucci's syndrome | Acute atopic conjunctivitis (disorder) | Critical allergic conjunctivitis syndrome" +BMGC_DS00033,BMG_DS000043,acute disease | UMLS ID:C0001314 | MONDO:0020683 | Acute Disease | MeSH ID:D000208 +BMGC_DS00034,BMG_DS000044,ICD10 ID:J04.0 | ICD11 ID:CA05.0 | acute laryngitis | SNOMEDCT ID:155506009 | DOID:9396 | Acute laryngitis (disorder) | SNOMEDCT ID:6655004 | UMLS ID:C0001327 | MONDO:0004777 | Acute laryngitis +BMGC_DS00035,BMG_DS000045,"MeSH ID:D020803 | Encephalitis, Herpes Simplex | Herpetic Acute Necrotizing Encephalitis | UMLS ID:C0001338" +BMGC_DS00036,BMG_DS000046,"Pancreatitis | DOID:2913 | Pancreatitis, Acute | MONDO:0006515 | acute pancreatitis | UMLS ID:C0001339 | MeSH ID:D010195" +BMGC_DS00037,BMG_DS000047,Acute pericementitis | acute pericementitis | UMLS ID:C0001342 | Acute periodontitis (disorder) | SNOMEDCT ID:21638000 | DOID:10423 | Acute periodontitis | SNOMEDCT ID:196361004 | MONDO:0001028 | SNOMEDCT ID:155646007 +BMGC_DS00038,BMG_DS000048,SNOMEDCT ID:27321001 | Throat: [acute pharyngitis] or [infection NOS] or [sore] (disorder) | Throat: [acute pharyngitis] or [sore NOS (& viral)] or [infection] | SNOMEDCT ID:363746003 | Sore throat NOS | SNOMEDCT ID:195654001 | Throat: [acute pharyngitis] or [infection NOS] or [sore] | Acute pharyngitis (disorder) | ICD10 ID:J02 | Sore throat | Viral sore throat NOS | DOID:2275 | Throat infection - pharyngitis | SNOMEDCT ID:155502006 | pharyngitis | Acute pharyngitis | SNOMEDCT ID:266379007 | Pharyngitis - acute | acute pharyngitis | MONDO:0020600 | Throat: [acute pharyngitis] or [sore NOS (& viral)] or [infection] (disorder) | UMLS ID:C0001344 | Throat infection NOS +BMGC_DS00039,BMG_DS000049,SNOMEDCT ID:190293001 | UMLS ID:C0001360 | Acute thyroiditis | ICD11 ID:5A03.0 | SNOMEDCT ID:154665005 | Acute thyroiditis (disorder) | MONDO:0001949 | ICD10 ID:E06.0 | acute thyroiditis | DOID:14353 +BMGC_DS00040,BMG_DS000051,AMI - Acute mesenteric ischemia | Acute intestinal ischaemia | Acute mesenteric ischaemia | DOID:8590 | acute vascular insufficiency of intestine | Acute vascular insufficiency of intestine (disorder) | UMLS ID:C0001363 | AMI - Acute mesenteric ischaemia | Acute mesenteric ischemia | MONDO:0004613 | Acute intestinal ischemic syndrome | Acute intestinal ischaemic syndrome | acute intestinal ischemia | Acute intestinal vascular insufficiency | Acute vascular insufficiency of intestine | Acute intestinal ischemia | SNOMEDCT ID:91489000 +BMGC_DS00041,BMG_DS000053,UMLS ID:C0001396 | Adams-Stokes Syndrome | Adams-Stokes syndrome | MeSH ID:D000219 | MONDO:0043475 +BMGC_DS00042,BMG_DS000054,MeSH ID:D000224 | Addison's disease | Addison Disease | UMLS ID:C0001403 | DOID:13774 | chronic primary adrenal insufficiency | MONDO:0015129 | OMIM ID:240200 +BMGC_DS00043,BMG_DS000055,DOID:299 | MONDO:0004970 | UMLS ID:C0001418 | adenocarcinoma +BMGC_DS00044,BMG_DS000056,papillary adenocarcinoma | DOID:3112 | MONDO:0002512 | UMLS ID:C0001420 +BMGC_DS00045,BMG_DS000057,DOID:2683 | adenofibroma | MONDO:0006071 | UMLS ID:C0001422 +BMGC_DS00046,BMG_DS000060,MONDO:0004972 | DOID:657 | UMLS ID:C0001430 | adenoma +BMGC_DS00047,BMG_DS000061,MONDO:0006673 | basophil adenoma | UMLS ID:C0001431 | pituitary gland basophil adenoma | DOID:4542 +BMGC_DS00048,BMG_DS000062,DOID:3828 | UMLS ID:C0001432 | chromophobe adenoma | MONDO:0006701 +BMGC_DS00049,BMG_DS000063,UMLS ID:C0001433 | pituitary gland acidophil adenoma | DOID:5392 | acidophil adenoma | MONDO:0006634 +BMGC_DS00050,BMG_DS000064,DOID:1974 | adenosarcoma | UMLS ID:C0001442 | MONDO:0005636 +BMGC_DS00051,BMG_DS000065,disease by infectious agent | DOID:0050117 | UMLS ID:C0001485 +BMGC_DS00052,BMG_DS000068,MeSH ID:D000270 | Holmes-Adie syndrome | DOID:11549 | OMIM ID:103100 | Adie syndrome | UMLS ID:C0001519 | Adie Syndrome | MONDO:0018690 +BMGC_DS00053,BMG_DS000069,Adiposis Dolorosa | MeSH ID:D000274 | UMLS ID:C0001529 | OMIM ID:103200 | adiposis dolorosa | MONDO:0007070 | DOID:3928 +BMGC_DS00054,BMG_DS000073,Adrenal Cortex Diseases | MONDO:0002816 | adrenal cortex disorder | MeSH ID:D000303 | DOID:3952 | UMLS ID:C0001614 | adrenal cortex disease +BMGC_DS00055,BMG_DS000074,adrenal cortex cancer | UMLS ID:C0001618 | adrenal cortex neoplasm | MONDO:0036591 | DOID:660 +BMGC_DS00056,BMG_DS000075,UMLS ID:C0001621 | adrenal gland disease | DOID:9553 | Adrenal Gland Diseases | MeSH ID:D000307 +BMGC_DS00057,BMG_DS000076,Adrenal Gland Hyperfunction | DOID:3947 | MONDO:0006640 | MeSH ID:D000308 | UMLS ID:C0001622 | Adrenocortical Hyperfunction | adrenal gland hyperfunction +BMGC_DS00058,BMG_DS000077,adrenal gland neoplasm | UMLS ID:C0001624 | adrenal gland cancer | MONDO:0021227 | DOID:3953 +BMGC_DS00059,BMG_DS000078,Congenital adrenal cortical hyperplasia (disorder) | Congenital adrenal cortical hyperplasia | Congenital adrenogenital syndrome | ICD10 ID:E25.0 | SNOMEDCT ID:27037004 | OMIM ID:MTHU014663 | SNOMEDCT ID:237751000 | ICD11 ID:5A71.01 | MONDO:0018479 | Congenital adrenal hyperplasia (disorder) | CAH - Congenital adrenal hyperplasia | Congenital adrenal hyperplasia | congenital adrenal hyperplasia | UMLS ID:C0001627 +BMGC_DS00060,BMG_DS000081,DOID:8438 | MeSH ID:D000343 | UMLS ID:C0001727 | afferent loop syndrome | MONDO:0006641 | Afferent Loop Syndrome +BMGC_DS00061,BMG_DS000082,Afibrinogenaemia | MeSH ID:D000347 | congenital afibrinogenemia | SNOMEDCT ID:278504009 | Afibrinogenemia | DOID:2236 | Afibrinogenemia (disorder) | UMLS ID:C0001733 +BMGC_DS00062,BMG_DS000085,Agammaglobulinaemia &/or hypo-gammaglobulinaemia | Agammaglobulinemia (finding) | DOID:2583 | (Deficiencies of humoral immunity) or (agammaglobulinemia) | Deficiencies of humoral immunity | UMLS ID:C0001768 | (Deficiencies of humoral immunity) or (agammaglobulinaemia) | Agammaglobulinemia (disorder) | SNOMEDCT ID:267512002 | SNOMEDCT ID:190977001 | MeSH ID:D000361 | SNOMEDCT ID:119249001 | Agammaglobulinemia &/or hypo-gammaglobulinemia | Agammaglobulinemia | OMIM ID:MTHU008328 | Agammaglobulinaemia | Agammaglobulinaemia &/or hypo-gammaglobulinaemia (disorder) | agammaglobulinemia | SNOMEDCT ID:81282009 | (Deficiencies of humoral immunity) or (agammaglobulinemia) (disorder) | MONDO:0015977 | A/Hypo-gammaglobulinaemia +BMGC_DS00063,BMG_DS000086,"Osteoporosis, Age-Related | MeSH ID:D010024 | UMLS ID:C0001787 | Osteoporosis" +BMGC_DS00064,BMG_DS000087,primary myelofibrosis | UMLS ID:C0001815 | MONDO:0009692 | OMIM ID:254450 | myelofibrosis | DOID:4971 +BMGC_DS00065,BMG_DS000088,agnosia | DOID:4090 | UMLS ID:C0001816 | MONDO:0005638 +BMGC_DS00066,BMG_DS000089,agoraphobia | DOID:593 | MONDO:0003709 | UMLS ID:C0001818 +BMGC_DS00067,BMG_DS000090,Agranulocytosis (finding) | UMLS ID:C0001824 | Agranulocytosis | (Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) | Agranulocytosis (disorder) | agranulocytosis | SNOMEDCT ID:165508008 | MeSH ID:D000380 | SNOMEDCT ID:154830007 | MONDO:0001609 | Kostmann's syndrome | Neutropenia | SNOMEDCT ID:17182001 | SNOMEDCT ID:142919000 | (Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) (disorder) | Schultz disease | SNOMEDCT ID:191336001 | OMIM ID:MTHU074770 | DOID:12987 +BMGC_DS00068,BMG_DS000092,Agricultural Workers' Diseases | UMLS ID:C0001828 | MeSH ID:D000382 +BMGC_DS00069,BMG_DS000093,MONDO:0020689 | AIDS Dementia Complex | UMLS ID:C0001849 | AIDS dementia complex | MeSH ID:D015526 +BMGC_DS00070,BMG_DS000095,Fibrous bands (morphologic abnormality) | Other specified disorders of cutaneous connective tissue | MONDO:0007074 | ICD10 ID:L94.6 | Ainhum - dactylolysis spontanea | DOID:11329 | Ainhum (disorder) | ainhum | MeSH ID:D000387 | Dactylolysis spontanea | UMLS ID:C0001860 | OMIM ID:103400 | Ainhum | ICD11 ID:EE7Y | SNOMEDCT ID:38528001 | SNOMEDCT ID:51404004 | Fibrous bands +BMGC_DS00071,BMG_DS000096,Motion sickness | ICD10 ID:T75.3 | ICD11 ID:NF08.3 | UMLS ID:C0001882 | Motion Sickness | MeSH ID:D009041 | Airsickness +BMGC_DS00072,BMG_DS000097,MeSH ID:D000402 | Airway Obstruction | UMLS ID:C0001883 | obstructive lung disease | MONDO:0002267 +BMGC_DS00073,BMG_DS000098,MONDO:0005640 | akinetic mutism | UMLS ID:C0001889 | MeSH ID:D000405 | Akinetic Mutism | DOID:4267 +BMGC_DS00074,BMG_DS000099,"absence epilepsy | DOID:0070309 | UMLS ID:C0001890 | Akinetic Petit Mal | Epilepsy, Absence | MeSH ID:D004832" +BMGC_DS00075,BMG_DS000100,MeSH ID:D012899 | Smallpox | variola minor | DOID:9153 | Variola Minor | MONDO:0004720 | variola minor infection | UMLS ID:C0001906 +BMGC_DS00076,BMG_DS000101,"Inborn errors of amino acid or other organic acid metabolism, unspecified | SNOMEDCT ID:15890002 | (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) | Albinismus | von Gierke 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) | Von Gierke's disease | albinism | Glucose-6-phosphate dehydrogenase deficiency | Cystinuria | UMLS ID:C0001916 | Waardenburg syndrome type 3 | Galactosemia | ICD11 ID:5C50.Z | MeSH ID:D000417 | Albinism | Disorder of amino acid metabolism: [other aromatic] or [albinism] (disorder) | Other amino-acid/carbohydrate | Albinism (disorder) | Other disturbances of aromatic amino-acid metabolism | MONDO:0043209 | Griscelli syndrome | ocular albinism with sensorineural deafness | Albinism (& [Klein-Waardenberg's syndrome]) | SNOMEDCT ID:190695000 | Glycogen storage disease | Glucose-6-phosph.dehydr.defic. | Galactosaemia | Albinism (& [Klein-Waardenberg's syndrome]) (disorder) | DOID:0060831;DOID:0090100;DOID:0110949 | SNOMEDCT ID:154738008 | ICD10 ID:E70.3 | OMIM ID:MTHU037234 | Albino | Klein-Waardenberg's syndrome | (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 of amino acid metabolism: [other aromatic] or [albinism] | SNOMEDCT ID:267498002 | SNOMEDCT ID:190688009" +BMGC_DS00077,BMG_DS000103,MeSH ID:D000430 | UMLS ID:C0001957 | Alcohol Withdrawal Delirium | alcohol withdrawal delirium | MONDO:0006642 +BMGC_DS00078,BMG_DS000104,OMIM ID:103780 | MONDO:0007079 | alcohol dependence | UMLS ID:C0001973 +BMGC_DS00079,BMG_DS000105,"aleutian mink disease | aleutian mink disease, human | DOID:2934 | Aleutian Mink Disease | MeSH ID:D000453 | UMLS ID:C0002016 | MONDO:0005641;MONDO:1010029" +BMGC_DS00080,BMG_DS000106,MONDO:0001712 | DOID:13417 | UMLS ID:C0002018 | alexia +BMGC_DS00081,BMG_DS000107,UMLS ID:C0002020 | alexithymia | MONDO:0000661 +BMGC_DS00082,BMG_DS000108,MeSH ID:D000471 | Alkalosis (disorder) | Alkalosis | ICD10 ID:E87.3 | OMIM ID:MTHU054076 | SNOMEDCT ID:154758009 | ICD11 ID:5C74 | SNOMEDCT ID:21420006 | UMLS ID:C0002063 +BMGC_DS00083,BMG_DS000109,"alkaptonuria | HGD-gene related homogentisate 1,2-dioxygenase deficiency | UMLS ID:C0002066 | SNOMEDCT ID:360381004 | OMIM ID:203500 | Homogentisic acid defect (& alkaptonuria) | SNOMEDCT ID:190689001 | Hereditary ochronosis | Homogentisate 1,2-dioxygenase deficiency | Deficiency of homogentisicase | ICD10 ID:E70.29 | Deficiency of homogentisate 1,2-dioxygenase | Homogentisicaciduria | Homogentisic acid defect | DOID:9270 | Homogentisic acid defect (& alkaptonuria) (disorder) | SNOMEDCT ID:24250001 | MeSH ID:D000474 | SNOMEDCT ID:360378009 | Homogentisic acid oxidase deficiency | Alkaptonuria | Alkaptonuria (finding) | Homogentisate 1,2-dioxygenase deficiency (disorder) | MONDO:0008753 | Alkaptonuria (disorder) | Deficiency of homogentisate oxygenase" +BMGC_DS00084,BMG_DS000111,Atopic rhinitis (disorder) | Atopic rhinitis | SNOMEDCT ID:38103000 | allergic rhinitis | UMLS ID:C0002103 | DOID:4481 +BMGC_DS00085,BMG_DS000114,(Alopecia) or (thinning of hair) | MONDO:0004907 | (Alopecia) or (thinning of hair) (disorder) | SNOMEDCT ID:270504008 | SNOMEDCT ID:56317004 | SNOMEDCT ID:156408004 | OMIM ID:MTHU036686 | alopecia | Alopecia | Alopecia (disorder) | MeSH ID:D000505 | Hair loss disorder | Bald | DOID:987 | UMLS ID:C0002170 | Baldness | SNOMEDCT ID:201129005 | Thinning of hair +BMGC_DS00086,BMG_DS000115,DOID:986 | MeSH ID:D000506 | MONDO:0005340 | UMLS ID:C0002171 | alopecia areata | Alopecia Areata +BMGC_DS00087,BMG_DS000116,"MONDO:0006551 | MeSH ID:D000507 | alopecia mucinosa | follicular mucinosis | UMLS ID:C0002173 | DOID:9905 | Mucinosis, Follicular" +BMGC_DS00088,BMG_DS000123,alpha thalassemia | DOID:1099 | MONDO:0011399 | MeSH ID:D017085 | alpha thalassemia spectrum | UMLS ID:C0002312 | OMIM ID:604131 | alpha-Thalassemia +BMGC_DS00089,BMG_DS000124,UMLS ID:C0002351 | MONDO:0006625 | altitude sickness | Altitude Sickness | MeSH ID:D000532 +BMGC_DS00090,BMG_DS000125,UMLS ID:C0002382 | Alveolar Bone Loss | MeSH ID:D016301 +BMGC_DS00091,BMG_DS000126,"hypersensitivity pneumonitis | (Extrinsic allergic alveolitis) or (farmers' lung) or (pneumonitis, allergic NOS) | Bagpipe lung | Extrinsic allergic alveolitis | SNOMEDCT ID:155581001 | Farmers lung | EAA - Extrinsic allergic alveolitis | Extrinsic allergic bronchiolo-alveolitis | Pneumonitis, allergic NOS | Allergic alveolitis | MONDO:0017853 | Allergic pneumonitis | UMLS ID:C0002390 | Hypersensitivity pneumonitis (disorder) | Allergic interstitial pneumonitis | DOID:841 | Farmers' lung | SNOMEDCT ID:37471005 | SNOMEDCT ID:266399001 | Hypersensitivity pneumonitis | extrinsic allergic alveolitis | Alveolitis - allergic" +BMGC_DS00092,BMG_DS000127,MONDO:0004975 | Alzheimer disease | UMLS ID:C0002395 | Alzheimer's disease | Alzheimer Disease | MeSH ID:D000544 | Alzheimer's Disease | DOID:10652 +BMGC_DS00093,BMG_DS000128,Amblyopia | UMLS ID:C0002418 | Congenital amblyopia | DOID:10376 | OMIM ID:MTHU002370 | MONDO:0001020 | (Visual disturbances NOS) or (amblyopia) or (blurred vision) (disorder) | Functional amblyopia | Blurred vision | (Visual disturbances NOS) or (amblyopia) or (blurred vision) | MeSH ID:D000550 | SNOMEDCT ID:267726008 | SNOMEDCT ID:387742006 | Amblyopia (disorder) | SNOMEDCT ID:111517004 | SNOMEDCT ID:155145007 | amblyopia | Visual disturbances NOS | Amblyopic +BMGC_DS00094,BMG_DS000129,SNOMEDCT ID:30483005 | Tobacco amblyopia | UMLS ID:C0002419 | Tobacco amblyopia (disorder) +BMGC_DS00095,BMG_DS000130,MONDO:0005644 | Entamoeba histolytica infection | SNOMEDCT ID:111910009 | Amebic dysentery | Amebic infection (disorder) | Amoebic dysentery | Amoebiasis (disorder) | DOID:9181 | Amebiasis | Amebiasis (disorder) | Amebic dysentery (disorder) | amebiasis | Amebic infection | Amoebic infection | SNOMEDCT ID:111909004 | Infection caused by Entamoeba histolytica (disorder) | UMLS ID:C0002438 | ICD10 ID:A06 | SNOMEDCT ID:387754006 | MeSH ID:D000562 | SNOMEDCT ID:388759003 | Infection caused by Entamoeba histolytica | SNOMEDCT ID:154274000 | Amoebiasis +BMGC_DS00096,BMG_DS000134,ameloblastoma | MONDO:0017795 | UMLS ID:C0002448 +BMGC_DS00097,BMG_DS000135,DOID:2187 | MONDO:0019507 | amelogenesis imperfecta | UMLS ID:C0002452 +BMGC_DS00098,BMG_DS000136,amenorrhea | DOID:13938 | UMLS ID:C0002453 | MONDO:0001836 +BMGC_DS00099,BMG_DS000137,"UMLS ID:C0002514 | amino acid metabolic disorder | Amino Acid Metabolism, Inborn Errors | DOID:9252 | MeSH ID:D000592" +BMGC_DS00100,BMG_DS000138,UMLS ID:C0002534 | MeSH ID:D000608 | renal aminoaciduria | Renal Aminoacidurias | MONDO:0006944 +BMGC_DS00101,BMG_DS000139,amnestic disorder | DOID:10914 | UMLS ID:C0002622 +BMGC_DS00102,BMG_DS000140,DOID:4543 | MONDO:0003040 | retrograde amnesia | UMLS ID:C0002624 +BMGC_DS00103,BMG_DS000141,amnestic disorder | MONDO:0001152 | UMLS ID:C0002625 | DOID:10914 +BMGC_DS00104,BMG_DS000142,Infection of amniotic cavity | SNOMEDCT ID:10573002 | UMLS ID:C0002631 | Amniotic cavity infection | Amnionitis | Infection of amniotic cavity (disorder) | amnionitis | MONDO:0020710 +BMGC_DS00105,BMG_DS000145,MONDO:0019065 | ICD10 ID:E85 | amyloidosis | SNOMEDCT ID:17602002 | UMLS ID:C0002726 | MeSH ID:D000686 | OMIM ID:MTHU076637 | Amyloidosis (disorder) | DOID:9120 | SNOMEDCT ID:154769007 | Amyloidosis +BMGC_DS00106,BMG_DS000146,Neuromuscular Diseases | amyotonia congenita | MONDO:0056822 | MeSH ID:D009468 | OMIM ID:205000 | Oppenheim's Disease | UMLS ID:C0002735 +BMGC_DS00107,BMG_DS000147,MONDO:0004976 | UMLS ID:C0002736 | amyotrophic lateral sclerosis | MeSH ID:D000690 | Amyotrophic Lateral Sclerosis | DOID:332 +BMGC_DS00108,BMG_DS000148,UMLS ID:C0002757 | anal gland neoplasm | MONDO:0003045 | DOID:4550 +BMGC_DS00109,BMG_DS000149,"Congenital Pain Insensitivity | Pain Insensitivity, Congenital | UMLS ID:C0002768 | hereditary sensory and autonomic neuropathy type 5 | MeSH ID:D000699 | DOID:0070145" +BMGC_DS00110,BMG_DS000152,DOID:12841 | MONDO:0005645 | Ancylostomosis | SNOMEDCT ID:85807000 | SNOMEDCT ID:63479002 | Infection by Uncinaria | Uncinariosis | Hookworm diseases | Ancylostomiasis | ICD11 ID:1F68 | MeSH ID:D000724 | ancylostomiasis | UMLS ID:C0002831 | Ancylostomiasis due to Ancylostoma duodenale | Uncinariasis | Ancylostomiasis (disorder) | Infection by Uncinaria (disorder) | Hookworm infection | ICD10 ID:B76.0 +BMGC_DS00111,BMG_DS000153,Anaemia (disorder) | SNOMEDCT ID:154786001 | Anemia (disorder) | OMIM ID:MTHU002606 | MONDO:0002280 | UMLS ID:C0002871 | SNOMEDCT ID:271737000 | Anaemia | Absolute anaemia | anemia | DOID:2355 | MeSH ID:D000740 | Anemia | Absolute anemia | SNOMEDCT ID:64593003 +BMGC_DS00112,BMG_DS000155,"UMLS ID:C0002874 | Anemia, Aplastic | MONDO:0015909 | DOID:12449 | aplastic anemia | Aplastic Anemia | MeSH ID:D000741" +BMGC_DS00113,BMG_DS000156,Homozygous beta thalassemia (disorder) | Homozygous beta thalassemia | SNOMEDCT ID:26682008 | Beta thalassaemia major | ICD11 ID:3A50.2 | UMLS ID:C0002875 | Mediterranean anemia | beta-thalassemia major | Beta thalassaemia | Cooley's anemia | Cooley's anaemia | Homozygous beta thalassaemia | MONDO:0016486 | ICD10 ID:D56.1 +BMGC_DS00114,BMG_DS000157,Congenital dyserythropoietic anemia | Congenital anaemia: [dyshaematopoietic] or [dyserythropoietic (& NEC)] (disorder) | MONDO:0019403 | ICD11 ID:3A73 | Congenital dyshematopoietic anemia | congenital dyserythropoietic anemia | CDA - congenital dyserythropoietic anaemia | Congenital anaemia: [dyshaematopoietic] or [dyserythropoietic (& NEC)] | Congenital anemia: [dyshematopoietic] or [dyserythropoietic (& NEC)] | OMIM ID:MTHU074604 | SNOMEDCT ID:191272005 | DOID:1338 | CDA - congenital dyserythropoietic anemia | UMLS ID:C0002876 | Congenital dyshaematopoietic anaemia | ICD10 ID:D64.4 | Congenital dyserythropoietic anaemia | SNOMEDCT ID:52951008 | Congenital dyserythropoietic anemia (disorder) | Congenital dyserythropoiesis NEC +BMGC_DS00115,BMG_DS000158,"UMLS ID:C0002878 | MONDO:0003664 | DOID:583 | hemolytic anemia | Anemia, Hemolytic | MeSH ID:D000743" +BMGC_DS00116,BMG_DS000159,"UMLS ID:C0002879 | Anemia, Hemolytic | MeSH ID:D000743 | Anemia, Hemolytic, Acquired" +BMGC_DS00117,BMG_DS000160,Hemolytic anemia due to antibody | Haemolytic anaemia due to antibody | AIHA - Autoimmune hemolytic anemia | OMIM ID:MTHU002424 | SNOMEDCT ID:413603009 | SNOMEDCT ID:154803002 | Autoimmune haemolytic anaemia | Autoimmune haemolytic anaemia (disorder) | AIHA - Autoimmune haemolytic anaemia | DOID:718 | UMLS ID:C0002880 | Neonatal isoerythrolysis | Autoimmune hemolytic anemia | OMIM ID:205700 | MONDO:0020108 | Autoimmune hemolytic anemia (disorder) | autoimmune hemolytic anemia | SNOMEDCT ID:25121006 +BMGC_DS00118,BMG_DS000161,"DOID:589 | UMLS ID:C0002881 | familial hemolytic anemia | Anemia, Hemolytic, Congenital | MONDO:0003689 | congenital hemolytic anemia | MeSH ID:D000745" +BMGC_DS00119,BMG_DS000162,"congenital nonspherocytic hemolytic anemia | MONDO:0006506 | DOID:2861 | Anemia, Hemolytic, Congenital Nonspherocytic | MeSH ID:D000746 | UMLS ID:C0002882" +BMGC_DS00120,BMG_DS000163,"Anemia, Hemolytic, Idiopathic Acquired | MeSH ID:D000744 | UMLS ID:C0002883 | Anemia, Hemolytic, Autoimmune" +BMGC_DS00121,BMG_DS000164,UMLS ID:C0002884 | hypochromic anemia | MONDO:0001357 | DOID:11759 | Normocytic hypochromic anemia (disorder) | Hypochromic anaemia | SNOMEDCT ID:44452003 | OMIM ID:MTHU006440 | Normocytic hypochromic anemia | Hypochromic anemia | Normocytic hypochromic anaemia +BMGC_DS00122,BMG_DS000165,"MONDO:0002281 | macrocytic anemia | Anemia, Macrocytic | UMLS ID:C0002886 | DOID:2361 | MeSH ID:D000748" +BMGC_DS00123,BMG_DS000166,"MONDO:0001700 | UMLS ID:C0002888 | Anemia, Megaloblastic | MeSH ID:D000749 | megaloblastic anemia | DOID:13382" +BMGC_DS00124,BMG_DS000167,"Anemia, Microangiopathic | Anemia, Hemolytic | MeSH ID:D000743 | UMLS ID:C0002889" +BMGC_DS00125,BMG_DS000168,"Leukoerythroblastic Anemia | MONDO:0005868 | Anemia, Myelophthisic | MeSH ID:D000750 | myelophthisic anemia | UMLS ID:C0002890 | DOID:2354" +BMGC_DS00126,BMG_DS000169,"MeSH ID:D000751 | Anemia, Neonatal | UMLS ID:C0002891 | neonatal anemia | MONDO:0001240 | DOID:11244" +BMGC_DS00127,BMG_DS000170,"MeSH ID:D000752 | DOID:13381 | UMLS ID:C0002892 | OMIM ID:170900 | Anemia, Pernicious | MONDO:0008228 | pernicious anemia" +BMGC_DS00128,BMG_DS000172,"MeSH ID:D000755 | OMIM ID:603903 | sickle cell anemia | Anemia, Sickle Cell | UMLS ID:C0002895 | DOID:10923 | MONDO:0011382" +BMGC_DS00129,BMG_DS000173,Sideroblastic anaemia | Primary sideroblastic anaemia | Refractory sideroblastic anemia | Sideroblastic anemia | Refractory sideroblastic anaemia | Sideroblastic anaemia (disorder) | sideroblastic anemia | MONDO:0015194 | SNOMEDCT ID:41841004 | Primary sideroblastic anemia | OMIM ID:MTHU037698 | Sideroachrestic anemia | SNOMEDCT ID:154810008 | Sideroachrestic anaemia | Sideroblastic anemia (disorder) | DOID:8955 | UMLS ID:C0002896 +BMGC_DS00130,BMG_DS000174,"Anemia, Splenic | Hypersplenism | MeSH ID:D006971 | UMLS ID:C0002897" +BMGC_DS00131,BMG_DS000175,anencephaly | UMLS ID:C0002902 | MONDO:0000819 +BMGC_DS00132,BMG_DS000176,aneuploidy | MONDO:0700064 | UMLS ID:C0002938 +BMGC_DS00133,BMG_DS000177,vascular disease | UMLS ID:C0002940 | DOID:178 +BMGC_DS00134,BMG_DS000178,"UMLS ID:C0002949 | Arterial Dissection | Dissection, Blood Vessel | MeSH ID:D000094665" +BMGC_DS00135,BMG_DS000181,"Prinzmetal angina | DOID:0111151 | MeSH ID:D000788 | MONDO:0006021 | Angina Pectoris, Variant | UMLS ID:C0002963" +BMGC_DS00136,BMG_DS000182,"MONDO:0006805 | DOID:8805 | MeSH ID:D000789 | UMLS ID:C0002965 | Angina, Unstable | intermediate coronary syndrome" +BMGC_DS00137,BMG_DS000183,angioid streaks | DOID:13401 | MeSH ID:D000793 | UMLS ID:C0002982 | Angioid Streaks | MONDO:0011782 | OMIM ID:607140 +BMGC_DS00138,BMG_DS000184,Angioid streaks of choroid | UMLS ID:C0002983 | DOID:979 | MONDO:0004882 | angioid streaks of choroid | SNOMEDCT ID:86103006 | Angioid streaks of choroid (disorder) +BMGC_DS00139,BMG_DS000185,UMLS ID:C0002985 | angiokeratoma | DOID:479 | MONDO:0003143 +BMGC_DS00140,BMG_DS000186,OMIM ID:301500 | DOID:14499 | Fabry disease | MONDO:0010526 | Fabry Disease | UMLS ID:C0002986 | MeSH ID:D000795 +BMGC_DS00141,BMG_DS000187,DOID:14308 | UMLS ID:C0002989 | skin epithelioid hemangioma | MONDO:0001939 +BMGC_DS00142,BMG_DS000188,cutaneous fibrous histiocytoma | UMLS ID:C0002991 | DOID:4418 | MONDO:0006717 +BMGC_DS00143,BMG_DS000190,angioedema | UMLS ID:C0002994 | DOID:1558 | MONDO:0010481 +BMGC_DS00144,BMG_DS000191,"SNOMEDCT ID:156414006 | MeSH ID:D007007 | MONDO:0006560;MONDO:0006527 | SNOMEDCT ID:39659002 | OMIM ID:MTHU001816 | SNOMEDCT ID:201189007 | DOID:11156 | Anhidrosis (disorder) | (Anhidrosis) or (hypohidrosis) or (oligohidrosis) | UMLS ID:C0003028 | Hypohidrosis | obsolete hypohidrosis | Hypohidrosis, unspecified | Anhidrosis | ICD10 ID:L74.4 | anhidrosis | (Anhidrosis) or (hypohidrosis) or (oligohidrosis) (disorder) | Oligohidrosis | ICD11 ID:EE01.Z" +BMGC_DS00145,BMG_DS000193,MONDO:0019172 | aniridia | DOID:12271 | UMLS ID:C0003076 +BMGC_DS00146,BMG_DS000196,MeSH ID:D015858 | anisometropia | OMIM ID:MTHU042450 | DOID:12273 | UMLS ID:C0003081 | SNOMEDCT ID:3289004 | Anisometropia | Anisometropia (disorder) | MONDO:0001478 | ICD10 ID:H52.31 +BMGC_DS00147,BMG_DS000197,autoimmune disease | DOID:417 | UMLS ID:C0003089 +BMGC_DS00148,BMG_DS000198,DOID:227 | ankylosis | MONDO:0002257 | UMLS ID:C0003090 +BMGC_DS00149,BMG_DS000201,MONDO:0003039 | nominal aphasia | DOID:4541 | UMLS ID:C0003113 +BMGC_DS00150,BMG_DS000202,OMIM ID:MTHU006757 | ICD10 ID:R63.0 | UMLS ID:C0003123 | Anorexia | ICD11 ID:MG43.7 | MeSH ID:D000855 +BMGC_DS00151,BMG_DS000203,MONDO:0005351 | anorexia nervosa | UMLS ID:C0003125 | DOID:8689 +BMGC_DS00152,BMG_DS000204,MONDO:0010528 | anosmia | UMLS ID:C0003126 +BMGC_DS00153,BMG_DS000205,Anovulation | Ovulation absent | MONDO:0002775 | MeSH ID:D000858 | UMLS ID:C0003128 | SNOMEDCT ID:34571000 | anovulation | DOID:3781 | Anovulation (finding) +BMGC_DS00154,BMG_DS000206,UMLS ID:C0003152 | MONDO:0006648 | anterior compartment of tibia syndrome | DOID:3933 | MeSH ID:D000868 | Anterior Compartment Syndrome | anterior compartment syndrome +BMGC_DS00155,BMG_DS000207,SNOMEDCT ID:33548005 | Anthracosilicosis | ICD10 ID:J60 | Anthracosilicosis (disorder) | DOID:10324 | anthracosilicosis | UMLS ID:C0003164 | MONDO:0006653 | MeSH ID:D000874 +BMGC_DS00156,BMG_DS000208,Lung melanosis | ICD10 ID:J60 | Melanedema | DOID:10327 | Coal workers' pneumoconiosis | Black lung disease | Colliers' anthracosis | Coal miners' lung | Miners' asthma | anthracosis | Coal workers' pneumoconiosis (disorder) | Anthracosis | SNOMEDCT ID:29422001 | MONDO:0006654 | MeSH ID:D055008 | UMLS ID:C0003165 | Coal pneumoconiosis | Coal workers' lung | Melanoedema | Pneumomelanosis | Miners' lung | Colliers' lung | Coal miners' pneumoconiosis +BMGC_DS00157,BMG_DS000209,MONDO:0005119 | UMLS ID:C0003175 | anthrax infection | DOID:7427 | anthrax disease +BMGC_DS00158,BMG_DS000210,UMLS ID:C0003177 | ICD11 ID:1B97 | Anthrax | cutaneous anthrax | SNOMEDCT ID:84980006 | Malignant pustule | Cutaneous anthrax (disorder) | MONDO:0004215 | Cutaneous anthrax | MeSH ID:C531621 | ICD10 ID:A22.0 | DOID:7426 +BMGC_DS00159,BMG_DS000211,Antibody Deficiency Syndrome | MeSH ID:D007153 | Immunologic Deficiency Syndromes | UMLS ID:C0003257 +BMGC_DS00160,BMG_DS000212,UMLS ID:C0003431 | MONDO:0001164 | DOID:10939 | antisocial personality disorder +BMGC_DS00161,BMG_DS000213,DOID:2983 | SNOMEDCT ID:2472002 | MONDO:0002476 | Anuria | MeSH ID:D001002 | Passes no urine | UMLS ID:C0003460 | Anuria (finding) | OMIM ID:MTHU012488 | anuria | SNOMEDCT ID:139460001 +BMGC_DS00162,BMG_DS000214,MONDO:0002519 | MeSH ID:D001004 | UMLS ID:C0003462 | Anus Diseases | DOID:3128 | anus disease | anus disorder +BMGC_DS00163,BMG_DS000215,anus neoplasm | MONDO:0003046 | DOID:4551 | anus benign neoplasm | UMLS ID:C0003463 +BMGC_DS00164,BMG_DS000216,MONDO:0001046 | imperforate anus | UMLS ID:C0003466 | OMIM ID:207500 | OMIM ID:301800 | DOID:10488 +BMGC_DS00165,BMG_DS000217,MONDO:0011918 | anxiety | UMLS ID:C0003467 | OMIM ID:607834 +BMGC_DS00166,BMG_DS000218,DOID:2030 | MONDO:0005618 | UMLS ID:C0003469 | anxiety disorder +BMGC_DS00167,BMG_DS000219,UMLS ID:C0003477 | MONDO:0001098 | separation anxiety disorder +BMGC_DS00168,BMG_DS000220,DOID:3627 | MeSH ID:D001014 | UMLS ID:C0003486 | Aortic Aneurysm | MONDO:0005160 | aortic aneurysm +BMGC_DS00169,BMG_DS000221,Takayasu's arteritis | UMLS ID:C0003490 | MeSH ID:D001015 | DOID:2508 | Aortic Arch Syndromes +BMGC_DS00170,BMG_DS000222,OMIM ID:120000 | aorta coarctation | UMLS ID:C0003492 | MONDO:0007345 +BMGC_DS00171,BMG_DS000223,Aortic Diseases | aortic disorder | MONDO:0005561 | aortic disease | MeSH ID:D001018 | UMLS ID:C0003493 | DOID:520 +BMGC_DS00172,BMG_DS000224,Aortic Rupture | UMLS ID:C0003496 | MeSH ID:D001019 +BMGC_DS00173,BMG_DS000225,MONDO:0008504 | supravalvular aortic stenosis | DOID:1929 | Congenital supravalvar aortic stenosis | UMLS ID:C0003499 | ICD11 ID:LA8A.3 | OMIM ID:185500 | Supravalvular aortic stenosis | OMIM ID:MTHU014953 | ICD10 ID:Q25.3 +BMGC_DS00174,BMG_DS000227,MeSH ID:D001022 | Aortic Valve Insufficiency | MONDO:0005648 | aortic valve insufficiency | UMLS ID:C0003504 | DOID:57 +BMGC_DS00175,BMG_DS000228,MeSH ID:D001023 | Aortic Valve Prolapse | aortic valve prolapse | MONDO:0006655 | DOID:5232 | UMLS ID:C0003505 +BMGC_DS00176,BMG_DS000229,MONDO:0042981 | UMLS ID:C0003507 | aortic valve stenosis | DOID:1712 +BMGC_DS00177,BMG_DS000230,UMLS ID:C0003509 | Arteritis unspecified | SNOMEDCT ID:70933002 | MONDO:0006656 | Aortitis (disorder) | SNOMEDCT ID:195368003 | (Arteritis unspecified) or (aortitis) (disorder) | (Arteritis unspecified) or (aortitis) | OMIM ID:MTHU021216 | DOID:519 | Aortitis | aortitis | MeSH ID:D001025 +BMGC_DS00178,BMG_DS000231,MeSH ID:D013625 | Takayasu Arteritis | UMLS ID:C0003510 | Aortitis Syndrome +BMGC_DS00179,BMG_DS000234,MONDO:0000598 | aphasia | UMLS ID:C0003537 +BMGC_DS00180,BMG_DS000235,UMLS ID:C0003614 | DOID:11240 | appendiceal neoplasm | MONDO:0001236 +BMGC_DS00181,BMG_DS000236,SNOMEDCT ID:155728006 | SNOMEDCT ID:155729003 | UMLS ID:C0003615 | MONDO:0005649 | DOID:8337 | Appendicitis (disorder) | MeSH ID:D001064 | SNOMEDCT ID:74400008 | Appendicitis | appendicitis +BMGC_DS00182,BMG_DS000237,UMLS ID:C0003635 | DOID:0060135 | apraxia | MONDO:0000665 +BMGC_DS00183,BMG_DS000238,Arachnoiditis | arachnoiditis | SNOMEDCT ID:154986008 | SNOMEDCT ID:8217007 | MONDO:0015304 | MeSH ID:D001100 | DOID:12156 | Arachnoiditis (disorder) | Other meningitis NOS &/or arachnoiditis (disorder) | Other meningitis NOS | SNOMEDCT ID:267681007 | UMLS ID:C0003708 | Other meningitis NOS &/or arachnoiditis +BMGC_DS00184,BMG_DS000240,arbovirus infection | UMLS ID:C0003723 | viral infectious disease | MONDO:0020731 | DOID:934 | Arbovirus Infections | MeSH ID:D001102 +BMGC_DS00185,BMG_DS000241,UMLS ID:C0003742 | OMIM ID:107800 | Arcus Senilis | arcus senilis | MONDO:0007150 | DOID:11342 | MeSH ID:D001112 +BMGC_DS00186,BMG_DS000242,MONDO:0005650 | MeSH ID:D001117 | Arenaviridae infectious disease | Arenaviridae Infections | UMLS ID:C0003756 +BMGC_DS00187,BMG_DS000243,UMLS ID:C0003803 | Chiari malformation | MONDO:0000115 +BMGC_DS00188,BMG_DS000245,"cardiac rhythm disease | MeSH ID:D001145 | Cardiac Arrhythmia | Arrhythmias, Cardiac | UMLS ID:C0003811 | MONDO:0007263" +BMGC_DS00189,BMG_DS000247,peripheral vascular disease | DOID:341 | MeSH ID:D001157 | Arterial Occlusive Diseases | UMLS ID:C0003838 +BMGC_DS00190,BMG_DS000249,DOID:2349 | Atherosclerotic cardiovascular disease | Arteriosclerosis | Atherosclerosis | MONDO:0002277 | SNOMEDCT ID:195251000 | arteriosclerosis | Arteriosclerosis (morphologic abnormality) | arteriosclerosis disorder | Atherosclerosis (disorder) | OMIM ID:MTHU037126 | UMLS ID:C0003850 | MeSH ID:D001161 | SNOMEDCT ID:28960008 | AS - Atherosclerosis +BMGC_DS00191,BMG_DS000250,Arteriosclerosis Obliterans | DOID:5160 | UMLS ID:C0003851 | MeSH ID:D001162 | MONDO:0006659 | arteriosclerosis obliterans +BMGC_DS00192,BMG_DS000251,MONDO:0043494 | UMLS ID:C0003860 | arteritis +BMGC_DS00193,BMG_DS000253,Arthritis | MONDO:0005578 | UMLS ID:C0003864 | (Arthropathy NOS) or (arthritis) (disorder) | Arthritis (finding) | Arthritis (disorder) | arthritic joint disease | SNOMEDCT ID:202059001 | arthritis | OMIM ID:MTHU001688 | SNOMEDCT ID:3723001 | MeSH ID:D001168 | Arthropathy NOS | (Arthropathy NOS) or (arthritis) | SNOMEDCT ID:372091005 | Inflammatory arthritis | DOID:848 +BMGC_DS00194,BMG_DS000254,"Arthritis, Gouty | DOID:13189 | gout | MeSH ID:D015210 | UMLS ID:C0003868" +BMGC_DS00195,BMG_DS000255,"DOID:813 | infective arthritis | UMLS ID:C0003869 | septic arthritis | MONDO:0042485 | MeSH ID:D001170 | Arthritis, Infectious" +BMGC_DS00196,BMG_DS000256,"psoriatic arthritis | Arthritis, Psoriatic | MONDO:0011849 | DOID:9008 | MeSH ID:D015535 | UMLS ID:C0003872" +BMGC_DS00197,BMG_DS000257,"Arthritis, Rheumatoid | UMLS ID:C0003873 | MeSH ID:D001172 | OMIM ID:180300 | Rheumatoid Arthritis | MONDO:0008383 | DOID:7148 | rheumatoid arthritis" +BMGC_DS00198,BMG_DS000259,"Arthritis, Viral | UMLS ID:C0003875 | MeSH ID:D001170 | Arthritis, Infectious" +BMGC_DS00199,BMG_DS000261,MONDO:0001935 | UMLS ID:C0003892 | neurogenic arthropathy | DOID:14286 +BMGC_DS00200,BMG_DS000262,DOID:1556 | UMLS ID:C0003907 | MeSH ID:D001183 | arthus reaction | Arthus Reaction | MONDO:0006660 +BMGC_DS00201,BMG_DS000263,articulation disorder | UMLS ID:C0003910 | DOID:4186 | MONDO:0002903 +BMGC_DS00202,BMG_DS000264,Asbestosis (disorder) | MeSH ID:D001195 | Amianthosis | Asbestosis | (Asbestosis) or (byssinosis) or (pleural plaque disease) (disorder) | MONDO:0016466 | SNOMEDCT ID:22607003 | UMLS ID:C0003949 | ICD10 ID:J61 | (Asbestosis) or (byssinosis) or (pleural plaque disease) | Pulmonary asbestosis | SNOMEDCT ID:266400008 | SNOMEDCT ID:155589004 | asbestosis | Pleural plaque disease | Asbestos pneumoconiosis | DOID:10320 | Byssinosis +BMGC_DS00203,BMG_DS000265,SNOMEDCT ID:2435008 | Ascariasis | Ascariosis | ICD10 ID:B77 | MeSH ID:D001196 | DOID:456 | Ascaridiasis | ascariasis | Ascariasis - roundworms | Ascariasis (disorder) | UMLS ID:C0003950 | MONDO:0005654 +BMGC_DS00204,BMG_DS000266,SNOMEDCT ID:2435008 | Ascariasis | Ascariosis | MONDO:0005655 | UMLS ID:C0003952 | Ascaridiasis | Ascariasis - roundworms | Ascariasis (disorder) | ascaridiasis | DOID:3108 | MeSH ID:D001198 +BMGC_DS00205,BMG_DS000267,Abdominal dropsy | Ascites | UMLS ID:C0003962 | Hydroperitonia | MeSH ID:D001201 | Ascites (disorder) | OMIM ID:MTHU037219 | Peritoneal dropsy | SNOMEDCT ID:389026000 | Ascitic fluid | SNOMEDCT ID:13124004 | Hydrops abdominis | ICD10 ID:R18 | Hydroperitoneum +BMGC_DS00206,BMG_DS000268,Ascorbic Acid Deficiency | MeSH ID:D001206 | UMLS ID:C0003969 +BMGC_DS00207,BMG_DS000269,UMLS ID:C0003977 | osteonecrosis | DOID:10159 +BMGC_DS00208,BMG_DS000270,Other mycoses | Mycoses - other | Aspergillosis (disorder) | MONDO:0005657 | SNOMEDCT ID:154408001 | ICD10 ID:B44 | SNOMEDCT ID:266218008 | Aspergillosis | Coccidioidomycosis | UMLS ID:C0004030 | aspergillosis | Histoplasmosis | SNOMEDCT ID:65553006 | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Infection due to Aspergillus | Piedra | Sporotrichosis | DOID:13564 | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | MeSH ID:D001228 +BMGC_DS00209,BMG_DS000271,"Aspergillosis, Allergic Bronchopulmonary | UMLS ID:C0004031 | DOID:13166 | MeSH ID:D001229 | allergic bronchopulmonary aspergillosis" +BMGC_DS00210,BMG_DS000273,MONDO:0006663 | DOID:11088 | Asphyxia Neonatorum | asphyxia neonatorum | UMLS ID:C0004045 | MeSH ID:D001238 | perinatal asphyxia +BMGC_DS00211,BMG_DS000277,SNOMEDCT ID:155574008 | SNOMEDCT ID:195967001 | Bronchial asthma | SNOMEDCT ID:187687003 | Hyperreactive airway disease | Asthma | Asthma (disorder) | DOID:2841 | Bronchial hypersensitivity | Asthmatic bronchitis | BHR - Bronchial hyperreactivity | SNOMEDCT ID:278517007 | Asthmatic bronchitis (disorder) | Bronchial hyperreactivity | UMLS ID:C0004096 | ICD10 ID:J45 | Asthmatic | Allergic bronchitis | MONDO:0004979 | MeSH ID:D001249 | OMIM ID:MTHU003537 | Bronchial hyperresponsiveness | asthma | Wheezy bronchitis | Airway hyperreactivity | SNOMEDCT ID:21341004 +BMGC_DS00212,BMG_DS000279,MONDO:0011284 | ICD10 ID:H52.2 | astigmatism | ICD11 ID:9D00.2 | SNOMEDCT ID:82649003 | Astigmatism | UMLS ID:C0004106 | SNOMEDCT ID:155134009 | Astigmatism (disorder) | OMIM ID:MTHU011134 | OMIM ID:603047 | DOID:11782 | MeSH ID:D001251 +BMGC_DS00213,BMG_DS000280,MONDO:0019781 | malignant astrocytoma | UMLS ID:C0004114 | DOID:3069 | astrocytoma (excluding glioblastoma) +BMGC_DS00214,BMG_DS000281,MONDO:0008840 | OMIM ID:208900 | DOID:12704 | ataxia telangiectasia | Ataxia Telangiectasia | UMLS ID:C0004135 | MeSH ID:D001260 +BMGC_DS00215,BMG_DS000282,"MeSH ID:D013132 | Ataxias, Hereditary | MONDO:0100309 | UMLS ID:C0004138 | Spinocerebellar Degenerations | hereditary ataxia" +BMGC_DS00216,BMG_DS000283,Atherosclerosis (& [NOS]) | Arteriosclerosis NOS | Atheromatosis | SNOMEDCT ID:155382007 | SNOMEDCT ID:38716007 | SNOMEDCT ID:194848007 | OMIM ID:MTHU036909 | AS - Atherosclerosis | Atherosclerosis | Atherosclerosis (& [NOS]) (disorder) | Atherosclerosis (disorder) | SNOMEDCT ID:155414001 | Arteriosclerosis | ICD10 ID:I70 | SNOMEDCT ID:266318005 | Atherosclerosis (morphologic abnormality) | DOID:1936;DOID:2348 | atherosclerosis | Atherosclerotic cardiovascular disease | SNOMEDCT ID:195251000 | arteriosclerotic cardiovascular disease | MONDO:0005311 | UMLS ID:C0004153 | MeSH ID:D050197 +BMGC_DS00217,BMG_DS000285,UMLS ID:C0004158 | Athetosis | MeSH ID:D001264 | Athetosis (disorder) | OMIM ID:MTHU004613 | SNOMEDCT ID:44913001 +BMGC_DS00218,BMG_DS000288,UMLS ID:C0004238 | DOID:0060224 | atrial fibrillation | MeSH ID:D001281 | MONDO:0004981 | Atrial Fibrillation +BMGC_DS00219,BMG_DS000289,atrial flutter | MONDO:0005310 | UMLS ID:C0004239 +BMGC_DS00220,BMG_DS000290,DOID:0050820 | MONDO:0000465 | Atrioventricular Block | MeSH ID:D054537 | UMLS ID:C0004245 | atrioventricular block +BMGC_DS00221,BMG_DS000293,MONDO:0008848 | OMIM ID:209600 | UMLS ID:C0004331 | atrioventricular dissociation +BMGC_DS00222,BMG_DS000294,DOID:12849 | autism | MONDO:0005260 | autistic disorder | UMLS ID:C0004352 | OMIM ID:209850 +BMGC_DS00223,BMG_DS000295,autoimmune disease | OMIM ID:109100 | Autoimmune Diseases | MeSH ID:D001327 | MONDO:0007179 | UMLS ID:C0004364 +BMGC_DS00224,BMG_DS000296,DOID:1509 | MONDO:0002027 | avoidant personality disorder | UMLS ID:C0004444 +BMGC_DS00225,BMG_DS000298,Azoospermia | SNOMEDCT ID:48188009 | DOID:14227 | (Azoospermia) or (Young's syndrome) | MONDO:0100459 | Azoospermia (finding) | Azoospermatism | Sperm absent | ICD10 ID:N46.0 | Azoospermia (disorder) | azoospermia | SNOMEDCT ID:198010009 | SNOMEDCT ID:425558002 | Azoospermia disorder (disorder) | OMIM ID:MTHU037275 | Sperm absent - azoospermia | SNOMEDCT ID:155925000 | SNOMEDCT ID:167781002 | (Azoospermia) or (Young's syndrome) (disorder) | Azoospermia disorder | Young's syndrome | MeSH ID:D053713 | SNOMEDCT ID:145008007 | UMLS ID:C0004509 +BMGC_DS00226,BMG_DS000299,SNOMEDCT ID:187241002 | Piroplasmosis | MONDO:0005661 | Babesiasis | Red water fever | Infection by Babesia | ICD11 ID:1F52 | SNOMEDCT ID:21061004 | UMLS ID:C0004576 | ICD10 ID:B60.0 | babesiosis | Babesiosis (disorder) | Babesiosis | DOID:9643 | MeSH ID:D001404 +BMGC_DS00227,BMG_DS000300,DOID:13208 | SNOMEDCT ID:390834004 | Nonproliferative retinopathy due to diabetes mellitus | background diabetic retinopathy | Background diabetic retinopathy | BDR - Background diabetic retinopathy | Non proliferative diabetic retinopathy | MONDO:0001661 | NPDR - Non proliferative diabetic retinopathy | Nonproliferative diabetic retinopathy | UMLS ID:C0004606 | Nonproliferative retinopathy due to diabetes mellitus (disorder) +BMGC_DS00228,BMG_DS000301,UMLS ID:C0004608 | DOID:0050535 | exudative vitreoretinopathy +BMGC_DS00229,BMG_DS000302,UMLS ID:C0004610 | MONDO:0005229 | bacterial infectious disease with sepsis +BMGC_DS00230,BMG_DS000305,DOID:104 | bacterial infectious disease | UMLS ID:C0004623 | Bacterial Infections | MONDO:0005113 | MeSH ID:D001424 +BMGC_DS00231,BMG_DS000306,"MeSH ID:D018410 | Pneumonia, Bacterial | MONDO:0004652 | UMLS ID:C0004626 | bacterial pneumonia | DOID:874" +BMGC_DS00232,BMG_DS000307,DOID:1412 | MONDO:0001882 | UMLS ID:C0004659 | bacteriuria +BMGC_DS00233,BMG_DS000309,MONDO:0001540 | ICD11 ID:CA70.1 | Bagasse workers' disease | MeSH ID:D011009 | SNOMEDCT ID:67242002 | Bagasse workers' lung | Bagassosis (disorder) | ICD10 ID:J67.1 | Bagassosis | DOID:12522 | Bagasse disease | bagassosis | UMLS ID:C0004681 | Sugar cane workers' hypersensitivity pneumonitis | Pneumoconiosis +BMGC_DS00234,BMG_DS000310,"Balanitis | Balanoposthitis | ICD10 ID:N48.1 | ICD11 ID:GB06.0Z | SNOMEDCT ID:198021000 | MONDO:0006672 | SNOMEDCT ID:155928003 | balanitis | MeSH ID:D001446 | (Balanitis) or (balanoposthitis) | SNOMEDCT ID:266572002 | Balanitis (disorder) | SNOMEDCT ID:44882003 | DOID:13033 | Balanoposthitis, unspecified | SNOMEDCT ID:198020004 | (Balanitis) or (balanoposthitis) (disorder) | UMLS ID:C0004690" +BMGC_DS00235,BMG_DS000311,Balanitis | UMLS ID:C0004691 | MONDO:0001618 | Balanoposthitis | ICD10 ID:N47.6 | Balanoposthitis (disorder) | (Balanitis) or (balanoposthitis) | balanoposthitis | SNOMEDCT ID:198020004 | SNOMEDCT ID:46090001 | (Balanitis) or (balanoposthitis) (disorder) | DOID:13031 +BMGC_DS00236,BMG_DS000312,SNOMEDCT ID:57725006 | balantidiasis | MeSH ID:D001447 | Balantidial dysentery | Infections due to Balantidium coli | ICD10 ID:A07.0 | UMLS ID:C0004692 | DOID:12386 | MONDO:0005662 | ICD11 ID:1A30 | Balantidiasis (disorder) | Balantidiasis | Balantidiosis +BMGC_DS00237,BMG_DS000313,DOID:3052 | MeSH ID:D001449 | Balkan Nephropathy | Balkan nephropathy | MONDO:0007416 | OMIM ID:124100 | UMLS ID:C0004698 +BMGC_DS00238,BMG_DS000314,UMLS ID:C0004712 | Balo concentric sclerosis | Diffuse Cerebral Sclerosis of Schilder | MONDO:0016430 | MeSH ID:D002549 | Balo's Concentric Sclerosis +BMGC_DS00239,BMG_DS000316,OMIM ID:614266 | Barrett's esophagus | DOID:9206 | Barrett esophagus | MONDO:0013662 | UMLS ID:C0004763 | Barrett Esophagus | MeSH ID:D001471 +BMGC_DS00240,BMG_DS000317,Bartholin duct cyst | Cyst of Bartholin gland duct | Cyst of Bartholin's gland | Cyst of Bartholin's gland duct | Cyst of Bartholin's gland duct (disorder) | MONDO:0004593 | DOID:851 | Bartholin's gland duct cyst | Bartholin's cyst | SNOMEDCT ID:57044006 | Bartholin's gland cyst | Bartholin's duct cyst | UMLS ID:C0004767 +BMGC_DS00241,BMG_DS000319,bartonellosis | MeSH ID:D001474 | UMLS ID:C0004771 | DOID:11102 | Bartonella Infections | MONDO:0005664 +BMGC_DS00242,BMG_DS000321,DOID:445 | UMLS ID:C0004775 | Bartter Syndrome | Bartter Disease | MeSH ID:D001477 | Bartter syndrome | MONDO:0015231 | Bartter disease +BMGC_DS00243,BMG_DS000322,UMLS ID:C0004779 | nevoid basal cell carcinoma syndrome | DOID:2512 | MONDO:0007187 +BMGC_DS00244,BMG_DS000323,Basal Ganglia Diseases | MeSH ID:D001480 | UMLS ID:C0004782 | DOID:679 | basal ganglia disease +BMGC_DS00245,BMG_DS000324,Vertebrobasilar Insufficiency | DOID:223 | MONDO:0002250 | Basilar Artery Insufficiency | basilar artery insufficiency | MeSH ID:D014715 | UMLS ID:C0004812 +BMGC_DS00246,BMG_DS000326,UMLS ID:C0004903 | Beckwith-Wiedemann Syndrome | MeSH ID:D001506 | Beckwith-Wiedemann syndrome | MONDO:0007534 | OMIM ID:130650 | DOID:5572 +BMGC_DS00247,BMG_DS000327,MONDO:0005084 | disease of mental health | UMLS ID:C0004936 | mental disorder | DOID:150 +BMGC_DS00248,BMG_DS000328,Behcet's disease | OMIM ID:109650 | Behcet disease | MeSH ID:D001528 | UMLS ID:C0004943 | Behcet Syndrome | MONDO:0007191 | DOID:13241 +BMGC_DS00249,BMG_DS000329,SNOMEDCT ID:240686008 | Nonvenereal endemic syphilis | SNOMEDCT ID:186978001 | Nonvenereal endemic syphilis (& [Bejel] or [Njovera]) | Treponemal Infections | DOID:13431 | MeSH ID:D014211 | MONDO:0007000;MONDO:0001714 | Njovera | Bejel (disorder) | bejel | Nonvenereal endemic syphilis (& [Bejel] or [Njovera]) (disorder) | Bejel | UMLS ID:C0004945 | Treponema infectious disease +BMGC_DS00250,BMG_DS000330,UMLS ID:C0004991 | MONDO:0002278 | benign colon neoplasm +BMGC_DS00251,BMG_DS000334,"Thiamin deficiency (disorder) | SNOMEDCT ID:35843007 | Thiamine deficiency | SNOMEDCT ID:154725000 | Beriberi, unspecified | Beriberi (disorder) | Vitamin B1 deficiency | Thiamine/niacin deficiency | beriberi | Beriberi | Pellagra | MeSH ID:D001602 | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] | Thiamin deficiency | MONDO:0006676 | SNOMEDCT ID:36656008 | Aneurin deficiency | Chastek's paralysis | ICD11 ID:5B5A.0Z | Beri-beri | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] (disorder) | DOID:13725 | SNOMEDCT ID:190625009 | SNOMEDCT ID:267491008 | UMLS ID:C0005122 | ICD10 ID:E51.1" +BMGC_DS00252,BMG_DS000335,Bernard-Soulier Syndrome | OMIM ID:231200 | DOID:2217 | MeSH ID:D001606 | Bernard-Soulier syndrome | MONDO:0009276 | UMLS ID:C0005129 +BMGC_DS00253,BMG_DS000337,DOID:10322 | berylliosis | UMLS ID:C0005138 +BMGC_DS00254,BMG_DS000339,Beta thalassemia (disorder) | beta-Thalassemia | MeSH ID:D017086 | DOID:12241 | Beta thalassaemia | UMLS ID:C0005283 | Beta thalassaemia syndrome | Beta thalassemia syndrome | Beta thalassemia | beta thalassaemia | beta Thalassemia | beta thalassemia | MONDO:0019402 | SNOMEDCT ID:65959000 +BMGC_DS00255,BMG_DS000340,Bile Duct Diseases | MeSH ID:D001649 | UMLS ID:C0005395 | MONDO:0002887 | bile duct disorder | DOID:4138 | bile duct disease +BMGC_DS00256,BMG_DS000341,bile duct neoplasm | DOID:4606 | UMLS ID:C0005396 | MONDO:0021662 | bile duct cancer +BMGC_DS00257,BMG_DS000342,"Cholestasis, Extrahepatic | extrahepatic cholestasis | UMLS ID:C0005398 | MeSH ID:D001651 | MONDO:0006757 | DOID:13619" +BMGC_DS00258,BMG_DS000343,Bile Reflux | MONDO:0006677 | DOID:12237 | UMLS ID:C0005403 | MeSH ID:D001655 | bile reflux +BMGC_DS00259,BMG_DS000344,MONDO:0008867 | UMLS ID:C0005411 | DOID:13608 | biliary atresia +BMGC_DS00260,BMG_DS000345,MONDO:0005667 | Biliary Dyskinesia | biliary dyskinesia | DOID:4140 | UMLS ID:C0005416 | MeSH ID:D001657 +BMGC_DS00261,BMG_DS000346,MeSH ID:D001660 | Biliary Tract Diseases | UMLS ID:C0005424 | biliary tract disease | DOID:9741 +BMGC_DS00262,BMG_DS000347,biliary tract neoplasm | biliary tract cancer | UMLS ID:C0005426 | MONDO:0005304 | DOID:4607 +BMGC_DS00263,BMG_DS000349,SNOMEDCT ID:83275001 | Binocular vision disorder (disorder) | binocular vision disease | Binocular vision disorder | UMLS ID:C0005461 | DOID:12667 | MONDO:0001564 +BMGC_DS00264,BMG_DS000350,DOID:3312 | UMLS ID:C0005586 | MONDO:0004985 | bipolar disorder +BMGC_DS00265,BMG_DS000351,bipolar disorder | DOID:3312 | UMLS ID:C0005587 | MONDO:0024613 | bipolar depression +BMGC_DS00266,BMG_DS000352,bird disease | UMLS ID:C0005591 | MeSH ID:D001715 | MONDO:0024905 | Bird Diseases +BMGC_DS00267,BMG_DS000353,bird fancier's lung | Bird Fancier's Lung | DOID:13891 | UMLS ID:C0005592 | MONDO:0005668 | MeSH ID:D001716 +BMGC_DS00268,BMG_DS000354,blackwater fever | MONDO:0005670 | UMLS ID:C0005681 | MeSH ID:D001742 | DOID:14068 | Blackwater Fever +BMGC_DS00269,BMG_DS000355,UMLS ID:C0005683 | DOID:11355 | MONDO:0006678 | Vesicolithiasis | Vesical calculus | SNOMEDCT ID:70650003 | Urinary bladder stone | Bladder stone | Bladder calculus | bladder calculus | Calculus of bladder | Urinary bladder stone (disorder) +BMGC_DS00270,BMG_DS000356,MONDO:0001187 | urinary bladder cancer | DOID:11054 | UMLS ID:C0005684 | OMIM ID:109800 +BMGC_DS00271,BMG_DS000357,DOID:365 | urinary bladder disorder | Urinary Bladder Diseases | MeSH ID:D001745 | bladder disease | MONDO:0006026 | UMLS ID:C0005686 +BMGC_DS00272,BMG_DS000358,UMLS ID:C0005689 | Bladder Exstrophy | bladder exstrophy | MeSH ID:D001746 | DOID:0080174 | MONDO:0010805 +BMGC_DS00273,BMG_DS000359,SNOMEDCT ID:197859007 | BNO - bladder neck obstruction | Obstruction of neck of urinary bladder | Obstruction of neck of urinary bladder (disorder) | Bladder neck obstruction | bladder neck obstruction | Bladder neck obstruction (& [contracture] or [stenosis] or [bladder outflow obstruction]) | Bladder neck obstruction (& [contracture] or [stenosis] or [bladder outflow obstruction]) (disorder) | BOO - Bladder outflow obstruction | Stenosis of bladder neck | Contracture of bladder neck | MONDO:0006679 | Bladder neck obstruction (disorder) | SNOMEDCT ID:155887006 | Vesicourethral orifice obstruction | BNO - Bladder neck obstruction | SNOMEDCT ID:399072004 | UMLS ID:C0005694 | DOID:13948 | SNOMEDCT ID:25220001 | Acquired bladder neck obstruction +BMGC_DS00274,BMG_DS000360,urinary bladder cancer | MONDO:0004987 | DOID:11054 | urinary bladder neoplasm | UMLS ID:C0005695 +BMGC_DS00275,BMG_DS000361,"DOID:12143 | neurogenic bladder | obsolete neurogenic bladder | UMLS ID:C0005697 | Urinary Bladder, Neurogenic | Neurogenic Urinary Bladder | MONDO:0001445 | MeSH ID:D001750" +BMGC_DS00276,BMG_DS000362,"MONDO:0006115 | blast phase chronic myelogenous leukemia, BCR-ABL1 positive | UMLS ID:C0005699" +BMGC_DS00277,BMG_DS000363,Gilchrist's disease | DOID:12663 | Blastomycosis (disorder) | Chicago disease | SNOMEDCT ID:154402000 | Infection by Blastomyces | MONDO:0005672 | SNOMEDCT ID:266217003 | (Other dermatophytosis) or (blastomycosis) | blastomycosis | (Other dermatophytosis) or (blastomycosis) (disorder) | Blastomycosis | MeSH ID:D001759 | ICD10 ID:B40 | North American blastomycosis | Other dermatophytosis | UMLS ID:C0005716 | Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American]) | Blastomycotic infection | SNOMEDCT ID:187064007 | Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American]) (disorder) | SNOMEDCT ID:69996000 +BMGC_DS00278,BMG_DS000364,UMLS ID:C0005717 | Gilchrist Disease | MeSH ID:D001759 | Blastomycosis +BMGC_DS00279,BMG_DS000369,Blepharitis | Infectious blepharitis | DOID:9423 | ICD10 ID:H01.0 | Inflammation of lid margin | Blepharitis (& [cellulitis of eyelids]) (disorder) | Blepharitis (& [cellulitis of eyelids]) | blepharitis | UMLS ID:C0005741 | SNOMEDCT ID:155171006 | SNOMEDCT ID:41446000 | Marginal blepharitis | Blepharitis (disorder) | SNOMEDCT ID:193907001 | ICD11 ID:9A01.3 | MONDO:0004785 | SNOMEDCT ID:193908006 | MeSH ID:D001762 | OMIM ID:MTHU036409 | Cellulitis of eyelids | SNOMEDCT ID:155170007 +BMGC_DS00280,BMG_DS000370,SNOMEDCT ID:193944001 | Blepharochalasis (disorder) | Blepharochalasis | OMIM ID:MTHU037413 | SNOMEDCT ID:267650003 | DOID:348 | SNOMEDCT ID:193962005 | Fuchs' syndrome II | UMLS ID:C0005742 | (Blepharochalasis) or (pseudoptosis) | MONDO:0002660 | SNOMEDCT ID:47704002 | Dermatolysis palpebrarum | ICD10 ID:H02.3 | blepharochalasis | Pseudoptosis | (Blepharochalasis) or (pseudoptosis) (disorder) | ICD11 ID:9A06.8 +BMGC_DS00281,BMG_DS000371,ICD10 ID:H10.5 | blepharoconjunctivitis | MONDO:0002307 | OMIM ID:MTHU070232 | UMLS ID:C0005743 | DOID:2456 | Blepharoconjunctivitis (disorder) | SNOMEDCT ID:68659002 | ICD11 ID:9A60.4 | Blepharoconjunctivitis | SNOMEDCT ID:155164001 +BMGC_DS00282,BMG_DS000372,UMLS ID:C0005744 | MONDO:0001008 | DOID:10348 | blepharophimosis +BMGC_DS00283,BMG_DS000373,SNOMEDCT ID:204197004 | DOID:0060260 | MONDO:0000728 | Congenital ptosis | Drooping eyelid | Ptosis of eyelid (disorder) | Droopy eyelid | (Congenital ptosis) or (blepharoptosis) | (Congenital ptosis) or (blepharoptosis) (disorder) | ptosis | SNOMEDCT ID:11934000 | Ptosis | Ptosis eyelid | UMLS ID:C0005745 | Blepharoptosis | OMIM ID:MTHU000860 | MeSH ID:D001763 | Ptosis of eyelid +BMGC_DS00284,BMG_DS000374,Spasm of eyelids | Benign essential blepharospasm | Organic restless legs | SNOMEDCT ID:155009007 | UMLS ID:C0005747 | blepharospasm | Blepharospasm (disorder) | Restless legs - organic | Essential blepharospasm | Organic writers' cramp | Writer's cramp-organic | Myoclonic jerks | DOID:529 | Blepharospasm | Choreo-athetosis | MeSH ID:D001764 | Jerks - myoclonic | SNOMEDCT ID:59026006 | Spasmodic torticollis | (Extrapyramidal disease NOS) or (blepharospasm) or (choreo-athetosis) or (writer's cramp - organic) or (myoclonic jerks) or (spasmodic torticollis) (disorder) | OMIM ID:MTHU036688 | SNOMEDCT ID:267690000 | ICD11 ID:8A02.00 | Writer's cramp -organic | Extrapyramidal disease NOS | (Extrapyramidal disease NOS) or (blepharospasm) or (choreo-athetosis) or (writer's cramp - organic) or (myoclonic jerks) or (spasmodic torticollis) | Blepharospasm (spasm of eyelid) | ICD10 ID:G24.5 +BMGC_DS00285,BMG_DS000375,DOID:10606 | MeSH ID:D001765 | blind loop syndrome | MONDO:0005673 | Blind Loop Syndrome | UMLS ID:C0005750 +BMGC_DS00286,BMG_DS000376,MeSH ID:D001778 | DOID:1247 | Blood Coagulation Disorders | UMLS ID:C0005779 | blood coagulation disease | MONDO:0001531 +BMGC_DS00287,BMG_DS000377,MONDO:0002901 | blood group incompatibility | UMLS ID:C0005806 | DOID:4176 +BMGC_DS00288,BMG_DS000378,"MeSH ID:D001791 | blood platelet disease | inherited bleeding disorder, platelet-type | DOID:2218 | UMLS ID:C0005818 | MONDO:0000009 | Blood Platelet Disorders" +BMGC_DS00289,BMG_DS000379,Blood Protein Disorders | DOID:620 | MONDO:0003804 | blood protein disease | UMLS ID:C0005830 | obsolete blood protein disease | MeSH ID:D001796 +BMGC_DS00290,BMG_DS000380,MONDO:0008876 | Bloom Syndrome | OMIM ID:210900 | UMLS ID:C0005859 | MeSH ID:D001816 | DOID:2717 | Bloom syndrome +BMGC_DS00291,BMG_DS000383,UMLS ID:C0005940 | MONDO:0005381 | Bone Diseases | DOID:0080001 | MeSH ID:D001847 | bone disorder | bone disease +BMGC_DS00292,BMG_DS000384,"MONDO:0005497 | Bone Diseases, Developmental | MeSH ID:D001848 | UMLS ID:C0005941 | bone development disease" +BMGC_DS00293,BMG_DS000385,"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,MeSH ID:D001855 | UMLS ID:C0005956 | Bone Marrow Diseases | bone marrow disease | DOID:4961 +BMGC_DS00296,BMG_DS000389,UMLS ID:C0005967 | DOID:184 | bone cancer +BMGC_DS00297,BMG_DS000390,MONDO:0000837 | bone resorption disease | UMLS ID:C0005974 +BMGC_DS00298,BMG_DS000392,MONDO:0001156 | DOID:10930 | UMLS ID:C0006012 | borderline personality disorder +BMGC_DS00299,BMG_DS000393,MeSH ID:D001885 | UMLS ID:C0006015 | Bordetella Infections | pertussis | DOID:1116 | MONDO:0037872 | bordetellosis +BMGC_DS00300,BMG_DS000394,borna disease | MeSH ID:D001890 | UMLS ID:C0006023 | DOID:5154 | Borna Disease | MONDO:0005676 +BMGC_DS00301,BMG_DS000397,MONDO:0005498 | DOID:11976 | UMLS ID:C0006057 | botulism +BMGC_DS00302,BMG_DS000398,UMLS ID:C0006060 | Boutonneuse Fever | DOID:14095 | boutonneuse fever | MeSH ID:D001907 | MONDO:0024472 +BMGC_DS00303,BMG_DS000400,MONDO:0020761 | UMLS ID:C0006079 | Bowen disease of the skin +BMGC_DS00304,BMG_DS000401,brachial plexus lesion | UMLS ID:C0006091 | MONDO:0004569 | DOID:8443 | SNOMEDCT ID:3548001 | Brachial plexus disorder (disorder) | Brachial plexus disorder | Brachial plexus lesion | brachial plexus neuropathy from injury | Brachial plexus neuropathy | BPN - Brachial plexus neuropathy +BMGC_DS00305,BMG_DS000402,Brain Abscess | MeSH ID:D001922 | UMLS ID:C0006105 +BMGC_DS00306,BMG_DS000403,"UMLS ID:C0006109 | MeSH ID:D001925 | Brain Damage, Chronic" +BMGC_DS00307,BMG_DS000404,UMLS ID:C0006111 | brain disorder | MeSH ID:D001927 | MONDO:0005560 | Brain Diseases | DOID:936 | brain disease +BMGC_DS00308,BMG_DS000405,"MeSH ID:D001928 | UMLS ID:C0006112 | Brain Diseases, Metabolic" +BMGC_DS00309,BMG_DS000406,UMLS ID:C0006114 | MONDO:0006684 | brain edema +BMGC_DS00310,BMG_DS000407,brain cancer | MONDO:0021211 | DOID:1319 | brain neoplasm | UMLS ID:C0006118 +BMGC_DS00311,BMG_DS000408,UMLS ID:C0006123 | Retinal Artery Occlusion | DOID:13094 | Branch Retinal Artery Occlusion | MeSH ID:D015356 | MONDO:0001630 | branch retinal artery occlusion +BMGC_DS00312,BMG_DS000409,MONDO:0007254 | breast cancer | UMLS ID:C0006142 | DOID:1612 +BMGC_DS00313,BMG_DS000410,DOID:10350 | breast cyst | UMLS ID:C0006144 | MONDO:0001011 +BMGC_DS00314,BMG_DS000411,Breast Diseases | MONDO:0002657 | DOID:3463 | MeSH ID:D001941 | UMLS ID:C0006145 | breast disorder | breast disease +BMGC_DS00315,BMG_DS000413,"DOID:11254 | MeSH ID:D014438 | Brill-Zinsser Disease | Brill-Zinsser disease | MONDO:0005680 | UMLS ID:C0006181 | Typhus, Epidemic Louse-Borne" +BMGC_DS00316,BMG_DS000415,bronchial disease | Bronchial Diseases | bronchial disorder | DOID:1176 | MONDO:0001358 | UMLS ID:C0006261 | MeSH ID:D001982 +BMGC_DS00317,BMG_DS000416,MONDO:0002807 | UMLS ID:C0006264 | bronchial neoplasm | bronchial benign neoplasm | DOID:3906 +BMGC_DS00318,BMG_DS000417,(Bronchospasm) or (O/E - rhonchi (& present)) | O/E - rhonchi present | SNOMEDCT ID:269012003 | (Bronchospasm) or (O/E - rhonchi (& present)) (finding) | Bronchospasm (disorder) | Bronchial spasm | Bronchospasm (finding) | Bronchospasm | OMIM ID:MTHU001731 | UMLS ID:C0006266 | MeSH ID:D001986 | SNOMEDCT ID:4386001 | SNOMEDCT ID:196175000 | O/E - rhonchi | SNOMEDCT ID:140179000 | Bronchial Spasm +BMGC_DS00319,BMG_DS000418,SNOMEDCT ID:155580000 | SNOMEDCT ID:12295008 | Bronchiectasis | DOID:9563 | MONDO:0004822 | Bronchiectasis (disorder) | UMLS ID:C0006267 | ICD10 ID:J47 | OMIM ID:MTHU037263 | MeSH ID:D001987 | bronchiectasis +BMGC_DS00320,BMG_DS000419,MeSH ID:D001988 | SNOMEDCT ID:4120002 | bronchiolitis | Bronchiolitis | DOID:2942 | OMIM ID:MTHU004683 | MONDO:0002465 | UMLS ID:C0006271 | Bronchiolitis (disorder) +BMGC_DS00321,BMG_DS000420,Bronchiolitis Obliterans | UMLS ID:C0006272 | bronchiolitis obliterans | bronchiolitis obliterans syndrome | DOID:2799 | MONDO:0015265 | MeSH ID:D001989 +BMGC_DS00322,BMG_DS000421,"Bronchiolitis, Viral | MeSH ID:D001990 | UMLS ID:C0006274" +BMGC_DS00323,BMG_DS000422,MeSH ID:D001991 | Bronchitis | bronchitis | Bronchitis (disorder) | UMLS ID:C0006277 | SNOMEDCT ID:32398004 | DOID:6132 | MONDO:0003781 | OMIM ID:MTHU004684 +BMGC_DS00324,BMG_DS000424,SNOMEDCT ID:67814005 | bronchopneumonia | MeSH ID:D001996 | Bronchial pneumonia | MONDO:0005682 | UMLS ID:C0006285 | DOID:12375 | Lobular pneumonia | SNOMEDCT ID:396285007 | SNOMEDCT ID:155551009 | Segmental pneumonia | Bilateral bronchopneumonia | Bronchopneumonia | Bronchopneumonia (disorder) +BMGC_DS00325,BMG_DS000425,Bronchopulmonary Dysplasia | UMLS ID:C0006287 | DOID:11650 | MONDO:0019091 | bronchopulmonary dysplasia | MeSH ID:D001997 +BMGC_DS00326,BMG_DS000426,Malta fever | MeSH ID:D002006 | brucellosis | SNOMEDCT ID:75702008 | MONDO:0005683 | DOID:11077 | Undulant fever | Brucellosis (disorder) | SNOMEDCT ID:154296006 | UMLS ID:C0006309 | Gibraltar fever | ICD10 ID:A23 | Cyprus fever | Brucellosis | Mediterranean fever | Rock fever +BMGC_DS00327,BMG_DS000427,MONDO:0002443 | bruxism | UMLS ID:C0006325 | DOID:2846 +BMGC_DS00328,BMG_DS000428,DOID:12129 | bulimia nervosa | UMLS ID:C0006370 +BMGC_DS00329,BMG_DS000429,UMLS ID:C0006384 | Bundle-Branch Block | MeSH ID:D002037 +BMGC_DS00330,BMG_DS000430,Hookworm Infections | UMLS ID:C0006389 | Bunostomiasis | MeSH ID:D006725 +BMGC_DS00331,BMG_DS000433,OMIM ID:113970 | DOID:8584 | Burkitt lymphoma | MONDO:0007243 | UMLS ID:C0006413 +BMGC_DS00332,BMG_DS000435,burning mouth syndrome | MONDO:0006687 | Burning Mouth Syndrome | MeSH ID:D002054 | DOID:4331 | UMLS ID:C0006430 +BMGC_DS00333,BMG_DS000436,Inflammation of bursa | Bursitis (disorder) | SNOMEDCT ID:84017003 | MONDO:0002471 | UMLS ID:C0006444 | SNOMEDCT ID:156677003 | bursitis | MeSH ID:D002062 | DOID:2965 | Bursitis +BMGC_DS00334,BMG_DS000437,Cotton workers' lung disease | SNOMEDCT ID:266400008 | DOID:10323 | Asbestosis | ICD10 ID:J66.0 | SNOMEDCT ID:155589004 | MeSH ID:D002095 | ICD11 ID:CA80.0 | Byssinosis | SNOMEDCT ID:85761009 | (Asbestosis) or (byssinosis) or (pleural plaque disease) | MONDO:0006688 | UMLS ID:C0006542 | Pleural plaque disease | Mill fever | Byssinosis due to exposure to cotton | (Asbestosis) or (byssinosis) or (pleural plaque disease) (disorder) | Cotton-dust asthma | byssinosis | Byssinosis (disorder) +BMGC_DS00335,BMG_DS000438,MONDO:0002123 | calcinosis | UMLS ID:C0006663 | DOID:182 +BMGC_DS00336,BMG_DS000440,Calciphylaxis (disorder) | DOID:4734 | MONDO:0017215 | UMLS ID:C0006666 | calciphylaxis | SNOMEDCT ID:237900002 | MeSH ID:D002115 | Calciphylaxis +BMGC_DS00337,BMG_DS000441,MeSH ID:D002128 | calcium metabolism disease | UMLS ID:C0006705 | DOID:10575 | MONDO:0005557 | Calcium Metabolism Disorders | calcium metabolic disease +BMGC_DS00338,BMG_DS000442,UMLS ID:C0006739 | DOID:10211 | cholelithiasis +BMGC_DS00339,BMG_DS000445,campylobacteriosis | MONDO:0005688 | DOID:13622 | UMLS ID:C0006818 +BMGC_DS00340,BMG_DS000446,cancer | UMLS ID:C0006826 | DOID:162 | MONDO:0004992 +BMGC_DS00341,BMG_DS000447,Candidiasis (disorder) | Thrush | SNOMEDCT ID:154403005 | Moniliasis | Candida infection | Infection by Candida | ICD10 ID:B37 | Candidosis | OMIM ID:MTHU042170 | SNOMEDCT ID:78048006 | SNOMEDCT ID:187005005 | UMLS ID:C0006840 | MeSH ID:D002177 | Monilia infection | MONDO:0002026 | DOID:1508 | candidiasis | Candidiasis +BMGC_DS00342,BMG_DS000448,Candidiasis of skin and nails | Candidiasis of skin and nails (disorder) | DOID:14512 | UMLS ID:C0006842 | SNOMEDCT ID:187014000 | candidal paronychia +BMGC_DS00343,BMG_DS000449,"chronic mucocutaneous candidiasis | UMLS ID:C0006845 | Candidiasis, Chronic Mucocutaneous | MONDO:0015279 | MeSH ID:D002178 | DOID:2058" +BMGC_DS00344,BMG_DS000450,MONDO:0000879 | UMLS ID:C0006846 | cutaneous candidiasis +BMGC_DS00345,BMG_DS000451,SNOMEDCT ID:29147005 | Mucocutaneous candidiasis (disorder) | Candida infection of skin and mucous membranes | OMIM ID:MTHU014262 | Mucocutaneous candidiasis | UMLS ID:C0006848 +BMGC_DS00346,BMG_DS000452,Candidiasis: [oral and esophagus] or [pharyngeal] | Candida of mouth | Thrush of mouth and esophagus | Thrush of mouth and oesophagus | UMLS ID:C0006849 | Mycotic stomatitis | Moniliasis of mouth | Candidiasis of mouth (disorder) | Candidosis of mouth | Pharyngeal candidiasis | MONDO:0005886 | OMIM ID:MTHU017529 | Oral candidiasis | Candidiasis of mouth and esophagus | Monilia of mouth and esophagus | SNOMEDCT ID:187006006 | Candida infection of mouth | Monilia of mouth and oesophagus | DOID:14262 | oral candidiasis | Oral candidosis | Candidiasis of mouth | SNOMEDCT ID:367093001 | Candidiasis of mouth and oesophagus | Candidiasis: [oral and oesophagus] or [pharyngeal] | Oral candidiasis (disorder) | Oral moniliasis | Oral thrush | Candidiasis: [oral and oesophagus] or [pharyngeal] (disorder) | SNOMEDCT ID:79740000 +BMGC_DS00347,BMG_DS000453,Vaginal candida | Monilial infection of vagina | Vaginal thrush | Vaginal candidosis | Candidiasis of vagina (disorder) | Vaginal candidiasis | Candidiasis of vagina | UMLS ID:C0006852 | SNOMEDCT ID:72934000 | Candida of vagina +BMGC_DS00348,BMG_DS000455,DOID:9505 | UMLS ID:C0006868 | cannabis abuse +BMGC_DS00349,BMG_DS000456,DOID:1849 | UMLS ID:C0006870 | MONDO:0005689 | cannabis dependence +BMGC_DS00350,BMG_DS000457,Capgras syndrome | DOID:6680 | UMLS ID:C0006895 | MONDO:0003965 +BMGC_DS00351,BMG_DS000458,capillariasis | Enoplida Infections | Capillaria infection (disorder) | UMLS ID:C0006897 | Enoplea infectious disease | Capillariosis | Capillariasis | DOID:12474 | SNOMEDCT ID:52979002 | MONDO:0001532;MONDO:0005745 | MeSH ID:D017189 | Capillaria infection +BMGC_DS00352,BMG_DS000461,DOID:10326 | Caplan Syndrome | Caplan syndrome | MeSH ID:D002205 | Caplan's syndrome | UMLS ID:C0006915 | MONDO:0005690 +BMGC_DS00353,BMG_DS000462,"UMLS ID:C0007001 | DOID:2978 | Carbohydrate Metabolism, Inborn Errors | MONDO:0019214 | inborn carbohydrate metabolic disorder | carbohydrate metabolic disorder | MeSH ID:D002239" +BMGC_DS00354,BMG_DS000464,DOID:2176 | carbuncle | UMLS ID:C0007079 +BMGC_DS00355,BMG_DS000467,UMLS ID:C0007097 | DOID:305 | MONDO:0004993 | carcinoma +BMGC_DS00356,BMG_DS000468,DOID:8719 | MONDO:0004647 | in situ carcinoma | UMLS ID:C0007099 +BMGC_DS00357,BMG_DS000469,malignant colon neoplasm | MONDO:0021063 | UMLS ID:C0007102 | DOID:219 | colon cancer +BMGC_DS00358,BMG_DS000470,MONDO:0011962 | DOID:1380 | endometrial cancer | OMIM ID:608089 | UMLS ID:C0007103 +BMGC_DS00359,BMG_DS000471,MONDO:0004379 | DOID:7843 | UMLS ID:C0007104 | female breast carcinoma +BMGC_DS00360,BMG_DS000472,DOID:2596 | larynx cancer | MONDO:0002352 | UMLS ID:C0007107 +BMGC_DS00361,BMG_DS000473,prostate adenocarcinoma | DOID:2526 | MONDO:0005082 | UMLS ID:C0007112 +BMGC_DS00362,BMG_DS000474,rectum cancer | MONDO:0044937 | UMLS ID:C0007113 | DOID:1993 | rectal carcinoma +BMGC_DS00363,BMG_DS000475,skin cancer | MONDO:0002898 | DOID:4159 | UMLS ID:C0007114 +BMGC_DS00364,BMG_DS000476,MONDO:0002108 | DOID:1781 | UMLS ID:C0007115 | thyroid cancer +BMGC_DS00365,BMG_DS000477,UMLS ID:C0007117 | basal cell carcinoma | MONDO:0020804 | DOID:2513 +BMGC_DS00366,BMG_DS000478,MONDO:0003264 | basosquamous carcinoma | UMLS ID:C0007118 | DOID:5063 +BMGC_DS00367,BMG_DS000479,bronchiolo-alveolar adenocarcinoma | MONDO:0004991 | DOID:4926 | UMLS ID:C0007120 | minimally invasive lung adenocarcinoma +BMGC_DS00368,BMG_DS000480,bronchus carcinoma | UMLS ID:C0007121 | DOID:3904 | MONDO:0002806 | bronchogenic carcinoma +BMGC_DS00369,BMG_DS000481,UMLS ID:C0007124 | ductal breast carcinoma in situ | MONDO:0005023 +BMGC_DS00370,BMG_DS000482,DOID:5050 | UMLS ID:C0007125 | Ehrlich tumor carcinoma | MONDO:0006739 +BMGC_DS00371,BMG_DS000484,cutaneous neuroendocrine carcinoma | MONDO:0019210 | UMLS ID:C0007129 +BMGC_DS00372,BMG_DS000485,DOID:3030 | UMLS ID:C0007130 | MONDO:0004957 | mucinous adenocarcinoma +BMGC_DS00373,BMG_DS000486,MONDO:0005233 | lung non-small cell carcinoma | UMLS ID:C0007131 | non-small cell lung carcinoma | DOID:3908 +BMGC_DS00374,BMG_DS000487,papillary carcinoma | UMLS ID:C0007133 | MONDO:0006509 | DOID:3113 +BMGC_DS00375,BMG_DS000488,DOID:4450 | MONDO:0005086 | renal cell carcinoma | UMLS ID:C0007134 +BMGC_DS00376,BMG_DS000489,UMLS ID:C0007135 | MONDO:0005953 | scirrhous adenocarcinoma | DOID:4024 +BMGC_DS00377,BMG_DS000490,DOID:1749 | squamous cell carcinoma | UMLS ID:C0007137 | MONDO:0005096 +BMGC_DS00378,BMG_DS000491,UMLS ID:C0007138 | DOID:2671 | MONDO:0006474 | transitional cell carcinoma +BMGC_DS00379,BMG_DS000492,DOID:4236 | MONDO:0002928 | carcinosarcoma | UMLS ID:C0007140 +BMGC_DS00380,BMG_DS000493,MeSH ID:D002305 | cardiac tamponade | DOID:115 | UMLS ID:C0007177 | Cardiac Tamponade | MONDO:0001297 +BMGC_DS00381,BMG_DS000494,"Cardiomyopathy, Alcoholic | DOID:12935 | alcoholic cardiomyopathy | MONDO:0006643 | MeSH ID:D002310 | UMLS ID:C0007192" +BMGC_DS00382,BMG_DS000495,"DOID:12930 | MeSH ID:D002311 | MONDO:0005021 | dilated cardiomyopathy | Cardiomyopathy, Dilated | UMLS ID:C0007193" +BMGC_DS00383,BMG_DS000496,"MONDO:0005045 | Cardiomyopathy, Hypertrophic | MeSH ID:D002312 | DOID:11984 | Hypertrophic Cardiomyopathy | UMLS ID:C0007194 | hypertrophic cardiomyopathy" +BMGC_DS00384,BMG_DS000497,restrictive cardiomyopathy | DOID:397 | Primary restrictive cardiomyopathy | Constrictive cardiomyopathy | SNOMEDCT ID:389996009 | OMIM ID:MTHU002870 | UMLS ID:C0007196 | Primary restrictive cardiomyopathy (disorder) | SNOMEDCT ID:415295002 | Restrictive cardiomyopathy (disorder) | MONDO:0005201 | SNOMEDCT ID:90828009 | Restrictive cardiomyopathy +BMGC_DS00385,BMG_DS000498,MeSH ID:D002318 | DOID:1287 | MONDO:0004995 | Cardiovascular Diseases | cardiovascular disorder | UMLS ID:C0007222 | cardiovascular system disease +BMGC_DS00386,BMG_DS000499,carotid artery disorder | UMLS ID:C0007273 | carotid artery disease | MeSH ID:D002340 | Carotid Artery Diseases | MONDO:0005269 | DOID:3407 +BMGC_DS00387,BMG_DS000500,UMLS ID:C0007274 | MONDO:0006690 | DOID:3410 | MeSH ID:D002341 | carotid artery thrombosis | Carotid Artery Thrombosis +BMGC_DS00388,BMG_DS000502,Carotid Stenosis | MeSH ID:D016893 | DOID:13001 | MONDO:0001612 | carotid stenosis | UMLS ID:C0007282 +BMGC_DS00389,BMG_DS000504,Carpal Tunnel Syndrome | MeSH ID:D002349 | UMLS ID:C0007286 | MONDO:0007275 | carpal tunnel syndrome | DOID:12169 +BMGC_DS00390,BMG_DS000505,UMLS ID:C0007297 | Carsickness | MeSH ID:D009041 | Motion Sickness +BMGC_DS00391,BMG_DS000506,cartilage disease | obsolete cartilage disease | UMLS ID:C0007302 | DOID:1222 | MONDO:0005569 | Cartilage Diseases | MeSH ID:D002357 +BMGC_DS00392,BMG_DS000507,MeSH ID:D002371 | MONDO:0024912 | cat disease | UMLS ID:C0007350 | Cat Diseases +BMGC_DS00393,BMG_DS000508,DOID:11258 | Cat-Scratch Disease | UMLS ID:C0007361 | MeSH ID:D002372 | MONDO:0005692 | cat-scratch disease +BMGC_DS00394,BMG_DS000509,Cataplexy | UMLS ID:C0007384 | Cataplexy (disorder) | SNOMEDCT ID:46263000 | OMIM ID:MTHU003011 | MeSH ID:D002385 +BMGC_DS00395,BMG_DS000511,UMLS ID:C0007398 | catatonia | MONDO:0800105 +BMGC_DS00396,BMG_DS000512,MeSH ID:D002418 | UMLS ID:C0007453 | MONDO:0024913 | cattle disease | Cattle Diseases +BMGC_DS00397,BMG_DS000514,"SNOMEDCT ID:267705008 | DOID:3222 | SNOMEDCT ID:66056001 | MONDO:0020572 | MeSH ID:D002422 | Complex regional pain syndrome, type II | SNOMEDCT ID:408751001 | Complex regional pain syndrome, type II (disorder) | SNOMEDCT ID:155074001 | Other mononeuritis upper limb &/or causalgia | Causalgia | Complex regional pain syndrome type II | Causalgia (finding) | complex regional pain syndrome type 2 | Other upper limb mononeuritis | causalgia | CRPS - Complex regional pain syndrome type II | Deafferentation pain | UMLS ID:C0007462 | Causalgia (disorder) | Other mononeuritis upper limb &/or causalgia (disorder) | SNOMEDCT ID:247397004 | Other mononeuritis -upper limb" +BMGC_DS00398,BMG_DS000515,cecal disorder | UMLS ID:C0007527 | DOID:1518 | MONDO:0002031 | cecal disease | MeSH ID:D002429 | Cecal Diseases +BMGC_DS00399,BMG_DS000516,MONDO:0005694 | cecal benign neoplasm | cecal neoplasm | DOID:1517 | UMLS ID:C0007528 +BMGC_DS00400,BMG_DS000517,UMLS ID:C0007570 | MONDO:0005130 | MeSH ID:D002446 | Celiac Disease | celiac disease | DOID:10608 +BMGC_DS00401,BMG_DS000518,SNOMEDCT ID:128045006 | Phlegmon | DOID:3488 | Cellulitis (disorder) | UMLS ID:C0007642 | Phlegmonous cellulitis | cellulitis | MeSH ID:D002481 | SNOMEDCT ID:385627004 | OMIM ID:MTHU034281 | MONDO:0005230 | SNOMEDCT ID:191132005 | Cellulitis | Cellulitis (morphologic abnormality) | SNOMEDCT ID:74276003 +BMGC_DS00402,BMG_DS000519,tinea unguium | UMLS ID:C0007644 | DOID:13074 +BMGC_DS00403,BMG_DS000521,DOID:3488 | SNOMEDCT ID:156313004 | SNOMEDCT ID:267833003 | Cellulitis of hand | Cellulitis -hand (& -excl. finger) (disorder) | Cellulitis - hand | SNOMEDCT ID:62837005 | Cellulitis of hand excluding finger | Cellulitis -hand -excl. finger | Cellulitis -hand (& -excl. finger) | cellulitis | Cellulitis of hand (disorder) | UMLS ID:C0007646 +BMGC_DS00404,BMG_DS000523,CNS disorder (disorder) | SNOMEDCT ID:275539005 | SNOMEDCT ID:267144009 | SNOMEDCT ID:138748005 | CNS disorder (& H/O) or H/O: brain disorder (disorder) | DOID:331 | CNS disorder (& H/O) or H/O: brain disorder | H/O: CNS disorder | H/O: brain disorder | CNS disorder | central nervous system disease | UMLS ID:C0007682 +BMGC_DS00405,BMG_DS000524,Central Nervous System Infection | MeSH ID:D002494 | Central Nervous System Infections | UMLS ID:C0007684 +BMGC_DS00406,BMG_DS000525,Retinal Artery Occlusion | MeSH ID:D015356 | DOID:13098 | Central Retinal Artery Occlusion | central retinal artery occlusion | MONDO:0001633 | UMLS ID:C0007688 +BMGC_DS00407,BMG_DS000528,UMLS ID:C0007758 | Cerebellar Ataxia | MeSH ID:D002524 | DOID:0050753 | MONDO:0000437 | cerebellar ataxia +BMGC_DS00408,BMG_DS000529,cerebellar disease | MeSH ID:D002526 | DOID:2786 | UMLS ID:C0007760 | cerebellar disorder | Cerebellar Diseases | MONDO:0002427 +BMGC_DS00409,BMG_DS000530,Myoclonic Cerebellar Dyssynergia | UMLS ID:C0007761 | myoclonic cerebellar dyssynergia | MeSH ID:D002527 | DOID:12707 +BMGC_DS00410,BMG_DS000531,cerebellar neoplasm | cerebellum cancer | MONDO:0002913 | UMLS ID:C0007762 | DOID:4205 +BMGC_DS00411,BMG_DS000532,UMLS ID:C0007766 | DOID:10941 | MeSH ID:D002532 | intracranial aneurysm | Intracranial Aneurysm +BMGC_DS00412,BMG_DS000533,DOID:13097 | intracranial arteriosclerosis | Intracranial Arteriosclerosis | MeSH ID:D002537 | MONDO:0001632 | UMLS ID:C0007771 +BMGC_DS00413,BMG_DS000534,UMLS ID:C0007772 | DOID:0060688 | arteriovenous malformations of the brain +BMGC_DS00414,BMG_DS000535,SNOMEDCT ID:28366008 | UMLS ID:C0007773 | Cerebral arteritis (disorder) | cerebral arteritis | MONDO:0001277 | DOID:11390 | Cerebral arteritis +BMGC_DS00415,BMG_DS000536,MONDO:0006693 | MeSH ID:D002539 | UMLS ID:C0007774 | cerebral arterial disease | Cerebral Arterial Diseases | DOID:3527 +BMGC_DS00416,BMG_DS000537,UMLS ID:C0007775 | Cerebral Atherosclerosis | MONDO:0006694 | cerebral atherosclerosis | Intracranial Arteriosclerosis | MeSH ID:D002537 | DOID:12720 +BMGC_DS00417,BMG_DS000538,intracranial embolism | MeSH ID:D020766 | Intracranial Embolism | Cerebral Embolism | UMLS ID:C0007780 | DOID:4372 +BMGC_DS00418,BMG_DS000539,UMLS ID:C0007781 | Intracranial Embolism and Thrombosis | MeSH ID:D002542 +BMGC_DS00419,BMG_DS000540,UMLS ID:C0007785 | MeSH ID:D002544 | Cerebral Infarction | MONDO:0002679 | cerebral infarction | DOID:3526 +BMGC_DS00420,BMG_DS000541,UMLS ID:C0007786 | brain ischemia | Brain Ischemia | MeSH ID:D002545 | DOID:2316 +BMGC_DS00421,BMG_DS000542,"MONDO:0005264 | transient cerebral ischemia | Transient Ischemic Attack | Ischemic Attack, Transient | DOID:224 | UMLS ID:C0007787 | transient ischemic attack | MeSH ID:D002546" +BMGC_DS00422,BMG_DS000543,DOID:10742 | Cerebral lipidosis (disorder) | SNOMEDCT ID:16517004 | UMLS ID:C0007788 | cerebral lipidosis | Cerebral lipidosis +BMGC_DS00423,BMG_DS000544,MeSH ID:D002547 | Cerebral Palsy | MONDO:0006497 | DOID:1969 | UMLS ID:C0007789 | cerebral palsy +BMGC_DS00424,BMG_DS000545,Balo concentric sclerosis | DOID:0060215 | Diffuse Cerebral Sclerosis of Schilder | MONDO:0010085 | UMLS ID:C0007795 | OMIM ID:272100 | MeSH ID:D002549 | Schilder disease +BMGC_DS00425,BMG_DS000546,cerebral ventricle cancer | DOID:3541 | UMLS ID:C0007798 | MONDO:0002682 +BMGC_DS00426,BMG_DS000547,Epidemic meningitis | Meningococcal meningitis | Meningococcal meningitis (disorder) | SNOMEDCT ID:192644005 | Cerebrospinal meningitis | Meningococcal cerebrospinal fever | UMLS ID:C0007813 | SNOMEDCT ID:28476005 +BMGC_DS00427,BMG_DS000550,MeSH ID:D002561 | cerebrovascular disease | cerebrovascular disorder | MONDO:0011057 | Cerebrovascular Disorders | DOID:6713 | UMLS ID:C0007820 +BMGC_DS00428,BMG_DS000551,UMLS ID:C0007832 | SNOMEDCT ID:193496008 | Certain types of iridocyclitis (disorder) | DOID:9383 | Certain types of iridocyclitis | iridocyclitis +BMGC_DS00429,BMG_DS000552,cervical cancer | DOID:4362 | UMLS ID:C0007847 +BMGC_DS00430,BMG_DS000553,MeSH ID:D008881 | UMLS ID:C0007852 | Migraine Disorders | Cervical Migraine Syndrome +BMGC_DS00431,BMG_DS000556,DOID:2568 | Uterine Cervicitis | UMLS ID:C0007860 | MONDO:0002345 | cervicitis | MeSH ID:D002575 +BMGC_DS00432,BMG_DS000557,DOID:2568 | cervicitis | UMLS ID:C0007861 +BMGC_DS00433,BMG_DS000558,MeSH ID:D020968 | Cervico-Brachial Neuralgia | UMLS ID:C0007862 | Brachial Plexus Neuritis +BMGC_DS00434,BMG_DS000560,UMLS ID:C0007867 | MONDO:0002256 | cervix disorder | cervix disease | Uterine Cervical Diseases | Cervix Diseases | DOID:2253 | MeSH ID:D002577 +BMGC_DS00435,BMG_DS000562,cervix erosion | UMLS ID:C0007869 | DOID:3456 | Cervix Erosion | MeSH ID:D002579 | Uterine Cervical Erosion +BMGC_DS00436,BMG_DS000564,UMLS ID:C0007871 | MONDO:0005698 | DOID:9681 | cervical incompetence +BMGC_DS00437,BMG_DS000565,UMLS ID:C0007873 | MONDO:0021230 | uterine cervix neoplasm | cervical cancer | DOID:4362 +BMGC_DS00438,BMG_DS000569,chalazion | UMLS ID:C0007933 | meibomian cyst | MONDO:0005844 | DOID:9903 | Chalazion | Meibomian Cyst | MeSH ID:D017043 +BMGC_DS00439,BMG_DS000570,DOID:4166 | syphilis | UMLS ID:C0007939 +BMGC_DS00440,BMG_DS000572,ICD10 ID:A57 | Ducrey's chancre | SNOMEDCT ID:266143009 | Trench mouth | 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) | UMLS ID:C0007947 | Lymphogranuloma venereum | MeSH ID:D002602 | Angina - Vincents | Other venereal/spirochaete disease | (Chancroid [& bubo]) or (Ducrey's chancre) | Leptospirosis | SNOMEDCT ID:266213004 | Chancroid | SNOMEDCT ID:87429008 | SNOMEDCT ID:186945008 | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | Chancroid (disorder) | Yaws | Vincent's angina | Soft chancre - chancroid | Weil's disease | Other venereal/spirochaete dis | Soft sore - chancroid | DOID:13778 | MONDO:0001797 | chancroid | (Chancroid [& bubo]) or (Ducrey's chancre) (disorder) | SNOMEDCT ID:154391003 | Chancroidal bubo +BMGC_DS00441,BMG_DS000573,MeSH ID:D002607 | Charcot-Marie-Tooth Disease | DOID:10595 | Charcot-Marie-Tooth disease | MONDO:0015626 | UMLS ID:C0007959 +BMGC_DS00442,BMG_DS000574,OMIM ID:214500 | Chediak-Higashi syndrome | MeSH ID:D002609 | DOID:2935 | UMLS ID:C0007965 | Chediak-Higashi Syndrome | MONDO:0008963 +BMGC_DS00443,BMG_DS000576,Mucocele - mouth | UMLS ID:C0007971 | (Oral soft tissue diseases NOS) or (canker) or (cheilitis) or (mucocele of mouth) | SNOMEDCT ID:266495008 | SNOMEDCT ID:155664000 | SNOMEDCT ID:7847004 | Oral soft tissue disease NOS | (Oral soft tissue diseases NOS) or (canker) or (cheilitis) or (mucocele of mouth) (disorder) | cheilitis | MONDO:0002102 | DOID:1762 | OMIM ID:MTHU068425 | Cheilitis | Canker | Mucocele of mouth | Cheilitis (disorder) | MeSH ID:D002613 | Oral soft tissue diseases NOS | SNOMEDCT ID:196557006 +BMGC_DS00444,BMG_DS000577,SNOMEDCT ID:76098004 | OMIM ID:MTHU073148 | Familial multilocular cystic disease of the jaws | Fibrous dysplasia of jaw | UMLS ID:C0008029 | MeSH ID:D002636 | OMIM ID:118400 | SNOMEDCT ID:53432004 | Familial fibrous dysplasia of jaw | Cherubism (disorder) | MONDO:0007315 | DOID:1856 | ICD10 ID:M27.8 | Cherubism | Fibrous dysplasia of jaw (disorder) | cherubism +BMGC_DS00445,BMG_DS000578,hyperprolactinemia | postpartum amenorrhea-galactorrhea syndrome | Chiari-Frommel Syndrome | MeSH ID:D002640 | MONDO:0043226 | DOID:12700 | UMLS ID:C0008043 +BMGC_DS00446,BMG_DS000579,UMLS ID:C0008049 | Varicella infection | SNOMEDCT ID:186508005 | Varicella infection (& [chickenpox]) | MONDO:0005700 | DOID:8659 | Varicella infection (& [chickenpox]) (disorder) | SNOMEDCT ID:38907003 | Chicken pox | Chickenpox | chickenpox | MeSH ID:D002644 | Varicella | Chickenpox - varicella | Varicella (disorder) +BMGC_DS00447,BMG_DS000580,UMLS ID:C0008055 | MeSH ID:D065632 | Chikungunya Fever | MONDO:0017941 | chikungunya +BMGC_DS00448,BMG_DS000581,Child Nutrition Disorders | UMLS ID:C0008087 | MeSH ID:D015362 +BMGC_DS00449,BMG_DS000582,MONDO:0009280 | OMIM ID:231630 | monosodium glutamate sensitivity | UMLS ID:C0008127 | MeSH ID:C562377 | Glutamate Monosodium Sensitivity +BMGC_DS00450,BMG_DS000583,chlamydia trachomatis infectious disease | MeSH ID:D002690 | UMLS ID:C0008149 | MONDO:0005701 | Chlamydia Infections +BMGC_DS00451,BMG_DS000585,Chlorotic anemia | SNOMEDCT ID:87522002 | Asiderotic anemia | Iron deficiency anemia (disorder) | Iron deficiency anemia syndrome | UMLS ID:C0008272 | Sideropenic anemia | Asiderotic anaemia | Chlorotic anaemia | IDA - Iron deficiency anaemia | SNOMEDCT ID:191125001 | Deficiency anemias | Iron deficiency anaemia syndrome | IDA - Iron deficiency anemia | Deficiency anaemias | Iron deficiency anaemia | Sideropenic anaemia | Deficiency anemiasm (& [asiderotic] or [sideropenic]) | Iron deficiency anemia | Deficiency anaemiasm (& [asiderotic] or [sideropenic]) | Deficiency anaemiasm (& [asiderotic] or [sideropenic]) (disorder) +BMGC_DS00452,BMG_DS000586,DOID:9574 | choanal atresia | MONDO:0012155 | OMIM ID:608911 | UMLS ID:C0008297 +BMGC_DS00453,BMG_DS000588,bile duct adenoma | DOID:5381 | MONDO:0006108 | UMLS ID:C0008309 +BMGC_DS00454,BMG_DS000589,UMLS ID:C0008311 | Cholangitis | Cholangitis (disorder) | MeSH ID:D002761 | OMIM ID:MTHU036659 | SNOMEDCT ID:82403002 | ICD10 ID:K83.0 | MONDO:0004789 | SNOMEDCT ID:155831003 | DOID:9446 | cholangitis | ICD11 ID:DC13 +BMGC_DS00455,BMG_DS000590,"UMLS ID:C0008312 | Primary Biliary Cholangitis | MONDO:0005388 | MeSH ID:D008105 | Liver Cirrhosis, Biliary | primary biliary cholangitis | DOID:12236" +BMGC_DS00456,BMG_DS000591,"Cholangitis, Sclerosing | MONDO:0018646 | DOID:14268 | UMLS ID:C0008313 | MeSH ID:D015209 | sclerosing cholangitis" +BMGC_DS00457,BMG_DS000592,UMLS ID:C0008325 | Cholecystitis | MeSH ID:D002764 | SNOMEDCT ID:76581006 | ICD10 ID:K81 | Inflamed gallbladder | cholecystitis | MONDO:0002155 | OMIM ID:MTHU009746 | Cholecystitis (disorder) | DOID:1949 +BMGC_DS00458,BMG_DS000593,DOID:899 | OMIM ID:603003 | bile duct cyst | MONDO:0018805 | choledochal cyst | UMLS ID:C0008340 +BMGC_DS00459,BMG_DS000594,Calculus - gall bladder | Cholelithiasis | SNOMEDCT ID:266541001 | Gall stones (& [calculus - gall bladder]) | UMLS ID:C0008350 | cholelithiasis | OMIM ID:MTHU009745 | Bile duct calculus | SNOMEDCT ID:44900007 | SNOMEDCT ID:266474003 | Calculus in biliary tract (disorder) | MONDO:0012672 | Stone - biliary | Biliary calculus (disorder) | Gallstones | Cholelithiasis (& calculus: [bile duct] or [cystic duct] or [gallbladder]) | Calculus in biliary tract | Cystic duct calculus | CL - Cholelithiasis | ICD10 ID:K80 | SNOMEDCT ID:197376000 | Biliary calculus | MeSH ID:D002769 | OMIM ID:611465 | Stones - gall | Calculus - biliary | Gallbladder calculus | SNOMEDCT ID:155823008 +BMGC_DS00460,BMG_DS000595,SNOMEDCT ID:63650001 | (Cholera) or (Vibrio cholerae) (disorder) | (Cholera) or (Vibrio cholerae) | Cholera | UMLS ID:C0008354 | cholera | SNOMEDCT ID:154269008 | MONDO:0015766 | MeSH ID:D002771 | DOID:1498 | ICD10 ID:A00 | Vibrio cholerae | SNOMEDCT ID:186087007 | Cholera (disorder) | Vibrio cholerae infection +BMGC_DS00461,BMG_DS000596,cholestasis | SNOMEDCT ID:33688009 | UMLS ID:C0008370 | DOID:13580 | OMIM ID:MTHU001311 | MeSH ID:D002779 | MONDO:0001751 | Cholestasis (finding) | Cholestasis | Bile stasis +BMGC_DS00462,BMG_DS000597,"Intrahepatic Cholestasis | Cholestasis, Intrahepatic | intrahepatic cholestasis | MeSH ID:D002780 | DOID:1852 | UMLS ID:C0008372 | MONDO:0019072" +BMGC_DS00463,BMG_DS000598,OMIM ID:MTHU063971 | (Cholesteatoma middle ear) or (middle ear polyp) | Cholesteatoma (morphologic abnormality) | Cholesteatoma | SNOMEDCT ID:155244001 | Polyp of middle ear | Epidermoid cholesteatoma | Cholesteatoma-polyp.-middle e. | SNOMEDCT ID:267766007 | Cholesteatoma pearl | cholesteatoma | Cholesteatoma (disorder) | DOID:869 | MONDO:0006530 | (Cholesteatoma middle ear) or (middle ear polyp) (disorder) | SNOMEDCT ID:363668000 | UMLS ID:C0008373 | MeSH ID:D002781 | Polyp - middle ear | SNOMEDCT ID:575006 +BMGC_DS00464,BMG_DS000599,DOID:10964 | cholesteatoma of middle ear | Cholesteatoma of middle ear and mastoid | Cholesteatoma of middle ear / mastoid | Cholesteatoma of middle ear and mastoid structure | Cholesteatoma of middle ear and mastoid structure (disorder) | SNOMEDCT ID:39911004 | UMLS ID:C0008374 | Cholesteatoma of middle ear and mastoid (disorder) | SNOMEDCT ID:194339007 +BMGC_DS00465,BMG_DS000600,cholesterol ester storage disease | UMLS ID:C0008384 | MONDO:0019149 | DOID:14502 | MeSH ID:D015217 | Cholesterol Ester Storage Disease | cholesteryl ester storage disease | OMIM ID:278000 +BMGC_DS00466,BMG_DS000601,MONDO:0004575 | Choline Deficiency | MeSH ID:D002796 | DOID:8456 | UMLS ID:C0008412 | choline deficiency disease +BMGC_DS00467,BMG_DS000602,UMLS ID:C0008441 | MONDO:0004997 | DOID:2649 | chondroblastoma +BMGC_DS00468,BMG_DS000603,Chondrodysplasia Punctata | MONDO:0019701 | DOID:2581 | MeSH ID:D002806 | chondrodysplasia punctata | UMLS ID:C0008445 +BMGC_DS00469,BMG_DS000604,Congenital anomaly of cartilage (disorder) | osteochondrodysplasia | Abnormal development of cartilage | cartilage development disorder | MONDO:0020779 | DOID:2256 | UMLS ID:C0008449 | SNOMEDCT ID:67988000 | Congenital anomaly of cartilage | Chondrodystrophy +BMGC_DS00470,BMG_DS000605,UMLS ID:C0008475 | MeSH ID:D046789 | OMIM ID:168900 | Chondromalacia Patellae | MONDO:0008207 | chondromalacia patellae | DOID:13357 +BMGC_DS00471,BMG_DS000607,MONDO:0008977 | UMLS ID:C0008479 | OMIM ID:215300 | DOID:3371 | chondrosarcoma +BMGC_DS00472,BMG_DS000608,chordoma | DOID:3302 | MONDO:0008978 | OMIM ID:215400 | UMLS ID:C0008487 +BMGC_DS00473,BMG_DS000609,OMIM ID:MTHU003622 | Chorea | choreatic disease | SNOMEDCT ID:271700006 | MONDO:0001595 | UMLS ID:C0008489 | SNOMEDCT ID:5027007 | Choreiform disorder | Choreiform movement | Chorea (disorder) | MeSH ID:D002819 | Choreic movement +BMGC_DS00474,BMG_DS000611,chorioamnionitis | MONDO:0000409 | Membranitis | SNOMEDCT ID:199675000 | SNOMEDCT ID:267263003 | UMLS ID:C0008495 | Amniotic cavity infection | Placentitis | Amniotic cavity infection (& [membranitis] or [placentitis]) (disorder) | Amniotic cavity infection (& [membranitis] or [placentitis]) | Amnionitis | MeSH ID:D002821 | DOID:0050697 | Chorioamnionitis | SNOMEDCT ID:11612004 | Chorioamnionitis (disorder) | ICD10 ID:O41.12 +BMGC_DS00475,BMG_DS000612,DOID:3594 | choriocarcinoma | MONDO:0005207 | UMLS ID:C0008497 +BMGC_DS00476,BMG_DS000613,DOID:11086 | chorioretinal scar | UMLS ID:C0008512 +BMGC_DS00477,BMG_DS000614,OMIM ID:MTHU058287 | Retinochoroiditis | UMLS ID:C0008513 | Chorioretinitis (& photoretinitis) (disorder) | Photoretinitis | MeSH ID:D002825 | Chorioretinitis (& photoretinitis) | Chorioretinal inflammation | Choroiditis and retinitis | Chorioretinitis (disorder) | chorioretinitis | SNOMEDCT ID:46627006 | Chorioretinitis | SNOMEDCT ID:270531006 | DOID:8886 | MONDO:0004674 +BMGC_DS00478,BMG_DS000615,UMLS ID:C0008521 | DOID:1417 | choroid disease | Choroid Diseases | MeSH ID:D015862 +BMGC_DS00479,BMG_DS000616,choroid cancer | MONDO:0021258 | UMLS ID:C0008523 | choroid neoplasm | DOID:12759 +BMGC_DS00480,BMG_DS000617,MeSH ID:D015794 | Choroideraemia | DOID:9821 | SNOMEDCT ID:75241009 | choroideremia | Tapetochoroidal dystrophy | UMLS ID:C0008525 | Choroideremia (disorder) | MONDO:0010557 | OMIM ID:303100 | ICD10 ID:H31.21 | Choroideremia +BMGC_DS00481,BMG_DS000618,MeSH ID:D002833 | DOID:11406 | UMLS ID:C0008526 | SNOMEDCT ID:16553002 | Choroiditis (disorder) | OMIM ID:MTHU069070 | Choroiditis | MONDO:0001280 | choroiditis +BMGC_DS00482,BMG_DS000619,DOID:12259 | Hereditary factor IX deficiency disease (disorder) | Haemophilia B | Sex-linked factor IX deficiency disease | Congenital factor IX deficiency | SNOMEDCT ID:41788008 | Hereditary factor IX deficiency disease | MONDO:0010604 | PTC deficiency disease | UMLS ID:C0008533 | MeSH ID:D002836 | ICD10 ID:D67 | Hemophilia B | Christmas disease | hemophilia B | OMIM ID:306900 +BMGC_DS00483,BMG_DS000620,SNOMEDCT ID:7255004 | MeSH ID:D002862 | UMLS ID:C0008582 | Chromomycosis | Chromoblastomycosis | chromomycosis | Chromoblastomycosis (disorder) | MONDO:0015908 | DOID:1562 | chromoblastomycosis | Chromomycosis (disorder) | SNOMEDCT ID:187079000 +BMGC_DS00484,BMG_DS000622,Congenital disorder due to abnormality of chromosome number OR structure | Chromosomal imbalance syndrome | MONDO:0019040 | chromosomal disorder | Anomaly of chromosome | SNOMEDCT ID:74345006 | UMLS ID:C0008626 | Congenital chromosomal disease | Chromosomopathy | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Chromosomal hereditary disorder | Chromosomal abnormality syndrome +BMGC_DS00485,BMG_DS000623,"Bronchitis, Chronic | bronchitis | chronic bronchitis | DOID:6132 | MONDO:0005607 | UMLS ID:C0008677 | MeSH ID:D029481" +BMGC_DS00486,BMG_DS000625,Cryptogenic pulmonary eosinophilia (disorder) | Chronic eosinophilic pneumonitis | Chronic pulmonary eosinophilia | Cryptogenic eosinophilic pneumonitis | chronic eosinophilic pneumonia | MONDO:0004806 | SNOMEDCT ID:233692000 | Idiopathic pulmonary eosinophilia | UMLS ID:C0008680 | DOID:9502 | Cryptogenic pulmonary eosinophilia +BMGC_DS00487,BMG_DS000626,"Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] | DOID:9312 | Chronic pansinusitis | SNOMEDCT ID:266384001 | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] (disorder) | UMLS ID:C0008681 | Ethmoidal sinusitis - chronic | ICD11 ID:XA58F6 | Other specified chronic rhinosinusitis | Sphenoidal sinus-chr. | Ethmoid sinus | Pansinusitis, chronic | Chronic sphenoidal sinusitis | ICD11 ID:CA0A.Y | ICD10 ID:J32.2 | SNOMEDCT ID:73237007 | SNOMEDCT ID:155528009 | chronic ethmoiditis | Chronic ethmoidal sinusitis | Chronic sinusitis NOS | MONDO:0004757 | Chronic ethmoiditis | chronic ethmoidal sinusitis | Chronic ethmoidal sinusitis (disorder)" +BMGC_DS00488,BMG_DS000627,Frontal sinus | Frontal sinusitis (& chronic) | DOID:10790 | Frontal sinusitis | ICD10 ID:J32.1 | Frontal sinusitis (& chronic) (disorder) | Other specified chronic rhinosinusitis | SNOMEDCT ID:155527004 | ICD11 ID:CA0A.Y | ICD11 ID:XA91G8 | chronic frontal sinusitis | MONDO:0001120 | SNOMEDCT ID:60130002 | SNOMEDCT ID:195786002 | Chronic frontal sinusitis (disorder) | UMLS ID:C0008683 | Chronic frontal sinusitis +BMGC_DS00489,BMG_DS000628,"Diseases or disorders of orofacial complex, unspecified | SNOMEDCT ID:155644005 | Gingivitis (& [chronic]) | SNOMEDCT ID:196355002 | ICD10 ID:K05.1 | (Chronic gingivitis) or (gingivostomatitis) | DOID:3087 | Gingivitis (& [chronic]) (disorder) | (Chronic gingivitis) or (gingivostomatitis) (disorder) | gingivitis | Gingivitis | chronic gingivitis | SNOMEDCT ID:72621003 | SNOMEDCT ID:266490003 | Chronic gingivitis (disorder) | ICD11 ID:DA0Z | MONDO:0020782 | UMLS ID:C0008684 | Chronic gingivitis | Gingivostomatitis" +BMGC_DS00490,BMG_DS000630,(Maxillary sinusitis) or (chronic antritis) | UMLS ID:C0008698 | Maxillary sinusitis | ICD10 ID:J32.0 | Other specified chronic rhinosinusitis | Antritis - chronic | chronic maxillary sinusitis | ICD11 ID:CA0A.Y | Chronic maxillary sinusitis (disorder) | (Maxillary sinusitis) or (chronic antritis) (disorder) | DOID:10792 | SNOMEDCT ID:155526008 | ICD11 ID:XA1R64 | MONDO:0001122 | SNOMEDCT ID:35923002 | SNOMEDCT ID:195785003 | Chronic antritis | Maxillary sinus | Chronic maxillary sinusitis +BMGC_DS00491,BMG_DS000631,MONDO:0001074 | UMLS ID:C0008701 | DOID:10600 | chronic tic disorder +BMGC_DS00492,BMG_DS000632,Sequestrum of bone | (Osteomyelitis: [chronic] or [Garre's sclerosing]) or (Brodie's abscess) or (sequestrum of bone) (disorder) | osteomyelitis | SNOMEDCT ID:203181001 | Chronic osteomyelitis | (Osteomyelitis: [chronic] or [Garre's sclerosing]) or (Brodie's abscess) or (sequestrum of bone) | UMLS ID:C0008707 | SNOMEDCT ID:156791003 | SNOMEDCT ID:40970001 | Garre's sclerosing osteomyelitis | Brodie's abscess | DOID:1019 | Chronic osteomyelitis (disorder) +BMGC_DS00493,BMG_DS000633,Chronic rhinitis | Rhinitis - chronic | Catarrh unspecified | (Chronic rhinitis) or (catarrh unspecified) | MONDO:0004514 | SNOMEDCT ID:270532004 | DOID:8252 | Ozena | ICD11 ID:CA09.0 | SNOMEDCT ID:86094006 | chronic rhinitis | ICD10 ID:J31.0 | UMLS ID:C0008711 | (Chronic rhinitis) or (catarrh unspecified) (disorder) | OMIM ID:MTHU039707 | SNOMEDCT ID:155522005 | SNOMEDCT ID:195764003 | Ozaena | Chronic rhinitis (& ozaena) | Chronic rhinitis (& ozaena) (disorder) | Chronic rhinitis (disorder) +BMGC_DS00494,BMG_DS000634,"Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] | MONDO:0001123 | Chronic sphenoidal sinusitis (disorder) | Chronic pansinusitis | SNOMEDCT ID:266384001 | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] (disorder) | Ethmoidal sinusitis - chronic | SNOMEDCT ID:38961000 | ICD11 ID:XA4U67 | chronic sphenoidal sinusitis | Other specified chronic rhinosinusitis | Sphenoidal sinus-chr. | DOID:10793 | ICD10 ID:J32.3 | Pansinusitis, chronic | Chronic sphenoidal sinusitis | ICD11 ID:CA0A.Y | SNOMEDCT ID:155528009 | Chronic ethmoidal sinusitis | Chronic sinusitis NOS | Sphenoid sinus | UMLS ID:C0008712" +BMGC_DS00495,BMG_DS000635,UMLS ID:C0008715 | Chronic Disease | MeSH ID:D002908 | Chronically Ill +BMGC_DS00496,BMG_DS000636,Eosinophilic granulomatosis with polyangiitis | MONDO:0015943 | Allergic granulomatosis angiitis | UMLS ID:C0008728 | Churg Strauss syndrome | DOID:3049 | eosinophilic granulomatosis with polyangiitis | Allergic granulomatosis angiitis (disorder) | EGPA - eosinophilic granulomatosis with polyangiitis | SNOMEDCT ID:82275008 | Churg-Strauss syndrome | Allergic granulomatous angiitis | CSS - Churg-Strauss syndrome +BMGC_DS00497,BMG_DS000637,Chylous Ascites | chylous ascites | UMLS ID:C0008732 | MeSH ID:D002915 | OMIM ID:208300 | MONDO:0008829 +BMGC_DS00498,BMG_DS000638,SNOMEDCT ID:196093002 | UMLS ID:C0008733 | MeSH ID:D002916 | OMIM ID:MTHU009832 | SNOMEDCT ID:83035003 | Chylothorax | Chylothorax (disorder) +BMGC_DS00499,BMG_DS000639,primary ciliary dyskinesia | MONDO:0016575 | Ciliary Motility Disorders | MeSH ID:D002925 | DOID:9562 | UMLS ID:C0008780 +BMGC_DS00500,BMG_DS000640,Cirrhosis of liver | SNOMEDCT ID:19943007 | UMLS ID:C0008827 | CL - Cirrhosis of liver | Cirrhosis of liver without mention of alcohol | Cirrhosis of liver (disorder) | Hepatic cirrhosis +BMGC_DS00501,BMG_DS000641,DOID:9296 | cleft lip | MONDO:0016043 | isolated cleft lip | UMLS ID:C0008924 +BMGC_DS00502,BMG_DS000642,cleft palate | DOID:674 | UMLS ID:C0008925 +BMGC_DS00503,BMG_DS000643,MONDO:0007340 | OMIM ID:119600 | cleidocranial dysplasia | Cleidocranial Dysplasia | UMLS ID:C0008928 | MeSH ID:D002973 | cleidocranial dysplasia 1 | DOID:13994 +BMGC_DS00504,BMG_DS000644,Clonorchiasis | Chinese liver fluke disease | DOID:13767 | UMLS ID:C0009021 | Clonorchiasis (disorder) | clonorchiasis | MeSH ID:D003003 | Hepatic distomiasis due to Clonorchis sinensis | ICD11 ID:1F80 | MONDO:0005705 | SNOMEDCT ID:11938002 | Clonorchiosis | Oriental liver fluke disease | ICD10 ID:B66.1 +BMGC_DS00505,BMG_DS000646,DOID:11836 | MONDO:0007342 | clubfoot | OMIM ID:119800 | UMLS ID:C0009081 +BMGC_DS00506,BMG_DS000647,cluster headache syndrome | Cluster Headache | MONDO:0043537 | MeSH ID:D003027 | UMLS ID:C0009088 +BMGC_DS00507,BMG_DS000648,UMLS ID:C0009171 | cocaine abuse | DOID:809 | MONDO:0004456 +BMGC_DS00508,BMG_DS000649,Other mycoses | Mycoses - other | UMLS ID:C0009186 | SNOMEDCT ID:154408001 | ICD10 ID:B38 | Coccidioidomycosis infection | SNOMEDCT ID:266218008 | Aspergillosis | Coccidioidomycosis | SNOMEDCT ID:187025009 | Histoplasmosis | coccidioidomycosis | SNOMEDCT ID:60826002 | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Piedra | Sporotrichosis | MONDO:0005706 | Coccidioidomycosis (disorder) | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | DOID:13450 | Posadas-Wernicke disease | MeSH ID:D003047 +BMGC_DS00509,BMG_DS000650,MONDO:0005707 | Coccidiosis (& [intestinal]) (disorder) | SNOMEDCT ID:62005008 | coccidiosis | DOID:2113 | UMLS ID:C0009187 | Coccidiosis (& [intestinal]) | Coccidiosis (disorder) | Coccidiosis | Coccidiosis infection | MeSH ID:D003048 | SNOMEDCT ID:186125004 +BMGC_DS00510,BMG_DS000652,DOID:5463 | cochlear disease | Cochlear Diseases | cochlear disorder | UMLS ID:C0009197 | MeSH ID:D015834 | MONDO:0003452 +BMGC_DS00511,BMG_DS000653,UMLS ID:C0009207 | MONDO:0016006 | Cockayne syndrome | MeSH ID:D003057 | DOID:2962 | Cockayne Syndrome +BMGC_DS00512,BMG_DS000657,pulmonary coin lesion | UMLS ID:C0009250 | Coin lesion of lung (finding) | Coin lesion of lung | DOID:5364 | MONDO:0006931 | SNOMEDCT ID:308689002 +BMGC_DS00513,BMG_DS000658,Cold Panniculitis | Panniculitis | UMLS ID:C0009270 | MeSH ID:D015434 +BMGC_DS00514,BMG_DS000659,Colitis (disorder) | Colitis | UMLS ID:C0009319 | MONDO:0005292 | SNOMEDCT ID:64226004 | Colon inflammation | MeSH ID:D003092 | OMIM ID:MTHU036324 | DOID:0060180 | colitis +BMGC_DS00515,BMG_DS000660,"ulcerative colitis | DOID:8577 | MeSH ID:D003093 | Colitis, Ulcerative | UMLS ID:C0009324 | Ulcerative Colitis | MONDO:0005101" +BMGC_DS00516,BMG_DS000661,Collagen Diseases | MeSH ID:D003095 | rheumatic disorder | UMLS ID:C0009326 | MONDO:0005554;MONDO:0021103 | DOID:854 | collagen disease | obsolete collagen diseases +BMGC_DS00517,BMG_DS000662,UMLS ID:C0009363 | coloboma | MONDO:0001476 | DOID:12270 +BMGC_DS00518,BMG_DS000663,MONDO:0003409 | UMLS ID:C0009373 | DOID:5353 | colonic disease | colonic disorder | MeSH ID:D003108 | Colonic Diseases +BMGC_DS00519,BMG_DS000664,"MONDO:0002802 | functional colonic disease | Colonic Diseases, Functional | UMLS ID:C0009374 | DOID:3877 | MeSH ID:D003109" +BMGC_DS00520,BMG_DS000665,UMLS ID:C0009375 | colonic neoplasm | colonic benign neoplasm | DOID:235 | MONDO:0005401 +BMGC_DS00521,BMG_DS000666,MONDO:0021400 | UMLS ID:C0009376 | polyp of colon +BMGC_DS00522,BMG_DS000667,Colonic Pseudo-Obstruction | MeSH ID:D003112 | DOID:3876 | colonic pseudo-obstruction | MONDO:0002801 | UMLS ID:C0009377 +BMGC_DS00523,BMG_DS000668,DOID:4885 | UMLS ID:C0009400 | Colorado Tick Fever | Colorado tick fever | MONDO:0005708 | MeSH ID:D003121 +BMGC_DS00524,BMG_DS000669,DOID:0080199 | MONDO:0024331 | colorectal carcinoma | UMLS ID:C0009402 +BMGC_DS00525,BMG_DS000670,colorectal neoplasm | colorectal cancer | UMLS ID:C0009404 | MONDO:0005335 | DOID:9256 +BMGC_DS00526,BMG_DS000671,Lynch syndrome | DOID:3883 | UMLS ID:C0009405 +BMGC_DS00527,BMG_DS000672,UMLS ID:C0009421 | Comatose | SNOMEDCT ID:371632003 | MeSH ID:D003128 | Exanimation | Coma | Coma (disorder) | SNOMEDCT ID:50061006 | Coma (finding) +BMGC_DS00528,BMG_DS000673,DOID:6950 | UMLS ID:C0009426 | MONDO:0004049 | combat disorder +BMGC_DS00529,BMG_DS000674,MONDO:0002886 | UMLS ID:C0009440 | common bile duct disease | Common Bile Duct Diseases | MeSH ID:D003137 | common bile duct disorder | DOID:4137 +BMGC_DS00530,BMG_DS000675,UMLS ID:C0009442 | DOID:4608 | common bile duct neoplasm | MONDO:0006709 +BMGC_DS00531,BMG_DS000676,common cold | Common Cold | MeSH ID:D003139 | DOID:10459 | UMLS ID:C0009443 | MONDO:0005709 +BMGC_DS00532,BMG_DS000677,common variable immunodeficiency | MeSH ID:D017074 | UMLS ID:C0009447 | MONDO:0015517 | DOID:12177 | Common Variable Immunodeficiency +BMGC_DS00533,BMG_DS000678,UMLS ID:C0009450 | MONDO:0005550 | Communicable Diseases | infectious disease | MeSH ID:D003141 +BMGC_DS00534,BMG_DS000679,DOID:1573 | UMLS ID:C0009451 | MeSH ID:D006849 | Hydrocephalus | communicating hydrocephalus | Communicating Hydrocephalus | MONDO:0002045 +BMGC_DS00535,BMG_DS000680,DOID:2033 | UMLS ID:C0009460 | communication disorder | MONDO:0002182 +BMGC_DS00536,BMG_DS000681,compartment syndrome | UMLS ID:C0009492 | DOID:682 | MONDO:0004001 +BMGC_DS00537,BMG_DS000682,UMLS ID:C0009592 | brain compression | ICD11 ID:KB07 | DOID:11457 | SNOMEDCT ID:46963008 | Compression of brain | ICD10 ID:G93.5 | Compression of brain (disorder) | MONDO:0001291 | Compression of brain in neonate +BMGC_DS00538,BMG_DS000683,DOID:10932 | obsessive-compulsive personality disorder | MONDO:0001158 | UMLS ID:C0009595 +BMGC_DS00539,BMG_DS000684,UMLS ID:C0009663 | Condylomata Acuminata | anogenital venereal wart | MeSH ID:D003218 | DOID:11168 +BMGC_DS00540,BMG_DS000685,congenital macroglossia | UMLS ID:C0009677 | MONDO:0007927 | OMIM ID:153630 +BMGC_DS00541,BMG_DS000688,"Hepatic Fibrosis, Congenital | UMLS ID:C0009714 | MeSH ID:C562378 | isolated congenital hepatic fibrosis | MONDO:0018840" +BMGC_DS00542,BMG_DS000689,UMLS ID:C0009759 | MONDO:0006170 | conjunctival disorder | MeSH ID:D003229 | conjunctival disease | Conjunctival Diseases | DOID:4251 +BMGC_DS00543,BMG_DS000690,MONDO:0020204 | DOID:5467 | UMLS ID:C0009761 | conjunctival tumor | conjunctival cancer +BMGC_DS00544,BMG_DS000691,SNOMEDCT ID:193858003 | Conjunctivitis (disorder) | SNOMEDCT ID:9826008 | SNOMEDCT ID:193857008 | UMLS ID:C0009763 | Conjunctivitis | conjunctivitis | OMIM ID:MTHU036374 | Conjunctivitis &/or unspecified acute conjunctivitis (disorder) | Inflammation of conjunctiva | ICD10 ID:H10 | Acute conjunctivitis | Eye infection | Conjunctivitis &/or unspecified acute conjunctivitis | Unspecified acute conjunctivitis | Eye infection &/or conjunctivitis (& [acute]) | MONDO:0003799 | MeSH ID:D003231 | Eye infection &/or conjunctivitis (& [acute]) (disorder) | DOID:6195 | Pink eye disease +BMGC_DS00545,BMG_DS000692,"acute hemorrhagic conjunctivitis | MeSH ID:D003232 | Conjunctivitis, Acute Hemorrhagic | MONDO:0005634 | UMLS ID:C0009765 | DOID:11227" +BMGC_DS00546,BMG_DS000693,"atopic conjunctivitis | Allergic Conjunctivitis | MeSH ID:D003233 | Conjunctivitis, Allergic | allergic conjunctivitis | MONDO:0005642 | DOID:11204 | UMLS ID:C0009766" +BMGC_DS00547,BMG_DS000694,bacterial conjunctivitis | SNOMEDCT ID:193877001 | DOID:9700 | MONDO:0006668 | SNOMEDCT ID:128350005 | SNOMEDCT ID:17482009 | Mucopurulent conjunctivitis | Bacterial conjunctivitis (disorder) | Mucopurulent conjunctivitis (disorder) | UMLS ID:C0009768 | Bacterial conjunctivitis +BMGC_DS00548,BMG_DS000695,"giant papillary conjunctivitis | UMLS ID:C0009769 | MeSH ID:D003233 | Conjunctivitis, Allergic | MONDO:0002308 | Conjunctivitis, Giant Papillary | DOID:2457" +BMGC_DS00549,BMG_DS000696,Paratrachoma | SNOMEDCT ID:111840005 | Inclusion conjunctivitis (disorder) | DOID:13800 | inclusion conjunctivitis | (Conjunctivitis: [inclusion] or [swimming pool]) or (paratrachoma) (disorder) | MONDO:0005808 | SNOMEDCT ID:186674002 | UMLS ID:C0009770 | Inclusion conjunctivitis | Swimming pool conjunctivitis | SNOMEDCT ID:266109000 | (Conjunctivitis: [inclusion] or [swimming pool]) or (paratrachoma) +BMGC_DS00550,BMG_DS000697,"UMLS ID:C0009773 | DOID:2474 | MeSH ID:D003233 | MONDO:0002313 | Conjunctivitis, Allergic | Conjunctivitis, Vernal | vernal conjunctivitis" +BMGC_DS00551,BMG_DS000699,DOID:65 | Connective Tissue Diseases | MeSH ID:D003240 | connective tissue disease | UMLS ID:C0009782 | connective tissue disorder | MONDO:0003900 +BMGC_DS00552,BMG_DS000700,MONDO:0002203 | UMLS ID:C0009806 | constipation disorder +BMGC_DS00553,BMG_DS000701,UMLS ID:C0009946 | DOID:1768 | conversion disorder | MONDO:0002104 +BMGC_DS00554,BMG_DS000702,"UMLS ID:C0009952 | Febrile Convulsions | Seizures, Febrile | MeSH ID:D003294" +BMGC_DS00555,BMG_DS000704,UMLS ID:C0010034 | corneal disease | MONDO:0000942 | corneal disorder | MeSH ID:D003316 | DOID:10124 | Corneal Diseases +BMGC_DS00556,BMG_DS000705,UMLS ID:C0010035 | Hereditary corneal dystrophy | DOID:2566 | corneal dystrophy | SNOMEDCT ID:77797009 | Hereditary corneal dystrophy (disorder) +BMGC_DS00557,BMG_DS000706,UMLS ID:C0010036 | MONDO:0018102 | OMIM ID:MTHU015719 | Corneal dystrophy (disorder) | DOID:2566 | corneal dystrophy | Corneal dystrophy | SNOMEDCT ID:5587004 +BMGC_DS00558,BMG_DS000707,UMLS ID:C0010037 | DOID:11030 | MONDO:0006712 | corneal edema +BMGC_DS00559,BMG_DS000708,DOID:8463 | MeSH ID:D003320 | Corneal Ulcer | corneal ulcer | MONDO:0004577 | UMLS ID:C0010043 +BMGC_DS00560,BMG_DS000709,MeSH ID:D003323 | coronary aneurysm | Coronary Aneurysm | MONDO:0006714 | DOID:3362 | UMLS ID:C0010051 +BMGC_DS00561,BMG_DS000710,Coronary Arteriosclerosis | UMLS ID:C0010054 | MeSH ID:D003324 | coronary artery disease | MONDO:0021661 | coronary atherosclerosis | DOID:3393 | Coronary Artery Disease +BMGC_DS00562,BMG_DS000711,Coronary arteriosclerosis (disorder) | UMLS ID:C0010068 | IHD - Ischaemic heart disease | CHD - Coronary heart disease | Coronary arteriosclerosis | SNOMEDCT ID:41702007 | Coronary atherosclerosis (disorder) | Cardiac ischemia | CAD - Coronary artery disease | Cardiac ischaemia | Coronary heart disease | Myocardial ischaemia | Coronary artery disease | Ischemic heart disease | IHD - Ischemic heart disease | Atherosclerotic heart disease | Coronary sclerosis | Coronary atheroma | Arteriosclerotic heart disease | Coronary atherosclerosis | DOID:3393 | SNOMEDCT ID:53741008 | Ischaemic heart disease | ASHD | Myocardial ischemia | coronary artery disease +BMGC_DS00563,BMG_DS000712,MeSH ID:D003328 | UMLS ID:C0010072 | DOID:11847 | MONDO:0006716 | Coronary Thrombosis | coronary thrombosis +BMGC_DS00564,BMG_DS000713,MONDO:0005356 | UMLS ID:C0010073 | DOID:11840 | coronary vasospasm | MeSH ID:D003329 | Coronary Vasospasm | Coronary Artery Vasospasm | coronary artery vasospasm +BMGC_DS00565,BMG_DS000715,UMLS ID:C0010093 | MeSH ID:D010048 | MONDO:0001625 | Corpus Luteum Cyst | corpus luteum cyst | Ovarian Cysts +BMGC_DS00566,BMG_DS000718,Pseudocowpox | SNOMEDCT ID:266193008 | Orf | Milkers' node | cowpox | ICD10 ID:B08.010 | Variola major | Smallpox | SNOMEDCT ID:70090004 | SNOMEDCT ID:154344005 | Milker's node | Roseola infantum | Other viral exanthemata | Cowpox | MeSH ID:D015605 | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder) | Fifth disease | MONDO:0005720 | (Viral exanthemata [& variants]) or (orf) or (milkers node) | Parascarlatina | UMLS ID:C0010232 | Cowpox (disorder) | Fourth disease | DOID:8956 +BMGC_DS00567,BMG_DS000719,UMLS ID:C0010246 | coxsackievirus infectious disease | MeSH ID:D003384 | Coxsackievirus Infections | MONDO:0005721 +BMGC_DS00568,BMG_DS000721,MONDO:0003569 | cranial nerve disease | UMLS ID:C0010266 | DOID:5656 | cranial nerve neuropathy +BMGC_DS00569,BMG_DS000722,MONDO:0002633 | UMLS ID:C0010267 | cranial nerve neoplasm | cranial nerve malignant neoplasm | DOID:2815 +BMGC_DS00570,BMG_DS000724,MONDO:0007405 | Crouzon syndrome | UMLS ID:C0010273 | OMIM ID:123500 | Craniofacial Dysostosis | DOID:2339 | MeSH ID:D003394 +BMGC_DS00571,BMG_DS000725,UMLS ID:C0010276 | DOID:3840 | MONDO:0018907 | craniopharyngioma +BMGC_DS00572,BMG_DS000726,"Craniosynostoses | Premature closure of cranial sutures | ICD11 ID:LB70.0Z | MONDO:0015469 | ICD10 ID:Q75.0 | Scaphocephaly | Craniosynostosis, unspecified | Congenital ossification of cranial sutures | craniosynostosis | SNOMEDCT ID:205414007 | Premature cranial suture closure | Craniostenosis | MeSH ID:D003398 | Craniostosis | UMLS ID:C0010278 | Craniosynostosis syndrome | SNOMEDCT ID:205411004 | (Craniosynostosis) or (scaphocephaly) | Craniosynostosis | (Craniosynostosis) or (scaphocephaly) (disorder) | DOID:2340 | CSO - Craniosynostosis | Craniosynostosis (disorder) | Congenital ossification of sutures of skull | Craniosynostosis syndrome (disorder) | SNOMEDCT ID:57219006" +BMGC_DS00573,BMG_DS000727,congenital hypothyroidism | MONDO:0018612 | DOID:0050328 | MeSH ID:D003409 | Congenital Hypothyroidism | UMLS ID:C0010308 +BMGC_DS00574,BMG_DS000728,MONDO:0007404 | Cri-du-chat syndrome | OMIM ID:123450 | Cri-du-Chat Syndrome | Cri-Du-Chat syndrome | UMLS ID:C0010314 | DOID:12580 | MeSH ID:D003410 +BMGC_DS00575,BMG_DS000729,DOID:3803 | UMLS ID:C0010324 | Crigler-Najjar syndrome type 1 | Crigler-Najjar syndrome | OMIM ID:218800 | MONDO:0021020 +BMGC_DS00576,BMG_DS000731,MeSH ID:D016638 | UMLS ID:C0010340 | Critical Illness +BMGC_DS00577,BMG_DS000732,MeSH ID:D003424 | Crohn disease | MONDO:0005011 | UMLS ID:C0010346 | Crohn Disease +BMGC_DS00578,BMG_DS000734,MeSH ID:D003440 | UMLS ID:C0010380 | croup | Croup | Croup syndrome | SNOMEDCT ID:71186008 | Croup (disorder) | MONDO:0005722 | DOID:9395 +BMGC_DS00579,BMG_DS000736,"Hypertension, Portal | UMLS ID:C0010398 | MeSH ID:D006975 | Cruveilhier-Baumgarten Syndrome" +BMGC_DS00580,BMG_DS000737,"UMLS ID:C0010403 | MONDO:0005576 | Cryoimmunoglobulinaemia | MeSH ID:D003449 | Cryoimmunoglobulinemia | Cryoglobulinaemia | ICD10 ID:D89.1 | cryoglobulinemia | Cryoglobulinemia | DOID:2917 | Diseases of the immune system, unspecified | SNOMEDCT ID:30911005 | Cryoglobulinemia (disorder) | ICD11 ID:4B4Z" +BMGC_DS00581,BMG_DS000738,European cryptococcosis | DOID:12053 | Infection by Cryptococcus neoformans | Cryptococcosis | Torulosis | European blastomycosis | Busse-Buschke's disease | MONDO:0005724 | Cryptococcosis (disorder) | Busse-Buschke disease | SNOMEDCT ID:42386007 | Torula | UMLS ID:C0010414 | cryptococcosis +BMGC_DS00582,BMG_DS000739,UMLS ID:C0010417 | DOID:11383 | OMIM ID:219050 | MONDO:0009047 | cryptorchidism +BMGC_DS00583,BMG_DS000740,SNOMEDCT ID:186126003 | MONDO:0015474 | MeSH ID:D003457 | Cryptosporidiosis (disorder) | Infection caused by Cryptosporidium | Infection by Cryptosporidium | SNOMEDCT ID:240370009 | Cryptosporidiosis | ICD11 ID:1A32 | cryptosporidiosis | Infection caused by Cryptosporidium (disorder) | SNOMEDCT ID:58777003 | DOID:1733 | UMLS ID:C0010418 | Cryptosporidiasis | ICD10 ID:A07.2 | Cryptosporidium infection +BMGC_DS00584,BMG_DS000741,UMLS ID:C0010474 | Curling Ulcer | duodenal ulcer | MeSH ID:D004381 | DOID:1724 | Duodenal Ulcer +BMGC_DS00585,BMG_DS000742,MeSH ID:D003480 | Cushing syndrome | DOID:446 | primary hyperaldosteronism | UMLS ID:C0010481 | Cushing Syndrome | MONDO:0018912 +BMGC_DS00586,BMG_DS000744,UMLS ID:C0010495 | MeSH ID:D003483 | cutis laxa | MONDO:0016175 | Cutis Laxa | DOID:3144 +BMGC_DS00587,BMG_DS000745,Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) | Cyclitis | SNOMEDCT ID:17657000 | SNOMEDCT ID:155116005 | UMLS ID:C0010543 | Iris disorders | Disorders of iris and ciliary body | Cyclitis (disorder) | Ciliary body disorders | SNOMEDCT ID:267719008 | Uveitis | Iris/ciliary body disorders | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) (disorder) +BMGC_DS00588,BMG_DS000746,UMLS ID:C0010598 | MONDO:0004572 | DOID:845 | cyclothymic disorder +BMGC_DS00589,BMG_DS000747,adenoid cystic carcinoma | UMLS ID:C0010606 | MONDO:0004971 | salivary gland adenoid cystic carcinoma | DOID:4866 +BMGC_DS00590,BMG_DS000748,MONDO:0005596 | UMLS ID:C0010631 | DOID:3111 | cystadenocarcinoma +BMGC_DS00591,BMG_DS000749,UMLS ID:C0010633 | DOID:2634 | MONDO:0002369 | cystadenoma +BMGC_DS00592,BMG_DS000754,DOID:1485 | cystic fibrosis | MONDO:0009061 | UMLS ID:C0010674 | Cystic Fibrosis | OMIM ID:219700 | MeSH ID:D003550 +BMGC_DS00593,BMG_DS000755,SNOMEDCT ID:59051007 | Cysticercosis | ICD10 ID:B69 | MONDO:0015484 | MeSH ID:D003551 | UMLS ID:C0010678 | Larval taeniasis | cysticercosis | Cysticerciasis | Larval teniasis | Cysticercosis (disorder) | DOID:10079 +BMGC_DS00594,BMG_DS000756,MeSH ID:D003555 | (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) | CSNU - Cystinuria | von Gierke 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) | Von Gierke's disease | cystinuria | Glucose-6-phosphate dehydrogenase deficiency | Cystinuria | Galactosemia | MONDO:0009067 | DOID:9266 | UMLS ID:C0010691 | Albinism | Other amino-acid/carbohydrate | SNOMEDCT ID:85020001 | Cystinuria (disorder) | Glycogen storage disease | Glucose-6-phosph.dehydr.defic. | Galactosaemia | ICD10 ID:E72.01 | SNOMEDCT ID:154738008 | (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) | OMIM ID:220100 | SNOMEDCT ID:267498002 +BMGC_DS00595,BMG_DS000757,ICD10 ID:N30 | DOID:1679 | Bladder infection | MeSH ID:D003556 | Cystitis (disorder) | UMLS ID:C0010692 | Cystitis | MONDO:0006032 | SNOMEDCT ID:38822007 | cystitis +BMGC_DS00596,BMG_DS000759,DOID:1631 | UMLS ID:C0010701 | benign breast phyllodes tumor | MONDO:0005078 | phyllodes tumor +BMGC_DS00597,BMG_DS000760,UMLS ID:C0010823 | cytomegalovirus infection | Cytomegalovirus Infections | MeSH ID:D003586 | MONDO:0005132 +BMGC_DS00598,BMG_DS000761,"MeSH ID:D003607 | OMIM ID:MTHU004835 | Dacryocystitis acute/chronic | DOID:9938 | SNOMEDCT ID:267738004 | dacryocystitis | SNOMEDCT ID:155183008 | Dacryocystitis | Dacryocystitis &/or acute/chronic | UMLS ID:C0010930 | SNOMEDCT ID:85777005 | Dacryocystitis (disorder) | Dacryocystitis &/or acute/chronic (disorder) | MONDO:0004926 | Dacryocystitis, acute/chronic" +BMGC_DS00599,BMG_DS000762,Dandy-Walker Syndrome | UMLS ID:C0010964 | MeSH ID:D003616 | OMIM ID:220200 | MONDO:0009072 | Dandy-Walker syndrome | DOID:2785 +BMGC_DS00600,BMG_DS000763,Prelingual Deafness | UMLS ID:C0011052 | MeSH ID:D003638 | Deafness +BMGC_DS00601,BMG_DS000767,Deficiency Diseases | MeSH ID:D003677 | UMLS ID:C0011156 | DOID:5113 | nutritional deficiency disease +BMGC_DS00602,BMG_DS000770,Deglutition Disorders | MeSH ID:D003680 | UMLS ID:C0011168 +BMGC_DS00603,BMG_DS000771,Dehydration (disorder) | MeSH ID:D003681 | Pure water depletion syndrome | UMLS ID:C0011175 | SNOMEDCT ID:34095006 | SNOMEDCT ID:154759001 | OMIM ID:MTHU000177 | ICD10 ID:E86.0 | Dehydration +BMGC_DS00604,BMG_DS000772,Hereditary Sensory and Motor Neuropathy | UMLS ID:C0011195 | Charcot-Marie-Tooth disease type 3 | MONDO:0007790 | MeSH ID:D015417 | OMIM ID:145900 | Dejerine-Sottas Disease +BMGC_DS00605,BMG_DS000773,delirium | UMLS ID:C0011206 | MONDO:0045057 +BMGC_DS00606,BMG_DS000774,DOID:2047 | UMLS ID:C0011226 | hepatitis D virus infection | MONDO:0005789 | hepatitis D +BMGC_DS00607,BMG_DS000775,DOID:778 | UMLS ID:C0011251 | delusional disorder | MONDO:0004359 +BMGC_DS00608,BMG_DS000776,Multi-infarct dementia | vascular dementia | MID - multi-infarct dementia | SNOMEDCT ID:56267009 | multi-infarct dementia | DOID:8725 | Arteriosclerotic dementia | Multi-infarct dementia (disorder) | Multi infarct dementia | MONDO:0043224 | UMLS ID:C0011263 +BMGC_DS00609,BMG_DS000777,"Dementia, Vascular | MeSH ID:D015140 | DOID:8725 | MONDO:0004648 | vascular dementia | UMLS ID:C0011269" +BMGC_DS00610,BMG_DS000779,MeSH ID:D003711 | DOID:3213 | MONDO:0002562 | demyelinating disease | Demyelinating Diseases | UMLS ID:C0011303 +BMGC_DS00611,BMG_DS000780,Dengue | Dengue Fever | dengue disease | MONDO:0005502 | UMLS ID:C0011311 | MeSH ID:D003715 | DOID:12205 +BMGC_DS00612,BMG_DS000781,ICD10 ID:K02 | Dental cavity | Carious lesion | Tooth decayed | dental caries | DOID:216 | Tooth caries | Dental decay | OMIM ID:MTHU004627 | SNOMEDCT ID:155632007 | Dental caries | MONDO:0005276 | Teeth decayed | Tooth decay | SNOMEDCT ID:80967001 | UMLS ID:C0011334 | Dental caries (disorder) +BMGC_DS00613,BMG_DS000783,UMLS ID:C0011351 | DOID:693 | MONDO:0004038 | dental enamel hypoplasia | Dental Enamel Hypoplasia | MeSH ID:D003744 +BMGC_DS00614,BMG_DS000784,MeSH ID:D003773 | Dental Plaque | UMLS ID:C0011389 +BMGC_DS00615,BMG_DS000786,Dental Pulp Calcification | DOID:5608 | MONDO:0003542 | MeSH ID:D003784 | UMLS ID:C0011401 | dental pulp calcification +BMGC_DS00616,BMG_DS000787,dental pulp disorder | DOID:5330 | Dental Pulp Diseases | dental pulp disease | MONDO:0003394 | UMLS ID:C0011405 | MeSH ID:D003788 +BMGC_DS00617,BMG_DS000789,Dental Pulp Necrosis | MeSH ID:D003790 | UMLS ID:C0011407 | MONDO:0001326 | DOID:11623 | dental pulp necrosis +BMGC_DS00618,BMG_DS000791,MeSH ID:D003805 | dentin dysplasia | UMLS ID:C0011430 | MONDO:0015613 | DOID:701 | Dentin Dysplasia +BMGC_DS00619,BMG_DS000792,DOID:698 | dentin sensitivity | MONDO:0004059 | Dentin Sensitivity | UMLS ID:C0011432 | MeSH ID:D003807 +BMGC_DS00620,BMG_DS000794,DOID:4154 | dentinogenesis imperfecta | UMLS ID:C0011436 | MONDO:0018849 +BMGC_DS00621,BMG_DS000795,UMLS ID:C0011548 | MONDO:0001157 | DOID:10931 | dependent personality disorder +BMGC_DS00622,BMG_DS000796,DOID:1596 | depressive disorder | UMLS ID:C0011570 +BMGC_DS00623,BMG_DS000797,DOID:1595 | endogenous depression | melancholic depression | MONDO:0012048 | UMLS ID:C0011573 +BMGC_DS00624,BMG_DS000798,UMLS ID:C0011579 | neurotic disorder | DOID:4964 +BMGC_DS00625,BMG_DS000799,UMLS ID:C0011581 | MONDO:0002050 | depressive disorder +BMGC_DS00626,BMG_DS000800,Dermatitis (disorder) | Inflammation of skin | UMLS ID:C0011603 | SNOMEDCT ID:238538009 | dermatitis | SNOMEDCT ID:43116000 | Dermatitis | SNOMEDCT ID:182782007 | Inflammatory dermatosis | Eczema (disorder) | MeSH ID:D003872 | Inflammatory dermatosis (disorder) | SNOMEDCT ID:4979002 | DOID:2723 | SNOMEDCT ID:703938007 | OMIM ID:MTHU001691 | Eczema +BMGC_DS00627,BMG_DS000801,Generalised exfoliative dermatitis | Erythrodermic eczema | Erythroderma (disorder) | Erythematous eczema | Exfoliative eczema | Acute eczema | SNOMEDCT ID:399992009 | Scaling eczematous dermatitis | exfoliative dermatitis | ICD10 ID:L26 | OMIM ID:MTHU072636 | Erythrodermatitis | Scaling eczema | Scaling eczema (disorder) | Desquamative eczema | SNOMEDCT ID:123702007 | Generalized exfoliative dermatitis | MONDO:0043233 | Exfoliative dermatitis | Acute eczema (disorder) | Exfoliative eczematous dermatitis | UMLS ID:C0011606 | SNOMEDCT ID:55012006 | Erythroderma | Desquamative eczematous dermatitis +BMGC_DS00628,BMG_DS000802,MeSH ID:D003874 | dermatitis herpetiformis | MONDO:0015614 | UMLS ID:C0011608 | Dermatitis Herpetiformis | DOID:8505 +BMGC_DS00629,BMG_DS000803,"MONDO:0004980 | atopic dermatitis | OMIM ID:603165 | atopic eczema | Dermatitis, Atopic | UMLS ID:C0011615 | DOID:3310 | MeSH ID:D003876" +BMGC_DS00630,BMG_DS000804,"DOID:2773 | Contact Dermatitis | MONDO:0005480 | UMLS ID:C0011616 | Dermatitis, Contact | MeSH ID:D003877 | contact dermatitis" +BMGC_DS00631,BMG_DS000806,UMLS ID:C0011630 | MONDO:0002040 | MeSH ID:D003881 | DOID:1563 | Dermatomycoses | dermatomycosis +BMGC_DS00632,BMG_DS000807,UMLS ID:C0011633 | Dermatomyositis | DM - Dermatomyositis | Dermatomyositis (& [Poikilodermatomyositis]) (disorder) | Wagner-Unverricht syndrome | SNOMEDCT ID:156456005 | MeSH ID:D003882 | dermatomyositis | Dermatomyositis (& [Poikilodermatomyositis]) | SNOMEDCT ID:201445002 | MONDO:0016367 | DOID:10223 | OMIM ID:MTHU018873 | Polymyositis with skin involvement | Poikilodermatomyositis | Adult type dermatomyositis | Dermatomyositis (disorder) | SNOMEDCT ID:38826005 | SNOMEDCT ID:396230008 +BMGC_DS00633,BMG_DS000808,Mycoses | MONDO:0004678 | Fungal infection | SNOMEDCT ID:266214005 | Dermatophytosis | SNOMEDCT ID:47382004 | Ringworm | Tinea | SNOMEDCT ID:154394006 | UMLS ID:C0011636 | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | Dermatophytosis (disorder) | ICD10 ID:B35 | Dermatophytosis-tinea/ringworm | DOID:8913 | dermatophytosis | Fungal infections | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder) | Microsporic tinea +BMGC_DS00634,BMG_DS000809,Dermatophytosis of groin and perianal area (disorder) | Tinea of perianal region | Ringworm of genitocrural region | Tinea cruris | Tinea inguinalis | SNOMEDCT ID:59089002 | SNOMEDCT ID:266150008 | Tinea of groin | tinea cruris | Tinea cruris (disorder) | MONDO:0001405 | (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) (disorder) | Dermatophytosis of groin | UMLS ID:C0011638 | Jock itch | Dermatophytosis of groin and pubic area | Eczema marginatum | SNOMEDCT ID:186989008 | Hebrae | DOID:11917 | dermatophytosis of groin and perianal area | Dermatophytosis of groin and perianal area | Dhobie itch | (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) +BMGC_DS00635,BMG_DS000810,UMLS ID:C0011640 | DOID:4337 | tinea capitis | MONDO:0002967 | dermatophytosis of scalp or beard +BMGC_DS00636,BMG_DS000811,SNOMEDCT ID:201441006 | Scleroderma (& [systemic sclerosis]) | MONDO:0019340 | Acrosclerosis | Systemic scleroderma | SNOMEDCT ID:201440007 | SNOMEDCT ID:267874003 | SNOMEDCT ID:89155008 | Systemic sclerosis (disorder) | SNOMEDCT ID:128457007 | Systemic sclerosis | Thibierge-Weissenbach syndrome | scleroderma | Scleroderma syndrome (disorder) | SS - Systemic sclerosis | OMIM ID:MTHU010137 | SNOMEDCT ID:268049000 | Scleroderma (& [acrosclerosis] or [systemic sclerosis]) | Scleroderma (& [acrosclerosis] or [systemic sclerosis]) (disorder) | Scleroderma (disorder) | SNOMEDCT ID:156451000 | UMLS ID:C0011644 | Scleroderma (& [systemic sclerosis]) (disorder) | DOID:419 | Scleroderma syndrome | Scleroderma +BMGC_DS00637,BMG_DS000812,OMIM ID:125600 | Dermatosis Papulosa Nigra | MONDO:0007446 | dermatosis papulosa nigra | UMLS ID:C0011645 | DOID:4400 | MeSH ID:C562379 +BMGC_DS00638,BMG_DS000813,DOID:2658 | MONDO:0002378 | UMLS ID:C0011649 | dermoid cyst +BMGC_DS00639,BMG_DS000814,UMLS ID:C0011757 | MONDO:0004922 | developmental coordination disorder | DOID:9923 +BMGC_DS00640,BMG_DS000815,DOID:9565 | UMLS ID:C0011813 | MONDO:0015661 | dextrocardia +BMGC_DS00641,BMG_DS000816,Diabetes | OMIM ID:MTHU050182 | UMLS ID:C0011847 +BMGC_DS00642,BMG_DS000817,Diabetes Insipidus | diabetes insipidus | MeSH ID:D003919 | MONDO:0004782 | DOID:9409 | UMLS ID:C0011848 +BMGC_DS00643,BMG_DS000818,MONDO:0005015 | DOID:9351 | Diabetes Mellitus | MeSH ID:D003920 | diabetes mellitus | UMLS ID:C0011849 +BMGC_DS00644,BMG_DS000819,"MeSH ID:D003922 | type 1 diabetes mellitus | Diabetes Mellitus, Insulin-Dependent | OMIM ID:222100 | UMLS ID:C0011854 | DOID:9744 | Diabetes Mellitus, Type 1 | MONDO:0005147" +BMGC_DS00645,BMG_DS000820,"MeSH ID:D003923 | lipoatrophic diabetes | UMLS ID:C0011859 | lipoatrophic diabetes mellitus | Diabetes Mellitus, Lipoatrophic | Lipoatrophic Diabetes Mellitus | MONDO:0005827 | DOID:11712" +BMGC_DS00646,BMG_DS000821,"Diabetes Mellitus, Non-Insulin-Dependent | DOID:9352 | OMIM ID:125853 | type 2 diabetes mellitus | Diabetes Mellitus, Type 2 | MeSH ID:D003924 | MONDO:0005148 | UMLS ID:C0011860" +BMGC_DS00647,BMG_DS000823,SNOMEDCT ID:127014009 | Peripheral angiopathy due to diabetes mellitus (disorder) | Diabetic peripheral angiopathy | Diabetes with peripheral circulatory disorders | SNOMEDCT ID:982001 | DOID:11713 | Peripheral angiopathy due to diabetes mellitus | MONDO:0000960 | Diabetic peripheral vascular disease | Diabetes with peripheral circulatory disorder | Diabetes with peripheral circulatory disorders (disorder) | UMLS ID:C0011871 | diabetic angiopathy | diabetic peripheral angiopathy +BMGC_DS00648,BMG_DS000824,DOID:11713 | UMLS ID:C0011875 | MeSH ID:D003925 | diabetic angiopathy | Diabetic Angiopathies +BMGC_DS00649,BMG_DS000825,UMLS ID:C0011876 | Cataract of eye due to diabetes mellitus | MONDO:0001687 | Cataract due to diabetes mellitus | diabetic cataract | DOID:13328 | Diabetic cataract | SNOMEDCT ID:43959009 | Cataract of eye due to diabetes mellitus (disorder) +BMGC_DS00650,BMG_DS000827,UMLS ID:C0011880 | Diabetic Ketoacidosis | MONDO:0012819 | MeSH ID:D016883 | diabetic ketoacidosis | DOID:1837 +BMGC_DS00651,BMG_DS000828,Diabetic Nephropathies | Diabetic Nephropathy | MeSH ID:D003928 | MONDO:0005016 | UMLS ID:C0011881 | diabetic kidney disease +BMGC_DS00652,BMG_DS000829,DOID:9743 | MeSH ID:D003929 | MONDO:0006626 | Diabetic Neuropathies | diabetic neuropathy | UMLS ID:C0011882 +BMGC_DS00653,BMG_DS000830,MONDO:0005266 | Diabetic Retinopathy | diabetic retinopathy | DOID:8947 | MeSH ID:D003930 | UMLS ID:C0011884 +BMGC_DS00654,BMG_DS000831,UMLS ID:C0011974 | MeSH ID:D003963 | Diaper Rash +BMGC_DS00655,BMG_DS000832,DOID:10480 | MONDO:0006726 | diaphragmatic eventration | UMLS ID:C0011981 +BMGC_DS00656,BMG_DS000834,UMLS ID:C0011989 | OMIM ID:131300 | MONDO:0007542 | Camurati-Engelmann disease | MeSH ID:D003966 | Camurati-Engelmann Syndrome | DOID:4997 +BMGC_DS00657,BMG_DS000836,VIPoma | UMLS ID:C0011993 | DOID:5574 | MONDO:0019960 +BMGC_DS00658,BMG_DS000837,UMLS ID:C0011999 | MONDO:0009106 | diastematomyelia | OMIM ID:222500 +BMGC_DS00659,BMG_DS000838,SNOMEDCT ID:8410006 | DOID:1219 | dicrocoeliasis | Dicrocoeliasis | Dicroceliasis | MONDO:0005729 | Dicroceliosis | Dicrocoeliosis | Infection caused by Dicrocoelium dendriticum | Dicrocoeliasis (disorder) | UMLS ID:C0012102 | MeSH ID:D004011 | Lancet fluke infection +BMGC_DS00660,BMG_DS000840,UMLS ID:C0012147 | Dientamoebiasis | dientamoebiasis | MONDO:0024608 | DOID:946 | MeSH ID:D004030 +BMGC_DS00661,BMG_DS000841,MeSH ID:D004062 | MONDO:0008564 | DiGeorge Syndrome | UMLS ID:C0012236 | DOID:11198 | OMIM ID:188400 | DiGeorge syndrome +BMGC_DS00662,BMG_DS000842,MeSH ID:D004066 | Digestive System Diseases | Digestive System Disorders | UMLS ID:C0012242 | gastrointestinal system disease | DOID:77 +BMGC_DS00663,BMG_DS000843,DOID:3119 | MONDO:0021223 | digestive system neoplasm | gastrointestinal system cancer | UMLS ID:C0012243 +BMGC_DS00664,BMG_DS000845,UMLS ID:C0012517 | MeSH ID:D004154 | dipetalonemiasis | MONDO:0005731 | DOID:14422 | Dipetalonema Infections +BMGC_DS00665,BMG_DS000846,MONDO:0005504 | Diphtheria | ICD10 ID:A36 | Diphtheria (disorder) | SNOMEDCT ID:397428000 | SNOMEDCT ID:154299004 | UMLS ID:C0012546 | diphtheria | Infection due to Corynebacterium diphtheriae | SNOMEDCT ID:3739008 +BMGC_DS00666,BMG_DS000849,DOID:12275 | UMLS ID:C0012555 | Cutaneous diphtheria | ICD10 ID:A36.3 | ICD11 ID:1C17.3 | SNOMEDCT ID:18901009 | MONDO:0001479 | Cutaneous diphtheria (disorder) | cutaneous diphtheria +BMGC_DS00667,BMG_DS000853,SNOMEDCT ID:187151009 | Diphyllobothrium infection | DOID:10075 | ICD11 ID:1F71 | MeSH ID:D004169 | ICD10 ID:B70.0 | Fish tapeworm infection | Diphyllobothriasis | Diphyllobothriasis (disorder) | diphyllobothriasis | UMLS ID:C0012561 | MONDO:0015260 | Infection by Diphyllobothrium | SNOMEDCT ID:49047003 | Infection by Diphyllobothrium (disorder) +BMGC_DS00668,BMG_DS000854,OMIM ID:MTHU000786 | ICD10 ID:H53.2 | SNOMEDCT ID:162276002 | SNOMEDCT ID:139545001 | UMLS ID:C0012569 | SNOMEDCT ID:24982008 | ICD11 ID:9D46 | Impairment of binocular functions | Diplopia | Double vision | SNOMEDCT ID:155141003 | Seeing double | Diplopia (disorder) | MeSH ID:D004172 | Diplopia (finding) +BMGC_DS00669,BMG_DS000855,"DOID:1082 | Dirofilariosis | Infection caused by Dirofilaria (disorder) | ICD10 ID:B74.8 | UMLS ID:C0012602 | Filariasis, unspecified | Infection by Dirofilaria | SNOMEDCT ID:73328005 | Infection caused by Dirofilaria | ICD11 ID:1F66.Z | dirofilariasis | MONDO:0015636 | Dirofilariasis | MeSH ID:D004184" +BMGC_DS00670,BMG_DS000856,Discitis | Discitis (disorder) | Inflammatory discitis | MeSH ID:D015299 | SNOMEDCT ID:2304001 | UMLS ID:C0012624 | obsolete discitis | DOID:10986 | Intervertebral discitis | discitis | MONDO:0006728 +BMGC_DS00671,BMG_DS000857,MONDO:0006729 | discrete subaortic stenosis | MeSH ID:D021922 | Discrete Subaortic Stenosis | UMLS ID:C0012628 | DOID:5804 +BMGC_DS00672,BMG_DS000858,UMLS ID:C0012634 | Disorder | Disease (disorder) | Disease | Disorders | SNOMEDCT ID:64572001 | Syndrome | disease | MONDO:0000001 | DOID:4 | Diseases | MeSH ID:D004194 | Clinical disease AND/OR syndrome +BMGC_DS00673,BMG_DS000863,Iron Metabolism Disorders | MeSH ID:D019189 | iron metabolism disease | MONDO:0002279 | UMLS ID:C0012715 | DOID:2351 +BMGC_DS00674,BMG_DS000864,Disorder of magnesium metabolism (disorder) | SNOMEDCT ID:60853003 | Disorder of magnesium metabolism | UMLS ID:C0012716 +BMGC_DS00675,BMG_DS000865,UMLS ID:C0012734 | MONDO:0800106 | disruptive behavior disorder +BMGC_DS00676,BMG_DS000866,UMLS ID:C0012736 | SNOMEDCT ID:67076004 | SNOMEDCT ID:308546005 | Dissecting aortic aneurysm | Dissecting aortic aneurysm (disorder) | Dissection of aorta | Dissection of aorta (disorder) | SNOMEDCT ID:155420000 +BMGC_DS00677,BMG_DS000868,DOID:11247 | UMLS ID:C0012739 | MeSH ID:D004211 | MONDO:0001243 | disseminated intravascular coagulation | Disseminated Intravascular Coagulation +BMGC_DS00678,BMG_DS000869,MONDO:0001160 | dissociative disorder | DOID:10935 | UMLS ID:C0012746 +BMGC_DS00679,BMG_DS000872,UMLS ID:C0012813 | Diverticulitis (& [of intestine]) | Diverticulitis (& [of intestine]) (disorder) | MeSH ID:D004238 | Diverticulitis | OMIM ID:MTHU026283 | SNOMEDCT ID:307496006 | DOID:7475 | SNOMEDCT ID:155779000 | MONDO:0004235 | SNOMEDCT ID:18126004 | Diverticulitis (morphologic abnormality) | diverticulitis | Diverticulitis (disorder) | SNOMEDCT ID:197095003 +BMGC_DS00680,BMG_DS000873,"diverticulitis of colon | MeSH ID:D004239 | DOID:13254 | Diverticulitis, Colonic | Colonic Diverticulitis | MONDO:0001674 | UMLS ID:C0012814" +BMGC_DS00681,BMG_DS000875,DD - Diverticular disease | Diverticulosis of colon without diverticulitis (disorder) | SNOMEDCT ID:68047000 | Diverticulosis of colon | Diverticulosis of colon without diverticulitis | Diverticulosis | UMLS ID:C0012819 | SNOMEDCT ID:398050005 | Diverticular disease of colon (disorder) | Diverticular disease | Diverticular disease of large intestine | Symptomatic diverticulosis of colon | Diverticular disease of colon | Diverticulosis of the colon +BMGC_DS00682,BMG_DS000877,UMLS ID:C0012979 | dog disease | Dog Diseases | MONDO:0024919 | MeSH ID:D004283 +BMGC_DS00683,BMG_DS000878,UMLS ID:C0013069 | double outlet right ventricle | DOID:6406 | MONDO:0018089 +BMGC_DS00684,BMG_DS000880,UMLS ID:C0013080 | MeSH ID:D004314 | OMIM ID:190685 | MONDO:0008608 | Down syndrome | Down Syndrome | DOID:14250 +BMGC_DS00685,BMG_DS000881,MeSH ID:D004320 | ICD10 ID:B72 | DOID:14418 | Dracunculiasis | Dracunculosis | SNOMEDCT ID:48874008 | Infection caused by Dracunculus medinensis (disorder) | Guinea-worm ulcer | Infection by Dracunculus medinensis (disorder) | Dracontiasis - guinea-worm | Infection by Dracunculus medinensis | SNOMEDCT ID:396334002 | Dracontiasis | dracunculiasis | Guinea-worm infection | MONDO:0016472 | UMLS ID:C0013100 | Guinea worm disease | Infection caused by Dracunculus medinensis +BMGC_DS00686,BMG_DS000882,UMLS ID:C0013146 | DOID:302 | substance abuse +BMGC_DS00687,BMG_DS000883,drug allergy | UMLS ID:C0013182 | MONDO:0000775 +BMGC_DS00688,BMG_DS000884,Dry Eye Syndromes | MeSH ID:D015352 | dry eye syndrome | UMLS ID:C0013238 | MONDO:0006733 | DOID:10140 +BMGC_DS00689,BMG_DS000885,MONDO:0001752 | Marginal periodontitis (disorder) | UMLS ID:C0013240 | Marginal periodontitis | Alveolar periostitis (disorder) | DOID:13585 | alveolar periostitis | SNOMEDCT ID:251331003 | Alveolar periostitis | SNOMEDCT ID:12033006 +BMGC_DS00690,BMG_DS000886,Duane retraction syndrome | MONDO:0007473 | Duane Retraction Syndrome | MeSH ID:D004370 | DOID:12557 | UMLS ID:C0013261 +BMGC_DS00691,BMG_DS000887,"DOID:11723 | OMIM ID:310200 | Duchenne muscular dystrophy | MeSH ID:D020388 | MONDO:0010679 | Muscular Dystrophy, Duchenne | UMLS ID:C0013264" +BMGC_DS00692,BMG_DS000888,MONDO:0011827 | patent ductus arteriosus | DOID:13832 | UMLS ID:C0013274 +BMGC_DS00693,BMG_DS000889,UMLS ID:C0013288 | MeSH ID:D004377 | dumping syndrome | Dumping Syndrome | DOID:14495 | MONDO:0001979 +BMGC_DS00694,BMG_DS000890,duodenal disorder | MONDO:0002866 | duodenum disease | DOID:4072 | Duodenal Diseases | MeSH ID:D004378 | UMLS ID:C0013289 +BMGC_DS00695,BMG_DS000891,MONDO:0021375 | UMLS ID:C0013291 | tumor of duodenum | DOID:1737 | duodenal benign neoplasm +BMGC_DS00696,BMG_DS000892,duodenal obstruction | UMLS ID:C0013292 | MONDO:0002688 | Duodenal Obstruction | DOID:3558 | MeSH ID:D004380 +BMGC_DS00697,BMG_DS000893,duodenal ulcer | UMLS ID:C0013295 | DOID:1724 | MeSH ID:D004381 | MONDO:0005412 | Duodenal Ulcer +BMGC_DS00698,BMG_DS000894,"UMLS ID:C0013298 | Duodenitis, unspecified | DOID:8643 | Duodenitis | OMIM ID:MTHU072206 | SNOMEDCT ID:155715004 | MeSH ID:D004382 | MONDO:0004627 | ICD10 ID:K29.8 | ICD11 ID:DA51.Z | duodenitis | SNOMEDCT ID:72007001 | Duodenitis (disorder)" +BMGC_DS00699,BMG_DS000895,Duodenogastric Reflux | DOID:4071 | duodenogastric reflux | UMLS ID:C0013299 | MeSH ID:D004383 | MONDO:0006735 +BMGC_DS00700,BMG_DS000896,OMIM ID:126900 | Dupuytren Contracture | familial Dupuytren contracture | MeSH ID:D004387 | MONDO:0007476 | UMLS ID:C0013312 +BMGC_DS00701,BMG_DS000897,Normal dwarf | True dwarfism | Achondroplastic dwarf | (Achondroplasia) or (achondrogenesis) or (dwarfism (& achondroplastic)) | SNOMEDCT ID:205467007 | Achondrogenesis | Nanosomia | Dwarfism | MeSH ID:D004392 | SS - Short stature | Short stature disorder | SNOMEDCT ID:237836003 | Short stature | SNOMEDCT ID:90482002 | Small stature | Dwarfism (disorder) | Primordial dwarf | SNOMEDCT ID:185797004 | OMIM ID:MTHU009274 | (Achondroplasia) or (achondrogenesis) or (dwarfism (& achondroplastic)) (disorder) | Short stature disorder (disorder) | Achondroplasia | UMLS ID:C0013336 +BMGC_DS00702,BMG_DS000898,Pituitary dwarfism (disorder) | Prepuberal dwarfism | MONDO:0006909 | SNOMEDCT ID:367460001 | Hypophyseal dwarfism | Prepubertal dwarfism | UMLS ID:C0013338 | Hypopituitary dwarfism | pituitary dwarfism | Pituitary nanism | Isolated deficiency of growth hormone in children | SNOMEDCT ID:190476004 | DOID:0060870 | Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] (disorder) | Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] | Lorain - Levi dwarfism | Hyposomatotropic dwarfism | Pituitary dwarfism | SNOMEDCT ID:154701008 | isolated growth hormone deficiency | SNOMEDCT ID:270485009 | SNOMEDCT ID:45617007 +BMGC_DS00703,BMG_DS000899,Disorder of autonomic nervous system | MONDO:0044872 | Disorders of autonomic nervous system | Disorder of autonomic nervous system (disorder) | UMLS ID:C0013363 | SNOMEDCT ID:15241006 | dysautonomia | OMIM ID:MTHU005895 | Disorder of vegetative system | Dysautonomia +BMGC_DS00704,BMG_DS000900,"DOID:11589 | MeSH ID:D004402 | OMIM ID:223900 | Dysautonomia, Familial | UMLS ID:C0013364 | MONDO:0009131 | Riley-Day syndrome" +BMGC_DS00705,BMG_DS000901,(Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) | MeSH ID:D004403 | diarrhea | UMLS ID:C0013369 | Specific GIT infectious dis. | Gastroenteritis - bact. | dysentery | SNOMEDCT ID:266173000 | Diarrhea-bact.GIT inf. | Bacterial gastroenteritis | Specific gastrointestinal infectious disease | Diarrhoea-bact.GIT inf. | SNOMEDCT ID:111939009 | SNOMEDCT ID:154268000 | Dysentery | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) (disorder) | Dysentery (disorder) | MONDO:0001517 | DOID:12384;DOID:13250 | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhea]) +BMGC_DS00706,BMG_DS000902,amebic dysentery | MONDO:0024275 | SNOMEDCT ID:235747003 | UMLS ID:C0013370 | Amebic colitis | Amoebic colitis | Amebic colitis (disorder) +BMGC_DS00707,BMG_DS000903,"UMLS ID:C0013371 | DOID:12385 | Dysentery, Bacillary | MeSH ID:D004405 | Shigella Infections | MONDO:0019345 | shigellosis" +BMGC_DS00708,BMG_DS000904,OMIM ID:MTHU007448 | DOID:11702 | Dysgammaglobulinaemia | Dysgammaglobulinemia (disorder) | dysgammaglobulinemia | UMLS ID:C0013374 | Dysgammaglobulinemia (finding) | MONDO:0001342 | SNOMEDCT ID:127389001 | SNOMEDCT ID:123782009 | MeSH ID:D004406 | Dysgammaglobulinemia +BMGC_DS00709,BMG_DS000905,UMLS ID:C0013377 | dysgerminoma | MONDO:0003002 | DOID:4441 +BMGC_DS00710,BMG_DS000906,"Dyskinesia, Drug-Induced | MeSH ID:D004409 | UMLS ID:C0013386 | MONDO:0006732 | drug-induced dyskinesia" +BMGC_DS00711,BMG_DS000907,DOID:13417 | UMLS ID:C0013388 | alexia +BMGC_DS00712,BMG_DS000908,SNOMEDCT ID:198404001 | MeSH ID:D004412 | Spasmodic dysmenorrhoea | Dysmenorrhoea (& spasmodic) | Dysmenorrhea (finding) | SNOMEDCT ID:266599000 | Dysmenorrhoea (disorder) | Dysmenorrhoea | Dysmenorrhea | Painful menorrhoea | Menstrual cramps | Period pains | Dysmenorrhoea (& spasmodic) (disorder) | Painful menstruation | UMLS ID:C0013390 | SNOMEDCT ID:29837005 | Painful menorrhea | SNOMEDCT ID:367433008 | Period pain | Spasmodic dysmenorrhea | Dysmenorrhea (disorder) | Menorrhalgia | SNOMEDCT ID:156030009 | Dysmenorrhea (& spasmodic) +BMGC_DS00713,BMG_DS000909,dysostosis | Dysostoses | UMLS ID:C0013393 | MONDO:0018234 | MeSH ID:D004413 | DOID:1934 +BMGC_DS00714,BMG_DS000911,dyspepsia | MONDO:0002268 | UMLS ID:C0013395 +BMGC_DS00715,BMG_DS000912,DOID:1159 | functional gastric disease | UMLS ID:C0013396 +BMGC_DS00716,BMG_DS000914,DOID:12139 | dysthymic disorder | UMLS ID:C0013415 | MONDO:0001442 +BMGC_DS00717,BMG_DS000916,MONDO:0003441 | DOID:543 | dystonic disorder | UMLS ID:C0013421 | dystonia +BMGC_DS00718,BMG_DS000917,MONDO:0044843 | Dystonia Musculorum Deformans | UMLS ID:C0013423 | DOID:0050835 | torsion dystonia | MeSH ID:D004422 | generalized dystonia +BMGC_DS00719,BMG_DS000918,vulvar dystrophy | ICD10 ID:N90.4 | SNOMEDCT ID:51689003 | Lichen sclerosus of vulva | DOID:14292 | MONDO:0001938 | ICD11 ID:EB60.0 | UMLS ID:C0013426 | SNOMEDCT ID:198378001 | Dystrophy of vulva | Dystrophy of vulva (disorder) +BMGC_DS00720,BMG_DS000919,MeSH ID:D004427 | MONDO:0021205 | DOID:2742 | Ear Diseases | disorder of ear | auditory system disease | UMLS ID:C0013447 +BMGC_DS00721,BMG_DS000920,ear neoplasm | DOID:833 | auditory system cancer | MONDO:0021233 | UMLS ID:C0013449 +BMGC_DS00722,BMG_DS000922,eating disorder | MONDO:0005451 | UMLS ID:C0013473 | DOID:8670 +BMGC_DS00723,BMG_DS000923,OMIM ID:224700 | DOID:14289 | MONDO:0009144 | Ebstein anomaly | UMLS ID:C0013481 +BMGC_DS00724,BMG_DS000924,ICD10 ID:B67 | Echinococcosis | SNOMEDCT ID:154414008 | Echinococcosis (disorder) | Hydatid disease | echinococcosis | Echinococciasis | Hydatidosis | MeSH ID:D004443 | DOID:1496 | MONDO:0005738 | SNOMEDCT ID:74942003 | UMLS ID:C0013502 | Echinococcus disease +BMGC_DS00725,BMG_DS000927,"ICD11 ID:1F8Z | MONDO:0005739 | MeSH ID:D004451 | DOID:1218 | Echinostomosis | Echinostomiasis | Diseases due to trematodes, unspecified | UMLS ID:C0013514 | echinostomiasis | Echinostomiasis (disorder) | SNOMEDCT ID:36607007 | ICD10 ID:B66.8" +BMGC_DS00726,BMG_DS000928,DOID:4188 | UMLS ID:C0013528 | echolalia | MONDO:0002904 +BMGC_DS00727,BMG_DS000930,Toxemia with convulsions | ICD10 ID:O15 | OMIM ID:MTHU074894 | MONDO:0001754 | Eclampsia (disorder) | eclampsia | MeSH ID:D004461 | DOID:13593 | Eclampsia | SNOMEDCT ID:156111007 | SNOMEDCT ID:198988006 | Eclamptic toxemia | UMLS ID:C0013537 | Toxaemia with convulsions | Eclamptic toxaemia | SNOMEDCT ID:15938005 +BMGC_DS00728,BMG_DS000931,UMLS ID:C0013568 | DOID:11907 | SNOMEDCT ID:85791004 | MONDO:0001404 | MeSH ID:D004473 | Ecthyma | ecthyma | Ecthyma (disorder) | SNOMEDCT ID:762694009 +BMGC_DS00729,BMG_DS000932,"Ecthyma, Contagious | MeSH ID:D004474 | contagious pustular dermatitis | MONDO:0005717 | DOID:8771 | UMLS ID:C0013570" +BMGC_DS00730,BMG_DS000933,ectodermal dysplasia | MeSH ID:D004476 | UMLS ID:C0013575 | ectodermal dysplasia syndrome | DOID:2121 | Ectodermal Dysplasia | MONDO:0019287 +BMGC_DS00731,BMG_DS000934,parasitic ectoparasitic infectious disease | UMLS ID:C0013578 | MONDO:0002875 | Ectoparasitic Infestations | MeSH ID:D004478 | DOID:4110 +BMGC_DS00732,BMG_DS000936,isolated ectopia lentis | UMLS ID:C0013581 | DOID:0111148 +BMGC_DS00733,BMG_DS000937,"Ectromelia, Infectious | MeSH ID:D004482 | MONDO:0005809 | UMLS ID:C0013591 | infectious ectromelia" +BMGC_DS00734,BMG_DS000938,ectropion | MeSH ID:D004483 | UMLS ID:C0013592 | Ectropion (disorder) | Everted margin | Everted margin (morphologic abnormality) | SNOMEDCT ID:62909004 | OMIM ID:MTHU037564 | MONDO:0002043 | Eyelid turned out | Ectropion of eyelid | Eversion of the eyelid | Ectropion | DOID:1570 | SNOMEDCT ID:127559009 | Ectropion of eyelid (disorder) | SNOMEDCT ID:155178000 | Eyelashes turned out | Eyelid everted +BMGC_DS00735,BMG_DS000939,SNOMEDCT ID:238538009 | MeSH ID:D004485 | SNOMEDCT ID:43116000 | SNOMEDCT ID:156326000 | Dermatitis | OMIM ID:MTHU003535 | Eczema (disorder) | UMLS ID:C0013595 | Eczema +BMGC_DS00736,BMG_DS000944,MONDO:0020066 | DOID:13359 | MeSH ID:D004535 | Ehlers-Danlos syndrome | Ehlers-Danlos Syndrome | UMLS ID:C0013720 +BMGC_DS00737,BMG_DS000946,Elaeophoriasis | UMLS ID:C0013755 | Filariasis | MeSH ID:D005368 +BMGC_DS00738,BMG_DS000947,Lymphatic filariasis (disorder) | podoconiosis | MONDO:0005424 | Elephantiasis | DOID:0050138;DOID:4976 | (Elephantiasis) or (lymphedema [& NOS]) | MeSH ID:D004604 | elephantiasis | Lymphatic filariasis | SNOMEDCT ID:240820001 | Lymphoedema | Lymphoedema NOS | Filarial elephantiasis | Lymphedema NOS | (Elephantiasis) or (lymphoedema [& NOS]) | UMLS ID:C0013882 | Lymphedema | SNOMEDCT ID:155485008 | SNOMEDCT ID:266334008 | (Elephantiasis) or (lymphoedema [& NOS]) (disorder) +BMGC_DS00739,BMG_DS000948,"MONDO:0005761 | UMLS ID:C0013884 | filarial elephantiasis | Elephantiasis, Filarial | DOID:12211 | MeSH ID:D004605 | Filarial Elephantiases" +BMGC_DS00740,BMG_DS000949,"MONDO:0017319 | MeSH ID:D004612 | UMLS ID:C0013902 | DOID:2373 | Elliptocytosis, Hereditary | hereditary elliptocytosis" +BMGC_DS00741,BMG_DS000950,MeSH ID:D004613 | DOID:12714 | UMLS ID:C0013903 | MONDO:0009162 | Ellis-Van Creveld Syndrome | Ellis-van Creveld syndrome | OMIM ID:225500 | Ellis-Van Creveld syndrome +BMGC_DS00742,BMG_DS000953,MeSH ID:D005315 | UMLS ID:C0013949 | Fetal Diseases | Embryopathies +BMGC_DS00743,BMG_DS000954,UMLS ID:C0014008 | empty sella syndrome | MeSH ID:D004652 | DOID:3642 | Empty Sella Syndrome | MONDO:0006740 +BMGC_DS00744,BMG_DS000956,"UMLS ID:C0014012 | MeSH ID:D002764 | Empyema, Gallbladder | Cholecystitis" +BMGC_DS00745,BMG_DS000957,"UMLS ID:C0014013 | Empyema, Pleural | MeSH ID:D016724 | DOID:3798 | MONDO:0018667 | pleural empyema" +BMGC_DS00746,BMG_DS000958,"UMLS ID:C0014014 | DOID:14305 | MeSH ID:D004654 | MONDO:0005999 | tuberculous empyema | Empyema, Tuberculous" +BMGC_DS00747,BMG_DS000959,Myelitis | DOID:9588 | Encephalitis | Encephalitis/myelitis | OMIM ID:MTHU007426 | MeSH ID:D004660 | SNOMEDCT ID:267682000 | encephalitis | MONDO:0019956 | Encephalitis (disorder) | UMLS ID:C0014038 | SNOMEDCT ID:45170000 | Encephalitis &/or myelitis | Encephalitis &/or myelitis (disorder) +BMGC_DS00748,BMG_DS000960,encephalitis lethargica | DOID:5225 | von Economo's disease | UMLS ID:C0014040 | MONDO:0019384 +BMGC_DS00749,BMG_DS000961,"La Crosse encephalitis | DOID:0050118 | MeSH ID:D004670 | UMLS ID:C0014053 | Encephalitis, California" +BMGC_DS00750,BMG_DS000962,"DOID:0050175 | UMLS ID:C0014054 | Encephalitis, Tick-Borne | Encephalitis, Central European | tick-borne encephalitis | MeSH ID:D004675" +BMGC_DS00751,BMG_DS000963,Arbovirus encephalitis (disorder) | Arbovirus encephalitis | Arboviral encephalitis | viral encephalitis | SNOMEDCT ID:68197003 | SNOMEDCT ID:192687008 | DOID:646 | UMLS ID:C0014055 +BMGC_DS00752,BMG_DS000964,"Japanese Encephalitis | Encephalitis, Japanese | UMLS ID:C0014057 | Japanese encephalitis | MeSH ID:D004672 | DOID:10844 | MONDO:0019209" +BMGC_DS00753,BMG_DS000966,"UMLS ID:C0014059 | Encephalomyelitis, Acute Disseminated | MONDO:0019383 | DOID:639 | MeSH ID:D004673 | acute disseminated encephalomyelitis" +BMGC_DS00754,BMG_DS000967,"MeSH ID:D004674 | DOID:10845 | st. Louis encephalitis | St. Louis encephalitis | MONDO:0005969 | Encephalitis, St. Louis | UMLS ID:C0014060" +BMGC_DS00755,BMG_DS000969,cephalocele | UMLS ID:C0014065 | MONDO:0017078 +BMGC_DS00756,BMG_DS000971,MONDO:0017080 | occipital encephalocele | UMLS ID:C0014067 +BMGC_DS00757,BMG_DS000972,encephalomalacia | UMLS ID:C0014068 | DOID:2034 | Encephalomalacia (disorder) | SNOMEDCT ID:58762006 | MeSH ID:D004678 | OMIM ID:MTHU061960 | MONDO:0006741 | Encephalomalacia +BMGC_DS00758,BMG_DS000973,"Myelitis | Encephalomyelitis (disorder) | Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis | Encephalomyelitis | SNOMEDCT ID:62950007 | UMLS ID:C0014070 | SNOMEDCT ID:192682002 | MONDO:0005156 | Encephalitis/myelitis NOS | Encephalitis/myelitis: [NOS] or [encephalomyelitis & (myalgic)] | MeSH ID:D004679 | Myalgic encephalomyelitis | Encephalitis/myelitis: [NOS] or [encephalomyelitis & (myalgic)] (disorder) | Transverse myelitis | encephalomyelitis | Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis (disorder) | SNOMEDCT ID:154991009 | DOID:640 | Encephalitis, myelitis and encephalomyelitis | SNOMEDCT ID:267684004" +BMGC_DS00759,BMG_DS000976,"UMLS ID:C0014077 | MONDO:0011716 | acute hemorrhagic leukoencephalitis | DOID:10992 | MeSH ID:D004684 | Leukoencephalitis, Acute Hemorrhagic | OMIM ID:606752" +BMGC_DS00760,BMG_DS000977,VEE | Venezuelan equine encephalomyelitis | MONDO:0006005 | Venezuelan equine fever | UMLS ID:C0014078 | Venezuelan equine encephalitis (disorder) | Venezuelan equine encephalitis | VEE - Venezuelan equine encephalitis | DOID:9584 | SNOMEDCT ID:89990001 +BMGC_DS00761,BMG_DS000978,Ollier's disease | OMIM ID:166000 | Dyschondroplasia | Chondrodystophy NEC | Ollier disease | Benign osteogenic tumour of unspecified site | Enchondromatosis | MeSH ID:D004687 | ICD10 ID:Q78.4 | DOID:0060221;DOID:0090015 | Enchondromatosis (disorder) | SNOMEDCT ID:268274005 | (Multi enchondromata) or (enchondromat) or (Ollier dis) or (chondrodysplas) or (chondrodystophy NEC) or (hypochondroplas) or (osteopath striata) or (pseudochondroplas) or (dyschondroplas) | Hypochondroplasia | UMLS ID:C0014084 | (Multi enchondromata) or (enchondromat) or (Ollier dis) or (chondrodysplas) or (chondrodystophy NEC) or (hypochondroplas) or (osteopath striata) or (pseudochondroplas) or (dyschondroplas) (disorder) | Maffucci syndrome | Osteopathia striata | Chondrodysplasia | Multiple enchondromata | Cenani-Lenz syndactyly syndrome | SNOMEDCT ID:205469005 | Osteochondromatosis syndrome (disorder) | SNOMEDCT ID:16535008 | Congenital enchondromatosis | MONDO:0008145 | Pseudochondroplasia | Osteochondromatosis syndrome | ICD11 ID:2E83.Z +BMGC_DS00762,BMG_DS000979,Endarteritis | MONDO:0043576 | SNOMEDCT ID:33806008 | MeSH ID:D004692 | Endarteritis (disorder) | UMLS ID:C0014100 | endarteritis +BMGC_DS00763,BMG_DS000980,UMLS ID:C0014116 | atrioventricular septal defect | DOID:0050651 +BMGC_DS00764,BMG_DS000981,endocardial fibroelastosis | MONDO:0009169 | OMIM ID:226000 | DOID:12929 | UMLS ID:C0014117 | Endocardial Fibroelastosis | MeSH ID:D004695 +BMGC_DS00765,BMG_DS000982,Endocarditis (disorder) | DOID:10314 | UMLS ID:C0014118 | MONDO:0005025 | MeSH ID:D004696 | SNOMEDCT ID:56819008 | endocarditis | Endocarditis +BMGC_DS00766,BMG_DS000983,"Bacterial Endocarditis | bacterial endocarditis | MeSH ID:D004697 | Endocarditis, Bacterial | UMLS ID:C0014121 | MONDO:0006669" +BMGC_DS00767,BMG_DS000985,Endocervicitis (disorder) | MONDO:0003632 | Endocervicitis | Cervicitis &/or endocervicitis (disorder) | endocervicitis | DOID:5757 | Cervicitis | Cervicitis/endocervicitis | UMLS ID:C0014127 | SNOMEDCT ID:31354001 | SNOMEDCT ID:155980007 | Cervicitis &/or endocervicitis | SNOMEDCT ID:266654000 +BMGC_DS00768,BMG_DS000986,Endocrine System Diseases | MeSH ID:D004700 | endocrine system disorder | MONDO:0005151 | endocrine system disease | UMLS ID:C0014130 | DOID:28 +BMGC_DS00769,BMG_DS000987,MONDO:0002082 | endocrine gland cancer | UMLS ID:C0014132 | DOID:170 | endocrine gland neoplasm +BMGC_DS00770,BMG_DS000988,yolk sac tumor | endodermal sinus tumor | UMLS ID:C0014145 | DOID:1911 | MONDO:0005744 +BMGC_DS00771,BMG_DS000989,endometrium neoplasm | MONDO:0021251 | DOID:1380 | UMLS ID:C0014170 | endometrial cancer +BMGC_DS00772,BMG_DS000990,DOID:0080365 | MONDO:0041161 | obsolete endometrial hyperplasia | UMLS ID:C0014173 | Endometrial Hyperplasia | endometrial hyperplasia | MeSH ID:D004714 +BMGC_DS00773,BMG_DS000991,Endometriosis (& [adenomyosis]) | External endometriosis | Adenomyosis | endometriosis | SNOMEDCT ID:198246007 | MONDO:0005133 | Endometriosis (clinical) | SNOMEDCT ID:155988000 | SNOMEDCT ID:103677003 | Endometriosis (morphologic abnormality) | SNOMEDCT ID:11871002 | MeSH ID:D004715 | DOID:289 | SNOMEDCT ID:266588002 | Endometriosis | SNOMEDCT ID:396224008 | Endometriosis (disorder) | UMLS ID:C0014175 | SNOMEDCT ID:129103003 | OMIM ID:MTHU036719 | Endometriosis (& [adenomyosis]) (disorder) | ICD10 ID:N80 | Adenomyosis - uterine endomet. +BMGC_DS00774,BMG_DS000992,Endometriosis of fallopian tube | SNOMEDCT ID:22611009 | ICD11 ID:GA10.B3 | fallopian tube endometriosis | DOID:11424 | UMLS ID:C0014177 | Endometriosis of fallopian tube (disorder) | MONDO:0001282 | ICD10 ID:N80.2 +BMGC_DS00775,BMG_DS000993,"SNOMEDCT ID:78623009 | Endometritis, excluding cervix | Endometritis (disorder) | UMLS ID:C0014179 | SNOMEDCT ID:155975003 | SNOMEDCT ID:266652001 | Endometritis - excl. cervix | Endometritis (& [excluding cervix]) (disorder) | MONDO:0000918 | Endometritis | MeSH ID:D004716 | DOID:1002 | Endometritis (& [excluding cervix]) | endometritis" +BMGC_DS00776,BMG_DS000996,DOID:4692 | Endophthalmitis | MONDO:0016047 | endophthalmitis | MeSH ID:D009877 | UMLS ID:C0014236 | SNOMEDCT ID:1847009 | Endophthalmitis (disorder) +BMGC_DS00777,BMG_DS000997,Parasitic endophthalmitis (disorder) | SNOMEDCT ID:57100005 | Parasitic endophthalmitis | MONDO:0024315 | DOID:1398 | parasitic endophthalmitis | UMLS ID:C0014238 | parasitic infectious disease +BMGC_DS00778,BMG_DS000998,"Displacement of eyeball, unspecified | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) | ICD11 ID:9A20.Z | enophthalmos | DOID:11175 | ICD10 ID:H05.4 | Enophthalmia | UMLS ID:C0014306 | Enophthalmos (disorder) | Enophthalmos | OMIM ID:MTHU036831 | MeSH ID:D015841 | SNOMEDCT ID:80093006 | SNOMEDCT ID:155200004 | SNOMEDCT ID:267746003 | Disorders of the orbit | Exophthalmos | Orbit disorders | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) (disorder)" +BMGC_DS00779,BMG_DS000999,Entamoebiasis | UMLS ID:C0014324 | MeSH ID:D004749 +BMGC_DS00780,BMG_DS001001,"enteritis | SNOMEDCT ID:64613007 | Enteritis | UMLS ID:C0014335 | Enteritis, inflammatory disorder of small intestine | Inflammatory disorder of intestine (disorder) | MeSH ID:D004751 | Inflammation of small intestine | Inflammatory disorder of intestine | MONDO:0043579 | SNOMEDCT ID:126767009 | OMIM ID:MTHU033961 | Enteritis of small intestine | Inflammation of small intestine (disorder)" +BMGC_DS00781,BMG_DS001004,MeSH ID:D004756 | Enterobacteriaceae Infections | UMLS ID:C0014347 +BMGC_DS00782,BMG_DS001005,"UMLS ID:C0014356 | Inflammation of small intestine and colon | SNOMEDCT ID:43752006 | Gastroenteritis | OMIM ID:226150 | MeSH ID:D004760 | OMIM ID:MTHU017872 | Other non-infective inflammatory gastroenteritis and colitis | Enterocolitis | SNOMEDCT ID:197010007 | Enterocolitis, inflammation involving both small intestine and colon | (Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) | Inflammation of small intestine and colon (disorder) | MONDO:0009172 | (Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) (disorder) | enterocolitis" +BMGC_DS00783,BMG_DS001006,"UMLS ID:C0014358 | Enterocolitis, Pseudomembranous | Clostridium difficile colitis | MeSH ID:D004761 | DOID:0060185" +BMGC_DS00784,BMG_DS001009,Enterovirus Infections | MeSH ID:D004769 | enterovirus infectious disease | MONDO:0005747 | UMLS ID:C0014378 +BMGC_DS00785,BMG_DS001010,SNOMEDCT ID:246821008 | Eyelid turned in | Folded in eyelid | Eyelashes turned in | Entropion of eyelid (disorder) | Entropion of eyelid | Entropion (disorder) | entropion | SNOMEDCT ID:155177005 | MONDO:0001519 | DOID:12397 | MeSH ID:D004774 | OMIM ID:MTHU004143 | Eyelid inverted | Entropion | SNOMEDCT ID:33168009 | UMLS ID:C0014390 +BMGC_DS00786,BMG_DS001011,OMIM ID:MTHU037203 | Nocturnal enuresis | Nocturnal enuresis (finding) | Bedwetting | MONDO:0024290 | MeSH ID:D004775 | Enuresis | SNOMEDCT ID:68191002 | SNOMEDCT ID:8009008 | Enuresis (& [bedwetting]) (disorder) | Enuresis (& [bedwetting]) | UMLS ID:C0014394 | SNOMEDCT ID:139398002 | SNOMEDCT ID:268776008 | Nocturnal incontinence of urine | SNOMEDCT ID:162121000 | Enuresis (finding) | SNOMEDCT ID:154929003 | enuresis | Wets bed | Bed wetting +BMGC_DS00787,BMG_DS001013,"ICD11 ID:4B03.Z | ICD10 ID:D72.1 | MeSH ID:D004802 | hypereosinophilic syndrome | Decreased blood eosinophil number | Eosinophil count raised (finding) | Eosinophil count raised | Eosinophilic disorder | OMIM ID:MTHU004968 | Eosinophilic leukocytosis | Blood eosinophil number below reference range (finding) | SNOMEDCT ID:27955006 | DOID:999 | UMLS ID:C0014457 | Eosinophilic leucocytosis | Blood eosinophil number below reference range | SNOMEDCT ID:418928000 | SNOMEDCT ID:165524009 | Eosinophilia | Eosinophilia (disorder) | Eosinophilia, unspecified" +BMGC_DS00788,BMG_DS001014,"MeSH ID:D004802 | UMLS ID:C0014458 | Eosinophilia, Tropical | Eosinophilia" +BMGC_DS00789,BMG_DS001017,MONDO:0016698 | UMLS ID:C0014474 | benign ependymoma | ependymoma | DOID:4844 +BMGC_DS00790,BMG_DS001018,Eperythrozoonosis | Eperythrozoonosis (disorder) | UMLS ID:C0014476 | Mycoplasma Infections | SNOMEDCT ID:10865002 | MeSH ID:D009175 +BMGC_DS00791,BMG_DS001020,Tennis elbow - epicondylitis | SNOMEDCT ID:73583000 | (Epicondylitis &/or tennis elbow) or (golfers' elbow) | Golfer's elbow | epicondylitis | SNOMEDCT ID:268088003 | (Epicondylitis &/or tennis elbow) or (golfers' elbow) (disorder) | Epicondylitis (disorder) | MONDO:0001875 | Tennis elbow | Golfers' elbow | DOID:14087 | Epicondylitis | SNOMEDCT ID:156659008 | UMLS ID:C0014488 +BMGC_DS00792,BMG_DS001021,epidemic keratoconjunctivitis | EKC - epidemic keratoconjunctivitis | MONDO:0001615 | UMLS ID:C0014493 | DOID:13014 | Shipyard eye | Virus keratoconjunctivitis | ICD11 ID:1D84.0 | SNOMEDCT ID:60548004 | Conjunctivitis due to adenovirus | ICD10 ID:B30.0 | shipyard eye | Epidemic keratoconjunctivitis | Epidemic keratoconjunctivitis (disorder) +BMGC_DS00793,BMG_DS001024,Stevens-Johnson Syndrome | MeSH ID:D013262 | UMLS ID:C0014518 | toxic epidermal necrolysis | MONDO:0019810 | Toxic Epidermal Necrolysis +BMGC_DS00794,BMG_DS001026,MONDO:0009176 | UMLS ID:C0014522 | DOID:13777 | epidermodysplasia verruciformis +BMGC_DS00795,BMG_DS001027,epidermolysis bullosa | UMLS ID:C0014527 | DOID:2730 | MONDO:0006541 +BMGC_DS00796,BMG_DS001028,Tinea caused by Epidermophyton floccosum | Epidermophyton floccosum infection | Tinea | Epidermophytosis | SNOMEDCT ID:403065006 | UMLS ID:C0014531 | Tinea caused by Epidermophyton floccosum (disorder) | MeSH ID:D014005 +BMGC_DS00797,BMG_DS001029,SNOMEDCT ID:31070006 | SNOMEDCT ID:155914009 | epididymitis | UMLS ID:C0014534 | MONDO:0004779 | Epididymitis (disorder) | OMIM ID:MTHU038084 | Epididymitis | MeSH ID:D004823 | ICD10 ID:N45.1 | DOID:9402 +BMGC_DS00798,BMG_DS001030,UMLS ID:C0014536 | MONDO:0002713 | epidural spinal canal neoplasm | DOID:3618 +BMGC_DS00799,BMG_DS001031,OMIM ID:MTHU078414 | Epiglottitis (disorder) | SNOMEDCT ID:80384002 | DOID:9398 | Epiglottitis | MeSH ID:D004826 | epiglottitis | MONDO:0005753 | UMLS ID:C0014541 +BMGC_DS00800,BMG_DS001032,UMLS ID:C0014544 | Epilepsy | SNOMEDCT ID:267698007 | (Epilepsy) or (epileptic attack) (disorder) | epilepsy | MONDO:0005027 | OMIM ID:MTHU022799 | Epilepsy (disorder) | Epileptic attack | DOID:1826 | (Epilepsy) or (epileptic attack) | Attack - epileptic | SNOMEDCT ID:84757009 | MeSH ID:D004827 +BMGC_DS00801,BMG_DS001033,"MeSH ID:D004828 | MONDO:0005384 | focal epilepsy | UMLS ID:C0014547 | DOID:2234 | Epilepsies, Partial" +BMGC_DS00802,BMG_DS001034,"DOID:1827 | MONDO:0100574 | generalized epilepsy | idiopathic generalized epilepsy | UMLS ID:C0014548 | MeSH ID:D004829 | Epilepsy, Generalized" +BMGC_DS00803,BMG_DS001035,"Epilepsy, Tonic-Clonic | Tonic-Clonic Epilepsy | epilepsy with generalized tonic-clonic seizures | UMLS ID:C0014549 | MONDO:0005754 | MeSH ID:D004830 | DOID:7725" +BMGC_DS00804,BMG_DS001036,"Myoclonic Epilepsy | early myoclonic encephalopathy | Epilepsies, Myoclonic | DOID:308 | MeSH ID:D004831 | UMLS ID:C0014550" +BMGC_DS00805,BMG_DS001037,"MONDO:0850093 | absence epilepsy | UMLS ID:C0014553 | DOID:1825;DOID:0070309 | Absence Epilepsy | Epilepsy, Absence | childhood absence epilepsy | MeSH ID:D004832" +BMGC_DS00806,BMG_DS001038,"DOID:3328 | MONDO:0005115 | temporal lobe epilepsy | UMLS ID:C0014556 | MeSH ID:D004833 | Epilepsy, Temporal Lobe" +BMGC_DS00807,BMG_DS001040,"Epilepsy, Temporal Lobe | MeSH ID:D004833 | Uncinate Epilepsy | UMLS ID:C0014558" +BMGC_DS00808,BMG_DS001049,erysipelas | UMLS ID:C0014733 | Infection caused by Erysipelothrix insidiosa | Infection caused by Erysipelothrix rhusiopathiae | ICD10 ID:A46 | Erysipelas (disorder) | SNOMEDCT ID:154305002 | Erysipelas | MeSH ID:D004886 | Infection caused by Erysipelothrix rhusiopathiae (disorder) | MONDO:0001266 | SNOMEDCT ID:266005008 | Patch of erysipelas | SNOMEDCT ID:44653001 | OMIM ID:MTHU037335 | DOID:11330 +BMGC_DS00809,BMG_DS001053,Erythema Multiforme | MeSH ID:D004892 | MONDO:0006545 | erythema multiforme | DOID:0050185 | UMLS ID:C0014742 +BMGC_DS00810,BMG_DS001054,erythema nodosum | MONDO:0850231 | UMLS ID:C0014743 | Erythema Nodosum | MeSH ID:D004893 | DOID:0080750 +BMGC_DS00811,BMG_DS001056,Erythematosquamous dermatosis (disorder) | UMLS ID:C0014747 | DOID:9097 | MONDO:0006546 | Erythematosquamous dermatosis | erythematosquamous dermatosis | SNOMEDCT ID:54792008 | SNOMEDCT ID:200762004 +BMGC_DS00812,BMG_DS001057,UMLS ID:C0014752 | Actinomycosis | Cutaneous actinomycosis | SNOMEDCT ID:186393009 | erythrasma | (Actinomycosis (& [infections]) or (erythrasma) | ICD10 ID:L08.1 | SNOMEDCT ID:238418005 | ICD11 ID:1C44 | (Cutaneous actinomycosis) or (erythrasma) or (trichomycosis axillaris) | (Actinomycosis (& [infections]) or (erythrasma) (disorder) | DOID:4131 | Trichomycosis axillaris | (Cutaneous actinomycosis) or (erythrasma) or (trichomycosis axillaris) (disorder) | SNOMEDCT ID:200726000 | Actinomycotic infections | MeSH ID:D004894 | Nonpyogenic bacterial infections of the skin | Erythrasma | SNOMEDCT ID:111797001 | SNOMEDCT ID:266185008 | Erythrasma (disorder) | SNOMEDCT ID:154314007 | MONDO:0002885 +BMGC_DS00813,BMG_DS001058,"DOID:1098 | fetal erythroblastosis | UMLS ID:C0014761 | Erythroblastosis, Fetal | MeSH ID:D004899 | hemolytic disease of the fetus | MONDO:0006760" +BMGC_DS00814,BMG_DS001059,"Parapsoriasis | UMLS ID:C0014799 | MeSH ID:D010267 | Erythroderma, Maculopapular" +BMGC_DS00815,BMG_DS001061,SNOMEDCT ID:238777005 | erythromelalgia | Erythralgia | Weir Mitchell's disease | UMLS ID:C0014804 | MONDO:0016028 | Erythermalgia | ICD10 ID:I73.81 | Erythromelalgia (disorder) | MeSH ID:D004916 | DOID:9240 | Erythromelalgia | SNOMEDCT ID:37151006 +BMGC_DS00816,BMG_DS001062,OMIM ID:133020 | MONDO:0007571 | UMLS ID:C0014805 | MeSH ID:D004916 | Erythromelalgia | Primary Erythermalgia | primary erythermalgia +BMGC_DS00817,BMG_DS001065,UMLS ID:C0014836 | MeSH ID:D004927 | MONDO:0020920 | escherichia coli infection | Escherichia coli Infections +BMGC_DS00818,BMG_DS001066,achalasia | DOID:9164 | MONDO:0008698 | UMLS ID:C0014848 | Esophageal Achalasia | MeSH ID:D004931 +BMGC_DS00819,BMG_DS001067,esophageal atresia | MONDO:0001044 | UMLS ID:C0014850 | DOID:10485 +BMGC_DS00820,BMG_DS001068,Esophageal Diseases | MeSH ID:D004935 | esophageal disease | UMLS ID:C0014852 | DOID:6050 | MONDO:0003749 | esophageal disorder +BMGC_DS00821,BMG_DS001069,UMLS ID:C0014858 | MONDO:0004729 | dyskinesia of esophagus | DOID:9192 +BMGC_DS00822,BMG_DS001070,neoplasm of esophagus | MONDO:0021355 | esophageal cancer | DOID:5041 | UMLS ID:C0014859 +BMGC_DS00823,BMG_DS001072,MeSH ID:D004940 | Esophageal Stenosis | UMLS ID:C0014866 +BMGC_DS00824,BMG_DS001073,MONDO:0001221 | esophageal varices | Esophageal and Gastric Varices | Esophageal Varices | UMLS ID:C0014867 | MeSH ID:D004932 +BMGC_DS00825,BMG_DS001074,Oesophagitis | Reflux esophagitis | OMIM ID:MTHU018345 | esophagitis | Esophagitis (& [reflux]) or esophageal reflux | Gastro-esophageal reflux | DOID:11963 | Oesophageal reflux | SNOMEDCT ID:155673008 | Esophageal reflux | Esophagitis | ICD10 ID:K20 | Oesophagitis (& [reflux]) or oesophageal reflux (disorder) | UMLS ID:C0014868 | Oesophagitis (& [reflux]) or oesophageal reflux | Reflux oesophagitis | MONDO:0001409 | MeSH ID:D004941 | Gastro-oesophageal reflux | Esophagitis (disorder) | SNOMEDCT ID:16761005 | SNOMEDCT ID:266498005 +BMGC_DS00826,BMG_DS001075,"Esophagitis, Peptic | MONDO:0006896 | DOID:13976 | UMLS ID:C0014869 | peptic esophagitis | MeSH ID:D004942 | Peptic Esophagitis" +BMGC_DS00827,BMG_DS001076,Convergent squint | SNOMEDCT ID:16596007 | Esotropia (disorder) | esotropia | Esotropia | UMLS ID:C0014877 | MeSH ID:D004948 | ICD11 ID:9C80.0 | SNOMEDCT ID:155193001 | MONDO:0004896 | OMIM ID:MTHU036341 | ICD10 ID:H50.0 | Convergent strabismus | Cross-eye | DOID:9840 +BMGC_DS00828,BMG_DS001078,ethmoid sinusitis | MONDO:0005756 | UMLS ID:C0015029 | DOID:9507 | Ethmoid Sinusitis | MeSH ID:D015521 +BMGC_DS00829,BMG_DS001079,UMLS ID:C0015190 | Euthyroid Sick Syndromes | euthyroid sick syndrome | DOID:2856 | MONDO:0006755 | MeSH ID:D005067 +BMGC_DS00830,BMG_DS001080,MONDO:0006547 | UMLS ID:C0015230 | exanthem | DOID:0050486 +BMGC_DS00831,BMG_DS001081,DOID:0050495 | MONDO:0000337 | exanthema subitum | Exanthema Subitum | MeSH ID:D005077 | UMLS ID:C0015231 +BMGC_DS00832,BMG_DS001084,OMIM ID:MTHU005786 | UMLS ID:C0015300 | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) | SNOMEDCT ID:155200004 | Exophthalmia | Proptosis | MeSH ID:D005094 | SNOMEDCT ID:267746003 | Exophthalmos (disorder) | Eye displaced forwards | SNOMEDCT ID:18265008 | Enophthalmos | Disorders of the orbit | Exophthalmos | exophthalmos | Orbit disorders | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) (disorder) | MONDO:0004770 +BMGC_DS00833,BMG_DS001086,MONDO:0005508 | hereditary multiple osteochondromas | DOID:206 | UMLS ID:C0015306 | hereditary multiple exostoses +BMGC_DS00834,BMG_DS001087,SNOMEDCT ID:399054005 | Exotropia | Exotropia (disorder) | Divergent strabismus | DOID:1143 | UMLS ID:C0015310 | ICD10 ID:H50.1 | External strabismus | OMIM ID:MTHU036896 | exotropia | SNOMEDCT ID:155194007 | XT - Exotropia | Divergent squint | Divergent concomitant strabismus | MeSH ID:D005099 | ICD11 ID:9C80.1 | MONDO:0001286 | SNOMEDCT ID:75400001 +BMGC_DS00835,BMG_DS001089,Extrapyramidal Disorders | Basal Ganglia Diseases | MeSH ID:D001480 | UMLS ID:C0015371 +BMGC_DS00836,BMG_DS001090,Disorder of eye proper (disorder) | Disease of eyeball | eye disease | Eye disorder | DOID:5614 | Disorder of globe | Disorder of eye proper | Disease of eye | Disease of eye (disorder) | disorder of orbital region | SNOMEDCT ID:371405004 | Disorder of eyeball | MONDO:0002022 | SNOMEDCT ID:79517001 | UMLS ID:C0015397 | Disorder of eye +BMGC_DS00837,BMG_DS001091,"UMLS ID:C0015398 | Eye Diseases, Hereditary | MeSH ID:D015785" +BMGC_DS00838,BMG_DS001092,MONDO:0043885 | Eye Infections | eye infectious disorder | UMLS ID:C0015403 | MeSH ID:D015817 | Eye Infection +BMGC_DS00839,BMG_DS001093,"UMLS ID:C0015404 | Eye Infections, Bacterial | MeSH ID:D015818" +BMGC_DS00840,BMG_DS001094,fungal infection of eye | UMLS ID:C0015405 | MONDO:0020944 +BMGC_DS00841,BMG_DS001096,"UMLS ID:C0015407 | MeSH ID:D015828 | Eye Infections, Viral | viral eye infection | MONDO:0020950" +BMGC_DS00842,BMG_DS001097,eye neoplasm | DOID:2174 | UMLS ID:C0015414 | MONDO:0021220 | ocular cancer +BMGC_DS00843,BMG_DS001098,eyelid disorder | UMLS ID:C0015423 | DOID:530 | MONDO:0003382 | eyelid disease | Eyelid Diseases | MeSH ID:D005141 +BMGC_DS00844,BMG_DS001099,eyelid neoplasm | UMLS ID:C0015424 | DOID:2173 | MONDO:0002235 | eyelid benign neoplasm +BMGC_DS00845,BMG_DS001100,facial dermatosis | DOID:3134 | Facial Dermatoses | UMLS ID:C0015456 | MeSH ID:D005148 | MONDO:0006548 +BMGC_DS00846,BMG_DS001101,Facial Hemiatrophy | DOID:1757 | OMIM ID:141300 | facial hemiatrophy | MONDO:0007710 | UMLS ID:C0015458 | MeSH ID:D005150 +BMGC_DS00847,BMG_DS001102,facial nerve disorder | facial nerve disease | Facial Nerve Diseases | MeSH ID:D005155 | DOID:1756 | UMLS ID:C0015464 | MONDO:0002098 +BMGC_DS00848,BMG_DS001103,UMLS ID:C0015467 | DOID:13865 | MONDO:0001818 | facial neuralgia | MeSH ID:D005156 | Facial Neuralgia +BMGC_DS00849,BMG_DS001104,facial paralysis | Facial paralysis | DOID:13934 | UMLS ID:C0015469 | MONDO:0001835 | OMIM ID:MTHU037394 +BMGC_DS00850,BMG_DS001106,UMLS ID:C0015481 | factitious disorder | DOID:1766 +BMGC_DS00851,BMG_DS001107,factor V deficiency | DOID:2216 | congenital factor V deficiency | OMIM ID:227400 | MONDO:0009210 | UMLS ID:C0015499 +BMGC_DS00852,BMG_DS001108,Factor VII Deficiency | MONDO:0002244 | MeSH ID:D005168 | DOID:2215 | UMLS ID:C0015503 | factor VII deficiency +BMGC_DS00853,BMG_DS001109,MONDO:0002247 | UMLS ID:C0015519 | DOID:2222 | Factor X Deficiency | factor X deficiency | MeSH ID:D005171 +BMGC_DS00854,BMG_DS001110,factor XI deficiency | OMIM ID:612416 | DOID:2229 | congenital factor XI deficiency | UMLS ID:C0015523 | MONDO:0012897 +BMGC_DS00855,BMG_DS001111,factor XII deficiency | MONDO:0009315 | congenital factor XII deficiency | DOID:2231 | UMLS ID:C0015526 | MeSH ID:D005175 | Factor XII Deficiency | OMIM ID:234000 +BMGC_DS00856,BMG_DS001112,congenital factor XIII deficiency | UMLS ID:C0015530 | factor XIII deficiency | MONDO:0018029 | DOID:2211 +BMGC_DS00857,BMG_DS001113,OMIM ID:MTHU076871 | MeSH ID:D005183 | Failure to Thrive | UMLS ID:C0015544 +BMGC_DS00858,BMG_DS001114,MeSH ID:D005184 | fallopian tube disorder | Fallopian Tube Diseases | fallopian tube disease | DOID:1962 | MONDO:0002156 | UMLS ID:C0015556 +BMGC_DS00859,BMG_DS001115,fallopian tube cancer | UMLS ID:C0015558 | DOID:1964 | MONDO:0021092 | fallopian tube neoplasm +BMGC_DS00860,BMG_DS001116,Fanconi Syndrome | DOID:1062 | Fanconi renotubular syndrome | Fanconi syndrome | MeSH ID:D005198 | UMLS ID:C0015624 | MONDO:0001083 +BMGC_DS00861,BMG_DS001117,Fanconi anemia | MeSH ID:D005199 | MONDO:0019391 | Fanconi Anemia | DOID:13636 | UMLS ID:C0015625 +BMGC_DS00862,BMG_DS001119,DOID:14453 | farmer's lung disease | MeSH ID:D005203 | MONDO:0001971 | Farmer's Lung | farmer's lung | UMLS ID:C0015634 +BMGC_DS00863,BMG_DS001120,UMLS ID:C0015643 | Bundle-Branch Block | MeSH ID:D002037 | Fascicular Block +BMGC_DS00864,BMG_DS001121,SNOMEDCT ID:36948007 | DOID:9598 | Fasciitis (disorder) | Fasciitis | UMLS ID:C0015645 | MeSH ID:D005208 | fasciitis | MONDO:0004830 +BMGC_DS00865,BMG_DS001122,DOID:885 | fascioliasis | Infection caused by Fasciola (disorder) | Fascioliasis | (Fascioliasis) or (liver fluke: [sheep infection] or [NOS]) | Infection caused by Fasciola | ICD10 ID:B66.3 | Infection by Fasciola | UMLS ID:C0015652 | SNOMEDCT ID:111922007 | Sheep liver fluke infection | (Fascioliasis) or (liver fluke: [sheep infection] or [NOS]) (disorder) | MeSH ID:D005211 | MONDO:0004668 | ICD11 ID:1F82 | SNOMEDCT ID:187125007 | Liver flukes NOS +BMGC_DS00866,BMG_DS001123,MeSH ID:D005213 | MONDO:0005759 | DOID:1217 | Fascioloidiasis | UMLS ID:C0015655 | fascioloidiasis +BMGC_DS00867,BMG_DS001124,Giant intestinal fluke infection | Fasciolopsiasis | ICD10 ID:B66.5 | DOID:888 | Infection by Fasciolopsis buski | Intestinal distomiasis | Trematode Infections | ICD11 ID:1F83 | fasciolopsiasis | Fasciolopsiosis | UMLS ID:C0015656 | Infection caused by Fasciolopsis buski | MeSH ID:D014201 | Infection caused by Fasciolopsis buski (disorder) | MONDO:0004672 | SNOMEDCT ID:54266002 +BMGC_DS00868,BMG_DS001125,"Fatigue Syndrome, Chronic | MONDO:0005404 | chronic fatigue syndrome | myalgic encephalomeyelitis/chronic fatigue syndrome | MeSH ID:D015673 | UMLS ID:C0015674 | Chronic Fatigue Syndrome | DOID:8544" +BMGC_DS00869,BMG_DS001126,DOID:9452 | Fatty Liver | steatotic liver disease | UMLS ID:C0015695 | MeSH ID:D005234 +BMGC_DS00870,BMG_DS001127,"UMLS ID:C0015696 | DOID:9452 | Fatty Liver, Alcoholic | steatotic liver disease | MeSH ID:D005235 | alcoholic fatty liver disease | MONDO:0021104" +BMGC_DS00871,BMG_DS001128,(Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism) | ICD11 ID:3A10.00 | Favism | MONDO:0001761 | SNOMEDCT ID:154801000 | SNOMEDCT ID:267558001 | favism | Other hered. hem. anemias | MeSH ID:D005236 | Hereditary stomatocytosis | Vicia faba poisoning (disorder) | SNOMEDCT ID:191172001 | Hereditary elliptocytosis | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other hemalytic anemias]) or (favism) | Other hered. haem. anaemias | Favism (disorder) | UMLS ID:C0015702 | ICD10 ID:D55.0 | Haemolytic anaemia due to glucose6phosphate dehydrogenase deficiency | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism) (disorder) | DOID:13628 | SNOMEDCT ID:76500009 | Vicia faba poisoning +BMGC_DS00872,BMG_DS001129,UMLS ID:C0015704 | Facial Dermatoses | Favre-Racouchot Syndrome | MeSH ID:D005148 +BMGC_DS00873,BMG_DS001130,UMLS ID:C0015708 | OMIM ID:211500 | progressive bulbar palsy of childhood | MONDO:0100428 +BMGC_DS00874,BMG_DS001131,UMLS ID:C0015732 | MeSH ID:D005242 | Fecal Incontinence +BMGC_DS00875,BMG_DS001133,Felty Syndrome | DOID:11042 | UMLS ID:C0015773 | Felty syndrome | MeSH ID:D005258 | OMIM ID:134750 | Felty's syndrome | MONDO:0007603 +BMGC_DS00876,BMG_DS001134,UMLS ID:C0015807 | MONDO:0021579 | neoplasm of femur | DOID:5546 | femoral cancer +BMGC_DS00877,BMG_DS001135,Femur Head Necrosis | MeSH ID:D005271 | UMLS ID:C0015814 +BMGC_DS00878,BMG_DS001136,MeSH ID:D063647 | Fetal Alcohol Syndrome | fetal alcohol syndrome | MONDO:0016011 | UMLS ID:C0015923 | Fetal Alcohol Spectrum Disorders +BMGC_DS00879,BMG_DS001137,UMLS ID:C0015929 | MeSH ID:D005315 | Fetal Diseases +BMGC_DS00880,BMG_DS001139,MONDO:0005030 | fetal growth restriction | UMLS ID:C0015934 +BMGC_DS00881,BMG_DS001140,Fetal Resorption | UMLS ID:C0015951 | MeSH ID:D005327 +BMGC_DS00882,BMG_DS001141,UMLS ID:C0015957 | fetishistic disorder | DOID:1235 | MONDO:0001504 | fetishism +BMGC_DS00883,BMG_DS001144,MeSH ID:D005348 | UMLS ID:C0016034 | Fibrocystic Breast Disease | Breast Fibrocystic Disease | MONDO:0005219 | breast fibrocystic disease | DOID:10354 +BMGC_DS00884,BMG_DS001145,UMLS ID:C0016037 | DOID:13374 | Myositis Ossificans | OMIM ID:135100 | MeSH ID:D009221 | Fibrodysplasia Ossificans Progressiva | MONDO:0007606 | fibrodysplasia ossificans progressiva +BMGC_DS00885,BMG_DS001147,MONDO:0005167 | fibroma | UMLS ID:C0016045 +BMGC_DS00886,BMG_DS001148,fibromatosis | MONDO:0005031 | UMLS ID:C0016048 +BMGC_DS00887,BMG_DS001149,Fibromuscular Dysplasia | OMIM ID:135580 | fibromuscular dysplasia | UMLS ID:C0016052 | MONDO:0006761 | MeSH ID:D005352 +BMGC_DS00888,BMG_DS001150,OMIM ID:MTHU038078 | Chronic widespread pain | ICD11 ID:MG30.01 | SNOMEDCT ID:24693007 | SNOMEDCT ID:247365004 | UMLS ID:C0016053 | ICD10 ID:M79.7 | Fibromyositis | Fibromyositis (disorder) | DOID:631 | fibromyalgia | SNOMEDCT ID:203082005 | MeSH ID:D005356 | SNOMEDCT ID:1304004 | MONDO:0005546 | SNOMEDCT ID:203138004 | Fibromyalgia (disorder) | Fibromyalgia (finding) | Fibromyalgia | SNOMEDCT ID:156727006 +BMGC_DS00889,BMG_DS001151,fibrosarcoma | DOID:3355 | MONDO:0005164 | UMLS ID:C0016057 +BMGC_DS00890,BMG_DS001152,"MONDO:0019665 | monostotic fibrous dysplasia | Fibrous Dysplasia, Monostotic | UMLS ID:C0016064 | MeSH ID:D005358" +BMGC_DS00891,BMG_DS001153,polyostotic fibrous dysplasia | McCune Albright syndrome | UMLS ID:C0016065 | MONDO:0008274 | DOID:1858 +BMGC_DS00892,BMG_DS001154,SNOMEDCT ID:105706003 | DOID:1080 | filariasis | MeSH ID:D005368 | ICD10 ID:B74 | SNOMEDCT ID:50342004 | Filariosis | Filariasis | MONDO:0016075 | Disease caused by Filarioidea (disorder) | Filariasis (disorder) | Disease caused by Filarioidea | UMLS ID:C0016085 +BMGC_DS00893,BMG_DS001156,pyromania | MONDO:0001522 | DOID:12402 | UMLS ID:C0016142 +BMGC_DS00894,BMG_DS001157,fish disease | UMLS ID:C0016154 | MONDO:0024934 | Fish Diseases | MeSH ID:D005393 +BMGC_DS00895,BMG_DS001158,MeSH ID:D005401 | Anal Fissure | UMLS ID:C0016167 | Fissure in Ano +BMGC_DS00896,BMG_DS001159,UMLS ID:C0016202 | flatfoot | MONDO:0005293 +BMGC_DS00897,BMG_DS001160,DOID:2120 | MeSH ID:D005489 | focal dermal hypoplasia | MONDO:0010592 | Focal Dermal Hypoplasia | OMIM ID:305600 | UMLS ID:C0016395 +BMGC_DS00898,BMG_DS001162,"DOID:3327 | Epilepsy, Partial, Motor | partial motor epilepsy | UMLS ID:C0016399 | MeSH ID:D020938 | MONDO:0006891" +BMGC_DS00899,BMG_DS001163,Folic Acid Deficiency | UMLS ID:C0016412 | MeSH ID:D005494 +BMGC_DS00900,BMG_DS001165,SNOMEDCT ID:201177005 | SNOMEDCT ID:267863007 | Seborrhoea capitis | MONDO:0006552 | Seborrhea capitis | (Folliculitis) or (seborrhoea capitis) (disorder) | folliculitis | OMIM ID:MTHU024866 | Folliculitis | MeSH ID:D005499 | (Folliculitis) or (seborrhoea capitis) | DOID:4409 | Folliculitis (disorder) | (Folliculitis) or (seborrhea capitis) | UMLS ID:C0016436 | SNOMEDCT ID:13600006 | SNOMEDCT ID:156411003 +BMGC_DS00901,BMG_DS001166,DOID:3044 | UMLS ID:C0016470 | Food Hypersensitivity | MeSH ID:D005512 | food allergy | Food Allergy +BMGC_DS00902,BMG_DS001167,MeSH ID:D005533 | UMLS ID:C0016509 | Foot Dermatoses +BMGC_DS00903,BMG_DS001168,MONDO:0044989 | UMLS ID:C0016510 | MeSH ID:D005534 | obsolete foot disorder | Foot Diseases +BMGC_DS00904,BMG_DS001171,"MeSH ID:D054092 | Foramen Ovale, Patent | MONDO:0020439 | patent foramen ovale | DOID:13620 | UMLS ID:C0016522" +BMGC_DS00905,BMG_DS001173,MONDO:0018695 | MeSH ID:D005585 | Influenza in Birds | avian influenza | UMLS ID:C0016627 | DOID:4492 +BMGC_DS00906,BMG_DS001175,Fox Fordyce disease (disorder) | MONDO:0006553 | SNOMEDCT ID:65038009 | Apocrine miliaria (disorder) | UMLS ID:C0016632 | Apocrine miliaria | DOID:1381 | Fox Fordyce disease | Fox-Fordyce disease | SNOMEDCT ID:254682006 +BMGC_DS00907,BMG_DS001176,Fragile X Syndrome | MeSH ID:D005600 | DOID:14261 | fragile X syndrome | OMIM ID:300624 | MONDO:0010383 | UMLS ID:C0016667 +BMGC_DS00908,BMG_DS001178,UMLS ID:C0016697 | MeSH ID:D005611 | MONDO:0006762 | Freemartinism | DOID:4671 | freemartinism +BMGC_DS00909,BMG_DS001179,Friedreich ataxia | DOID:12705 | MONDO:0100339 | MeSH ID:D005621 | UMLS ID:C0016719 | Friedreich Ataxia +BMGC_DS00910,BMG_DS001180,Hypothalamic Diseases | UMLS ID:C0016724 | Froehlich's Syndrome | MeSH ID:D007027 | MONDO:0003962 | Froelich syndrome | DOID:6676 +BMGC_DS00911,BMG_DS001181,frontal sinusitis | MeSH ID:D015522 | MONDO:0001121 | UMLS ID:C0016735 | Frontal Sinusitis | DOID:10791 +BMGC_DS00912,BMG_DS001182,hereditary fructose intolerance | OMIM ID:229600 | hereditary fructose intolerance syndrome | DOID:9869 | UMLS ID:C0016751 | MONDO:0009249 +BMGC_DS00913,BMG_DS001184,"MeSH ID:D015319 | DOID:5204 | UMLS ID:C0016756 | OMIM ID:229700 | fructose-1,6-bisphosphatase deficiency | MONDO:0009251 | Fructose-1,6-Diphosphatase Deficiency" +BMGC_DS00914,BMG_DS001185,MONDO:0005321 | UMLS ID:C0016781 | Fuchs' Endothelial Dystrophy | DOID:11555 | Fuchs' endothelial dystrophy | MeSH ID:D005642 | Fuchs Endothelial Dystrophy +BMGC_DS00915,BMG_DS001186,UMLS ID:C0016782 | Fuchs' heterochromic cyclitis | Fuchs' heterochromic cyclitis (disorder) | DOID:9375 | ICD10 ID:H20.81 | MONDO:0016989 | Fuchs heterochromic iridocyclitis | Fuchs' heterochromic uveitis | Fuchs' heterochromic iridocyclitis | SNOMEDCT ID:11226001 | Fuchs uveitis syndrome +BMGC_DS00916,BMG_DS001187,UMLS ID:C0016788 | DOID:14500 | fucosidosis | MeSH ID:D005645 | MONDO:0009254 | Fucosidosis | OMIM ID:230000 | Fucosidase Deficiency Disease +BMGC_DS00917,BMG_DS001188,Functional disorder of intestine | bowel dysfunction | UMLS ID:C0016807 | Functional disorder of intestine (disorder) | SNOMEDCT ID:81120009 | DOID:9779 +BMGC_DS00918,BMG_DS001190,furunculosis | Furunculosis (morphologic abnormality) | MONDO:0025419 | UMLS ID:C0016867 | OMIM ID:MTHU076074 | SNOMEDCT ID:112650006 | MeSH ID:D005667 | Furunculosis +BMGC_DS00919,BMG_DS001191,"MONDO:0010103 | teeth, fused | UMLS ID:C0016873 | OMIM ID:273000" +BMGC_DS00920,BMG_DS001193,UMLS ID:C0016952 | MeSH ID:D005693 | Galactosemias | galactosemia | MONDO:0018116 | DOID:9870 +BMGC_DS00921,BMG_DS001194,UMLS ID:C0016977 | DOID:0060262 | MONDO:0005281 | Gall Bladder Diseases | gallbladder disease | gallbladder disorder | MeSH ID:D005705 | Gallbladder Diseases +BMGC_DS00922,BMG_DS001195,gallbladder neoplasm | DOID:3121 | gallbladder cancer | MONDO:0021253 | UMLS ID:C0016978 +BMGC_DS00923,BMG_DS001197,Gangliosidoses | gangliosidosis | DOID:2368 | MONDO:0017719 | UMLS ID:C0017083 | MeSH ID:D005733 +BMGC_DS00924,BMG_DS001198,SNOMEDCT ID:36024000 | OMIM ID:MTHU037861 | Gangrene (disorder) | Gangrenous disorder (disorder) | SNOMEDCT ID:372070002 | Gangrenous | Gangrenous disorder | SNOMEDCT ID:263765007 | Gangrene | MeSH ID:D005734 | UMLS ID:C0017086 | Gangrene (morphologic abnormality) +BMGC_DS00925,BMG_DS001199,MONDO:0019336 | Gardner syndrome | UMLS ID:C0017097 | MeSH ID:D005736 | Gardner Syndrome +BMGC_DS00926,BMG_DS001201,Gastric Varix | UMLS ID:C0017145 | MeSH ID:D004932 | Esophageal and Gastric Varices +BMGC_DS00927,BMG_DS001202,MONDO:0003523 | DOID:5577 | UMLS ID:C0017150 | gastrinoma | gastrin-producing neuroendocrine tumor +BMGC_DS00928,BMG_DS001203,Gastritis &/or duodenitis | Gastric catarrh | Gastritis | SNOMEDCT ID:4556007 | Gastritis &/or duodenitis (disorder) | MONDO:0004966 | DOID:4029 | OMIM ID:MTHU062400 | SNOMEDCT ID:266503008 | MeSH ID:D005756 | UMLS ID:C0017152 | SNOMEDCT ID:235653009 | Gastritis and duodenitis | gastritis | Gastritis (disorder) | SNOMEDCT ID:155711008 +BMGC_DS00929,BMG_DS001204,"MONDO:0006665 | Gastritis, Atrophic | atrophic gastritis | chronic atrophic gastritis | MeSH ID:D005757 | UMLS ID:C0017154 | DOID:8929" +BMGC_DS00930,BMG_DS001205,"MONDO:0007652 | Gastritis, Hypertrophic | gastric mucosal hypertrophy | UMLS ID:C0017155 | OMIM ID:137280 | DOID:8757 | MeSH ID:D005758" +BMGC_DS00931,BMG_DS001206,"Vomiting - viral | DOID:2326 | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhoea infection]) or (gastric flu) | OMIM ID:MTHU035020 | MONDO:0002269 | (Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) | Inflammation of stomach and intestine | Gastric flu | GE - Gastroenteritis | Diarrhea&vomiting, infection | Diarrhea+vomiting,infection | SNOMEDCT ID:154278002 | Other non-infective inflammatory gastroenteritis and colitis | Enterocolitis | (Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) (disorder) | gastroenteritis | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhoea infection]) or (gastric flu) (disorder) | Gastroenteropathy | Gastric 'flu | Gastroenteritis | UMLS ID:C0017160 | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhea infection]) or (gastric flu) | Diarrhoea+vomiting,infection | SNOMEDCT ID:266179001 | Inflammation of stomach and intestine (disorder) | MeSH ID:D005759 | Viral vomiting | Diarrhoea&vomiting, infection | SNOMEDCT ID:197010007 | SNOMEDCT ID:25374005 | Gastroenteritis - viral + NOS" +BMGC_DS00932,BMG_DS001207,"MONDO:0025420 | UMLS ID:C0017162 | gastroenteritis, transmissible, of swine | MeSH ID:D005761 | Gastroenteritis, Transmissible, of Swine" +BMGC_DS00933,BMG_DS001208,OMIM ID:MTHU001906 | UMLS ID:C0017168 | DOID:8534 | GOR - Gastro-esophageal reflux | Gastro-esophageal reflux | GOR - Gastro-oesophageal reflux | GORD - Gastro-esophageal reflux disease | OMIM ID:109350 | gastroesophageal reflux disease | SNOMEDCT ID:235595009 | Gastrooesophageal reflux disease | GERD - Gastro-esophageal reflux disease | Gastro-oesophageal reflux disease | MONDO:0007186 | GORD - Gastro-oesophageal reflux disease | Gastroesophageal reflux disease | Gastresophageal reflux disease | Gastro-esophageal reflux disease | SNOMEDCT ID:54856001 | Gastro-oesophageal reflux | Gastroesophageal reflux disease (disorder) +BMGC_DS00934,BMG_DS001209,MeSH ID:D005767 | Gastrointestinal Diseases | UMLS ID:C0017178 +BMGC_DS00935,BMG_DS001210,DOID:3119 | gastrointestinal system cancer | UMLS ID:C0017185 +BMGC_DS00936,BMG_DS001211,Gaucher disease | UMLS ID:C0017205 | Gaucher's disease | DOID:1926 | MONDO:0018150 | Gaucher Disease | MeSH ID:D005776 +BMGC_DS00937,BMG_DS001212,UMLS ID:C0017327 | generalized atherosclerosis | ICD10 ID:I70.91 | MONDO:0002275 | Generalised atherosclerosis | DOID:2347 | SNOMEDCT ID:367108003 | Arteriopathy | SNOMEDCT ID:39823006 | Generalized atherosclerosis | Arteriopath | Generalized atherosclerosis (disorder) | Generalised atherosclerosis (disorder) +BMGC_DS00938,BMG_DS001213,"UMLS ID:C0017332 | Epilepsy, Generalized | Generalized Nonconvulsive Seizure Disorder | MeSH ID:D004829" +BMGC_DS00939,BMG_DS001215,Facial Nerve Diseases | MeSH ID:D005155 | Geniculate Ganglionitis | MONDO:0001873 | DOID:14075 | UMLS ID:C0017407 | geniculate ganglionitis +BMGC_DS00940,BMG_DS001216,geniculate herpes zoster | UMLS ID:C0017409 | herpes zoster oticus | MONDO:0005769 | Herpes Zoster Oticus | MeSH ID:D016697 | DOID:9210 +BMGC_DS00941,BMG_DS001217,"MeSH ID:D005831 | Female Genital Diseases | DOID:229 | Genital Diseases, Female | UMLS ID:C0017411 | female reproductive system disease" +BMGC_DS00942,BMG_DS001218,"MeSH ID:D005832 | UMLS ID:C0017412 | Genital Diseases, Male | male reproductive system disease | DOID:48" +BMGC_DS00943,BMG_DS001219,UMLS ID:C0017416 | female reproductive system neoplasm | MONDO:0021148 | DOID:120 | female reproductive organ cancer +BMGC_DS00944,BMG_DS001220,male reproductive system neoplasm | MONDO:0024582 | DOID:3856 | UMLS ID:C0017417 | male reproductive organ cancer +BMGC_DS00945,BMG_DS001221,UMLS ID:C0017418 | Primary genital syphilis (disorder) | SNOMEDCT ID:186847001 | SNOMEDCT ID:58433006 | Genital chancre | ICD11 ID:1A61.0 | ICD10 ID:A51.0 | Primary genital syphilis +BMGC_DS00946,BMG_DS001222,MeSH ID:D005847 | SNOMEDCT ID:187105008 | Geotrichosis | Geotrichosis (disorder) | ICD10 ID:B48.3 | SNOMEDCT ID:13969006 | Infection by Geotrichum | Other specified mycoses | UMLS ID:C0017455 | geotrichosis | MONDO:0005772 | DOID:2832 | ICD11 ID:1F2Y +BMGC_DS00947,BMG_DS001223,DOID:4969 | UMLS ID:C0017494 | Gerstmann syndrome | MONDO:0005773 +BMGC_DS00948,BMG_DS001224,UMLS ID:C0017495 | DOID:4249 | Gerstmann-Straussler-Scheinker syndrome | Gerstmann-Straussler-Scheinker Disease | MONDO:0007656 | MeSH ID:D016098 | OMIM ID:137440 +BMGC_DS00949,BMG_DS001225,benign giant cell tumor | MONDO:0002171 | giant cell tumor | UMLS ID:C0017525 | DOID:200 +BMGC_DS00950,BMG_DS001226,SNOMEDCT ID:207036003 | UMLS ID:C0017531 | SNOMEDCT ID:69484003 | Angiofollicular lymph node hyperplasia (disorder) | Angiolymphoid hyperplasia | Giant lymph node hyperplasia | DOID:0111157 | Angiofollicular lymph node hyperplasia | Castleman's disease (disorder) | MONDO:0015564 | Castleman disease | Benign angiofollicular hyperplasia | Angiomatous lymphoid hamartoma | Castleman's disease +BMGC_DS00951,BMG_DS001227,Lambliasis | Giardiosis | Giardial colitis | SNOMEDCT ID:266176008 | Giardiasis (disorder) | DOID:10718 | Giardiasis | SNOMEDCT ID:266075009 | Giardiasis (& [colitis]) | Giardiasis (& [colitis]) (disorder) | MeSH ID:D005873 | SNOMEDCT ID:58265007 | Colitis - giardial | UMLS ID:C0017536 | giardiasis | MONDO:0001103 +BMGC_DS00952,BMG_DS001228,"SNOMEDCT ID:267480001 | Gigantism and acromegaly | Gigantism (disorder) | MONDO:0020479 | Acromegaly and gigantism | MeSH ID:D005877 | SNOMEDCT ID:80849007 | Giantism | pituitary gigantism | Normal giant | Anterior pituitary hyperfunction | Gigantism | Primordial giant | Genetic giant | Acromegaly | SNOMEDCT ID:154698000 | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) (disorder) | UMLS ID:C0017547 | Pituitary hyperfunction (ant.) | Giant | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.)" +BMGC_DS00953,BMG_DS001229,MONDO:0007745 | OMIM ID:143500 | Gilbert Disease | Gilbert syndrome | DOID:2739 | UMLS ID:C0017551 | MeSH ID:D005878 +BMGC_DS00954,BMG_DS001230,Gingival Diseases | UMLS ID:C0017563 | gingival disease | MONDO:0002021 | DOID:1483 | gingival disorder | MeSH ID:D005882 +BMGC_DS00955,BMG_DS001231,MeSH ID:D005886 | Gingival Hypertrophy | MONDO:0003397 | DOID:5338 | gingival hypertrophy | UMLS ID:C0017567 +BMGC_DS00956,BMG_DS001233,DOID:1134 | UMLS ID:C0017572 | gingival recession | MONDO:0001268 +BMGC_DS00957,BMG_DS001234,gingivitis | Gingivitis | SNOMEDCT ID:66383009 | Gingivitis (disorder) | DOID:3087 | UMLS ID:C0017574 | Chronic gingivitis | Gingivitis (& [chronic]) | MONDO:0002508 | MeSH ID:D005891 | Gingivitis (& [chronic]) (disorder) | OMIM ID:MTHU007445 | SNOMEDCT ID:196355002 +BMGC_DS00958,BMG_DS001235,necrotizing ulcerative gingivitis | MONDO:0006865 | DOID:13924 | UMLS ID:C0017575 +BMGC_DS00959,BMG_DS001238,DOID:1686 | SNOMEDCT ID:23986001 | UMLS ID:C0017601 | ICD10 ID:H40 | OMIM ID:MTHU004639 | SNOMEDCT ID:155120009 | Glaucoma | SNOMEDCT ID:194631001 | glaucoma | MeSH ID:D005901 | Glaucoma (disorder) | MONDO:0005041 +BMGC_DS00960,BMG_DS001239,"DOID:13550 | Glaucoma, Angle-Closure | Angle Closure Glaucoma | MeSH ID:D015812 | UMLS ID:C0017605 | MONDO:0001744 | angle-closure glaucoma" +BMGC_DS00961,BMG_DS001240,"Primary angle-closure glaucoma | primary angle-closure glaucoma | ICD10 ID:H40.2 | Closed angle glaucoma | DOID:1405 | ICD11 ID:9C61.1Z | MONDO:0001868 | Closed-angle glaucoma | Primary angle-closure glaucoma (disorder) | Glaucoma: [primary angle-closure] or [closed angle] (disorder) | SNOMEDCT ID:155123006 | SNOMEDCT ID:270882001 | Primary angle closure and angle closure glaucoma, unspecified | SNOMEDCT ID:392288006 | Glaucoma: [primary angle-closure] or [closed angle] | SNOMEDCT ID:193544008 | UMLS ID:C0017606 | SNOMEDCT ID:42456004 | ACG - Angle-closure glaucoma | Angle-closure glaucoma" +BMGC_DS00962,BMG_DS001241,"MeSH ID:D015355 | neovascular glaucoma | MONDO:0019783 | Glaucoma, Neovascular | DOID:1687 | UMLS ID:C0017609" +BMGC_DS00963,BMG_DS001242,"MeSH ID:D005902 | MONDO:0005338 | open-angle glaucoma | Glaucoma, Open-Angle | DOID:1067 | UMLS ID:C0017612" +BMGC_DS00964,BMG_DS001243,"MeSH ID:D009798 | Ocular Hypertension | Glaucoma, Suspect | UMLS ID:C0017614" +BMGC_DS00965,BMG_DS001244,glioblastoma | DOID:3068 | MONDO:0018177 | UMLS ID:C0017636 +BMGC_DS00966,BMG_DS001245,MONDO:0021042 | UMLS ID:C0017638 | high grade glioma | glioma | DOID:3070 +BMGC_DS00967,BMG_DS001246,MONDO:0018327 | DOID:2431 | UMLS ID:C0017653 | glomus tumor +BMGC_DS00968,BMG_DS001248,ICD10 ID:N08 | OMIM ID:MTHU036986 | MeSH ID:D005921 | Glomerulonephritis (disorder) | MONDO:0002462 | DOID:2921 | glomerulonephritis | SNOMEDCT ID:36171008 | GN - Glomerulonephritis | UMLS ID:C0017658 | Glomerulonephritis +BMGC_DS00969,BMG_DS001249,"MONDO:0005342 | UMLS ID:C0017661 | IGA Glomerulonephritis | MeSH ID:D005922 | IgA glomerulonephritis | Glomerulonephritis, IGA | DOID:2986" +BMGC_DS00970,BMG_DS001250,"UMLS ID:C0017662 | MONDO:0002461 | Glomerulonephritis, Membranoproliferative | MeSH ID:D015432 | DOID:2920 | membranoproliferative glomerulonephritis" +BMGC_DS00971,BMG_DS001251,"Membranous glomerulonephritis (disorder) | DOID:10976 | Membranous glomerulonephritis | SNOMEDCT ID:77182004 | OMIM ID:MTHU069736 | SNOMEDCT ID:197710000 | Chronic nephritic syndrome, diffuse membranous glomerulonephritis | membranous glomerulonephritis | MONDO:0005376 | MGN - Membranous glomerulonephritis | UMLS ID:C0017665" +BMGC_DS00972,BMG_DS001252,OMIM ID:MTHU023216 | UMLS ID:C0017668 | Focal glomerular sclerosis (disorder) | Focal glomerular sclerosis | MONDO:0100313 | FGS - Focal glomerulosclerosis | SNOMEDCT ID:25821008 | focal segmental glomerulosclerosis | Focal glomerulosclerosis | DOID:1312 +BMGC_DS00973,BMG_DS001255,SNOMEDCT ID:45534005 | ICD11 ID:DA03.0 | Glossitis | SNOMEDCT ID:155666003 | MONDO:0006771 | MeSH ID:D005928 | OMIM ID:MTHU037108 | glossitis | Glossitis (disorder) | DOID:1456 | Inflammation of tongue | UMLS ID:C0017675 | ICD10 ID:K14.0 +BMGC_DS00974,BMG_DS001256,"UMLS ID:C0017677 | Glossitis, Benign Migratory | geographic tongue | DOID:1455 | MeSH ID:D005929 | MONDO:0005771" +BMGC_DS00975,BMG_DS001257,MONDO:0019959 | glucagonoma | UMLS ID:C0017689 +BMGC_DS00976,BMG_DS001258,MeSH ID:D006008 | MONDO:0002412 | disorder of glycogen metabolism | Glycogen Storage Disease | glycogen storage disease | DOID:2747 | UMLS ID:C0017919 +BMGC_DS00977,BMG_DS001259,Glycogen Storage Disease Type I | MeSH ID:D005953 | DOID:0081329 | UMLS ID:C0017920 | glycogen storage disease I | MONDO:0002413 +BMGC_DS00978,BMG_DS001260,"SNOMEDCT ID:237967002 | MONDO:0009290 | OMIM ID:232300 | Lysosomal alpha-1,4-glucosidase deficiency (disorder) | glycogen storage disease II | DOID:2752 | UMLS ID:C0017921 | Glycogen storage disease type II | alpha-1,4-Glucosidase deficiency | AMD - Acid maltase deficiency | alpha-Glucosidase deficiency | Acid maltase deficiency | Lysosomal alpha-1,4-glucosidase deficiency" +BMGC_DS00979,BMG_DS001261,glycogen storage disease III | DOID:2748 | MONDO:0009291 | OMIM ID:232400 | UMLS ID:C0017922 | MeSH ID:D006010 | Glycogen Storage Disease Type III +BMGC_DS00980,BMG_DS001262,glycogen storage disease due to glycogen branching enzyme deficiency | DOID:2750 | Glycogen Storage Disease Type IV | glycogen storage disease IV | OMIM ID:232500 | UMLS ID:C0017923 | MONDO:0009292 | MeSH ID:D006011 +BMGC_DS00981,BMG_DS001263,DOID:2746 | MONDO:0009293 | UMLS ID:C0017924 | MeSH ID:D006012 | OMIM ID:232600 | glycogen storage disease V | Glycogen Storage Disease Type V +BMGC_DS00982,BMG_DS001264,Glycogen Storage Disease Type VI | DOID:2754 | glycogen storage disease VI | MeSH ID:D006013 | UMLS ID:C0017925 | MONDO:0009294 | OMIM ID:232700 +BMGC_DS00983,BMG_DS001265,glycogen storage disease VII | DOID:11721 | UMLS ID:C0017926 | OMIM ID:232800 | MONDO:0009295 | Glycogen Storage Disease Type VII | MeSH ID:D006014 +BMGC_DS00984,BMG_DS001266,glycogen storage disease VIII | MeSH ID:D006015 | Glycogen Storage Disease Type VIII | DOID:2751 | UMLS ID:C0017927 +BMGC_DS00985,BMG_DS001267,UMLS ID:C0017980 | renal glycosuria | DOID:9432 +BMGC_DS00986,BMG_DS001268,UMLS ID:C0018013 | DOID:11379 | SNOMEDCT ID:44086001 | Gnathostomiasis | Gnathostomosis | gnathomiasis | Infection caused by Gnathostoma (disorder) | ICD11 ID:1F67 | ICD10 ID:B83.1 | Infection caused by Gnathostoma | MONDO:0005776 | MeSH ID:D058429 | Gnathomiasis | Infection by Gnathostoma +BMGC_DS00987,BMG_DS001270,Enlargement of thyroid | Goiter (disorder) | Goiter | DOID:12176 | SNOMEDCT ID:237568003 | MONDO:0005397 | Goitre (disorder) | UMLS ID:C0018021 | Goitre | Struma of thyroid | SNOMEDCT ID:3716002 | Thyroid goiter | Thyroid goitre | Thyroid enlargement | Struma - goiter | Thyromegaly | Swelling of thyroid gland | goiter | MeSH ID:D006042 | OMIM ID:MTHU001215 | Struma - goitre +BMGC_DS00988,BMG_DS001271,MONDO:0006742 | Endemic goiter | SNOMEDCT ID:56805008 | SNOMEDCT ID:271949009 | Iodine-deficiency-related diffuse (endemic) goiter | Iodine-deficiency-related endemic goiter | Iodine-deficiency-related diffuse (endemic) goitre | endemic goiter | DOID:13198 | UMLS ID:C0018022 | Simple iodine deficiency goitre | Iodine-deficiency-related endemic goitre | Simple iodine deficiency goiter | Endemic goiter (disorder) | Iodine-deficiency-related endemic goiter (disorder) | Endemic goitre +BMGC_DS00989,BMG_DS001272,"Nodular Goiter | DOID:13197 | MONDO:0006869 | nodular goiter | MeSH ID:D006044 | UMLS ID:C0018023 | Goiter, Nodular" +BMGC_DS00990,BMG_DS001273,Retrosternal goiter | DOID:13200 | Substernal goitre | MONDO:0006986 | Substernal goiter | Intrathoracic goitre | Retrosternal goitre | Intrathoracic goiter | Substernal thyroid goiter | UMLS ID:C0018024 | Substernal goiter (disorder) | substernal goiter | SNOMEDCT ID:66392007 +BMGC_DS00991,BMG_DS001274,"MeSH ID:D006978 | Hypertension, Renovascular | UMLS ID:C0018036 | Hypertension, Goldblatt" +BMGC_DS00992,BMG_DS001275,UMLS ID:C0018050 | gonadal disease | DOID:2277 | Gonadal Disorders | MeSH ID:D006058 | gonadal disorder | MONDO:0002259 +BMGC_DS00993,BMG_DS001276,UMLS ID:C0018051 | gonadal dysgenesis | DOID:14447 | MONDO:0001967 +BMGC_DS00994,BMG_DS001277,"UMLS ID:C0018054 | 46,XY sex reversal | MeSH ID:D006061 | DOID:14448 | Gonadal Dysgenesis, 46,XY" +BMGC_DS00995,BMG_DS001278,"mixed gonadal dysgenesis | UMLS ID:C0018055 | MONDO:0001969 | Gonadal Dysgenesis, Mixed | MeSH ID:D006060 | DOID:14449" +BMGC_DS00996,BMG_DS001283,GCI - Gonococcal infection | UMLS ID:C0018081 | SNOMEDCT ID:186943001 | MeSH ID:D006069 | (Gonococcal infections NOS) or (gonorrhoea) (disorder) | (Gonococcal infections NOS) or (gonorrhoea) | (Gonococcal infections NOS) or (gonorrhea) | MONDO:0004277 | GC - Gonococcus infection | Clap | Gonococcal infection | Gonorrhea (disorder) | Gonorrhea | gonorrhea | Infection due to Neisseria gonorrhoeae | Gonorrhoea | DOID:7551 | SNOMEDCT ID:15628003 | Gonococcal infections NOS +BMGC_DS00997,BMG_DS001284,SNOMEDCT ID:90560007 | Gout (disorder) | MeSH ID:D006073 | UMLS ID:C0018099 | DOID:13189 | MONDO:0005393 | ICD10 ID:M10 | gout | OMIM ID:MTHU037100 | Gout +BMGC_DS00998,BMG_DS001286,graft versus host disease | DOID:0081267 | MeSH ID:D006086 | Graft vs Host Disease | graft-versus-host disease | Graft-vs-Host Disease | MONDO:0013730 | UMLS ID:C0018133 +BMGC_DS00999,BMG_DS001287,"granular corneal dystrophy | MONDO:0001490 | corneal granular dystrophy | Granular Dystrophy, Corneal | UMLS ID:C0018179 | Corneal Dystrophies, Hereditary | MeSH ID:D003317 | DOID:12318" +BMGC_DS01000,BMG_DS001288,MeSH ID:D006100 | Granuloma Inguinale | MONDO:0005777 | UMLS ID:C0018190 | granuloma inguinale | DOID:9113 +BMGC_DS01001,BMG_DS001290,nasal cavity and paranasal sinus lethal midline granuloma | DOID:9072 | lethal midline granuloma | MONDO:0006828 | UMLS ID:C0018197 +BMGC_DS01002,BMG_DS001291,"UMLS ID:C0018200 | MeSH ID:D015769 | Granuloma, Respiratory Tract" +BMGC_DS01003,BMG_DS001292,"UMLS ID:C0018202 | granulomatous angiitis | MONDO:0002341 | MeSH ID:D020293 | DOID:2555 | Vasculitis, Central Nervous System | Granulomatous Angiitis" +BMGC_DS01004,BMG_DS001293,MONDO:0018305 | SNOMEDCT ID:191354002 | DOID:3265 | CGD - Chronic granulomatous disease | Congenital dysphagocytosis | chronic granulomatous disease | UMLS ID:C0018203 | Granulomatous disease | Chronic granulomatous disease (disorder) | SNOMEDCT ID:387759001 | SNOMEDCT ID:11210002 | Chronic granulomatous disease +BMGC_DS01005,BMG_DS001295,DOID:2999 | MONDO:0006036 | UMLS ID:C0018206 | granulosa cell tumor +BMGC_DS01006,BMG_DS001296,Graves Disease | Graves' disease | MONDO:0005364 | UMLS ID:C0018213 | MeSH ID:D006111 | Graves disease | DOID:12361 +BMGC_DS01007,BMG_DS001297,"Groenouw's Dystrophies | MeSH ID:D003317 | Corneal Dystrophies, Hereditary | UMLS ID:C0018245" +BMGC_DS01008,BMG_DS001298,MONDO:0016218 | Guillain-Barre syndrome | DOID:12842 | MeSH ID:D020275 | Guillain-Barre Syndrome | UMLS ID:C0018378 +BMGC_DS01009,BMG_DS001299,Gynatresia | MONDO:0002946 | gynatresia | MeSH ID:D006175 | DOID:429 | UMLS ID:C0018414 +BMGC_DS01010,BMG_DS001300,Gynaecomazia | Breasts enlarged | UMLS ID:C0018418 | SNOMEDCT ID:266646002 | (Breasts enlarged) or (hypertrophy) or (gynaecomastia) (disorder) | Gynecomazia | SNOMEDCT ID:155963008 | SNOMEDCT ID:198112004 | Hypertrophy of male breast | OMIM ID:MTHU006965 | MONDO:0001571 | Gynaecomastia (& [bilateral] or [unilateral]) (disorder) | Enlarged breasts | DOID:12698 | ICD10 ID:N62 | Hypertrophy - breast | (Breasts enlarged) or (hypertrophy) or (gynecomastia) | Unilateral gynaecomastia | (Breasts enlarged) or (hypertrophy) or (gynaecomastia) | SNOMEDCT ID:4754008 | Bilateral gynecomastia | Gynaecomastia (& [bilateral] or [unilateral]) | MeSH ID:D006177 | gynecomastia | (Breasts enlarged) or (hypertrophy) or (gynaecomastia) (finding) | Unilateral gynecomastia | Bilateral gynaecomastia | gynecomastia disorder | Gynecomastia (disorder) | Gynecomastia | Gynecomastia (& [bilateral] or [unilateral]) | Gynaecomastia | Breast hypertrophy +BMGC_DS01011,BMG_DS001301,DOID:1415 | gyrate atrophy | Gyrate Atrophy | MONDO:0009796 | ornithine aminotransferase deficiency | MeSH ID:D015799 | OMIM ID:258870 | UMLS ID:C0018425 +BMGC_DS01012,BMG_DS001304,DOID:3332 | MeSH ID:D006188 | UMLS ID:C0018477 | haemonchiasis | Haemonchiasis | MONDO:0005778 +BMGC_DS01013,BMG_DS001305,MONDO:0006926 | haemophilus infectious disease | Haemophilus Infections | UMLS ID:C0018482 | MeSH ID:D006192 +BMGC_DS01014,BMG_DS001306,UMLS ID:C0018500 | Hair Diseases | MeSH ID:D006201 | DOID:421 | hair disease +BMGC_DS01015,BMG_DS001308,MeSH ID:D006210 | MONDO:0009318 | OMIM ID:234100 | UMLS ID:C0018522 | Hallermann's Syndrome | Hallermann-Streiff syndrome | DOID:4534 +BMGC_DS01016,BMG_DS001309,Hallervorden-Spatz Syndrome | Pantothenate Kinase-Associated Neurodegeneration | MONDO:0009319 | pantothenate kinase-associated neurodegeneration | DOID:3981 | UMLS ID:C0018523 | OMIM ID:234200 | MeSH ID:D006211 +BMGC_DS01017,BMG_DS001310,DOID:12797 | UMLS ID:C0018526 | MONDO:0001585 | hallucinogen abuse +BMGC_DS01018,BMG_DS001311,UMLS ID:C0018528 | DOID:9977 | MONDO:0004939 | hallucinogen dependence +BMGC_DS01019,BMG_DS001313,hamartoma | UMLS ID:C0018552 | MONDO:0006499 +BMGC_DS01020,BMG_DS001314,Cowden syndrome | Cowden disease | UMLS ID:C0018553 | DOID:6457 | MONDO:0016063 +BMGC_DS01021,BMG_DS001315,hand dermatosis | DOID:3158 | UMLS ID:C0018567 | Hand Dermatoses | MeSH ID:D006229 | MONDO:0006556 +BMGC_DS01022,BMG_DS001316,"UMLS ID:C0018572 | MONDO:0005779 | hand, foot and mouth disease | Hand, Foot and Mouth Disease | MeSH ID:D006232 | DOID:10881" +BMGC_DS01023,BMG_DS001317,MONDO:0009324 | Hartnup Disease | UMLS ID:C0018609 | DOID:1060 | OMIM ID:234500 | MeSH ID:D006250 | Hartnup disease +BMGC_DS01024,BMG_DS001318,Hashish Abuse | Marijuana Abuse | UMLS ID:C0018614 | MeSH ID:D002189 +BMGC_DS01025,BMG_DS001319,MONDO:0005324 | Allergic rhinitis caused by pollens | Seasonal allergic rhinitis (disorder) | SNOMEDCT ID:21719001 | ICD10 ID:J30.1 | UMLS ID:C0018621 | SNOMEDCT ID:70369002 | ICD11 ID:CA08.00 | Allergic rhinitis due to pollen | Allergic rhinitis caused by pollen (disorder) | Hay fever | Hayfever | Seasonal allergic rhinitis | Pollinosis | OMIM ID:MTHU037792 | seasonal allergic rhinitis | Allergic rhinitis caused by pollen +BMGC_DS01026,BMG_DS001320,head and neck neoplasm | head and neck cancer | UMLS ID:C0018671 | MONDO:0005586 | DOID:11934 +BMGC_DS01027,BMG_DS001321,"UMLS ID:C0018775 | MeSH ID:D006312 | Hearing Loss, Bilateral" +BMGC_DS01028,BMG_DS001323,CHL - Conductive hearing loss | Conductive hearing loss | Conductive hearing loss (disorder) | SNOMEDCT ID:155255001 | CD - Conductive deafness | conductive hearing loss disorder | MONDO:0020679 | SNOMEDCT ID:44057004 | OMIM ID:MTHU036345 | UMLS ID:C0018777 | Conductive deafness +BMGC_DS01029,BMG_DS001324,"Hearing Loss, High-Frequency | MeSH ID:D006316 | UMLS ID:C0018780" +BMGC_DS01030,BMG_DS001325,MONDO:0013098 | noise induced hearing loss | UMLS ID:C0018781 +BMGC_DS01031,BMG_DS001326,sensorineural hearing loss | sensorineural hearing loss disorder | UMLS ID:C0018784 | DOID:10003 | MONDO:0020678 +BMGC_DS01032,BMG_DS001327,Heart Aneurysm | heart aneurysm | DOID:9768 | MeSH ID:D006322 | UMLS ID:C0018789 | MONDO:0006779 +BMGC_DS01033,BMG_DS001328,Heart Arrest | DOID:0060319 | cardiac arrest | MeSH ID:D006323 | UMLS ID:C0018790 | Cardiac Arrest | MONDO:0000745 +BMGC_DS01034,BMG_DS001329,UMLS ID:C0018794 | Heart Block | MeSH ID:D006327 +BMGC_DS01035,BMG_DS001330,congenital heart disease | DOID:1682 | UMLS ID:C0018798 +BMGC_DS01036,BMG_DS001331,DOID:114 | UMLS ID:C0018799 | Heart Diseases | MeSH ID:D006331 | MONDO:0005267 | heart disorder | heart disease +BMGC_DS01037,BMG_DS001332,MONDO:0005252 | Myocardial failure | Weak heart | Cardiac insufficiency | Heart failure | HF - Heart failure | SNOMEDCT ID:84114007 | OMIM ID:MTHU009472 | Heart failure (disorder) | congestive heart failure | ICD10 ID:I50 | Cardiac failure | SNOMEDCT ID:155374007 | heart failure | DOID:6000 | UMLS ID:C0018801 +BMGC_DS01038,BMG_DS001333,CCF - Congestive cardiac failure | SNOMEDCT ID:42343007 | SNOMEDCT ID:195108009 | MONDO:0005009 | UMLS ID:C0018802 | Congestive heart failure | Heart failure: [right] or [congestive] (disorder) | CHF - Congestive heart failure | congestive heart failure | Right heart failure | DOID:6000 | Congestive heart disease | OMIM ID:MTHU005753 | Right ventricular failure | Biventricular failure | Congestive heart failure (disorder) | Congestive cardiac failure | Heart failure: [right] or [congestive] +BMGC_DS01039,BMG_DS001334,DOID:117 | heart cancer | MONDO:0021209 | heart neoplasm | UMLS ID:C0018809 +BMGC_DS01040,BMG_DS001336,"MeSH ID:D006342 | UMLS ID:C0018814 | Heart Rupture, Post-Infarction" +BMGC_DS01041,BMG_DS001337,UMLS ID:C0018816 | DOID:1681 | MONDO:0002078 | heart septal defect +BMGC_DS01042,BMG_DS001338,DOID:1882 | atrial septal defect | atrial heart septal defect | UMLS ID:C0018817 | MONDO:0006664 +BMGC_DS01043,BMG_DS001339,UMLS ID:C0018818 | DOID:1657 | MONDO:0002070 | ventricular septal defect +BMGC_DS01044,BMG_DS001340,Heart valve disease | Valvular heart disease | Disorder of heart valve | heart valve disorder | Heart valve disorder | SNOMEDCT ID:368009 | DOID:4079 | heart valve disease | MONDO:0002869 | Heart valve disorder (disorder) | UMLS ID:C0018824 +BMGC_DS01045,BMG_DS001342,MONDO:0019464 | UMLS ID:C0018852 | DOID:0060125 | heavy chain disease +BMGC_DS01046,BMG_DS001343,gamma-heavy chain disease | heavy chain disease | MONDO:0015046 | UMLS ID:C0018854 | DOID:0060125 +BMGC_DS01047,BMG_DS001345,Worms | Infection caused by Cestoda and/or Trematoda and/or Phylum Nemata | parasitic helminthiasis infectious disease | SNOMEDCT ID:27601005 | Helminth infection | Helminthosis | Worm infestation | helminthiasis | DOID:883 | SNOMEDCT ID:187518006 | Helminthiasis | Worm infection | Helminthiasis (disorder) | Infection caused by Cestoda and/or Trematoda and/or Phylum Nematoda (disorder) | UMLS ID:C0018889 | MeSH ID:D006373 | MONDO:0004664 | Infection caused by Cestoda and/or Trematoda and/or Phylum Nematoda +BMGC_DS01048,BMG_DS001346,"UMLS ID:C0018891 | MeSH ID:D006374 | MONDO:0025082 | Helminthiasis, Animal | helminthiasis, animal" +BMGC_DS01049,BMG_DS001348,hemangioma | UMLS ID:C0018916 | MONDO:0006500 | DOID:255 +BMGC_DS01050,BMG_DS001349,cavernous hemangioma | DOID:483 | MONDO:0003155 | UMLS ID:C0018920 +BMGC_DS01051,BMG_DS001350,hemangiopericytoma | UMLS ID:C0018922 | DOID:264 | MONDO:0005094 +BMGC_DS01052,BMG_DS001351,angiosarcoma | DOID:0001816 | MONDO:0016982 | UMLS ID:C0018923 +BMGC_DS01053,BMG_DS001352,DOID:801 | MONDO:0004431 | hemarthrosis | UMLS ID:C0018924 +BMGC_DS01054,BMG_DS001354,MONDO:0001495 | Haematocoele | SNOMEDCT ID:66259004 | Male haematocele | Male hematocele | hematocele of tunica vaginalis testis | Hematocele | Male hematocele (disorder) | UMLS ID:C0018931 | Haematocoele of tunica vaginalis testis | Hematocele of tunica vaginalis testis | DOID:12332 +BMGC_DS01055,BMG_DS001355,Blood in feces | Faeces: blood | MeSH ID:D006471 | Hematochezia (finding) | Blood in stool (disorder) | Bright red blood in stool | BRBPR - Bright red blood per rectum | OMIM ID:MTHU006474 | Blood in stool | Haematochezia | SNOMEDCT ID:405729008 | UMLS ID:C0018932 | Bright red blood per rectum | SNOMEDCT ID:72256005 | Bloody stool | Feces: blood | Fresh blood passed per rectum | Passage of bloody stools | Gastrointestinal Hemorrhage | Blood in faeces | Hematochezia +BMGC_DS01056,BMG_DS001357,Hematologic Diseases | MeSH ID:D006402 | MONDO:0005570 | hematologic disorder | Hematological Disease | DOID:74 | UMLS ID:C0018939 | hematopoietic system disease +BMGC_DS01057,BMG_DS001358,DOID:9958 | MONDO:0006782 | UMLS ID:C0018948 | hemometra +BMGC_DS01058,BMG_DS001359,Spinal Cord Vascular Diseases | MeSH ID:D020758 | Intramedullary hemorrhage | SNOMEDCT ID:39134007 | Hematomyelia | UMLS ID:C0018949 | Hematomyelia (disorder) | Haematomyelia | Intramedullary haemorrhage | ICD10 ID:G95.19 +BMGC_DS01059,BMG_DS001361,Haematuria (disorder) | Traumatic hematuria | Haematuria (& [traumatic] or [essential]) | ICD10 ID:R31 | Blood in urine (finding) | OMIM ID:MTHU036916 | SNOMEDCT ID:197937006 | SNOMEDCT ID:266568001 | MeSH ID:D006417 | UMLS ID:C0018965 | Hematuria (& [traumatic] or [essential]) | Haematuria | Essential haematuria | Traumatic haematuria | SNOMEDCT ID:34436003 | Haematuria (& [traumatic] or [essential]) (disorder) | Hematuria | Blood in urine | Essential hematuria +BMGC_DS01060,BMG_DS001362,OMIM ID:MTHU038321 | Nyctalopia | Hemeralopia | Day blindness | Night blindness | ICD10 ID:H53.11 | Night blindness (disorder) | UMLS ID:C0018975 | MeSH ID:D014786 | Difficulty seeing at night | Vision Disorders | SNOMEDCT ID:75390007 | SNOMEDCT ID:65194006 | SNOMEDCT ID:399323001 | Day blindness (disorder) +BMGC_DS01061,BMG_DS001365,hemiplegia | MONDO:0001170 | UMLS ID:C0018991 +BMGC_DS01062,BMG_DS001366,MeSH ID:D006431 | UMLS ID:C0018994 | Biliary Tract Hemorrhage | Hemobilia +BMGC_DS01063,BMG_DS001367,"Iron storage disease | Copper disorder | von Recklinghausen-Appelbaum disease | Bronzed diabetes | Pigmentary cirrhosis of liver | SNOMEDCT ID:154751003 | Hereditary haemochromatosis | Bronzed cirrhosis | Iron &/or copper &/or magnesium disorder (& [hemochromatosis] or [Wilson's disease]) | von Recklinghausen-Applebaum disease | Iron &/or copper &/or magnesium disorder (& [haemochromatosis] or [Wilson's disease]) | hemochromatosis | DOID:2352 | SNOMEDCT ID:86781004 | Primary haemochromatosis | Iron, copper, magnesium metabolism disorder | UMLS ID:C0018995 | Iron &/or copper &/or magnesium disorder (& [haemochromatosis] or [Wilson's disease]) (disorder) | Hemochromatosis | SNOMEDCT ID:399187006 | SNOMEDCT ID:267504005 | Iron, copper, magnesium disord | Hereditary hemochromatosis | Magnesium disorder | Familial hemochromatosis | Hemochromatosis (disorder) | Wilson's disease | Primary hemochromatosis | Idiopathic haemochromatosis | Haemochromatosis | Familial haemochromatosis | MeSH ID:D006432 | Idiopathic hemochromatosis | ICD10 ID:E83.11 | Iron disorder" +BMGC_DS01064,BMG_DS001368,DOID:2859 | Hemoglobin C Disease | MONDO:0016242 | hemoglobin C disease | MeSH ID:D006445 | UMLS ID:C0019021 +BMGC_DS01065,BMG_DS001369,beta-Thalassemia | Hemoglobin F Disease | MeSH ID:D017086 | hereditary persistence of fetal hemoglobin | MONDO:0020989 | UMLS ID:C0019025 +BMGC_DS01066,BMG_DS001370,UMLS ID:C0019034 | MONDO:0016669 | sickle cell anemia | Hemoglobin SC Disease | DOID:10923 | MeSH ID:D006450 | sickle cell-hemoglobin c disease syndrome +BMGC_DS01067,BMG_DS001371,inherited hemoglobinopathy | Hemoglobinopathies | UMLS ID:C0019045 | DOID:2860 | MeSH ID:D006453 | MONDO:0019050;MONDO:0044348 | hemoglobinopathy +BMGC_DS01068,BMG_DS001372,hemoglobinuria | DOID:582 | MONDO:0003656 | UMLS ID:C0019048 +BMGC_DS01069,BMG_DS001374,"paroxysmal nocturnal hemoglobinuria | Hemoglobinuria, Paroxysmal | MeSH ID:D006457 | DOID:0060284 | UMLS ID:C0019050" +BMGC_DS01070,BMG_DS001375,UMLS ID:C0019061 | MeSH ID:D006463 | DOID:12554 | hemolytic-uremic syndrome | MONDO:0001549 | Hemolytic-Uremic Syndrome +BMGC_DS01071,BMG_DS001376,DOID:11482 | MONDO:0005783 | UMLS ID:C0019064 | hemopericardium +BMGC_DS01072,BMG_DS001377,"MeSH ID:D051359 | Lymphohistiocytosis, Hemophagocytic | Reactive Hemophagocytic Syndrome | UMLS ID:C0019068" +BMGC_DS01073,BMG_DS001378,Haemophilia A | hemophilia A | SNOMEDCT ID:28293008 | Classical haemophilia | Hereditary factor VIII deficiency disease | DOID:12134 | Hereditary factor VIII deficiency disease (disorder) | Hemophilia A | ICD10 ID:D66 | MeSH ID:D006467 | factor VIII deficiency | Sex-linked factor VIII deficiency | Classical hemophilia | OMIM ID:134500 | Congenital factor VIII deficiency disease | AHG deficiency disease | UMLS ID:C0019069 | OMIM ID:306700 | MONDO:0010602 +BMGC_DS01074,BMG_DS001379,hemopneumothorax | Pneumohaemothorax | ICD10 ID:J94.2 | DOID:2718 | UMLS ID:C0019077 | Pneumohemothorax | Haemothorax | OMIM ID:MTHU038542 | Hemopneumothorax | Haemopneumothorax | MeSH ID:D006468 | MONDO:0006783 | ICD11 ID:CB26 | Hemopneumothorax (disorder) | SNOMEDCT ID:16632002 +BMGC_DS01075,BMG_DS001380,UMLS ID:C0019087 | MeSH ID:D006474 | hemorrhagic disease | DOID:2213 | Hemorrhagic Disorders | MONDO:0002243 +BMGC_DS01076,BMG_DS001381,Hemorrhagic Disease of Newborn | MeSH ID:D006475 | hemorrhagic disease of newborn | UMLS ID:C0019088 | MONDO:0006784 | Vitamin K Deficiency Bleeding +BMGC_DS01077,BMG_DS001384,"MeSH ID:D006479 | Crimean-Congo hemorrhagic fever | DOID:12287 | Hemorrhagic Fever, Crimean | MONDO:0020501 | UMLS ID:C0019099" +BMGC_DS01078,BMG_DS001385,DOID:12206 | MeSH ID:D019595 | Severe Dengue | dengue hemorrhagic fever | Dengue hemorrhagic fever | MONDO:0005358 | UMLS ID:C0019100 +BMGC_DS01079,BMG_DS001386,MeSH ID:D006480 | MONDO:0018081 | Hantavirus hemorrhagic fever with renal syndrome | hemorrhagic fever-renal syndrome | Hemorrhagic Fever with Renal Syndrome | DOID:11266 | UMLS ID:C0019101 +BMGC_DS01080,BMG_DS001387,"MeSH ID:D006481 | UMLS ID:C0019103 | Omsk hemorrhagic fever | MONDO:0017882 | DOID:992 | Hemorrhagic Fever, Omsk" +BMGC_DS01081,BMG_DS001389,Hemorrhoid | Piles - haemorrhoids | Hemorrhoids | Haemorrhoids | UMLS ID:C0019112 | MONDO:0004872 | Haemorrhoid | Piles | Hemorrhoids (disorder) | MeSH ID:D006484 | hemorrhoid | DOID:9746 | SNOMEDCT ID:70153002 | Piles - hemorrhoids +BMGC_DS01082,BMG_DS001390,MONDO:0001436 | Hemosiderosis | hemosiderosis | OMIM ID:MTHU067796 | Hemosiderosis (disorder) | DOID:12119 | UMLS ID:C0019114 | MeSH ID:D006486 | SNOMEDCT ID:39011001 | Haemosiderosis +BMGC_DS01083,BMG_DS001392,UMLS ID:C0019147 | MeSH ID:D006501 | DOID:12550 | Hepatic Coma | MONDO:0001548 | Hepatic Encephalopathy | hepatic coma +BMGC_DS01084,BMG_DS001393,hepatic encephalopathy | UMLS ID:C0019151 | MONDO:0001711 | MeSH ID:D006501 | DOID:13413 | Hepatic Encephalopathy +BMGC_DS01085,BMG_DS001394,UMLS ID:C0019154 | MeSH ID:D006502 | MONDO:0006786 | Budd-Chiari syndrome | DOID:11512 | hepatic vein thrombosis | Budd-Chiari Syndrome | Hepatic Vein Thrombosis +BMGC_DS01086,BMG_DS001395,DOID:0080177 | hepatic veno-occlusive disease | UMLS ID:C0019156 | MONDO:0019514 | Hepatic Veno-Occlusive Disease | MeSH ID:D006504 +BMGC_DS01087,BMG_DS001396,OMIM ID:MTHU067436 | SNOMEDCT ID:29001004 | hepatitis | Inflammatory disorder of liver | Inflammatory disease of liver | Hepatitis (disorder) | Inflammatory disease of liver (disorder) | MeSH ID:D006505 | Hepatitis | SNOMEDCT ID:128241005 | UMLS ID:C0019158 | MONDO:0002251 | Inflammatory liver disease +BMGC_DS01088,BMG_DS001397,"Hepatitis A | Infectious hepatitis | MONDO:0005790 | Viral hepatitis, type A (disorder) | UMLS ID:C0019159 | Viral hepatitis, type A | SNOMEDCT ID:40468003 | IH - Infectious hepatitis | hepatitis A virus infection | hepatitis A | DOID:12549 | MeSH ID:D006506" +BMGC_DS01089,BMG_DS001398,MONDO:0005344 | Viral hepatitis type B | hepatitis B virus infection | SH - Serum hepatitis | SNOMEDCT ID:66071002 | Viral hepatitis type B (disorder) | hepatitis B | Hepatitis B infection | DOID:2043 | MeSH ID:D006509 | Type B viral hepatitis | Hepatitis B | UMLS ID:C0019163 | Serum hepatitis +BMGC_DS01090,BMG_DS001399,"UMLS ID:C0019187 | MONDO:0001505 | MeSH ID:D006519 | alcoholic hepatitis | Hepatitis, Alcoholic" +BMGC_DS01091,BMG_DS001400,"MeSH ID:D006520 | Hepatitis, Animal | hepatitis, non-human animal | UMLS ID:C0019188 | MONDO:0024945" +BMGC_DS01092,BMG_DS001401,"Hepatitis, Chronic | UMLS ID:C0019189 | hepatitis | DOID:2237 | MeSH ID:D006521" +BMGC_DS01093,BMG_DS001403,"MONDO:0025085 | DOID:1884 | UMLS ID:C0019194 | MeSH ID:D006524 | viral hepatitis | Hepatitis, Viral, Animal | hepatitis, viral, animal" +BMGC_DS01094,BMG_DS001404,"UMLS ID:C0019195 | Hepatitis, Viral, Human | MeSH ID:D006525" +BMGC_DS01095,BMG_DS001405,hepatitis C | MONDO:0005231 | SNOMEDCT ID:154349000 | Type C viral hepatitis | MeSH ID:D006526 | SNOMEDCT ID:186643004 | Hepatitis C | Viral hepatitis type C | hepatitis C virus infection | DOID:1883 | SNOMEDCT ID:50711007 | Hepatitis C (disorder) | Viral hepatitis type C (disorder) | Viral hepatitis C | UMLS ID:C0019196 +BMGC_DS01096,BMG_DS001406,OMIM ID:277900 | UMLS ID:C0019202 | MONDO:0010200 | DOID:893 | Hepatolenticular Degeneration | Wilson disease | MeSH ID:D006527 +BMGC_DS01097,BMG_DS001407,hepatorenal syndrome | Hepatorenal Syndrome | DOID:11823 | MeSH ID:D006530 | MONDO:0001382 | UMLS ID:C0019212 +BMGC_DS01098,BMG_DS001408,"UMLS ID:C0019243 | MONDO:0019623 | MeSH ID:D054179 | DOID:14735 | Angioedemas, Hereditary | hereditary angioedema" +BMGC_DS01099,BMG_DS001409,"DOID:630 | hereditary disease | Genetic Diseases, Inborn | UMLS ID:C0019247 | MeSH ID:D030342 | MONDO:0003847 | Hereditary Diseases | genetic disease" +BMGC_DS01100,BMG_DS001411,DOID:3763 | UMLS ID:C0019269 | hermaphroditism +BMGC_DS01101,BMG_DS001412,DOID:3827 | congenital diaphragmatic hernia | UMLS ID:C0019284 +BMGC_DS01102,BMG_DS001413,UMLS ID:C0019294 | inguinal hernia | DOID:0060320 +BMGC_DS01103,BMG_DS001414," | Inguinal Hernia, Direct | DOID:0060320 | obsolete inguinal hernia | Hernia, Inguinal | MONDO:0000746 | inguinal hernia | MeSH ID:D006552 | UMLS ID:C0019295" +BMGC_DS01104,BMG_DS001415,inguinal hernia | UMLS ID:C0019296 | DOID:0060320 +BMGC_DS01105,BMG_DS001418,heroin dependence | MONDO:0005367 | DOID:9976 | UMLS ID:C0019337 +BMGC_DS01106,BMG_DS001419,UMLS ID:C0019338 | DOID:10883 | SNOMEDCT ID:266197009 | Enteroviral vesicular pharyngitis (disorder) | (Other coxsackie disease) or (herpangina) | ICD10 ID:B08.5 | (Other coxsackie disease) or (herpangina) (disorder) | Herpangina | ICD11 ID:1F05.1 | herpangina | Enteroviral vesicular pharyngitis | MONDO:0005791 | Other coxsackie disease | SNOMEDCT ID:186659004 | SNOMEDCT ID:154358007 | MeSH ID:D006557 | SNOMEDCT ID:37428001 | Herpangina (disorder) +BMGC_DS01107,BMG_DS001420,DOID:8704 | UMLS ID:C0019342 | MeSH ID:D006558 | MONDO:0005770 | Genital Herpes | Herpes Genitalis | genital herpes +BMGC_DS01108,BMG_DS001422,MeSH ID:D006560 | herpes labialis | MONDO:0043653 | Herpes Labialis | UMLS ID:C0019345 +BMGC_DS01109,BMG_DS001423,UMLS ID:C0019348 | herpes simplex | DOID:8566 | herpes simplex infectious disease | Herpes simplex viral infection | Herpes simplex (disorder) | SNOMEDCT ID:88594005 | MONDO:0004609 | Herpes simplex complex | Herpes simplex | Herpes simplex infection +BMGC_DS01110,BMG_DS001424,"UMLS ID:C0019357 | herpes simplex virus keratitis | MeSH ID:D016849 | MONDO:0015288 | Keratitis, Herpetic" +BMGC_DS01111,BMG_DS001426,Shingles | Herpes zoster | DOID:8536 | Zoster | Herpes zoster infection | UMLS ID:C0019360 | Zona | herpes zoster | Herpes zoster (disorder) | MONDO:0005609 | SNOMEDCT ID:4740000 +BMGC_DS01112,BMG_DS001428,Herpes Zoster Ophthalmicus | ophthalmic herpes zoster | UMLS ID:C0019364 | MeSH ID:D006563 | MONDO:0005883 +BMGC_DS01113,BMG_DS001429,Shingles | UMLS ID:C0019366 | Herpes zoster | Herpes zoster without mention of complication | Zoster | Herpes zoster infection | Zona | Herpes zoster (disorder) | SNOMEDCT ID:4740000 +BMGC_DS01114,BMG_DS001430,Herpesviridae infectious disease | MONDO:0005794 | UMLS ID:C0019372 | Herpesviridae Infections | MeSH ID:D006566 +BMGC_DS01115,BMG_DS001433,"MeSH ID:D015319 | UMLS ID:C0019489 | Deficiency, Hexosediphosphatase | Fructose-1,6-Diphosphatase Deficiency" +BMGC_DS01116,BMG_DS001434,DOID:3896 | sweat gland adenoma | MONDO:0021110 | hidradenoma | UMLS ID:C0019522 +BMGC_DS01117,BMG_DS001435,UMLS ID:C0019537 | MONDO:0002570 | DOID:3230 | MeSH ID:D006610 | High Pressure Neurological Syndrome | high pressure neurological syndrome +BMGC_DS01118,BMG_DS001438,MONDO:0008667 | UMLS ID:C0019562 | OMIM ID:193300 | DOID:14175 | von Hippel-Lindau disease +BMGC_DS01119,BMG_DS001439,Hirschsprung's disease | UMLS ID:C0019569 | Hirschsprung Disease | DOID:10487 | MeSH ID:D006627 | Hirschsprung disease | MONDO:0018309 +BMGC_DS01120,BMG_DS001441,"Excessive hair growth | Excessive hair growth (disorder) | Pilosis | Excessive growth of hair | Hirsuties | OMIM ID:MTHU036369 | MeSH ID:D006628 | SNOMEDCT ID:399939002 | Hirsutes | ICD11 ID:ED72.Z | Hirsutism (disorder) | SNOMEDCT ID:40090008 | Hirsutism | Hirsutism, unspecified | ICD10 ID:L68.0 | Hairiness | UMLS ID:C0019572" +BMGC_DS01121,BMG_DS001442,hirudiniasis | SNOMEDCT ID:266225001 | Hirudiniasis - leech infestation | DOID:11079 | SNOMEDCT ID:64351000 | Other infect. and parasit.dis. | Other infectious and parasitic diseases | Leeches | MONDO:0001191 | Toxoplasmosis | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder) | UMLS ID:C0019575 | Hirudiniasis | Leech infestation (disorder) | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | Myiasis | leech infestation | Leech infestation | Maggot infestation | SNOMEDCT ID:154423006 +BMGC_DS01122,BMG_DS001443,malignant histiocytic disease | UMLS ID:C0019613 | DOID:2570 +BMGC_DS01123,BMG_DS001444,UMLS ID:C0019618 | MONDO:0002637 | histiocytosis | DOID:3405 +BMGC_DS01124,BMG_DS001445,UMLS ID:C0019621 | Langerhans cell histiocytosis | MONDO:0018310 | OMIM ID:604856 | DOID:2571 | Langerhans-cell histiocytosis +BMGC_DS01125,BMG_DS001447,"Histiocytosis, Non-Langerhans-Cell | DOID:4330 | MeSH ID:D015616 | non-Langerhans-cell histiocytosis | non-Langerhans cell histiocytosis | UMLS ID:C0019624 | MONDO:0015531" +BMGC_DS01126,BMG_DS001448,MONDO:0006412 | UMLS ID:C0019625 | sinus histiocytosis with massive lymphadenopathy +BMGC_DS01127,BMG_DS001449,Histomonosis | UMLS ID:C0019640 | Protozoan Infections | Infection caused by Histomonas (disorder) | SNOMEDCT ID:35047007 | Infection caused by Histomonas | Infection by Histomonas | Histomoniasis | MeSH ID:D011528 | MONDO:0002428 | protozoa infectious disease +BMGC_DS01128,BMG_DS001450,Other mycoses | Mycoses - other | SNOMEDCT ID:154408001 | SNOMEDCT ID:266218008 | Aspergillosis | MeSH ID:D006660 | Coccidioidomycosis | DOID:1731 | Histoplasmosis (disorder) | UMLS ID:C0019655 | Histoplasmosis | SNOMEDCT ID:12962009 | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Piedra | Sporotrichosis | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | MONDO:0018312 | ICD10 ID:B39 | histoplasmosis +BMGC_DS01129,BMG_DS001451,histrionic personality disorder | MONDO:0002613 | UMLS ID:C0019681 | DOID:334 +BMGC_DS01130,BMG_DS001452,UMLS ID:C0019693 | HIV Infections | MONDO:0005109 | DOID:526 | human immunodeficiency virus infectious disease | HIV infectious disease | MeSH ID:D015658 +BMGC_DS01131,BMG_DS001453,"MeSH ID:D015417 | UMLS ID:C0019816 | Hereditary, Type VII, Motor and Sensory Neuropathy | Hereditary Sensory and Motor Neuropathy" +BMGC_DS01132,BMG_DS001454,MONDO:0009348 | Hodgkin's lymphoma | DOID:8567 | UMLS ID:C0019829 | OMIM ID:236000 | classic Hodgkin lymphoma +BMGC_DS01133,BMG_DS001456,Homocystinuria (disorder) | MONDO:0004737 | ICD10 ID:E72.11 | DOID:9263 | OMIM ID:MTHU037510 | MeSH ID:D006712 | UMLS ID:C0019880 | SNOMEDCT ID:190709008 | homocystinuria | Homocystinuria | SNOMEDCT ID:11282001 +BMGC_DS01134,BMG_DS001457,UMLS ID:C0019911 | Hookworm Infections | MeSH ID:D006725 +BMGC_DS01135,BMG_DS001458,SNOMEDCT ID:155172004 | Hordeolum externum | Sty | Hordeolum | Furuncle of eyelid | SNOMEDCT ID:267736000 | Hordeolum (disorder) | MONDO:0005800 | Boil of eyelid | (Stye &/or [hordeolum]) or (cellulitis eyelid) or (meibomian cyst) | UMLS ID:C0019917 | SNOMEDCT ID:74612003 | Meibomian cyst | Stye/hordeolum | MeSH ID:D006726 | hordeolum | Cellulitis of eyelid | SNOMEDCT ID:397513003 | Stye | Cellulitis - eyelid | (Stye &/or [hordeolum]) or (cellulitis eyelid) or (meibomian cyst) (disorder) | DOID:9909 | Stye (disorder) | SNOMEDCT ID:193912000 +BMGC_DS01136,BMG_DS001460,"Hordeolum externum | SNOMEDCT ID:1489008 | UMLS ID:C0019919 | Boil of eyelid | Stye | Sty | Hordeolum | MONDO:0001642 | hordeolum externum | SNOMEDCT ID:193912000 | Furuncle of eyelid | External hordeolum | Stye (disorder) | ICD10 ID:H00.01 | Hordeolum, external | DOID:13134 | Hordeolum externum (disorder)" +BMGC_DS01137,BMG_DS001461,Horner's syndrome | UMLS ID:C0019937 | MONDO:0001294 | MeSH ID:D006732 | DOID:11486 | Horner Syndrome | Horner syndrome +BMGC_DS01138,BMG_DS001462,MeSH ID:D006734 | UMLS ID:C0019940 | MONDO:0024950 | Horse Diseases | horse disease +BMGC_DS01139,BMG_DS001463,"Hereditary Sensory and Autonomic Neuropathies | MONDO:0018213 | Hereditary Sensory Autonomic Neuropathy, Type 1 | UMLS ID:C0020071 | MeSH ID:D009477 | DOID:0050548;DOID:0070162 | hereditary sensory and autonomic neuropathy type 1 | hereditary sensory neuropathy" +BMGC_DS01140,BMG_DS001464,"Hereditary Sensory Autonomic Neuropathy, Type 2 | hereditary sensory and autonomic neuropathy type 2 | Hereditary Sensory and Autonomic Neuropathies | MeSH ID:D009477 | DOID:0050548;DOID:0070161 | UMLS ID:C0020072 | hereditary sensory neuropathy" +BMGC_DS01141,BMG_DS001465,UMLS ID:C0020074 | Hereditary Sensory and Autonomic Neuropathies | hereditary sensory and autonomic neuropathy type 4 | MeSH ID:D009477 | DOID:0050548;DOID:0070146 | OMIM ID:256800 | HSAN Type IV | MONDO:0009746 | hereditary sensory neuropathy type 4 | hereditary sensory neuropathy +BMGC_DS01142,BMG_DS001466,"Hereditary Sensory Autonomic Neuropathy, Type 5 | Hereditary Sensory and Autonomic Neuropathies | MONDO:0012092 | MeSH ID:D009477 | hereditary sensory and autonomic neuropathy type 5 | DOID:0050548;DOID:0070145 | UMLS ID:C0020075 | OMIM ID:608654 | hereditary sensory neuropathy" +BMGC_DS01143,BMG_DS001468,human T-lymphotropic virus 1 infectious disease | HTLV-I Infections | MONDO:0005801 | MeSH ID:D015490 | UMLS ID:C0020097 +BMGC_DS01144,BMG_DS001470,MONDO:0007739 | UMLS ID:C0020179 | Huntington's disease | Huntington Disease | DOID:12858 | Huntington disease | MeSH ID:D006816 | OMIM ID:143100 +BMGC_DS01145,BMG_DS001471,MeSH ID:D006819 | DOID:12716 | Hyaline Membrane Disease | newborn respiratory distress syndrome | UMLS ID:C0020192 +BMGC_DS01146,BMG_DS001472,DOID:3590 | hydatidiform mole | gestational trophoblastic neoplasm | MONDO:0006248 | UMLS ID:C0020217 +BMGC_DS01147,BMG_DS001473,DOID:8488 | UMLS ID:C0020224 | MONDO:0004585 | polyhydramnios +BMGC_DS01148,BMG_DS001474,DOID:4626 | MONDO:0016344 | hydranencephaly | UMLS ID:C0020225 +BMGC_DS01149,BMG_DS001475,MONDO:0018024 | Hydroa Vacciniforme | UMLS ID:C0020241 | hydroa vacciniforme | MeSH ID:D006837 +BMGC_DS01150,BMG_DS001476,OMIM ID:MTHU002499 | SNOMEDCT ID:267687006 | MONDO:0001150 | Hydrocephalus | hydrocephalus | SNOMEDCT ID:192807008 | SNOMEDCT ID:154995000 | SNOMEDCT ID:230745008 | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) (disorder) | Child cerebral degeneration | MeSH ID:D006849 | Senile brain degen. | ICD10 ID:G91 | SNOMEDCT ID:154997008 | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) | Senile degeneration of brain | Hydrocephaly | UMLS ID:C0020255 | DOID:10908 | Hydrocephalus (disorder) +BMGC_DS01151,BMG_DS001477,MONDO:0016349 | congenital hydrocephalus | UMLS ID:C0020256 +BMGC_DS01152,BMG_DS001478,"Hydrocephalus, Normal Pressure | MeSH ID:D006850 | UMLS ID:C0020258 | DOID:1572 | normal pressure hydrocephalus | OMIM ID:236690 | MONDO:0009366" +BMGC_DS01153,BMG_DS001479,UMLS ID:C0020295 | hydronephrosis | MONDO:0005510 | MeSH ID:D006869 | SNOMEDCT ID:43064006 | DOID:11111 | Hydronephrosis (disorder) | Hydronephrosis | OMIM ID:MTHU001611 | SNOMEDCT ID:155866001 +BMGC_DS01154,BMG_DS001480,UMLS ID:C0020302 | MONDO:0020366 | DOID:11212 | hydrophthalmos | congenital glaucoma +BMGC_DS01155,BMG_DS001481,MeSH ID:D015160 | Hydrops Fetalis | UMLS ID:C0020305 | MONDO:0015193 | hydrops fetalis +BMGC_DS01156,BMG_DS001482,"ICD10 ID:J94.8 | Pleural, diaphragm or mediastinal disorders, unspecified | Hydrothorax | Hemothorax | UMLS ID:C0020312 | OMIM ID:MTHU037917 | Pleural effusion with transudate | SNOMEDCT ID:155608000 | Haemothorax | SNOMEDCT ID:266407006 | SNOMEDCT ID:79231000 | (Pleural effusion NOS) or (haemothorax) or (hydrothorax) (disorder) | Hydrothorax (disorder) | (Pleural effusion NOS) or (haemothorax) or (hydrothorax) | ICD11 ID:CB2Z | MeSH ID:D006876 | Pleural effusion NOS | (Pleural effusion NOS) or (hemothorax) or (hydrothorax)" +BMGC_DS01157,BMG_DS001483,UMLS ID:C0020413 | hymenolepiasis | MONDO:0005802 | Dwarf tapeworm infection | Rat tapeworm infection | Hymenolepiasis (& [dwarf] or [rat]) (disorder) | ICD11 ID:1F74 | DOID:10074 | SNOMEDCT ID:44917000 | Hymenolepiasis (& [dwarf] or [rat]) | ICD10 ID:B71.0 | Hymenolepiasis (disorder) | SNOMEDCT ID:187153007 | Hymenolepiosis | MeSH ID:D006925 | Hymenolepiasis +BMGC_DS01158,BMG_DS001484,Hyperaldosteronism (& [Bartter's syndrome] or [Conn's syndrome]) (disorder) | UMLS ID:C0020428 | MeSH ID:D006929 | SNOMEDCT ID:88213004 | SNOMEDCT ID:154709005 | Waterhouse-Friderichen | ICD10 ID:E26 | SNOMEDCT ID:267484005 | DOID:446 | hyperaldosteronism | Bartter's syndrome | Aldosteronism | MONDO:0003009 | Aldosteronism (disorder) | OMIM ID:MTHU038571 | Adrenal disorders: [other] or [Conn's syndrome] or [hyperaldosteronism] or [Waterhouse-Friderichen] (disorder) | SNOMEDCT ID:190506003 | Hyperaldosteronism | Adrenal disorders: [other] or [Conn's syndrome] or [hyperaldosteronism] or [Waterhouse-Friderichen] | primary hyperaldosteronism | Other adrenal disorders | Conn's syndrome | Hyperaldosteronism (& [Bartter's syndrome] or [Conn's syndrome]) +BMGC_DS01159,BMG_DS001485,Hyperbilirubinemia | bilirubin metabolic disorder | Hyperbilirubinaemia (& [Gilbert's syndrome]) (disorder) | DOID:2741 | UMLS ID:C0020433 | Gilbert's syndrome | Hyperbilirubinemia (disorder) | SNOMEDCT ID:235904007 | SNOMEDCT ID:14783006 | Bilirubinaemia | Hyperbilirubinemia (& [Gilbert's syndrome]) | Bilirubinemia | Hyperbilirubinaemia (& [Gilbert's syndrome]) | SNOMEDCT ID:267509000 | Hyperbilirubinaemia | MeSH ID:D006932 | SNOMEDCT ID:154770008 +BMGC_DS01160,BMG_DS001486,"bilirubin metabolic disorder | DOID:2741 | UMLS ID:C0020435 | MeSH ID:D006933 | Hyperbilirubinemia, Hereditary | MONDO:0002408 | hereditary hyperbilirubinemia" +BMGC_DS01161,BMG_DS001487,"hypercalcemia disease | Phosphorus disorder | Phosphorus, calcium disorders | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | hypercalcemia | UMLS ID:C0020437 | MONDO:0001566 | Hypercalcemia syndrome | Hypercalcemia (disorder) | DOID:12678 | ICD10 ID:E83.52 | Hypercalcinuria | Hypocalcemia | Hypercalcaemia syndrome | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder) | Hypercalcemia | Hypocalcaemia | MeSH ID:D006934 | SNOMEDCT ID:66931009 | Nephrocalcinosis | Hypercalcaemia | SNOMEDCT ID:154752005 | SNOMEDCT ID:267505006 | (Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Calcium disorder | Phosphorus and calcium disorders" +BMGC_DS01162,BMG_DS001488,Cementation hyperplasia | Cementum hyperplasia | Hypercementosis (disorder) | MONDO:0006790 | DOID:12733 | ICD10 ID:K03.4 | Cementosis | Cementum dysplasia | MeSH ID:D006936 | Hypercementosis | ICD11 ID:DA07.5 | SNOMEDCT ID:78537008 | hypercementosis | UMLS ID:C0020441 +BMGC_DS01163,BMG_DS001489,SNOMEDCT ID:267500001 | SNOMEDCT ID:154740003 | (Hypercholesterolemia: [pure] or [familial]) or (xanthoma - congenital) | OMIM ID:MTHU030735 | Cholesterolaemia-famil. | Hypercholesterolemia | High cholesterol | Pure hypercholesterolaemia | UMLS ID:C0020443 | Hypercholesterolaemia | Pure hypercholesterolemia | MeSH ID:D006937 | Xanthoma - congenital | (Hypercholesterolaemia: [pure] or [familial]) or (xanthoma - congenital) (disorder) | (Hypercholesterolaemia: [pure] or [familial]) or (xanthoma - congenital) | Hypercholesterolemia (disorder) | Congenital xanthoma | SNOMEDCT ID:13644009 +BMGC_DS01164,BMG_DS001490,"MONDO:0005439 | Hypercholesterolemia, Familial | MeSH ID:D006938 | UMLS ID:C0020445 | DOID:13810 | familial hypercholesterolemia | Hyperlipoproteinemia Type II" +BMGC_DS01165,BMG_DS001491,hyperemesis gravidarum | UMLS ID:C0020450 | MONDO:0006791 +BMGC_DS01166,BMG_DS001493,SNOMEDCT ID:247441003 | SNOMEDCT ID:30098003 | Erythema (finding) | Hyperemia (morphologic abnormality) | Engorgement | Vascular engorgement | Erythema | UMLS ID:C0020452 | OMIM ID:MTHU054354 | Erythema - observation | MeSH ID:D006940 | Hyperemia | Hyperaemia | Local congestion +BMGC_DS01167,BMG_DS001495,Hypergammaglobulinemia | SNOMEDCT ID:191396003 | MeSH ID:D006942 | SNOMEDCT ID:267571003 | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinemia) | Other blood diseases | OMIM ID:MTHU032383 | UMLS ID:C0020455 | Erythrocytosis - familial | Familial erythrocytosis | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) | SNOMEDCT ID:127388009 | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) (disorder) | Hypergammaglobulinemia (finding) | Hypergammaglobulinaemia | SNOMEDCT ID:154840005 +BMGC_DS01168,BMG_DS001496,DOID:4195 | MeSH ID:D006943 | (Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycaemia) (procedure) | Blood sugar result | Hyperglycemia (disorder) | Hyperglycaemia (disorder) | Hyperglycemia | hyperglycemia | Glucose result - blood | UMLS ID:C0020456 | OMIM ID:MTHU002042 | (Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycemia) | (Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycaemia) | Hyperglycaemia | Blood glucose result | Sugar result - blood | MONDO:0002909 | SNOMEDCT ID:154719004 | SNOMEDCT ID:270004003 | SNOMEDCT ID:80394007 | SNOMEDCT ID:144187006 | Plasma glucose level +BMGC_DS01169,BMG_DS001497,Hyperglycemic Hyperosmolar Nonketotic Coma | MeSH ID:D006944 | UMLS ID:C0020457 +BMGC_DS01170,BMG_DS001498,Zollinger-Ellison syndrome | Hyperinsulinaemia | Hyperinsulinemia | MeSH ID:D006946 | hyperinsulinism | Hyperinsulinism (disorder) | Other pancreatic secretion dis | Zollinger - Ellison syndrome | SNOMEDCT ID:267477002 | Zollinger-Ellison syndr | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) | DOID:2018 | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) (disorder) | SNOMEDCT ID:83469008 | SNOMEDCT ID:154694003 | Hyperinsulinism | MONDO:0002177 | UMLS ID:C0020459 +BMGC_DS01171,BMG_DS001499,SNOMEDCT ID:154739000 | hyperlipidemia | familial hyperlipidemia | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidaemia]) (disorder) | MONDO:0021187 | HLD - Hyperlipidemia | MeSH ID:D006949 | Lipidaemia | Hyperlipidemias | Hyperlipidemia | SNOMEDCT ID:55822004 | Fredrickson types | UMLS ID:C0020473 | DOID:1168 | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidemia]) | Disorders of lipid metabolism | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidaemia]) | Lipid metabol. disorder | Lipidemia | Disorder of lipid metabolism | OMIM ID:MTHU002043 | HLD - Hyperlipidaemia | Hyperlipidemia (disorder) | SNOMEDCT ID:267499005 | Hyperlipidaemia +BMGC_DS01172,BMG_DS001500,"obsolete familial combined hyperlipidemia | hyperlipidemia, familial combined, LPL related | Hyperlipidemia, Familial Combined | OMIM ID:144250 | DOID:13809 | MeSH ID:D006950 | familial combined hyperlipidemia | MONDO:0001807;MONDO:0007759 | UMLS ID:C0020474" +BMGC_DS01173,BMG_DS001501,MONDO:0037748 | hyperlipoproteinemia | Hyperlipoproteinemias | DOID:1168 | familial hyperlipidemia | MeSH ID:D006951 | UMLS ID:C0020476 +BMGC_DS01174,BMG_DS001502,DOID:3145 | UMLS ID:C0020479 | Hyperlipoproteinemia Type III | MeSH ID:D006952 | hyperlipoproteinemia type III | hyperlipoproteinemia type 3 | MONDO:0018473 | OMIM ID:617347 +BMGC_DS01175,BMG_DS001503,MONDO:0007761 | OMIM ID:144600 | hyperlipoproteinemia type IV | MeSH ID:D006953 | obsolete hyperlipoproteinemia type IV | UMLS ID:C0020480 | Hyperlipoproteinemia Type IV | DOID:1172 +BMGC_DS01176,BMG_DS001504,MeSH ID:D006954 | MONDO:0007762 | Hyperlipoproteinemia Type V | DOID:1171 | hyperlipoproteinemia type V | OMIM ID:144650 | UMLS ID:C0020481 +BMGC_DS01177,BMG_DS001505,OMIM ID:MTHU007803 | SNOMEDCT ID:190879002 | Hyperosmolality and or hypernatraemia | Hypernatremia | SNOMEDCT ID:771115008 | Hypernatremia (disorder) | Sodium retention | Hypernatraemia | Na excess | Sodium overload | Hyperosmolality &/or hypernatremia | Na overload | Hyperosmolality and or hypernatremia | Hyperosmolality &/or hypernatraemia | MeSH ID:D006955 | SNOMEDCT ID:39355002 | Hyperosmolality &/or hypernatraemia (disorder) | UMLS ID:C0020488 +BMGC_DS01178,BMG_DS001506,Longsighted | MONDO:0004891 | UMLS ID:C0020490 | Hypermetropia (disorder) | Longsightedness | hyperopia | OMIM ID:MTHU036505 | Farsightedness | DOID:9834 | Hypermetropia | Hyperopia | MeSH ID:D006956 | SNOMEDCT ID:38101003 +BMGC_DS01179,BMG_DS001507,hyperostosis | MONDO:0002185 | OMIM ID:MTHU036636 | Hypertrophy of bone | DOID:205 | SNOMEDCT ID:13814009 | Bony overgrowth | Hypertrophy of bone (morphologic abnormality) | UMLS ID:C0020492 | MeSH ID:D015576 | Hyperostosis +BMGC_DS01180,BMG_DS001509,sclerosteosis 1 | DOID:0060756;DOID:0060757 | SNOMEDCT ID:17401000119104 | Hyperostosis of skull | ICD11 ID:FB80.3 | SNOMEDCT ID:788954009 | ICD10 ID:M85.2 | Hyperostosis of skull (finding) | Hyperostosis of skull (disorder) | SNOMEDCT ID:12138000 | sclerosteosis 2 | Skull enlargement | UMLS ID:C0020496 | Large head | Large skull | Large head (disorder) +BMGC_DS01181,BMG_DS001510,"Caffey disease | UMLS ID:C0020497 | MONDO:0007244 | OMIM ID:114000 | DOID:4257 | Cortical Congenital Hyperostosis | MeSH ID:D006958 | Hyperostosis, Cortical, Congenital" +BMGC_DS01182,BMG_DS001511,"diffuse idiopathic skeletal hyperostosis | MeSH ID:D004057 | MONDO:0007127 | Hyperostosis, Diffuse Idiopathic Skeletal | UMLS ID:C0020498 | DOID:6652" +BMGC_DS01183,BMG_DS001513,MeSH ID:D006959 | UMLS ID:C0020500 | ICD10 ID:R82.992 | OMIM ID:MTHU037859 | Hyperoxaluria (disorder) | primary hyperoxaluria | Hyperoxaluria | SNOMEDCT ID:367621000119107 | DOID:2977 +BMGC_DS01184,BMG_DS001514,"Primary Hyperoxaluria | MONDO:0002474 | primary hyperoxaluria | Hyperoxaluria, Primary | UMLS ID:C0020501 | DOID:2977 | MeSH ID:D006960" +BMGC_DS01185,BMG_DS001515,hyperparathyroidism | MeSH ID:D006961 | SNOMEDCT ID:190451000 | Hyperparathyroidism (& [osteitis fibrosa cystica] or [Von Recklinghausen's bone disease]) (disorder) | MONDO:0001741 | SNOMEDCT ID:66999008 | Osteitis fibrosa cystica | SNOMEDCT ID:154696001 | Hyperparathyroidism (& [osteitis fibrosa cystica] or [Von Recklinghausen's bone disease]) | HPTH - Hyperparathyroidism | Hyperparathyroidism | UMLS ID:C0020502 | Hyperparathyroidism (disorder) | DOID:13543 | Von Recklinghausen's bone disease | OMIM ID:MTHU036868 +BMGC_DS01186,BMG_DS001516,"MeSH ID:D006962 | MONDO:0006964 | UMLS ID:C0020503 | DOID:12466 | secondary hyperparathyroidism | Hyperparathyroidism, Secondary" +BMGC_DS01187,BMG_DS001517,hyperpituitarism | Hyperpituitarism | Anterior pituitary hyperfunction | DOID:2444 | Pituitary hyperfunction | UMLS ID:C0020506 | MONDO:0006793 | Pituitary hyperfunction (ant.) | SNOMEDCT ID:10649000 | Hyperpituitarism (disorder) | MeSH ID:D006964 +BMGC_DS01188,BMG_DS001518,UMLS ID:C0020507 | MONDO:0005043 | hyperplasia +BMGC_DS01189,BMG_DS001519,MONDO:0005804 | Idiopathic hyperprolactinaemia | ICD10 ID:E22.1 | Hyperprolactinemia (disorder) | UMLS ID:C0020514 | hyperprolactinemia | SNOMEDCT ID:190468001 | SNOMEDCT ID:21170004 | MeSH ID:D006966 | ICD11 ID:5A60.1 | SNOMEDCT ID:237662005 | Hyperprolactinaemia | Idiopathic hyperprolactinemia | Idiopathic hyperprolactinemia (disorder) | OMIM ID:MTHU037102 | DOID:12700 | Hyperprolactinaemia (disorder) | Hyperprolactinemia +BMGC_DS01190,BMG_DS001520,MONDO:0005271 | UMLS ID:C0020517 | allergic disease | DOID:1205 +BMGC_DS01191,BMG_DS001521,type IV hypersensitivity disease | UMLS ID:C0020522 | MONDO:0002459 +BMGC_DS01192,BMG_DS001522,Sleep Apnea Syndromes | Hypersomnia with Periodic Respiration | UMLS ID:C0020529 | MeSH ID:D012891 +BMGC_DS01193,BMG_DS001523,Splenic infarct | ICD11 ID:3B81.B | Big spleen syndrome | Dyssplenism | Hypersplenism (disorder) | hypersplenism | Diseases of spleen (& [hypersplenism] or [infarct]) (disorder) | ICD10 ID:D73.1 | OMIM ID:MTHU037461 | Diseases of spleen (& [hypersplenism] or [infarct]) | UMLS ID:C0020532 | MONDO:0006795 | SNOMEDCT ID:58381000 | Hypersplenia | MeSH ID:D006971 | SNOMEDCT ID:267570002 | Spleen disease | Hypersplenism | Diseases of spleen | DOID:6376 | SNOMEDCT ID:154839008 +BMGC_DS01194,BMG_DS001524,"DOID:10763 | MONDO:0005044 | Hypertensive disease (disorder) | SNOMEDCT ID:194756002 | HBP - High blood pressure | Hypertensive vascular disease | High blood pressure | hypertensive disorder | Hypertensive vascular degeneration | HT - Hypertension | SNOMEDCT ID:266287006 | BP - High blood pressure | Hypertensive disorder, systemic arterial (disorder) | UMLS ID:C0020538 | BP+ - Hypertension | Hypertensive disease | SNOMEDCT ID:155295004 | Systemic arterial hypertension | (Hypertensive disease) or (hypertension) (disorder) | HTN - Hypertension | SNOMEDCT ID:38341003 | Hypertensive disorder, systemic arterial | Hypertensive disorder | High blood pressure disorder | (Hypertensive disease) or (hypertension) | Hypertension | hypertension" +BMGC_DS01195,BMG_DS001525,"MeSH ID:D006974 | Hypertension, Malignant | UMLS ID:C0020540 | Malignant Hypertension | malignant hypertension | MONDO:0006846 | DOID:10824" +BMGC_DS01196,BMG_DS001526,"portal hypertension | Portal Hypertension | MeSH ID:D006975 | DOID:10762 | UMLS ID:C0020541 | MONDO:0005080 | Hypertension, Portal" +BMGC_DS01197,BMG_DS001527,UMLS ID:C0020542 | pulmonary hypertension | DOID:6432 | MONDO:0005149 +BMGC_DS01198,BMG_DS001528,MONDO:0001105 | DOID:1073 | (Renal hypertension) or (hypertensive renal disease NOS) (disorder) | (Renal hypertension) or (hypertensive renal disease NOS) | SNOMEDCT ID:28119000 | Hypertensive renal disease NOS | Renal hypertension (disorder) | UMLS ID:C0020544 | renal hypertension | Renal hypertension | SNOMEDCT ID:194775007 +BMGC_DS01199,BMG_DS001529,"UMLS ID:C0020545 | MeSH ID:D006978 | DOID:1591 | renovascular hypertension | Hypertension, Renovascular | MONDO:0006947" +BMGC_DS01200,BMG_DS001530,"Hyperthyroidism | MeSH ID:D006980 | OMIM ID:MTHU001214 | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] (disorder) | SNOMEDCT ID:154655004 | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) | Hyperthyroidism (disorder) | Toxic goitre | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) (disorder) | DOID:7998 | SNOMEDCT ID:267464006 | Goitre - toxic | Toxic goiter | MONDO:0004425 | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] | UMLS ID:C0020550 | Nodule - thyroid, toxic | Thyrotoxicosis | Thyrotoxicosis: [+/- goiter] or [toxic goiter] or [Graves disease] or [thyroid nodule] | hyperthyroidism | Thyrotoxicosis +/- goiter | Graves' disease | SNOMEDCT ID:34486009 | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goiter) | Goiter - toxic | Thyrotoxicosis +/- goitre | Graves disease | Toxic thyroid nodule | SNOMEDCT ID:190239004" +BMGC_DS01201,BMG_DS001531,MeSH ID:D006981 | Hyperthyroxinemia | hyperthyroxinemia | UMLS ID:C0020551 | DOID:2855 | MONDO:0005333 +BMGC_DS01202,BMG_DS001532,SNOMEDCT ID:156409007 | Hirsutism - hypertrichosis | hypertrichosis | UMLS ID:C0020555 | SNOMEDCT ID:201164001 | OMIM ID:MTHU036754 | Polytrichia | Hypertrichiasis | MONDO:0019280 | MeSH ID:D006983 | DOID:420 | Polytrichosis | Hypertrichosis (disorder) | Excessive hairiness | SNOMEDCT ID:29966009 | ICD10 ID:L68 | Hypertrichosis +BMGC_DS01203,BMG_DS001533,Hypertriglyceridaemia | UMLS ID:C0020557 | Hypertriglyceridemia (disorder) | SNOMEDCT ID:302870006 | Hypertriglyceridemia | MeSH ID:D015228 +BMGC_DS01204,BMG_DS001534,Hypertrophic elongation of cervix (disorder) | hypertrophic elongation of cervix | UMLS ID:C0020561 | MONDO:0002255 | Hypertrophic elongation of cervix | SNOMEDCT ID:198353000 | DOID:2251 | SNOMEDCT ID:35863000 +BMGC_DS01205,BMG_DS001535,DOID:10688 | hypertrophy of breast | UMLS ID:C0020565 | MONDO:0001100 +BMGC_DS01206,BMG_DS001536,MeSH ID:D013285 | hypertropia | SNOMEDCT ID:40608009 | UMLS ID:C0020575 | DOID:9837 | ICD10 ID:H50.2 | Strabismus | OMIM ID:MTHU037273 | Hypertropia | Vertical or torsional strabismus | MONDO:0004893 | Hypertropia (disorder) | ICD11 ID:9C80.2 +BMGC_DS01207,BMG_DS001537,ICD11 ID:5B90.0 | DOID:9972 | hypervitaminosis A | ICD10 ID:E67.0 | MONDO:0006798 | Hypervitaminosis A (disorder) | UMLS ID:C0020579 | SNOMEDCT ID:64559002 | Hypervitaminosis A | MeSH ID:D006986 +BMGC_DS01208,BMG_DS001539,hypoactive sexual desire disorder | MONDO:0001821 | DOID:13868 | UMLS ID:C0020594 +BMGC_DS01209,BMG_DS001540,Aldosterone deficiency | Hypoaldosteronism | ICD10 ID:E27.40 | OMIM ID:MTHU041707 | SNOMEDCT ID:60086000 | Aldosterone deficiency (disorder) | UMLS ID:C0020595 | MeSH ID:D006994 +BMGC_DS01210,BMG_DS001541,Hypobetalipoproteinemias | hypobetalipoproteinemia | MeSH ID:D006995 | MONDO:0017774 | UMLS ID:C0020597 | DOID:1390 +BMGC_DS01211,BMG_DS001542,"Phosphorus disorder | Phosphorus, calcium disorders | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | OMIM ID:MTHU036379 | ICD10 ID:E83.51 | MeSH ID:D006996 | Hypocalcemia (disorder) | UMLS ID:C0020598 | Hypercalcinuria | Hypocalcaemia syndrome | Hypocalcemia | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder) | Hypercalcemia | Hypocalcaemia | Hypercalcaemia | Nephrocalcinosis | Hypocalcemia syndrome | SNOMEDCT ID:154752005 | SNOMEDCT ID:267505006 | (Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Calcium disorder | Calcium deficiency disease | Phosphorus and calcium disorders | SNOMEDCT ID:5291005" +BMGC_DS01212,BMG_DS001543,OMIM ID:MTHU017734 | Hypocalciuria | Hypocalciuria (disorder) | UMLS ID:C0020599 | SNOMEDCT ID:86353007 +BMGC_DS01213,BMG_DS001544,MONDO:0001596 | hypochondriasis | DOID:12883 | UMLS ID:C0020604 +BMGC_DS01214,BMG_DS001545,UMLS ID:C0020607 | hypodermyiasis | Hypodermyiasis | MeSH ID:D007000 | DOID:12926 | MONDO:0005805 +BMGC_DS01215,BMG_DS001546,MONDO:0005486 | tooth agenesis | UMLS ID:C0020608 +BMGC_DS01216,BMG_DS001547,Hypogalactia | Decreased lactation | SNOMEDCT ID:199004 | Poor lactation | ICD11 ID:JB46.4 | Inadequate lactation | MeSH ID:D007775 | Hypolactation | Insufficient lactation | UMLS ID:C0020610 | Decreased lactation (finding) | Lactation Disorders | ICD10 ID:O92.4 +BMGC_DS01217,BMG_DS001548,Hypoglycemia | OMIM ID:MTHU000371 | SNOMEDCT ID:66694000 | MONDO:0004946 | DOID:9993 | SNOMEDCT ID:302866003 | Hypoglycaemia (disorder) | MeSH ID:D007003 | Hypoglycaemia | Hypoglycemia (disorder) | UMLS ID:C0020615 | hypoglycemia | SNOMEDCT ID:154691006 +BMGC_DS01218,BMG_DS001549,Coma: [hypoglycemic] or [insulin] | Coma due to hypoglycemia (disorder) | SNOMEDCT ID:267476006 | SNOMEDCT ID:267384006 | Hypoglycemic coma (disorder) | Hypoglycaemic coma (& [insulin]) | Hypoglycemic coma | Hypoglycaemic coma (& [insulin]) (disorder) | UMLS ID:C0020617 | DOID:1607 | Insulin coma | Coma: [hypoglycaemic] or [insulin] (disorder) | Coma - insulin | Coma due to hypoglycaemia | hypoglycemic coma | Coma due to hypoglycemia | Hypoglycaemic coma | SNOMEDCT ID:154692004 | Hypoglycemic coma (& [insulin]) | SNOMEDCT ID:190428000 | SNOMEDCT ID:71898001 | Coma: [hypoglycaemic] or [insulin] +BMGC_DS01219,BMG_DS001550,UMLS ID:C0020619 | MONDO:0002146 | Hypogonadism | SNOMEDCT ID:48130008 | Hypogonadism (disorder) | DOID:1924 | OMIM ID:MTHU000132 | MeSH ID:D007006 | hypogonadism +BMGC_DS01220,BMG_DS001551,"Hypohydrosis | MeSH ID:D007007 | DOID:11155 | UMLS ID:C0020620 | SNOMEDCT ID:45004005 | SNOMEDCT ID:201189007 | (Anhidrosis) or (hypohidrosis) or (oligohidrosis) | Hypohidrosis (disorder) | Hypohidrosis | obsolete hypohidrosis | Hypohidrosis, unspecified | Anhidrosis | OMIM ID:MTHU036385 | ICD10 ID:L74.4 | (Anhidrosis) or (hypohidrosis) or (oligohidrosis) (disorder) | Oligohidrosis | MONDO:0006560 | hypohidrosis | ICD11 ID:EE01.Z" +BMGC_DS01221,BMG_DS001552,MONDO:0001822 | DOID:1387 | hypolipoproteinemia | UMLS ID:C0020623 +BMGC_DS01222,BMG_DS001553,Scanty period | (Hypomenorrhoea) or (scanty periods) | UMLS ID:C0020624 | Hypomenorrhea | Hypomenorrhea (finding) | (Hypomenorrhea) or (scanty periods) | Menstruation Disturbances | MeSH ID:D008599 | SNOMEDCT ID:156041006 | Hypomenorrhoea | Scanty periods | SNOMEDCT ID:266669004 | Spotting only at periods | SNOMEDCT ID:64206003 | Light menstrual period | (Hypomenorrhoea) or (scanty periods) (finding) | (Hypomenorrhoea) or (scanty periods) (disorder) +BMGC_DS01223,BMG_DS001554,Hyposmolality and or hyponatraemia | Hypo-osmolality and or hyponatremia | SNOMEDCT ID:267507003 | Sodium deficiency | Hyponatremia (finding) | SNOMEDCT ID:154756008 | SNOMEDCT ID:89627008 | (Sodium deficiency) or (hyponatraemia) (disorder) | Hyponatraemia | UMLS ID:C0020625 | Hyposmolality &/or hyponatraemia | OMIM ID:MTHU000164 | SNOMEDCT ID:190880004 | Hyposmolality &/or hyponatraemia (disorder) | Hyponatremia | MeSH ID:D007010 | (Sodium deficiency) or (hyponatraemia) | (Sodium deficiency) or (hyponatremia) | Hypo-osmolality and or hyponatraemia | Hyposmolality &/or hyponatremia | Hyposmolality and or hyponatremia +BMGC_DS01224,BMG_DS001555,UMLS ID:C0020626 | DOID:11199 | ICD10 ID:E20 | MeSH ID:D007011 | MONDO:0001220 | Deficiency of parathyroid hormone | Hypoparathyroidism | Pseudo-hypoparathyroidism | (Hypoparathyroidism) or (pseudo-hypoparathyroidism) or (tetany) | SNOMEDCT ID:36976004 | Deficiency of parathyrin | Tetany | Hypoparathyroidism (disorder) | Deficiency of PTH (parathyroid hormone) | SNOMEDCT ID:154697005 | OMIM ID:MTHU006713 | SNOMEDCT ID:267479004 | (Hypoparathyroidism) or (pseudo-hypoparathyroidism) or (tetany) (disorder) | hypoparathyroidism +BMGC_DS01225,BMG_DS001557,ICD10 ID:E83.39 | hypophosphatasia | DOID:14213 | SNOMEDCT ID:70848009 | MONDO:0018570 | SNOMEDCT ID:190859005 | MeSH ID:D007014 | Alkaline phosphatase deficiency | Hypophosphatasia (disorder) | Hypophosphatasia | UMLS ID:C0020630 +BMGC_DS01226,BMG_DS001559,MONDO:0005152 | hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | UMLS ID:C0020635 | 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 | Deficient secretion of one OR more pituitary hormones | Pituitary hypofunction | Hypopituitarism | 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 | 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 | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 1 with or without anosmia | MeSH ID:D007018 | Hypopituitarism (disorder) | hypogonadotropic hypogonadism 15 with or without anosmia | Pituitary insufficiency | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | SNOMEDCT ID:74728003 | hypogonadotropic hypogonadism 13 with or without anosmia | ICD10 ID:E23.0 | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | Pituitary deficiency | ICD11 ID:5A61.0 | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia | Pituitary failure | OMIM ID:MTHU036880 +BMGC_DS01227,BMG_DS001560,Plasma protein metab. disorder | Hyperproteinemia | SNOMEDCT ID:267503004 | Waldenstrom's macroglob'naemia | (Plasma protein metabolism disorder: & [hyperproteinemia] or [hypoproteinemia]) or (Waldenstrom's macroglobulinemia) | Hypoproteinaemia | Waldenstrom's macroglobulinaemia | UMLS ID:C0020639 | Hypoproteinemia (disorder) | Hyperproteinaemia | (Plasma protein metabolism disorder: & [hyperproteinaemia] or [hypoproteinaemia]) or (Waldenstrom's macroglobulinaemia) | MeSH ID:D007019 | OMIM ID:MTHU001376 | SNOMEDCT ID:154750002 | (Plasma protein metabolism disorder: & [hyperproteinaemia] or [hypoproteinaemia]) or (Waldenstrom's macroglobulinaemia) (disorder) | Waldenstrom's macroglobulinemia | SNOMEDCT ID:8900005 | Hypoproteinemia +BMGC_DS01228,BMG_DS001561,ICD10 ID:H20.05 | UMLS ID:C0020641 | SNOMEDCT ID:87807004 | DOID:10443 | Hypopyon (disorder) | Pus in anterior chamber | hypopyon | Hypopyon | MONDO:0001036 +BMGC_DS01229,BMG_DS001562,MONDO:0005468 | hypotensive disorder | UMLS ID:C0020649 +BMGC_DS01230,BMG_DS001563,"UMLS ID:C0020651 | MONDO:0005469 | orthostatic hypotension | MeSH ID:D007024 | Hypotension, Orthostatic" +BMGC_DS01231,BMG_DS001564,hypothalamic disease | Hypothalamic Diseases | UMLS ID:C0020655 | hypothalamic disorder | MONDO:0002150 | MeSH ID:D007027 | DOID:1931 +BMGC_DS01232,BMG_DS001565,MONDO:0006799 | UMLS ID:C0020659 | hypothalamic neoplasm | DOID:3644 +BMGC_DS01233,BMG_DS001566,SNOMEDCT ID:237572004 | SNOMEDCT ID:190274003 | SNOMEDCT ID:40930008 | Hypothyroidism-congen.+ acqui. | Myxoedema | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) (disorder) | Cretinism | Thyroid deficiency | Acquired hypothyroidism | UMLS ID:C0020676 | Hypothyroidism (disorder) | Hypothyroidism | MONDO:0005420 | Myxedema | Hypothyroidism - congenital and acquired (& [cretinism] or [myxedema]) | SNOMEDCT ID:154660000 | OMIM ID:MTHU002670 | Hypothyroidism: &/or (acquired) | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) | DOID:1459 | MeSH ID:D007037 | Hypothyroidism: &/or (acquired) (disorder) | Hypothyroidism - congenital and acquired | SNOMEDCT ID:267465007 | hypothyroidism | Hypothyroid +BMGC_DS01234,BMG_DS001567,Hypotrichosis (disorder) | MONDO:0003037 | MeSH ID:D007039 | SNOMEDCT ID:53602002 | hypotrichosis | UMLS ID:C0020678 | OMIM ID:MTHU002744 | DOID:4535 | Hypotrichosis +BMGC_DS01235,BMG_DS001569,MeSH ID:D009081 | Type II Mucolipidosis | UMLS ID:C0020725 | Mucolipidoses +BMGC_DS01236,BMG_DS001570,Iatrogenic Disease | MONDO:0043543 | MeSH ID:D007049 | UMLS ID:C0020732 | iatrogenic disease +BMGC_DS01237,BMG_DS001571,MeSH ID:D007057 | MONDO:0019269 | DOID:1697 | Ichthyosis | UMLS ID:C0020757 | ichthyosis | Ichthyoses +BMGC_DS01238,BMG_DS001572,Congenital ichthyosis of skin (disorder) | Congenital ichthyosis | Fish skin | Congenital ichthyosis of skin | ICD10 ID:Q80 | UMLS ID:C0020758 | SNOMEDCT ID:13059002 | Fish scale disease | OMIM ID:MTHU055329 | Ichthyosis congenita +BMGC_DS01239,BMG_DS001573,MeSH ID:D011504 | Idiopathic Hypercatabolic Hypoproteinemia | Protein-Losing Enteropathies | UMLS ID:C0020800 +BMGC_DS01240,BMG_DS001574,pulmonary hemosiderosis | DOID:12118 | Brown induration of lung | SNOMEDCT ID:190848001 | IPH - Idiopathic pulmonary hemosiderosis | Pulmonary hemosiderosis | UMLS ID:C0020807 | Idiopathic pulmonary haemosiderosis | Idiopathic pulmonary hemosiderosis (disorder) | Idiopathic pulmonary hemosiderosis | Pulmonary haemosiderosis | Idiopathic pulmonary haemosiderosis (disorder) | MONDO:0008346 | OMIM ID:178550 | ICD10 ID:J84.03 | SNOMEDCT ID:40527005 | IPH - Idiopathic pulmonary haemosiderosis +BMGC_DS01241,BMG_DS001576,MONDO:0006801 | ileal neoplasm | DOID:10156 | UMLS ID:C0020876 | benign ileal neoplasm +BMGC_DS01242,BMG_DS001577,OMIM ID:MTHU063170 | SNOMEDCT ID:52457000 | UMLS ID:C0020877 | DOID:0060189 | Ileitis | Ileitis (disorder) | ileitis | MeSH ID:D007079 +BMGC_DS01243,BMG_DS001578,MONDO:0007004 | type III hypersensitivity disease | UMLS ID:C0020951 | MeSH ID:D007105 | hypersensitivity reaction type III disease | DOID:1557 | Immune Complex Diseases +BMGC_DS01244,BMG_DS001579,angioimmunoblastic T-cell lymphoma | MONDO:0004977 | UMLS ID:C0020981 | DOID:0111147 +BMGC_DS01245,BMG_DS001580,Immunologic Deficiency Syndromes | primary immunodeficiency disease | immunodeficiency disease | DOID:612 | MeSH ID:D007153 | MONDO:0021094 | UMLS ID:C0021051 +BMGC_DS01246,BMG_DS001581,immune system disorder | MONDO:0005046 | UMLS ID:C0021053 | MeSH ID:D007154 | Immune System Diseases +BMGC_DS01247,BMG_DS001582,DOID:2916 | MONDO:0021334 | immunoproliferative disorder | hypersensitivity reaction type IV disease | UMLS ID:C0021070 +BMGC_DS01248,BMG_DS001584,"UMLS ID:C0021099 | Impetigo contagiosa | impetigo | ICD11 ID:1B72.Z | DOID:8504 | Impetigo (disorder) | (Impetigo) or (pemphigus neonatorum) | SNOMEDCT ID:48277006 | MeSH ID:D007169 | OMIM ID:MTHU037496 | ICD10 ID:L01 | ICD10 ID:L01.0 | Pemphigus neonatorum | MONDO:0004592 | Impetigo | SNOMEDCT ID:267836006 | (Impetigo) or (pemphigus neonatorum) (disorder) | Impetigo, unspecified | SNOMEDCT ID:156319000" +BMGC_DS01249,BMG_DS001586,UMLS ID:C0021122 | MONDO:0001162 | DOID:10937 | impulse control disorder +BMGC_DS01250,BMG_DS001587,DOID:3401 | MeSH ID:D007177 | inappropriate ADH syndrome | Inappropriate ADH Syndrome | UMLS ID:C0021141 | MONDO:0006802 +BMGC_DS01251,BMG_DS001589,incontinentia pigmenti | UMLS ID:C0021171 | OMIM ID:308300 | Bloch-Sulzberger syndrome | MONDO:0010631 | DOID:12305 +BMGC_DS01252,BMG_DS001590,UMLS ID:C0021192 | Indeterminate leprosy | ICD11 ID:1B20.0 | Type I leprosy | Indeterminate leprosy (disorder) | SNOMEDCT ID:14386001 | indeterminate leprosy | DOID:11851 | MONDO:0001391 | Group I leprosy | Paucibacillary leprosy | ICD10 ID:A30.0 +BMGC_DS01253,BMG_DS001591,UMLS ID:C0021193 | pseudohermaphroditism | DOID:3765 +BMGC_DS01254,BMG_DS001592,UMLS ID:C0021280 | Infant Nutrition Disorders | MeSH ID:D007228 +BMGC_DS01255,BMG_DS001593,Neonatal disorder (disorder) | Neonatal disease | SNOMEDCT ID:22925008 | UMLS ID:C0021290 | Neonatal disorder +BMGC_DS01256,BMG_DS001594,"Infant, Premature, Diseases | UMLS ID:C0021295 | MeSH ID:D007235" +BMGC_DS01257,BMG_DS001595,Infection of kidney (& [pyelonephritis &/or pyelitis]) | Kidney infection | SNOMEDCT ID:266618004 | MONDO:0004369 | renal infectious disease | Infection of kidney | UMLS ID:C0021313 | Infection - kidney | Pyelonephritis/pyelitis | DOID:782 | Renal infection | Infection of kidney (& [pyelonephritis &/or pyelitis]) (disorder) +BMGC_DS01258,BMG_DS001597,Infectious inflammation of intestine | Infectious enteritis | Infective enteritis | UMLS ID:C0021342 | Infectious inflammation of intestine (disorder) | Infectious enteritis of intestine | OMIM ID:MTHU074762 | SNOMEDCT ID:55184003 +BMGC_DS01259,BMG_DS001598,Infectious Mononucleosis | DOID:8568 | MeSH ID:D007244 | infectious mononucleosis | UMLS ID:C0021345 | MONDO:0005810 +BMGC_DS01260,BMG_DS001599,Swimmers ear | UMLS ID:C0021355 | Infective otitis externa (disorder) | Infective otitis externa | (Infective otitis externa (& [cellulitis ear])) or (swimmers ear) | SNOMEDCT ID:267752002 | Cellulitis - ear | (Infective otitis externa (& [cellulitis ear])) or (swimmers ear) (disorder) | DOID:9463 | otitis externa | Infective OE (otitis externa) | Infective OE | SNOMEDCT ID:86981007 | SNOMEDCT ID:194198006 +BMGC_DS01261,BMG_DS001600,infertility | infertility disorder | DOID:5223 | UMLS ID:C0021359 | MONDO:0005047 +BMGC_DS01262,BMG_DS001601,MONDO:0001877 | UMLS ID:C0021360 | Infertility due to extratesticular cause (disorder) | SNOMEDCT ID:84245004 | DOID:14096 | Infertility due to extratesticular cause | infertility due to extratesticular cause | SNOMEDCT ID:198011008 +BMGC_DS01263,BMG_DS001602,female infertility | MONDO:0021124 | UMLS ID:C0021361 +BMGC_DS01264,BMG_DS001603,male infertility | SNOMEDCT ID:2904007 | SNOMEDCT ID:155924001 | Male infertility | OMIM ID:MTHU071905 | MONDO:0005372 | DOID:12336 | Male infertility (disorder) | ICD10 ID:N46 | UMLS ID:C0021364 +BMGC_DS01265,BMG_DS001604,UMLS ID:C0021390 | DOID:0050589 | MeSH ID:D015212 | Inflammatory Bowel Diseases | inflammatory bowel disease | MONDO:0005265 +BMGC_DS01266,BMG_DS001605,DOID:12105 | inflammatory spondylopathy | UMLS ID:C0021396 +BMGC_DS01267,BMG_DS001606,"SNOMEDCT ID:6142004 | Flu | Influenza | SNOMEDCT ID:155559006 | Grippe | Influenza (disorder) | influenza | MeSH ID:D007251 | Influenza, Human | MONDO:0005812 | DOID:8469 | UMLS ID:C0021400" +BMGC_DS01268,BMG_DS001608,infratentorial neoplasm | DOID:4706 | MONDO:0037736 | infratentorial cancer | UMLS ID:C0021432 +BMGC_DS01269,BMG_DS001609,Disorders of Environmental Origin | UMLS ID:C0021508 | MeSH ID:D007280 +BMGC_DS01270,BMG_DS001611,"UMLS ID:C0021603 | MeSH ID:D007319 | Sleep Initiation and Maintenance Disorders | MONDO:0024376 | sleep disorder, initiating and maintaining sleep" +BMGC_DS01271,BMG_DS001613,pancreatic insulinoma | insulinoma | UMLS ID:C0021670 | MONDO:0024677 | DOID:3892 +BMGC_DS01272,BMG_DS001614,UMLS ID:C0021775 | MeSH ID:D007383 | DOID:3669 | intermittent vascular claudication | intermittent claudication | MONDO:0005295 | Intermittent Claudication +BMGC_DS01273,BMG_DS001615,MONDO:0001521 | intermittent explosive disorder | DOID:12401 | UMLS ID:C0021776 +BMGC_DS01274,BMG_DS001617,MeSH ID:D007405 | UMLS ID:C0021818 | Intervertebral Disc Displacement | Intervertebral Disk Displacement +BMGC_DS01275,BMG_DS001619,intestinal atresia | MeSH ID:D007409 | DOID:10486 | UMLS ID:C0021828 | MONDO:0001045 | Intestinal Atresia +BMGC_DS01276,BMG_DS001620,DOID:9868 | UMLS ID:C0021830 | intestinal disaccharidase deficiency +BMGC_DS01277,BMG_DS001621,intestinal disorder | MONDO:0005020 | UMLS ID:C0021831 | intestinal disease | MeSH ID:D007410 | Intestinal Diseases | DOID:5295 +BMGC_DS01278,BMG_DS001622,"MONDO:0024270 | MeSH ID:D007411 | Intestinal Diseases, Parasitic | parasitic intestinal disorder | UMLS ID:C0021832" +BMGC_DS01279,BMG_DS001624,UMLS ID:C0021841 | intestinal benign neoplasm | DOID:4610 | intestinal neoplasm | MONDO:0021118 +BMGC_DS01280,BMG_DS001625,DOID:8437 | MONDO:0004565 | MeSH ID:D007415 | UMLS ID:C0021843 | intestinal obstruction | Intestinal Obstruction +BMGC_DS01281,BMG_DS001626,MeSH ID:D007416 | intestinal perforation | MONDO:0006807 | DOID:2074 | UMLS ID:C0021845 | Intestinal Perforation +BMGC_DS01282,BMG_DS001627,UMLS ID:C0021846 | intestinal polyp | MONDO:0005288 +BMGC_DS01283,BMG_DS001628,intestinal pseudo-obstruction | UMLS ID:C0021847 | DOID:0080072 | MeSH ID:D007418 | MONDO:0002803 | Intestinal Pseudo-Obstruction +BMGC_DS01284,BMG_DS001630,Intracranial abscess | SNOMEDCT ID:192738001 | intracranial abscess | MONDO:0000939 | Intracranial abscess (disorder) | SNOMEDCT ID:27614006 | Brain abscess | Intracranial abscess(& [brain]) | Intracranial abscess(& [brain]) (disorder) | DOID:10095 | UMLS ID:C0021874 +BMGC_DS01285,BMG_DS001632,"Intussusception (morphologic abnormality) | Diseases of the digestive system, unspecified | ICD10 ID:K56.1 | UMLS ID:C0021933 | MONDO:0007835 | OMIM ID:147710 | ICD11 ID:DE2Z | SNOMEDCT ID:155772009 | Intussusception | SNOMEDCT ID:35327006 | MeSH ID:D007443 | Intussusception (disorder) | OMIM ID:MTHU016100 | DOID:8446 | Introsusception | intussusception" +BMGC_DS01286,BMG_DS001637,SNOMEDCT ID:77971008 | MeSH ID:D015863 | Disorders of iris &/or ciliary body (& [iridocyclitis]) | OMIM ID:MTHU037137 | ICD10 ID:H20 | Disorders of iris and ciliary body | Iridocyclitis (disorder) | UMLS ID:C0022073 | SNOMEDCT ID:193481009 | Iridocyclitis | Ciliary body disorders | Disorders of iris &/or ciliary body (& [iridocyclitis]) (disorder) | MONDO:0004773 | iridocyclitis +BMGC_DS01287,BMG_DS001638,iris disease | iris disorder | MONDO:0002289 | DOID:240 | Iris Diseases | UMLS ID:C0022078 | MeSH ID:D007499 +BMGC_DS01288,BMG_DS001639,iris cancer | UMLS ID:C0022079 | DOID:3478 | MONDO:0021224 | iris neoplasm +BMGC_DS01289,BMG_DS001640,DOID:1406 | MONDO:0006814 | SNOMEDCT ID:65074000 | Iritis (disorder) | UMLS ID:C0022081 | MeSH ID:D007500 | iritis | Iritis | OMIM ID:MTHU026370 +BMGC_DS01290,BMG_DS001641,Irritable Bowel Syndrome | MeSH ID:D043183 | DOID:9778 | UMLS ID:C0022104 | MONDO:0005052 | irritable bowel syndrome +BMGC_DS01291,BMG_DS001642,UMLS ID:C0022116 | ischemia | ischemic disease | MONDO:0005053 | DOID:326 +BMGC_DS01292,BMG_DS001644,DOID:3892 | insulinoma | UMLS ID:C0022134 +BMGC_DS01293,BMG_DS001645,OMIM ID:300337 | DOID:3156 | hypomelanosis of Ito | UMLS ID:C0022283 | Ito hypomelanosis | MONDO:0010302 +BMGC_DS01294,BMG_DS001646,MeSH ID:D012640 | Jacksonian Seizure | Seizures | UMLS ID:C0022333 +BMGC_DS01295,BMG_DS001647,Jakob-Creutzfeldt disease (disorder) | UMLS ID:C0022336 | SNOMEDCT ID:155061007 | Creutzfeldt-Jakob disease | SNOMEDCT ID:792004 | CJD - Creutzfeldt-Jakob disease | Genetic CreutzfeldtJakob disease | JCD - Jakob-Creutzfeldt disease | ICD11 ID:8E02.0 | MONDO:0005357 | Creutzfeldt-Jakob disease (disorder) | DOID:11949 | ICD10 ID:A81.0 | Subacute spongiform encephalopathy | Jakob-Creutzfeldt disease | Creutzfeldt Jacob disease | Transmissible virus dementia +BMGC_DS01296,BMG_DS001648,MONDO:0015674 | MeSH ID:D009472 | Late-Infantile Neuronal Ceroid Lipofuscinosis | late infantile neuronal ceroid lipofuscinosis | Neuronal Ceroid-Lipofuscinoses | UMLS ID:C0022340 +BMGC_DS01297,BMG_DS001649,"MeSH ID:D007566 | Jaundice, Chronic Idiopathic | UMLS ID:C0022350 | OMIM ID:237500 | MONDO:0009380 | Dubin-Johnson syndrome | DOID:12308" +BMGC_DS01298,BMG_DS001650,neonatal jaundice | DOID:2383 | UMLS ID:C0022353 +BMGC_DS01299,BMG_DS001651,"MeSH ID:D041781 | DOID:13603 | Jaundice, Obstructive | UMLS ID:C0022354 | obstructive jaundice | MONDO:0006874" +BMGC_DS01300,BMG_DS001652,UMLS ID:C0022362 | Jaw Diseases | MeSH ID:D007571 +BMGC_DS01301,BMG_DS001653,UMLS ID:C0022364 | DOID:1862 | MONDO:0021580 | neoplasm of jaw | jaw cancer +BMGC_DS01302,BMG_DS001656,UMLS ID:C0022373 | MeSH ID:D007579 | Jejunal Diseases +BMGC_DS01303,BMG_DS001657,MONDO:0002564 | DOID:3218 | jejunal neoplasm | UMLS ID:C0022374 +BMGC_DS01304,BMG_DS001658,MONDO:0002441 | DOID:2842 | MeSH ID:D029593 | Jervell-Lange Nielsen syndrome | Jervell and Lange-Nielsen syndrome | Jervell-Lange Nielsen Syndrome | UMLS ID:C0022387 +BMGC_DS01305,BMG_DS001659,SNOMEDCT ID:8316001 | Joint disorders | (Arthritis/arthrosis) or (arthropathy) or (joint disorders) | Joint Diseases | OMIM ID:MTHU012515 | UMLS ID:C0022408 | SNOMEDCT ID:268051001 | SNOMEDCT ID:399269003 | Arthrosis | (Arthritis/arthrosis) or (arthropathy) or (joint disorders) (disorder) | Joint disease | Joint derangement | DOID:381 | Disorder of joint | Arthropathy | Joint disorder | MeSH ID:D007592 | Arthritis/arthrosis | arthropathy | Arthropathy (disorder) | MONDO:0006816 +BMGC_DS01306,BMG_DS001661,SNOMEDCT ID:15739006 | Juvenile osteochondrosis of hip AND/OR pelvis (disorder) | UMLS ID:C0022441 | Juvenile osteochondritis of hip AND/OR pelvis | Legg-Calve-Perthes disease | DOID:14415 | Juvenile osteochondrosis of hip AND/OR pelvis +BMGC_DS01307,BMG_DS001663,DOID:0050144 | UMLS ID:C0022521 | MeSH ID:D007619 | Kartagener syndrome | Kartagener Syndrome +BMGC_DS01308,BMG_DS001664,OMIM ID:530000 | Kearns-Sayre syndrome (disorder) | Kearns-Sayre syndrome | Kearns-Sayre mitochondrial cytopathy | Oculocraniosomatic syndrome | DOID:12934 | UMLS ID:C0022541 | MONDO:0010787 | Mitochondrial ocular myopathy | SNOMEDCT ID:25792000 | KSS - Kearns-Sayre syndrome | ICD10 ID:H49.81 +BMGC_DS01309,BMG_DS001665,MONDO:0005348 | UMLS ID:C0022548 | keloid +BMGC_DS01310,BMG_DS001666,UMLS ID:C0022568 | Keratitis | SNOMEDCT ID:193757003 | MONDO:0003085 | SNOMEDCT ID:155151002 | ICD10 ID:H16 | SNOMEDCT ID:5888003 | Keratoconjunctivitis | Keratitis &/or keratoconjunctivitis (disorder) | DOID:4677 | Keratitis &/or keratoconjunctivitis | Keratitis (disorder) | keratitis | MeSH ID:D007634 | OMIM ID:MTHU036935 +BMGC_DS01311,BMG_DS001667,"UMLS ID:C0022570 | MeSH ID:D007635 | Keratitis, Dendritic" +BMGC_DS01312,BMG_DS001668,MONDO:0002527 | keratoacanthoma | DOID:3149 | UMLS ID:C0022572 +BMGC_DS01313,BMG_DS001669,OMIM ID:MTHU036934 | Keratitis | SNOMEDCT ID:193757003 | DOID:9368 | Superficial keratitis with conjunctivitis | SNOMEDCT ID:155154005 | Other specified disorders of the cornea | ICD10 ID:H16.2 | MONDO:0004768 | Keratoconjunctivitis (disorder) | Keratoconjunctivitis | Keratitis &/or keratoconjunctivitis (disorder) | keratoconjunctivitis | Keratitis &/or keratoconjunctivitis | UMLS ID:C0022573 | MeSH ID:D007637 | ICD11 ID:9A7Y | SNOMEDCT ID:88151007 +BMGC_DS01314,BMG_DS001670,keratoconjunctivitis sicca | MeSH ID:D007638 | UMLS ID:C0022575 | DOID:12895 | xerophthalmia | MONDO:0000948 | Keratoconjunctivitis Sicca +BMGC_DS01315,BMG_DS001672,"vernal keratoconjunctivitis | Keratoconjunctivitis, Vernal | MeSH ID:D003233 | Conjunctivitis, Allergic | UMLS ID:C0022577 | MONDO:0019085" +BMGC_DS01316,BMG_DS001673,Cornea conical | (Keratoconus) or (corneal disorders NOS) | (Keratoconus) or (corneal disorders NOS) (disorder) | SNOMEDCT ID:65636009 | keratoconus | UMLS ID:C0022578 | MONDO:0015486 | DOID:10126 | Keratoconus | OMIM ID:MTHU036426 | ICD10 ID:H18.6 | Corneal disorder NOS | ICD11 ID:9A78.50 | SNOMEDCT ID:267733008 | SNOMEDCT ID:155160005 | Corneal disorders NOS | MeSH ID:D007640 | Keratoconus (disorder) +BMGC_DS01317,BMG_DS001675,acquired keratosis | acquired hyperkeratosis | UMLS ID:C0022581 | MONDO:0006522 | DOID:13072 +BMGC_DS01318,BMG_DS001676,"MeSH ID:D015776 | diffuse palmoplantar keratoderma | UMLS ID:C0022584 | MONDO:0017666 | Keratoderma, Palmoplantar, Diffuse" +BMGC_DS01319,BMG_DS001677,Keratosis | Hyperkeratosis | keratosis | MONDO:0006566 | SNOMEDCT ID:254666005 | UMLS ID:C0022593 | MeSH ID:D007642 | Keratosis (disorder) | DOID:161 +BMGC_DS01320,BMG_DS001678,UMLS ID:C0022594 | Keratosis Blennorrhagica | MeSH ID:D007642 | Keratosis +BMGC_DS01321,BMG_DS001679,MeSH ID:D007644 | DOID:2734 | Keratosis Follicularis | OMIM ID:124200 | Darier disease | UMLS ID:C0022595 | Darier Disease | MONDO:0007417 | keratosis follicularis +BMGC_DS01322,BMG_DS001680,palmoplantar keratosis | UMLS ID:C0022596 | MONDO:0006590 | DOID:3390 +BMGC_DS01323,BMG_DS001681,DOID:8866 | MONDO:0005173 | actinic keratosis | UMLS ID:C0022602 +BMGC_DS01324,BMG_DS001682,MONDO:0008420 | seborrheic keratosis | UMLS ID:C0022603 | OMIM ID:182000 | DOID:6498 +BMGC_DS01325,BMG_DS001683,DOID:2382 | bilirubin encephalopathy | SNOMEDCT ID:230770008 | Kernicterus (& [due to isoimmunisation]) (disorder) | SNOMEDCT ID:268880009 | Nuclear jaundice | ICD10 ID:P57 | Kernicterus - due to isoimm. | SNOMEDCT ID:157135006 | Kernicterus | Kernicterus (& [due to isoimmunization]) | Kernicterus due to isoimmunization | Kernicterus due to isoimmunisation | Kernicterus (morphologic abnormality) | Kernicterus (disorder) | MeSH ID:D007647 | MONDO:0018477 | SNOMEDCT ID:74925009 | kernicterus | OMIM ID:MTHU037351 | UMLS ID:C0022610 | Kernicterus (& [due to isoimmunisation]) +BMGC_DS01326,BMG_DS001685,DOID:2973 | MONDO:0006820 | Kidney Cortex Necrosis | UMLS ID:C0022656 | MeSH ID:D007673 | kidney cortex necrosis +BMGC_DS01327,BMG_DS001686,DOID:557 | MeSH ID:D007674 | kidney disease | Kidney Diseases | kidney disorder | MONDO:0005240 | UMLS ID:C0022658 +BMGC_DS01328,BMG_DS001687,"Kidney Failure, Acute | UMLS ID:C0022660 | acute kidney failure | DOID:3021 | MeSH ID:D058186 | Acute Kidney Injury" +BMGC_DS01329,BMG_DS001688,"UMLS ID:C0022661 | chronic renal failure syndrome | MeSH ID:D007676 | DOID:784 | MONDO:0024327 | chronic kidney disease | Kidney Failure, Chronic" +BMGC_DS01330,BMG_DS001689,UMLS ID:C0022665 | DOID:263 | kidney neoplasm | kidney cancer | MONDO:0021163 +BMGC_DS01331,BMG_DS001690,MONDO:0006821 | kidney papillary necrosis | UMLS ID:C0022667 | Kidney Papillary Necrosis | DOID:2981 | MeSH ID:D007681 +BMGC_DS01332,BMG_DS001691,"Acute Kidney Tubular Necrosis | MeSH ID:D007683 | UMLS ID:C0022672 | MONDO:0006637 | Kidney Tubular Necrosis, Acute | DOID:12556 | acute kidney tubular necrosis" +BMGC_DS01333,BMG_DS001692,DOID:2975 | UMLS ID:C0022679 | cystic kidney disease | OMIM ID:MTHU011852 | Cystic kidney +BMGC_DS01334,BMG_DS001693,DOID:898 | MONDO:0020642 | MeSH ID:D007690 | polycystic kidney disease | Polycystic Kidney Diseases | autosomal dominant polycystic kidney disease | UMLS ID:C0022680 +BMGC_DS01335,BMG_DS001694,"medullary sponge kidney | SNOMEDCT ID:236443009 | Medullary cystic disease of the kidney (disorder) | OMIM ID:MTHU067062 | Medullary: [cystic disease, adult type] or [sponge kidney] | UMLS ID:C0022681 | Medullary cystic disease, adult type | Medullary cystic disease of the kidney | Medullary sponge kidney (disorder) | Medullary: [cystic disease, adult type] or [sponge kidney] (disorder) | SNOMEDCT ID:204959000 | MONDO:0015268 | SNOMEDCT ID:29780007 | Medullary sponge kidney" +BMGC_DS01336,BMG_DS001695,UMLS ID:C0022682 | MONDO:0019967 | MeSH ID:D010020 | Osteonecrosis | Kienbock disease | Kienbock Disease +BMGC_DS01337,BMG_DS001696,MeSH ID:D007706 | UMLS ID:C0022716 | MONDO:0010651 | Menkes Kinky Hair Syndrome | Menkes disease | DOID:1838 | OMIM ID:309400 +BMGC_DS01338,BMG_DS001697,DOID:13272 | MONDO:0030603 | Klebsiella infectious disease | UMLS ID:C0022729 | Klebsiella pneumonia | MeSH ID:D007710 | Klebsiella Infections +BMGC_DS01339,BMG_DS001698,kleptomania | UMLS ID:C0022734 | MONDO:0001520 | DOID:12400 +BMGC_DS01340,BMG_DS001699,UMLS ID:C0022735 | MONDO:0006823 | Klinefelter Syndrome | Klinefelter syndrome | MeSH ID:D007713 | DOID:1921 +BMGC_DS01341,BMG_DS001700,MONDO:0001029 | DOID:10426 | MeSH ID:D007714 | UMLS ID:C0022738 | Klippel-Feil Syndrome | Klippel-Feil syndrome +BMGC_DS01342,BMG_DS001701,DOID:2926 | OMIM ID:149000 | UMLS ID:C0022739 | angioosteohypertrophic syndrome | Klippel-Trenaunay-Weber Syndrome | Klippel-Trenaunay syndrome | MONDO:0007864 | MeSH ID:D007715 +BMGC_DS01343,BMG_DS001702,DOID:8738 | leukoplakia of penis | MONDO:0006830 | UMLS ID:C0022782 +BMGC_DS01344,BMG_DS001703,MeSH ID:D007724 | MONDO:0006491 | UMLS ID:C0022783 | Vulvar Lichen Sclerosus | vulvar lichen sclerosus +BMGC_DS01345,BMG_DS001704,MONDO:0004829 | Krukenberg carcinoma | UMLS ID:C0022790 | DOID:9597 +BMGC_DS01346,BMG_DS001705,Adult Neuronal Ceroid Lipofuscinosis | MeSH ID:D009472 | MONDO:0019260 | UMLS ID:C0022797 | adult neuronal ceroid lipofuscinosis | Neuronal Ceroid-Lipofuscinoses +BMGC_DS01347,BMG_DS001706,kuru | Kuru encephalitis | MONDO:0006825 | DOID:648 | MeSH ID:D007729 | ICD10 ID:A81.81 | Kuru (disorder) | UMLS ID:C0022802 | SNOMEDCT ID:86188000 | Kuru | SNOMEDCT ID:192684001 +BMGC_DS01348,BMG_DS001707,Kwashiokor | Kwashiorkor (disorder) | Deposed child syndrome | SNOMEDCT ID:58262005 | Nutritional edema with dyspigmentation of skin AND/OR hair | Nutritional oedema with dyspigmentation of skin AND/OR hair | Dietary deficiency | Nutritional deficiencies | Fatty liver of Brahmin children | SNOMEDCT ID:267495004 | SNOMEDCT ID:154730001 | MeSH ID:D007732 | Protein malnutrition | Marasmus | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) (disorder) | kwashiorkor | Insufficiency - dietary | Kwashiorkor | UMLS ID:C0022806 | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) | MONDO:0006826 | ICD10 ID:E40 | DOID:13579 | Deficiency -nutritional | Malignant malnutrition +BMGC_DS01349,BMG_DS001708,MONDO:0017881 | DOID:11320 | Kyasanur Forest Disease | Kyasanur forest disease | MeSH ID:D007733 | UMLS ID:C0022810 +BMGC_DS01350,BMG_DS001710,Vestibular disorder | SNOMEDCT ID:20425006 | Labyrinthine disorder (disorder) | DOID:2952 | inner ear disease | Labyrinthine disorder | UMLS ID:C0022890 | Labyrinthine vertigo | Central vestibular vertigo +BMGC_DS01351,BMG_DS001711,SNOMEDCT ID:23919004 | ICD11 ID:AB30.1 | MeSH ID:D007762 | UMLS ID:C0022893 | DOID:1468 | labyrinthitis | Labyrinthitis (disorder) | Labyrinthitis | SNOMEDCT ID:155239008 | ICD10 ID:H83.0 | MONDO:0002008 +BMGC_DS01352,BMG_DS001712,Lacrimal Apparatus Diseases | MONDO:0001854 | DOID:1400 | MeSH ID:D007766 | lacrimal apparatus disease | lacrimal apparatus disorder | UMLS ID:C0022904 +BMGC_DS01353,BMG_DS001713,lacrimal duct obstruction | DOID:13929 | UMLS ID:C0022906 +BMGC_DS01354,BMG_DS001714,UMLS ID:C0022927 | MeSH ID:D007775 | lactation disease | Lactation Disorder | Lactation Disorders | MONDO:0045019 +BMGC_DS01355,BMG_DS001715,DOID:10604 | lactose intolerance | Lactose Intolerance | UMLS ID:C0022951 | MONDO:0100345 | MeSH ID:D007787 +BMGC_DS01356,BMG_DS001717,Lambert-Eaton Myasthenic Syndrome | MONDO:0018556 | Lambert-Eaton myasthenic syndrome | UMLS ID:C0022972 | MeSH ID:D015624 | DOID:0050214 +BMGC_DS01357,BMG_DS001719,OMIM ID:150230 | trichorhinophalangeal syndrome type II | UMLS ID:C0023003 | DOID:4998 | Langer-Giedion Syndrome | MONDO:0007874 | MeSH ID:D015826 +BMGC_DS01358,BMG_DS001721,DOID:93 | MONDO:0004750 | language disorder | UMLS ID:C0023015 +BMGC_DS01359,BMG_DS001723,"UMLS ID:C0023049 | MeSH ID:D007816 | larva migrans, visceral | MONDO:0024954 | toxocariasis | Larva Migrans, Visceral | DOID:9790" +BMGC_DS01360,BMG_DS001724,UMLS ID:C0023051 | laryngeal disorder | DOID:786 | MONDO:0004382 | laryngeal disease | Laryngeal Diseases | MeSH ID:D007818 +BMGC_DS01361,BMG_DS001725,MONDO:0021071 | UMLS ID:C0023055 | laryngeal neoplasm | DOID:2598 | laryngeal benign neoplasm +BMGC_DS01362,BMG_DS001726,UMLS ID:C0023059 | Laryngeal Perichondritis | Laryngeal Diseases | MeSH ID:D007818 +BMGC_DS01363,BMG_DS001727,SNOMEDCT ID:29331000 | Laryngismus stridulus | Laryngospasm (finding) | Laryngospasm | MeSH ID:D007826 | Laryngeal spasm (disorder) | Laryngismus | UMLS ID:C0023066 | SNOMEDCT ID:42006002 | SNOMEDCT ID:195868005 | Laryngospasm (disorder) | Laryngeal spasm | OMIM ID:MTHU001729 | SNOMEDCT ID:406444002 +BMGC_DS01364,BMG_DS001728,laryngitis | SNOMEDCT ID:45913009 | MONDO:0002647 | MeSH ID:D007827 | Laryngitis | DOID:3437 | Laryngitis (disorder) | UMLS ID:C0023067 +BMGC_DS01365,BMG_DS001730,laryngostenosis | MONDO:0001305 | DOID:11527 | UMLS ID:C0023075 +BMGC_DS01366,BMG_DS001733,MONDO:0005820 | Lassa fever | MeSH ID:D007835 | DOID:9537 | Lassa Fever | UMLS ID:C0023092 +BMGC_DS01367,BMG_DS001734,MeSH ID:D007849 | UMLS ID:C0023138 | Laurence-Moon syndrome | Laurence-Moon Syndrome | DOID:1930 | MONDO:0009514 | OMIM ID:245800 +BMGC_DS01368,BMG_DS001736,UMLS ID:C0023186 | DOID:8927 | learning disability +BMGC_DS01369,BMG_DS001737,MONDO:0009515 | Norum disease | Complete LCAT (lecithin-cholesterol acyltransferase) deficiency | DOID:1391 | UMLS ID:C0023195 | Familial lecithin cholesterol acyltransferase deficiency (disorder) | OMIM ID:245900 | Complete LCAT deficiency | Familial lecithin cholesterol acyltransferase deficiency | SNOMEDCT ID:1264565005 +BMGC_DS01370,BMG_DS001738,Left Bundle-Branch Block | Bundle-Branch Block | MeSH ID:D002037 | UMLS ID:C0023211 +BMGC_DS01371,BMG_DS001739,Heart Failure | UMLS ID:C0023212 | MeSH ID:D006333 | Left-Sided Heart Failure +BMGC_DS01372,BMG_DS001741,DOID:3142 | leg dermatosis | Leg Dermatoses | MeSH ID:D007868 | MONDO:0006569 | UMLS ID:C0023219 +BMGC_DS01373,BMG_DS001742,MeSH ID:D007871 | Leg Ulcer | ulcer of lower limbs | MONDO:0004601 | UMLS ID:C0023223 +BMGC_DS01374,BMG_DS001743,Coxa plana | SNOMEDCT ID:240241003 | DOID:14415 | Legg-Calve-Perthes disease | UMLS ID:C0023234 | Coxa plana (disorder) +BMGC_DS01375,BMG_DS001744,SNOMEDCT ID:26726000 | MeSH ID:D007876 | Legionellosis | legionellosis | Legionella infection | UMLS ID:C0023240 | DOID:10458 | MONDO:0005823 | Legionella infection (disorder) +BMGC_DS01376,BMG_DS001745,Legionnaires' Disease | DOID:10457 | UMLS ID:C0023241 | Legionnaires' disease | MeSH ID:D007877 | MONDO:0005824 +BMGC_DS01377,BMG_DS001746,UMLS ID:C0023264 | Leigh Disease | DOID:3652 | Leigh disease | MeSH ID:D007888 +BMGC_DS01378,BMG_DS001747,leiomyoma | DOID:127 | UMLS ID:C0023267 | MONDO:0001572 +BMGC_DS01379,BMG_DS001748,DOID:1967 | MONDO:0005058 | UMLS ID:C0023269 | leiomyosarcoma +BMGC_DS01380,BMG_DS001749,SNOMEDCT ID:80612004 | (Rickettsioses/arthropod NOS) or (leishmaniasis) | UMLS ID:C0023281 | MONDO:0011989 | SNOMEDCT ID:154377009 | leishmaniasis | Leishmaniosis | Leishmaniasis (disorder) | ICD10 ID:B55 | Leishmaniasis | MeSH ID:D007896 | DOID:9065 | Rickettsioses/arthropod NOS | SNOMEDCT ID:266206004 | (Rickettsioses/arthropod NOS) or (leishmaniasis) (disorder) +BMGC_DS01381,BMG_DS001750,"cutaneous leishmaniasis | DOID:9111 | MeSH ID:D016773 | Leishmaniasis, Cutaneous | MONDO:0005446 | UMLS ID:C0023283" +BMGC_DS01382,BMG_DS001755,"UMLS ID:C0023290 | visceral leishmaniasis | Leishmaniasis, Visceral | DOID:9146 | MeSH ID:D007898 | MONDO:0005445" +BMGC_DS01383,BMG_DS001756,UMLS ID:C0023308 | lens disease | Lens Diseases | DOID:110 | MeSH ID:D007905 +BMGC_DS01384,BMG_DS001757,Lens Dislocation and Subluxation | Lens Subluxation | UMLS ID:C0023310 | MeSH ID:D007906 +BMGC_DS01385,BMG_DS001758,Lens Subluxation | MONDO:0001271 | lens subluxation | UMLS ID:C0023316 | DOID:11364 | MeSH ID:D007906 +BMGC_DS01386,BMG_DS001759,lentigo | Nevus spilus | Naevus spilus | SNOMEDCT ID:201286007 | SNOMEDCT ID:767376003 | Lentigo simplex | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) (disorder) | Melanosis | SNOMEDCT ID:398744007 | OMIM ID:150900 | Lentigo (morphologic abnormality) | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) | Lentigo | ICD10 ID:L81.4 | MeSH ID:D007911 | SNOMEDCT ID:75534002 | Speckled lentiginous nevus | Dyschromia NOS | Speckled lentiginous naevus | SNOMEDCT ID:156438005 | SNOMEDCT ID:267870007 | Lentigo (disorder) | ICD11 ID:ED60.Z | MONDO:0021582 | Freckles | UMLS ID:C0023321 | Hypermelanosis of unspecified aetiology +BMGC_DS01387,BMG_DS001760,UMLS ID:C0023343 | Mycobacterial disease | Hansen's disease | Leprosy (disorder) | Mycobacterium leprae infection | (Leprosy + other mycobact dis) or (mycobacterial disease) (disorder) | Leprosy + other mycobact. dis. | Leprosy | SNOMEDCT ID:154298007 | SNOMEDCT ID:81004002 | Leprosy and other mycobacterial disorders | leprosy | (Leprosy + other mycobact dis) or (mycobacterial disease) | MONDO:0005124 | DOID:1024 | Infection due to Mycobacterium leprae | MeSH ID:D007918 | SNOMEDCT ID:266184007 +BMGC_DS01388,BMG_DS001761,Borderline leprosy (disorder) | Multibacillary leprosy | ICD10 ID:A30.3 | borderline leprosy | SNOMEDCT ID:50521002 | BB - Borderline leprosy | Borderline leprosy | MONDO:0005125 | SNOMEDCT ID:400008009 | Type BB leprosy | Dimorphic leprosy | ICD11 ID:1B20.1 | DOID:1023 | Group B leprosy | UMLS ID:C0023346 | Midborderline leprosy +BMGC_DS01389,BMG_DS001762,"UMLS ID:C0023348 | MeSH ID:D015440 | DOID:10887 | lepromatous leprosy | MONDO:0005127 | Leprosy, Lepromatous" +BMGC_DS01390,BMG_DS001763,ICD10 ID:A30.1 | Tuberculoid Hansen's disease (leprosy) | ICD11 ID:1B20.0 | Smooth leprosy | Full tuberculoid leprosy | TT - Full tuberculoid leprosy | tuberculoid leprosy | Nodular leprosy | DOID:1025 | Tuberculoid leprosy | SNOMEDCT ID:70143003 | UMLS ID:C0023351 | Tuberculoid leprosy (disorder) | Type T leprosy | Paucibacillary leprosy | MONDO:0005126 | Type TT leprosy +BMGC_DS01391,BMG_DS001765,Mud fever | ICD10 ID:A27 | Seven day fever | MONDO:0005825 | UMLS ID:C0023364 | Queensland fever | Trench mouth | 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) | SNOMEDCT ID:186953000 | Lymphogranuloma venereum | Red water fever | Angina - Vincents | Other venereal/spirochaete disease | Leptospirosis | SNOMEDCT ID:266213004 | Chancroid | Harvest fever | Swamp fever | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | SNOMEDCT ID:77377001 | DOID:2297 | Yaws | Vincent's angina | Japanese autumnal fever | Weil's disease | Other venereal/spirochaete dis | Infection due to Leptospira | Pretibial fever | Leptospirosis (disorder) | Spirochetal jaundice | Rice-field worker's disease | Cane cutter's fever | MeSH ID:D007922 | leptospirosis | Fort Bragg fever | Spirochaetal jaundice | SNOMEDCT ID:154391003 +BMGC_DS01392,BMG_DS001768,Lesch-Nyhan Syndrome | MONDO:0010298 | MeSH ID:D007926 | DOID:1919 | OMIM ID:300322 | UMLS ID:C0023374 | Lesch-Nyhan syndrome +BMGC_DS01393,BMG_DS001769,"letterer-Siwe disease | MeSH ID:D006646 | MONDO:0009519 | Histiocytosis, Langerhans-Cell | OMIM ID:246400 | Letterer-Siwe Disease | UMLS ID:C0023381 | DOID:2571 | Langerhans-cell histiocytosis" +BMGC_DS01394,BMG_DS001770,leukemia | DOID:1240 | UMLS ID:C0023418 | MONDO:0005059 +BMGC_DS01395,BMG_DS001771,DOID:1040 | OMIM ID:151400 | chronic lymphocytic leukemia | B-cell chronic lymphocytic leukemia | UMLS ID:C0023434 | MONDO:0004948 +BMGC_DS01396,BMG_DS001772,acute basophilic leukemia | UMLS ID:C0023437 | MONDO:0019458 +BMGC_DS01397,BMG_DS001773,UMLS ID:C0023440 | acute erythroid leukemia | MONDO:0017858 +BMGC_DS01398,BMG_DS001774,DOID:285 | hairy cell leukemia | UMLS ID:C0023443 | MONDO:0018935 +BMGC_DS01399,BMG_DS001775,DOID:1037 | MONDO:0005402 | UMLS ID:C0023448 | lymphoid leukemia +BMGC_DS01400,BMG_DS001776,MONDO:0004967 | acute lymphoblastic leukemia | DOID:9952 | UMLS ID:C0023449 +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 | DOID:9254 | mast-cell leukemia +BMGC_DS01403,BMG_DS001779,UMLS ID:C0023462 | acute megakaryocytic leukemia | MONDO:0018872 | acute megakaryoblastic leukemia | DOID:8761 +BMGC_DS01404,BMG_DS001780,DOID:9953 | MONDO:0020322 | UMLS ID:C0023464 | acute biphenotypic leukemia +BMGC_DS01405,BMG_DS001781,MONDO:0007896 | UMLS ID:C0023465 | OMIM ID:151380 | DOID:8864 | acute monocytic leukemia +BMGC_DS01406,BMG_DS001782,UMLS ID:C0023466 | chronic monocytic leukemia | MONDO:0004614 | DOID:8593 +BMGC_DS01407,BMG_DS001783,UMLS ID:C0023467 | DOID:9119 | OMIM ID:601626 | MONDO:0018874 | acute myeloid leukemia +BMGC_DS01408,BMG_DS001784,myeloid leukemia | MONDO:0004643 | DOID:8692 | UMLS ID:C0023470 +BMGC_DS01409,BMG_DS001786,"UMLS ID:C0023473 | DOID:8552;DOID:0081088 | chronic myelogenous leukemia, BCR-ABL1 positive | chronic myeloid leukemia" +BMGC_DS01410,BMG_DS001788,acute myelomonocytic leukemia M4 | UMLS ID:C0023479 | MONDO:0018871 | acute myelomonocytic leukemia | DOID:0081082 +BMGC_DS01411,BMG_DS001789,chronic myelomonocytic leukemia | MONDO:0020311 | UMLS ID:C0023480 +BMGC_DS01412,BMG_DS001790,UMLS ID:C0023481 | MONDO:0019451 | chronic neutrophilic leukemia +BMGC_DS01413,BMG_DS001791,null-cell leukemia | UMLS ID:C0023483 | MONDO:0004932 | DOID:9954 +BMGC_DS01414,BMG_DS001792,MONDO:0018689 | DOID:9513 | plasma cell leukemia | UMLS ID:C0023484 +BMGC_DS01415,BMG_DS001793,prolymphocytic leukemia | DOID:1039 | MONDO:0001023 | UMLS ID:C0023486 +BMGC_DS01416,BMG_DS001794,MONDO:0012883 | DOID:0060318 | OMIM ID:612376 | UMLS ID:C0023487 | acute promyelocytic leukemia +BMGC_DS01417,BMG_DS001795,MONDO:0005525 | UMLS ID:C0023492 | T-cell acute lymphoblastic leukemia | DOID:5603 | T-cell leukemia +BMGC_DS01418,BMG_DS001796,UMLS ID:C0023493 | DOID:0050523 | adult T-cell leukemia/lymphoma | MONDO:0019471 +BMGC_DS01419,BMG_DS001797,MONDO:0006829 | UMLS ID:C0023501 | Leukemoid Reaction | leukemoid reaction | MeSH ID:D007955 +BMGC_DS01420,BMG_DS001798,DOID:9500 | UMLS ID:C0023510 | leukocyte disorder | MeSH ID:D007960 | leukocyte disease | MONDO:0004805 | Leukocyte Disorders +BMGC_DS01421,BMG_DS001799,Leucocytosis (finding) | SNOMEDCT ID:267568006 | Leukocytosis | (Other white blood cell disease NOS) or (leucocytosis) | Other white blood cell disease NOS | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] (disorder) | (Other white blood cell disease) or (leucocytosis) (disorder) | WBC: [other diseases] or [lymphocytosis] or [leukocytosis] | (Other white blood cell disease) or (leukocytosis) | Lymphocytosis | (Other white blood cell disease NOS) or (leucocytosis) (disorder) | UMLS ID:C0023518 | OMIM ID:MTHU000211 | (Other white blood cell disease NOS) or (leukocytosis) | Leucocytosis | SNOMEDCT ID:191364006 | Other WBC diseases | Other white blood cell disease | MeSH ID:D007964 | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] | Leukocytosis (disorder) | SNOMEDCT ID:142918008 | (Other white blood cell disease) or (leucocytosis) | SNOMEDCT ID:191368009 | SNOMEDCT ID:111583006 | SNOMEDCT ID:154832004 +BMGC_DS01422,BMG_DS001800,leukodystrophy | Leucodystrophy | OMIM ID:MTHU037739 | UMLS ID:C0023520 | Leukodystrophy (disorder) | SNOMEDCT ID:192781003 | MONDO:0019046 | DOID:10579 | SNOMEDCT ID:5101009 | Leukodystrophy +BMGC_DS01423,BMG_DS001801,OMIM ID:245200 | UMLS ID:C0023521 | Krabbe disease | MONDO:0009499 | DOID:10587 +BMGC_DS01424,BMG_DS001802,"UMLS ID:C0023522 | MeSH ID:D007966 | metachromatic leukodystrophy | DOID:10581 | Leukodystrophy, Metachromatic | MONDO:0018868" +BMGC_DS01425,BMG_DS001803,Oral leukoedema | oral leukoedema | MONDO:0006880 | Leukedema of mouth (disorder) | DOID:4557 | UMLS ID:C0023523 | Leukoedema of mouth | Leukedema of mouth | SNOMEDCT ID:67795000 +BMGC_DS01426,BMG_DS001804,"MONDO:0016318 | progressive multifocal leukoencephalopathy | DOID:643 | MeSH ID:D007968 | UMLS ID:C0023524 | Leukoencephalopathy, Progressive Multifocal" +BMGC_DS01427,BMG_DS001806,"DOID:13088 | periventricular leukomalacia | UMLS ID:C0023529 | Leukomalacia, Periventricular | MONDO:0015742 | MeSH ID:D007969" +BMGC_DS01428,BMG_DS001807,MONDO:0003785 | Leukopenia (disorder) | Leucopenia | ICD10 ID:D72.819 | MeSH ID:D007970 | SNOMEDCT ID:84828003 | Leucocytopenia | Leucopenia (disorder) | OMIM ID:MTHU036911 | SNOMEDCT ID:191348003 | Leukopenia | SNOMEDCT ID:142917003 | Leucopenia (finding) | DOID:615 | Leukocytopenia | UMLS ID:C0023530 | leukopenia +BMGC_DS01429,BMG_DS001808,UMLS ID:C0023531 | leukoplakia | MONDO:0043243 +BMGC_DS01430,BMG_DS001809,UMLS ID:C0023532 | MONDO:0004844 | oral mucosa leukoplakia +BMGC_DS01431,BMG_DS001810,DOID:3766 | leukorrhea | MONDO:0002769 | UMLS ID:C0023533 +BMGC_DS01432,BMG_DS001813,Leydig cell tumor | MONDO:0006266 | DOID:2696 | UMLS ID:C0023601 +BMGC_DS01433,BMG_DS001814,DOID:8574 | lichen disease | UMLS ID:C0023643 | MONDO:0006570 +BMGC_DS01434,BMG_DS001815,Lichen planopilaris | SNOMEDCT ID:64540004 | MeSH ID:C535892 | MONDO:0018879 | UMLS ID:C0023645 | lichen planopilaris | Lichen planopilaris (disorder) | Lichen planus follicularis +BMGC_DS01435,BMG_DS001816,MeSH ID:D008010 | Lichen Planus | UMLS ID:C0023646 | lichen planus | DOID:9201 | MONDO:0006572 +BMGC_DS01436,BMG_DS001824,DOID:4023 | linitis plastica | UMLS ID:C0023743 +BMGC_DS01437,BMG_DS001825,lip disease | MeSH ID:D008047 | MONDO:0004748 | Lip Diseases | DOID:9297 | UMLS ID:C0023760 | lip disorder +BMGC_DS01438,BMG_DS001827,"UMLS ID:C0023772 | lipid metabolism disorder | DOID:3146 | MeSH ID:D008052 | Lipid Metabolism, Inborn Errors" +BMGC_DS01439,BMG_DS001828,mucopolysaccharidosis I | UMLS ID:C0023786 | mucopolysaccharidosis type 1 | Mucopolysaccharidosis I | DOID:12802 | MONDO:0001586 | MeSH ID:D008059 +BMGC_DS01440,BMG_DS001829,MeSH ID:D008060 | DOID:811 | OMIM ID:MTHU037286 | (Lipodystrophy) or (Barraquer - Simons disease) | Dystrophy of fatty tissue | SNOMEDCT ID:71325002 | Lipodystrophy (disorder) | Barraquer-Simons disease | lipodystrophy | (Lipodystrophy) or (Barraquer - Simons disease) (disorder) | MONDO:0006573 | Lipodystrophy | Barraquer - Simons disease | SNOMEDCT ID:190789006 | UMLS ID:C0023787 +BMGC_DS01441,BMG_DS001830,UMLS ID:C0023788 | Whipple disease | MeSH ID:D008061 | Whipple Disease | MONDO:0005116 | DOID:8476 +BMGC_DS01442,BMG_DS001831,SNOMEDCT ID:11455007 | Lipoidosis | lysosomal lipid storage disorder | Lipidoses | lipid storage disease | Lipoidosis (disorder) | UMLS ID:C0023794 | MONDO:0019245 | MeSH ID:D008064 | DOID:9455 +BMGC_DS01443,BMG_DS001832,MONDO:0009530 | lipoid proteinosis | UMLS ID:C0023795 | OMIM ID:247100 | Lipoid Proteinosis of Urbach and Wiethe | MeSH ID:D008065 | DOID:14498 +BMGC_DS01444,BMG_DS001833,DOID:3315 | UMLS ID:C0023798 | lipoma | MONDO:0005106 +BMGC_DS01445,BMG_DS001834,SNOMEDCT ID:402693001 | SNOMEDCT ID:37095002 | UMLS ID:C0023801 | MONDO:0006574 | Lipomatosis (disorder) | Lipomatosis (morphologic abnormality) | MeSH ID:D008068 | DOID:3153 | Lipomatosis | lipomatosis +BMGC_DS01446,BMG_DS001836,"UMLS ID:C0023804 | multiple symmetric lipomatosis | MeSH ID:D008069 | OMIM ID:151800 | Lipomatosis, Multiple Symmetrical | MONDO:0007908 | DOID:14116" +BMGC_DS01447,BMG_DS001837,Mucolipidoses | MeSH ID:D009081 | MONDO:0019346 | Normomorphic sialidosis | SNOMEDCT ID:723675006 | Lipomucopolysaccharidosis | UMLS ID:C0023806 | Sialidosis type 1 (disorder) | Sialidosis type 1 | Cherry red spot myoclonus syndrome | sialidosis type 1 +BMGC_DS01448,BMG_DS001838,MeSH ID:D008072 | Hyperlipoproteinemia Type I | UMLS ID:C0023817 | MONDO:0009387 | OMIM ID:238600 | familial lipoprotein lipase deficiency | DOID:14118 +BMGC_DS01449,BMG_DS001839,DOID:3382 | UMLS ID:C0023827 | MONDO:0005060 | liposarcoma +BMGC_DS01450,BMG_DS001840,Listeriosis | SNOMEDCT ID:4241002 | Infection due to Listeria monocytogenes | Listerellosis | MeSH ID:D008088 | Listeria monocytogenes infection | listeriosis | MONDO:0005828 | UMLS ID:C0023860 | SNOMEDCT ID:186315001 | Circling disease | ICD10 ID:A32 | DOID:11573 | Listeriosis (disorder) +BMGC_DS01451,BMG_DS001841,MeSH ID:D002547 | Cerebral Palsy | spastic diplegia | Little's Disease | UMLS ID:C0023882 | DOID:10965 +BMGC_DS01452,BMG_DS001842,UMLS ID:C0023885 | Liver Abscess | MeSH ID:D008100 +BMGC_DS01453,BMG_DS001843,"UMLS ID:C0023886 | MeSH ID:D008101 | Liver Abscess, Amebic" +BMGC_DS01454,BMG_DS001844,cirrhosis of liver | Liver Cirrhosis | MeSH ID:D008103 | DOID:5082 | liver cirrhosis | UMLS ID:C0023890 | MONDO:0005155 +BMGC_DS01455,BMG_DS001845,"MONDO:0006644 | DOID:14018 | MeSH ID:D008104 | alcoholic liver cirrhosis | Liver Cirrhosis, Alcoholic | UMLS ID:C0023891" +BMGC_DS01456,BMG_DS001846,Biliary cirrhosis (disorder) | Biliary cirrhosis | DOID:12236 | primary biliary cholangitis | OMIM ID:MTHU037261 | Chronic nonsuppurative destructive cholangitis | SNOMEDCT ID:1761006 | UMLS ID:C0023892 | Cholangitic cirrhosis | Cholestatic cirrhosis +BMGC_DS01457,BMG_DS001847,liver disease | DOID:409 | UMLS ID:C0023895 +BMGC_DS01458,BMG_DS001848,"MeSH ID:D008108 | Alcoholic Liver Diseases | UMLS ID:C0023896 | MONDO:0043693 | alcoholic liver diseases | Liver Diseases, Alcoholic" +BMGC_DS01459,BMG_DS001849,"Liver Diseases, Parasitic | UMLS ID:C0023897 | MeSH ID:D008109" +BMGC_DS01460,BMG_DS001850,liver cancer | DOID:3571 | UMLS ID:C0023903 +BMGC_DS01461,BMG_DS001851,DOID:0110334 | Lobstein Disease | Osteogenesis Imperfecta | osteogenesis imperfecta type 1 | MONDO:0008146 | MeSH ID:D010013 | UMLS ID:C0023931 | OMIM ID:166200 +BMGC_DS01462,BMG_DS001853,UMLS ID:C0023944 | Locked-In Syndrome | MONDO:0016567 | locked-in syndrome | MeSH ID:D000080422 | DOID:12697 +BMGC_DS01463,BMG_DS001854,UMLS ID:C0023968 | DOID:13523 | MONDO:0016566 | loiasis +BMGC_DS01464,BMG_DS001855,long QT syndrome | UMLS ID:C0023976 | MONDO:0002442 | DOID:2843 +BMGC_DS01465,BMG_DS001856,louping ill | DOID:10250 | UMLS ID:C0024025 +BMGC_DS01466,BMG_DS001857,Lown-Ganong-Levine syndrome | UMLS ID:C0024054 | DOID:13087 +BMGC_DS01467,BMG_DS001858,DOID:4558 | MONDO:0006576 | Ludwig's angina | UMLS ID:C0024081 +BMGC_DS01468,BMG_DS001860,MONDO:0000744 | lung abscess | DOID:0060317 | UMLS ID:C0024110 +BMGC_DS01469,BMG_DS001861,MONDO:0005275 | Respiratory diseases | Respiratory system diseases (& lung diseases) | lung disease | Lung diseases | SNOMEDCT ID:266374002 | Respiratory system diseases (& lung diseases) (disorder) | UMLS ID:C0024115 | DOID:850 | lung disorder | Respiratory system diseases +BMGC_DS01470,BMG_DS001862,"Lung Diseases, Fungal | MONDO:0005766 | MeSH ID:D008172 | UMLS ID:C0024116 | fungal lung infectious disease" +BMGC_DS01471,BMG_DS001863,"DOID:3083 | MeSH ID:D029424 | OMIM ID:606963 | Pulmonary Disease, Chronic Obstructive | Chronic Obstructive Airway Disease | MONDO:0005002 | UMLS ID:C0024117 | chronic obstructive pulmonary disease" +BMGC_DS01472,BMG_DS001864,"MeSH ID:D008174 | Lung Diseases, Parasitic | UMLS ID:C0024118" +BMGC_DS01473,BMG_DS001865,lung neoplasm | DOID:3683 | lung benign neoplasm | MONDO:0021117 | UMLS ID:C0024121 +BMGC_DS01474,BMG_DS001867,"cutaneous lupus erythematosus | Lupus Erythematosus, Cutaneous | MeSH ID:D008178 | MONDO:0005282;MONDO:0018887 | UMLS ID:C0024137 | obsolete rare cutaneous lupus erythematosus" +BMGC_DS01475,BMG_DS001868,Chronic discoid lupus erythematosus | SNOMEDCT ID:238927000 | Discoid lupus erythematosus (disorder) | CDLE - Chronic discoid lupus erythematosus | Chronic discoid lupus erythematosus (disorder) | SNOMEDCT ID:13902000 | UMLS ID:C0024138 | Discoid lupus erythematosus +BMGC_DS01476,BMG_DS001869,"Lupus Erythematosus, Subacute Cutaneous | Lupus Erythematosus, Cutaneous | MONDO:0015573;MONDO:0018887 | subacute cutaneous lupus erythematosus | UMLS ID:C0024140 | MeSH ID:D008178 | obsolete rare cutaneous lupus erythematosus" +BMGC_DS01477,BMG_DS001870,"systemic lupus erythematosus | MONDO:0007915 | DOID:9074 | UMLS ID:C0024141 | Lupus Erythematosus, Systemic | OMIM ID:152700 | MeSH ID:D008180" +BMGC_DS01478,BMG_DS001871,MeSH ID:D008181 | Lupus Nephritis | UMLS ID:C0024143 | lupus nephritis | MONDO:0005556 | DOID:0080162 +BMGC_DS01479,BMG_DS001872,DOID:0060386 | chilblain lupus 1 | OMIM ID:610448 | UMLS ID:C0024145 | MeSH ID:C535924 | MONDO:0012500 | Chilblain lupus 1 | Chilblain lupus +BMGC_DS01480,BMG_DS001873,MeSH ID:D008185 | UMLS ID:C0024164 | DOID:1998 | Lutembacher's syndrome | Lutembacher syndrome | Lutembacher Syndrome | MONDO:0006839 +BMGC_DS01481,BMG_DS001874,DOID:11729 | UMLS ID:C0024198 | MONDO:0019632 | MeSH ID:D008193 | Lyme Disease | Lyme disease +BMGC_DS01482,BMG_DS001875,"Lymphadenitis (disorder) | ICD11 ID:BD90.2Z | OMIM ID:MTHU037495 | Lymphadenitis | Adenitis | MONDO:0002052 | lymphadenitis | DOID:1602 | Chronic lymphadenitis, unspecified | SNOMEDCT ID:19471005 | ICD10 ID:I88.1 | Inflammation of lymph node | UMLS ID:C0024205 | MeSH ID:D008199" +BMGC_DS01483,BMG_DS001876,"lymphangiectasis | ICD10 ID:I89.0 | MeSH ID:D008200 | Lymphangiectasia | UMLS ID:C0024214 | MONDO:0006840 | ICD11 ID:BD93.Z | SNOMEDCT ID:48087001 | Lymphoedema, unspecified | Lymphangiectasis (morphologic abnormality) | Lymphangiectasis" +BMGC_DS01484,BMG_DS001879,DOID:1475 | UMLS ID:C0024221 | MONDO:0002013 | lymphangioma +BMGC_DS01485,BMG_DS001882,Lymphangitis | ICD11 ID:BD91 | SNOMEDCT ID:1415005 | MONDO:0005832 | DOID:9317 | OMIM ID:MTHU075696 | UMLS ID:C0024225 | MeSH ID:D008205 | lymphangitis | ICD10 ID:I89.1 | Inflammation of lymphatics | Lymphangitis (disorder) +BMGC_DS01486,BMG_DS001883,MONDO:0044986 | UMLS ID:C0024228 | Lymphatic Diseases | lymphatic system disease | lymphoid system disorder | MeSH ID:D008206 | DOID:75 +BMGC_DS01487,BMG_DS001884,Lymphatic oedema | UMLS ID:C0024236 | (Noninfective lymphatic disorders) or (lymphedema) | OMIM ID:MTHU001042 | lymphedema | Lymphatic edema (morphologic abnormality) | DOID:4977 | Elephantiasis | Lymphatic edema | (Noninfective lymphatic disorders) or (lymphoedema) | Noninfective lymphatic disorders | Lymphedema (disorder) | SNOMEDCT ID:195486001 | (Elephantiasis) or (lymphedema [& NOS]) | MeSH ID:D008209 | Lymphoedema | Lymphoedema NOS | Lymphedema NOS | (Noninfective lymphatic disorders) or (lymphoedema) (disorder) | MONDO:0019297 | Acquired lymphoedema | (Elephantiasis) or (lymphoedema [& NOS]) | Lymphedema | Acquired lymphedema | SNOMEDCT ID:155485008 | SNOMEDCT ID:266334008 | SNOMEDCT ID:30213001 | SNOMEDCT ID:234097001 | (Elephantiasis) or (lymphoedema [& NOS]) (disorder) +BMGC_DS01488,BMG_DS001885,UMLS ID:C0024248 | SNOMEDCT ID:234109007 | lymphocele | DOID:4347 | MONDO:0002968 | Lymphocele | Lymphocele (disorder) | MeSH ID:D008210 +BMGC_DS01489,BMG_DS001886,UMLS ID:C0024266 | MONDO:0001449 | Lymphocytic Choriomeningitis | lymphocytic choriomeningitis | DOID:12155 | MeSH ID:D008216 +BMGC_DS01490,BMG_DS001887,Other WBC diseases | SNOMEDCT ID:154832004 | UMLS ID:C0024282 | Lymphocytosis (disorder) | SNOMEDCT ID:267568006 | Leukocytosis | WBC: [other diseases] or [lymphocytosis] or [leukocytosis] | MeSH ID:D008218 | Lymphocytosis | SNOMEDCT ID:67023009 | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] (disorder) | Leucocytosis +BMGC_DS01491,BMG_DS001888,lymphogranuloma venereum | MeSH ID:D008219 | Lymphogranuloma Venereum | MONDO:0005834 | DOID:13819 | UMLS ID:C0024286 +BMGC_DS01492,BMG_DS001889,"MeSH ID:D051359 | DOID:0050120 | Lymphohistiocytosis, Hemophagocytic | hemophagocytic lymphohistiocytosis | UMLS ID:C0024291" +BMGC_DS01493,BMG_DS001890,UMLS ID:C0024299 | lymphoma | DOID:0060058 | MONDO:0005062 +BMGC_DS01494,BMG_DS001891,follicular lymphoma | UMLS ID:C0024301 | MONDO:0018906 +BMGC_DS01495,BMG_DS001892,MONDO:0009975 | OMIM ID:267730 | DOID:8538 | reticulosarcoma | UMLS ID:C0024302 | reticulum cell sarcoma +BMGC_DS01496,BMG_DS001893,non-Hodgkin lymphoma | UMLS ID:C0024305 | DOID:0060060 | MONDO:0018908 +BMGC_DS01497,BMG_DS001894,UMLS ID:C0024307 | DOID:0081307 | MONDO:0019466 | lymphomatoid granulomatosis +BMGC_DS01498,BMG_DS001895,MeSH ID:D008231 | Alymphocytosis | Lymphocytopenia | DOID:614 | MONDO:0003783 | lymphopenia | UMLS ID:C0024312 | SNOMEDCT ID:48813009 | Lymphocytopenia (disorder) | OMIM ID:MTHU006263 | Lymphopenia +BMGC_DS01499,BMG_DS001896,lymphoproliferative syndrome | MONDO:0016537 | UMLS ID:C0024314 +BMGC_DS01500,BMG_DS001897,Machado-Joseph Disease | MeSH ID:D017827 | OMIM ID:109150 | DOID:1440 | UMLS ID:C0024408 | Machado-Joseph disease | MONDO:0007182 +BMGC_DS01501,BMG_DS001898,MONDO:0100280 | lymphoplasmacytic lymphoma | DOID:0060901 | Waldenstrom macroglobulinemia | UMLS ID:C0024419 +BMGC_DS01502,BMG_DS001899,macroglossia | Acquired macroglossia | SNOMEDCT ID:52106009 | (Congenital): [macroglossia (& acquired)] or [tongue hypertrophy] (disorder) | SNOMEDCT ID:204628000 | SNOMEDCT ID:25273001 | MONDO:0015496 | (Congenital): [macroglossia (& acquired)] or [tongue hypertrophy] | MeSH ID:D008260 | Enlargement of tongue (disorder) | Congenital tongue hypertrophy | UMLS ID:C0024421 | OMIM ID:MTHU000268 | Congenital macroglossia | Enlarged tongue (disorder) | Congenital hypertrophy of tongue | Large tongue | Enlarged tongue | Enlargement of tongue | Macroglossia | Hypertrophy of tongue | Acquired hypertrophy of tongue +BMGC_DS01503,BMG_DS001900,SNOMEDCT ID:302891003 | UMLS ID:C0024437 | MONDO:0003004 | DOID:4448 | Senile macular retinal degeneration | macular degeneration | OMIM ID:MTHU003281 | Macular degeneration | Macular degeneration (disorder) +BMGC_DS01504,BMG_DS001901,DOID:2565 | macular corneal dystrophy | OMIM ID:MTHU037954 | Macular corneal dystrophy (disorder) | ICD10 ID:H18.55 | SNOMEDCT ID:60258001 | Macular corneal dystrophy | UMLS ID:C0024439 +BMGC_DS01505,BMG_DS001902,"cystoid macular edema | DOID:4447 | MONDO:0007935 | UMLS ID:C0024440 | OMIM ID:153880 | Macular Edema, Cystoid | Macular Edema | MeSH ID:D008269" +BMGC_DS01506,BMG_DS001903,MeSH ID:D012167 | UMLS ID:C0024441 | MONDO:0006843 | Retinal Perforations | DOID:7633 | Macular Holes | macular holes +BMGC_DS01507,BMG_DS001904,Mycetoma | Mycetoma (disorder) | MeSH ID:D008271 | DOID:13078 | Mycetomata | eumycotic mycetoma | ICD10 ID:B47 | MONDO:0016823 | mycetoma | UMLS ID:C0024449 | SNOMEDCT ID:410039003 +BMGC_DS01508,BMG_DS001905,Enchondromatosis | MeSH ID:D004687 | UMLS ID:C0024454 | MONDO:0013808 | DOID:4624 | Maffucci syndrome | OMIM ID:614569 | Ollier disease | Maffucci Syndrome +BMGC_DS01509,BMG_DS001906,MONDO:0006844 | MeSH ID:D008275 | Magnesium Deficiency | UMLS ID:C0024473 | magnesium deficiency +BMGC_DS01510,BMG_DS001907,Majewski Syndrome | UMLS ID:C0024507 | OMIM ID:263520 | Short Rib-Polydactyly Syndrome | MeSH ID:D012779 | short-rib thoracic dysplasia 6 with or without polydactyly | MONDO:0009894 +BMGC_DS01511,BMG_DS001908,DOID:1470 | UMLS ID:C0024517 | major depressive disorder +BMGC_DS01512,BMG_DS001909,UMLS ID:C0024523 | MeSH ID:D008286 | Malabsorption Syndromes | Malabsorption Syndrome | MONDO:0020598 | malabsorption syndrome +BMGC_DS01513,BMG_DS001911,MeSH ID:D008288 | Paludism | SNOMEDCT ID:154374002 | MONDO:0005136 | malaria | UMLS ID:C0024530 | SNOMEDCT ID:61462000 | DOID:12365 | Malaria | Malaria (disorder) | Plasmodiosis +BMGC_DS01514,BMG_DS001913,"MONDO:0005625 | UMLS ID:C0024534 | Malaria, Cerebral | MeSH ID:D016779 | cerebral malaria | DOID:14069" +BMGC_DS01515,BMG_DS001914,"Malaria, Falciparum | UMLS ID:C0024535 | MeSH ID:D016778 | DOID:14067 | MONDO:0005920 | Plasmodium falciparum malaria" +BMGC_DS01516,BMG_DS001915,Quartan malaria | MONDO:0001943 | Quartan malaria (disorder) | Malariae malaria | Plasmodium malariae malaria | UMLS ID:C0024536 | DOID:14324 | SNOMEDCT ID:27618009 | Malaria by Plasmodium malariae +BMGC_DS01517,BMG_DS001916,"Plasmodium vivax malaria | MONDO:0005921 | Malaria, Vivax | UMLS ID:C0024537 | DOID:12978 | MeSH ID:D016780" +BMGC_DS01518,BMG_DS001917,Malignant Carcinoid Syndrome | UMLS ID:C0024586 | carcinoid syndrome | MONDO:0100347 | MeSH ID:D008303 +BMGC_DS01519,BMG_DS001918,Accelerated essential hypertension | DOID:10823 | SNOMEDCT ID:78975002 | malignant essential hypertension | Malignant essential hypertension (disorder) | MONDO:0001133 | UMLS ID:C0024588 | Malignant essential hypertension +BMGC_DS01520,BMG_DS001919,malignant hyperthermia of anesthesia | MONDO:0018493 | UMLS ID:C0024591 | DOID:8545 | malignant hyperthermia +BMGC_DS01521,BMG_DS001920,UMLS ID:C0024620 | liver cancer | DOID:3571 +BMGC_DS01522,BMG_DS001922,UMLS ID:C0024622 | MONDO:0003072 | retinal cancer | DOID:4645 +BMGC_DS01523,BMG_DS001923,MONDO:0001056 | DOID:10534 | UMLS ID:C0024623 | gastric cancer | OMIM ID:613659 | stomach cancer +BMGC_DS01524,BMG_DS001924,DOID:1324 | UMLS ID:C0024624 | lung cancer +BMGC_DS01525,BMG_DS001926,MeSH ID:D008336 | Mandibular Diseases | UMLS ID:C0024689 +BMGC_DS01526,BMG_DS001927,mandibular cancer | DOID:2338 | UMLS ID:C0024694 +BMGC_DS01527,BMG_DS001928,Animal scabies | Mite Infestations | SNOMEDCT ID:67172004 | Infestation by Sarcoptes scabiei (disorder) | Mange (disorder) | MeSH ID:D008924 | SNOMEDCT ID:128867006 | UMLS ID:C0024709 | Sarcoptic mange | Infestation by Sarcoptes scabiei | Mange +BMGC_DS01528,BMG_DS001929,"UMLS ID:C0024710 | MeSH ID:D012532 | Scabies | Mange, Sarcoptic" +BMGC_DS01529,BMG_DS001930,UMLS ID:C0024713 | manic bipolar affective disorder | bipolar disorder | DOID:3312 | MONDO:0024612 +BMGC_DS01530,BMG_DS001931,alpha-Mannosidosis | DOID:3413 | MeSH ID:D008363 | alpha-mannosidosis | OMIM ID:248500 | MONDO:0009561 | UMLS ID:C0024748 +BMGC_DS01531,BMG_DS001932,MeSH ID:D008368 | DOID:1081 | MONDO:0005838 | UMLS ID:C0024759 | ICD10 ID:B74.4 | Mansonelliasis | ICD11 ID:1F66.1 | SNOMEDCT ID:240849009 | Mansonelliasis (disorder) | mansonelliasis +BMGC_DS01532,BMG_DS001933,UMLS ID:C0024776 | MeSH ID:D008375 | MONDO:0009563 | maple syrup urine disease | Maple Syrup Urine Disease | DOID:9269 +BMGC_DS01533,BMG_DS001934,Marburg Virus Disease | MeSH ID:D008379 | MONDO:0020500 | UMLS ID:C0024788 | Marburg hemorrhagic fever | DOID:4327 +BMGC_DS01534,BMG_DS001935,paroxysmal nocturnal hemoglobinuria | SNOMEDCT ID:267559009 | SNOMEDCT ID:1963002 | Haemoglobinuria-haemol. | Hemoglobinuria: [external cause] or [hemolytic] or [paroxysmal nocturnal] | Paroxysmal nocturnal haemoglobinuria | Paroxysmal nocturnal hemoglobinuria | Parox. noct. hemoglobinuria | Haemoglobinuria: [external cause] or [haemolytic] or [paroxysmal nocturnal] | Parox. noct. haemoglobinuria | Haemoglobinuria: [external cause] or [haemolytic] or [paroxysmal nocturnal] (disorder) | SNOMEDCT ID:154805009 | DOID:0060284 | Hemoglobinuria - external causation | PNH - paroxysmal nocturnal haemoglobinuria | PNH - paroxysmal nocturnal hemoglobinuria | Hemoglobinuria-external cause | Paroxysmal nocturnal hemoglobinuria (disorder) | MONDO:0100244 | Marchiafava-Micheli syndrome | Hemoglobinuria-hemol. | UMLS ID:C0024790 | Haemoglobinuria-external cause | Haemoglobinuria - external causation +BMGC_DS01535,BMG_DS001936,UMLS ID:C0024796 | MONDO:0007947 | DOID:14323 | OMIM ID:154700 | MeSH ID:D008382 | Marfan syndrome | Marfan Syndrome +BMGC_DS01536,BMG_DS001938,DOID:9505 | UMLS ID:C0024809 | cannabis abuse +BMGC_DS01537,BMG_DS001939,MONDO:0009567 | (Marinesco-Sjogren syndrome) or (disorder of metabolism NOS) | Marinesco Sjogren syndrome | (Marinesco-Sjogren syndrome) or (disorder of metabolism NOS) (disorder) | Marinesco-Sjögren syndrome | Marinesco-Sjogren syndrome | SNOMEDCT ID:80734006 | SNOMEDCT ID:190961002 | Disorder of metabolism NOS | OMIM ID:248800 | UMLS ID:C0024814 | Marinesco-Sjögren syndrome (disorder) | Oligophrenic cerebellolenticular degeneration +BMGC_DS01538,BMG_DS001940,"UMLS ID:C0024894 | Inflammatory disorder of breast | SNOMEDCT ID:155952005 | Inflammatory breast disease (& [abscess, non puerperal] or [mastitis (& non puerperal)]) | Mastitis | MeSH ID:D008413 | Inflammatory disease of breast (& [mastitis]) (disorder) | Inflammatory disease of breast | Inflammatory disease of breast (& [mastitis]) | SNOMEDCT ID:266641007 | Mastitis (disorder) | Breast abscess - non puerperal | SNOMEDCT ID:45198002 | SNOMEDCT ID:198099006 | Non-puerperal mastitis | mastitis | Inflammatory breast disease (& [abscess, non puerperal] or [mastitis (& non puerperal)]) (disorder) | MONDO:0006849 | DOID:10690 | Inflammatory breast disease | Abscess, breast, non puerperal | Mastitis - non puerperal" +BMGC_DS01539,BMG_DS001943,UMLS ID:C0024899 | DOID:350 | MONDO:0007950 | mastocytosis +BMGC_DS01540,BMG_DS001944,"MeSH ID:D034701 | Mastocytosis, Cutaneous | UMLS ID:C0024900 | Mastocytosis, Bullous" +BMGC_DS01541,BMG_DS001945,UMLS ID:C0024901 | diffuse cutaneous mastocytosis | MONDO:0019315 | DOID:3665 +BMGC_DS01542,BMG_DS001946,OMIM ID:MTHU005996 | mastoiditis | DOID:0060322 | MeSH ID:D008417 | MONDO:0000748 | Mastoiditis (disorder) | SNOMEDCT ID:52404001 | UMLS ID:C0024904 | Mastoiditis | SNOMEDCT ID:155230007 +BMGC_DS01543,BMG_DS001947,MeSH ID:D008439 | UMLS ID:C0024950 | Maxillary Diseases +BMGC_DS01544,BMG_DS001948,UMLS ID:C0024954 | maxillary neoplasm | DOID:4618 | MONDO:0005841 | maxillary cancer +BMGC_DS01545,BMG_DS001949,MONDO:0006850 | UMLS ID:C0024958 | DOID:1358 | maxillary sinus benign neoplasm | maxillary sinus neoplasm +BMGC_DS01546,BMG_DS001950,DOID:2051 | MeSH ID:D015523 | MONDO:0005842 | Maxillary Sinusitis | maxillary sinusitis | UMLS ID:C0024959 +BMGC_DS01547,BMG_DS001951,Measles | SNOMEDCT ID:154338006 | MONDO:0004619 | Rubeola | Morbilli | measles | MeSH ID:D008457 | ICD10 ID:B05 | Measles (disorder) | DOID:8622 | UMLS ID:C0025007 | SNOMEDCT ID:14189004 +BMGC_DS01548,BMG_DS001952,MONDO:0007955 | Meckel's diverticulum | Meckel diverticulum | UMLS ID:C0025037 | OMIM ID:155140 | DOID:9487 +BMGC_DS01549,BMG_DS001953,Meconium Aspiration Syndrome | MeSH ID:D008471 | meconium aspiration syndrome | UMLS ID:C0025048 | MONDO:0006851 | DOID:11049 +BMGC_DS01550,BMG_DS001956,MeSH ID:D008478 | UMLS ID:C0025062 | Mediastinal Emphysema +BMGC_DS01551,BMG_DS001957,mediastinal cancer | UMLS ID:C0025063 | DOID:5559 | neoplasm of mediastinum | MONDO:0021386 +BMGC_DS01552,BMG_DS001958,MONDO:0004492 | ICD10 ID:J98.51 | Mediastinitis (disorder) | UMLS ID:C0025064 | SNOMEDCT ID:373409004 | Inflammatory disorder of mediastinum | mediastinitis | SNOMEDCT ID:47597000 | DOID:819 | MeSH ID:D008480 | Inflammatory disorder of mediastinum (disorder) | Mediastinitis +BMGC_DS01553,BMG_DS001959,UMLS ID:C0025149 | MONDO:0007959 | medulloblastoma | DOID:0050902 | OMIM ID:155255 +BMGC_DS01554,BMG_DS001960,UMLS ID:C0025160 | MONDO:0001273 | megacolon | DOID:11372 +BMGC_DS01555,BMG_DS001961,"UMLS ID:C0025162 | MONDO:0002105 | toxic megacolon | DOID:1770 | MeSH ID:D008532 | Megacolon, Toxic" +BMGC_DS01556,BMG_DS001962,DOID:13186 | Megaesophagus | UMLS ID:C0025164 | MONDO:0001656 | SNOMEDCT ID:70667005 | Megaoesophagus | Megaesophagus (disorder) | Esophageal Achalasia | megaesophagus | MeSH ID:D004931 +BMGC_DS01557,BMG_DS001963,MONDO:0019772 | Meige syndrome | DOID:3982 | MeSH ID:D008538 | Meige Syndrome | UMLS ID:C0025183 | blepharospasm-oromandibular dystonia syndrome +BMGC_DS01558,BMG_DS001965,MONDO:0002444 | UMLS ID:C0025193 | melancholia +BMGC_DS01559,BMG_DS001966,DOID:1909 | MONDO:0005105 | melanoma | UMLS ID:C0025202 +BMGC_DS01560,BMG_DS001967,SNOMEDCT ID:156438005 | SNOMEDCT ID:267870007 | SNOMEDCT ID:414662006 | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) | Melanosis (disorder) | SNOMEDCT ID:48010006 | Lentigo | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) (disorder) | Melanosis | Freckles | Dyschromia NOS | MeSH ID:D008548 | Melanosis (morphologic abnormality) | UMLS ID:C0025209 +BMGC_DS01561,BMG_DS001969,Melasma | ICD11 ID:ED60.1 | Chloasma | UMLS ID:C0025218 | Melanosis | SNOMEDCT ID:36209000 | ICD10 ID:L81.1 | Chloasma (disorder) | MeSH ID:D008548 +BMGC_DS01562,BMG_DS001970,"mal de Meleda | Keratoderma, Palmoplantar | OMIM ID:248300 | UMLS ID:C0025221 | MeSH ID:D007645 | Meleda Disease | MONDO:0009552" +BMGC_DS01563,BMG_DS001971,UMLS ID:C0025229 | Infection due to Pseudomonas pseudomallei | SNOMEDCT ID:34458001 | Infection due to Malleomyces pseudomallei | Whitmore's disease | MONDO:0017775 | Infection due to Burkholderia pseudomallei | Melioidosis | Pseudoglanders (disorder) | melioidosis | DOID:5052 | Infection due to Whitmore's bacillus | Pseudoglanders | SNOMEDCT ID:428111003 | MeSH ID:D008554 | Melioidosis (disorder) +BMGC_DS01564,BMG_DS001972,Melkersson-Rosenthal Syndrome | UMLS ID:C0025235 | DOID:1761 | OMIM ID:155900 | Melkersson-Rosenthal syndrome | MONDO:0007969 | MeSH ID:D008556 +BMGC_DS01565,BMG_DS001973,Osteochondrodysplasias | Melnick-Needles syndrome | Melnick-Needles Syndrome | UMLS ID:C0025237 | DOID:0111788 | MeSH ID:D010009 | OMIM ID:309350 | MONDO:0010650 +BMGC_DS01566,BMG_DS001974,Rheostosis | SNOMEDCT ID:44697002 | DOID:4253 | Osteopathia hyperostotica congenita | Melorheostosis (disorder) | UMLS ID:C0025239 | Flowing hyperostosis | Leri's disease | melorheostosis | OMIM ID:MTHU041350 | MeSH ID:D008557 | Melorheostosis | SNOMEDCT ID:240173003 | Candle wax disease +BMGC_DS01567,BMG_DS001975,multiple endocrine neoplasia type 1 | DOID:10017 | MONDO:0007540 | OMIM ID:131100 | UMLS ID:C0025267 +BMGC_DS01568,BMG_DS001976,DOID:0050430 | UMLS ID:C0025268 | MONDO:0008234 | multiple endocrine neoplasia type 2A | OMIM ID:171400 +BMGC_DS01569,BMG_DS001977,OMIM ID:162300 | multiple endocrine neoplasia type 2B | DOID:10016 | MONDO:0008082 | UMLS ID:C0025269 +BMGC_DS01570,BMG_DS001978,OMIM ID:156000 | Meniere disease | UMLS ID:C0025281 | Meniere's disease | Meniere Disease | MONDO:0007972 | DOID:9849 | MeSH ID:D008575 +BMGC_DS01571,BMG_DS001979,tumor of meninges | UMLS ID:C0025284 | MONDO:0016743 +BMGC_DS01572,BMG_DS001980,MONDO:0016642 | meningioma | DOID:3565 | UMLS ID:C0025286 +BMGC_DS01573,BMG_DS001981,UMLS ID:C0025289 | Meningitis (disorder) | MeSH ID:D008581 | OMIM ID:MTHU005994 | Meningitis | MONDO:0021108 | meningitis | SNOMEDCT ID:7180009 | DOID:9471 | SNOMEDCT ID:154983000 +BMGC_DS01574,BMG_DS001982,"aseptic meningitis | Meningitis, Aseptic | MeSH ID:D008582 | MONDO:0006662 | UMLS ID:C0025290 | DOID:12157 | Aseptic Meningitis" +BMGC_DS01575,BMG_DS001983,"MONDO:0000889 | MeSH ID:D008583 | UMLS ID:C0025292 | Meningitis, Haemophilus | DOID:0080179 | haemophilus meningitis" +BMGC_DS01576,BMG_DS001984,"Meningitis, Listeria | MeSH ID:D008584 | DOID:11572 | UMLS ID:C0025293 | Listeria meningitis | MONDO:0006836" +BMGC_DS01577,BMG_DS001985,UMLS ID:C0025294 | Epidemic meningitis | Meningococcal meningitis | SNOMEDCT ID:186363003 | Meningococcal meningitis (disorder) | SNOMEDCT ID:154307005 | SNOMEDCT ID:192644005 | Cerebrospinal meningitis | Meningococcal cerebrospinal fever | MONDO:0018059 | SNOMEDCT ID:28476005 | ICD11 ID:1C1C.0 | meningococcal meningitis | ICD10 ID:A39.0 +BMGC_DS01578,BMG_DS001986,"Meningitis, Pneumococcal | pneumococcal meningitis | MONDO:0006913 | UMLS ID:C0025295 | MeSH ID:D008586" +BMGC_DS01579,BMG_DS001987,"Meningitis - viral NOS | MONDO:0007015 | SNOMEDCT ID:58170007 | DOID:10310 | Aseptic meningitis, viral | ICD10 ID:A87 | Bacterial meningitis | Encephalitis - viral | Viral: [other CNS disease] or [encephalitis] or [meningitis (& [NOS])] (disorder) | viral meningitis | Abacterial meningitis | SNOMEDCT ID:154985007 | SNOMEDCT ID:154984006 | Viral meningitis | Viral: [other CNS disease] or [encephalitis] or [meningitis (& [NOS])] | SNOMEDCT ID:266190006 | SNOMEDCT ID:267680008 | Other CNS viral disease | Viral encephalitis | UMLS ID:C0025297 | Meningitis: [bacterial] or [viral] | Other central nervous system viral disease | Meningitis: [bacterial] or [viral] (disorder) | Meningitis, viral | Viral meningitis (disorder) | SNOMEDCT ID:154321007" +BMGC_DS01580,BMG_DS001988,(Spina bifida - no hydrocephalus) or (meningocele) or (myelocele) | Spina bifida -no hydrocephalus | MONDO:0001147 | Myelocele | SNOMEDCT ID:156890007 | Congenital meningocele | DOID:1088 | UMLS ID:C0025299 | Meningocele | Meningocele (disorder) | Congenital meningocele (disorder) | OMIM ID:MTHU049652 | SNOMEDCT ID:268308005 | SNOMEDCT ID:171131006 | (Spina bifida - no hydrocephalus) or (meningocele) or (myelocele) (disorder) | meningocele | SNOMEDCT ID:32941003 +BMGC_DS01581,BMG_DS001989,meningococcal infection | MeSH ID:D008589 | Meningococcal Infections | MONDO:0005373 | UMLS ID:C0025303 +BMGC_DS01582,BMG_DS001990,MeSH ID:D008589 | meningococcemia | Meningococcal Infections | MONDO:0042972 | UMLS ID:C0025306 | Meningococcal Septicemia +BMGC_DS01583,BMG_DS001991,OMIM ID:MTHU037268 | MONDO:0005845 | DOID:10554 | MeSH ID:D008590 | ICD10 ID:A69.22 | Meningoencephalitis | SNOMEDCT ID:7125002 | UMLS ID:C0025309 | Meningoencephalitis (disorder) | meningoencephalitis +BMGC_DS01584,BMG_DS001994,myelomeningocele | MONDO:0019773 | DOID:0060326 | UMLS ID:C0025312 +BMGC_DS01585,BMG_DS001995,SNOMEDCT ID:123756000 | UMLS ID:C0025319 | Menopausal syndrome (disorder) | Menopausal syndrome +BMGC_DS01586,BMG_DS001996,"premature menopause | Premature Menopause | Menopause, Premature | UMLS ID:C0025322 | MONDO:0001119 | DOID:10787 | MeSH ID:D008594" +BMGC_DS01587,BMG_DS001997,"MeSH ID:D008599 | Menstruation Disturbances | UMLS ID:C0025349 | Menstruation, Retrograde" +BMGC_DS01588,BMG_DS001998,DOID:1059 | UMLS ID:C0025362 | intellectual disability +BMGC_DS01589,BMG_DS001999,MONDO:0006854 | mesenchymoma | DOID:2668 | UMLS ID:C0025464 +BMGC_DS01590,BMG_DS002000,UMLS ID:C0025469 | MONDO:0001116 | mesenteric lymphadenitis | MeSH ID:D008640 | DOID:10782 | Mesenteric Lymphadenitis +BMGC_DS01591,BMG_DS002002,mesenteric vascular occlusion | Mesenteric Vascular Occlusion | MeSH ID:D008641 | MONDO:0006855 | UMLS ID:C0025472 | DOID:13252 +BMGC_DS01592,BMG_DS002003,mesonephric adenocarcinoma | DOID:4468 | MONDO:0005613 | clear cell adenocarcinoma | UMLS ID:C0025490 +BMGC_DS01593,BMG_DS002004,MONDO:0005065 | DOID:2645 | UMLS ID:C0025500 | benign mesothelioma | mesothelioma +BMGC_DS01594,BMG_DS002005,Metabolic Diseases | UMLS ID:C0025517 | MONDO:0005066 | MeSH ID:D008659 | metabolic disease | DOID:0014667 | disease of metabolism +BMGC_DS01595,BMG_DS002006,"MeSH ID:D008661 | UMLS ID:C0025521 | inherited metabolic disorder | DOID:655 | MONDO:0019052 | Inborn Errors of Metabolism | Metabolism, Inborn Errors | inborn errors of metabolism" +BMGC_DS01596,BMG_DS002007,"ICD11 ID:1F8Z | MONDO:0004666 | Infection caused by Metagonimus yokogawai (disorder) | Metagonimosis | Diseases due to trematodes, unspecified | Trematode Infections | SNOMEDCT ID:37832003 | Infection caused by Metagonimus yokogawai | metagonimiasis | Infection by Metagonimus yokogawai | MeSH ID:D014201 | UMLS ID:C0025530 | Metagonimiasis | DOID:884 | ICD10 ID:B66.8" +BMGC_DS01597,BMG_DS002008,"MONDO:0004689 | MeSH ID:D008664 | Metal Metabolism, Inborn Errors | UMLS ID:C0025534 | metal metabolism disorder | inborn metal metabolism disorder | DOID:896" +BMGC_DS01598,BMG_DS002009,Sulfemoglobinemia | SNOMEDCT ID:191386007 | DOID:10783 | MONDO:0001117 | Methemoglobinemia (disorder) | methemoglobinemia | OMIM ID:MTHU039706 | (Methaemoglobinaemia) or (Stokvis' disease) or (sulphaemoglobinaemia) (disorder) | Methaemoglobinaemia | Methemoglobinemia | (Methemoglobinemia) or (Stokvis' disease) or (sulfemoglobinemia) | ICD10 ID:D74 | SNOMEDCT ID:38959009 | MeSH ID:D008708 | UMLS ID:C0025637 | (Methaemoglobinaemia) or (Stokvis' disease) or (sulphaemoglobinaemia) | SNOMEDCT ID:267549008 | Stokvis' disease | Sulphaemoglobinaemia | Methaemoglobinaemia (disorder) +BMGC_DS01599,BMG_DS002010,"Microangiopathy, Diabetic | MeSH ID:D003925 | UMLS ID:C0025945 | Diabetic Angiopathies" +BMGC_DS01600,BMG_DS002011,DOID:10907 | isolated congenital microcephaly | UMLS ID:C0025958 | MONDO:0016056 | microcephaly +BMGC_DS01601,BMG_DS002012,microphthalmia | UMLS ID:C0026010 | MONDO:0021129 | DOID:10629 +BMGC_DS01602,BMG_DS002013,middle lobe syndrome | Middle Lobe Syndrome | DOID:2810 | MONDO:0005847 | MeSH ID:D008878 | UMLS ID:C0026069 +BMGC_DS01603,BMG_DS002014,Mikulicz' Disease | Mikulicz Disease | Mikulicz disease | DOID:12900 | MONDO:0019191 | MeSH ID:D008882 | IgG4-related dacryoadenitis and sialadenitis | UMLS ID:C0026103 +BMGC_DS01604,BMG_DS002015,MONDO:0006580 | SNOMEDCT ID:63951004 | Miliaria (disorder) | miliaria | MeSH ID:D008883 | DOID:1382 | Miliaria | UMLS ID:C0026113 +BMGC_DS01605,BMG_DS002017,Hypercalcemia | calcium-alkali syndrome | MONDO:0400002 | MeSH ID:D006934 | Milk-Alkali Syndrome | UMLS ID:C0026141 +BMGC_DS01606,BMG_DS002018,Poxviridae Infections | MeSH ID:D011213 | UMLS ID:C0026143 | DOID:8729 | Milker's Nodes | milker's nodule | MONDO:0005850 +BMGC_DS01607,BMG_DS002019,MONDO:0004389 | Mite Infestations | UMLS ID:C0026229 | MeSH ID:D008924 | DOID:7894 | mite infestation +BMGC_DS01608,BMG_DS002020,DOID:61 | MONDO:0003767 | mitral valve disease | UMLS ID:C0026265 | mitral valve disorder +BMGC_DS01609,BMG_DS002021,mitral valve insufficiency | MONDO:1030008 | DOID:11502 | MeSH ID:D008944 | UMLS ID:C0026266 | Mitral Valve Insufficiency +BMGC_DS01610,BMG_DS002022,mitral valve prolapse | Mitral Valve Prolapse | DOID:988 | MeSH ID:D008945 | Mitral Valve Prolapse Syndrome | MONDO:0004910 | UMLS ID:C0026267 +BMGC_DS01611,BMG_DS002023,MONDO:0005852 | DOID:1754 | mitral valve stenosis | Mitral Valve Stenosis | MeSH ID:D008946 | UMLS ID:C0026269 +BMGC_DS01612,BMG_DS002024,MeSH ID:D008947 | Mixed Connective Tissue Disease | UMLS ID:C0026272 | DOID:3492 | MONDO:0005854 | mixed connective tissue disease +BMGC_DS01613,BMG_DS002025,UMLS ID:C0026277 | DOID:452 | pleomorphic adenoma +BMGC_DS01614,BMG_DS002026,OMIM ID:252100 | orofaciodigital syndrome type II | UMLS ID:C0026363 | DOID:0060316 | MeSH ID:D009958 | Mohr Syndrome | orofaciodigital syndrome I | MONDO:0009642 | Orofaciodigital Syndromes +BMGC_DS01615,BMG_DS002027,MeSH ID:D008976 | DOID:8867 | molluscum contagiosum | MONDO:0005855 | Molluscum Contagiosum | UMLS ID:C0026393 +BMGC_DS01616,BMG_DS002028,MONDO:0004755 | monieziasis | MeSH ID:D008989 | UMLS ID:C0026414 | DOID:931 | Monieziasis +BMGC_DS01617,BMG_DS002030,monoclonal gammopathy of uncertain significance | UMLS ID:C0026470 | MONDO:0004225 +BMGC_DS01618,BMG_DS002031,DOID:2346 | UMLS ID:C0026471 | monoclonal paraproteinemia disease | monoclonal paraproteinemia | MONDO:0002274 +BMGC_DS01619,BMG_DS002033,morphine dependence | DOID:2560 | UMLS ID:C0026552 | MONDO:0005531 +BMGC_DS01620,BMG_DS002034,OMIM ID:158280 | UMLS ID:C0026603 | DOID:2951 | Motion Sickness | MeSH ID:D009041 | motion sickness | MONDO:0008015 +BMGC_DS01621,BMG_DS002035,UMLS ID:C0026618 | DOID:13711 | dental fluorosis | MONDO:0006722 +BMGC_DS01622,BMG_DS002036,mouth disorder | DOID:403 | MeSH ID:D009059 | mouth disease | MONDO:0006858 | Mouth Diseases | UMLS ID:C0026636 +BMGC_DS01623,BMG_DS002037,oral cavity neoplasm | UMLS ID:C0026640 | MONDO:0021245 +BMGC_DS01624,BMG_DS002038,UMLS ID:C0026650 | MeSH ID:D009069 | Movement Disorders | MONDO:0005395 | movement disorder | DOID:480 | movement disease +BMGC_DS01625,BMG_DS002039,DOID:13099 | Moyamoya disease | MeSH ID:D009072 | Moyamoya Disease | MONDO:0016820 | UMLS ID:C0026654 +BMGC_DS01626,BMG_DS002040,UMLS ID:C0026684 | Appendicular mucocele | Mucocoele of appendix | MONDO:0001671 | SNOMEDCT ID:53773002 | DOID:13248 | mucocele of appendix | Mucocele of appendix | Mucocele of appendix (disorder) +BMGC_DS01627,BMG_DS002041,DOID:12904 | UMLS ID:C0026686 | mucocele of salivary gland | MONDO:0001600 +BMGC_DS01628,BMG_DS002042,mucocutaneous lymph node syndrome | OMIM ID:611775 | MONDO:0012727 | UMLS ID:C0026691 | DOID:13378 | Kawasaki disease | Mucocutaneous Lymph Node Syndrome | MeSH ID:D009080 +BMGC_DS01629,BMG_DS002043,Mucolipidoses | glycoproteinosis | mucolipidosis | MeSH ID:D009081 | UMLS ID:C0026697 | MONDO:0019248 | DOID:3343 +BMGC_DS01630,BMG_DS002044,DOID:12798 | MONDO:0019249 | Mucopolysaccharidoses | mucopolysaccharidosis | MeSH ID:D009083 | UMLS ID:C0026703 +BMGC_DS01631,BMG_DS002045,MeSH ID:D016532 | mucopolysaccharidosis II | mucopolysaccharidosis type 2 | DOID:12799 | UMLS ID:C0026705 | Mucopolysaccharidosis II | MONDO:0010674 | OMIM ID:309900 +BMGC_DS01632,BMG_DS002046,UMLS ID:C0026706 | mucopolysaccharidosis type 3 | Mucopolysaccharidosis III | DOID:12801 | MeSH ID:D009084 | mucopolysaccharidosis III | MONDO:0018937 +BMGC_DS01633,BMG_DS002047,mucopolysaccharidosis IV | Mucopolysaccharidosis IV | DOID:12804 | mucopolysaccharidosis type 4 | MONDO:0018938 | MeSH ID:D009085 | UMLS ID:C0026707 +BMGC_DS01634,BMG_DS002048,MeSH ID:D008059 | Mucopolysaccharidosis I | OMIM ID:607016 | Mucopolysaccharidosis V | Scheie syndrome | MONDO:0011760 | UMLS ID:C0026708 +BMGC_DS01635,BMG_DS002049,OMIM ID:253200 | mucopolysaccharidosis type 6 | UMLS ID:C0026709 | MONDO:0009661 | mucopolysaccharidosis VI | Mucopolysaccharidosis VI | MeSH ID:D009087 | DOID:12800 +BMGC_DS01636,BMG_DS002050,SNOMEDCT ID:187098003 | DOID:8485 | Mucormycosis (disorder) | Zygomycosis | Zygomycosis (& [mucormycosis]) | Phycomycosis | Zygomycosis (& [mucormycosis]) (disorder) | mucormycosis | Mucormycosis | SNOMEDCT ID:76627001 | MeSH ID:D009091 | UMLS ID:C0026718 +BMGC_DS01637,BMG_DS002051,multiple carboxylase deficiency | UMLS ID:C0026755 | MeSH ID:D009100 | Multiple Carboxylase Deficiency | MONDO:0015454 | DOID:857 +BMGC_DS01638,BMG_DS002052,UMLS ID:C0026760 | multiple epiphyseal dysplasia | MONDO:0016648 | DOID:12721 +BMGC_DS01639,BMG_DS002053,OMIM ID:254500 | UMLS ID:C0026764 | multiple myeloma | plasma cell myeloma | DOID:9538 | MONDO:0009693 +BMGC_DS01640,BMG_DS002054,MONDO:0043726 | Multiple Organ Failure | MeSH ID:D009102 | multiple organ dysfunction syndrome | UMLS ID:C0026766 +BMGC_DS01641,BMG_DS002055,multiple sclerosis | DOID:2377 | UMLS ID:C0026769 | MeSH ID:D009103 | MONDO:0005301 | Multiple Sclerosis +BMGC_DS01642,BMG_DS002056,UMLS ID:C0026773 | DOID:10934 | MONDO:0001159 | multiple personality disorder +BMGC_DS01643,BMG_DS002057,MONDO:0000989 | mumps | ICD10 ID:B26 | Mumps (disorder) | UMLS ID:C0026780 | SNOMEDCT ID:36989005 | MeSH ID:D009107 | Mumps | mumps infectious disease | SNOMEDCT ID:154352008 | DOID:10264 +BMGC_DS01644,BMG_DS002058,muscular atrophy | DOID:767 | UMLS ID:C0026846 +BMGC_DS01645,BMG_DS002059,"UMLS ID:C0026847 | spinal muscular atrophy | MONDO:0001516 | Muscular Atrophy, Spinal | MeSH ID:D009134 | DOID:12377 | Spinal Muscular Atrophy" +BMGC_DS01646,BMG_DS002060,DOID:423 | MONDO:0005336;MONDO:0003939 | OMIM ID:MTHU003653 | Disorder of skeletal AND/OR smooth muscle | muscle tissue disorder | Myopathic disease | Muscular dystrophy &/or myopathies (disorder) | SNOMEDCT ID:129565002 | SNOMEDCT ID:267711006 | Disorder of muscle | Disorder of skeletal AND/OR smooth muscle (disorder) | Muscular Diseases | UMLS ID:C0026848 | SNOMEDCT ID:52794005 | Myopathy | MeSH ID:D009135 | Muscular dystrophy &/or myopathies | myopathy | Muscular dystrophy/myopathies | Myopathic syndrome | Myopathy (disorder) | SNOMEDCT ID:155094005 +BMGC_DS01647,BMG_DS002062,DOID:9884 | MeSH ID:D009136 | muscular dystrophy | UMLS ID:C0026850 | MONDO:0020121 | Muscular Dystrophies | Muscular Dystrophy +BMGC_DS01648,BMG_DS002063,"UMLS ID:C0026851 | muscular dystrophy, non-human animal | MeSH ID:D009137 | Muscular Dystrophy, Animal | MONDO:0024965" +BMGC_DS01649,BMG_DS002064,MeSH ID:D009140 | musculoskeletal system disease | musculoskeletal system disorder | Musculoskeletal Diseases | MONDO:0002081 | UMLS ID:C0026857 | DOID:17 +BMGC_DS01650,BMG_DS002065,Deaf mutism NOS | MeSH ID:D009155 | OMIM ID:MTHU001337 | (Mutism) or (deaf mutism NOS) | DOID:4189 | (Mutism) or (deaf mutism NOS) (disorder) | Muteness | MONDO:0002905 | UMLS ID:C0026884 | SNOMEDCT ID:88052002 | Mutism | mutism | Mutism (finding) | SNOMEDCT ID:267771000 +BMGC_DS01651,BMG_DS002066,OMIM ID:254200 | MeSH ID:D009157 | DOID:437 | Myasthenia Gravis | UMLS ID:C0026896 | myasthenia gravis | MONDO:0009688 +BMGC_DS01652,BMG_DS002068,MONDO:0005866 | Mycobacterium avium complex disease | MeSH ID:D015270 | Mycobacterium avium-intracellulare Infection | UMLS ID:C0026916 | DOID:2755 +BMGC_DS01653,BMG_DS002069,MONDO:0020590 | mycobacterial infectious disease | Mycobacterium Infections | UMLS ID:C0026918 | MeSH ID:D009164 +BMGC_DS01654,BMG_DS002070,"MeSH ID:D009165 | UMLS ID:C0026919 | Mycobacterium Infections, Nontuberculous" +BMGC_DS01655,BMG_DS002071,MeSH ID:D009175 | Mycoplasma Infections | UMLS ID:C0026936 +BMGC_DS01656,BMG_DS002073,Mycoses | Fungal infectious disease | Fungus infection | Disease caused by fungus | SNOMEDCT ID:187472001 | Fungal infection | SNOMEDCT ID:266214005 | Dermatophytosis | Ringworm | Tinea | SNOMEDCT ID:154394006 | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | fungal infectious disease | SNOMEDCT ID:3218000 | MONDO:0002041 | MeSH ID:D009181 | Dermatophytosis-tinea/ringworm | Mycotic disease | Fungal infections | Mycosis (disorder) | DOID:1564 | Mycosis | UMLS ID:C0026946 | Mycoses (disorder) | SNOMEDCT ID:154393000 | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder) +BMGC_DS01657,BMG_DS002074,MONDO:0009691 | UMLS ID:C0026948 | mycosis fungoides | OMIM ID:254400 | DOID:8691 +BMGC_DS01658,BMG_DS002075,"Myelitis | UMLS ID:C0026975 | Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis | Encephalomyelitis | Encephalitis &/or myelitis (disorder) | SNOMEDCT ID:192682002 | Myelitis (disorder) | SNOMEDCT ID:267682000 | SNOMEDCT ID:41370002 | Transverse myelitis | myelitis | MeSH ID:D009187 | Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis (disorder) | DOID:322 | Encephalitis | Encephalitis/myelitis | Encephalitis, myelitis and encephalomyelitis | MONDO:0002565 | Encephalitis &/or myelitis" +BMGC_DS01659,BMG_DS002076,"transverse myelitis | MeSH ID:D009188 | UMLS ID:C0026976 | Myelitis, Transverse | MONDO:0021553" +BMGC_DS01660,BMG_DS002077,myelofibrosis | UMLS ID:C0026987 | DOID:4971 | MONDO:0044903 +BMGC_DS01661,BMG_DS002078,UMLS ID:C0026998 | MONDO:0005224 | acute myeloid leukemia without maturation | acute myeloblastic leukemia without maturation | DOID:0081086 +BMGC_DS01662,BMG_DS002079,DOID:4960 | bone marrow cancer | UMLS ID:C0027022 +BMGC_DS01663,BMG_DS002080,SNOMEDCT ID:266225001 | Infestation caused by fly larvae | Other infect. and parasit.dis. | Other infectious and parasitic diseases | myiasis | MONDO:0019147 | Infestation by maggots | Fly larva infestation | Toxoplasmosis | DOID:11080 | MeSH ID:D009198 | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder) | UMLS ID:C0027030 | ICD10 ID:B87 | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | SNOMEDCT ID:60412004 | Myiasis | Infestation caused by fly larvae (disorder) | Myiasis - fly larvae infestation | Leech infestation | Maggot infestation | Infestation caused by maggots | SNOMEDCT ID:154423006 | Infestation by fly larvae +BMGC_DS01664,BMG_DS002086,benign granular cell tumor | DOID:5039 | myoblastoma | MONDO:0003250 | UMLS ID:C0027043 +BMGC_DS01665,BMG_DS002087,MONDO:0005068 | Myocardial Infarction | myocardial infarction | MeSH ID:D009203 | UMLS ID:C0027051 | DOID:5844 +BMGC_DS01666,BMG_DS002088,Myocarditis (disorder) | MeSH ID:D009205 | UMLS ID:C0027059 | SNOMEDCT ID:50920009 | Myocarditis | myocarditis | MONDO:0004496 | Myocardial inflammation | OMIM ID:MTHU056479 | DOID:820 +BMGC_DS01667,BMG_DS002089,MONDO:0004485 | UMLS ID:C0027060 | interstitial myocarditis | Interstitial myocarditis | SNOMEDCT ID:37925008 | Interstitial myocarditis (disorder) | DOID:817 +BMGC_DS01668,BMG_DS002091,DOID:2661 | myoepithelial tumor | UMLS ID:C0027070 | myoepithelioma | MONDO:0002380 +BMGC_DS01669,BMG_DS002092,MONDO:0006862 | Myofascial Pain Syndromes | DOID:431 | myofascial pain syndrome | MeSH ID:D009209 | UMLS ID:C0027073 +BMGC_DS01670,BMG_DS002093,MONDO:0003061 | UMLS ID:C0027086 | myoma | benign muscle neoplasm | DOID:2691 +BMGC_DS01671,BMG_DS002094,Myopia | UMLS ID:C0027092 | ICD11 ID:9D00.0 | SNOMEDCT ID:57190000 | DOID:11830 | ICD10 ID:H52.1 | MONDO:0001384 | OMIM ID:MTHU036427 | Nearsightedness | Myopia (disorder) | myopia | Near sighted | MeSH ID:D009216 | SNOMEDCT ID:155133003 +BMGC_DS01672,BMG_DS002095,DOID:4045 | UMLS ID:C0027095 | muscle cancer +BMGC_DS01673,BMG_DS002096,DOID:633 | ICD10 ID:M60 | OMIM ID:MTHU062042 | SNOMEDCT ID:26889001 | Inflammatory disorder of muscle | myositis disease | MONDO:0021167 | MeSH ID:D009220 | Myositis (disorder) | Inflammatory myopathy | myositis | Muscle inflammation | Myositis | UMLS ID:C0027121 +BMGC_DS01674,BMG_DS002097,UMLS ID:C0027122 | myositis ossificans | Myositis Ossificans | MONDO:0003964 | MeSH ID:D009221 | DOID:668 +BMGC_DS01675,BMG_DS002099,myotonic dystrophy type 1 | DOID:11722 | MeSH ID:D009223 | myotonic dystrophy | UMLS ID:C0027126 | MONDO:0016107 | Myotonic Dystrophy +BMGC_DS01676,BMG_DS002100,MeSH ID:D009224 | Batten-Turner congenital myopathy | MONDO:0100468;MONDO:0009710 | myotonia congenita | Thomsen and Becker disease | DOID:2106 | OMIM ID:255300 | Myotonia Congenita | UMLS ID:C0027127 +BMGC_DS01677,BMG_DS002101,SNOMEDCT ID:64741003 | Myotonic cataract | Myotonic cataract (disorder) | MONDO:0004495 | UMLS ID:C0027128 | myotonic cataract | DOID:82 +BMGC_DS01678,BMG_DS002103,SNOMEDCT ID:190274003 | Hypothyroidism-congen.+ acqui. | Myxoedema | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) (disorder) | Cretinism | Thyroid deficiency | Acquired hypothyroidism | Hypothyroidism | Myxedema (disorder) | Myxedema | MONDO:0009718 | Hypothyroidism - congenital and acquired (& [cretinism] or [myxedema]) | SNOMEDCT ID:154660000 | myxedema | OMIM ID:255900 | Hypothyroidism: &/or (acquired) | UMLS ID:C0027145 | MeSH ID:D009230 | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) | DOID:11634 | SNOMEDCT ID:43153006 | Hypothyroidism: &/or (acquired) (disorder) | Hypothyroidism - congenital and acquired | SNOMEDCT ID:267465007 +BMGC_DS01679,BMG_DS002106,UMLS ID:C0027155 | DOID:4136 | myxosarcoma | MONDO:0006863 +BMGC_DS01680,BMG_DS002109,MONDO:0002884 | nail disease | Nail Diseases | DOID:4123 | nail disorder | UMLS ID:C0027339 | MeSH ID:D009260 +BMGC_DS01681,BMG_DS002110,Nail-Patella Syndrome | UMLS ID:C0027341 | MONDO:0008061 | nail-patella syndrome | DOID:9467 | MeSH ID:D009261 | OMIM ID:161200 +BMGC_DS01682,BMG_DS002112,DOID:2745 | UMLS ID:C0027402 | MONDO:0002411 | narcissistic personality disorder +BMGC_DS01683,BMG_DS002113,narcolepsy | (CNS disorders NOS) or (narcolepsy) or (Ondine's curse) or (Schilder's disease) (disorder) | OMIM ID:MTHU039740 | MONDO:0021107 | SNOMEDCT ID:267702006 | Schilder's disease | Ondine's curse | MeSH ID:D009290 | SNOMEDCT ID:155059003 | SNOMEDCT ID:60380001 | ICD10 ID:G47.41 | (CNS disorders NOS) or (narcolepsy) or (Ondine's curse) or (Schilder's disease) | Paroxysmal sleep | Narcoleptic syndrome | Narcolepsy | Narcolepsy (disorder) | CNS disorders NOS | UMLS ID:C0027404 | DOID:8986 | Gelineau's syndrome +BMGC_DS01684,BMG_DS002114,nasal cavity polyp | MONDO:0006314 | UMLS ID:C0027430 +BMGC_DS01685,BMG_DS002116,Nasopharyngeal Diseases | MeSH ID:D009302 | DOID:9561 | UMLS ID:C0027438 | MONDO:0004821 | nasopharyngeal disease | nasopharyngeal disorder +BMGC_DS01686,BMG_DS002117,MONDO:0005375 | nasopharyngeal neoplasm | UMLS ID:C0027439 +BMGC_DS01687,BMG_DS002118,nasopharyngitis | Nasopharyngitis (disorder) | MeSH ID:D009304 | UMLS ID:C0027441 | Nasopharyngitis | DOID:10460 | Rhinopharyngitis | MONDO:0001040 | SNOMEDCT ID:51476001 +BMGC_DS01688,BMG_DS002119,MONDO:0008532 | OMIM ID:187050 | UMLS ID:C0027443 | teeth present at birth +BMGC_DS01689,BMG_DS002120,UMLS ID:C0027528 | MeSH ID:D009332 | SNOMEDCT ID:36667009 | ICD11 ID:1F68.1 | Necatorosis | necatoriasis | Necatoriasis (disorder) | DOID:2790 | Necatoriasis | ICD10 ID:B76.1 | MONDO:0005870 +BMGC_DS01690,BMG_DS002124,MeSH ID:D009335 | UMLS ID:C0027538 | MONDO:0006583 | Necrobiosis Lipoidica | necrobiosis lipoidica | DOID:3486 +BMGC_DS01691,BMG_DS002125,avascular necrosis | Avascular necrosis of bone (disorder) | AVN (avascular necrosis) of bone | SNOMEDCT ID:156837008 | Bone necrosis | Aseptic necrosis of bone | MONDO:0018373 | AVN - Avascular necrosis of bone | DOID:10159 | UMLS ID:C0027543 | Avascular necrosis of bone | Osteonecrosis | osteonecrosis | SNOMEDCT ID:397758007 | Aseptic necrosis of bone (disorder) | SNOMEDCT ID:34686004 | Aseptic necrosis +BMGC_DS01692,BMG_DS002127,UMLS ID:C0027577 | DOID:4968 | Nelson syndrome +BMGC_DS01693,BMG_DS002129,"Helminthiasis | Infections, Nematomorpha | MeSH ID:D006373 | UMLS ID:C0027585" +BMGC_DS01694,BMG_DS002130,Neonatal withdrawal syndrome | UMLS ID:C0027609 | Neonatal substance withdrawal syndrome | neonatal abstinence syndrome | Neonatal abstinence syndrome (disorder) | MeSH ID:D009357 | Neonatal abstinence syndrome | SNOMEDCT ID:414819007 | Neonatal Abstinence Syndrome | Substance withdrawal syndrome in newborn | Substance withdrawal syndrome in neonate of dependent mother | Neonatal withdrawal symptoms from maternal use of drugs of addiction | DOID:9828 | MONDO:0005566 +BMGC_DS01695,BMG_DS002131,UMLS ID:C0027611 | DOID:9699 | Neonatal dacryocystitis and conjunctivitis (disorder) | SNOMEDCT ID:206345004 | Neonatal dacryocystitis and conjunctivitis | ophthalmia neonatorum +BMGC_DS01696,BMG_DS002132,"UMLS ID:C0027612 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | MeSH ID:D009358" +BMGC_DS01697,BMG_DS002134,MONDO:0005070 | UMLS ID:C0027651 | neoplasm +BMGC_DS01698,BMG_DS002135,embryonal neoplasm | embryonal cancer | DOID:688 | UMLS ID:C0027654 | MONDO:0005564 +BMGC_DS01699,BMG_DS002136,DOID:201 | MONDO:0021581 | UMLS ID:C0027656 | connective tissue neoplasm | connective tissue cancer +BMGC_DS01700,BMG_DS002137,UMLS ID:C0027658 | DOID:3095 | germ cell and embryonal cancer +BMGC_DS01701,BMG_DS002138,multiple endocrine neoplasia | UMLS ID:C0027662 | 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,hereditary neoplastic syndrome | UMLS ID:C0027672 | MONDO:0015356 +BMGC_DS01705,BMG_DS002143,MONDO:0001166 | Nephritis | MeSH ID:D009393 | Nephritis (disorder) | OMIM ID:MTHU036910 | UMLS ID:C0027697 | DOID:10952 | nephritis | SNOMEDCT ID:52845002 | ICD10 ID:N08 +BMGC_DS01706,BMG_DS002144,Benign familial haematuria | SNOMEDCT ID:399340005 | Hereditary nephritis | Alport syndrome | DOID:10983 | Familial haematuria | MONDO:0005334 | GN - Hereditary glomerulonephritis | hereditary nephritis | Benign familial hematuria | Hereditary nephritis (disorder) | SNOMEDCT ID:57333009 | Hereditary glomerulonephritis | Non-progressive hereditary glomerulonephritis | Familial hematuria | UMLS ID:C0027706 | Alport's syndrome | Familial nephritis +BMGC_DS01707,BMG_DS002145,"UMLS ID:C0027707 | MeSH ID:D009395 | interstitial nephritis | DOID:1063 | Nephritis, Interstitial" +BMGC_DS01708,BMG_DS002146,UMLS ID:C0027708 | MONDO:0006058 | DOID:2154 | nephroblastoma | Wilms tumor +BMGC_DS01709,BMG_DS002147,"SNOMEDCT ID:190863003 | Calcinosis | Phosphorus disorder | Phosphorus, calcium disorders | nephrocalcinosis | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | SNOMEDCT ID:48638002 | Nephrocalcinosis (disorder) | (Disorders of calcium metabolism [& calcinosis]) or (nephrocalcinosis) (disorder) | MeSH ID:D009397 | Hypercalcinuria | UMLS ID:C0027709 | Hypocalcemia | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder) | Disorders of calcium metabolism | Hypercalcemia | Hypocalcaemia | MONDO:0001567 | Hypercalcaemia | Nephrocalcinosis | SNOMEDCT ID:154752005 | SNOMEDCT ID:267505006 | DOID:12679 | (Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Calcium disorder | OMIM ID:MTHU005829 | (Disorders of calcium metabolism [& calcinosis]) or (nephrocalcinosis) | Phosphorus and calcium disorders" +BMGC_DS01710,BMG_DS002148,Nephrosclerosis | Hypertensive renal disease (& [nephrosclerosis]) | Nephrosclerosis (disorder) | MeSH ID:D009400 | UMLS ID:C0027719 | Renal arteriosclerosis | Interstitial arteriosclerotic nephritis | SNOMEDCT ID:32916005 | Chronic arteriosclerotic nephritis | Hypertensive renal disease | SNOMEDCT ID:194773000 | Hypertensive nephropathy | MONDO:0006044 | DOID:11664 | Hypertensive renal disease (& [nephrosclerosis]) (disorder) | nephrosclerosis | OMIM ID:MTHU036895 | Renal sclerosis | Arteriosclerosis of kidney +BMGC_DS01711,BMG_DS002149,Disease of kidney | Kidney disease | Nephropathy | OMIM ID:MTHU017719 | Renal disease | Kidney disease (disorder) | Disorder of kidney | MeSH ID:D009401 | SNOMEDCT ID:90708001 | nephrosis | UMLS ID:C0027720 | Nephrosis | MONDO:0002331 | Renal disorder | DOID:2527 +BMGC_DS01712,BMG_DS002150,DOID:10966 | Minimal change glomerulonephritis | Nephrotic syndrome (& [minimal change glomerulonephritis] or [steroid sensitive]) (disorder) | SNOMEDCT ID:197592009 | Nephrotic syndrome with minimal change glomerulonephritis | Lipid nephrosis | Minimal change disease | MONDO:0006835 | Lipoid nephrosis | MCGN - Minimal change glomerulonephritis | MCD - Minimal change disease | Nephrotic syndrome (& [minimal change glomerulonephritis] or [steroid sensitive]) | Minimal change disease (disorder) | SNOMEDCT ID:44785005 | Nil disease | Minimal change nephropathy | lipoid nephrosis | Steroid sensitive nephrotic syndrome | Minimal change nephrotic syndrome | UMLS ID:C0027721 | MCN - Minimal change nephropathy | Light negative glomerulonephritis | MCNS - Minimal change nephrotic syndrome +BMGC_DS01713,BMG_DS002151,nephrotic syndrome | MONDO:0005377 | Nephrotic Syndrome | MeSH ID:D009404 | UMLS ID:C0027726 | 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,nervous system disease | DOID:863 | MONDO:0005071 | nervous system disorder | UMLS ID:C0027765 +BMGC_DS01717,BMG_DS002156,DOID:13317 | SNOMEDCT ID:42681006 | Islet cell hyperplasia (disorder) | MeSH ID:D046768 | Pancreatic endocrine cell hyperplasia | UMLS ID:C0027773 | Nesidioblastosis | Islet cell hyperplasia | hyperinsulinemic hypoglycemia +BMGC_DS01718,BMG_DS002157,UMLS ID:C0027794 | MONDO:0018075 | neural tube defect +BMGC_DS01719,BMG_DS002158,MONDO:0021667 | neuralgia | UMLS ID:C0027796 +BMGC_DS01720,BMG_DS002160,UMLS ID:C0027809 | DOID:3192 | schwannoma | neurilemmoma | MONDO:0002546 +BMGC_DS01721,BMG_DS002161,UMLS ID:C0027813 | Inflammatory neuropathy | MONDO:0002122 | DOID:1803 | Neuritis | SNOMEDCT ID:84299009 | SNOMEDCT ID:123254001 | MeSH ID:D009443 | Inflammatory neuropathy (disorder) | neuritis | SNOMEDCT ID:247378004 | Neuritis (disorder) | SNOMEDCT ID:21018002 +BMGC_DS01722,BMG_DS002162,neuroblastoma | MONDO:0005072 | DOID:769 | UMLS ID:C0027819 +BMGC_DS01723,BMG_DS002163,neurocirculatory asthenia | UMLS ID:C0027821 | Neurocirculatory Asthenia | DOID:11569 | MeSH ID:D009449 +BMGC_DS01724,BMG_DS002164,DOID:3309 | UMLS ID:C0027822 | MONDO:0006585 | Neurodermatitis (disorder) | MeSH ID:D009450 | neurodermatitis | SNOMEDCT ID:267854005 | SNOMEDCT ID:156383005 | Neurodermatitis +BMGC_DS01725,BMG_DS002165,neurofibroma | MONDO:0016755 | DOID:962 | UMLS ID:C0027830 +BMGC_DS01726,BMG_DS002166,OMIM ID:162200 | MONDO:0018975 | DOID:0111253 | neurofibromatosis type 1 | UMLS ID:C0027831 | neurofibromatosis 1 +BMGC_DS01727,BMG_DS002167,DOID:0111252 | NF2-related schwannomatosis | OMIM ID:101000 | MONDO:0007039 | vestibular schwannomatosis | UMLS ID:C0027832 +BMGC_DS01728,BMG_DS002168,DOID:14464 | UMLS ID:C0027849 | MONDO:0019790 | Neuroleptic Malignant Syndrome | MeSH ID:D009459 | neuroleptic malignant syndrome +BMGC_DS01729,BMG_DS002169,UMLS ID:C0027858 | DOID:2001 | MONDO:0002173 | neuroma +BMGC_DS01730,BMG_DS002170,acoustic neuroma | UMLS ID:C0027859 | DOID:12689 | MONDO:0001569 +BMGC_DS01731,BMG_DS002171,Neuromuscular Diseases | DOID:440 | UMLS ID:C0027868 | MeSH ID:D009468 | MONDO:0019056 | neuromuscular disease +BMGC_DS01732,BMG_DS002172,Neuromyelitis Optica | neuromyelitis optica | MONDO:0019100 | UMLS ID:C0027873 | DOID:8869 | MeSH ID:D009471 +BMGC_DS01733,BMG_DS002173,neuronal ceroid lipofuscinosis | MeSH ID:D009472 | DOID:14503 | MONDO:0016295 | UMLS ID:C0027877 | Neuronal Ceroid-Lipofuscinoses +BMGC_DS01734,BMG_DS002174,neuronitis | UMLS ID:C0027881 | DOID:8117 | MONDO:0004466 +BMGC_DS01735,BMG_DS002175,MONDO:0015358 | Hereditary Sensory and Motor Neuropathy | DOID:2477 | MeSH ID:D015417 | UMLS ID:C0027888 | motor peripheral neuropathy | Hereditary Motor and Sensory Neuropathies | hereditary motor and sensory neuropathy +BMGC_DS01736,BMG_DS002176,hereditary sensory and autonomic neuropathy | Hereditary Sensory and Autonomic Neuropathies | UMLS ID:C0027889 | MeSH ID:D009477 | DOID:0050548 | MONDO:0015364 | hereditary sensory neuropathy +BMGC_DS01737,BMG_DS002177,Tabes dorsalis | GPI-general paralysis insane | Neurosyphilis (& [GPI] or [tabes dorsalis]) (disorder) | SNOMEDCT ID:154384001 | SNOMEDCT ID:26039008 | Neurosyphilis | Neurosyphilis (& [GPI] or [tabes dorsalis]) | tertiary neurosyphilis | UMLS ID:C0027927 | SNOMEDCT ID:266210001 | GPI - General paresis of the insane | DOID:9988 | Syphilis of central nervous system | neurosyphilis | MeSH ID:D009494 | SNOMEDCT ID:186884004 | Neurosyphilis (disorder) | MONDO:0004944 +BMGC_DS01738,BMG_DS002178,DOID:4964 | neurotic disorder | UMLS ID:C0027932 | MONDO:0005379 +BMGC_DS01739,BMG_DS002179,DOID:1227;DOID:0050590 | Neutropenic disorder (disorder) | Agranulocytosis | (Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) | neutropenia | OMIM ID:MTHU001686 | SNOMEDCT ID:72885007 | Kostmann's syndrome | severe congenital neutropenia | Neutropenia | Neutropenia (finding) | SNOMEDCT ID:303011007 | MeSH ID:D009503 | SNOMEDCT ID:142928004 | Neutropenia (disorder) | UMLS ID:C0027947 | (Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) (disorder) | Neutropenic disorder | SNOMEDCT ID:191336001 | ICD10 ID:D70 +BMGC_DS01740,BMG_DS002181,UMLS ID:C0027962 | MONDO:0005073 | melanocytic nevus +BMGC_DS01741,BMG_DS002182,MeSH ID:D009521 | Newcastle disease | UMLS ID:C0027983 | Newcastle Disease | DOID:2929 | MONDO:0005875 +BMGC_DS01742,BMG_DS002183,UMLS ID:C0028043 | DOID:0050742 | nicotine dependence | MONDO:0008575 +BMGC_DS01743,BMG_DS002184,MONDO:0001982 | Niemann-Pick disease | Niemann-Pick Diseases | UMLS ID:C0028064 | DOID:14504 | MeSH ID:D009542 +BMGC_DS01744,BMG_DS002185,Nyctalopia | night blindness | DOID:8499 | Day blindness | Hemeralopia | Night blindness | UMLS ID:C0028077 | Night blindness (disorder) | Night Blindness | OMIM ID:MTHU008883 | Difficulty seeing at night | MONDO:0004588 | MeSH ID:D009755 | SNOMEDCT ID:75390007 | SNOMEDCT ID:65194006 | Day blindness (disorder) +BMGC_DS01745,BMG_DS002186,MeSH ID:D009617 | MONDO:0017776 | DOID:2312 | Nocardia Infections | UMLS ID:C0028242 | nocardiosis +BMGC_DS01746,BMG_DS002188,UMLS ID:C0028253 | DOID:14116 | multiple symmetric lipomatosis +BMGC_DS01747,BMG_DS002190,"MeSH ID:D009625 | ICD10 ID:A69.0 | ICD11 ID:1C1H.Z | Noma (& [cancrum oris] or [gangrenous stomatitis]) (disorder) | UMLS ID:C0028271 | Necrotising ulcerative gingivitis, unspecified | Cancrum oris (disorder) | Cancrum oris | Gangrenous stomatitis | Noma (& [cancrum oris] or [gangrenous stomatitis]) | DOID:9672 | noma | SNOMEDCT ID:18116006 | SNOMEDCT ID:196528007 | Acute gangrenous stomatitis | MONDO:0017124 | Noma" +BMGC_DS01748,BMG_DS002193,Noonan Syndrome | UMLS ID:C0028326 | DOID:3490 | Noonan syndrome | MONDO:0018997 | MeSH ID:D009634 +BMGC_DS01749,BMG_DS002194,Crusted scabies (disorder) | MONDO:0001951 | SNOMEDCT ID:128870005 | Crusted scabies | UMLS ID:C0028425 | norwegian scabies | DOID:14374 | Norwegian scabies +BMGC_DS01750,BMG_DS002195,nasal disorder | MeSH ID:D009668 | Nose Diseases | MONDO:0002436 | DOID:2825 | UMLS ID:C0028432 | nose disease +BMGC_DS01751,BMG_DS002198,Nycturia | OMIM ID:MTHU037390 | Finding of nocturia (finding) | UMLS ID:C0028734 | Nocturia - finding | ICD10 ID:R35.1 | Nocturia | Nocturia (finding) | MeSH ID:D053158 | Finding of nocturia | SNOMEDCT ID:139394000 | SNOMEDCT ID:6408001 +BMGC_DS01752,BMG_DS002199,MONDO:0004843 | Nystagmus (disorder) | SNOMEDCT ID:563001 | SNOMEDCT ID:267750005 | Congenital nystagmus | UMLS ID:C0028738 | Nystagmus (& [congenital]) | pathologic nystagmus | SNOMEDCT ID:155205009 | Nystagmus (& [congenital]) (disorder) | Nystagmus and other irregular eye movements | DOID:9650 | OMIM ID:MTHU000235 | ICD10 ID:H55.0 | SNOMEDCT ID:194171007 | Nystagmus &/or other irregular eye movements (disorder) | Nystagmus | Nystagmus &/or other irregular eye movements +BMGC_DS01753,BMG_DS002200,Adiposity (disorder) | MONDO:0011122 | SNOMEDCT ID:5476005 | SNOMEDCT ID:414916001 | SNOMEDCT ID:190963004 | SNOMEDCT ID:154776002 | Adiposis | Adiposity | Calorie overload | MeSH ID:D009765 | UMLS ID:C0028754 | obesity | DOID:9970 | OMIM ID:MTHU000250 | obesity disorder | Simple obesity | Obesity (disorder) | Obesity +BMGC_DS01754,BMG_DS002201,SNOMEDCT ID:238136002 | morbid obesity | SNOMEDCT ID:389986000 | Morbid obesity | Morbid obesity (disorder) | DOID:11981 | SNOMEDCT ID:190967003 | OMIM ID:MTHU051042 | UMLS ID:C0028756 | MONDO:0005139 +BMGC_DS01755,BMG_DS002202,UMLS ID:C0028768 | MONDO:0008114 | obsessive-compulsive disorder | OMIM ID:164230 | DOID:10933 +BMGC_DS01756,BMG_DS002203,cerebral artery occlusion | MONDO:0000944 | UMLS ID:C0028790 | DOID:10127 +BMGC_DS01757,BMG_DS002204,"DOID:4404 | UMLS ID:C0028796 | MeSH ID:D009783 | occupational dermatitis | Dermatitis, Occupational | MONDO:0006589" +BMGC_DS01758,BMG_DS002205,Occupational Diseases | MONDO:0100366 | MeSH ID:D009784 | occupational disorder | UMLS ID:C0028797 +BMGC_DS01759,BMG_DS002206,"ochronosis | ochronosis disorder | UMLS ID:C0028817 | Pigmentation due to alkaptonuria | Alcaptonuric ochronosis | Ochronosis due to homogentisate 1,2-dioxygenase deficiency | Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder) | MeSH ID:D009794 | DOID:14223 | Ochronosis | Ochronosis due to alkaptonuria | Ochronosis (disorder) | SNOMEDCT ID:410042009 | MONDO:0001910 | ICD10 ID:E70.29 | Alkaptonuric ochronosis | SNOMEDCT ID:21924005" +BMGC_DS01760,BMG_DS002207,MONDO:0006875 | Ocular Hypertension | MeSH ID:D009798 | DOID:9282 | ocular hypertension | UMLS ID:C0028840 +BMGC_DS01761,BMG_DS002208,MONDO:0004390 | ocular hypotension | MeSH ID:D015814 | Ocular Hypotension | DOID:790 | UMLS ID:C0028841 +BMGC_DS01762,BMG_DS002210,MONDO:0001584 | Ocular Motility Disorders | DOID:1279 | MeSH ID:D015835 | ocular motility disease | UMLS ID:C0028850 +BMGC_DS01763,BMG_DS002211,Ocular Motility Disorders | UMLS ID:C0028856 | Ocular Torticollis | MeSH ID:D015835 +BMGC_DS01764,BMG_DS002212,MeSH ID:D009800 | OMIM ID:309000 | DOID:1056 | MONDO:0010645 | UMLS ID:C0028860 | oculocerebrorenal syndrome | Oculocerebrorenal Syndrome +BMGC_DS01765,BMG_DS002213,Oculomotor Nerve Diseases | UMLS ID:C0028866 | oculomotor nerve paralysis | MeSH ID:D015840 | MONDO:0001309 | DOID:11550 | Oculomotor Nerve Paralysis +BMGC_DS01766,BMG_DS002217,Nodular worm disease | Infection by Oesophagostomum (disorder) | DOID:3983 | MONDO:0005880 | UMLS ID:C0028887 | MeSH ID:D009814 | Infection by Oesophagostomum | oesophagostomiasis | SNOMEDCT ID:22500005 | Oesophagostomiasis +BMGC_DS01767,BMG_DS002218,MONDO:0016695 | oligodendroglioma | UMLS ID:C0028945 +BMGC_DS01768,BMG_DS002219,oligospermia | MONDO:0001913 | Oligospermia | DOID:14228 | UMLS ID:C0028960 | MeSH ID:D009845 | ICD10 ID:N46.1 +BMGC_DS01769,BMG_DS002220,Oliguria | SNOMEDCT ID:139461002 | OMIM ID:MTHU076561 | MeSH ID:D009846 | Oliguria (finding) | Oligouria | Passes too little urine | SNOMEDCT ID:83128009 | UMLS ID:C0028961 +BMGC_DS01770,BMG_DS002221,Olivopontocerebellar Atrophies | MeSH ID:D009849 | olivopontocerebellar atrophy | UMLS ID:C0028968 | DOID:14784 | MONDO:0002017 +BMGC_DS01771,BMG_DS002224,UMLS ID:C0029001 | Onchocerciasis | Infection by Onchocerca volvulus | MeSH ID:D009855 | Infection caused by Onchocerca volvulus (disorder) | MONDO:0017137 | onchocerciasis | Infection caused by Onchocerca volvulus | ICD10 ID:B73 | Onchocercosis | DOID:11678 | SNOMEDCT ID:38539003 +BMGC_DS01772,BMG_DS002226,oophoritis | Chronic pelvic inflam. dis.NOS | SNOMEDCT ID:266648001 | SNOMEDCT ID:76047005 | Oophoritis (disorder) | UMLS ID:C0029051 | SNOMEDCT ID:155968004 | Oophoritis | Salpingitis | Inflam. dis.- pelvic | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) (disorder) | DOID:10974 | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) | Inflammation of ovary | Pelvic inflammatory disease | MONDO:0006877 | MeSH ID:D009869 +BMGC_DS01773,BMG_DS002227,ophthalmia neonatorum | MONDO:0004854 | UMLS ID:C0029076 | DOID:9699 +BMGC_DS01774,BMG_DS002228,"Ophthalmia, Sympathetic | DOID:12029 | UMLS ID:C0029077 | MONDO:0019198 | MeSH ID:D009879 | sympathetic ophthalmia" +BMGC_DS01775,BMG_DS002229,UMLS ID:C0029089 | DOID:539 | MONDO:0003425 | ophthalmoplegia +BMGC_DS01776,BMG_DS002230,opioid abuse | DOID:11206 | UMLS ID:C0029095 | MONDO:0001225 +BMGC_DS01777,BMG_DS002231,DOID:13768 | UMLS ID:C0029106 | Opisthorchiasis | SNOMEDCT ID:187124006 | MONDO:0005884 | MeSH ID:D009889 | Opisthorchiasis (disorder) | Opisthorchiasis (& [cat liver fluke infection]) | SNOMEDCT ID:1059007 | Opisthorchiasis (& [cat liver fluke infection]) (disorder) | opisthorchiasis | Cat liver fluke infection | ICD11 ID:1F84 | Opisthorchiosis | ICD10 ID:B66.0 +BMGC_DS01778,BMG_DS002233,SNOMEDCT ID:78999002 | MONDO:0002312 | UMLS ID:C0029119 | Opportunistic mycosis | opportunistic mycosis | DOID:2473 | Opportunistic mycosis (disorder) +BMGC_DS01779,BMG_DS002234,oppositional defiant disorder | MONDO:0000495 | UMLS ID:C0029121 +BMGC_DS01780,BMG_DS002235,UMLS ID:C0029124 | MONDO:0003608 | DOID:5723 | MeSH ID:D009896 | Optic Atrophy | optic atrophy +BMGC_DS01781,BMG_DS002236,"UMLS ID:C0029125 | MeSH ID:D015418 | hereditary optic atrophy | Optic Atrophies, Hereditary | MONDO:0043878" +BMGC_DS01782,BMG_DS002237,optic disk drusen | DOID:13561 | MeSH ID:D015594 | Optic Disk Drusen | UMLS ID:C0029128 | MONDO:0001746 +BMGC_DS01783,BMG_DS002238,Disorder of optic nerve (disorder) | SNOMEDCT ID:194037001 | Visual path disorder | Disorder of optic nerve | optic nerve disease | Disorders of the second nerve | Disorders of optic nerve and visual pathways | UMLS ID:C0029132 | Disorders of optic nerve &/or visual pathways (disorder) | Optic nerve disorders | DOID:1891 | SNOMEDCT ID:77157004 | Disorders of optic nerve &/or visual pathways | Optic neuropathy | Disorders of the IInd cranial nerve +BMGC_DS01784,BMG_DS002239,optic neuritis | Optic Neuritis | UMLS ID:C0029134 | MeSH ID:D009902 | MONDO:0005885 | DOID:1210 +BMGC_DS01785,BMG_DS002240,UMLS ID:C0029171 | DOID:5773 | oral submucous fibrosis +BMGC_DS01786,BMG_DS002241,UMLS ID:C0029172 | MeSH ID:D009914 | oral submucous fibrosis | Oral Submucous Fibrosis | DOID:5773 | MONDO:0018166 +BMGC_DS01787,BMG_DS002242,Orbital Diseases | MONDO:0004751 | DOID:930 | orbital disease | disease of orbital part of eye adnexa | MeSH ID:D009916 | UMLS ID:C0029182 +BMGC_DS01788,BMG_DS002243,orbit neoplasm | MONDO:0024611 | orbital cancer | DOID:4143 | UMLS ID:C0029185 +BMGC_DS01789,BMG_DS002244,SNOMEDCT ID:367112009 | SNOMEDCT ID:197984006 | MeSH ID:D009920 | SNOMEDCT ID:29077001 | Orchitis (disorder) | Non-specific orchitis | orchitis | SNOMEDCT ID:274718005 | Inflammation of testis | DOID:2518 | UMLS ID:C0029191 | MONDO:0006882 | Orchitis | ICD10 ID:N45.2 +BMGC_DS01790,BMG_DS002245,SNOMEDCT ID:2776000 | Acute organic reaction | ABS - Acute brain syndrome | Delirium | Organic brain syndrome (disorder) | OBS - Organic brain syndrome | Acute psycho-organic syndrome | Acute brain syndrome | Delirium (disorder) | Acute confusional state | SNOMEDCT ID:40101002 | UMLS ID:C0029221 | Organic brain syndrome +BMGC_DS01791,BMG_DS002246,UMLS ID:C0029227 | DOID:1561 | cognitive disorder +BMGC_DS01792,BMG_DS002248,ornithosis | DOID:11262 | Chlamydia psittaci infection | Psittacosis | Parrot fever | MeSH ID:D009956 | SNOMEDCT ID:75116005 | SNOMEDCT ID:186653003 | SNOMEDCT ID:154369005 | Parrot fever due to Chlamydia psitacci | MONDO:0005888 | Psittacosis (disorder) | ICD10 ID:A70 | UMLS ID:C0029291 | Ornithosis (disorder) | Ornithosis +BMGC_DS01793,BMG_DS002249,MeSH ID:D009958 | orofaciodigital syndrome | MONDO:0015375 | orofaciodigital syndrome I | UMLS ID:C0029294 | DOID:0060316;DOID:4501 | Orofaciodigital Syndromes +BMGC_DS01794,BMG_DS002250,UMLS ID:C0029295 | MONDO:0021364 | neoplasm of oropharynx +BMGC_DS01795,BMG_DS002252,MeSH ID:D009976 | Orthomyxoviridae Infections | UMLS ID:C0029342 +BMGC_DS01796,BMG_DS002253,Juvenile osteochondrosis of tibial tubercle (disorder) | Juvenile osteochondrosis of tibial tubercle | Osgood Schlatter disease | UMLS ID:C0029376 | Osgood-Schlatter disease | DOID:7489 | SNOMEDCT ID:72047008 | Osgood-Schlatter's disease | Osgood Schlatters disease | MONDO:0004241 +BMGC_DS01797,BMG_DS002254,Inflammation of bone | Bone inflammatory disease | Osteitis (disorder) | DOID:3342 | SNOMEDCT ID:274144001 | SNOMEDCT ID:44462005 | Osteitis | MeSH ID:D010000 | Bone inflammatory disease (disorder) | UMLS ID:C0029400 | Inflammatory disorder of bone | MONDO:0002614 | bone inflammation disease +BMGC_DS01798,BMG_DS002255,UMLS ID:C0029401 | Paget's disease of bone | MeSH ID:D010001 | DOID:5408 | Osteitis Deformans | bone Paget disease | MONDO:0005382 +BMGC_DS01799,BMG_DS002256,DOID:3341 | MONDO:0005890 | UMLS ID:C0029405 | osteitis fibrosa | Osteitis Fibrosa Cystica | MeSH ID:D010002 +BMGC_DS01800,BMG_DS002257,Degenerative polyarthritis | Osteoarthrosis | OA - Osteoarthritis | Osteoarthrosis deformans | MONDO:0005178 | OA - Osteoarthrosis | SNOMEDCT ID:80843008 | Proliferative arthritis | Degenerative arthritis | SNOMEDCT ID:225655006 | Osteoarthritis deformans | Hypertrophic polyarthritis | Degenerative polyarthritis (disorder) | osteoarthritis | Hypertrophic arthritis | Degenerative joint disease | SNOMEDCT ID:396275006 | UMLS ID:C0029408 | Osteoarthritis (disorder) | Osteoarthritis | Degenerative joint disease (disorder) | Degenerative arthropathy | SNOMEDCT ID:267888004 +BMGC_DS01801,BMG_DS002258,"UMLS ID:C0029410 | Coxae malum senilis | MONDO:0006629 | SNOMEDCT ID:239872002 | SNOMEDCT ID:156492009 | Osteoarthritis of hip (disorder) | OA - Osteoarthritis of hip | osteoarthritis, hip | Osteoarthritis of hip | Degenerative joint disease of hip | ICD10 ID:M16" +BMGC_DS01802,BMG_DS002259,"primary hypertrophic osteoarthropathy | Osteoarthropathy, Primary Hypertrophic | MeSH ID:D010004 | MONDO:0016620 | UMLS ID:C0029411 | DOID:14283" +BMGC_DS01803,BMG_DS002260,"UMLS ID:C0029412 | MONDO:0006965 | DOID:10393 | secondary hypertrophic osteoarthropathy | Osteoarthropathy, Secondary Hypertrophic | MeSH ID:D010005" +BMGC_DS01804,BMG_DS002263,osteochondritis dissecans | MONDO:0017178 | MeSH ID:D010008 | UMLS ID:C0029421 | Osteochondritis Dissecans | DOID:84 +BMGC_DS01805,BMG_DS002264,UMLS ID:C0029422 | Osteochondrodysplasias | osteochondrodysplasia | MONDO:0005516 | MeSH ID:D010009 | DOID:2256 +BMGC_DS01806,BMG_DS002266,UMLS ID:C0029429 | MONDO:0018381 | SNOMEDCT ID:19579005 | MeSH ID:D055034 | Juvenile osteochondrosis | osteochondrosis | DOID:8125 | Osteochondrosis (disorder) | Osteochondropathy-juven | Osteochondritis juvenilis | SNOMEDCT ID:65477003 | Osteochondrosis | Juvenile osteochondritis (disorder) | Juvenile osteochondritis +BMGC_DS01807,BMG_DS002267,MONDO:0019019 | Osteogenesis Imperfecta | UMLS ID:C0029434 | DOID:12347 | osteogenesis imperfecta | MeSH ID:D010013 +BMGC_DS01808,BMG_DS002268,"DOID:4837 | MeSH ID:D010015 | disappearing bone disease | Osteolysis, Essential | UMLS ID:C0029436 | Gorham's disease | MONDO:0003157" +BMGC_DS01809,BMG_DS002270,"OMIM ID:123880 | UMLS ID:C0029438 | MeSH ID:D010015 | Osteolysis, Essential | MONDO:0007414 | Massive Osteolyses | Gorham-Stout disease" +BMGC_DS01810,BMG_DS002273,SNOMEDCT ID:4598005 | (Vitamin D deficiency) or (osteomalacia) or (rickets) (disorder) | OM - osteomalacia | Rickets | SNOMEDCT ID:154728003 | DOID:10573 | Osteomalacia (disorder) | UMLS ID:C0029442 | Vitamin D deficiency | MONDO:0001068 | Osteomalacia | (Vitamin D deficiency) or (osteomalacia) or (rickets) | OMIM ID:MTHU007357 | osteomalacia | SNOMEDCT ID:190639009 +BMGC_DS01811,BMG_DS002274,ICD10 ID:M86 | Pyogenic inflammation of bone | OM - Osteomyelitis | MONDO:0005246 | OMIM ID:MTHU037798 | osteomyelitis | SNOMEDCT ID:60168000 | MeSH ID:D010019 | SNOMEDCT ID:240141009 | Osteomyelitis | OSTM - Osteomyelitis | UMLS ID:C0029443 | Osteomyelitis (disorder) +BMGC_DS01812,BMG_DS002275,UMLS ID:C0029445 | MONDO:0005380 | osteonecrosis | DOID:10159 +BMGC_DS01813,BMG_DS002276,"UMLS ID:C0029453 | SNOMEDCT ID:312894000 | SNOMEDCT ID:78441005 | OMIM ID:MTHU000031 | SNOMEDCT ID:203889002 | MeSH ID:D001851 | Bone Diseases, Metabolic | Osteopenia (morphologic abnormality) | Bone loss | Osteopenia | Osteopenia (disorder) | SNOMEDCT ID:156879002" +BMGC_DS01814,BMG_DS002277,ICD10 ID:Q78.2 | SNOMEDCT ID:1926006 | ICD11 ID:LD24.10 | DOID:0110946;DOID:13533 | osteopetrosis | Osteopetrosis (disorder) | OMIM ID:MTHU056843 | UMLS ID:C0029454 | MONDO:0017198 | Osteopetrosis | MeSH ID:D010022 | SNOMEDCT ID:205500005 | autosomal recessive osteopetrosis 7 +BMGC_DS01815,BMG_DS002278,Buschke-Ollendorff syndrome | SNOMEDCT ID:9147009 | UMLS ID:C0029455 | Osteopoikilosis (disorder) | Osteopoikilosis | DOID:11991 | MONDO:0001414 | osteopoikilosis +BMGC_DS01816,BMG_DS002279,UMLS ID:C0029456 | Osteoporosis (disorder) | MONDO:0005298 | MeSH ID:D010024 | DOID:11476 | OMIM ID:MTHU002380 | SNOMEDCT ID:156825006 | SNOMEDCT ID:64859006 | osteoporosis | OMIM ID:166710 | Osteoporosis +BMGC_DS01817,BMG_DS002280,"MeSH ID:D015663 | MONDO:0008159 | postmenopausal osteoporosis | UMLS ID:C0029458 | Osteoporosis, Postmenopausal" +BMGC_DS01818,BMG_DS002281,"Osteoporosis, Senile | UMLS ID:C0029459 | MeSH ID:D010024 | Osteoporosis" +BMGC_DS01819,BMG_DS002283,DOID:3347 | UMLS ID:C0029463 | MONDO:0009807 | osteosarcoma +BMGC_DS01820,BMG_DS002284,UMLS ID:C0029464 | Osteosclerosis | SNOMEDCT ID:49347007 | OMIM ID:MTHU005522 | MONDO:0002933 | osteosclerosis | MeSH ID:D010026 | Osteosclerosis (disorder) | DOID:4254 +BMGC_DS01821,BMG_DS002285,MONDO:0005891 | ostertagiasis | MeSH ID:D010029 | DOID:3985 | UMLS ID:C0029471 | Ostertagiasis +BMGC_DS01822,BMG_DS002287,Other acne | DOID:9098 | UMLS ID:C0029485 | ICD10 ID:L70.8 | sebaceous gland disease | SNOMEDCT ID:201213005 | Other acne (disorder) +BMGC_DS01823,BMG_DS002288,DOID:6088 | acute stress disorder | UMLS ID:C0029488 +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,DOID:5119 | UMLS ID:C0029513 | ovarian cyst +BMGC_DS01827,BMG_DS002293,DOID:2468 | UMLS ID:C0029516 | psychotic disorder +BMGC_DS01828,BMG_DS002298,Other cataract (disorder) | DOID:83 | Other cataract | UMLS ID:C0029531 | SNOMEDCT ID:193620000 | ICD10 ID:H26 | cataract +BMGC_DS01829,BMG_DS002301,"Other chorea | syndromic X-linked intellectual disability type 10 | choreatic disease | ICD10 ID:G25.5 | DOID:12859;DOID:0060810 | ICD11 ID:8A0Z | UMLS ID:C0029542 | Movement disorders, unspecified" +BMGC_DS01830,BMG_DS002309,SNOMEDCT ID:201095006 | UMLS ID:C0029574 | DOID:37 | Other dermatoses | Other dermatoses (disorder) | skin disease +BMGC_DS01831,BMG_DS002310,lower respiratory tract disease | upper respiratory tract disease | DOID:0050161;DOID:974 | UMLS ID:C0029581 +BMGC_DS01832,BMG_DS002311,respiratory system disease | Other respiratory system diseases (disorder) | DOID:1579 | Other respiratory system diseases | UMLS ID:C0029582 | SNOMEDCT ID:155603009 | SNOMEDCT ID:196057004 +BMGC_DS01833,BMG_DS002312,ICD10 ID:H27 | Other disorders of lens | UMLS ID:C0029590 +BMGC_DS01834,BMG_DS002313,lipid storage disease | UMLS ID:C0029591 | SNOMEDCT ID:154744007 | DOID:9455 | Other disorders of lipoid metabolism (disorder) | Other disorders of lipoid metabolism | SNOMEDCT ID:190798009 +BMGC_DS01835,BMG_DS002315,DOID:2345 | plasma protein metabolism disease | UMLS ID:C0029594 +BMGC_DS01836,BMG_DS002316,"ICD10 ID:E79.8 | Disorders of purine and pyrimidine metabolism: [Lesch-Nyhan syndrome] or [other] (disorder) | ICD11 ID:5C55.Z | Inborn errors of purine, pyrimidine or nucleotide metabolism, unspecified | Lesch-Nyhan syndrome | purine-pyrimidine metabolic disorder | Other disorders of purine and pyrimidine metabolism | Disorders of purine and pyrimidine metabolism: [Lesch-Nyhan syndrome] or [other] | SNOMEDCT ID:267450006 | Other disorders of purine and pyrimidine metabolism (disorder) | UMLS ID:C0029595 | Lesch - Nyhan syndrome | SNOMEDCT ID:190917005 | DOID:653" +BMGC_DS01837,BMG_DS002317,"DOID:9675 | ICD10 ID:J43.8 | Other emphysema (morphologic abnormality) | UMLS ID:C0029607 | ICD11 ID:CA21.Z | pulmonary emphysema | Emphysema, unspecified | SNOMEDCT ID:195962007 | Other emphysema" +BMGC_DS01838,BMG_DS002321,DOID:10273 | heart conduction disease | UMLS ID:C0029630 +BMGC_DS01839,BMG_DS002325,"Diseases of the digestive system, unspecified | ICD10 ID:K56.4 | Other impaction of intestine | ICD11 ID:DE2Z | intestinal impaction | UMLS ID:C0029640 | ICD10 ID:K56.49 | DOID:8448" +BMGC_DS01840,BMG_DS002326,SNOMEDCT ID:202651004 | UMLS ID:C0029644 | ICD10 ID:M46 | DOID:6590 | Other inflammatory spondylopathies | Other inflammatory spondylopathies (disorder) | spondylitis +BMGC_DS01841,BMG_DS002328,Other localized visual field defect | ICD10 ID:H53.45 | scotoma | DOID:9335 | UMLS ID:C0029657 +BMGC_DS01842,BMG_DS002332,DOID:11184 | UMLS ID:C0029668 | ICD10 ID:H10.02 | Other mucopurulent conjunctivitis | acute conjunctivitis +BMGC_DS01843,BMG_DS002337,otosclerosis | UMLS ID:C0029696 | DOID:12185 +BMGC_DS01844,BMG_DS002338,DOID:1414 | SNOMEDCT ID:267399006 | Other ovarian failure (disorder) | Other ovarian failure | UMLS ID:C0029697 | (Other ovarian failure) or (ovarian hypogonadism) (disorder) | (Other ovarian failure) or (ovarian hypogonadism) | Ovarian hypogonadism | ovarian dysfunction | SNOMEDCT ID:190543001 +BMGC_DS01845,BMG_DS002339,ICD11 ID:AB34.1 | ICD10 ID:H81.39 | UMLS ID:C0029706 | DOID:9847 | peripheral vertigo | Other peripheral vertigo | ICD10 ID:H81.3 +BMGC_DS01846,BMG_DS002340,personality disorder | DOID:1510 | UMLS ID:C0029707 +BMGC_DS01847,BMG_DS002344,cardiovascular syphilis | Other specified cardiovascular syphilis | Other specified cardiovascular syphilis (disorder) | DOID:9880 | UMLS ID:C0029751 | SNOMEDCT ID:111823001 +BMGC_DS01848,BMG_DS002345,DOID:1829 | urethral stricture | UMLS ID:C0029752 +BMGC_DS01849,BMG_DS002350,DOID:214 | ICD11 ID:DA08.1 | ICD10 ID:K03.89 | UMLS ID:C0029770 | Certain specified diseases of hard tissues of teeth | teeth hard tissue disease | ICD10 ID:K03.8 | Other specified diseases of hard tissues of teeth +BMGC_DS01850,BMG_DS002351,"Diseases of pancreas, unspecified | ICD10 ID:K86.89 | Other specified diseases of pancreas | ICD10 ID:K86.8 | DOID:26 | pancreas disease | ICD11 ID:DC3Z | UMLS ID:C0029771" +BMGC_DS01851,BMG_DS002353,DOID:10854 | UMLS ID:C0029773 | salivary gland disease +BMGC_DS01852,BMG_DS002358,"penile disease | ICD10 ID:N48.8 | Disorders of penis, unspecified | Other specified disorders of penis | ICD11 ID:GB06.Z | UMLS ID:C0029785 | ICD10 ID:N48.89 | DOID:1529" +BMGC_DS01853,BMG_DS002361,DOID:9974 | drug dependence | UMLS ID:C0029792 +BMGC_DS01854,BMG_DS002365,pleurisy | DOID:10247 | UMLS ID:C0029799 +BMGC_DS01855,BMG_DS002366,SNOMEDCT ID:196737009 | UMLS ID:C0029800 | gastroduodenitis | DOID:8644 | Other specified gastritis (disorder) | Other specified gastritis +BMGC_DS01856,BMG_DS002367,DOID:1284 | prolapse of female genital organ | UMLS ID:C0029801 +BMGC_DS01857,BMG_DS002370,"SNOMEDCT ID:154828005 | Other specified haemorrhagic conditions | DOID:0111045;DOID:0111056;DOID:0060692;DOID:0111057 | ICD10 ID:D69.8 | UMLS ID:C0029804 | platelet-type bleeding disorder 3 | Other specified hemorrhagic conditions | Coagulation defects, unspecified | platelet-type bleeding disorder 8 | SNOMEDCT ID:191328005 | Other specified haemorrhagic conditions (disorder) | ICD11 ID:3B4Z | platelet-type bleeding disorder 11 | platelet-type bleeding disorder 9 | Other specified hemorrhagic conditions (disorder)" +BMGC_DS01858,BMG_DS002371,acrodermatitis chronica atrophicans | UMLS ID:C0029805 | DOID:0060344 +BMGC_DS01859,BMG_DS002373,UMLS ID:C0029810 | DOID:11758 | iron deficiency anemia +BMGC_DS01860,BMG_DS002379,DOID:8283 | Other specified peritonitis (disorder) | Other specified peritonitis | SNOMEDCT ID:197183001 | peritonitis | UMLS ID:C0029823 +BMGC_DS01861,BMG_DS002381,schistosomiasis | Other specified schistosomiasis | UMLS ID:C0029827 | Other specified schistosomiasis (disorder) | SNOMEDCT ID:187116001 | DOID:1395 +BMGC_DS01862,BMG_DS002383,ICD10 ID:H50.89 | Other specified strabismus or ocular motility disorders | ICD10 ID:H50.8 | Other specified strabismus (disorder) | SNOMEDCT ID:194125000 | UMLS ID:C0029831 | DOID:540 | Other specified strabismus | strabismus | ICD11 ID:9C8Y +BMGC_DS01863,BMG_DS002384,trigeminal nerve disease | UMLS ID:C0029834 | DOID:561 +BMGC_DS01864,BMG_DS002385,Other specified tularemia (disorder) | UMLS ID:C0029835 | tularemia | Other specified tularaemia | SNOMEDCT ID:111834003 | gastrointestinal tularemia | SNOMEDCT ID:186298002 | Other specified tularemia | DOID:14239;DOID:2123 +BMGC_DS01865,BMG_DS002386,(Other specified urticaria) or (nettle rash) | SNOMEDCT ID:267817001 | SNOMEDCT ID:201267004 | Nettle rash | urticaria | UMLS ID:C0029839 | Other specified urticaria (disorder) | (Other specified urticaria) or (nettle rash) (disorder) | Other specified urticaria | DOID:1555 +BMGC_DS01866,BMG_DS002388,viral exanthem | Other specified viral exanthemata (disorder) | DOID:8672 | UMLS ID:C0029841 | SNOMEDCT ID:186577001 | Other specified viral exanthemata +BMGC_DS01867,BMG_DS002391,SNOMEDCT ID:196103008 | ICD11 ID:CB21.1 | Other spontaneous pneumothorax | Other spontaneous pneumothorax (disorder) | UMLS ID:C0029850 | pneumothorax | DOID:1673 | ICD10 ID:J93.1 +BMGC_DS01868,BMG_DS002394,UMLS ID:C0029866 | DOID:5199 | ureteral obstruction +BMGC_DS01869,BMG_DS002397,"SNOMEDCT ID:194154006 | Vitreous opacities, membranes or strands | vitreous disease | ICD11 ID:9B84 | ICD10 ID:H43.3 | Other vitreous opacities (disorder) | UMLS ID:C0029872 | DOID:9720 | Other vitreous opacities | ICD10 ID:H43.39" +BMGC_DS01870,BMG_DS002398,UMLS ID:C0029877 | Ear Inflammation | Otitis | MeSH ID:D010031 +BMGC_DS01871,BMG_DS002399,UMLS ID:C0029878 | otitis externa | MeSH ID:D010032 | Otitis Externa | MONDO:0004795 +BMGC_DS01872,BMG_DS002400,MONDO:0005441 | DOID:10754 | otitis media | UMLS ID:C0029882 | MeSH ID:D010033 | Otitis Media +BMGC_DS01873,BMG_DS002401,MeSH ID:D010034 | Otitis Media with Effusion | UMLS ID:C0029883 +BMGC_DS01874,BMG_DS002402,"Right otitis media - supp | Otitis media - purulent | MONDO:0005975 | Suppurative otitis med. | Purulent otitis media (disorder) | Left otitis media - supp | UMLS ID:C0029888 | DOID:11506 | Otitis media, suppurative | Suppurative otitis media | Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media | SNOMEDCT ID:39288006 | suppurative otitis media | Purulent otitis media | Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media (disorder) | SNOMEDCT ID:267758003" +BMGC_DS01875,BMG_DS002403,SNOMEDCT ID:53316003 | MONDO:0000262 | SNOMEDCT ID:275479004 | otomycosis | Otomycosis | Otitis mycotic externa | MeSH ID:D059249 | DOID:0050147 | Otomycosis (disorder) | UMLS ID:C0029895 +BMGC_DS01876,BMG_DS002406,UMLS ID:C0029927 | MeSH ID:D010048 | MONDO:0003282 | Ovarian Cysts | ovarian cyst +BMGC_DS01877,BMG_DS002407,ovarian disease | DOID:1100 | MeSH ID:D010049 | UMLS ID:C0029928 | Ovarian Diseases +BMGC_DS01878,BMG_DS002409,SNOMEDCT ID:266222003 | UMLS ID:C0030100 | SNOMEDCT ID:154415009 | SNOMEDCT ID:266162007 | Schistosomiasis | SNOMEDCT ID:187178006 | Enterobiasis - threadworm | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) (disorder) | Filaria | Infection by Enterobius vermicularis | Pinworm infection | Tapeworms | Oxyuriasis | (Threadworm enterobiasis) or (oxyuriasis) or (pinworm) (disorder) | Infection by Enterobius vermicularis (disorder) | Enterobiasis | Enterobiosis | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) | MeSH ID:D010123 | Trichinosis | Threadworm infection | Other helminthiases | (Threadworm enterobiasis) or (oxyuriasis) or (pinworm) | Taenia infestation | enterobiasis | Flukes | Pinworm | Enterobiasis (disorder) | SNOMEDCT ID:19722001 | Pinworm disease | Toxocara | DOID:7457 +BMGC_DS01879,BMG_DS002411,Pachymeningitis | SNOMEDCT ID:25822001 | MeSH ID:D008581 | Meningitis | Pachymeningitis (disorder) | UMLS ID:C0030167 +BMGC_DS01880,BMG_DS002413,extramammary Paget disease | OMIM ID:167300 | UMLS ID:C0030186 | MONDO:0008177 +BMGC_DS01881,BMG_DS002415,MONDO:0015597 | pustulosis of palm and sole | DOID:4398 | MeSH ID:D011565 | Pustulosis of Palms and Soles | pustulosis palmaris et plantaris | UMLS ID:C0030246 | Psoriasis +BMGC_DS01882,BMG_DS002417,UMLS ID:C0030271 | Pancoast syndrome | MONDO:0024674 | Pancoast tumor | DOID:8007 +BMGC_DS01883,BMG_DS002418,MeSH ID:D010181 | UMLS ID:C0030283 | Pancreatic Cyst +BMGC_DS01884,BMG_DS002419,Pancreatic Diseases | UMLS ID:C0030286 | pancreas disorder | MONDO:0002356 | MeSH ID:D010182 +BMGC_DS01885,BMG_DS002420,Pancreatic Fistula | MeSH ID:D010185 | UMLS ID:C0030290 +BMGC_DS01886,BMG_DS002421,DOID:1793 | pancreatic cancer | UMLS ID:C0030297 | MONDO:0021040 | pancreatic neoplasm +BMGC_DS01887,BMG_DS002422,UMLS ID:C0030299 | Pancreatic Pseudocyst | MeSH ID:D010192 +BMGC_DS01888,BMG_DS002423,Pancreatitis (& [acute NOS]) | Pancreatitis | SNOMEDCT ID:75694006 | pancreatitis | OMIM ID:MTHU003881 | Pancreatitis (& [acute NOS]) (disorder) | DOID:4989 | SNOMEDCT ID:393591004 | Acute pancreatitis NOS | SNOMEDCT ID:197461009 | MONDO:0004982 | MeSH ID:D010195 | Inflammation of pancreas | Pancreatitis (disorder) | UMLS ID:C0030305 +BMGC_DS01889,BMG_DS002424,SNOMEDCT ID:127034005 | MeSH ID:D010198 | ICD10 ID:D61.81 | MONDO:0001529 | pancytopenia | OMIM ID:MTHU036683 | UMLS ID:C0030312 | DOID:12450 | Pancytopenia | Pancytopenia (disorder) +BMGC_DS01890,BMG_DS002425,DOID:594 | panic disorder | MONDO:0005383 | UMLS ID:C0030319 +BMGC_DS01891,BMG_DS002426,UMLS ID:C0030326 | Panniculitis (disorder) | SNOMEDCT ID:268122002 | Nonarticular rheumatism NOS | (Nonarticular rheumatism NOS) or (panniculitis) (disorder) | MONDO:0006591 | panniculitis | SNOMEDCT ID:22125009 | Panniculitis | (Nonarticular rheumatism NOS) or (panniculitis) | DOID:1526 | MeSH ID:D015434 | OMIM ID:MTHU032395 | SNOMEDCT ID:156779007 +BMGC_DS01892,BMG_DS002428,"MONDO:0018063 | DOID:1525 | Panniculitis, Nodular Nonsuppurative | nodular nonsuppurative panniculitis | nodular non-suppurative panniculitis | UMLS ID:C0030328 | MeSH ID:D010201" +BMGC_DS01893,BMG_DS002430,"MeSH ID:D015434 | Panniculitis | UMLS ID:C0030331 | Panniculitis, Subacute Nodular Migratory" +BMGC_DS01894,BMG_DS002431,MONDO:0006884 | panophthalmitis | DOID:13732 | Panophthalmitis | UMLS ID:C0030332 | SNOMEDCT ID:33382000 | MeSH ID:D010202 | Panophthalmitis (disorder) +BMGC_DS01895,BMG_DS002432,ICD10 ID:H44.11 | SNOMEDCT ID:75614007 | UMLS ID:C0030343 | DOID:12030 | Panuveitis | panuveitis | OMIM ID:MTHU068572 | MONDO:0017255 | Panuveitis (disorder) | MeSH ID:D015864 | Diffuse uveitis +BMGC_DS01896,BMG_DS002433,SNOMEDCT ID:155187009 | MONDO:0006879 | optic papillitis | Papilloedema (disorder) | Papilloedema due to raised intracranial pressure | Papilledema - optic disc edema due to raised intracranial pressure (disorder) | Papilledema (disorder) | Optic disc edema | Choked disc | UMLS ID:C0030353 | OMIM ID:MTHU007182 | ICD10 ID:H47.1 | Blurring of optic disk | Papilledema | SNOMEDCT ID:423341008 | Edema of optic disc | Edema of optic disc (disorder) | Papilloedema - optic disc oedema due to raised intracranial pressure | Optic disc oedema | Papilledema due to raised intracranial pressure | Choked disk | SNOMEDCT ID:111526001 | ICD11 ID:9C40.A0 | DOID:146;DOID:10175 | Papilledema - optic disc edema due to raised intracranial pressure | Papilloedema | papilledema | SNOMEDCT ID:423488006 | MeSH ID:D010211 +BMGC_DS01897,BMG_DS002434,UMLS ID:C0030354 | MONDO:0002363 | DOID:2615 | papilloma +BMGC_DS01898,BMG_DS002435,MONDO:0009490 | DOID:3389 | Papillon-Lefevre disease | MeSH ID:D010214 | UMLS ID:C0030360 | Papillon-Lefevre Disease | OMIM ID:245000 +BMGC_DS01899,BMG_DS002437,MeSH ID:D010217 | Phlebotomus fever | DOID:11360 | phlebotomus fever | MONDO:0005913 | UMLS ID:C0030372 | Phlebotomus Fever +BMGC_DS01900,BMG_DS002439,Infection by Paracoccidioides brasiliensis | South American blastomycosis | UMLS ID:C0030409 | Brazilian blastomycosis | MONDO:0005894 | paracoccidioidomycosis | Lutz-Splendore-Almeida disease | Infection by Blastomyces brasiliensis | Paracoccidioidomycosis | ICD10 ID:B41 | DOID:12662 | Paracoccidioidomycosis (disorder) | MeSH ID:D010229 | SNOMEDCT ID:59925007 +BMGC_DS01901,BMG_DS002440,paraganglioma | MONDO:0000448 | UMLS ID:C0030421 | DOID:0050773 +BMGC_DS01902,BMG_DS002441,Pulmonary distomatosis | DOID:10699 | Lung fluke disease | UMLS ID:C0030424 | Lung fluke infection | Endemic oriental haemoptysis | MeSH ID:D010237 | Pulmonary paragonimiasis | Endemic oriental hemoptysis | paragonimiasis | Oriental lung fluke disease | SNOMEDCT ID:30369007 | Infection caused by Paragonimus (disorder) | ICD10 ID:B66.4 | Infection caused by Paragonimus | Pulmonary distomiasis | Infection by Paragonimus | Paragonimiasis | Paragonimosis | MONDO:0005895 | ICD11 ID:1F85 +BMGC_DS01903,BMG_DS002442,SNOMEDCT ID:200766001 | Parakeratosis | OMIM ID:MTHU002999 | Parakeratosis (disorder) | MeSH ID:D010241 | UMLS ID:C0030436 | Parakeratosis (morphologic abnormality) | SNOMEDCT ID:65068000 +BMGC_DS01904,BMG_DS002443,Parakeratosis Variegata | MeSH ID:D010267 | Parapsoriasis | UMLS ID:C0030437 +BMGC_DS01905,BMG_DS002444,ICD10 ID:G12.22 | Progressive bulbar palsy (disorder) | DOID:681 | MONDO:0008890 | SNOMEDCT ID:54304004 | Bulbar palsy | progressive bulbar palsy | UMLS ID:C0030442 | PBP - Progressive bulbar palsy | Progressive bulbar palsy | Bulbar paralysis +BMGC_DS01906,BMG_DS002445,"Paralyses, Familial Periodic | MeSH ID:D010245 | DOID:1029 | Familial Periodic Paralysis | UMLS ID:C0030443 | MONDO:0000995 | familial periodic paralysis" +BMGC_DS01907,BMG_DS002446,DOID:8442 | MONDO:0004568 | paralytic ileus | MeSH ID:D007418 | UMLS ID:C0030446 | Intestinal Pseudo-Obstruction | Paralytic Ileus +BMGC_DS01908,BMG_DS002447,SNOMEDCT ID:280483007 | Inflammatory disease of female pelvic organs AND/OR tissues | MONDO:0006887 | MeSH ID:D010249 | UMLS ID:C0030455 | Parametritis (disorder) | DOID:1260 | Parametritis | Inflammatory disease of female pelvic organs AND/OR tissues (disorder) | parametritis | SNOMEDCT ID:37518008 +BMGC_DS01909,BMG_DS002449,paranasal sinus disease | MONDO:0001735 | paranasal sinus disorder | DOID:1352 | UMLS ID:C0030469 +BMGC_DS01910,BMG_DS002450,paranasal sinus benign neoplasm | MONDO:0005289 | paranasal sinus neoplasm | UMLS ID:C0030470 | DOID:1350 +BMGC_DS01911,BMG_DS002451,MONDO:0021073 | paraneoplastic syndrome | UMLS ID:C0030472 +BMGC_DS01912,BMG_DS002452,paranoid personality disorder | DOID:10938 | UMLS ID:C0030477 | MONDO:0001163 +BMGC_DS01913,BMG_DS002453,"MeSH ID:D015493 | OMIM ID:159580 | DOID:321 | Tropical Spastic Paraparesis | MONDO:0008039 | UMLS ID:C0030481 | Paraparesis, Tropical Spastic | tropical spastic paraparesis" +BMGC_DS01914,BMG_DS002455,DOID:5334 | UMLS ID:C0030483 | Paraphimosis | SNOMEDCT ID:155922002 | MONDO:0006889 | SNOMEDCT ID:13758004 | Paraphimosis (disorder) | paraphimosis | ICD10 ID:N47.2 | MeSH ID:D010263 +BMGC_DS01915,BMG_DS002456,Lower paraplegia | Paraplegia (disorder) | MeSH ID:D010264 | ICD10 ID:G82.2 | SNOMEDCT ID:60389000 | Paralysis of both lower limbs | DOID:607 | paraplegia | OMIM ID:MTHU036387 | MONDO:0003757 | Paraplegia | UMLS ID:C0030486 | ICD11 ID:MB56 | Paraplegia (complete or partial paralysis of legs) | SNOMEDCT ID:155031004 +BMGC_DS01916,BMG_DS002458,MONDO:0006592 | MeSH ID:D010267 | Parapsoriasis | UMLS ID:C0030491 | SNOMEDCT ID:88233000 | (Psoriasis NOS) or (guttate psoriasis) or (parapsoriasis) | ICD10 ID:L41 | SNOMEDCT ID:156371008 | DOID:9088 | SNOMEDCT ID:200979001 | parapsoriasis | (Psoriasis NOS) or (guttate psoriasis) or (parapsoriasis) (disorder) | SNOMEDCT ID:267851002 | Parapsoriasis (disorder) | Guttate psoriasis | Psoriasis NOS +BMGC_DS01917,BMG_DS002459,MeSH ID:D010272 | Parasitic Diseases | UMLS ID:C0030499 | MONDO:0005135 | parasitic infectious disease +BMGC_DS01918,BMG_DS002460,"UMLS ID:C0030500 | Parasitic Diseases, Animal | MeSH ID:D010273 | MONDO:0024969 | parasitic disease, non-human animal" +BMGC_DS01919,BMG_DS002461,Parasomnias | Parasomnia (sleep disorder) | SNOMEDCT ID:58690002 | OMIM ID:MTHU053515 | UMLS ID:C0030508 | Parasomnia | ICD10 ID:G47.5 | Parasomnia (disorder) | MeSH ID:D020447 +BMGC_DS01920,BMG_DS002462,parathyroid gland disease | DOID:11201 | UMLS ID:C0030517 | Parathyroid Diseases | MeSH ID:D010279 +BMGC_DS01921,BMG_DS002463,DOID:1540 | tumor of parathyroid gland | UMLS ID:C0030521 | parathyroid carcinoma | MONDO:0021360 +BMGC_DS01922,BMG_DS002464,Paratuberculosis | MeSH ID:D010283 | MONDO:0025449 | paratuberculosis | Johne's disease | Johne disease | SNOMEDCT ID:12223006 | UMLS ID:C0030524 | Johne's disease (disorder) +BMGC_DS01923,BMG_DS002465,MONDO:0018626 | paratyphoid fever | DOID:3055 | UMLS ID:C0030528 | MeSH ID:D010284 | Paratyphoid Fever +BMGC_DS01924,BMG_DS002466,SNOMEDCT ID:26544005 | OMIM ID:MTHU074509 | UMLS ID:C0030552 | Decreased muscle strength | Muscle weakness (finding) | Paresis | Muscle strength reduced | MeSH ID:D010291 | Muscle weakness +BMGC_DS01925,BMG_DS002467,OMIM ID:MTHU016084 | Paraesthesia | Paraesthesia (numbness/tingling) | Paresthesia (finding) | UMLS ID:C0030554 | Paresthesia (numbness/tingling) | Paresthesia | MeSH ID:D010292 | SNOMEDCT ID:91019004 +BMGC_DS01926,BMG_DS002468,MONDO:0005180 | UMLS ID:C0030567 | Parkinson's disease | DOID:14330 | Parkinson Disease | Parkinson disease | MeSH ID:D010300 +BMGC_DS01927,BMG_DS002469,"MeSH ID:D010301 | Parkinson Disease, Postencephalitic | DOID:14332 | MONDO:0001945 | postencephalitic Parkinson disease | UMLS ID:C0030568" +BMGC_DS01928,BMG_DS002470,"secondary Parkinson disease | Secondary Parkinson Disease | UMLS ID:C0030569 | MeSH ID:D010302 | DOID:13548 | MONDO:0006966 | Parkinson Disease, Secondary" +BMGC_DS01929,BMG_DS002471,MONDO:0005898 | paronychia | SNOMEDCT ID:71906005 | Paronychia | Paronychia (disorder) | DOID:13117 | UMLS ID:C0030578 | Perionychia +BMGC_DS01930,BMG_DS002472,parotid disease | UMLS ID:C0030579 | parotid disorder | Parotid Diseases | MeSH ID:D010305 | MONDO:0005899 | DOID:10302 +BMGC_DS01931,BMG_DS002474,ICD10 ID:K11.2 | SNOMEDCT ID:196481002 | MONDO:0005900 | UMLS ID:C0030583 | Parotitis (disorder) | parotitis | MeSH ID:D010309 | Parotitis | OMIM ID:MTHU078653 | Sialoadenitis | SNOMEDCT ID:14756005 | Sialoadenitis (& [parotitis]) | DOID:10301 | ICD11 ID:DA04.2 | Sialoadenitis (& [parotitis]) (disorder) +BMGC_DS01932,BMG_DS002475,UMLS ID:C0030584 | DOID:4333 | parovarian cyst | MONDO:0002965 | Parovarian Cyst | MeSH ID:D010310 +BMGC_DS01933,BMG_DS002476,Supravent. tach. parox. | Paroxysmal atrial tachycardia (disorder) | Supraventricular tachycardia | UMLS ID:C0030587 | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) | SNOMEDCT ID:195069001 | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) (disorder) | Atrial paroxysmal tachycardia | Paroxysmal artrial tachycardia | Tachycardia - parox.sup | Paroxysmal atrial tachycardia | PAT - paroxysmal atrial tachycardia | Paroxysmal sup. tachy. | SNOMEDCT ID:266305002 | Parox. supravent. tachycardia | SNOMEDCT ID:155363003 +BMGC_DS01934,BMG_DS002477,UMLS ID:C0030590 | Paroxysmal supraventricular tachycardia (disorder) | SNOMEDCT ID:67198005 | Paroxysmal supraventricular tachycardia | OMIM ID:MTHU060833 +BMGC_DS01935,BMG_DS002479,DOID:12731 | MONDO:0011644 | MeSH ID:D015868 | Pars Planitis | pars planitis | OMIM ID:606177 | UMLS ID:C0030593 +BMGC_DS01936,BMG_DS002481,"Neonatal Abstinence Syndrome | MeSH ID:D009357 | UMLS ID:C0030623 | Passive Addiction, Neonatal" +BMGC_DS01937,BMG_DS002482,Pasteurella Infections | UMLS ID:C0030636 | pasteurellosis | MeSH ID:D010326 | DOID:11055 | MONDO:0005901 +BMGC_DS01938,BMG_DS002483,UMLS ID:C0030662 | OMIM ID:606349 | DOID:12399 | MONDO:0011662 | pathological gambling +BMGC_DS01939,BMG_DS002484,MeSH ID:D010373 | lice infestation | MONDO:0003472 | UMLS ID:C0030756 | DOID:5502 | Lice Infestations +BMGC_DS01940,BMG_DS002485,Pediculosis capitis (disorder) | Pediculus humanus capitis infestation | Pediculus capitis infestation | SNOMEDCT ID:81000006 | Lousy hair | Lice infested hair | Nit infested hair | UMLS ID:C0030757 | Head louse infestation | Pediculosis capitis | Nits | Head lice infestation | Head lice | MONDO:0003471 | DOID:5501 +BMGC_DS01941,BMG_DS002486,Body louse infestation | Pediculus corporis infestation | DOID:5513 | UMLS ID:C0030758 | Pediculus humanus infestation | Pediculosis corporis (disorder) | SNOMEDCT ID:25188002 | MONDO:0003482 | Body lice | Pediculus humanus corporis infestation | Pediculosis corporis +BMGC_DS01942,BMG_DS002487,MONDO:0001794 | Infestation caused by Phthirus pubis | DOID:13760 | Crabs | SNOMEDCT ID:71011005 | Crabs infestation | Pubic lice | Pubic louse infestation | Infestation by crab lice | UMLS ID:C0030759 | Phthiriasis pubis | Pthiriasis | ICD10 ID:B85.3 | ICD11 ID:1G03 | Pthirus pubis infestation | Infestation caused by Phthirus pubis (disorder) | Pediculosis pubis | Infestation by Phthirus pubis | Infestation caused by crab lice +BMGC_DS01943,BMG_DS002489,MONDO:0008214 | MeSH ID:D010381 | UMLS ID:C0030779 | Pelger-Huet anomaly | Pelger-Huet Anomaly | DOID:9631 | OMIM ID:169400 +BMGC_DS01944,BMG_DS002490,UMLS ID:C0030781 | MeSH ID:D010382 | MONDO:0004717 | DOID:914 | Peliosis Hepatis | peliosis hepatis +BMGC_DS01945,BMG_DS002491,Beriberi | Pellagra | Beri-beri | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] | pellagra | MONDO:0019975 | DOID:8457 | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] (disorder) | SNOMEDCT ID:267491008 | Pellagra (disorder) | Thiamine/niacin deficiency | Thiamine deficiency | SNOMEDCT ID:154725000 | UMLS ID:C0030783 | SNOMEDCT ID:418186002 | MeSH ID:D010383 +BMGC_DS01946,BMG_DS002492,Pelvic abscess (disorder) | UMLS ID:C0030785 | Pelvic abscess | SNOMEDCT ID:111367007 +BMGC_DS01947,BMG_DS002493,Pelvic Infection | UMLS ID:C0030790 | MeSH ID:D034161 +BMGC_DS01948,BMG_DS002494,"mucous membrane pemphigoid | UMLS ID:C0030804 | MONDO:0018746 | MeSH ID:D010390 | cicatricial pemphigoid | Pemphigoid, Benign Mucous Membrane | DOID:11656" +BMGC_DS01949,BMG_DS002495,MONDO:0019082 | SNOMEDCT ID:77090002 | UMLS ID:C0030805 | bullous pemphigoid | BP - Bullous pemphigoid | Bullous pemphigoid (disorder) | Bullous pemphigoid | ICD11 ID:EB41.0 | DOID:8506 | ICD10 ID:L12.0 | OMIM ID:MTHU055608 +BMGC_DS01950,BMG_DS002496,DOID:9182 | UMLS ID:C0030807 | ICD10 ID:L10 | MeSH ID:D010392 | pemphigus | Pemphigus (disorder) | SNOMEDCT ID:65172003 | SNOMEDCT ID:156355008 | MONDO:0006594 | Pemphigus +BMGC_DS01951,BMG_DS002497,OMIM ID:169610 | Pemphigus Vulgaris | UMLS ID:C0030809 | MeSH ID:D010392 | DOID:0060851 | MONDO:0008219 | pemphigus vulgaris | Pemphigus +BMGC_DS01952,BMG_DS002499,MONDO:0002036 | penile disorder | MeSH ID:D010409 | UMLS ID:C0030846 | Penile Diseases +BMGC_DS01953,BMG_DS002500,Peyronie Disease | Peyronie disease | MeSH ID:D010411 | Penile Induration | UMLS ID:C0030848 | Peyronie's disease | MONDO:0008231 | OMIM ID:171000 | DOID:8616 +BMGC_DS01954,BMG_DS002501,penile neoplasm | UMLS ID:C0030849 | MONDO:0006895 | penile benign neoplasm | DOID:11624 +BMGC_DS01955,BMG_DS002502,MONDO:0004247 | Peptic Ulcer | MeSH ID:D010437 | peptic ulcer disease | UMLS ID:C0030920 | DOID:750 +BMGC_DS01956,BMG_DS002503,MONDO:0004260 | DOID:752 | Peptic Ulcer Perforation | MeSH ID:D010439 | UMLS ID:C0030925 | peptic ulcer perforation +BMGC_DS01957,BMG_DS002506,Periapical Abscess | UMLS ID:C0031024 | MeSH ID:D010482 | DOID:2562 | Suppurative Periapical Periodontitis | MONDO:0006989 | suppurative periapical periodontitis +BMGC_DS01958,BMG_DS002508,MONDO:0006897 | Periapical Granuloma | MeSH ID:D010484 | UMLS ID:C0031029 | periapical granuloma | DOID:4617 +BMGC_DS01959,BMG_DS002509,periapical periodontitis | MeSH ID:D010485 | DOID:823 | MONDO:0004508 | UMLS ID:C0031030 | Periapical Periodontitis +BMGC_DS01960,BMG_DS002512,MeSH ID:D010488 | Polyarteritis Nodosa | polyarteritis nodosa | DOID:9810 | MONDO:0019170 | UMLS ID:C0031036 +BMGC_DS01961,BMG_DS002513,Periarthritis | MONDO:0006898 | SNOMEDCT ID:50921008 | UMLS ID:C0031037 | Periarthritis (disorder) | DOID:2964 | MeSH ID:D010489 | periarthritis +BMGC_DS01962,BMG_DS002514,pericardial effusion | DOID:118 | MONDO:0001370 | SNOMEDCT ID:373945007 | OMIM ID:MTHU005040 | UMLS ID:C0031039 | Hydropericardium | Pericardial effusion (disorder) | SNOMEDCT ID:70370001 | Pericardial effusion +BMGC_DS01963,BMG_DS002515,UMLS ID:C0031046 | SNOMEDCT ID:3238004 | MONDO:0005904 | Pericarditis | MeSH ID:D010493 | pericarditis | DOID:1787 | Pericarditis (disorder) | OMIM ID:MTHU011706 +BMGC_DS01964,BMG_DS002516,"UMLS ID:C0031048 | MONDO:0006711 | constrictive pericarditis | DOID:11481 | Pericarditis, Constrictive | MeSH ID:D010494" +BMGC_DS01965,BMG_DS002518,MeSH ID:D010518 | Periodontitis | Pericementitis | UMLS ID:C0031051 +BMGC_DS01966,BMG_DS002519,pericholangitis | MONDO:0001931 | Pericholangitis (disorder) | DOID:14272 | UMLS ID:C0031052 | SNOMEDCT ID:111373008 | Pericholangitis +BMGC_DS01967,BMG_DS002521,DOID:3671 | UMLS ID:C0031055 | MONDO:0006899 | Pericoronitis | Pericoronitis (disorder) | pericoronitis | MeSH ID:D010497 | SNOMEDCT ID:22240003 +BMGC_DS01968,BMG_DS002522,MeSH ID:D010501 | SNOMEDCT ID:111404004 | MONDO:0006900 | Perinephritis | perinephritis | Perinephritis (disorder) | UMLS ID:C0031065 | DOID:2982 +BMGC_DS01969,BMG_DS002523,familial Mediterranean fever | Familial Mediterranean Fever | MONDO:0018088 | MeSH ID:D010505 | UMLS ID:C0031069 | DOID:2987 +BMGC_DS01970,BMG_DS002525,UMLS ID:C0031090 | Periodontal Diseases | DOID:3388 | periodontal disorder | MONDO:0002635 | periodontal disease | MeSH ID:D010510 +BMGC_DS01971,BMG_DS002526,(Gingival and periodontal disease NOS) or (giant cell epulis) or (periodontitis) | Giant cell epulis | Gingival/periodontal dis. NOS | periodontitis | SNOMEDCT ID:155648008 | DOID:824 | Gingival and periodontal disease NOS | Periodontitis | SNOMEDCT ID:266491004 | (Gingival and periodontal disease NOS) or (giant cell epulis) or (periodontitis) (disorder) | Periodontitis (disorder) | UMLS ID:C0031099 | OMIM ID:MTHU009733 | MeSH ID:D010518 | SNOMEDCT ID:41565005 | MONDO:0005076 +BMGC_DS01972,BMG_DS002527,DOID:1474 | UMLS ID:C0031106 | Aggressive Periodontitis | MeSH ID:D010520 | aggressive periodontitis +BMGC_DS01973,BMG_DS002528,Periostitis (disorder) | MONDO:0004934 | MeSH ID:D010522 | UMLS ID:C0031111 | Periostitis | Periosteitis fibrosa | periostitis | SNOMEDCT ID:41910004 | DOID:9957 +BMGC_DS01974,BMG_DS002529,UMLS ID:C0031115 | peripheral vascular disease | DOID:341 +BMGC_DS01975,BMG_DS002530,DOID:574 | UMLS ID:C0031117 | MONDO:0005244 | peripheral neuropathy | peripheral nervous system disease +BMGC_DS01976,BMG_DS002531,DOID:1192 | peripheral nervous system neoplasm | MONDO:0001406 | UMLS ID:C0031118 +BMGC_DS01977,BMG_DS002534,Periphlebitis (disorder) | Periphlebitis | MeSH ID:D010689 | UMLS ID:C0031129 | Phlebitis | SNOMEDCT ID:36675003 +BMGC_DS01978,BMG_DS002537,MONDO:0006901 | UMLS ID:C0031149 | peritoneal neoplasm +BMGC_DS01979,BMG_DS002538,MONDO:0004522 | UMLS ID:C0031154 | peritonitis +BMGC_DS01980,BMG_DS002539,MeSH ID:D000039 | MONDO:0005906 | Peritonsillar Abscess | peritonsillar abscess | UMLS ID:C0031157 +BMGC_DS01981,BMG_DS002542,UMLS ID:C0031190 | MeSH ID:D010547 | persistent fetal circulation syndrome | MONDO:0022430 | Persistent Fetal Circulation Syndrome | DOID:13042 +BMGC_DS01982,BMG_DS002545,UMLS ID:C0031269 | MeSH ID:D010580 | MONDO:0008280 | Peutz-Jeghers Syndrome | Peutz-Jeghers syndrome | DOID:3852 | OMIM ID:175200 +BMGC_DS01983,BMG_DS002546,MONDO:0005910 | UMLS ID:C0031306 | MeSH ID:D010585 | Phagocyte Bactericidal Dysfunction | phagocyte bactericidal dysfunction | DOID:3262 +BMGC_DS01984,BMG_DS002547,Pharyngeal Diseases | MONDO:0020592 | pharyngitis | UMLS ID:C0031345 | disorder of pharynx | MeSH ID:D010608 | DOID:2275 +BMGC_DS01985,BMG_DS002548,pharynx neoplasm | UMLS ID:C0031347 | DOID:0060119 | pharynx cancer | MONDO:0021246 +BMGC_DS01986,BMG_DS002549,OMIM ID:MTHU007438 | Throat infection | MONDO:0002258 | Throat infection - pharyngitis | MeSH ID:D010612 | SNOMEDCT ID:37616004 | Irritation of the throat | Throat soreness | pharyngitis | UMLS ID:C0031350 | DOID:2275 | SNOMEDCT ID:405737000 | Pharyngitis | Sore throat | Pharyngitis (disorder) | Pharyngeal pain +BMGC_DS01987,BMG_DS002550,"DOID:13801 | UMLS ID:C0031351 | MONDO:0005911 | Adenovirus Infections, Human | Pharyngo-Conjunctival Fever | pharyngoconjunctival fever | MeSH ID:D000258" +BMGC_DS01988,BMG_DS002551,DOID:5062 | UMLS ID:C0031391 | phencyclidine abuse | MONDO:0005912 +BMGC_DS01989,BMG_DS002552,UMLS ID:C0031485 | MeSH ID:D010661 | phenylketonuria | Phenylketonurias | MONDO:0009861 | OMIM ID:261600 | DOID:9281 +BMGC_DS01990,BMG_DS002553,OMIM ID:171300 | UMLS ID:C0031511 | MONDO:0008233 | pheochromocytoma +BMGC_DS01991,BMG_DS002554,UMLS ID:C0031538 | phimosis | DOID:2712 +BMGC_DS01992,BMG_DS002555,MONDO:0004625 | UMLS ID:C0031542 | DOID:864 | phlebitis +BMGC_DS01993,BMG_DS002556,MeSH ID:D013924 | UMLS ID:C0031556 | Phlegmasia Alba Dolens | Thrombophlebitis +BMGC_DS01994,BMG_DS002557,UMLS ID:C0031572 | social phobia | MONDO:0001247 | DOID:11257 +BMGC_DS01995,BMG_DS002558,UMLS ID:C0031707 | MeSH ID:D010760 | phosphorus metabolism disease | DOID:2485 | Phosphorus Metabolism Disorders | MONDO:0002319 +BMGC_DS01996,BMG_DS002559,SNOMEDCT ID:367484009 | Pruritus aestivalis | Pruritus estivalis | Polymorphic photodermatitis | polymorphic light eruption | ICD10 ID:L56.4 | SNOMEDCT ID:61064008 | Polymorphous light eruption | Photodermatitis due to sun | SNOMEDCT ID:238525001 | Polymorphic light eruption | ICD11 ID:EJ30.0 | MONDO:0041182 | UMLS ID:C0031736 | Polymorphous light eruption (disorder) | Polymorphic light eruption (disorder) | PLE - polymorphic light eruption +BMGC_DS01997,BMG_DS002560,Photosensitivity Disorders | photosensitivity disease | DOID:3159 | MeSH ID:D010787 | MONDO:0006597 | UMLS ID:C0031762 +BMGC_DS01998,BMG_DS002562,UMLS ID:C0031873 | DOID:12128 | MONDO:0001441 | pica disease +BMGC_DS01999,BMG_DS002563,"UMLS ID:C0031876 | Pick Disease of Heart | Pericarditis, Constrictive | MeSH ID:D010494" +BMGC_DS02000,BMG_DS002564,UMLS ID:C0031880 | OMIM ID:257500 | MeSH ID:D010845 | MONDO:0009763 | Obesity Hypoventilation Syndrome | obesity-hypoventilation syndrome +BMGC_DS02001,BMG_DS002566,Other mycoses | Mycoses - other | SNOMEDCT ID:402135006 | SNOMEDCT ID:154408001 | DOID:13902;DOID:0050133;DOID:12711 | SNOMEDCT ID:266218008 | Aspergillosis | MeSH ID:D010854 | Coccidioidomycosis | piedra | black piedra | white piedra | Piedra (disorder) | Histoplasmosis | superficial mycosis | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Piedra | Sporotrichosis | MONDO:0000253 | UMLS ID:C0031898 | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) +BMGC_DS02002,BMG_DS002567,DOID:4258 | MONDO:0009869 | isolated Pierre-Robin syndrome | UMLS ID:C0031900 | OMIM ID:261800 | Weissenbacher-Zweymuller syndrome +BMGC_DS02003,BMG_DS002569,OMIM ID:173000 | pilonidal sinus | MONDO:0008249 | UMLS ID:C0031925 +BMGC_DS02004,BMG_DS002570,UMLS ID:C0031941 | DOID:5032 | pineal gland cancer +BMGC_DS02005,BMG_DS002571,MONDO:0000979 | Infection by Treponema carateum | UMLS ID:C0031946 | Azul | Pinta | Mal del pinto | pinta disease | MeSH ID:D010874 | Pinta (disorder) | SNOMEDCT ID:22064009 | Carate | DOID:1022 +BMGC_DS02006,BMG_DS002572,pituitary adenoma | DOID:3829 | UMLS ID:C0032000 | MONDO:0006373 | pituitary gland adenoma +BMGC_DS02007,BMG_DS002573,DOID:1129 | UMLS ID:C0032001 | Pituitary Apoplexy | pituitary apoplexy | MONDO:0006908 | MeSH ID:D010899 +BMGC_DS02008,BMG_DS002574,pituitary gland disorder | Pituitary Diseases | UMLS ID:C0032002 | MeSH ID:D010900 | MONDO:0003381 +BMGC_DS02009,BMG_DS002575,MONDO:0017611 | pituitary tumor | pituitary cancer | UMLS ID:C0032019 | DOID:1785 +BMGC_DS02010,BMG_DS002576,MONDO:0024248 | SNOMEDCT ID:156372001 | Pityriasis (disorder) | Pityriasis | SNOMEDCT ID:274133009 | SNOMEDCT ID:34630004 | MeSH ID:D010915 | obsolete pityriasis | UMLS ID:C0032024 +BMGC_DS02011,BMG_DS002577,MeSH ID:D017515 | MONDO:0006601 | UMLS ID:C0032026 | DOID:8892 | Pityriasis Rosea | pityriasis rosea +BMGC_DS02012,BMG_DS002578,MONDO:0100017 | DOID:9212 | MeSH ID:D010916 | pityriasis rubra pilaris | UMLS ID:C0032027 | Pityriasis Rubra Pilaris +BMGC_DS02013,BMG_DS002579,UMLS ID:C0032044 | placenta accreta | MONDO:0005916 | DOID:4744 +BMGC_DS02014,BMG_DS002580,placenta disorder | MONDO:0005917 | placenta disease | DOID:780 | UMLS ID:C0032045 +BMGC_DS02015,BMG_DS002581,MONDO:0005918 | DOID:11060 | UMLS ID:C0032046 | placenta praevia +BMGC_DS02016,BMG_DS002582,placental insufficiency | MeSH ID:D010927 | DOID:3891 | Placental Insufficiency | MONDO:0005919 | UMLS ID:C0032051 +BMGC_DS02017,BMG_DS002584,Pestilential fever | Plague (disorder) | MeSH ID:D010930 | DOID:3482 | Infection by Yersinia pestis | UMLS ID:C0032064 | Pest | SNOMEDCT ID:58750007 | ICD10 ID:A20 | Black death | plague | MONDO:0019095 | Plague +BMGC_DS02018,BMG_DS002587,MONDO:0005615 | plasmacytoma | DOID:3721 | UMLS ID:C0032131 +BMGC_DS02019,BMG_DS002588,Platelet Storage Pool Deficiency | platelet storage pool deficiency | MeSH ID:D010981 | DOID:2223 | MONDO:0008495 | UMLS ID:C0032197 | OMIM ID:185050 +BMGC_DS02020,BMG_DS002589,MONDO:0002037 | Pleural Diseases | DOID:1532 | UMLS ID:C0032226 | pleural disease | MeSH ID:D010995 | pleural disorder +BMGC_DS02021,BMG_DS002590,MONDO:0021065 | pleural neoplasm | pleural cancer | UMLS ID:C0032229 | DOID:5158 +BMGC_DS02022,BMG_DS002591,ICD11 ID:MD31 | OMIM ID:MTHU075704 | SNOMEDCT ID:196075003 | Pleuritis | MONDO:0000986 | SNOMEDCT ID:266406002 | ICD10 ID:R09.1 | MeSH ID:D010998 | Pleurisy | SNOMEDCT ID:32203001 | Adhesions - pleural | (Pleurisy) or (adhesions - pleural) (disorder) | (Pleurisy) or (adhesions - pleural) | pleurisy | UMLS ID:C0032231 | Pleurisy (disorder) +BMGC_DS02023,BMG_DS002592,"epidemic pleurodynia | UMLS ID:C0032238 | Pleurodynia, Epidemic | MeSH ID:D011000 | MONDO:0005751 | DOID:10882" +BMGC_DS02024,BMG_DS002593,UMLS ID:C0032241 | MeSH ID:D011001 | MONDO:0001940 | pleuropneumonia | SNOMEDCT ID:60485005 | DOID:14319 | Pleuropneumonia | Pleurobronchopneumonia (disorder) | Pleurobronchopneumonia +BMGC_DS02025,BMG_DS002596,pneumatosis cystoides intestinalis | DOID:13249 | UMLS ID:C0032266 | MeSH ID:D011006 | MONDO:0006912 | Pneumatosis Cystoides Intestinalis +BMGC_DS02026,BMG_DS002598,UMLS ID:C0032269 | Pneumococcal Infections | MONDO:0005114 | pneumococcal infection | MeSH ID:D011008 +BMGC_DS02027,BMG_DS002599,SNOMEDCT ID:40122008 | SNOMEDCT ID:155587002 | SNOMEDCT ID:196004000 | MeSH ID:D011009 | DOID:10316 | Pneumoconiosis (disorder) | UMLS ID:C0032273 | Occupational lung disease | Lung disease: [pneumoconioses] or [occupational] or [due to external agents] (disorder) | PK - Pneumoconiosis | pneumoconiosis | Lung disease: [pneumoconioses] or [occupational] or [due to external agents] | Lung disease due to external agents | Pneumoconioses | MONDO:0015926 | Pneumoconiosis +BMGC_DS02028,BMG_DS002601,DOID:552 | SNOMEDCT ID:233604007 | SNOMEDCT ID:266391003 | SNOMEDCT ID:60363000 | Pneumonia and influenza &/or pneumonia (disorder) | Pneumonia (disorder) | Pneumonia and influenza | pneumonia | OMIM ID:MTHU002638 | UMLS ID:C0032285 | Pneumonia and influenza &/or pneumonia | MeSH ID:D011014 | Pneumonia | SNOMEDCT ID:155548002 | MONDO:0005249 +BMGC_DS02029,BMG_DS002603,"MONDO:0000265 | Aspiration Pneumonia | DOID:0050152;DOID:3240 | aspiration pneumonia | Pneumonia, Aspiration | UMLS ID:C0032290 | MeSH ID:D011015 | aspiration pneumonitis" +BMGC_DS02030,BMG_DS002605,"MONDO:0005826 | lipid pneumonia | DOID:3241 | Pneumonia, Lipid | UMLS ID:C0032298 | MeSH ID:D011017" +BMGC_DS02031,BMG_DS002606,Lobar Pneumonia | UMLS ID:C0032300 | MeSH ID:D011014 | Pneumonia +BMGC_DS02032,BMG_DS002607,Eaton's agent pneumonia | Mycoplasma pneumonia | UMLS ID:C0032302 | Primary atypical pneumonia caused by Mycoplasma pneumoniae | MONDO:0005867 | Pneumonia caused by Mycoplasma pneumoniae (disorder) | Mycoplasmal pneumonia | Pneumonia caused by Mycoplasma pneumoniae | Mycoplasma pneumoniae pneumonia | Endemic pneumonia | SNOMEDCT ID:46970008 +BMGC_DS02033,BMG_DS002610,"MONDO:0005970 | staphylococcal pneumonia | Pneumonia, Staphylococcal | UMLS ID:C0032308 | MeSH ID:D011023 | Staphylococcal Pneumonia" +BMGC_DS02034,BMG_DS002611,"UMLS ID:C0032310 | Pneumonia, Viral | MONDO:0006012 | DOID:10533 | viral pneumonia | MeSH ID:D011024" +BMGC_DS02035,BMG_DS002612,Pneumopericardium | MeSH ID:D011026 | UMLS ID:C0032319 | SNOMEDCT ID:390745009 | SNOMEDCT ID:82542004 | Pneumopericardium (disorder) | SNOMEDCT ID:389994007 +BMGC_DS02036,BMG_DS002614,MONDO:0002076 | UMLS ID:C0032326 | MeSH ID:D011030 | OMIM ID:MTHU016219 | SNOMEDCT ID:36118008 | SNOMEDCT ID:155609008 | Pneumothorax | pneumothorax | Pneumothorax (disorder) +BMGC_DS02037,BMG_DS002615,Rothmund-Thomson syndrome (disorder) | Poikiloderma congenitale syndrome | MONDO:0010002 | SNOMEDCT ID:205565002 | UMLS ID:C0032339 | Rothmund-Thomson syndrome | SNOMEDCT ID:205572001 | DOID:2732 | Poikiloderma congenitale | SNOMEDCT ID:69093006 +BMGC_DS02038,BMG_DS002616,"DOID:3819 | MONDO:0006616 | Dermatitis, Toxicodendron | MeSH ID:D011040 | toxicodendron dermatitis | UMLS ID:C0032342" +BMGC_DS02039,BMG_DS002617,MeSH ID:D011045 | Poland Syndrome | Poland syndrome | DOID:12961 | UMLS ID:C0032357 | MONDO:0008262 | OMIM ID:173800 +BMGC_DS02040,BMG_DS002618,Acute poliomyelitis | Acute poliomyelitis (disorder) | Anterior acute poliomyelitis | Poliomyelitis (disorder) | PM - Poliomyelitis | UMLS ID:C0032371 | Infantile paralysis | SNOMEDCT ID:398102009 | DOID:4953 | Epidemic acute poliomyelitis | poliomyelitis | SNOMEDCT ID:186475007 | SNOMEDCT ID:367318001 | SNOMEDCT ID:54839009 | MONDO:0017373 | Poliomyelitis | MeSH ID:D011051 | Polio +BMGC_DS02041,BMG_DS002620,"Polychondritis, Relapsing | UMLS ID:C0032453 | MeSH ID:D011081 | DOID:2556 | relapsing polychondritis | MONDO:0019125" +BMGC_DS02042,BMG_DS002621,OMIM ID:184700 | UMLS ID:C0032460 | polycystic ovary syndrome | Polycystic Ovary Syndrome | MONDO:0008487 | DOID:11612 | MeSH ID:D011085 +BMGC_DS02043,BMG_DS002622,OMIM ID:MTHU006480 | UMLS ID:C0032461 | Erythrocytosis | polycythemia | SNOMEDCT ID:127062003 | DOID:8432 | Polycythaemia | Polycythemia | Erythrocytosis (disorder) | MONDO:0005571 | MeSH ID:D011086 +BMGC_DS02044,BMG_DS002623,acquired polycythemia vera | UMLS ID:C0032463 | MONDO:0009891 | DOID:8997 | OMIM ID:263300 | polycythemia vera +BMGC_DS02045,BMG_DS002624,"(Polymenorrhoea) or (epimenorrhoea) or (frequent periods) (finding) | (Polymenorrhoea) or (epimenorrhoea) or (frequent periods) (disorder) | Polymenorrhea (finding) | SNOMEDCT ID:156043009 | Menstrual cycle bleeding disorders, unspecified | SNOMEDCT ID:266671004 | Epimenorrhoea | (Polymenorrhea) or (epimenorrhea) or (frequent periods) | ICD11 ID:GA20.Z | Unusually frequent menses | SNOMEDCT ID:52754008 | Epimenorrhea | Polymenorrhea | Menstruation Disturbances | ICD10 ID:N92.0 | UMLS ID:C0032519 | Frequent periods | MeSH ID:D008599 | Polymenorrhoea | (Polymenorrhoea) or (epimenorrhoea) or (frequent periods) | Abnormally frequent menstruation" +BMGC_DS02046,BMG_DS002625,Polymyalgia Rheumatica | polymyalgia rheumatica | UMLS ID:C0032533 | MONDO:0019735 | MeSH ID:D011111 | DOID:853 +BMGC_DS02047,BMG_DS002626,Polyneuritis (disorder) | SNOMEDCT ID:300951006 | Neuritis | MeSH ID:D009443 | SNOMEDCT ID:76886005 | OMIM ID:MTHU068156 | Polyneuritis | UMLS ID:C0032541 | MONDO:0021718 | Inflammatory polyneuropathy | polyneuritis +BMGC_DS02048,BMG_DS002628,polyploidy | MONDO:0019934 | UMLS ID:C0032578 +BMGC_DS02049,BMG_DS002629,MONDO:0021055 | DOID:0050424 | classic familial adenomatous polyposis | familial adenomatous polyposis | UMLS ID:C0032580 +BMGC_DS02050,BMG_DS002630,MONDO:0005079 | UMLS ID:C0032584 | polyp +BMGC_DS02051,BMG_DS002631,Polyradiculopathy (disorder) | Polyradiculopathy | SNOMEDCT ID:75572007 | polyradiculopathy | UMLS ID:C0032586 | MONDO:0002960 | DOID:4307 | MeSH ID:D011128 +BMGC_DS02052,BMG_DS002632,MeSH ID:D011129 | Polyradiculoneuropathy (disorder) | DOID:4308 | polyradiculoneuropathy | SNOMEDCT ID:128078004 | MONDO:0006915 | UMLS ID:C0032587 | Polyradiculoneuropathy +BMGC_DS02053,BMG_DS002633,Pompholyx eczema | Dyshidrotic eczema | dyshidrosis | Vesicular eczema of hands and feet | Dyshidrotic dermatitis | Dyshidria | Vesicular eczema of hands and/or feet | pompholyx | SNOMEDCT ID:402567004 | UMLS ID:C0032633 | Vesicular eczema of hands and/or feet (disorder) | MONDO:0006540 | Pompholyx | DOID:9230 | Cheiropodopompholyx +BMGC_DS02054,BMG_DS002634,popliteal cyst | MONDO:0008288 | UMLS ID:C0032650 | OMIM ID:175750 +BMGC_DS02055,BMG_DS002636,porphyria | UMLS ID:C0032708 | MONDO:0037821 | DOID:13268 | porphyrin metabolism disease +BMGC_DS02056,BMG_DS002639,UMLS ID:C0032763 | MONDO:0004566 | MeSH ID:D011178 | Postgastrectomy Syndromes | postgastrectomy syndrome | DOID:8439 +BMGC_DS02057,BMG_DS002640,SNOMEDCT ID:186516001 | Post-zoster neuralgia | Postherpetic neuralgia (disorder) | Herpes zoster with other central nervous system complication | (Herpes zoster with other CNS complication) or (postherpetic neuralgia) | MONDO:0041052 | (Herpes zoster with other CNS complication) or (postherpetic neuralgia) (disorder) | postherpetic neuralgia | UMLS ID:C0032768 | PHN - Post-herpetic neuralgia | Postherpetic neuralgia | SNOMEDCT ID:2177002 +BMGC_DS02058,BMG_DS002643,DOID:2364 | post-thrombotic syndrome | UMLS ID:C0032807 | MeSH ID:D011186 | MONDO:0005928 | Postphlebitic Syndrome +BMGC_DS02059,BMG_DS002649,OMIM ID:176270 | Noonan's syndrome | Prader-Willi Syndrome | (Multiple system congenital anomalies NEC) or (Prader-Willi syndrome) or (Noonan's syndrome) (disorder) | MeSH ID:D011218 | SNOMEDCT ID:205794007 | Prader-Willi syndrome | UMLS ID:C0032897 | Prader - Willi syndrome | DOID:11983 | (Multiple system congenital anomalies NEC) or (Prader-Willi syndrome) or (Noonan's syndrome) | MONDO:0008300 | Multiple system congenital anomalies NEC +BMGC_DS02060,BMG_DS002650,DOID:10591 | pre-eclampsia | UMLS ID:C0032914 | MONDO:0005081 | preeclampsia +BMGC_DS02061,BMG_DS002654,UMLS ID:C0032962 | placenta disease | DOID:780 +BMGC_DS02062,BMG_DS002655,"UMLS ID:C0032963 | Pregnancy Complications, Cardiovascular | MeSH ID:D011249" +BMGC_DS02063,BMG_DS002656,"Pregnancy Complications, Hematologic | UMLS ID:C0032964 | MeSH ID:D011250" +BMGC_DS02064,BMG_DS002657,"MeSH ID:D011251 | UMLS ID:C0032965 | Pregnancy Complications, Infectious" +BMGC_DS02065,BMG_DS002660,ectopic pregnancy | UMLS ID:C0032987 | MONDO:0000755 | DOID:0060329 +BMGC_DS02066,BMG_DS002663,UMLS ID:C0033036 | MeSH ID:D018880 | Atrial Premature Complexes +BMGC_DS02067,BMG_DS002664,MONDO:0001780 | DOID:13709 | UMLS ID:C0033038 | premature ejaculation +BMGC_DS02068,BMG_DS002667,Presbyopia | Presbyopia (disorder) | UMLS ID:C0033075 | ICD10 ID:H52.4 | SNOMEDCT ID:155135005 | ICD11 ID:9D00.3 | presbyopia | MONDO:0001330 | MeSH ID:D011305 | DOID:11638 | SNOMEDCT ID:41256004 +BMGC_DS02069,BMG_DS002669,UMLS ID:C0033117 | DOID:9286 | (Priapism) or (erection - painful) (disorder) | Priapism (disorder) | ICD11 ID:GB06.1 | SNOMEDCT ID:155930001 | MONDO:0004745 | SNOMEDCT ID:198027001 | Mentulagra | ICD10 ID:N48.3 | Painful erection | Priapism | Pathologic erection | priapism | OMIM ID:MTHU054345 | SNOMEDCT ID:6273006 | (Priapism) or (erection - painful) | MeSH ID:D011317 | Erection - painful +BMGC_DS02070,BMG_DS002671,"MONDO:0004742 | MeSH ID:D013132 | UMLS ID:C0033132 | primary cerebellar degeneration | DOID:9277 | Cerebellar Degenerations, Primary | Spinocerebellar Degenerations" +BMGC_DS02071,BMG_DS002672,UMLS ID:C0033139 | Primary Insomnia | MeSH ID:D007319 | Sleep Initiation and Maintenance Disorders +BMGC_DS02072,BMG_DS002673,"UMLS ID:C0033141 | Cardiomyopathies, Primary | Cardiomyopathies | DOID:0050700 | MeSH ID:D009202 | MONDO:0005110 | idiopathic cardiomyopathy | cardiomyopathy" +BMGC_DS02073,BMG_DS002674,Kraurosis ani | SNOMEDCT ID:266534007 | Proctitis | (GIT disorders NOS) or (kraurosis of anus) or (proctitis) or (rectal irritation) or (stercoral ulcer) (disorder) | Gastrointestinal tract disorders NOS | MONDO:0005538 | MeSH ID:D011349 | DOID:3127 | Proctitis (disorder) | Kraurosis of anus | Irritation - rectum | UMLS ID:C0033246 | SNOMEDCT ID:3951002 | SNOMEDCT ID:155806004 | Ulcer - stercoral | GIT disorders NOS | (GIT disorders NOS) or (kraurosis of anus) or (proctitis) or (rectal irritation) or (stercoral ulcer) | Rectal irritation | proctitis | OMIM ID:MTHU007443 | Anus - kraurosis +BMGC_DS02074,BMG_DS002678,"SNOMEDCT ID:190590004 | Progeria | progeria | Adult premature ageing syndrome | Premature ageing syndrome | Hutchinson-Gilford syndrome (disorder) | MONDO:0008310;MONDO:0020732 | Premature aging syndrome | Endocrine diseases, unspecified | ICD10 ID:E34.8 | ICD11 ID:5B3Z | DOID:3911 | Premature senility syndrome | UMLS ID:C0033300 | Hutchinson-Gilford progeria syndrome | SNOMEDCT ID:238870004 | Adult premature aging syndrome | Progeria syndrome | MeSH ID:D011371 | OMIM ID:176670 | Hutchinson-Gilford syndrome | Progeria (disorder) | SNOMEDCT ID:238869000" +BMGC_DS02075,BMG_DS002680,prolactinoma | MONDO:0010911 | DOID:5394 | UMLS ID:C0033375 | OMIM ID:600634 | prolactin-producing pituitary gland adenoma +BMGC_DS02076,BMG_DS002682,prostate disorder | prostate disease | Prostatic Diseases | UMLS ID:C0033575 | DOID:47 | MeSH ID:D011469 | MONDO:0003105 +BMGC_DS02077,BMG_DS002683,DOID:10283 | MONDO:0021259 | prostate neoplasm | prostate cancer | UMLS ID:C0033578 +BMGC_DS02078,BMG_DS002685,UMLS ID:C0033581 | MONDO:0005280 | DOID:14654 | prostatitis +BMGC_DS02079,BMG_DS002686,UMLS ID:C0033587 | MeSH ID:D011475 | Prosthesis Failure | Prosthesis Loosening +BMGC_DS02080,BMG_DS002687,Protein Deficiency | MeSH ID:D011488 | UMLS ID:C0033626 +BMGC_DS02081,BMG_DS002688,MONDO:0001371 | UMLS ID:C0033677 | protein-energy malnutrition | DOID:11801 +BMGC_DS02082,BMG_DS002689,OMIM ID:226300 | MeSH ID:D011504 | DOID:10611 | MONDO:0009174 | UMLS ID:C0033680 | protein-losing enteropathy | Protein-Losing Enteropathies +BMGC_DS02083,BMG_DS002690,UMLS ID:C0033687 | DOID:576 | proteinuria | MONDO:0003634 +BMGC_DS02084,BMG_DS002691,MeSH ID:D011512 | UMLS ID:C0033700 | Proteus Infections | MONDO:0006929 | Proteus infectious disease +BMGC_DS02085,BMG_DS002693,Protozoan Infections | UMLS ID:C0033740 | DOID:2789 | parasitic protozoa infectious disease | MeSH ID:D011528 | MONDO:0002428 | protozoa infectious disease +BMGC_DS02086,BMG_DS002695,MeSH ID:D011535 | MONDO:0007032 | OMIM ID:100100 | DOID:0060889 | Prune Belly Syndrome | prune belly syndrome | UMLS ID:C0033770 +BMGC_DS02087,BMG_DS002698,"Mucolipidoses | Pseudo-Hurler Polydystrophy | MeSH ID:D009081 | MONDO:0018931 | mucolipidosis type III, alpha/beta | UMLS ID:C0033788 | OMIM ID:252600" +BMGC_DS02088,BMG_DS002699,pseudobulbar palsy | Pseudobulbar Palsy | DOID:12680 | MONDO:0006930 | UMLS ID:C0033790 | MeSH ID:D020828 +BMGC_DS02089,BMG_DS002701,SNOMEDCT ID:156881000 | UMLS ID:C0033802 | OMIM ID:MTHU018950 | Crystal synovitis | Pseudogout | Crystal arthritis | (Musculoskeletal NOS: [disease] or [disorder]) or (chondrocalcinosis) or (pseudogout) | SNOMEDCT ID:201624004 | Pyrophosphate arthritis | SNOMEDCT ID:268142006 | Musculoskeletal disease NOS | Crystal arthropathies | Musculo-skeletal disorder NOS | chondrocalcinosis | SNOMEDCT ID:239834007 | Pyrophosphate arthritis (disorder) | Chondrocalcinosis | (Crystal: [arthropathies] or [arthritis] or [synovitis]) or (chondrocalcinosis) or (pseudogout) (disorder) | (Musculoskeletal NOS: [disease] or [disorder]) or (chondrocalcinosis) or (pseudogout) (disorder) | (Crystal: [arthropathies] or [arthritis] or [synovitis]) or (chondrocalcinosis) or (pseudogout) | DOID:1156 +BMGC_DS02090,BMG_DS002702,DOID:3765 | UMLS ID:C0033804 | pseudohermaphroditism | MONDO:0005518 +BMGC_DS02091,BMG_DS002703,Pseudohypoaldosteronism | Pseudohypoaldosteronism (disorder) | DOID:4479 | pseudohypoaldosteronism | MeSH ID:D011546 | Pseudohypoadrenocorticalism | MONDO:0018638 | UMLS ID:C0033805 | SNOMEDCT ID:77098009 +BMGC_DS02092,BMG_DS002704,pseudohypoparathyroidism | Pseudohypoparathyroidism | SNOMEDCT ID:190867002 | SNOMEDCT ID:58976002 | (Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) (disorder) | ICD11 ID:5A50.1 | Parathyroid hormone resistant hypoparathyroidism | ICD10 ID:E20.1 | MONDO:0019992 | Constitutional chronic hypocalcaemia | DOID:4184 | Constitutional chronic hypocalcemia | Pseudopseudohypoparathyroidism | Pseudohypoparathyroidism (disorder) | UMLS ID:C0033806 | Familial pseudohypoparathyroidism | OMIM ID:MTHU005113 | (Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) | MeSH ID:D011547 +BMGC_DS02093,BMG_DS002705,MONDO:0005141 | MeSH ID:D011552 | Pseudomonas infection | Pseudomonas Infections | UMLS ID:C0033817 +BMGC_DS02094,BMG_DS002706,UMLS ID:C0033822 | DOID:3559 | pseudomyxoma peritonei | MONDO:0017048 +BMGC_DS02095,BMG_DS002707,DOID:4183 | (Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) (disorder) | pseudopseudohypoparathyroidism | Normocalcemic pseudohypoparathyroidism | Normocalcemic pseudohypoparathyroidism (disorder) | MONDO:0012912 | Pseudohypoparathyroidism | SNOMEDCT ID:8084001 | OMIM ID:612463 | Normocalcaemic pseudohypoparathyroidism | SNOMEDCT ID:237659007 | (Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) | SNOMEDCT ID:190867002 | Pseudopseudohypoparathyroidism (disorder) | Pseudopseudohypoparathyroidism | UMLS ID:C0033835 | MeSH ID:D011556 +BMGC_DS02096,BMG_DS002708,UMLS ID:C0033838 | DOID:7365 | Kimura Disease | MeSH ID:D000082242 | MONDO:0018830 | Kimura disease +BMGC_DS02097,BMG_DS002710,MeSH ID:D011559 | DOID:11459 | Pseudotumor Cerebri | UMLS ID:C0033845 | OMIM ID:243200 | pseudotumor cerebri | MONDO:0009468 +BMGC_DS02098,BMG_DS002711,MONDO:0024308 | Pseudoxanthoma Elasticum | pseudoxanthoma elasticum | MeSH ID:D011561 | DOID:2738 | pseudoxanthoma elasticum (inherited or acquired) | UMLS ID:C0033847 +BMGC_DS02099,BMG_DS002712,ICD10 ID:L40 | DOID:8893 | OMIM ID:MTHU036411 | MeSH ID:D011565 | psoriasis | MONDO:0005083 | UMLS ID:C0033860 | SNOMEDCT ID:9014002 | SNOMEDCT ID:156369008 | Psoriasis (disorder) | Psoriasis +BMGC_DS02100,BMG_DS002713,Tension-Type Headache | MeSH ID:D018781 | Tension Headache | UMLS ID:C0033893 +BMGC_DS02101,BMG_DS002714,alcoholic psychosis | MONDO:0002330 | UMLS ID:C0033936 | DOID:252 +BMGC_DS02102,BMG_DS002715,drug psychosis | MONDO:0006730 | DOID:1742 | UMLS ID:C0033937 +BMGC_DS02103,BMG_DS002717,inhibited female orgasm | DOID:7518 | UMLS ID:C0033948 +BMGC_DS02104,BMG_DS002718,MONDO:0003522 | inhibited male orgasm | UMLS ID:C0033949 | male orgasm disorder | DOID:5576 +BMGC_DS02105,BMG_DS002719,UMLS ID:C0033951 | psychosexual disorder | DOID:10132 +BMGC_DS02106,BMG_DS002721,psychotic disorder | MONDO:0005485 | UMLS ID:C0033975 +BMGC_DS02107,BMG_DS002722,pterygium | MONDO:0005085 | DOID:0002116 | UMLS ID:C0033999 +BMGC_DS02108,BMG_DS002723,"precocious puberty | Precocious Puberty | MONDO:0000088 | Puberty, Precocious | UMLS ID:C0034013 | MeSH ID:D011629" +BMGC_DS02109,BMG_DS002724,puerperal disorder | UMLS ID:C0034040 | MONDO:0044013 | Puerperal Disorders | MeSH ID:D011644 +BMGC_DS02110,BMG_DS002725,UMLS ID:C0034041 | Puerperal Infection | MeSH ID:D011645 | MONDO:0021742 | puerperal infection +BMGC_DS02111,BMG_DS002727,DOID:12120 | MeSH ID:D011649 | UMLS ID:C0034050 | pulmonary alveolar proteinosis | Pulmonary Alveolar Proteinosis +BMGC_DS02112,BMG_DS002728,MONDO:0006932 | DOID:11396 | UMLS ID:C0034063 | pulmonary edema +BMGC_DS02113,BMG_DS002729,pulmonary embolism | MONDO:0005279 | DOID:9477 | UMLS ID:C0034065 +BMGC_DS02114,BMG_DS002730,pulmonary embolism and infarction | Pulmonary embolism with pulmonary infarction (disorder) | DOID:8516 | SNOMEDCT ID:1001000119102 | Pulmonary embolism with pulmonary infarction | UMLS ID:C0034066 | Pulmonary embolism with infarction +BMGC_DS02115,BMG_DS002731,UMLS ID:C0034067 | pulmonary emphysema | Pulmonary Emphysema | MeSH ID:D011656 | MONDO:0004849 +BMGC_DS02116,BMG_DS002732,MeSH ID:D011657 | pulmonary eosinophilia | MONDO:0004802 | DOID:9498 | Pulmonary Eosinophilia | UMLS ID:C0034068 +BMGC_DS02117,BMG_DS002733,MeSH ID:D011658 | Pulmonary Fibrosis | DOID:3770 | pulmonary fibrosis | MONDO:0002771 | UMLS ID:C0034069 +BMGC_DS02118,BMG_DS002734,SNOMEDCT ID:83291003 | Right heart failure due to pulmonary hypertension | cor pulmonale | OMIM ID:MTHU007637 | Pulmonary heart disease | MONDO:0004596 | Cor pulmonale | DOID:8515 | Cor pulmonale (disorder) | UMLS ID:C0034072 +BMGC_DS02119,BMG_DS002735,pulmonary embolism and infarction | MONDO:0004597 | Pulmonary Infarction | UMLS ID:C0034074 | MeSH ID:D054060 +BMGC_DS02120,BMG_DS002736,pulmonary subvalvular stenosis | MONDO:0006935 | DOID:8861 | UMLS ID:C0034084 +BMGC_DS02121,BMG_DS002737,UMLS ID:C0034087 | pulmonary valve disease | MONDO:0003628 | DOID:5749 | pulmonary valve disorder +BMGC_DS02122,BMG_DS002738,UMLS ID:C0034088 | MONDO:0001927 | pulmonary valve insufficiency | DOID:14265 +BMGC_DS02123,BMG_DS002739,Pulmonary Valve Stenosis | valvar pulmonary stenosis | pulmonary valve stenosis | UMLS ID:C0034089 | DOID:6420 | MeSH ID:D011666 | MONDO:0006936;MONDO:0020395 +BMGC_DS02124,BMG_DS002740,pulmonary venoocclusive disease | MONDO:0009937 | UMLS ID:C0034091 | DOID:5453 +BMGC_DS02125,BMG_DS002741,pulp degeneration | MONDO:0001216 | ICD11 ID:DA09.4 | ICD10 ID:K04.2 | SNOMEDCT ID:22361007 | Pulp degeneration (disorder) | DOID:11189 | UMLS ID:C0034100 | Pulp degeneration +BMGC_DS02126,BMG_DS002742,Pulpitis | MONDO:0006937 | SNOMEDCT ID:32620007 | ICD10 ID:K04.0 | MeSH ID:D011671 | ICD11 ID:DA09.0 | pulpitis | UMLS ID:C0034103 | Pulpitis (disorder) | DOID:11121 | SNOMEDCT ID:155638006 +BMGC_DS02127,BMG_DS002743,DOID:238 | MONDO:0002285 | UMLS ID:C0034124 | pupil disease | Pupil Disorders | MeSH ID:D011681 | pupil disorder +BMGC_DS02128,BMG_DS002744,"inborn disorder of purine or pyrimidine metabolism | UMLS ID:C0034139 | MeSH ID:D011686 | MONDO:0019254 | Purine-Pyrimidine Metabolism, Inborn Errors" +BMGC_DS02129,BMG_DS002745,SNOMEDCT ID:191313005 | SNOMEDCT ID:246989006 | SNOMEDCT ID:387778001 | Thrombocytopenic purpura | MONDO:0002610 | OMIM ID:MTHU002611 | SNOMEDCT ID:154822006 | Thrombocytopenic purp. | Disorder characterised by purpura | SNOMEDCT ID:118653003 | Purpuric disorder | Purpura (morphologic abnormality) | Purpura/haemorrhagic condition | purpura | (Purpura/haemorrhagic condition) or (purpura) or (thrombocytopenic purpura) | Purpura/hemorrhagic condition | MeSH ID:D011693 | Purpura simplex (disorder) | Purpuric disorder (disorder) | (Purpura/hemorrhagic condition) or (purpura) or (thrombocytopenic purpura) | Purpura (disorder) | Disorder characterized by purpura | SNOMEDCT ID:423902002 | (Purpura/haemorrhagic condition) or (purpura) or (thrombocytopenic purpura) (disorder) | UMLS ID:C0034150 | Purpura | SNOMEDCT ID:12393003 | SNOMEDCT ID:267564008 | DOID:3326 | Simple bruising +BMGC_DS02130,BMG_DS002746,"MONDO:0006792 | DOID:3325 | UMLS ID:C0034151 | hyperglobulinemic purpura | MeSH ID:D011694 | Purpura, Hyperglobulinemic" +BMGC_DS02131,BMG_DS002747,IgA Vasculitis | Henoch-Schoenlein Purpura | UMLS ID:C0034152 | MeSH ID:D011695 | MONDO:0019167 | DOID:11123 | Henoch-Schoenlein purpura | immunoglobulin A vasculitis +BMGC_DS02132,BMG_DS002748,"UMLS ID:C0034155 | DOID:10772 | MeSH ID:D011697 | Purpura, Thrombotic Thrombocytopenic | MONDO:0018896 | thrombotic thrombocytopenic purpura" +BMGC_DS02133,BMG_DS002749,Pyelitis | pyelitis | MeSH ID:D011702 | MONDO:0006938 | SNOMEDCT ID:27174002 | Pyelitis (disorder) | UMLS ID:C0034183 | DOID:2744 +BMGC_DS02134,BMG_DS002751,SNOMEDCT ID:45816000 | Pyelonephritis | pyelonephritis | DOID:11400 | Pyelonephritis (disorder) | ICD10 ID:N16 | MeSH ID:D011704 | OMIM ID:MTHU042201 | MONDO:0006939 | UMLS ID:C0034186 +BMGC_DS02135,BMG_DS002752,"DOID:11401 | MONDO:0007022 | UMLS ID:C0034188 | xanthogranulomatous pyelonephritis | MeSH ID:D011705 | Pyelonephritis, Xanthogranulomatous" +BMGC_DS02136,BMG_DS002754,UMLS ID:C0034194 | MONDO:0001561 | DOID:12639 | pyloric stenosis +BMGC_DS02137,BMG_DS002755,"ICD11 ID:EB21 | Pyoderma | Skin infection, localised NOS | SNOMEDCT ID:156323008 | DOID:4223 | OMIM ID:MTHU042265 | Pyoderma gangrenosum | SNOMEDCT ID:70759006 | MeSH ID:D011711 | Pyogenic infection of skin and subcutis | pyoderma | (Skin infection, localised NOS) or (pyoderma) or (pyogenic granuloma) | Pustuloderma | (Skin infection, localized NOS) or (pyoderma) or (pyogenic granuloma) | Skin infection, localized NOS | SNOMEDCT ID:267838007 | Septic dermatitis | MONDO:0002922 | UMLS ID:C0034212 | Pyogenic dermatitis | Suppurative dermatitis | Purulent dermatitis | Pyoderma (disorder) | (Skin infection, localised NOS) or (pyoderma) or (pyogenic granuloma) (disorder) | Pyogenic granuloma | ICD10 ID:L08.0 | Pyodermia" +BMGC_DS02138,BMG_DS002759,"SNOMEDCT ID:266651008 | Pelvic inflam. disease NOS | SNOMEDCT ID:155974004 | Pelvic inflam disease,chronic | Fallopian tube abscess | UMLS ID:C0034220 | SNOMEDCT ID:9400007 | MONDO:0003618 | (Pelvic inflammatory disease: [NOS] or [chronic]) or (pyosalpinx) (disorder) | Pyosalpingitis | pyosalpinx | (Pelvic inflammatory disease: [NOS] or [chronic]) or (pyosalpinx) | DOID:5732 | SNOMEDCT ID:397810006 | SNOMEDCT ID:35263009 | Abscess of fallopian tube (disorder) | Pelvic inflammatory disease NOS | Chronic pelvic inflammatory disease | Abscess of fallopian tube | Pyosalpinx | Pyosalpingitis (disorder) | Pyosalpinx (disorder)" +BMGC_DS02139,BMG_DS002760,SNOMEDCT ID:85884009 | Renal disease NOS | pyoureter | DOID:1425 | SNOMEDCT ID:266627003 | MONDO:0001922 | Pyoureter (disorder) | Pyoureter | (Renal disease NOS) or (pyoureter) (disorder) | (Renal disease NOS) or (pyoureter) | UMLS ID:C0034223 +BMGC_DS02140,BMG_DS002761,DOID:3651 | OMIM ID:266150 | UMLS ID:C0034341 | pyruvate carboxylase deficiency disease | Pyruvate Carboxylase Deficiency Disease | MeSH ID:D015324 | MONDO:0009949 +BMGC_DS02141,BMG_DS002762,Pyruvate Dehydrogenase Complex Deficiency Disease | MONDO:0019169 | DOID:3649 | UMLS ID:C0034345 | pyruvate dehydrogenase deficiency | MeSH ID:D015325 | pyruvate decarboxylase deficiency +BMGC_DS02142,BMG_DS002763,"UMLS ID:C0034350 | MeSH ID:D015323 | Pyruvate Metabolism, Inborn Errors" +BMGC_DS02143,BMG_DS002764,pyuria | DOID:1439 | UMLS ID:C0034359 | MONDO:0001953 +BMGC_DS02144,BMG_DS002765,MONDO:0019186 | MeSH ID:D011778 | Q Fever | Q fever | UMLS ID:C0034362 | DOID:11100 +BMGC_DS02145,BMG_DS002766,"SNOMEDCT ID:11538006 | Quadriplegia (disorder) | MONDO:0001590 | DOID:12835 | Tetraplegia | SNOMEDCT ID:155030003 | quadriplegia | ICD11 ID:MB50.Z | Tetraplegia, unspecified | MeSH ID:D011782 | UMLS ID:C0034372 | ICD10 ID:G82.5 | OMIM ID:MTHU038030 | Quadriplegia" +BMGC_DS02146,BMG_DS002767,Lyssa | Rabies (disorder) | UMLS ID:C0034494 | SNOMEDCT ID:14168008 | rabies | DOID:11260 | Hydrophobia | Rabies | MONDO:0019173 +BMGC_DS02147,BMG_DS002768,Radiation Injuries | Radiation Syndrome | MONDO:0043458 | UMLS ID:C0034535 | radiation injury | MeSH ID:D011832 +BMGC_DS02148,BMG_DS002769,SNOMEDCT ID:82473003 | Radiculopathy | MeSH ID:D011843 | UMLS ID:C0034544 | MONDO:0021765 | radiculitis | Radiculitis | Radiculitis (disorder) | SNOMEDCT ID:123255000 +BMGC_DS02149,BMG_DS002770,Radiodermatitis | radiodermatitis | Radiation-Induced Dermatitis | MeSH ID:D011855 | MONDO:0043771 | UMLS ID:C0034561 +BMGC_DS02150,BMG_DS002772,MeSH ID:D011906 | rat-bite fever | UMLS ID:C0034686 | MONDO:0006941 | Rat-Bite Fever +BMGC_DS02151,BMG_DS002773,MeSH ID:D011928 | Raynaud disease | UMLS ID:C0034734 | Raynaud Disease | DOID:10300 | OMIM ID:179600 | MONDO:0008364 +BMGC_DS02152,BMG_DS002774,MeSH ID:D011928 | Raynaud Phenomenon | Raynaud Disease | UMLS ID:C0034735 +BMGC_DS02153,BMG_DS002776,Rectal Diseases | MeSH ID:D012002 | DOID:1285 | rectal disease | rectal disorder | UMLS ID:C0034882 | MONDO:0001593 +BMGC_DS02154,BMG_DS002777,rectal neoplasm | UMLS ID:C0034885 | MONDO:0002165 | rectal benign neoplasm | DOID:1984 +BMGC_DS02155,BMG_DS002779,DOID:9307 | MONDO:0004754 | MeSH ID:D012005 | UMLS ID:C0034888 | rectal prolapse | Rectal Prolapse +BMGC_DS02156,BMG_DS002780,"MONDO:0001705 | Red-Cell Aplasia, Pure | Pure Red-Cell Aplasia | pure red-cell aplasia | UMLS ID:C0034902 | DOID:1340 | MeSH ID:D012010" +BMGC_DS02157,BMG_DS002782,complex regional pain syndrome type 1 | reflex sympathetic dystrophy | OMIM ID:604335 | MONDO:0011441 | Reflex Sympathetic Dystrophy | UMLS ID:C0034931 | DOID:1811 | MeSH ID:D012019 +BMGC_DS02158,BMG_DS002783,Refractive Errors | MONDO:0004892 | UMLS ID:C0034951 | MeSH ID:D012030 | DOID:9835 | refractive error +BMGC_DS02159,BMG_DS002784,Refsum Disease | MeSH ID:D012035 | Refsum disease | adult Refsum disease | OMIM ID:600964 | DOID:10582 | MONDO:0009958 | UMLS ID:C0034960 | OMIM ID:266500 +BMGC_DS02160,BMG_DS002785,"UMLS ID:C0035012 | DOID:6196 | Reiter Syndrome | reactive arthritis | Arthritis, Reactive | MeSH ID:D016918" +BMGC_DS02161,BMG_DS002786,Relapsing Fever | MONDO:0019633 | UMLS ID:C0035021 | relapsing fever | MeSH ID:D012061 | DOID:13034 +BMGC_DS02162,BMG_DS002787,UMLS ID:C0035022 | Tick-borne relapsing fever | ICD11 ID:1C1J.0 | DOID:13036 | SNOMEDCT ID:10301003 | MONDO:0001621 | tick-borne relapsing fever | Tick-borne relapsing fever (disorder) | ICD10 ID:A68.1 | Tickborne relapsing fever +BMGC_DS02163,BMG_DS002788,Renal Artery Obstruction | UMLS ID:C0035066 | DOID:2972 | renal artery obstruction | MONDO:0006945 | MeSH ID:D012078 +BMGC_DS02164,BMG_DS002789,Renal Artery Obstruction | UMLS ID:C0035067 | Renal Artery Stenosis | MeSH ID:D012078 +BMGC_DS02165,BMG_DS002790,DOID:1074 | Kidney Failure | UMLS ID:C0035078 | MONDO:0001106 | Renal Insufficiency | MeSH ID:D051437 | kidney failure +BMGC_DS02166,BMG_DS002792,renal osteodystrophy | DOID:13068 | MeSH ID:D012080 | UMLS ID:C0035086 | MONDO:0006946 | Chronic Kidney Disease-Mineral and Bone Disorder | Renal Osteodystrophy +BMGC_DS02167,BMG_DS002793,"renal tubular transport disease | Renal Tubular Transport, Inborn Errors | UMLS ID:C0035091 | DOID:447 | MeSH ID:D015499 | MONDO:0006510" +BMGC_DS02168,BMG_DS002796,Respiration Disorders | MeSH ID:D012120 | respiratory system disorder | MONDO:0005087 | UMLS ID:C0035204 +BMGC_DS02169,BMG_DS002797,"Respiratory Distress Syndrome, Newborn | UMLS ID:C0035220 | MONDO:0100077 | congenital alveolar dysplasia | MeSH ID:D012127" +BMGC_DS02170,BMG_DS002798,"MONDO:0100130 | adult acute respiratory distress syndrome | Respiratory Distress Syndrome | Respiratory Distress Syndrome, Adult | adult respiratory distress syndrome | UMLS ID:C0035222 | DOID:11394 | MeSH ID:D012128" +BMGC_DS02171,BMG_DS002800,respiratory syncytial virus infectious disease | UMLS ID:C0035235 | Respiratory Syncytial Virus Infections | MONDO:0001577 | DOID:1273 | MeSH ID:D018357 +BMGC_DS02172,BMG_DS002801,Respiratory Tract Diseases | MeSH ID:D012140 | UMLS ID:C0035242 +BMGC_DS02173,BMG_DS002802,respiratory tract infectious disorder | MONDO:0024355 | UMLS ID:C0035243 | MeSH ID:D012141 | Respiratory Tract Infections +BMGC_DS02174,BMG_DS002804,MONDO:0005391 | MeSH ID:D012148 | UMLS ID:C0035258 | DOID:0050425 | restless legs syndrome | Restless Legs Syndrome +BMGC_DS02175,BMG_DS002806,"UMLS ID:C0035288 | reticuloendotheliosis, X-linked | DOID:1731 | MONDO:0010721 | histoplasmosis | OMIM ID:312500" +BMGC_DS02176,BMG_DS002807,reticulohistiocytic granuloma | DOID:4394 | UMLS ID:C0035290 | MONDO:0002984 +BMGC_DS02177,BMG_DS002808,Retinal Artery Occlusion | retinal artery occlusion | DOID:8483 | MeSH ID:D015356 | MONDO:0006948 | UMLS ID:C0035302 +BMGC_DS02178,BMG_DS002809,MONDO:0004580 | DOID:8466 | retinal degeneration | UMLS ID:C0035304 +BMGC_DS02179,BMG_DS002810,Retinal Detachment | MeSH ID:D012163 | DOID:5327 | OMIM ID:312530 | retinal detachment | OMIM ID:180050 | MONDO:0008375 | UMLS ID:C0035305 +BMGC_DS02180,BMG_DS002811,MONDO:0005283 | MeSH ID:D012164 | DOID:5679 | retinal disease | retinal disorder | Retinal Diseases | UMLS ID:C0035309 +BMGC_DS02181,BMG_DS002812,Retinal Drusen | retinal drusen | DOID:2569 | MONDO:0006949 | UMLS ID:C0035312 | MeSH ID:D015593 +BMGC_DS02182,BMG_DS002813,"acute retinal necrosis syndrome | UMLS ID:C0035319 | MeSH ID:D015882 | DOID:3611 | MONDO:0006638 | Retinal Necrosis Syndrome, Acute" +BMGC_DS02183,BMG_DS002814,MeSH ID:D012167 | DOID:12514 | UMLS ID:C0035321 | Retinal Perforations | MONDO:0001539 | retinal perforation +BMGC_DS02184,BMG_DS002815,(Retinal vascular occlusion) or (amaurosis fugax) or (retinal thrombosis) (disorder) | Retinal vascular occlusion (disorder) | SNOMEDCT ID:155111000 | Retinal vasc. occlusion | SNOMEDCT ID:267717005 | Retinal vascular occlusion | Amaurosis fugax | retinal vascular occlusion | UMLS ID:C0035326 | MONDO:0002089 | (Retinal vascular occlusion) or (amaurosis fugax) or (retinal thrombosis) | Retinal thrombosis | SNOMEDCT ID:73757007 | DOID:1729 +BMGC_DS02185,BMG_DS002816,MONDO:0006951 | UMLS ID:C0035328 | DOID:1727 | Retinal Vein Occlusion | retinal vein occlusion | MeSH ID:D012170 +BMGC_DS02186,BMG_DS002817,retinitis | SNOMEDCT ID:399463004 | Retinitis (disorder) | Retinitis | MeSH ID:D012173 | OMIM ID:MTHU047424 | Retinopathy | UMLS ID:C0035333 | MONDO:0002708 | DOID:3612 | SNOMEDCT ID:35426003 +BMGC_DS02187,BMG_DS002818,DOID:10584 | UMLS ID:C0035334 | OMIM ID:268000 | retinitis pigmentosa | Retinitis Pigmentosa | MeSH ID:D012174 | MONDO:0019200 +BMGC_DS02188,BMG_DS002819,MONDO:0008380 | retinoblastoma | UMLS ID:C0035335 | DOID:768 +BMGC_DS02189,BMG_DS002820,MONDO:0006952 | retinopathy of prematurity | MeSH ID:D012178 | Retinopathy of Prematurity | UMLS ID:C0035344 | DOID:13025 +BMGC_DS02190,BMG_DS002821,UMLS ID:C0035352 | retrocochlear disease | MONDO:0002453 | MeSH ID:D012181 | Retrocochlear Diseases | DOID:2889 +BMGC_DS02191,BMG_DS002822,SNOMEDCT ID:266626007 | (Ureter obstruction &/or stricture) or (retroperitoneal fibrosis) (disorder) | Sclerosing retroperitonitis | Retroperitoneal fibrosis (disorder) | Retroperitoneal fibrosis | SNOMEDCT ID:49120005 | SNOMEDCT ID:155873006 | OMIM ID:MTHU068355 | Ureter stricture/obstruction | Ureter - stricture | ICD10 ID:K68.2 | (Ureter obstruction &/or stricture) or (retroperitoneal fibrosis) | RPF - Retroperitoneal fibrosis | IgG4-related retroperitoneal fibrosis | Ormond's disease | UMLS ID:C0035357 | MONDO:0018848 | Stricture - ureter | Stricture of ureter +BMGC_DS02192,BMG_DS002823,UMLS ID:C0035358 | DOID:5875 | retroperitoneal cancer | retroperitoneal neoplasm | MONDO:0024645 +BMGC_DS02193,BMG_DS002825,UMLS ID:C0035372 | MONDO:0010726 | DOID:1206 | Rett Syndrome | OMIM ID:312750 | Rett syndrome | MeSH ID:D015518 +BMGC_DS02194,BMG_DS002826,MeSH ID:D012202 | MONDO:0005942 | Reye syndrome | DOID:14525 | UMLS ID:C0035400 | Reye Syndrome +BMGC_DS02195,BMG_DS002827,MONDO:0006953 | UMLS ID:C0035404 | Rh Isoimmunization | DOID:4175 | MeSH ID:D012203 | Rh isoimmunization +BMGC_DS02196,BMG_DS002829,UMLS ID:C0035412 | DOID:3247 | MONDO:0005212 | rhabdomyosarcoma +BMGC_DS02197,BMG_DS002830,Non-articular rheumatism | SNOMEDCT ID:29913006 | UMLS ID:C0035435 | Rheumatism (disorder) | NAR - Non-articular rheumatism | MeSH ID:D012216 | Rheumatism | Musculoskeletal pain disorder | Rheumatic Diseases | SNOMEDCT ID:396332003 | Locomotor pain disorder | Soft tissue rheumatism +BMGC_DS02198,BMG_DS002831,MONDO:0017767 | UMLS ID:C0035436 | rheumatic fever | MeSH ID:D012213 | DOID:1586 | Rheumatic Fever +BMGC_DS02199,BMG_DS002832,rheumatic heart disease | Rheumatic Heart Disease | MeSH ID:D012214 | UMLS ID:C0035439 | DOID:0050827 | MONDO:0006955 +BMGC_DS02200,BMG_DS002833,Acute rheumatic heart disease (disorder) | acute rheumatic heart disease | DOID:8481 | rheumatic myocarditis | Acute rheumatic heart disease | Active rheumatic fever with heart involvement | Acute rheumatic fever with heart disease (disorder) | SNOMEDCT ID:312591002 | UMLS ID:C0035440 | MONDO:0021777 | SNOMEDCT ID:8805001 | Acute rheumatic fever with heart disease | Acute rheumatic fever with heart involvement +BMGC_DS02201,BMG_DS002836,OMIM ID:MTHU012038 | SNOMEDCT ID:70076002 | rhinitis | MeSH ID:D012220 | Rhinitis (disorder) | MONDO:0003014 | Irritation of nose | Rhinitis | UMLS ID:C0035455 | DOID:4483 +BMGC_DS02202,BMG_DS002837,"Rhinitis, Allergic, Perennial | perennial allergic rhinitis | MeSH ID:D012221 | UMLS ID:C0035457 | MONDO:0024332" +BMGC_DS02203,BMG_DS002838,"UMLS ID:C0035459 | MeSH ID:D012222 | DOID:4731 | Rhinitis, Atrophic | MONDO:0005659 | atrophic rhinitis" +BMGC_DS02204,BMG_DS002839,"MeSH ID:D012223 | vasomotor rhinitis | Rhinitis, Vasomotor | MONDO:0006004 | UMLS ID:C0035460 | DOID:4730" +BMGC_DS02205,BMG_DS002841,Rhinoscleroma (disorder) | MeSH ID:D012226 | rhinoscleroma | Rhinoscleroma | SNOMEDCT ID:72409005 | Scleroma | Infection by Klebsiella rhinoscleromatis | MONDO:0005945 | DOID:11336 | UMLS ID:C0035468 +BMGC_DS02206,BMG_DS002843,UMLS ID:C0035528 | MeSH ID:D012257 | riboflavin deficiency | Riboflavin Deficiency | DOID:8454 +BMGC_DS02207,BMG_DS002844,(Vitamin D deficiency) or (osteomalacia) or (rickets) (disorder) | DOID:10609 | Rickets | SNOMEDCT ID:154728003 | rickets | Vitamin D deficiency | UMLS ID:C0035579 | Osteomalacia | (Vitamin D deficiency) or (osteomalacia) or (rickets) | MONDO:0005520 | MeSH ID:D012279 | SNOMEDCT ID:41345002 | OMIM ID:MTHU006645 | SNOMEDCT ID:190639009 | Rickets (disorder) +BMGC_DS02208,BMG_DS002845,Rickettsia Infections | Rickettsiosis | MeSH ID:D012282 | MONDO:0006956 | UMLS ID:C0035585 +BMGC_DS02209,BMG_DS002847,UMLS ID:C0035597 | SNOMEDCT ID:75096007 | Spotted Fever Group Rickettsiosis | MeSH ID:D000073605 | Rickettsialpox | Kew Gardens spotted fever | Rickettsialpox (disorder) | rickettsialpox | Rickettsialpox due to Rickettsia akari | DOID:11103 | Vesicular rickettsiosis | MONDO:0019360 +BMGC_DS02210,BMG_DS002848,Rift Valley Fever | Rift valley fever | MONDO:0017880 | Rift Valley fever | MeSH ID:D012295 | DOID:1328 | UMLS ID:C0035613 +BMGC_DS02211,BMG_DS002849,UMLS ID:C0035615 | MONDO:0020417 | right aortic arch +BMGC_DS02212,BMG_DS002852,UMLS ID:C0035639 | DOID:0070620 | ring chromosome syndrome +BMGC_DS02213,BMG_DS002854,UMLS ID:C0035793 | Rocky Mountain spotted fever | Rocky Mountain Spotted Fever | MONDO:0019359 | Rocky mountain spotted fever | DOID:0050052 | MeSH ID:D012373 +BMGC_DS02214,BMG_DS002855,Rodent Diseases | MeSH ID:D012376 | UMLS ID:C0035801 | rodent disease | MONDO:0024981 +BMGC_DS02215,BMG_DS002856,Root Resorption | MeSH ID:D012391 | UMLS ID:C0035851 | DOID:14550 | root resorption | MONDO:0001997 +BMGC_DS02216,BMG_DS002857,SNOMEDCT ID:267849001 | OMIM ID:MTHU064119 | (Acne roscea) or (acne rosacea) or (rhinophyma) or (rosacea) | (Acne roscea) or (acne rosacea) or (rhinophyma) or (rosacea) (disorder) | Rosacea | Rosacea (disorder) | UMLS ID:C0035854 | MONDO:0006604 | SNOMEDCT ID:156364003 | SNOMEDCT ID:1612004 | DOID:8881 | Acne erythematosa | ICD10 ID:L71 | Acne roscea | MeSH ID:D012393 | SNOMEDCT ID:398909004 | rosacea | SNOMEDCT ID:200930009 | Acne rosacea | Acne rosacea (disorder) | Rhinophyma +BMGC_DS02217,BMG_DS002858,Rotavirus infection | MeSH ID:D012400 | Rotavirus Infections | MONDO:0005194 | UMLS ID:C0035869 +BMGC_DS02218,BMG_DS002859,MeSH ID:D012409 | DOID:8781 | Rubella | Roseola | MONDO:0004656 | German measles | UMLS ID:C0035920 | SNOMEDCT ID:36653000 | rubella | (Rubella [& German measles]) or (Roseola) (disorder) | SNOMEDCT ID:154343004 | SNOMEDCT ID:266192003 | Rubella (disorder) | (Rubella [& German measles]) or (Roseola) +BMGC_DS02219,BMG_DS002861,Rubinstein-Taybi syndrome | UMLS ID:C0035934 | Rubinstein-Taybi Syndrome | MONDO:0019188 | DOID:1933 | MeSH ID:D012415 +BMGC_DS02220,BMG_DS002862,asphyxiating thoracic dystrophy 3 | MONDO:0013127 | UMLS ID:C0036069 | Saldino-Noonan Syndrome | Short Rib-Polydactyly Syndrome | MeSH ID:D012779 | OMIM ID:613091 +BMGC_DS02221,BMG_DS002864,Sialolith | Stone of salivary gland | MONDO:0006970 | SNOMEDCT ID:155656006 | Salivary calculus | Sialolithiasis | Calculus of salivary gland | SNOMEDCT ID:28826002 | ICD11 ID:DA04.4 | sialolithiasis | MeSH ID:D015494 | ICD10 ID:K11.5 | DOID:12905 | UMLS ID:C0036091 | Salivary stone | Salivary Gland Calculi | Sialolithiasis (disorder) +BMGC_DS02222,BMG_DS002865,UMLS ID:C0036093 | MeSH ID:D012466 | Salivary Gland Diseases +BMGC_DS02223,BMG_DS002866,UMLS ID:C0036095 | MONDO:0021357 | tumor of salivary gland +BMGC_DS02224,BMG_DS002867,SNOMEDCT ID:302229004 | Salmonella gastroenteritis (disorder) | Salmonellosis | UMLS ID:C0036114 | Salmonellosis (& [gastroenteritis] or [food poisoning]) (disorder) | Salmonella food poisoning (disorder) | MONDO:0005950 | Enteric paratyphosis | SNOMEDCT ID:186094005 | Salmonellosis (& [gastroenteritis] or [food poisoning]) | Salmonella food poisoning | SNOMEDCT ID:42338000 | Salmonella gastroenteritis +BMGC_DS02225,BMG_DS002868,UMLS ID:C0036117 | MONDO:0000827 | salmonellosis +BMGC_DS02226,BMG_DS002869,"UMLS ID:C0036118 | MONDO:0024982 | salmonella infections, animal | Salmonella Infections, Animal | MeSH ID:D012481" +BMGC_DS02227,BMG_DS002870,Chronic pelvic inflam. dis.NOS | SNOMEDCT ID:266648001 | SNOMEDCT ID:88157006 | Inflammation of fallopian tube | salpingitis | MONDO:0003619 | MeSH ID:D012488 | DOID:5733 | UMLS ID:C0036130 | SNOMEDCT ID:155968004 | Salpingitis | Inflam. dis.- pelvic | Oophoritis | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) (disorder) | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) | Pelvic inflammatory disease | Salpingitis (disorder) +BMGC_DS02228,BMG_DS002871,Tubo-ovarian inflammatory disease | salpingo-oophoritis | MONDO:0001172 | DOID:10972 | Salpingitis and oophoritis | SNOMEDCT ID:46536000 | Salpingo-oophoritis | UMLS ID:C0036133 | Tubo-ovarian inflammatory disease (disorder) | Inflammation of ovary and fallopian tube +BMGC_DS02229,BMG_DS002872,OMIM ID:268800 | UMLS ID:C0036161 | Sandhoff disease | Sandhoff Disease | DOID:3323 | MONDO:0010006 | MeSH ID:D012497 +BMGC_DS02230,BMG_DS002873,Besnier-Boeck-Schaumann syndrome | Darier-Roussy sarcoid | ICD10 ID:D86 | SNOMEDCT ID:154425004 | Boeck's sarcoid | Miliary lupoid of Boeck | Boeck's sarcoidosis | MeSH ID:D012507 | DOID:11335 | OMIM ID:MTHU070178 | Sarcoidosis (disorder) | Sarcoidosis | UMLS ID:C0036202 | SNOMEDCT ID:31541009 | Benign lymphogranulomatosis of Schaumann | Lupus pernio of Besnier | MONDO:0019338 | sarcoidosis +BMGC_DS02231,BMG_DS002874,Skin sarcoidosis | skin sarcoidosis | UMLS ID:C0036203 | MONDO:0006611 | Sarcoidosis of skin | SNOMEDCT ID:55941000 | DOID:13402 | Cutaneous sarcoidosis (disorder) | Cutaneous sarcoidosis +BMGC_DS02232,BMG_DS002876,"MONDO:0001708 | MeSH ID:D017565 | UMLS ID:C0036205 | pulmonary sarcoidosis | Sarcoidosis, Pulmonary | DOID:13406" +BMGC_DS02233,BMG_DS002880,Kaposi's sarcoma | UMLS ID:C0036220 | MONDO:0005055 | DOID:8632 +BMGC_DS02234,BMG_DS002881,UMLS ID:C0036221 | DOID:355 | mast cell sarcoma | MONDO:0019024 | mast-cell sarcoma +BMGC_DS02235,BMG_DS002882,"Sarcocystosis | Sarcocystiosis | Sarcosporidiasis | MONDO:0018903 | UMLS ID:C0036231 | Sarcosporidiosis (disorder) | sarcocystosis | ICD11 ID:1A3Z | SNOMEDCT ID:88905005 | MeSH ID:D012523 | Protozoal intestinal infections, unspecified | Sarcosporidiosis | ICD10 ID:A07.8 | DOID:9640" +BMGC_DS02236,BMG_DS002883,scabies | UMLS ID:C0036262 | MONDO:0004525 | DOID:8295 +BMGC_DS02237,BMG_DS002884,MeSH ID:D012536 | Scalp Dermatoses | UMLS ID:C0036271 | scalp dermatosis | DOID:3136 | MONDO:0006605 +BMGC_DS02238,BMG_DS002886,UMLS ID:C0036285 | DOID:8596 | Scarlet Fever | MONDO:0005952 | scarlet fever | MeSH ID:D012541 +BMGC_DS02239,BMG_DS002887,obsolete incontinentia pigmenti achromians | Schamberg Disease | UMLS ID:C0036305 | Pigmentation Disorders | MeSH ID:D010859 | MONDO:0006562 +BMGC_DS02240,BMG_DS002888,MONDO:0008410 | Scheuermann disease | Scheuermann's disease | Scheuermann Disease | OMIM ID:181440 | MeSH ID:D012544 | UMLS ID:C0036310 | DOID:13300 | Scheuermann's Disease +BMGC_DS02241,BMG_DS002889,SNOMEDCT ID:266222003 | SNOMEDCT ID:154415009 | Schistosomiasis | Infection caused by Schistosoma (disorder) | MONDO:0015254 | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) (disorder) | Filaria | Schistosomosis | Bilharzia | MeSH ID:D012552 | SNOMEDCT ID:10087007 | Tapeworms | Oxyuriasis | Infection by Schistosoma | Haemic distomiasis | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) | Blood fluke infection | schistosomiasis | Hemic distomiasis | Trichinosis | Other helminthiases | UMLS ID:C0036323 | Taenia infestation | Flukes | Schistosomiasis - bilharziasis | Infection caused by Schistosoma | Toxocara | Bilharziasis +BMGC_DS02242,BMG_DS002890, | Schistosomiasis japonica | UMLS ID:C0036329 | MONDO:0044344 | MeSH ID:D012554 | DOID:0050597 | intestinal schistosomiasis | Schistosoma japonicum infectious disease +BMGC_DS02243,BMG_DS002891, | Schistosoma mansoni infectious disease | UMLS ID:C0036330 | MONDO:0044345 | DOID:0050597 | MeSH ID:D012555 | Schistosomiasis mansoni | intestinal schistosomiasis +BMGC_DS02244,BMG_DS002894,MONDO:0005487 | DOID:5418 | UMLS ID:C0036337 | schizoaffective disorder +BMGC_DS02245,BMG_DS002895,UMLS ID:C0036339 | schizoid personality disorder | DOID:10936 | MONDO:0001161 +BMGC_DS02246,BMG_DS002896,OMIM ID:181500 | schizophrenia | MONDO:0005090 | UMLS ID:C0036341 | DOID:5419 +BMGC_DS02247,BMG_DS002897,MONDO:0957430 | UMLS ID:C0036346 | childhood-onset schizophrenia +BMGC_DS02248,BMG_DS002898,paranoid schizophrenia | MONDO:0001484 | DOID:1229 | UMLS ID:C0036349 +BMGC_DS02249,BMG_DS002899,DOID:11328 | schizophreniform disorder | UMLS ID:C0036358 | MONDO:0001265 +BMGC_DS02250,BMG_DS002900,schizotypal personality disorder | UMLS ID:C0036363 | DOID:10646 +BMGC_DS02251,BMG_DS002901,Schwartz-Jampel syndrome | UMLS ID:C0036391 | Osteochondrodysplasias | MeSH ID:D010009 | Schwartz-Jampel Syndrome | MONDO:0009717 +BMGC_DS02252,BMG_DS002903,scimitar syndrome | MONDO:0015987 | Scimitar Syndrome | MeSH ID:D012587 | DOID:4297 | UMLS ID:C0036400 +BMGC_DS02253,BMG_DS002904,scleral disorder | MeSH ID:D015422 | MONDO:0001269 | UMLS ID:C0036412 | scleral disease | DOID:11343 | Scleral Diseases +BMGC_DS02254,BMG_DS002905,MeSH ID:D012592 | DOID:3140 | UMLS ID:C0036413 | MONDO:0006606 | Scleredema Adultorum | scleredema adultorum +BMGC_DS02255,BMG_DS002907,Scleritis and episcleritis | UMLS ID:C0036416 | SNOMEDCT ID:155201000 | ICD10 ID:H15.0 | Scleritis &/or episcleritis | MeSH ID:D015423 | SNOMEDCT ID:78370002 | ICD11 ID:9B51 | Episcleritis | DOID:13452 | MONDO:0001718 | scleritis | Scleritis (disorder) | Inflammation of white of eye | SNOMEDCT ID:194139000 | Scleritis | Scleritis &/or episcleritis (disorder) | Scleritis/episcleritis +BMGC_DS02256,BMG_DS002908,Localised dermatosclerosis | SNOMEDCT ID:201048007 | Addison's keloid | Localized scleroderma (disorder) | Circumscribed scleroderma | Localised morphoea | DOID:8472 | Morphea scleroderma | Localized morphea | SNOMEDCT ID:90424004 | Morphoea scleroderma | Localized dermatosclerosis | Localized morphea (disorder) | Localized scleroderma | MONDO:0019562 | localized scleroderma | Localised scleroderma | UMLS ID:C0036420 +BMGC_DS02257,BMG_DS002909,"systemic scleroderma | UMLS ID:C0036421 | Scleroderma, Systemic | Systemic Scleroderma | DOID:418 | MeSH ID:D012595 | systemic sclerosis | MONDO:0005100" +BMGC_DS02258,BMG_DS002910,"DOID:0060249 | MONDO:0005392 | ICD10 ID:M41.9 | UMLS ID:C0036439 | ICD11 ID:FA70.1 | scoliosis | Scoliosis | Scoliosis, unspecified" +BMGC_DS02259,BMG_DS002911,scotoma | UMLS ID:C0036454 | MONDO:0004758 +BMGC_DS02260,BMG_DS002912,Scrapie (disorder) | Scrapie | MeSH ID:D012608 | UMLS ID:C0036457 | DOID:5434 | scrapie | SNOMEDCT ID:35103004 | MONDO:0006961 +BMGC_DS02261,BMG_DS002913,MeSH ID:D012610 | Screw Worm Infection | UMLS ID:C0036465 | MONDO:0005954 | DOID:12927 | screw worm infectious disease +BMGC_DS02262,BMG_DS002915,Scrub Typhus | MONDO:0019365 | DOID:13371 | MeSH ID:D012612 | scrub typhus | UMLS ID:C0036472 +BMGC_DS02263,BMG_DS002916,SNOMEDCT ID:76169001 | Scurvy (disorder) | (Ascorbic acid (vitamin C) deficiency) or (scurvy) | Scurvy | SNOMEDCT ID:267493006 | ICD10 ID:E54 | Ascorbic acid deficiency | SNOMEDCT ID:190638001 | Ascorbic acid deficiency (& [scurvy]) (disorder) | OMIM ID:240400 | (Ascorbic acid (vitamin C) deficiency) or (scurvy) (disorder) | DOID:13724 | Ascorbic acid deficiency (& [scurvy]) | SNOMEDCT ID:238129003 | scurvy | UMLS ID:C0036474 | Vitamin C deficiency | SNOMEDCT ID:154727008 | Ascorbic acid (vitamin C) deficiency | Ascorbic acid defic. | Ascorbic acid deficiency (disorder) | MONDO:0009412 | MeSH ID:D012614 | Deficiency of ascorbic acid +BMGC_DS02264,BMG_DS002917,MONDO:0010017 | DOID:4423 | sea-blue histiocyte syndrome | UMLS ID:C0036489 | sea-blue histiocytosis | Sea-Blue Histiocyte Syndrome | OMIM ID:269600 | MeSH ID:D012618 +BMGC_DS02265,BMG_DS002918,Motion sickness | ICD11 ID:NF08.3 | UMLS ID:C0036494 | Motion Sickness | MeSH ID:D009041 | Seasickness | ICD10 ID:T75.3 +BMGC_DS02266,BMG_DS002919,sebaceous gland disorder | Sebaceous Gland Diseases | UMLS ID:C0036502 | MeSH ID:D012625 | MONDO:0006607 +BMGC_DS02267,BMG_DS002920,sebaceous gland neoplasm | DOID:5759 | UMLS ID:C0036503 | MONDO:0006963 +BMGC_DS02268,BMG_DS002921,seborrheic dermatitis | Seborrhoeic dermatitis capitis | Seborrhoeic dermatitis (disorder) | UMLS ID:C0036508 | Seborrheic dermatitis (disorder) | SNOMEDCT ID:200764003 | Seborrheic dermatitis | Seborrheic eczema | Seborrhoeic eczema | SNOMEDCT ID:156328004 | SBD - Seborrheic dermatitis | Seborrhoeic dermatitis (& capitis) (disorder) | DOID:8741 | OMIM ID:MTHU011118 | Seborrheic dermatitis capitis | SBD - Seborrhoeic dermatitis | Seborrhoeic dermatitis | SNOMEDCT ID:50563003 | Seborrhoeic dermatitis (& capitis) | Seborrheic dermatitis (& capitis) | ICD10 ID:L21 | MONDO:0006608 +BMGC_DS02269,BMG_DS002922,"Myocardial Diseases, Secondary | Cardiomyopathies | DOID:0050700 | MeSH ID:D009202 | UMLS ID:C0036529 | cardiomyopathy" +BMGC_DS02270,BMG_DS002923,MONDO:0003001 | UMLS ID:C0036631 | testis seminoma | DOID:5842;DOID:4440 | seminoma +BMGC_DS02271,BMG_DS002924,MONDO:0004847 | UMLS ID:C0036646 | senile cataract | DOID:9669 +BMGC_DS02272,BMG_DS002926,MeSH ID:D012678 | UMLS ID:C0036659 | Sensation Disorders +BMGC_DS02273,BMG_DS002930,Septicaemia | Septicemia | Septicemia (disorder) | MeSH ID:D018805 | SNOMEDCT ID:154313001 | Sepsis | SNOMEDCT ID:105592009 | Septicaemia (disorder) | UMLS ID:C0036690 | OMIM ID:MTHU043659 +BMGC_DS02274,BMG_DS002932,MONDO:0002696 | UMLS ID:C0036769 | Sertoli cell tumor | DOID:3577 +BMGC_DS02275,BMG_DS002933,UMLS ID:C0036830 | MONDO:0043789 | serum sickness | MeSH ID:D012713 | Serum Sickness +BMGC_DS02276,BMG_DS002934,setariasis | MeSH ID:D012719 | Setariasis | UMLS ID:C0036850 | DOID:1079 | MONDO:0005957 +BMGC_DS02277,BMG_DS002935,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,MONDO:0017844 | Sezary's disease | DOID:8541 | Sezary syndrome | UMLS ID:C0036920 +BMGC_DS02280,BMG_DS002945,MONDO:0800175 | cardiogenic shock | UMLS ID:C0036980 +BMGC_DS02281,BMG_DS002946,DOID:10605 | MONDO:0015183 | Short Bowel Syndrome | UMLS ID:C0036992 | MeSH ID:D012778 | short bowel syndrome +BMGC_DS02282,BMG_DS002947,MONDO:0015461 | Short Rib-Polydactyly Syndrome | short rib-polydactyly syndrome | MeSH ID:D012779 | UMLS ID:C0036996 +BMGC_DS02283,BMG_DS002948,Shwartzman phenomenon | MONDO:0002783 | Shwartzman Phenomenon | DOID:3825 | UMLS ID:C0037018 | MeSH ID:D012790 +BMGC_DS02284,BMG_DS002949,DOID:4752 | UMLS ID:C0037019 | Shy-Drager Syndrome | MeSH ID:D012791 | multiple system atrophy +BMGC_DS02285,BMG_DS002950,Sialadenitis | MeSH ID:D012793 | UMLS ID:C0037023 | sialadenitis | Sialoadenitis | Sialoadenitis (disorder) | SNOMEDCT ID:42982001 | DOID:10303 | MONDO:0006969 +BMGC_DS02286,BMG_DS002951,"necrotizing sialometaplasia | Sialometaplasia, Necrotizing | UMLS ID:C0037033 | DOID:12901 | MONDO:0006864 | MeSH ID:D012797" +BMGC_DS02287,BMG_DS002952,Excessive salivation | MeSH ID:D012798 | OMIM ID:MTHU014490 | Sialosis | Sialorrhoea | Polysialia | SNOMEDCT ID:53827007 | Ptyalorrhoea | Hyperactive salivary flow | Hypersalivation | Hypersecretion of saliva | Hypersecretion of salivary gland | Sialism | UMLS ID:C0037036 | Salivary hypersecretion | Sialismus | Sialorrhea | Excessive salivation (disorder) | Ptyalorrhea +BMGC_DS02288,BMG_DS002953,MONDO:0005959 | Sick Building Syndrome | MeSH ID:D018877 | DOID:2710 | sick building syndrome | UMLS ID:C0037050 +BMGC_DS02289,BMG_DS002954,Sick Sinus Syndrome | MeSH ID:D012804 | sick sinus syndrome | DOID:13884 | MONDO:0001823 | UMLS ID:C0037052 +BMGC_DS02290,BMG_DS002955,Sickle Cell Trait | UMLS ID:C0037054 | MeSH ID:D012805 +BMGC_DS02291,BMG_DS002956,Arc-welders' lung | SNOMEDCT ID:155591007 | MeSH ID:D012806 | Arc-welders' disease | Arc-welders' pneumoconiosis | Welders' siderosis | Siderotic lung disease | Pneumoconiosis NOS | SNOMEDCT ID:62371005 | (Pneumoconiosis NOS) or (siderosis) | Pneumoconiosis siderotico | Pulmonary siderosis (disorder) | Silver polishers' lung | Iron pneumoconiosis | Arc-welders' nodulation | ICD10 ID:J63.4 | DOID:10328 | UMLS ID:C0037061 | Siderosis | SNOMEDCT ID:266401007 | Pulmonary siderosis | (Pneumoconiosis NOS) or (siderosis) (disorder) | Iron oxide lung | Welders' lung | siderosis | ICD11 ID:CA60.8 | Steel grinders' disease +BMGC_DS02292,BMG_DS002957,DOID:1897 | sigmoid disease | MeSH ID:D012810 | MONDO:0002139 | UMLS ID:C0037072 | Sigmoid Diseases +BMGC_DS02293,BMG_DS002958,MONDO:0006971 | UMLS ID:C0037073 | sigmoid neoplasm | DOID:1896 +BMGC_DS02294,BMG_DS002960,UMLS ID:C0037116 | Silicosis (disorder) | Nodular silicosis | MONDO:0005960 | MeSH ID:D012829 | DOID:10325 | Silicatosis | silicosis | Pneumoconiosis caused by silica (disorder) | Silicosis | SNOMEDCT ID:155590008 | SNOMEDCT ID:805002 | Pneumoconiosis caused by silica +BMGC_DS02295,BMG_DS002962,silo filler disease | DOID:4374 | MeSH ID:D012832 | UMLS ID:C0037120 | MONDO:0006972 | Silo Filler's Disease | Silo filler's disease +BMGC_DS02296,BMG_DS002963,UMLS ID:C0037140 | Herpesviridae infectious disease | B Virus Infection | MONDO:0005794 | Herpesviridae Infections | MeSH ID:D006566 +BMGC_DS02297,BMG_DS002965,"Genetic Diseases, Inborn | MeSH ID:D030342 | Single-Gene Defects | UMLS ID:C0037176" +BMGC_DS02298,BMG_DS002966,MeSH ID:D012848 | sinoatrial block | Sinoatrial Block | UMLS ID:C0037188 | MONDO:0020806 +BMGC_DS02299,BMG_DS002967,"MeSH ID:D012851 | UMLS ID:C0037198 | Sinus Thrombosis, Intracranial | intracranial sinus thrombosis | DOID:3572 | MONDO:0002692" +BMGC_DS02300,BMG_DS002968,Acute sinusitis | MeSH ID:D012852 | Sinusitis (& acute) | sinusitis | OMIM ID:MTHU006260 | SNOMEDCT ID:275483004 | SNOMEDCT ID:36971009 | Sinusitis (disorder) | MONDO:0005961 | SNOMEDCT ID:195649005 | UMLS ID:C0037199 | Sinusitis (& acute) (disorder) | Sinusitis +BMGC_DS02301,BMG_DS002969,UMLS ID:C0037205 | MONDO:0017850 | sirenomelia +BMGC_DS02302,BMG_DS002970,UMLS ID:C0037221 | DOID:758 | situs inversus +BMGC_DS02303,BMG_DS002971,DOID:14501 | OMIM ID:270200 | UMLS ID:C0037231 | Sjogren-Larsson syndrome | MeSH ID:D016111 | MONDO:0010031 | Sjogren-Larsson Syndrome +BMGC_DS02304,BMG_DS002973,UMLS ID:C0037274 | DOID:37 | MONDO:0005093 | skin disorder | skin disease +BMGC_DS02305,BMG_DS002974,"DOID:2731 | Skin Diseases, Vesiculobullous | MeSH ID:D012872 | MONDO:0006617 | UMLS ID:C0037275 | vesiculobullous skin disease" +BMGC_DS02306,BMG_DS002975," | MeSH ID:D012873 | MONDO:0100118 | DOID:37 | hereditary skin disorder | UMLS ID:C0037277 | Skin Diseases, Genetic | skin disease" +BMGC_DS02307,BMG_DS002976,"Skin Diseases, Infectious | skin infection | skin disorder caused by infection | MeSH ID:D012874 | MONDO:0024294;MONDO:0021201 | UMLS ID:C0037278" +BMGC_DS02308,BMG_DS002980,UMLS ID:C0037286 | MONDO:0002531 | DOID:3165 | skin neoplasm | skin benign neoplasm +BMGC_DS02309,BMG_DS002981,DOID:6873 | UMLS ID:C0037293 | skin tag | MONDO:0004026 +BMGC_DS02310,BMG_DS002982,UMLS ID:C0037299 | Skin Ulcer | MeSH ID:D012883 +BMGC_DS02311,BMG_DS002983,DOID:1863 | MONDO:0024653 | UMLS ID:C0037305 | skull cancer | skull neoplasm +BMGC_DS02312,BMG_DS002984,sleep apnea | sleep apnea syndrome | MeSH ID:D012891 | MONDO:0005296 | UMLS ID:C0037315 | Sleep Apnea Syndromes | DOID:0050847 +BMGC_DS02313,BMG_DS002986,MeSH ID:D012899 | Pseudocowpox | MONDO:0004651 | smallpox | SNOMEDCT ID:266193008 | Orf | Milkers' node | Smallpox (disorder) | Variola major | Variola | Smallpox | UMLS ID:C0037354 | SNOMEDCT ID:154344005 | Milker's node | Roseola infantum | Other viral exanthemata | Cowpox | ICD10 ID:B03 | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder) | Fifth disease | DOID:8736 | SNOMEDCT ID:67924001 | (Viral exanthemata [& variants]) or (orf) or (milkers node) | Parascarlatina | Fourth disease +BMGC_DS02314,BMG_DS002990,UMLS ID:C0037579 | connective tissue benign neoplasm | MONDO:0006424 | soft tissue neoplasm | DOID:0060123 +BMGC_DS02315,BMG_DS002992,UMLS ID:C0037619 | MONDO:0001009 | solitary cyst of breast | DOID:10349 +BMGC_DS02316,BMG_DS002993,DOID:4737 | somatoform disorder | MONDO:0003117 | UMLS ID:C0037650 +BMGC_DS02317,BMG_DS002994,DOID:4430 | MONDO:0006976 | UMLS ID:C0037661 | somatostatinoma +BMGC_DS02318,BMG_DS002995,SNOMEDCT ID:80495009 | SNOMEDCT ID:154927001 | Sleep walking | Sleep disorders | Insomnia | Sleepwalking | Somnambulism | UMLS ID:C0037672 | Nightmares | Walking in sleep | Sleep walking disorder | Sleep walking disorder (disorder) | Sleep disorders (& [insomnia] or [nightmares] or [sleepwalking (& somnambulism)]) | Sleep disorders (& [insomnia] or [nightmares] or [sleepwalking (& somnambulism)]) (disorder) | SNOMEDCT ID:268775007 | Sleepwalking disorder | MeSH ID:D013009 +BMGC_DS02319,BMG_DS002996,SNOMEDCT ID:31659000 | Infection caused by Spirometra larvae (disorder) | Sparganosis (disorder) | ICD10 ID:B70.1 | DOID:10080 | Infection caused by Spirometra larvae | Infection by Spirometra larvae | Larval diphyllobothriasis | MONDO:0005963 | Larval dibothriocephaliasis | MeSH ID:D013031 | sparganosis | Sparganosis | Sparganosis - larval diphyllobothriasis | Spirometriosis | SNOMEDCT ID:187152002 | UMLS ID:C0037753 | ICD11 ID:1F75 | Spirometrosis +BMGC_DS02320,BMG_DS002997,MeSH ID:D013746 | Tetany | Spasmophilia | UMLS ID:C0037768 +BMGC_DS02321,BMG_DS002998,"DOID:0050562 | UMLS ID:C0037769 | MeSH ID:D013036 | MONDO:0018097 | Spasms, Infantile | West syndrome | West Syndrome" +BMGC_DS02322,BMG_DS002999,UMLS ID:C0037772 | Spastic Paraplegia | MeSH ID:D010264 | Paraplegia +BMGC_DS02323,BMG_DS003000,"MeSH ID:D015419 | DOID:2476 | UMLS ID:C0037773 | MONDO:0019064 | hereditary spastic paraplegia | Spastic Paraplegia, Hereditary" +BMGC_DS02324,BMG_DS003002,UMLS ID:C0037822 | MeSH ID:D013064 | Speech Disorders | MONDO:0004730 | speech disorder | DOID:92 +BMGC_DS02325,BMG_DS003003,spermatic cord torsion | MONDO:0008541 | DOID:11996 | Spermatic Cord Torsion | OMIM ID:187400 | UMLS ID:C0037856 | MeSH ID:D013086 +BMGC_DS02326,BMG_DS003004,spermatocele | MeSH ID:D013088 | SNOMEDCT ID:155936007 | UMLS ID:C0037859 | MONDO:0006977 | DOID:11997 | Spermatocele (disorder) | SNOMEDCT ID:49263001 | Spermatocele | Spermatic cyst +BMGC_DS02327,BMG_DS003005,Sphenoid Sinusitis | UMLS ID:C0037886 | MONDO:0005964 | sphenoid sinusitis | MeSH ID:D015524 | DOID:10794 +BMGC_DS02328,BMG_DS003007,Minkowsky-Chauffard syndrome | MONDO:0019350 | Congenital spherocytic haemolytic anaemia | hereditary spherocytosis | Other specified hereditary haemolytic anaemia | SNOMEDCT ID:154795009 | Hereditary spherocytosis | Congenital spherocytosis | DOID:12971 | SNOMEDCT ID:55995005 | Hereditary spherocytosis (disorder) | HS - Hereditary spherocytosis | Familial spherocytosis | ICD11 ID:3A10.Y | UMLS ID:C0037889 | Familial acholuric jaundice | ICD10 ID:D58.0 | Congenital spherocytic hemolytic anemia +BMGC_DS02329,BMG_DS003008,Sphingolipidoses | sphingolipidosis | UMLS ID:C0037899 | MeSH ID:D013106 | DOID:1927 | MONDO:0019255 +BMGC_DS02330,BMG_DS003009,UMLS ID:C0037917 | spina bifida cystica | MONDO:0017069 +BMGC_DS02331,BMG_DS003011,Spinal cord compression (disorder) | SNOMEDCT ID:71286001 | Compression of spinal cord | Spinal cord compression | SCC - Spinal cord compression | UMLS ID:C0037926 | OMIM ID:MTHU052252 +BMGC_DS02332,BMG_DS003012,spinal cord disorder | UMLS ID:C0037928 | Spinal Cord Diseases | spinal cord disease | MeSH ID:D013118 | DOID:319 | MONDO:0002545 +BMGC_DS02333,BMG_DS003013,MONDO:0021234 | DOID:5612 | UMLS ID:C0037930 | spinal cancer | spinal cord neoplasm +BMGC_DS02334,BMG_DS003014,UMLS ID:C0037933 | MONDO:0000812 | MeSH ID:D013122 | vertebral column disorder | Spinal Diseases +BMGC_DS02335,BMG_DS003015,UMLS ID:C0037939 | spinal cancer | DOID:5612 +BMGC_DS02336,BMG_DS003018,UMLS ID:C0037952 | Spinocerebellar Degenerations | Spinocerebellar Degeneration | MeSH ID:D013132 +BMGC_DS02337,BMG_DS003020,splenic disease | MONDO:0002332 | DOID:2529 | UMLS ID:C0037997 | MeSH ID:D013158 | splenic disorder | Splenic Diseases +BMGC_DS02338,BMG_DS003021,UMLS ID:C0037998 | MeSH ID:D013159 | Splenic Infarction | splenic infarction | DOID:2533 | MONDO:0006978 +BMGC_DS02339,BMG_DS003022,DOID:672 | spleen neoplasm | UMLS ID:C0037999 | spleen cancer | MONDO:0036696 +BMGC_DS02340,BMG_DS003023,UMLS ID:C0038012 | MeSH ID:D013166 | Spondylitis | MONDO:0003937 | SNOMEDCT ID:84172003 | Spondarthritis | Spondylitis (disorder) | spondylitis +BMGC_DS02341,BMG_DS003024,UMLS ID:C0038013 | ankylosing spondylitis | Marie Strümpell spondylitis | MONDO:0005306 | DOID:7147 | SNOMEDCT ID:156619005 | Idiopathic ankylosing spondylitis | Ankylosing spondylitis | Ankylosing spondylitis (disorder) | AS - Ankylosing spondylitis | OMIM ID:MTHU036410 | ICD10 ID:M45 | Spondylosis deformans | SNOMEDCT ID:9631008 | Bekhterev's disease | Marie-Strumpell spondylitis +BMGC_DS02342,BMG_DS003025,Osteochondrodysplasias | Spondyloepiphyseal Dysplasia | MeSH ID:D010009 | UMLS ID:C0038015 | MONDO:0016761 | spondyloepiphyseal dysplasia +BMGC_DS02343,BMG_DS003026,"SPL - Spondylolisthesis | Bifida, spina - occulta | Spina bifida occulta | ICD11 ID:FA84.Z | spondylolisthesis | SNOMEDCT ID:157003009 | Spondylolisthesis, unspecified | MeSH ID:D013168 | Spondylolisthesis | ICD10 ID:M43.1 | Occulta - spina bifida | OMIM ID:184200 | MONDO:0008475 | Hemivertebra | DOID:6682 | UMLS ID:C0038016 | (Spine anomaly - congenital) or (hemivertebra) or (Klippel-Feil syndrome) or (spina bifida occulta) or (spondylolisthesis) (disorder) | SNOMEDCT ID:274152003 | SNOMEDCT ID:268349005 | Spondylolisthesis (disorder) | Klippel-Feil syndrome | Spine anomaly - congenital | OMIM ID:MTHU009825 | (Spine anomaly - congenital) or (hemivertebra) or (Klippel-Feil syndrome) or (spina bifida occulta) or (spondylolisthesis)" +BMGC_DS02344,BMG_DS003027,"ICD11 ID:FA81.Z | OMIM ID:MTHU036588 | spondylolysis | MeSH ID:D013169 | ICD10 ID:M43.0 | MONDO:0005541 | Spondylolysis | SNOMEDCT ID:203688008 | SNOMEDCT ID:240221008 | UMLS ID:C0038018 | Spondylolysis, unspecified | Spondylolysis (disorder) | DOID:2300" +BMGC_DS02345,BMG_DS003028,Spondylosis (disorder) | SNOMEDCT ID:8847002 | Spondylosis | OMIM ID:MTHU049981 | MONDO:0002253 | Spondylarthrosis | spondylosis | UMLS ID:C0038019 | MeSH ID:D055009 | Spondarthropathy | DOID:2247 | ICD10 ID:M47 +BMGC_DS02346,BMG_DS003029,Spondylosis Deformans | Spondylosis | UMLS ID:C0038020 | MeSH ID:D055009 +BMGC_DS02347,BMG_DS003031,MeSH ID:D000073605 | Spotted Fever Group Rickettsiosis | UMLS ID:C0038041 | spotted fever | DOID:11104 +BMGC_DS02348,BMG_DS003032,"UMLS ID:C0038054 | Sprue, Tropical | DOID:10607 | tropical sprue | MeSH ID:D013182 | MONDO:0001078" +BMGC_DS02349,BMG_DS003033,stuttering | UMLS ID:C0038131 | DOID:0060243 | MONDO:0000723 | stutter disorder +BMGC_DS02350,BMG_DS003034,Staphylococcal enterocolitis | UMLS ID:C0038157 | SNOMEDCT ID:32527003 | Staphylococcal enterocolitis (disorder) +BMGC_DS02351,BMG_DS003036,Staphylococcal Infections | UMLS ID:C0038160 | staphylococcal infection | MONDO:0024313 | MeSH ID:D013203 +BMGC_DS02352,BMG_DS003038,Staphylococcal Skin Infections | UMLS ID:C0038166 | MeSH ID:D013207 +BMGC_DS02353,BMG_DS003039,UMLS ID:C0038218 | DOID:9362 | status asthmaticus | Status Asthmaticus | MeSH ID:D013224 | MONDO:0004766 +BMGC_DS02354,BMG_DS003040,MeSH ID:D013226 | UMLS ID:C0038220 | status epilepticus | MONDO:0002125 | DOID:1824 | Status Epilepticus +BMGC_DS02355,BMG_DS003042,UMLS ID:C0038238 | steatorrhea | MONDO:0001075 +BMGC_DS02356,BMG_DS003044,MONDO:0002265 | UMLS ID:C0038273 | stereotypic movement disorder | DOID:2303 +BMGC_DS02357,BMG_DS003045,Stevens-Johnson Syndrome | UMLS ID:C0038325 | DOID:0050426 | MeSH ID:D013262 | MONDO:0018229 | Stevens-Johnson syndrome | OMIM ID:608579 +BMGC_DS02358,BMG_DS003046,gastric dilatation | Gastric Dilatation | DOID:3229 | UMLS ID:C0038353 | MONDO:0002569 | MeSH ID:D013271 +BMGC_DS02359,BMG_DS003047,UMLS ID:C0038354 | MONDO:0004298 | Stomach Diseases | stomach disease | DOID:76 | stomach disorder | MeSH ID:D013272 +BMGC_DS02360,BMG_DS003048,UMLS ID:C0038356 | DOID:10534 | gastric neoplasm | MONDO:0021085 | stomach cancer +BMGC_DS02361,BMG_DS003050,Gastric ulcer (& [prepyloric] or [pyloric]) | GU - Gastric ulcer | SNOMEDCT ID:6034002 | SNOMEDCT ID:155681009 | Gastric ulceration | Gastric ulcer (disorder) | Gastric ulcer - (GU) | Stomach ulcer | DOID:10808 | UMLS ID:C0038358 | Peptic ulcer of stomach | gastric ulcer | ICD10 ID:K25 | SNOMEDCT ID:196627009 | GU - Gastric peptic ulcer | Gastric peptic ulcer | SNOMEDCT ID:397825006 | Pyloric ulcer | Prepyloric ulcer | Gastric ulcer | MONDO:0001126 | Gastric ulcer (& [prepyloric] or [pyloric]) (disorder) +BMGC_DS02362,BMG_DS003052,DOID:9637 | SNOMEDCT ID:61170000 | UMLS ID:C0038362 | Mucositis | MONDO:0004842 | OMIM ID:MTHU008854 | Mucitis | Mucosal inflammation | Inflammatory disease of mucous membrane | Inflammatory condition of oral mucous membrane | Inflammation of mouth | Stomatitis | SNOMEDCT ID:95361005 | MeSH ID:D013280 | Inflammatory disease of mucous membrane (disorder) | Stomatitis (disorder) | stomatitis | Mucous membrane inflammation +BMGC_DS02363,BMG_DS003053,"Aphthous Stomatitis | Stomatitis, Aphthous | MONDO:0004845 | DOID:9663 | UMLS ID:C0038363 | aphthous stomatitis | MeSH ID:D013281" +BMGC_DS02364,BMG_DS003054,"Stomatitis, Denture | MONDO:0006723 | denture stomatitis | UMLS ID:C0038364 | MeSH ID:D013282 | DOID:11875" +BMGC_DS02365,BMG_DS003056,"ICD10 ID:K12.1 | MONDO:0004848 | Ulcerative stomatitis (disorder) | DOID:9673 | SNOMEDCT ID:450005 | UMLS ID:C0038367 | Ulcerative stomatitis | Disorder of oral mucosa, unspecified | ICD11 ID:DA01.Z | OMIM ID:MTHU007446 | ulcerative stomatitis" +BMGC_DS02366,BMG_DS003057,UMLS ID:C0038368 | Stomatognathic Diseases | MeSH ID:D009057 +BMGC_DS02367,BMG_DS003058,Disorder of binocular eye movements | MeSH ID:D013285 | OMIM ID:MTHU000389 | UMLS ID:C0038379 | Strabismus | SNOMEDCT ID:22066006 | Strabismus (disorder) | Ocular dissociation | Squint | MONDO:0003432 | strabismus +BMGC_DS02368,BMG_DS003059,MONDO:0021680 | streptococcal infection | MeSH ID:D013290 | Streptococcal Infections | UMLS ID:C0038395 +BMGC_DS02369,BMG_DS003060,MONDO:0005146 | post-traumatic stress disorder | DOID:2055 | UMLS ID:C0038436 +BMGC_DS02370,BMG_DS003061,MONDO:0004160 | Female urinary stress incontinence | Female urinary stress incontinence (finding) | DOID:724 | SNOMEDCT ID:60241006 | Female stress incontinence | UMLS ID:C0038437 | female stress incontinence +BMGC_DS02371,BMG_DS003062,UMLS ID:C0038454 | (Cerebral infarct) or (cerebrovascular accident) or (undefined stroke/CVA) or (stroke NOS) (disorder) | SNOMEDCT ID:155405006 | stroke disorder | SNOMEDCT ID:82797006 | SNOMEDCT ID:230690007 | Cerebrovascular accident | SNOMEDCT ID:266312006 | Cerebrovascular: [disease] or [accident] | Cerebral infarct | (Cerebral infarct) or (cerebrovascular accident) or (undefined stroke/CVA) or (stroke NOS) | CVA - Cerebrovascular accident | Stroke | Stroke/CVA - undefined | MONDO:0005098 | OMIM ID:MTHU012420 | Cerebrovascular accident (disorder) | SNOMEDCT ID:155388006 | Stroke NOS | Cerebrovascular: [disease] or [accident] (disorder) | SNOMEDCT ID:266315008 | Accident - cerebrovascular | Cerebrovascular disease +BMGC_DS02372,BMG_DS003063,"Stromal Dystrophies, Corneal | MONDO:0020213 | Corneal Dystrophies, Hereditary | MeSH ID:D003317 | stromal corneal dystrophy | UMLS ID:C0038457" +BMGC_DS02373,BMG_DS003064,"MONDO:0025263 | strongyle infections, equine | UMLS ID:C0038459 | MeSH ID:D013319 | Strongyle Infections, Equine" +BMGC_DS02374,BMG_DS003065,strongyloidiasis | Infection caused by Strongyloides | MeSH ID:D013322 | DOID:10955 | UMLS ID:C0038463 | ICD10 ID:B78 | Strongyloidiasis | Infection by Strongyloides | MONDO:0005974 | SNOMEDCT ID:1214006 | Strongyloidosis | Infection caused by Strongyloides (disorder) +BMGC_DS02375,BMG_DS003067,MONDO:0008501 | MeSH ID:D013341 | UMLS ID:C0038505 | Sturge-Weber syndrome | OMIM ID:185300 | DOID:0111563 | Sturge-Weber Syndrome +BMGC_DS02376,BMG_DS003068,stuttering | UMLS ID:C0038506 | DOID:0060243 +BMGC_DS02377,BMG_DS003069,OMIM ID:260470 | subacute sclerosing panencephalitis | Subacute Sclerosing Panencephalitis | UMLS ID:C0038522 | MONDO:0009835 | MeSH ID:D013344 | DOID:8970 +BMGC_DS02378,BMG_DS003070,MeSH ID:D013345 | UMLS ID:C0038525 | subarachnoid hemorrhage | MONDO:0005099 | Subarachnoid Hemorrhage +BMGC_DS02379,BMG_DS003071,MeSH ID:D013349 | MONDO:0006983 | Subclavian Steal Syndrome | UMLS ID:C0038531 | DOID:13002 | subclavian steal syndrome +BMGC_DS02380,BMG_DS003072,"UMLS ID:C0038539 | Empyema, Subdural | MeSH ID:D013354 | MONDO:0006984 | subdural empyema | DOID:11389" +BMGC_DS02381,BMG_DS003074,Submandibular Gland Diseases | MONDO:0001597 | submandibular gland disease | submandibular gland disorder | DOID:12897 | UMLS ID:C0038557 | MeSH ID:D013364 +BMGC_DS02382,BMG_DS003081,Sudden infant death syndrome (finding) | Unexpected sudden death of infant | Crib death | SIDS - sudden infant death syndrome | UMLS ID:C0038644 | SNOMEDCT ID:51178009 | DOID:9007 | sudden infant death syndrome | Sudden infant death syndrome | Cot death +BMGC_DS02383,BMG_DS003082,UMLS ID:C0038732 | Sulfhemoglobinemia (disorder) | MONDO:0006988 | Sulphaemoglobinaemia | Sulfhemoglobinemia | sulfhemoglobinemia | SNOMEDCT ID:32117000 | DOID:12451 | MeSH ID:D013436 +BMGC_DS02384,BMG_DS003084,Superimposed infection | SNOMEDCT ID:192337008 | SNOMEDCT ID:48657006 | MeSH ID:D015163 | Superinfection (disorder) | Superinfection | UMLS ID:C0038826 | Superimposed infection (disorder) +BMGC_DS02385,BMG_DS003085,MONDO:0002687 | DOID:3557 | Superior Mesenteric Artery Syndrome | MeSH ID:D013478 | superior mesenteric artery syndrome | UMLS ID:C0038828 +BMGC_DS02386,BMG_DS003086,Superior Vena Cava Syndrome | UMLS ID:C0038833 | superior vena cava syndrome | MONDO:0043287 | MeSH ID:D013479 +BMGC_DS02387,BMG_DS003087,Superior Vena Cava Syndrome | Superior Vena Cava Thrombosis | UMLS ID:C0038834 | MeSH ID:D013479 +BMGC_DS02388,BMG_DS003088,UMLS ID:C0038868 | Progressive supranuclear palsy (disorder) | PSP - progressive supranuclear palsy | ICD11 ID:8A00.10 | SNOMEDCT ID:192976002 | SNOMEDCT ID:192975003 | Progressive supranuclear palsy | ICD10 ID:G23.1 | Progressive supranuclear ophthalmoplegia | Progressive supranuclear ophthalmoplegia (disorder) | DOID:678 | progressive supranuclear palsy | MONDO:0019037 | Nuchal dystonia-dementia syndrome | SNOMEDCT ID:28978003 +BMGC_DS02389,BMG_DS003089,"MeSH ID:D009437 | UMLS ID:C0038870 | Neuralgia | Neuralgia, Supraorbital" +BMGC_DS02390,BMG_DS003090,supratentorial cancer | DOID:1659 | UMLS ID:C0038874 +BMGC_DS02391,BMG_DS003091,DOID:5112 | copper deficiency myelopathy | UMLS ID:C0038981 +BMGC_DS02392,BMG_DS003092,UMLS ID:C0038986 | DOID:1383 | sweat gland disease | Sweat Gland Diseases | MeSH ID:D013543 +BMGC_DS02393,BMG_DS003093,sweat gland benign neoplasm | sweat gland neoplasm | UMLS ID:C0038987 | DOID:2664 | MONDO:0002381 +BMGC_DS02394,BMG_DS003095,"MeSH ID:D013547 | Sweating, Gustatory | MONDO:0007753 | OMIM ID:144100 | UMLS ID:C0038994 | Frey syndrome | DOID:11599" +BMGC_DS02395,BMG_DS003096,swine disease | Swine Diseases | UMLS ID:C0039006 | MONDO:0024990 | MeSH ID:D013553 +BMGC_DS02396,BMG_DS003099,Sycosis | Sycosis (disorder) | UMLS ID:C0039023 | Folliculitis | MeSH ID:D005499 | SNOMEDCT ID:253005 +BMGC_DS02397,BMG_DS003100,DOID:11193 | syndactyly | UMLS ID:C0039075 | MONDO:0021002 +BMGC_DS02398,BMG_DS003101,UMLS ID:C0039082 | Disorder | Disease (disorder) | Disease | Disorders | SNOMEDCT ID:64572001 | Syndrome | DOID:225 | syndromic disease | syndrome | Diseases | MeSH ID:D013577 | Clinical disease AND/OR syndrome | MONDO:0002254 +BMGC_DS02399,BMG_DS003103,DOID:11971 | MONDO:0001411 | synostosis | UMLS ID:C0039093 +BMGC_DS02400,BMG_DS003104,MONDO:0010434 | UMLS ID:C0039101 | OMIM ID:300813 | synovial sarcoma | DOID:5485 +BMGC_DS02401,BMG_DS003105,Synovitis/tenosynovitis | Synovitis &/or tenosynovitis (disorder) | Tenosynovitis | SNOMEDCT ID:268092005 | SNOMEDCT ID:416209007 | Undifferentiated inflammatory arthritis | Synovitis | SNOMEDCT ID:156666009 | MeSH ID:D013585 | Synovitis (disorder) | Synovitis &/or tenosynovitis | synovitis | UMLS ID:C0039103 | MONDO:0002400 | SNOMEDCT ID:14107000 | DOID:2703 +BMGC_DS02402,BMG_DS003107,"DOID:2702 | MONDO:0024686 | pigmented villonodular synovitis | UMLS ID:C0039106 | tenosynovial giant cell tumor, diffuse type" +BMGC_DS02403,BMG_DS003109,MeSH ID:D013587 | Lues | SNOMEDCT ID:76272004 | Treponemal infection | Syphilis (disorder) | Infection by Treponema pallidum | SNOMEDCT ID:186904000 | Other and unspecified syphilis | Luetic disease | SNOMEDCT ID:154379007 | MONDO:0005976 | UMLS ID:C0039128 | syphilis | (Syphilis (& [other and unspecified])) or (treponemal infection) (disorder) | (Syphilis (& [other and unspecified])) or (treponemal infection) | Treponemal disease | Syphilis +BMGC_DS02404,BMG_DS003111,"congenital syphilis | MeSH ID:D013590 | MONDO:0005714 | UMLS ID:C0039131 | Syphilis, Congenital | DOID:9856" +BMGC_DS02405,BMG_DS003113,"MeSH ID:D013592 | Syphilis, Latent | latent syphilis | DOID:9531 | MONDO:0005822 | UMLS ID:C0039133" +BMGC_DS02406,BMG_DS003115,MeSH ID:D013595 | (Myelopathy NOS) or (syringomyelia) | (Myelopathy NOS) or (syringomyelia) (disorder) | SNOMEDCT ID:267695005 | Myelopathy NOS | Syringomyelia-anesthesia syndrome | MONDO:0017987 | SNOMEDCT ID:155020007 | Myelosyringosis | Syringomyelia (disorder) | Syringomyelia-anaesthesia syndrome | UMLS ID:C0039144 | syringomyelia | DOID:327 | Syringomyelia | Hydrosyringomyelia | SNOMEDCT ID:111496009 | OMIM ID:MTHU036587 +BMGC_DS02407,BMG_DS003117,DOID:10027 | Tabes Dorsalis | MeSH ID:D013606 | tabes dorsalis | UMLS ID:C0039223 | MONDO:0005977 +BMGC_DS02408,BMG_DS003118,"UMLS ID:C0039232 | MeSH ID:D013611 | Tachycardia, Atrioventricular Nodal Reentry" +BMGC_DS02409,BMG_DS003119,"MeSH ID:D013612 | Tachycardia, Ectopic Atrial | UMLS ID:C0039234" +BMGC_DS02410,BMG_DS003121,"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 | OMIM ID:MTHU067752 | Tachycardia - parox.sup | SNOMEDCT ID:155363003 | Supravent. tach. parox. | SVT - Supraventricular tachycardia | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) | ICD11 ID:BC81.Z | Paroxysmal sup. tachy. | SNOMEDCT ID:266305002 | Parox. supravent. tachycardia | Paroxysmal artrial tachycardia | Supraventricular tachycardia (disorder) | SNOMEDCT ID:6456007 | UMLS ID:C0039240 | ICD10 ID:I47.1 | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) (disorder) | Paroxysmal atrial tachycardia | Supraventricular tachyarrhythmia, unspecified" +BMGC_DS02413,BMG_DS003126,Takayasu arteritis | Takayasu's arteritis | OMIM ID:207600 | MeSH ID:D013625 | DOID:2508 | Takayasu Arteritis | MONDO:0017991 | UMLS ID:C0039263 +BMGC_DS02414,BMG_DS003127,DOID:1388 | Tangier disease | MONDO:0008783 | MeSH ID:D013631 | OMIM ID:205400 | Tangier Disease | UMLS ID:C0039292 +BMGC_DS02415,BMG_DS003128,MONDO:0006994 | UMLS ID:C0039319 | DOID:12526 | tarsal tunnel syndrome | Tarsal Tunnel Syndrome | MeSH ID:D013641 +BMGC_DS02416,BMG_DS003129,MeSH ID:D013651 | Taste Disorders | UMLS ID:C0039338 +BMGC_DS02417,BMG_DS003130,Tay-Sachs disease | DOID:3320 | MeSH ID:D013661 | Tay-Sachs Disease | UMLS ID:C0039373 | OMIM ID:272800 | MONDO:0010100 +BMGC_DS02418,BMG_DS003131,UMLS ID:C0039445 | ICD11 ID:LA90.00 | Osler hemorrhagic telangiectasia syndrome | hereditary hemorrhagic telangiectasia | Telangiectasia (& [hereditary hemorrhagic]) or diseases of capillaries NOS | Osler-Rendu-Weber syndrome | Heredit. hemorr.telang | Vascular spider | ICD10 ID:I78.0 | Diseases of capillaries NOS | Telangiectasia (& [hereditary haemorrhagic]) or diseases of capillaries NOS (disorder) | Osler-Rendu-Weber disease | Hereditary haemorrhagic telangiectasia | HHT - Hereditary hemorrhagic telangiectasia | SNOMEDCT ID:155449008 | Osler-Weber-Rendu disease | Telangiectasia | SNOMEDCT ID:266324004 | Telangiectasia (& [hereditary haemorrhagic]) or diseases of capillaries NOS | HHT - Hereditary haemorrhagic telangiectasia | Heredit. haemorr.telang | Osler haemorrhagic telangiectasia syndrome | Osler hemorrhagic telangiectasia syndrome (disorder) | SNOMEDCT ID:21877004 | MONDO:0019180 | DOID:1270 | Hereditary hemorrhagic telangiectasia +BMGC_DS02419,BMG_DS003132,MONDO:0001576 | DOID:1272 | telangiectasis | UMLS ID:C0039446 +BMGC_DS02420,BMG_DS003133,DOID:13375 | Giant Cell Arteritis | UMLS ID:C0039483 | temporal arteritis | MeSH ID:D013700 +BMGC_DS02421,BMG_DS003135,MeSH ID:D013705 | Temporomandibular Joint Disorders | UMLS ID:C0039494 | temporomandibular joint disorder | MONDO:0005473 +BMGC_DS02422,BMG_DS003136,MONDO:0021895 | Temporomandibular Joint Dysfunction Syndrome | UMLS ID:C0039496 | MeSH ID:D013706 | temporomandibular joint dysfunction syndrome +BMGC_DS02423,BMG_DS003137,SNOMEDCT ID:34840004 | MeSH ID:D052256 | Tendinitis (disorder) | Tendinitis | Inflammatory disorder of tendon | MONDO:0004857 | DOID:971 | Tendonitis | UMLS ID:C0039503 | SNOMEDCT ID:312785002 | tendinitis | Tendinopathy +BMGC_DS02424,BMG_DS003138,Tennis Elbow | MeSH ID:D013716 | epicondylitis | DOID:14087 | UMLS ID:C0039516 +BMGC_DS02425,BMG_DS003139,MeSH ID:D013717 | Synovitis &/or tenosynovitis (disorder) | SNOMEDCT ID:156666009 | Tendovaginitis | Synovitis &/or tenosynovitis | Tenovaginitis | Tenosynovitis | Tenontolemmitis | DOID:970 | Synovitis | Tendinous synovitis | UMLS ID:C0039520 | Synovitis/tenosynovitis | MONDO:0004855 | tenosynovitis | Tenosynovitis (disorder) | OMIM ID:MTHU007362 | SNOMEDCT ID:268092005 | SNOMEDCT ID:240035004 | SNOMEDCT ID:67801009 | Inflammation of tendon sheath +BMGC_DS02426,BMG_DS003140,UMLS ID:C0039538 | MONDO:0002601 | teratoma | DOID:3307 +BMGC_DS02427,BMG_DS003141,MONDO:0002329 | testicular disease | Testicular Diseases | testicular disorder | UMLS ID:C0039584 | MeSH ID:D013733 | DOID:2519 +BMGC_DS02428,BMG_DS003142,androgen insensitivity syndrome | MONDO:0019154 | UMLS ID:C0039585 | Androgen-Insensitivity Syndrome | DOID:4674 | MeSH ID:D013734 | OMIM ID:300068 +BMGC_DS02429,BMG_DS003143,UMLS ID:C0039590 | MONDO:0021348 | DOID:2998 | neoplasm of testis | testicular cancer +BMGC_DS02430,BMG_DS003144,SNOMEDCT ID:193607003 | SNOMEDCT ID:68216000 | tetanic cataract | MONDO:0001811 | Hypocalcemic cataract | DOID:13822 | UMLS ID:C0039613 | Hypocalcaemic cataract | Tetanic cataract | Tetanic cataract (disorder) +BMGC_DS02431,BMG_DS003145,MeSH ID:D013742 | Tetanus | UMLS ID:C0039614 | Tetanus (disorder) | DOID:11338 | SNOMEDCT ID:76902006 | tetanus | MONDO:0005526 | SNOMEDCT ID:154312006 +BMGC_DS02432,BMG_DS003146,OMIM ID:187500 | UMLS ID:C0039685 | tetralogy of Fallot | DOID:6419 | tetralogy of fallot | MONDO:0008542 +BMGC_DS02433,BMG_DS003147,thalamic disorder | MeSH ID:D013786 | DOID:4662 | MONDO:0003081 | Thalamic Diseases | UMLS ID:C0039726 | thalamic disease +BMGC_DS02434,BMG_DS003148,"Thalassaemia (disorder) | SNOMEDCT ID:191192008 | MONDO:0000984 | (Thalassaemia (& Mediterranean anaemia)) or (leptocytosis, hereditary) (disorder) | Thalassemia (disorder) | Thalassemia | DOID:10241 | Mediterranean anaemia | ICD10 ID:D56 | SNOMEDCT ID:191182000 | Thalassemias | Thalassaemia | (Thalassemia (& Mediterranean anemia)) or (leptocytosis, hereditary) | Hereditary leptocytosis | (Thalassaemia (& Mediterranean anaemia)) or (leptocytosis, hereditary) | (Thalassaemia) or (pyruvate kinase deficiency) | Leptocytosis, hereditary | SNOMEDCT ID:154796005 | (Thalassaemia) or (pyruvate kinase deficiency) (disorder) | SNOMEDCT ID:267557006 | Thalassaemias | (Thalassemia) or (pyruvate kinase deficiency) | UMLS ID:C0039730 | SNOMEDCT ID:40108008 | MeSH ID:D013789 | thalassemia | Mediterranean anemia | Pyruvate kinase deficiency" +BMGC_DS02435,BMG_DS003149,thanatophoric dysplasia | UMLS ID:C0039743 | MONDO:0017042 | DOID:13481 | Thanatophoric Dysplasia | MeSH ID:D013796 +BMGC_DS02436,BMG_DS003151,theileriasis | SNOMEDCT ID:68771000 | MeSH ID:D013801 | Infection caused by Theileria | Theileriasis | Infection caused by Theileria (disorder) | MONDO:0005978 | Infection by Theileria | Theileriosis | DOID:3733 | UMLS ID:C0039753 +BMGC_DS02437,BMG_DS003152,Thiamine Deficiency | UMLS ID:C0039841 | MeSH ID:D013832 +BMGC_DS02438,BMG_DS003154,MeSH ID:D013896 | UMLS ID:C0039978 | Thoracic Diseases | MONDO:0000651 | obsolete thoracic disorder +BMGC_DS02439,BMG_DS003155,thoracic cancer | MONDO:0021350 | neoplasm of thorax | DOID:5093 | UMLS ID:C0039981 +BMGC_DS02440,BMG_DS003156,UMLS ID:C0039984 | MONDO:0005979 | Thoracic Outlet Syndrome | DOID:3103 | thoracic outlet syndrome | MeSH ID:D013901 +BMGC_DS02441,BMG_DS003157,OMIM ID:273800 | Glanzmann's disease | Glanzmann thrombasthenia | MONDO:0100326;MONDO:0031332 | SNOMEDCT ID:32942005 | Thrombasthenia | Hereditary haemorrhagic thrombasthenia | MeSH ID:D013915 | Glanzmann's thrombasthenia | UMLS ID:C0040015 | Glanzmann thromboasthenia | Hereditary hemorrhagic thrombasthenia | Hereditary thromboasthenia | Glanzmann's syndrome | Glanzmann thrombasthenia 1 | Glanzmann-Naegeli disorder | DOID:2219 | Glanzmann's thrombasthenia (disorder) +BMGC_DS02442,BMG_DS003158,thromboangiitis obliterans | Thromboangiitis Obliterans | OMIM ID:211480 | DOID:12918 | UMLS ID:C0040021 | MeSH ID:D013919 | MONDO:0008889 +BMGC_DS02443,BMG_DS003159,"essential thrombocythemia | Thrombocythemia, Essential | MONDO:0005029 | MeSH ID:D013920 | UMLS ID:C0040028 | DOID:2224" +BMGC_DS02444,BMG_DS003160,MONDO:0002049 | SNOMEDCT ID:165556002 | Thrombocytopenia (& [auto-immune]) (finding) | Thrombocytopenic disorder | UMLS ID:C0040034 | SNOMEDCT ID:70786006 | SNOMEDCT ID:302215000 | Platelet count below reference range (finding) | Auto-immune thrombocytopenia | MeSH ID:D013921 | Thrombocytopenic disorder (disorder) | SNOMEDCT ID:142969008 | Thrombocytopenia (disorder) | Thrombocytopenia (& [auto-immune]) | Decreased platelet count | SNOMEDCT ID:415116008 | thrombocytopenia | Thrombocytopenia | Platelet count below reference range | DOID:1588 | Thrombocytopenia (& [auto-immune]) (procedure) +BMGC_DS02445,BMG_DS003161,thrombophlebitis | DOID:3875 | UMLS ID:C0040046 | MONDO:0002800 +BMGC_DS02446,BMG_DS003162,UMLS ID:C0040053 | thrombotic disease | MONDO:0000831 +BMGC_DS02447,BMG_DS003164,thymoma | MONDO:0006456 | DOID:3275 | UMLS ID:C0040100 +BMGC_DS02448,BMG_DS003165,Thymus Hyperplasia | MeSH ID:D013952 | UMLS ID:C0040115 +BMGC_DS02449,BMG_DS003167,Thyroid Crisis | UMLS ID:C0040127 | thyroid crisis | MONDO:0006996 | MeSH ID:D013958 | DOID:12837 +BMGC_DS02450,BMG_DS003168,Thyroid Diseases | thyroid gland disease | UMLS ID:C0040128 | DOID:50 | MeSH ID:D013959 +BMGC_DS02451,BMG_DS003169,DOID:1781 | MONDO:0015074 | thyroid tumor | UMLS ID:C0040136 | thyroid cancer +BMGC_DS02452,BMG_DS003170,DOID:7166 | Thyroiditis | UMLS ID:C0040147 | ICD10 ID:E06 | thyroiditis | SNOMEDCT ID:154664009 | OMIM ID:MTHU036938 | MeSH ID:D013966 | MONDO:0004126 | SNOMEDCT ID:82119001 | Thyroiditis (disorder) +BMGC_DS02453,BMG_DS003171,De Quervain's thyroiditis | subacute thyroiditis | de Quervain's thyroiditis | Subacute thyroiditis (& [de Quervain's]) | SNOMEDCT ID:38727009 | Subacute thyroiditis (disorder) | SNOMEDCT ID:154666006 | DOID:7165 | ICD10 ID:E06.1 | Subacute thyroiditis | Pseudogranulomatous thyroiditis | SNOMEDCT ID:190296009 | UMLS ID:C0040149 | De Quervain's disease | ICD11 ID:5A03.1 | MONDO:0006982 | Subacute thyroiditis (& [de Quervain's]) (disorder) +BMGC_DS02454,BMG_DS003172,"MeSH ID:D013969 | UMLS ID:C0040150 | DOID:14350 | Thyroiditis, Suppurative | suppurative thyroiditis | MONDO:0001947" +BMGC_DS02455,BMG_DS003173,"Hyperthyroidism | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] (disorder) | SNOMEDCT ID:154655004 | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) | Toxic goitre | MONDO:0010138 | DOID:7997 | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) (disorder) | UMLS ID:C0040156 | SNOMEDCT ID:267464006 | Goitre - toxic | SNOMEDCT ID:90739004 | Toxic goiter | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] | Nodule - thyroid, toxic | Thyrotoxicosis | Thyrotoxicosis: [+/- goiter] or [toxic goiter] or [Graves disease] or [thyroid nodule] | MeSH ID:D013971 | SNOMEDCT ID:267373004 | Graves' disease | Thyrotoxicosis +/- goiter | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goiter) | Thyrotoxicosis (disorder) | thyrotoxicosis | Thyrotoxicosis +/- goitre | Graves disease | Goiter - toxic | Toxic thyroid nodule | SNOMEDCT ID:190239004" +BMGC_DS02456,BMG_DS003174,tic disorder | DOID:2769 | UMLS ID:C0040188 +BMGC_DS02457,BMG_DS003175,MeSH ID:D013984 | DOID:4109 | UMLS ID:C0040196 | tick infestation | Tick Infestations | MONDO:0005980 +BMGC_DS02458,BMG_DS003176,MONDO:0005981 | UMLS ID:C0040197 | tick paralysis | DOID:11285 | MeSH ID:D013985 | Tick Paralysis +BMGC_DS02459,BMG_DS003179,Tietze's Syndrome | MONDO:0001858 | UMLS ID:C0040213 | DOID:14021 | Tietze's syndrome | MeSH ID:D013991 | Tietze syndrome +BMGC_DS02460,BMG_DS003180,Mycoses | Dermatophytosis including tinea or ringworm | Fungal infection | SNOMEDCT ID:266214005 | Dermatophytosis | SNOMEDCT ID:47382004 | Ringworm | Tinea | SNOMEDCT ID:154394006 | tinea infection | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | UMLS ID:C0040247 | Dermatophytosis (disorder) | Dermatophytosis-tinea/ringworm | SNOMEDCT ID:186984003 | (Dermatophytosis &/or tinea &/or ringworm) or (skin fungal infection) | Fungal infections | MeSH ID:D014005 | (Dermatophytosis &/or tinea &/or ringworm) or (skin fungal infection) (disorder) | Fungal infection of skin | MONDO:0005982 | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder) | Microsporic tinea +BMGC_DS02461,BMG_DS003181,MONDO:0001827 | MeSH ID:D010854 | UMLS ID:C0040249 | White Piedra | Piedra | DOID:13902 | white piedra +BMGC_DS02462,BMG_DS003182,UMLS ID:C0040250 | MeSH ID:D014006 | Tinea Capitis +BMGC_DS02463,BMG_DS003183,UMLS ID:C0040252 | Tinea corporis | Tinea corporis (disorder) | Tinea circinatus | MONDO:0001461 | Tinea circinata | Herpes circinatus | tinea corporis | Body tinea | SNOMEDCT ID:84849002 | Dermatophytosis of the trunk +BMGC_DS02464,BMG_DS003185,MONDO:0005983 | MeSH ID:D014007 | Tinea Favosa | DOID:4336 | UMLS ID:C0040254 | tinea favosa +BMGC_DS02465,BMG_DS003187,Tinea Pedis | DOID:12403 | MONDO:0005984 | UMLS ID:C0040259 | tinea pedis | MeSH ID:D014008 +BMGC_DS02466,BMG_DS003188,Dermatophytosis of nail | Dermatophytosis of nail (disorder) | Dermatophytic onychia | SNOMEDCT ID:186988000 | OM - Onychomycosis | ICD10 ID:B35.1 | OMIM ID:MTHU041767 | SNOMEDCT ID:154397004 | (Nail: [dermatophytosis] or [fungal infection]) or (onychomycosis) or (tinea unguium) | Tinea of nail | Onychomycosis (disorder) | Fungal infection of nail | tinea unguium | Onychomycosis | SNOMEDCT ID:414941008 | Onychomycosis (& [tinea of nail]) | MONDO:0001628 | Ringworm of nail | MeSH ID:D014009 | Onychomycosis (& [tinea of nail]) (disorder) | Tinea unguium (disorder) | UMLS ID:C0040261 | Tinea unguium | SNOMEDCT ID:266149008 | Tinea of nail - onychomycosis | SNOMEDCT ID:266215006 | ICD11 ID:1F28.1 | SNOMEDCT ID:30757001 | Fungal nail infection | (Nail: [dermatophytosis] or [fungal infection]) or (onychomycosis) or (tinea unguium) (disorder) +BMGC_DS02467,BMG_DS003189,pityriasis versicolor | UMLS ID:C0040262 | Tinea Versicolor | MONDO:0005915 | MeSH ID:D014010 | DOID:9060 +BMGC_DS02468,BMG_DS003190,(Tinnitus) or (hearing noises) (disorder) | ICD10 ID:H93.1 | (Tinnitus) or (hearing noises) | Tinnitus | Noise in ears | MeSH ID:D014012 | SNOMEDCT ID:155248003 | OMIM ID:MTHU003968 | SNOMEDCT ID:60862001 | Tinnitus (disorder) | Ringing in ears | ICD11 ID:MC41 | Tinnitus (finding) | UMLS ID:C0040264 | SNOMEDCT ID:194392000 | Hearing noises +BMGC_DS02469,BMG_DS003192,UMLS ID:C0040381 | DOID:1278 | tolosa-hunt syndrome | Tolosa-Hunt Syndrome | MeSH ID:D020333 | Tolosa-Hunt syndrome | MONDO:0018983 +BMGC_DS02470,BMG_DS003193,Tongue Diseases | DOID:10944 | tongue disease | MeSH ID:D014060 | UMLS ID:C0040409 | tongue disorder | MONDO:0001165 +BMGC_DS02471,BMG_DS003194,UMLS ID:C0040411 | MONDO:0021240 | tongue neoplasm +BMGC_DS02472,BMG_DS003195,UMLS ID:C0040412 | DOID:11514 | fissured tongue +BMGC_DS02473,BMG_DS003196,Lingua villosa nigra | UMLS ID:C0040414 | MONDO:0006777 | Black hairy tongue | Black hairy tongue (disorder) | Black tongue | DOID:13500 | Hairy tongue | hairy tongue | SNOMEDCT ID:81934005 | Melanoglossia +BMGC_DS02474,BMG_DS003198,SNOMEDCT ID:90176007 | DOID:10456 | Acute tonsillitis | Tonsillitis (& acute) (disorder) | Tonsillitis (& acute) | Tonsillitis (disorder) | SNOMEDCT ID:195665006 | MeSH ID:D014069 | tonsillitis | UMLS ID:C0040425 | OMIM ID:MTHU071368 | Throat infection - tonsillitis | Tonsillitis +BMGC_DS02475,BMG_DS003199,MONDO:0006999 | tooth disease | DOID:1091 | UMLS ID:C0040435 | Tooth Diseases | MeSH ID:D014076 | tooth disorder +BMGC_DS02476,BMG_DS003200,"MeSH ID:D014077 | DOID:2498 | tooth erosion | MONDO:0002325 | tooth erosion, non-bacterial | UMLS ID:C0040436 | Tooth Erosion" +BMGC_DS02477,BMG_DS003202,Tooth Resorption | DOID:13240 | tooth resorption | MeSH ID:D014091 | UMLS ID:C0040451 | MONDO:0001670 +BMGC_DS02478,BMG_DS003204,"UMLS ID:C0040457 | OMIM ID:187100 | teeth, supernumerary | MONDO:0008533" +BMGC_DS02479,BMG_DS003205,UMLS ID:C0040479 | MONDO:0005478 | torsades de pointes | Torsades de Pointes | MeSH ID:D016171 +BMGC_DS02480,BMG_DS003206,inherited torticollis | OMIM ID:189600 | UMLS ID:C0040485 | MONDO:0008583 +BMGC_DS02481,BMG_DS003207,Tourette syndrome | Combined vocal and multiple motor tic disorder | DOID:11119 | Tourette's syndrome | OMIM ID:137580 | SNOMEDCT ID:192624004 | OMIM ID:MTHU067724 | Gilles de la Tourette syndrome | MONDO:0007661 | Gilles de la Tourette syndrome (disorder) | (Psychogenic tics) or (Gilles de la Tourette's syndrome) (disorder) | Gilles de la Tourette's syndrome (disorder) | Tourette's disorder | Psychogenic tics | SNOMEDCT ID:5158005 | Gilles de la Tourettes syndrome | (Psychogenic tics) or (Gilles de la Tourette's syndrome) | Gilles de la Tourette's syndr. | Gilles de la Tourette's syndrome | SNOMEDCT ID:268778009 | UMLS ID:C0040517 +BMGC_DS02482,BMG_DS003208,Toxascariasis | toxascariasis | UMLS ID:C0040522 | DOID:3107 | MONDO:0005987 | MeSH ID:D017227 +BMGC_DS02483,BMG_DS003209,Infection caused by Toxocara (disorder) | ICD11 ID:1F6D | Infection by Toxascaris | UMLS ID:C0040553 | Toxocara infection | Toxocarosis | MONDO:0005988 | toxocariasis | MeSH ID:D014120 | Toxocariasis | Toxascariosis | SNOMEDCT ID:38995001 | Infection by Toxascaris (disorder) | Infection caused by Toxocara | SNOMEDCT ID:406619001 | Toxocariasis (disorder) | SNOMEDCT ID:76695000 | ICD10 ID:B83.0 +BMGC_DS02484,BMG_DS003210,MONDO:0005989 | SNOMEDCT ID:266225001 | Infection by Toxoplasma gondii (disorder) | toxoplasmosis | SNOMEDCT ID:187192000 | Other infect. and parasit.dis. | SNOMEDCT ID:9399000 | Other infectious and parasitic diseases | MeSH ID:D014123 | Toxoplasmosis | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder) | ICD10 ID:B58 | DOID:9965 | Infection by Toxoplasma gondii | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | Myiasis | UMLS ID:C0040558 | Leech infestation | Maggot infestation | Toxoplasmosis (disorder) | SNOMEDCT ID:154423006 +BMGC_DS02485,BMG_DS003212,"MeSH ID:D014125 | Toxoplasmosis, Congenital | congenital toxoplasmosis | UMLS ID:C0040560 | DOID:13336 | MONDO:0005715" +BMGC_DS02486,BMG_DS003215,DOID:3225 | Tracheal Diseases | MeSH ID:D014133 | tracheal disease | UMLS ID:C0040580 +BMGC_DS02487,BMG_DS003217,MeSH ID:D014135 | MONDO:0002568 | UMLS ID:C0040583 | Tracheal Stenosis | tracheal stenosis | DOID:3227 +BMGC_DS02488,BMG_DS003218,SNOMEDCT ID:62994001 | Tracheitis (disorder) | MONDO:0005990 | DOID:9392 | UMLS ID:C0040584 | MeSH ID:D014136 | tracheitis | Tracheitis +BMGC_DS02489,BMG_DS003220,Tracheobronchomegaly | MONDO:0010148 | MeSH ID:D014137 | OMIM ID:275300 | Congenital tracheobronchomegaly | UMLS ID:C0040587 | Mounier-Kuhn syndrome | Congenital tracheobronchomegaly (disorder) | SNOMEDCT ID:57451009 +BMGC_DS02490,BMG_DS003221,esophageal atresia/tracheoesophageal fistula | MONDO:0008586 | UMLS ID:C0040588 | OMIM ID:189960 +BMGC_DS02491,BMG_DS003222,UMLS ID:C0040592 | SNOMEDCT ID:154367007 | AIDS with viral/chlamydial disease NOS | Aids +viral/chlamydial dis.NOS | DOID:11265 | MeSH ID:D014141 | SNOMEDCT ID:266200005 | Trachoma | MONDO:0001249 | (AIDS with viral/chlamydial dis NOS) or (ornithosis) or (trachoma) | Trachoma (disorder) | ICD10 ID:A71 | SNOMEDCT ID:2576002 | (AIDS with viral/chlamydial dis NOS) or (ornithosis) or (trachoma) (disorder) | trachoma | Ornithosis +BMGC_DS02492,BMG_DS003224,DOID:507 | UMLS ID:C0040701 | adjustment disorder +BMGC_DS02493,BMG_DS003225,transient tic disorder | UMLS ID:C0040702 | MONDO:0002419 | DOID:2768 +BMGC_DS02494,BMG_DS003226,MONDO:0000153 | transposition of the great arteries | UMLS ID:C0040761 +BMGC_DS02495,BMG_DS003227,DOID:1233 | UMLS ID:C0040774 | transvestism +BMGC_DS02496,BMG_DS003230,Trench Fever | DOID:11101 | trench fever | UMLS ID:C0040830 | MONDO:0005991 | MeSH ID:D014205 +BMGC_DS02497,BMG_DS003233,Infection by larvae of Trichinella spiralis | Infection caused by larvae of Trichinella spiralis | UMLS ID:C0040896 | DOID:9784 | Infection caused by larvae of Trichinella (disorder) | MONDO:0019444 | Trichinelliasis | Infection by larvae of Trichinella | ICD10 ID:B75 | SNOMEDCT ID:88264003 | Trichinosis caused by Trichinella spiralis | Trichinellosis caused by Trichinella spiralis | Trichiniasis | Trichinosis | Infection caused by larvae of Trichinella spiralis (disorder) | Trichiniasis caused by Trichinella spiralis | Trichinelliasis caused by Trichinella spiralis | Infection caused by larvae of Trichinella | Trichinellosis | MeSH ID:D014235 | trichinosis | SNOMEDCT ID:709018004 | trichinellosis +BMGC_DS02498,BMG_DS003234,MeSH ID:D014245 | MONDO:0002154 | UMLS ID:C0040921 | trichomoniasis | DOID:1947 | Trichomonas Infections +BMGC_DS02499,BMG_DS003235,MeSH ID:D014247 | UMLS ID:C0040923 | DOID:0050269 | Trichomonas vaginitis urogenital infection | Trichomonas Vaginitis | Trichomonas vaginalis trichomoniasis | MONDO:0005993 +BMGC_DS02500,BMG_DS003239,UMLS ID:C0040938 | Tinea | Trichophytosis (disorder) | Trichophytosis | SNOMEDCT ID:123817002 | MeSH ID:D014005 +BMGC_DS02501,BMG_DS003240,trichostrongyloidiasis | MONDO:0005994 | MeSH ID:D014252 | DOID:1255 | Trichostrongyloidiasis | UMLS ID:C0040947 +BMGC_DS02502,BMG_DS003241,MeSH ID:D014253 | Trichostrongyliasis | Infection by Trichostrongylus | Trichostrongylosis | MONDO:0005995 | UMLS ID:C0040948 | DOID:1254 | SNOMEDCT ID:33710003 | Trichostrongyliasis (disorder) | trichostrongylosis +BMGC_DS02503,BMG_DS003242,OMIM ID:613229 | UMLS ID:C0040953 | trichotillomania | MONDO:0013189 +BMGC_DS02504,BMG_DS003243,Infection caused by Trichocephalus trichiura | DOID:1252 | SNOMEDCT ID:60570001 | Infection by Trichocephalus trichiura | UMLS ID:C0040954 | Infection caused by Trichuris trichiura | Infection caused by Trichuris trichiura (disorder) | Infection by Trichuris trichiura | trichuriasis +BMGC_DS02505,BMG_DS003244,Tricuspid Valve Insufficiency | DOID:4080 | UMLS ID:C0040961 | MONDO:0002870 | tricuspid valve insufficiency | MeSH ID:D014262 +BMGC_DS02506,BMG_DS003245,MONDO:0007001 | DOID:5644 | UMLS ID:C0040962 | tricuspid valve prolapse | MeSH ID:D014263 | Tricuspid Valve Prolapse +BMGC_DS02507,BMG_DS003246,tricuspid valve stenosis | MONDO:0005997 | Tricuspid Valve Stenosis | MeSH ID:D014264 | DOID:4078 | UMLS ID:C0040963 +BMGC_DS02508,BMG_DS003247,Trigeminal Neuralgia | MONDO:0008599 | MeSH ID:D014277 | DOID:12098 | OMIM ID:190400 | UMLS ID:C0040997 | trigeminal neuralgia +BMGC_DS02509,BMG_DS003248,SNOMEDCT ID:206809007 | SNOMEDCT ID:235108006 | Trismus (disorder) | Trismus (finding) | OMIM ID:MTHU001188 | SNOMEDCT ID:87866006 | Trismus | SNOMEDCT ID:163644005 | [D] Trismus | UMLS ID:C0041105 | MeSH ID:D014313 +BMGC_DS02510,BMG_DS003250,trombiculiasis | DOID:8399 | Trombiculiasis | MeSH ID:D014323 | MONDO:0005998 | UMLS ID:C0041170 +BMGC_DS02511,BMG_DS003251,MONDO:0002872 | trophoblastic neoplasm | DOID:4085 | UMLS ID:C0041182 +BMGC_DS02512,BMG_DS003252,Pyomyositis | Tropical myositis | Infectious myositis | SNOMEDCT ID:186430009 | UMLS ID:C0041188 | ICD10 ID:M60.0 | ICD11 ID:FB30 | MONDO:0019168 | Tropical pyomyositis (disorder) | SNOMEDCT ID:65110003 | DOID:876 | pyomyositis | Tropical pyomyositis +BMGC_DS02513,BMG_DS003253,UMLS ID:C0041207 | persistent truncus arteriosus | MONDO:0018072 +BMGC_DS02514,BMG_DS003254,(Rickettsioses [& named variants]) or (trypanosomiasis) | Rickettsioses etc | Trypanosomiasis (disorder) | Trypanosomiasis | Rocky Mountain spotted fever | Typhus | MONDO:0000940 | Rickettsioses etc. | (Rickettsioses [& named variants]) or (trypanosomiasis) (disorder) | Q fever | SNOMEDCT ID:154375001 | SNOMEDCT ID:78940002 | SNOMEDCT ID:266205000 | trypanosomiasis | Trypanosomosis | MeSH ID:D014352 | UMLS ID:C0041227 | DOID:10113 +BMGC_DS02515,BMG_DS003255,"DOID:10112 | MONDO:0005459 | MeSH ID:D014353 | Trypanosomiasis, African | sleeping sickness | human African trypanosomiasis | UMLS ID:C0041228 | African Trypanosomiasis" +BMGC_DS02516,BMG_DS003259,UMLS ID:C0041234 | MONDO:0001444 | Chagas Disease | DOID:12140 | Chagas disease | MeSH ID:D014355 +BMGC_DS02517,BMG_DS003261,MeSH ID:D014375 | UMLS ID:C0041295 | MONDO:0021943 | DOID:399 | Tuberculoma | Tuberculoma (disorder) | tuberculosis | tuberculoma | SNOMEDCT ID:15202009 +BMGC_DS02518,BMG_DS003262,SNOMEDCT ID:187285000 | SNOMEDCT ID:154281007 | SNOMEDCT ID:56717001 | UMLS ID:C0041296 | Tuberculosis | tuberculosis | TB - Tuberculosis | Tuberculosis (disorder) | MeSH ID:D014376 | MONDO:0018076 +BMGC_DS02519,BMG_DS003265,"UMLS ID:C0041307 | Tuberculosis, Bovine | MONDO:0025136 | tuberculosis, bovine | MeSH ID:D014380" +BMGC_DS02520,BMG_DS003266,"cardiac tuberculosis | UMLS ID:C0041308 | DOID:0060570 | Tuberculosis, Cardiovascular | MeSH ID:D014381" +BMGC_DS02521,BMG_DS003267,"MONDO:0021948 | MeSH ID:D014382 | Tuberculosis, Cutaneous | UMLS ID:C0041309 | cutaneous tuberculosis" +BMGC_DS02522,BMG_DS003270,"Tuberculosis, Gastrointestinal | MeSH ID:D014385 | UMLS ID:C0041312 | MONDO:0005768 | DOID:404 | gastrointestinal tuberculosis" +BMGC_DS02523,BMG_DS003271,"MeSH ID:D014386 | UMLS ID:C0041313 | MONDO:0005787 | Tuberculosis, Hepatic | DOID:407 | hepatic tuberculosis" +BMGC_DS02524,BMG_DS003272,"MeSH ID:D014387 | laryngeal tuberculosis | Tuberculosis, Laryngeal | UMLS ID:C0041315 | DOID:1583 | MONDO:0005819" +BMGC_DS02525,BMG_DS003275,"Tuberculosis, Meningeal | MONDO:0006042 | MeSH ID:D014390 | UMLS ID:C0041318 | meningeal tuberculosis" +BMGC_DS02526,BMG_DS003276,"Tuberculosis, Miliary | miliary tuberculosis | MeSH ID:D014391 | UMLS ID:C0041321 | DOID:9861 | MONDO:0005848" +BMGC_DS02527,BMG_DS003277,"ocular tuberculosis | MONDO:0006876 | MeSH ID:D014392 | Tuberculosis, Ocular | UMLS ID:C0041322" +BMGC_DS02528,BMG_DS003278,"Tuberculosis, Oral | oral tuberculosis | DOID:402 | MeSH ID:D014393 | UMLS ID:C0041323 | MONDO:0005887" +BMGC_DS02529,BMG_DS003280,"DOID:9801 | tuberculous peritonitis | MeSH ID:D014395 | MONDO:0006000 | UMLS ID:C0041325 | Peritonitis, Tuberculous" +BMGC_DS02530,BMG_DS003281,"DOID:106 | UMLS ID:C0041326 | pleural tuberculosis | MONDO:0005922 | MeSH ID:D014396 | Tuberculosis, Pleural | Pleural Tuberculosis" +BMGC_DS02531,BMG_DS003282,"Tuberculosis, Pulmonary | DOID:2957 | pulmonary tuberculosis | MeSH ID:D014397 | MONDO:0006052 | UMLS ID:C0041327" +BMGC_DS02532,BMG_DS003283,"MeSH ID:D014398 | UMLS ID:C0041328 | MONDO:0005938 | renal tuberculosis | DOID:9733 | Tuberculosis, Renal" +BMGC_DS02533,BMG_DS003284,"tuberculosis, spinal | UMLS ID:C0041330 | MONDO:0043836 | Tuberculosis, Spinal | MeSH ID:D014399" +BMGC_DS02534,BMG_DS003287,"MeSH ID:D014401 | urogenital tuberculosis | Tuberculosis, Urogenital | DOID:2149 | UMLS ID:C0041333 | MONDO:0006002" +BMGC_DS02535,BMG_DS003289,DOID:13515 | tuberous sclerosis | MONDO:0001734 | UMLS ID:C0041341 +BMGC_DS02536,BMG_DS003290,Tubo-ovarian abscess | Tubo ovarian abscess | Tubo-ovarian abscess (disorder) | SNOMEDCT ID:58949002 | UMLS ID:C0041343 +BMGC_DS02537,BMG_DS003291,"MeSH ID:D009395 | UMLS ID:C0041349 | MONDO:0001085 | interstitial nephritis | Nephritis, Tubulointerstitial | Nephritis, Interstitial" +BMGC_DS02538,BMG_DS003292,UMLS ID:C0041351 | tularemia | Tularemia (disorder) | SNOMEDCT ID:19265001 | ICD10 ID:A21 | Tularaemia | Rabbit fever | Yatobyo | Infection by Francisella tularensis | Deer fly fever | Ohara's disease | O'Hara's disease | Pahvant Valley plague | Deerfly fever | Francis' disease | MONDO:0018077 | Pahvant Valley fever | MeSH ID:D014406 | Tularemia +BMGC_DS02539,BMG_DS003293,MONDO:0043875 | UMLS ID:C0041364 | Tumor Lysis Syndrome | tumor lysis syndrome | MeSH ID:D015275 +BMGC_DS02540,BMG_DS003294,Turner Syndrome | DOID:3491 | MONDO:0019499 | Turner syndrome | MeSH ID:D014424 | UMLS ID:C0041408 +BMGC_DS02541,BMG_DS003295,"Turner Syndrome, Male | Noonan Syndrome | UMLS ID:C0041409 | MeSH ID:D009634" +BMGC_DS02542,BMG_DS003297,MeSH ID:D014435 | typhoid fever | DOID:13258 | MONDO:0005619 | Typhoid Fever | UMLS ID:C0041466 +BMGC_DS02543,BMG_DS003298,MONDO:0001246 | UMLS ID:C0041471 | typhus | DOID:11256 +BMGC_DS02544,BMG_DS003299,"MONDO:0000330 | UMLS ID:C0041472 | typhus | Typhus, Endemic Flea-Borne | DOID:11256 | endemic typhus | Endemic Flea-Borne Typhus | MeSH ID:D014437" +BMGC_DS02545,BMG_DS003300,"MeSH ID:D014438 | typhus | MONDO:0019362 | epidemic louse-borne typhus | DOID:11256 | UMLS ID:C0041473 | Typhus, Epidemic Louse-Borne" +BMGC_DS02546,BMG_DS003301,ulcer disease | MONDO:0043839 | UMLS ID:C0041582 +BMGC_DS02547,BMG_DS003304,Ancylostomiasis due to Ancylostoma duodenale | Ancylostomosis | Uncinariasis | Hookworm infection | Infection by Uncinaria | Uncinariosis | Ancylostomiasis | SNOMEDCT ID:414490001 | Infection caused by Uncinaria (disorder) | Infection caused by Uncinaria | SNOMEDCT ID:85807000 | UMLS ID:C0041648 | Infection by Uncinaria (disorder) +BMGC_DS02548,BMG_DS003305,DOID:1094 | attention deficit hyperactivity disorder | UMLS ID:C0041671 +BMGC_DS02549,BMG_DS003306,DOID:1595 | melancholic depression | UMLS ID:C0041696 +BMGC_DS02550,BMG_DS003309,DOID:2914 | UMLS ID:C0041806 | immune system disease +BMGC_DS02551,BMG_DS003310,tympanic membrane disorder | SNOMEDCT ID:21426000 | tympanic membrane disease | UMLS ID:C0041825 | DOID:5782 | TM - Tympanic membrane disorder | Tympanic membrane disorder | MONDO:0003648 | Disorder of tympanic membrane (disorder) | Disorder of tympanic membrane +BMGC_DS02552,BMG_DS003311,SNOMEDCT ID:247441003 | UMLS ID:C0041834 | Erythema (finding) | Erythema (morphologic abnormality) | Erythema | Erythema - observation | OMIM ID:MTHU015896 | MeSH ID:D004890 | SNOMEDCT ID:70819003 +BMGC_DS02553,BMG_DS003312,internal hemorrhoid | DOID:9749 | UMLS ID:C0041844 +BMGC_DS02554,BMG_DS003313,UMLS ID:C0041857 | DOID:10935 | dissociative disorder +BMGC_DS02555,BMG_DS003314,UMLS ID:C0041881 | DOID:551 | toxic pneumonitis +BMGC_DS02556,BMG_DS003315,respiratory tract infectious disorder | MONDO:0024355 | UMLS ID:C0041912 | MeSH ID:D012141 | Respiratory Tract Infections | Upper Respiratory Infections +BMGC_DS02557,BMG_DS003316,urachal cyst | UMLS ID:C0041915 | MONDO:0018844 +BMGC_DS02558,BMG_DS003317,SNOMEDCT ID:44730006 | Uraemia | Uremia (disorder) | OMIM ID:MTHU008842 | DOID:4676 | MONDO:0007008 | uremia | UMLS ID:C0041948 | MeSH ID:D014511 | Uremia +BMGC_DS02559,BMG_DS003318,Ureteric stone (disorder) | Ureterolithiasis (disorder) | Ureteric calculus | Calculus of ureter | SNOMEDCT ID:95573009 | ureterolithiasis | DOID:14146 | MeSH ID:D053039 | MONDO:0007009 | UMLS ID:C0041952 | SNOMEDCT ID:31054009 | Ureteric stone | Ureterolithiasis | Ureteral stone | Ureteral calculus +BMGC_DS02560,BMG_DS003319,UMLS ID:C0041955 | ureteral benign neoplasm | MONDO:0021111 | DOID:11885 | ureter neoplasm +BMGC_DS02561,BMG_DS003322,MONDO:0008628 | ureterocele | OMIM ID:191650 | DOID:4022 | UMLS ID:C0041960 +BMGC_DS02562,BMG_DS003323,UMLS ID:C0041969 | MeSH ID:D014522 | DOID:732 | Urethral Diseases | MONDO:0004184 | urethral disease | urethral disorder +BMGC_DS02563,BMG_DS003324,urethral benign neoplasm | DOID:730 | UMLS ID:C0041971 | urethra neoplasm | MONDO:0021239 +BMGC_DS02564,BMG_DS003325,urethral obstruction | MeSH ID:D014524 | UMLS ID:C0041972 | DOID:12577 | Urethral Obstruction | MONDO:0001556 +BMGC_DS02565,BMG_DS003326,UMLS ID:C0041974 | Urethral Stricture | MeSH ID:D014525 | Urethral Stenosis +BMGC_DS02566,BMG_DS003327,Urethritis | UMLS ID:C0041976 | MONDO:0005297 | DOID:1343 | Urethritis (disorder) | SNOMEDCT ID:31822004 | MeSH ID:D014526 | urethritis | Inflammation of urethra +BMGC_DS02567,BMG_DS003328,"Urinary Incontinence, Stress | Urinary Stress Incontinence | UMLS ID:C0042025 | MeSH ID:D014550" +BMGC_DS02568,BMG_DS003329,SNOMEDCT ID:155897002 | Urinary tract infection (& [NOS]) (disorder) | SNOMEDCT ID:68566005 | SNOMEDCT ID:266635000 | urinary tract infection | Urinary infection NOS | Urinary tract infection (& [NOS]) | MONDO:0100338 | Infection of urinary tract | Urinary tract infectious disease | UTI - Urinary tract infection | Urinary tract infectious disease (disorder) | OMIM ID:MTHU037523 | Urinary tract infection NOS | UMLS ID:C0042029 | Urinary tract infection +BMGC_DS02569,BMG_DS003331,Urination Disorders | UMLS ID:C0042035 | MeSH ID:D014555 +BMGC_DS02570,BMG_DS003332,UMLS ID:C0042075 | urinary system disorder | MONDO:0002118 | Urologic Diseases | MeSH ID:D014570 +BMGC_DS02571,BMG_DS003333,MONDO:0021066 | urinary system neoplasm | urinary system benign neoplasm | UMLS ID:C0042076 | DOID:731 +BMGC_DS02572,BMG_DS003334,Urticaria | (Angioneurotic edema) or (urticaria) | (Angioneurotic oedema) or (urticaria) | Angioneurotic edema | (Angioneurotic oedema) or (urticaria) (disorder) | SNOMEDCT ID:157756002 | SNOMEDCT ID:64305001 | Angioneurotic oedema | urticaria | SNOMEDCT ID:126485001 | SNOMEDCT ID:269433002 | OMIM ID:MTHU037793 | ICD10 ID:L50 | MONDO:0005492 | UMLS ID:C0042109 | SNOMEDCT ID:156427005 | MeSH ID:D014581 | Urticaria (disorder) | Urticaria (morphologic abnormality) +BMGC_DS02573,BMG_DS003335,UMLS ID:C0042111 | maculopapular cutaneous mastocytosis | urticaria pigmentosa | DOID:12309 | MONDO:0019316 +BMGC_DS02574,BMG_DS003336,MONDO:0002654 | MeSH ID:D014591 | UMLS ID:C0042131 | Uterine Diseases | uterine disorder | uterine disease | DOID:345 +BMGC_DS02575,BMG_DS003337,uterine corpus leiomyoma | UMLS ID:C0042133 | uterine fibroid | MONDO:0007886 | OMIM ID:150699 | DOID:13223 +BMGC_DS02576,BMG_DS003339,tumor of uterus | uterine cancer | MONDO:0021353 | DOID:363 | UMLS ID:C0042138 +BMGC_DS02577,BMG_DS003341,Uveal Diseases | DOID:3480 | uveal disorder | MeSH ID:D014603 | UMLS ID:C0042161 | MONDO:0002661 | uveal disease +BMGC_DS02578,BMG_DS003343,Cyclitis | MONDO:0020283 | SNOMEDCT ID:155116005 | OMIM ID:MTHU007399 | uveitis | SNOMEDCT ID:267719008 | MeSH ID:D014605 | Uveitis (disorder) | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) (disorder) | UMLS ID:C0042164 | Iris disorders | Ciliary body disorders | Uveitis | Iris/ciliary body disorders | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) | SNOMEDCT ID:128473001 | Intraocular inflammation | Disorders of iris and ciliary body | DOID:13141 +BMGC_DS02579,BMG_DS003344,Anterior uveitis (disorder) | SNOMEDCT ID:77971008 | Anterior uveitis | SNOMEDCT ID:410692006 | SNOMEDCT ID:231946008 | UMLS ID:C0042165 | Iridocyclitis | SNOMEDCT ID:193500005 | Iridocyclitis (disorder) | anterior uveitis | MONDO:0006651 | DOID:1407 | OMIM ID:MTHU021203 +BMGC_DS02580,BMG_DS003345,"UMLS ID:C0042166 | Uveitis, Intermediate | DOID:12732 | MONDO:0006806 | intermediate uveitis | MeSH ID:D015867" +BMGC_DS02581,BMG_DS003346,"MeSH ID:D015866 | DOID:12574 | UMLS ID:C0042167 | posterior uveitis | MONDO:0006918 | Uveitis, Posterior" +BMGC_DS02582,BMG_DS003347,"suppurative uveitis | DOID:13140 | MONDO:0006990 | UMLS ID:C0042168 | Uveitis, Suppurative | MeSH ID:D015829" +BMGC_DS02583,BMG_DS003348,MONDO:0018092 | MeSH ID:D014607 | DOID:12297 | UMLS ID:C0042170 | Uveomeningoencephalitic Syndrome | Vogt-Koyanagi-Harada disease +BMGC_DS02584,BMG_DS003349,MeSH ID:D014608 | Uveoparotid Fever | MONDO:0007011 | UMLS ID:C0042171 | uveoparotid fever | DOID:13404 +BMGC_DS02585,BMG_DS003351,MONDO:0002595 | Vaccinia | vaccinia | MeSH ID:D014615 | SNOMEDCT ID:111852003 | DOID:3298 | Vaccinia (disorder) | UMLS ID:C0042214 +BMGC_DS02586,BMG_DS003354,DOID:119 | vaginal cancer | MONDO:0001402 | UMLS ID:C0042237 +BMGC_DS02587,BMG_DS003355,UMLS ID:C0042251 | MONDO:0001433 | vaginal disease | Vaginal Diseases | DOID:121 | vaginal disorder | MeSH ID:D014623 +BMGC_DS02588,BMG_DS003356,UMLS ID:C0042258 | DOID:119 | vaginal neoplasm | MONDO:0021050 | vaginal cancer +BMGC_DS02589,BMG_DS003357,psychologic vaginismus | DOID:10131 | UMLS ID:C0042266 | MONDO:0000946 +BMGC_DS02590,BMG_DS003358,Vaginitis (disorder) | Inflammation of vagina | SNOMEDCT ID:30800001 | Vaginitis | UMLS ID:C0042267 | SNOMEDCT ID:393596009 | MeSH ID:D014627 | vaginitis | DOID:2170 | MONDO:0002234 +BMGC_DS02591,BMG_DS003359,Vaginitis and vulvovaginitis (disorder) | Vaginitis and vulvovaginitis | SNOMEDCT ID:198212006 | UMLS ID:C0042268 | vaginitis | DOID:2170 +BMGC_DS02592,BMG_DS003360,UMLS ID:C0042331 | Migraine Variant | MeSH ID:D008881 | Migraine Disorders | DOID:6364 | migraine +BMGC_DS02593,BMG_DS003361,Scrotal varices | DOID:12337 | SNOMEDCT ID:155480003 | ICD10 ID:I86.1 | Varicocele (disorder) | OMIM ID:MTHU036940 | ICD11 ID:BD75.1 | varicocele | Varicocele | MeSH ID:D014646 | UMLS ID:C0042341 | SNOMEDCT ID:51070004 | SNOMEDCT ID:195480007 | MONDO:0001498 +BMGC_DS02594,BMG_DS003362,MeSH ID:D014647 | Varicose Ulcer | UMLS ID:C0042344 +BMGC_DS02595,BMG_DS003363,UMLS ID:C0042345 | OMIM ID:192200 | MONDO:0008638 | varicose veins | varicose disease | DOID:799 +BMGC_DS02596,BMG_DS003366,MONDO:0001174 | conjunctival vascular disease | conjunctival vascular disorder | DOID:10989 | UMLS ID:C0042370 +BMGC_DS02597,BMG_DS003367,MONDO:0005385 | Vascular Diseases | MeSH ID:D014652 | vascular disease | UMLS ID:C0042373 | vascular disorder | DOID:178 +BMGC_DS02598,BMG_DS003368,UMLS ID:C0042374 | male genital organ vascular disease | SNOMEDCT ID:198057005 | DOID:12335 | Male genital organ vascular diseases (disorder) | Male genital organ vascular diseases | MONDO:0001497 +BMGC_DS02599,BMG_DS003369,MeSH ID:D014653 | Vascular Headaches | obsolete vascular headache | UMLS ID:C0042376 | MONDO:0040797 +BMGC_DS02600,BMG_DS003370,MONDO:0018882 | Vasculitis | UMLS ID:C0042384 | SNOMEDCT ID:393589007 | MeSH ID:D014657 | OMIM ID:MTHU018875 | SNOMEDCT ID:31996006 | vasculitis | Vasculitis (disorder) | SNOMEDCT ID:195375002 | DOID:865 | Angiitis +BMGC_DS02601,BMG_DS003371,"MeSH ID:D011695 | Vasculitis, Hemorrhagic | UMLS ID:C0042386 | IgA Vasculitis" +BMGC_DS02602,BMG_DS003374,UMLS ID:C0042454 | OMIM ID:167500 | MeSH ID:D014681 | Velopharyngeal Insufficiency | MONDO:0008180 | congenital velopharyngeal incompetence +BMGC_DS02603,BMG_DS003376,UMLS ID:C0042485 | venous insufficiency | MONDO:0000945 | DOID:10128 | MeSH ID:D014689 | Venous Insufficiency +BMGC_DS02604,BMG_DS003377,MONDO:0000190 | ventricular fibrillation | Ventricular Fibrillation | MeSH ID:D014693 | UMLS ID:C0042510 +BMGC_DS02605,BMG_DS003378,UMLS ID:C0042512 | Ventricular Outflow Obstruction | MeSH ID:D014694 +BMGC_DS02606,BMG_DS003379,"MeSH ID:D017180 | Tachycardia, Ventricular | MONDO:0005477 | ventricular tachycardia | UMLS ID:C0042514" +BMGC_DS02607,BMG_DS003380,SNOMEDCT ID:63440008 | UMLS ID:C0042548 | Plantar wart (disorder) | Verruca plantaris (disorder) | Verruca plantaris | Verruca pedis | DOID:13775 | plantar wart | Plantar wart | MONDO:0001795 | ICD10 ID:B07.0 | SNOMEDCT ID:154363006 | VP - verruca pedis +BMGC_DS02608,BMG_DS003382,Vertebrobasilar Insufficiency | MONDO:0001631 | vertebral artery insufficiency | UMLS ID:C0042560 | Vertebral Artery Insufficiency | DOID:13095 | MeSH ID:D014715 +BMGC_DS02609,BMG_DS003383,MONDO:0001613 | Vertebrobasilar Insufficiency | DOID:13003 | UMLS ID:C0042568 | vertebrobasilar insufficiency | MeSH ID:D014715 +BMGC_DS02610,BMG_DS003384,MeSH ID:D014718 | MONDO:0006007 | vesicoureteral reflux | UMLS ID:C0042580 | Vesico-Ureteral Reflux | DOID:9620 +BMGC_DS02611,BMG_DS003387,DOID:9365 | SNOMEDCT ID:155935006 | MONDO:0004767 | Spermatocystitis | Seminal vesiculitis | vesiculitis | UMLS ID:C0042588 | SNOMEDCT ID:27001009 | Seminal vesiculitis (disorder) +BMGC_DS02612,BMG_DS003388,UMLS ID:C0042594 | MeSH ID:D015837 | vestibular disorder | Vestibular Diseases | vestibular disease | MONDO:0002643 | DOID:3426 +BMGC_DS02613,BMG_DS003389,MONDO:0007014 | vibrio infectious disease | MeSH ID:D014735 | Vibrio Infections | UMLS ID:C0042636 +BMGC_DS02614,BMG_DS003390,"MeSH ID:D009437 | Neuralgia | UMLS ID:C0042656 | Neuralgia, Vidian" +BMGC_DS02615,BMG_DS003394,UMLS ID:C0042749 | SNOMEDCT ID:2528003 | Viraemia | Viremia (finding) | Viremia | MeSH ID:D014766 +BMGC_DS02616,BMG_DS003395, | UMLS ID:C0042769 | MeSH ID:D014777 | viral infectious disease | DOID:934 | Virus Diseases | MONDO:0005108 +BMGC_DS02617,BMG_DS003396,Intestinal Pseudo-Obstruction | Visceral Myopathy | UMLS ID:C0042781 | MeSH ID:D007418 +BMGC_DS02618,BMG_DS003398,UMLS ID:C0042790 | MONDO:0021084 | vision disorder +BMGC_DS02619,BMG_DS003400,"UMLS ID:C0042798 | Low Vision | MeSH ID:D015354 | Vision, Low" +BMGC_DS02620,BMG_DS003401,UMLS ID:C0042842 | MONDO:0007016 | vitamin A deficiency | Vitamin A Deficiency | MeSH ID:D014802 +BMGC_DS02621,BMG_DS003402,vitamin B12 deficiency | MONDO:0020696 | DOID:0050731 | Vitamin B 12 Deficiency | UMLS ID:C0042847 | MeSH ID:D014806 +BMGC_DS02622,BMG_DS003403,vitamin B deficiency | MONDO:0042976 | MeSH ID:D014804 | UMLS ID:C0042850 | Vitamin B Deficiency +BMGC_DS02623,BMG_DS003404,UMLS ID:C0042870 | vitamin D deficiency | Vitamin D Deficiency | MONDO:0100471 | MeSH ID:D014808 +BMGC_DS02624,BMG_DS003405,UMLS ID:C0042875 | MeSH ID:D014811 | Vitamin E Deficiency +BMGC_DS02625,BMG_DS003406,MeSH ID:D014813 | vitamin K deficiency bleeding | DOID:11249 | UMLS ID:C0042880 | Vitamin K Deficiency +BMGC_DS02626,BMG_DS003407,UMLS ID:C0042900 | SNOMEDCT ID:156437000 | SNOMEDCT ID:56727007 | Vitiligo (disorder) | MeSH ID:D014820 | DOID:12306 | ICD10 ID:L80 | OMIM ID:MTHU012246 | MONDO:0008661 | vitiligo | Vitiligo +BMGC_DS02627,BMG_DS003409,Vitreous abscess | UMLS ID:C0042904 | Vitreous abscess (disorder) | DOID:9723 | MONDO:0004862 | SNOMEDCT ID:48142003 | vitreous abscess +BMGC_DS02628,BMG_DS003410,MeSH ID:D020255 | DOID:9726 | vitreous detachment | UMLS ID:C0042907 | Vitreous Detachment +BMGC_DS02629,BMG_DS003413,Voice Disorders | UMLS ID:C0042940 | voice disorders | MeSH ID:D014832 | MONDO:0043862 +BMGC_DS02630,BMG_DS003414,DOID:5587 | MONDO:0003528 | Volkmann Contracture | MeSH ID:D054061 | Ischemic Contracture | UMLS ID:C0042951 | Volkmann contracture +BMGC_DS02631,BMG_DS003415,Intestinal Volvulus | UMLS ID:C0042961 | MeSH ID:D045822 | MONDO:0004570 | intestinal volvulus | DOID:8445 +BMGC_DS02632,BMG_DS003416,von Willebrand Diseases | MONDO:0024574 | von Willebrand's disease | von Willebrand Disease | von Willebrand disease (hereditary or acquired) | MeSH ID:D014842 | DOID:12531 | UMLS ID:C0042974 +BMGC_DS02633,BMG_DS003418,Vulvar Diseases | MeSH ID:D014845 | UMLS ID:C0042994 | DOID:2059 | MONDO:0002187 | vulvar disease +BMGC_DS02634,BMG_DS003419,MONDO:0021049 | UMLS ID:C0042995 | vulva cancer | DOID:1245 | vulvar neoplasm +BMGC_DS02635,BMG_DS003420,UMLS ID:C0042996 | SNOMEDCT ID:63144007 | Vulvitis (disorder) | DOID:3901 | Vulvitis | MONDO:0007018 | vulvitis | MeSH ID:D014847 +BMGC_DS02636,BMG_DS003421,Bacterial vaginosis | UMLS ID:C0042998 | SNOMEDCT ID:266655004 | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) | OMIM ID:MTHU026353 | MeSH ID:D014848 | Vaginitis - non sp. | Vaginitis/vulvovaginitis | Vulvo-vaginitis | vulvovaginitis | SNOMEDCT ID:53277000 | Vulvovaginitis (disorder) | Vulvitis - non sp. | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) (disorder) | MONDO:0007019 | Vulvovaginitis | SNOMEDCT ID:155981006 | DOID:2273 +BMGC_DS02637,BMG_DS003422,lateral medullary syndrome | Lateral Medullary Syndrome | MONDO:0006827 | MeSH ID:D014854 | DOID:3522 | UMLS ID:C0043019 +BMGC_DS02638,BMG_DS003423,UMLS ID:C0043020 | MONDO:0043280 | Wallerian degeneration +BMGC_DS02639,BMG_DS003424,UMLS ID:C0043037 | DOID:11165 | common wart +BMGC_DS02640,BMG_DS003425,MeSH ID:D019282 | UMLS ID:C0043046 | Wasting Syndrome +BMGC_DS02641,BMG_DS003426,UMLS ID:C0043049 | Water Intoxication | MeSH ID:D014869 | water intoxication | MONDO:0022007 +BMGC_DS02642,BMG_DS003427,DOID:9931 | MeSH ID:D014884 | UMLS ID:C0043068 | Waterhouse-Friderichsen Syndrome | Waterhouse-Friderichsen syndrome +BMGC_DS02643,BMG_DS003429,Hereditary Sensory and Motor Neuropathy | Werdnig-Hoffmann disease | DOID:13137 | MeSH ID:D015417 | UMLS ID:C0043116 | HMN (Hereditary Motor Neuropathy) Proximal Type I +BMGC_DS02644,BMG_DS003430,UMLS ID:C0043119 | DOID:5688 | OMIM ID:277700 | Werner syndrome | Werner Syndrome | MONDO:0010196 | MeSH ID:D014898 +BMGC_DS02645,BMG_DS003431,DOID:2384 | MONDO:0007020 | Wernicke encephalopathy | MeSH ID:D014899 | UMLS ID:C0043121 | Wernicke Encephalopathy +BMGC_DS02646,BMG_DS003432,DOID:2366 | MeSH ID:D014901 | UMLS ID:C0043124 | West Nile fever | West Nile Fever | MONDO:0002282 +BMGC_DS02647,BMG_DS003435,UMLS ID:C0043154 | MeSH ID:D003731 | Dental White Spot | Dental Caries +BMGC_DS02648,BMG_DS003436,Infection due to Bordetella pertussis | SNOMEDCT ID:27836007 | Whooping cough | Whooping Cough | MeSH ID:D014917 | pertussis | Pertussis (disorder) | UMLS ID:C0043167 | WC - Whooping cough | Pertussis | MONDO:0005077 +BMGC_DS02649,BMG_DS003438,OMIM ID:301000 | MONDO:0010518 | MeSH ID:D014923 | Wiskott-Aldrich syndrome | UMLS ID:C0043194 | DOID:9169 | Wiskott-Aldrich Syndrome +BMGC_DS02650,BMG_DS003439,MeSH ID:D014924 | MONDO:0006018 | DOID:3047 | UMLS ID:C0043195 | Wissler's Syndrome | Wissler syndrome | Wissler-Fanconi syndrome +BMGC_DS02651,BMG_DS003440,UMLS ID:C0043202 | MONDO:0008685 | Wolff-Parkinson-White Syndrome | MeSH ID:D014927 | OMIM ID:194200 | Wolff-Parkinson-White syndrome | DOID:384 +BMGC_DS02652,BMG_DS003441,Wolfram syndrome | MeSH ID:D014929 | DOID:10632 | MONDO:0018105 | Wolfram Syndrome | UMLS ID:C0043207 +BMGC_DS02653,BMG_DS003442,MONDO:0019148 | UMLS ID:C0043208 | DOID:14497 | OMIM ID:620151 | MeSH ID:D015223 | Wolman Disease | Wolman disease +BMGC_DS02654,BMG_DS003444,UMLS ID:C0043324 | MONDO:0015534 | DOID:4424 | juvenile xanthogranuloma +BMGC_DS02655,BMG_DS003445,Xanthoma | Xanthomatosis | DOID:3345 | UMLS ID:C0043325 | xanthomatosis | MONDO:0002615 | MeSH ID:D014973 | SNOMEDCT ID:63103006 | Xanthomatosis (disorder) +BMGC_DS02656,BMG_DS003446,Anhydrotic skin | Vitamin A deficiency with other specified manifestations | UMLS ID:C0043345 | Dry skin | SNOMEDCT ID:52475004 | MeSH ID:D007057 | Xerodermia | DOID:1697 | Ichthyosis | OMIM ID:MTHU077186 | ichthyosis | Xeroderma (disorder) | Xeroderma | ICD11 ID:5B55.Y | ICD10 ID:E50.8 +BMGC_DS02657,BMG_DS003447,MONDO:0019600 | xeroderma pigmentosum | DOID:0050427 | UMLS ID:C0043346 +BMGC_DS02658,BMG_DS003448,SNOMEDCT ID:363677007 | SNOMEDCT ID:193887002 | Xerophthalmia | SNOMEDCT ID:69316005 | Conjunctival xerosis | xerophthalmia | Conjunctival xerosis (& [xerophthalmia]) | MeSH ID:D014985 | SNOMEDCT ID:155167008 | Vitamin A deficiency with xerophthalmia (disorder) | Conjunctival xerosis (& [xerophthalmia]) (disorder) | OMIM ID:MTHU057773 | Vitamin A deficiency with xerophthalmia | DOID:10138 | UMLS ID:C0043349 | Xerophthalmia (disorder) +BMGC_DS02659,BMG_DS003449,SNOMEDCT ID:196513007 | ICD11 ID:DA04.6 | MeSH ID:D014987 | Dry mouth | SNOMEDCT ID:87715008 | Dry mouth (finding) | Clinical xerostomia | UMLS ID:C0043352 | ICD10 ID:K11.7 | Absent salivary secretion | Asialia | SNOMEDCT ID:162014002 | (Dry mouth) or (salivary hyposecretion) | Salivary hyposecretion | Aptyalia | Disturbances of salivary secretion | Xerostomia (finding) | OMIM ID:MTHU036698 | Aptyalism | Xerostomia | (Dry mouth) or (salivary hyposecretion) (disorder) +BMGC_DS02660,BMG_DS003450,SNOMEDCT ID:70647001 | Trench mouth | Framboesia | 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 | ICD10 ID:A66 | Yaws (disorder) | Lymphogranuloma venereum | Frambesia | Angina - Vincents | MONDO:0006019 | Other venereal/spirochaete disease | Leptospirosis | SNOMEDCT ID:266213004 | Chancroid | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | Yaws | Vincent's angina | Infection by Treponema pertenue | MeSH ID:D015001 | Weil's disease | Other venereal/spirochaete dis | Pian | DOID:10371 | UMLS ID:C0043388 | Buba | SNOMEDCT ID:154391003 +BMGC_DS02661,BMG_DS003451,Yellow Fever | MONDO:0020502 | yellow fever | DOID:9682 | UMLS ID:C0043395 | MeSH ID:D015004 +BMGC_DS02662,BMG_DS003454,MONDO:0007024 | UMLS ID:C0043410 | Yersinia pseudotuberculosis Infections | Yersinia pseudotuberculosis infectious disease | MeSH ID:D015012 +BMGC_DS02663,BMG_DS003455,Zellweger spectrum disorders | MeSH ID:D015211 | Zellweger Syndrome | UMLS ID:C0043459 | Zellweger syndrome | MONDO:0019609 | DOID:905 +BMGC_DS02664,BMG_DS003456,"MONDO:0019610 | Zollinger-Ellison syndr | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) | ICD11 ID:5A43.Z | Other pancreatic secretion dis | DOID:0050782 | Abnormal secretion of gastrin, unspecified | Zollinger - Ellison syndrome | SNOMEDCT ID:267477002 | Zollinger-Ellison syndrome (disorder) | ZE - Zollinger-Ellison syndrome | SNOMEDCT ID:154694003 | Hyperinsulinism | ICD10 ID:E16.4 | SNOMEDCT ID:53132006 | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) (disorder) | Zollinger-Ellison syndrome | Excessive gastrin secretion | UMLS ID:C0043515 | OMIM ID:MTHU036718" +BMGC_DS02665,BMG_DS003458,SNOMEDCT ID:187098003 | UMLS ID:C0043541 | Zygomycosis | SNOMEDCT ID:59277005 | Phycomycosis | Zygomycosis (& [mucormycosis]) | MeSH ID:D020096 | Zygomycosis (& [mucormycosis]) (disorder) | MONDO:0019136 | Mucormycosis | Zygomycosis (disorder) | ICD10 ID:B46 +BMGC_DS02666,BMG_DS003459,UMLS ID:C0078888 | MeSH ID:D016170 | Accelerated Idioventricular Rhythm +BMGC_DS02667,BMG_DS003461,UMLS ID:C0078917 | MONDO:0017304 | ocular albinism +BMGC_DS02668,BMG_DS003462,oculocutaneous albinism | MONDO:0018910 | UMLS ID:C0078918 +BMGC_DS02669,BMG_DS003463,arachnoid cyst | MeSH ID:D016080 | UMLS ID:C0078981 | MONDO:0008813 | Arachnoid Cysts +BMGC_DS02670,BMG_DS003465,UMLS ID:C0079102 | MeSH ID:D020767 | DOID:4193 | intracranial thrombosis | Intracranial Thrombosis | Cerebral Thrombosis +BMGC_DS02671,BMG_DS003466,MeSH ID:D016108 | UMLS ID:C0079136 | Epidermolysis Bullosa Dystrophica | Cockayne-Touraine Disease +BMGC_DS02672,BMG_DS003467,"Hyperkeratosis, Epidermolytic | MONDO:0007239 | epidermolytic ichthyosis | UMLS ID:C0079153 | MeSH ID:D017488 | DOID:4603 | epidermolytic hyperkeratosis" +BMGC_DS02673,BMG_DS003468,"UMLS ID:C0079154 | autosomal recessive congenital ichthyosis | Ichthyosis, Lamellar | congenital non-bullous ichthyosiform erythroderma | MONDO:0019306 | Congenital Nonbullous Ichthyosiform Erythroderma | DOID:0060655 | MeSH ID:D017490" +BMGC_DS02674,BMG_DS003470,MONDO:0007608 | desmoid tumor | OMIM ID:135290 | UMLS ID:C0079218 +BMGC_DS02675,BMG_DS003472,UMLS ID:C0079293 | acquired epidermolysis bullosa | DOID:4313 | Epidermolysis Bullosa Acquisita | MONDO:0018747 | MeSH ID:D016107 | epidermolysis bullosa acquisita +BMGC_DS02676,BMG_DS003473,MeSH ID:D016108 | Epidermolysis Bullosa Dystrophica | UMLS ID:C0079294 | DOID:4959 | MONDO:0006543 | epidermolysis bullosa dystrophica +BMGC_DS02677,BMG_DS003474,"Epidermolysis Bullosa Herpetiformis Dowling-Meara | OMIM ID:131760 | MeSH ID:D016110 | UMLS ID:C0079295 | epidermolysis bullosa simplex 1A, generalized severe | Epidermolysis Bullosa Simplex | MONDO:0007550" +BMGC_DS02678,BMG_DS003475,"UMLS ID:C0079297 | Epidermolysis Bullosa, Junctional | MeSH ID:D016109 | Epidermolysis Bullosa Progressiva" +BMGC_DS02679,BMG_DS003476,DOID:4644 | MeSH ID:D016110 | MONDO:0017610 | epidermolysis bullosa simplex | Epidermolysis Bullosa Simplex | UMLS ID:C0079298 +BMGC_DS02680,BMG_DS003477,"Epidermolysis Bullosa, Junctional | Junctional Epidermolysis Bullosa | MeSH ID:D016109 | junctional epidermolysis bullosa | MONDO:0017612 | UMLS ID:C0079301 | DOID:3209" +BMGC_DS02681,BMG_DS003479,UMLS ID:C0079474 | OMIM ID:226600 | MeSH ID:D016108 | Epidermolysis Bullosa Dystrophica | MONDO:0009179 | Hallopeau-Siemens Disease | recessive dystrophic epidermolysis bullosa +BMGC_DS02682,BMG_DS003480,Heart Valve Prolapse | MeSH ID:D016127 | DOID:4079 | heart valve disease | UMLS ID:C0079485 +BMGC_DS02683,BMG_DS003481,Helicobacter pylori infectious disease | Helicobacter Infections | UMLS ID:C0079487 | MeSH ID:D016481 | MONDO:0006781 +BMGC_DS02684,BMG_DS003482,MONDO:0019312 | Hermanski-Pudlak Syndrome | Hermansky-Pudlak syndrome | DOID:3753 | MeSH ID:D022861 | UMLS ID:C0079504 +BMGC_DS02685,BMG_DS003483,holoprosencephaly | DOID:4621 | MONDO:0016296 | UMLS ID:C0079541 +BMGC_DS02686,BMG_DS003484,"UMLS ID:C0079583 | MeSH ID:D016113 | Ichthyosiform Erythroderma, Congenital" +BMGC_DS02687,BMG_DS003485,UMLS ID:C0079584 | Ichthyosis Vulgaris | DOID:1702 | MONDO:0024304 | ichthyosis vulgaris | MeSH ID:D016112 +BMGC_DS02688,BMG_DS003486,"MeSH ID:D016114 | UMLS ID:C0079588 | X-linked ichthyosis | recessive X-linked ichthyosis | Ichthyosis, X-Linked | MONDO:0010622 | OMIM ID:308100 | DOID:1700" +BMGC_DS02689,BMG_DS003487,Waardenburg syndrome type 3 | Klein's Syndrome | MeSH ID:D014849 | UMLS ID:C0079661 | Waardenburg syndrome | DOID:9258 | Waardenburg Syndrome | MONDO:0007862 | OMIM ID:148820 +BMGC_DS02690,BMG_DS003488,Lentivirus Infections | UMLS ID:C0079680 | MeSH ID:D016180 | MONDO:0022034 | lentivirus infection +BMGC_DS02691,BMG_DS003489,"Epidermolysis Bullosa, Junctional | Herlitz Disease | MeSH ID:D016109 | OMIM ID:226700 | MONDO:0009182 | junctional epidermolysis bullosa Herlitz type | UMLS ID:C0079683" +BMGC_DS02692,BMG_DS003490,DOID:707 | MONDO:0004095 | B-cell lymphoma | B-cell neoplasm | UMLS ID:C0079731 +BMGC_DS02693,BMG_DS003491,UMLS ID:C0079744 | diffuse large B-cell lymphoma | MONDO:0018905 +BMGC_DS02694,BMG_DS003494,MONDO:0015760 | UMLS ID:C0079772 | T-cell non-Hodgkin lymphoma | DOID:0081312 +BMGC_DS02695,BMG_DS003495,primary cutaneous T-cell lymphoma | UMLS ID:C0079773 | MONDO:0015758 +BMGC_DS02696,BMG_DS003496,UMLS ID:C0079774 | primary cutaneous peripheral T-cell lymphoma not otherwise specified | MONDO:0019476 +BMGC_DS02697,BMG_DS003497,DOID:4376 | UMLS ID:C0079840 | milk allergy +BMGC_DS02698,BMG_DS003498,UMLS ID:C0079924 | DOID:12215 | oligohydramnios | MONDO:0005881 +BMGC_DS02699,BMG_DS003502,piebaldism | OMIM ID:172800 | MONDO:0008244 | DOID:3263 | UMLS ID:C0080024 +BMGC_DS02700,BMG_DS003504,Postpoliomyelitis Syndrome | MONDO:0017416 | UMLS ID:C0080040 | postpoliomyelitis syndrome | MeSH ID:D016262 | DOID:4952 +BMGC_DS02701,BMG_DS003506,"Skin Diseases, Vesiculobullous | MeSH ID:D012872 | UMLS ID:C0080159 | Vesicular Skin Diseases" +BMGC_DS02702,BMG_DS003508,DOID:0080016 | UMLS ID:C0080178 | spina bifida | MONDO:0008449 +BMGC_DS02703,BMG_DS003509,MONDO:0006995 | Tethered Cord Syndrome | Neural Tube Defects | tethered spinal cord syndrome | UMLS ID:C0080218 | MeSH ID:D009436 +BMGC_DS02704,BMG_DS003512,"MONDO:0007551 | UMLS ID:C0080333 | epidermolysis bullosa simplex 1C, localized | MeSH ID:D016110 | OMIM ID:131800 | Weber-Cockayne Syndrome | Epidermolysis Bullosa Simplex" +BMGC_DS02705,BMG_DS003514,granuloma annulare | MONDO:0006554 | DOID:3777 | MeSH ID:D016460 | UMLS ID:C0085074 | Granuloma Annulare +BMGC_DS02706,BMG_DS003515,MeSH ID:D016463 | MONDO:0011959 | sweet syndrome | OMIM ID:608068 | UMLS ID:C0085077 | DOID:0080746 | Sweet syndrome | Sweet Syndrome +BMGC_DS02707,BMG_DS003516,UMLS ID:C0085078 | MeSH ID:D016464 | DOID:3211 | MONDO:0002561 | lysosomal storage disease | Lysosomal Storage Diseases +BMGC_DS02708,BMG_DS003517,Systemic mycosis (disorder) | Systemic mycosis | Fungemia (finding) | Disseminated hyalohyphomycosis | Fungaemia (disorder) | SNOMEDCT ID:57202009 | SNOMEDCT ID:399314004 | Fungaemia | SNOMEDCT ID:240695000 | Fungemia | UMLS ID:C0085082 | SNOMEDCT ID:434532004 | Systemic fungal infection | Disseminated mycosis | MeSH ID:D016469 +BMGC_DS02709,BMG_DS003518,ovarian hyperstimulation syndrome | Ovarian Hyperstimulation Syndrome | DOID:5425 | MeSH ID:D016471 | MONDO:0011972 | UMLS ID:C0085083 | OMIM ID:608115 +BMGC_DS02710,BMG_DS003519,Motor Neuron Disease | MeSH ID:D016472 | UMLS ID:C0085084 | motor neuron disease | DOID:231 | MONDO:0020128 | motor neuron disorder +BMGC_DS02711,BMG_DS003520,peripheral vascular disease | MONDO:0005294 | Peripheral Vascular Diseases | UMLS ID:C0085096 | MeSH ID:D016491 +BMGC_DS02712,BMG_DS003521,MONDO:0008218 | Familial benign pemphigus | Familial benign pemphigus (disorder) | SNOMEDCT ID:79468000 | Familial benign chronic pemphigus | DOID:0050429 | OMIM ID:169600 | Hailey Hailey disease | Hailey-Hailey disease | UMLS ID:C0085106 | Benign familial chronic pemphigus +BMGC_DS02713,BMG_DS003522,Corneal Neovascularization | MONDO:0006713 | DOID:11382 | UMLS ID:C0085109 | corneal neovascularization | MeSH ID:D016510 +BMGC_DS02714,BMG_DS003523,severe combined immunodeficiency | UMLS ID:C0085110 | MONDO:0015974 | MeSH ID:D016511 | DOID:627 | Severe Combined Immunodeficiency +BMGC_DS02715,BMG_DS003524,MeSH ID:D016523 | Foot Ulcer | UMLS ID:C0085119 +BMGC_DS02716,BMG_DS003525,MeSH ID:D016535 | Bronchial Hyperreactivity | UMLS ID:C0085129 +BMGC_DS02717,BMG_DS003526,"MONDO:0018149 | GM1 gangliosidosis | Gangliosidosis, GM1 | MeSH ID:D016537 | UMLS ID:C0085131 | DOID:3322 | Gangliosidosis GM1" +BMGC_DS02718,BMG_DS003527,MeSH ID:D016538 | Sly syndrome | Mucopolysaccharidosis VII | OMIM ID:253220 | UMLS ID:C0085132 | MONDO:0009662 | DOID:12803 | mucopolysaccharidosis type 7 +BMGC_DS02719,BMG_DS003528,UMLS ID:C0085136 | central nervous system neoplasm | MONDO:0006130 | central nervous system cancer | DOID:3620 +BMGC_DS02720,BMG_DS003529,DOID:3540 | UMLS ID:C0085138 | choroid plexus neoplasm | choroid plexus cancer | MONDO:0016717 +BMGC_DS02721,BMG_DS003530,seasonal affective disorder | MONDO:0000694 | UMLS ID:C0085159 +BMGC_DS02722,BMG_DS003531,Hidradenitis | MONDO:0002260 | SNOMEDCT ID:267866004 | SNOMEDCT ID:156417004 | Dyshidrosis | Hidradenitis (& hidradenitis suppurativa) (disorder) | Hydradenitis | Hidradenitis suppurativa | Sweat gland problems NOS | UMLS ID:C0085160 | Hidradenitis (& hidradenitis suppurativa) | MeSH ID:D016575 | (Sweat gland problems NOS) or (dyshidrosis) or (hydradenitis (& [suppurativa]) | hidradenitis | (Sweat gland problems NOS) or (dyshidrosis) or (hydradenitis (& [suppurativa]) (disorder) | SNOMEDCT ID:69741000 | Hidradenitis (disorder) | SNOMEDCT ID:201204008 | SNOMEDCT ID:267814008 | DOID:2282 +BMGC_DS02723,BMG_DS003532,"MONDO:0005316 | Bacterial Vaginosis | UMLS ID:C0085166 | MeSH ID:D016585 | DOID:3385 | bacterial vaginosis | Vaginosis, Bacterial" +BMGC_DS02724,BMG_DS003533,MONDO:0006235 | granular cell tumor | DOID:2411 | UMLS ID:C0085167 +BMGC_DS02725,BMG_DS003534,UMLS ID:C0085179 | MeSH ID:D016603 | DOID:998 | eosinophilia-myalgia syndrome | MONDO:0004941 | Eosinophilia-Myalgia Syndrome +BMGC_DS02726,BMG_DS003535,"Gestational Diabetes | gestational diabetes | MeSH ID:D016640 | MONDO:0005406 | Diabetes, Gestational | UMLS ID:C0085207 | DOID:11714" +BMGC_DS02727,BMG_DS003536,"Encephalopathy, Bovine Spongiform | MONDO:0025149 | variant Creutzfeldt-Jakob disease | DOID:5435 | encephalopathy, bovine spongiform | UMLS ID:C0085209 | MeSH ID:D016643" +BMGC_DS02728,BMG_DS003537,"UMLS ID:C0085215 | MONDO:0005387 | primary ovarian insufficiency | primary ovarian failure | Primary Ovarian Insufficiency | MeSH ID:D016649 | DOID:5426 | Ovarian Failure, Premature" +BMGC_DS02729,BMG_DS003538,UMLS ID:C0085220 | MeSH ID:D016657 | Cerebral Amyloid Angiopathy +BMGC_DS02730,BMG_DS003539,MeSH ID:D016659 | Psoas Abscess | UMLS ID:C0085222 +BMGC_DS02731,BMG_DS003541,"adult-onset Still's disease | Still's Disease, Adult-Onset | adult-onset Still disease | MeSH ID:D016706 | MONDO:0019355 | Adult-Onset Still Disease | DOID:14256 | UMLS ID:C0085253" +BMGC_DS02732,BMG_DS003542,MONDO:0008318 | Proteus syndrome | OMIM ID:176920 | DOID:13482 | UMLS ID:C0085261 +BMGC_DS02733,BMG_DS003543,UMLS ID:C0085269 | MONDO:0006933 | DOID:3677 | pulmonary plasma cell granuloma +BMGC_DS02734,BMG_DS003544,orbital plasma cell granuloma | Orbital Pseudotumor | DOID:9369 | UMLS ID:C0085270 | orbital pseudotumor | MeSH ID:D016727 | MONDO:0004769 +BMGC_DS02735,BMG_DS003545,Erythema Infectiosum | MeSH ID:D016731 | UMLS ID:C0085273 | erythema infectiosum | MONDO:0006544 | DOID:8743 +BMGC_DS02736,BMG_DS003547,UMLS ID:C0085278 | MeSH ID:D016736 | antiphospholipid syndrome | Antiphospholipid Syndrome | MONDO:8000010 | DOID:2988 +BMGC_DS02737,BMG_DS003548,MONDO:0007318 | DOID:9245 | UMLS ID:C0085280 | Alagille syndrome +BMGC_DS02738,BMG_DS003549,Stiff-Person Syndrome | MONDO:0008491 | DOID:13366 | OMIM ID:184850 | Stiff-Person syndrome | UMLS ID:C0085292 | stiff-person syndrome | MeSH ID:D016750 +BMGC_DS02739,BMG_DS003550,Hepatitis E virus infection | hepatitis E | MeSH ID:D016751 | SNOMEDCT ID:7111000119109 | Hepatitis E | UMLS ID:C0085293 | DOID:4411 | Viral hepatitis type E | hepatitis E virus infection | Viral hepatitis type E (disorder) | MONDO:0005788 | Viral hepatitis E +BMGC_DS02740,BMG_DS003552,Embolism and Thrombosis | UMLS ID:C0085307 | MeSH ID:D016769 +BMGC_DS02741,BMG_DS003553,Ciliophora Infections | UMLS ID:C0085308 | MeSH ID:D016770 | MONDO:0005704 | Ciliophora infectious disease +BMGC_DS02742,BMG_DS003556,"cerebral toxoplasmosis | UMLS ID:C0085315 | MeSH ID:D016781 | Toxoplasmosis, Cerebral | MONDO:0005697" +BMGC_DS02743,BMG_DS003559,OMIM ID:609266 | MONDO:0018875 | Li-Fraumeni syndrome | Li-Fraumeni Syndrome | UMLS ID:C0085390 | DOID:3012 | OMIM ID:151623 | MeSH ID:D016864 +BMGC_DS02744,BMG_DS003561,UMLS ID:C0085394 | Serratia Infections | MeSH ID:D016868 +BMGC_DS02745,BMG_DS003563,UMLS ID:C0085396 | MeSH ID:D016870 | Neisseriaceae Infections +BMGC_DS02746,BMG_DS003564,Pasteurellaceae Infections | UMLS ID:C0085397 | MeSH ID:D016871 +BMGC_DS02747,BMG_DS003565,ICD10 ID:A77.4 | ehrlichiosis | Ehrlichiosis (disorder) | MeSH ID:D016873 | DOID:10242 | UMLS ID:C0085399 | MONDO:0016003 | Ehrlichiosis | SNOMEDCT ID:77361002 +BMGC_DS02748,BMG_DS003566,POEMS syndrome | MeSH ID:D016878 | UMLS ID:C0085404 | POEMS Syndrome | DOID:14039 | MONDO:0017364 +BMGC_DS02749,BMG_DS003567,ICD10 ID:B60.8 | MONDO:0005846 | Infection by Microsporida | DOID:4271 | Infection by Cnidosporidia | SNOMEDCT ID:699676006 | ICD11 ID:1F5Z | SNOMEDCT ID:61842000 | Infection caused by Microsporidia (disorder) | Microsporidiosis | Unspecified protozoal disease | UMLS ID:C0085407 | Infection by Microsporida (disorder) | MeSH ID:D016881 | microsporidiosis | Infection by Microsporidia | Infection caused by Microsporidia | Microsporidiasis +BMGC_DS02750,BMG_DS003568,"autoimmune polyendocrinopathy | DOID:14040 | UMLS ID:C0085409 | MeSH ID:D016884 | MONDO:0017278 | autoimmune polyendocrine syndrome | Polyendocrinopathies, Autoimmune" +BMGC_DS02751,BMG_DS003569,SNOMEDCT ID:71072006 | angiodysplasia | Angiodysplasia (morphologic abnormality) | DOID:2494 | Angiodysplasia | UMLS ID:C0085411 | MeSH ID:D016888 | MONDO:0002322 | OMIM ID:MTHU006470 +BMGC_DS02752,BMG_DS003570,Encephalitozoonosis | Infection caused by Encephalitozoon (disorder) | UMLS ID:C0085412 | SNOMEDCT ID:12825006 | MONDO:0005743 | encephalitozoonosis | MeSH ID:D016890 | Infection caused by Encephalitozoon | Infection by Encephalitozoon | DOID:4270 +BMGC_DS02753,BMG_DS003571,"MONDO:0004691 | MeSH ID:D016891 | UMLS ID:C0085413 | autosomal dominant polycystic kidney disease | Polycystic Kidney, Autosomal Dominant" +BMGC_DS02754,BMG_DS003572,"complex partial epilepsy | Epilepsy, Complex Partial | UMLS ID:C0085417 | DOID:12382 | MONDO:0006710 | MeSH ID:D017029" +BMGC_DS02755,BMG_DS003573,MONDO:0021678 | MeSH ID:D016905 | Gram-Negative Bacterial Infections | gram-negative bacterial infections | UMLS ID:C0085423 +BMGC_DS02756,BMG_DS003574,UMLS ID:C0085426 | gram-positive bacterial infections | MONDO:0021679 | MeSH ID:D016908 | Gram-Positive Bacterial Infections +BMGC_DS02757,BMG_DS003575,"Angiomatosis, Bacillary | bacillary angiomatosis | MeSH ID:D016917 | UMLS ID:C0085434 | MONDO:0000758 | DOID:0060345" +BMGC_DS02758,BMG_DS003576,"reactive arthritis | Arthritis, Reactive | UMLS ID:C0085435 | MONDO:0017376 | MeSH ID:D016918" +BMGC_DS02759,BMG_DS003577,"DOID:0080159 | Meningitis, Cryptococcal | MeSH ID:D016919 | Cryptococcal meningitis | MONDO:0005723 | UMLS ID:C0085436" +BMGC_DS02760,BMG_DS003578,"MeSH ID:D016920 | DOID:9470 | bacterial meningitis | MONDO:0006670 | UMLS ID:C0085437 | Meningitis, Bacterial" +BMGC_DS02761,BMG_DS003579,"UMLS ID:C0085438 | MONDO:0006764 | Meningitis, Fungal | MeSH ID:D016921 | fungal meningitis | DOID:11608" +BMGC_DS02762,BMG_DS003581,"UMLS ID:C0085541 | Epilepsy, Frontal Lobe | MeSH ID:D017034 | frontal lobe epilepsy | MONDO:0002612 | DOID:3331" +BMGC_DS02763,BMG_DS003583,"MONDO:0016366 | UMLS ID:C0085547 | Phenylketonuria, Maternal | phenylketonuria | DOID:9281 | maternal phenylketonuria | MeSH ID:D017042" +BMGC_DS02764,BMG_DS003584,"MeSH ID:D017044 | DOID:0110861 | Polycystic Kidney, Autosomal Recessive | autosomal recessive polycystic kidney disease | UMLS ID:C0085548 | MONDO:0009889 | Autosomal Recessive Polycystic Kidney Disease" +BMGC_DS02765,BMG_DS003585,MONDO:0000327 | Buruli Ulcer | DOID:0050456 | UMLS ID:C0085568 | MeSH ID:D054312 | Buruli ulcer disease +BMGC_DS02766,BMG_DS003586,"Hyperchloremic acidosis | SNOMEDCT ID:18104000 | Metabolic acidosis, NAG, acidifying salts | Metabolic acidosis, normal anion gap, acidifying salts | Metabolic acidosis, normal anion gap, acidifying salts (disorder) | UMLS ID:C0085569 | Hyperchloraemic acidosis" +BMGC_DS02767,BMG_DS003588,Palindromic rheumatism | Intermittent hydrarthrosis | (Palindromic rheumatism) or (intermittent joint effusion) | Palindromic rheumatism (disorder) | DOID:1166 | SNOMEDCT ID:50442003 | ICD10 ID:M12.3 | MeSH ID:C538103 | SNOMEDCT ID:202455001 | UMLS ID:C0085574 | MONDO:0001332 | ICD11 ID:FA27.2 | palindromic rheumatism | (Palindromic rheumatism) or (intermittent joint effusion) (disorder) | Hench-Rosenberg syndrome | Intermittent joint effusion | Hench - Rosenberg syndrome +BMGC_DS02768,BMG_DS003589,MeSH ID:C562385 | UMLS ID:C0085576 | DOID:11252 | microcytic anemia | MONDO:0008788 | OMIM ID:206200 | Iron-Refractory Iron Deficiency Anemia | IRIDA syndrome +BMGC_DS02769,BMG_DS003590,MONDO:0004139 | Normocytic anaemia | SNOMEDCT ID:300980002 | UMLS ID:C0085577 | DOID:720 | OMIM ID:MTHU039167 | Normocytic anemia | Normocytic anemia (disorder) | normocytic anemia +BMGC_DS02770,BMG_DS003591,MeSH ID:D017086 | Thalassemia Minor | UMLS ID:C0085578 | beta-Thalassemia +BMGC_DS02771,BMG_DS003592,UMLS ID:C0085580 | Essential Hypertension | DOID:10825 | MeSH ID:D000075222 | MONDO:0001134 | essential hypertension +BMGC_DS02772,BMG_DS003594,Retrobulbar Neuritis | Optic Neuritis | UMLS ID:C0085582 | MeSH ID:D009902 | retrobulbar neuritis | MONDO:0024335 +BMGC_DS02773,BMG_DS003595,Choreoathetosis (disorder) | UMLS ID:C0085583 | Choreoathetosis | SNOMEDCT ID:43105007 | OMIM ID:MTHU001903 +BMGC_DS02774,BMG_DS003596,Encephalopathies | MeSH ID:D001927 | UMLS ID:C0085584 | Brain Diseases | DOID:936 | brain disease +BMGC_DS02775,BMG_DS003598,MeSH ID:D017093 | OMIM ID:MTHU072923 | MONDO:0100192 | liver failure | UMLS ID:C0085605 | Liver Failure +BMGC_DS02776,BMG_DS003599,Ventricular arrhythmia (disorder) | UMLS ID:C0085612 | SNOMEDCT ID:44103008 | Ventricular arrhythmia | OMIM ID:MTHU006286 +BMGC_DS02777,BMG_DS003600,"First degree atrioventricular block (disorder) | First degree atrioventricular block | UMLS ID:C0085614 | SNOMEDCT ID:195041009 | Prolonged P-R interval | Prolonged PR interval | (Prolonged P-R interval) or (first degree AV block) (disorder) | SNOMEDCT ID:14256006 | Incomplete atrioventricular block, first degree | First degree heart block | MONDO:0000466 | SNOMEDCT ID:270492004 | (Prolonged P-R interval) or (first degree AV block) | first-degree atrioventricular block" +BMGC_DS02778,BMG_DS003601,RBBB - Right bundle branch block | SNOMEDCT ID:155358002 | SNOMEDCT ID:195064006 | Right bundle branch block | Right fascicular block | SNOMEDCT ID:59118001 | UMLS ID:C0085615 | OMIM ID:MTHU036516 | Right bundle branch block (disorder) | SNOMEDCT ID:195055001 +BMGC_DS02779,BMG_DS003602,SNOMEDCT ID:267697002 | Paralytic syndromes NOS | (Paralytic syndromes NOS) or (diplegia) or (monoplegia) | SNOMEDCT ID:155034007 | SNOMEDCT ID:86022000 | Hemiplegia | UMLS ID:C0085622 | Diplegia | MeSH ID:D006429 | (Paralytic syndromes NOS) or (diplegia) or (monoplegia) (disorder) | Monoplegia | Monoplegia (disorder) +BMGC_DS02780,BMG_DS003604,oculogyric crisis | MONDO:0000483 | UMLS ID:C0085637 +BMGC_DS02781,BMG_DS003605,MeSH ID:D054068 | livedo reticularis | Livedo Reticularis | MONDO:0044037 | UMLS ID:C0085642 +BMGC_DS02782,BMG_DS003606,UMLS ID:C0085650 | purpura fulminans | MeSH ID:D055665 | Purpura Fulminans | MONDO:0000809 | DOID:0060538 +BMGC_DS02783,BMG_DS003607,UMLS ID:C0085652 | Pyoderma Gangrenosum | pyoderma gangrenosum | DOID:8553 | MONDO:0018824 | MeSH ID:D017511 +BMGC_DS02784,BMG_DS003608,UMLS ID:C0085653 | MONDO:0022096 | pyogenic granuloma +BMGC_DS02785,BMG_DS003609,"DOID:0080745 | polymyositis | UMLS ID:C0085655 | SNOMEDCT ID:31384009 | PM - Polymyositis | ICD11 ID:4A41.1Z | OMIM ID:MTHU037341 | Neuromyositis | ICD10 ID:M33.2 | MONDO:0019127 | MeSH ID:D017285 | Polymyositis, unspecified | Polymyositis (disorder) | SNOMEDCT ID:156457001 | Polymyositis" +BMGC_DS02786,BMG_DS003610,Nummular eczema | Discoid eczema | SNOMEDCT ID:267846008 | UMLS ID:C0085656 | SNOMEDCT ID:81418003 | Contact dermatitis NOS | Nummular dermatitis | Nummular eczema (disorder) | Nummular eczematous dermatitis | (Contact dermatitis NOS) or (discoid eczema) or (nummular eczema) (disorder) | (Contact dermatitis NOS) or (discoid eczema) or (nummular eczema) | SNOMEDCT ID:156348006 +BMGC_DS02787,BMG_DS003619,DOID:12603 | MONDO:0010643 | acute leukemia | UMLS ID:C0085669 +BMGC_DS02788,BMG_DS003620,DOID:14183 | MONDO:0006645 | Alcoholic Neuropathy | alcoholic polyneuropathy | alcoholic neuropathy | MeSH ID:D020269 | UMLS ID:C0085677 +BMGC_DS02789,BMG_DS003621,"Hyperchloremia | UMLS ID:C0085679 | ICD10 ID:E87.8 | Hyperchloraemia | SNOMEDCT ID:74450001 | Other specified disorders of fluid, electrolyte or acidbase balance | OMIM ID:MTHU069313 | Hyperchloremia (disorder) | ICD11 ID:5C7Y" +BMGC_DS02790,BMG_DS003622,UMLS ID:C0085680 | SNOMEDCT ID:10399008 | Hypochloremia (disorder) | Hypochloraemia | Hypochloremia +BMGC_DS02791,BMG_DS003623,Hyperphosphatemia | Hyperphosphatemia (disorder) | SNOMEDCT ID:20165001 | hyperphosphatemia | DOID:0050459 | UMLS ID:C0085681 | Hyperphosphataemia | MONDO:0000328 +BMGC_DS02792,BMG_DS003624,SNOMEDCT ID:4996001 | hypophosphatemia | DOID:0050336 | UMLS ID:C0085682 | MeSH ID:D017674 | Hypophosphatemia (disorder) | MONDO:0000313 | Hypophosphataemia | Hypophosphatemia +BMGC_DS02793,BMG_DS003625,Meibomian adenitis | Chalazion | SNOMEDCT ID:397514009 | Infected chalazion | Infected meibomian cyst | DOID:9908 | Infection of meibomian gland | SNOMEDCT ID:414521009 | Internal hordeolum | MONDO:0004917 | UMLS ID:C0085690 | Internal hordeolum (disorder) | Infected cyst of meibomian gland | internal hordeolum | Hordeolum internum +BMGC_DS02794,BMG_DS003629,UMLS ID:C0085695 | OMIM ID:MTHU001681 | Chronic gastritis (disorder) | SNOMEDCT ID:8493009 | Chronic gastritis | chronic gastritis | CG - Chronic gastritis | MONDO:0005001 +BMGC_DS02795,BMG_DS003631,SNOMEDCT ID:63302006 | Chronic pyelonephritis (disorder) | SNOMEDCT ID:123293005 | Chronic pyelonephritis | Pyonephrosis - chronic | UMLS ID:C0085697 | (Chronic pyelonephritis) or (chronic pyonephrosis) (disorder) | OMIM ID:MTHU036826 | DOID:1076 | chronic pyelonephritis | MONDO:0001110 | (Chronic pyelonephritis) or (chronic pyonephrosis) | SNOMEDCT ID:155861006 | CPN - Chronic pyelonephritis | Chronic pyonephrosis | SNOMEDCT ID:266619007 +BMGC_DS02796,BMG_DS003633,"UMLS ID:C0085700 | ICD10 ID:M94.2 | Chondromalacia (disorder) | MONDO:0005569;MONDO:0002342 | obsolete cartilage disease | MeSH ID:D002357 | chondromalacia | ICD11 ID:FB82.0Z | DOID:2557 | SNOMEDCT ID:63198006 | Chondromalacia, unspecified | Chondromalacia | OMIM ID:MTHU059240 | Cartilage Diseases" +BMGC_DS02797,BMG_DS003635,"Pneumonia, Aspiration | MeSH ID:D011015 | Mendelson Syndrome | UMLS ID:C0085740" +BMGC_DS02798,BMG_DS003637,breast adenosis | MONDO:0003725 | microglandular adenosis | UMLS ID:C0085750 | DOID:5998 +BMGC_DS02799,BMG_DS003638,alcohol use disorder | DOID:1574 | MONDO:0002046 | alcohol abuse | UMLS ID:C0085762 +BMGC_DS02800,BMG_DS003640,Acute interstitial pneumonia (disorder) | Idiopath. fibrosing alveolitis | SNOMEDCT ID:45157009 | Idiopath. fibrosing alveolitis (& Hamman-Rich syndrome) (disorder) | Idiopathic fibrosing alveolitis | Fibrosing alveolitis-idiopath. | SNOMEDCT ID:129459004 | Acute interstitial pneumonia | SNOMEDCT ID:155624004 | Cryptogenic fibrosing alveolitis | ICD10 ID:J84.114 | Hamman-Rich disease | Idiopathic interstitial pneumonia | idiopathic interstitial pneumonia | UMLS ID:C0085786 | SNOMEDCT ID:196123009 | DOID:2797 | SNOMEDCT ID:233721005 | Fibrosing alveolitis: [idiopathic] or [cryptogenic]) or (Hamman - Rich syndrome) (disorder) | Hamman-Rich syndrome | Usual interstitial pneumonitis (disorder) | Alveolitis-idiopath. fibrosing | Idiopathic fibrosing alveolitis (disorder) | Fibrosing alveolitis: [idiopathic] or [cryptogenic]) or (Hamman - Rich syndrome) | Hamman - Rich syndrome | SNOMEDCT ID:266410004 | Usual interstitial pneumonitis | Idiopath. fibrosing alveolitis (& Hamman-Rich syndrome) +BMGC_DS02801,BMG_DS003642,Strongyloidiasis | UMLS ID:C0085810 | MeSH ID:D013322 | Anguilluliasis +BMGC_DS02802,BMG_DS003643,"Enterocolitis, Pseudomembranous | UMLS ID:C0085819 | Clostridium difficile colitis | MeSH ID:D004761 | Antibiotic-Associated Colitis | DOID:0060185" +BMGC_DS02803,BMG_DS003644,"Polyglandular Type I Autoimmune Syndrome | MONDO:0009411 | autoimmune polyendocrine syndrome type 1 | MeSH ID:D016884 | OMIM ID:240300 | UMLS ID:C0085859 | Polyendocrinopathies, Autoimmune" +BMGC_DS02804,BMG_DS003645,"OMIM ID:269200 | MONDO:0010012 | Autoimmune Syndrome Type II, Polyglandular | MeSH ID:D016884 | autoimmune polyendocrinopathy type 2 | UMLS ID:C0085860 | Polyendocrinopathies, Autoimmune" +BMGC_DS02805,BMG_DS003647,rheumatic heart disease | Rheumatic Heart Disease | UMLS ID:C0085916 | MeSH ID:D012214 | Bouillaud Disease | DOID:0050827 +BMGC_DS02806,BMG_DS003648,Brachial Neuralgia | Brachial Plexus Neuritis | MeSH ID:D020968 | UMLS ID:C0085920 +BMGC_DS02807,BMG_DS003652,"Dermatitis, Atopic | UMLS ID:C0086196 | Eczema, Infantile | MeSH ID:D003876" +BMGC_DS02808,BMG_DS003653,SNOMEDCT ID:154412007 | SNOMEDCT ID:266221005 | SNOMEDCT ID:266162007 | Enterobiasis - threadworm | MONDO:0005746 | UMLS ID:C0086227 | Infection by Enterobius vermicularis | Pinworm infection | Oxyuriasis | Infection by Enterobius vermicularis (disorder) | Enterobiasis | Enterobiosis | Threadworms | Threadworm infection | enterobiasis | Pinworm | Threadworms - enterobiasis | Enterobiasis (disorder) | MeSH ID:D017229 | SNOMEDCT ID:19722001 | Pinworm disease | ICD10 ID:B80 | (Threadworms &/or enterobiasis) or (pinworm) (disorder) | (Threadworms &/or enterobiasis) or (pinworm) +BMGC_DS02809,BMG_DS003654,"Epilepsy, Atonic | Epilepsy, Generalized | MeSH ID:D004829 | UMLS ID:C0086236" +BMGC_DS02810,BMG_DS003655,"Epilepsy, Cryptogenic | UMLS ID:C0086237 | Epilepsy | MeSH ID:D004827" +BMGC_DS02811,BMG_DS003657,"Epilepsy, Simple Partial | MeSH ID:D004828 | Epilepsies, Partial | UMLS ID:C0086240" +BMGC_DS02812,BMG_DS003658,"Epilepsy, Tonic | Epilepsy, Generalized | UMLS ID:C0086241 | MeSH ID:D004829" +BMGC_DS02813,BMG_DS003659,MeSH ID:D010488 | Polyarteritis Nodosa | UMLS ID:C0086254 | Essential Polyarteritis +BMGC_DS02814,BMG_DS003660,Primary Ovarian Insufficiency | MeSH ID:D016649 | UMLS ID:C0086367 | Gonadotropin-Resistant Ovary Syndrome +BMGC_DS02815,BMG_DS003661,"MeSH ID:D006103 | Granuloma, Lethal Midline | Granuloma Gangraenescens | UMLS ID:C0086370" +BMGC_DS02816,BMG_DS003662,Hereditary Sensory and Autonomic Neuropathies | MeSH ID:D009477 | DOID:0050548 | UMLS ID:C0086405 | Hereditary Sensory Radicular Neuropathy | hereditary sensory neuropathy +BMGC_DS02817,BMG_DS003663,MONDO:0011759 | Mucopolysaccharidosis I | Hurler-Scheie syndrome | DOID:0111389 | Hurler-Scheie Syndrome | MeSH ID:D008059 | UMLS ID:C0086431 | mucopolysaccharidosis Ih/s | OMIM ID:607015 +BMGC_DS02818,BMG_DS003664,"MeSH ID:D005923 | Hyalinosis, Segmental Glomerular | UMLS ID:C0086432 | Glomerulosclerosis, Focal Segmental" +BMGC_DS02819,BMG_DS003665,SNOMEDCT ID:119250001 | Hypogammaglobulinaemia | Hypogammaglobulinemia (finding) | DOID:2583 | UMLS ID:C0086438 | MeSH ID:D000361 | agammaglobulinemia | Hypogammaglobulinemia | OMIM ID:MTHU001684 | Agammaglobulinemia +BMGC_DS02820,BMG_DS003666,"OMIM ID:614692 | MeSH ID:D015433 | Glomerulonephritis, Membranous | idiopathic membranous glomerulonephritis | UMLS ID:C0086445 | MONDO:0013860 | Idiopathic Membranous Glomerulonephritis" +BMGC_DS02821,BMG_DS003667,"MeSH ID:D009783 | UMLS ID:C0086457 | Dermatitis, Occupational | Industrial Dermatosis" +BMGC_DS02822,BMG_DS003669,"MeSH ID:D016773 | UMLS ID:C0086540 | Leishmaniasis, New World | Leishmaniasis, Cutaneous" +BMGC_DS02823,BMG_DS003671,SNOMEDCT ID:193570009 | Cataract (disorder) | UMLS ID:C0086543 | Lenticular opacity | MONDO:0005129 | SNOMEDCT ID:62795009 | MeSH ID:D002386 | Cataract (morphologic abnormality) | Cataract | OMIM ID:MTHU004637 | Lens opacity | cataract | SNOMEDCT ID:128306009 | SNOMEDCT ID:155126003 +BMGC_DS02824,BMG_DS003674,Marasmus | SNOMEDCT ID:267495004 | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) | Kwashiokor | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) (disorder) | MeSH ID:D011502 | MONDO:0006848 | Insufficiency - dietary | Dietary deficiency | DOID:12328 | SNOMEDCT ID:154730001 | Kwashiorkor | marasmus | UMLS ID:C0086588 | Protein-Energy Malnutrition | Deficiency -nutritional | Nutritional deficiencies +BMGC_DS02825,BMG_DS003675,"MONDO:0024251 | UMLS ID:C0086626 | Minamata disease | Minamata Disease | MeSH ID:D020262 | Mercury Poisoning, Nervous System" +BMGC_DS02826,BMG_DS003676,OMIM ID:252900 | mucopolysaccharidosis type 3A | MONDO:0009655 | UMLS ID:C0086647 | DOID:0111395 | mucopolysaccharidosis type IIIA | Mucopolysaccharidosis III | MeSH ID:D009084 | Mucopolysaccharidosis Type IIIA +BMGC_DS02827,BMG_DS003677,UMLS ID:C0086648 | Mucopolysaccharidosis Type IIIB | DOID:0111394 | OMIM ID:252920 | Mucopolysaccharidosis III | mucopolysaccharidosis type IIIB | mucopolysaccharidosis type 3B | MeSH ID:D009084 | MONDO:0009656 +BMGC_DS02828,BMG_DS003678,MONDO:0009657 | DOID:0111393 | MPS III C | OMIM ID:252930 | mucopolysaccharidosis type IIIC | Mucopolysaccharidosis III | mucopolysaccharidosis type 3C | MeSH ID:D009084 | UMLS ID:C0086649 +BMGC_DS02829,BMG_DS003679,UMLS ID:C0086650 | OMIM ID:252940 | MPS III D | Mucopolysaccharidosis III | mucopolysaccharidosis type IIID | DOID:0111402 | MeSH ID:D009084 | mucopolysaccharidosis type 3D | MONDO:0009658 +BMGC_DS02830,BMG_DS003680,"MPS IV-A-Mucopolysaccharidosis IV-A | Mucopolysaccharidosis IV-A | DOID:0111391 | Galactosamine-6-sulphatase deficiency | OMIM ID:253000 | Mucopolysaccharidosis, MPS-IV-A | Morquio's syndrome, classic form | Galactose-6-sulphatase deficiency | Mucopolysaccharidosis IV-A (disorder) | N-acetylgalactosamine-6-sulphatase deficiency | mucopolysaccharidosis type 4A | UMLS ID:C0086651 | SNOMEDCT ID:7259005 | MONDO:0009659 | Morquio A syndrome | mucopolysaccharidosis IVA | Galactose-6-sulfatase deficiency | N-acetylgalactosamine-6-sulfatase deficiency | Morquio syndrome A | Galactosamine-6-sulfatase deficiency" +BMGC_DS02831,BMG_DS003681,"Morquio B syndrome | Morquio-like syndrome | UMLS ID:C0086652 | Mucopolysaccharidosis, MPS-IV-B | Morquio syndrome B | Mucopolysaccharidosis type IVB (disorder) | MONDO:0009660 | Mucopolysaccharidosis IV-B | mucopolysaccharidosis type 4B | mucopolysaccharidosis type IVB | MPS IV-B - Mucopolysaccharidosis IV-B | Mucopolysaccharidosis type IVB | SNOMEDCT ID:254075008 | SNOMEDCT ID:238044004 | DOID:0111392 | OMIM ID:253010" +BMGC_DS02832,BMG_DS003682,UMLS ID:C0086664 | DOID:0060326 | myelomeningocele +BMGC_DS02833,BMG_DS003683,"Myocardial Preinfarction Syndrome | MeSH ID:D000789 | UMLS ID:C0086666 | Angina, Unstable" +BMGC_DS02834,BMG_DS003684,UMLS ID:C0086692 | MONDO:0005165 | benign neoplasm +BMGC_DS02835,BMG_DS003685,UMLS ID:C0086743 | MeSH ID:D010003 | Osteoarthritis | Osteoarthrosis Deformans +BMGC_DS02836,BMG_DS003686,pancreatic cholera | MONDO:0004058 | UMLS ID:C0086768 | DOID:6977 +BMGC_DS02837,BMG_DS003687,paroxysmal nocturnal hemoglobinuria | paroxysmal cold hemoglobinuria | UMLS ID:C0086774 | MONDO:0019533 | DOID:0060284 +BMGC_DS02838,BMG_DS003689,UMLS ID:C0086795 | MONDO:0011758 | OMIM ID:607014 | Mucopolysaccharidosis I | Hurler syndrome | mucopolysaccharidosis Ih | MeSH ID:D008059 | DOID:0111390 | Pfaundler-Hurler Syndrome +BMGC_DS02839,BMG_DS003690,MeSH ID:D016523 | UMLS ID:C0086815 | Plantar Ulcer | Foot Ulcer +BMGC_DS02840,BMG_DS003691,Scarring alopecia due to other specified cause | Pseudopelade | Alopecia cicatrisata (disorder) | Pseudopelade (disorder) | Cicatricial alopecia | UMLS ID:C0086873 | Alopecia cicatrisata | SNOMEDCT ID:201151002 | ICD11 ID:ED70.5Y | MONDO:0015261 | ICD10 ID:L66.0 | SNOMEDCT ID:31471004 | Pseudopelade of Brocq | Alopecia | MeSH ID:D000505 | Scarring alopecia | SNOMEDCT ID:238731001 | pseudopelade of Brocq +BMGC_DS02841,BMG_DS003692,UMLS ID:C0086922 | Rheumatoid Purpura | IgA Vasculitis | MeSH ID:D011695 +BMGC_DS02842,BMG_DS003696,Sicca Syndrome | Sjogren's Syndrome | DOID:12894 | UMLS ID:C0086981 | Sjogren's syndrome | MeSH ID:D012859 +BMGC_DS02843,BMG_DS003697,"Ataxia, Spinocerebellar | MeSH ID:D020754 | UMLS ID:C0087012 | Spinocerebellar Ataxias | autosomal dominant cerebellar ataxia | DOID:1441" +BMGC_DS02844,BMG_DS003698,"Arthritis, Juvenile | Juvenile-Onset Still Disease | UMLS ID:C0087031 | MeSH ID:D001171" +BMGC_DS02845,BMG_DS003701,acute dacryoadenitis | UMLS ID:C0149505 | ICD10 ID:H04.01 | SNOMEDCT ID:2589008 | Acute dacryoadenitis | DOID:952 | Acute dacryoadenitis (disorder) | MONDO:0004812 +BMGC_DS02846,BMG_DS003702,chronic dacryocystitis | UMLS ID:C0149506 | MONDO:0004925 | SNOMEDCT ID:84627005 | Chronic dacryocystitis | Chronic inflammation of lacrimal passage (& [dacryocystitis]) | Chronic inflammation of lacrimal passage | Chronic inflammation of lacrimal passage (& [dacryocystitis]) (disorder) | SNOMEDCT ID:193990009 | Chronic dacryocystitis (disorder) | Dacryocystitis - chronic | DOID:9937 | ICD10 ID:H04.41 +BMGC_DS02847,BMG_DS003703,MONDO:0006881 | UMLS ID:C0149507 | DOID:11234 | Orbital Cellulitis | orbital cellulitis | MeSH ID:D054517 +BMGC_DS02848,BMG_DS003705,Acute sinusitis | Acute inflammation of nasal sinus | sinusitis | Acute inflammation of sinus | SNOMEDCT ID:155498004 | UMLS ID:C0149512 | DOID:0050127 | SNOMEDCT ID:15805002 | SNOMEDCT ID:195649005 | Sinusitis | ICD10 ID:J01 | Acute infection of sinus | Acute sinusitis (disorder) | Sinusitis (& acute) (disorder) | Sinusitis (& acute) +BMGC_DS02849,BMG_DS003706,Acute tracheitis (disorder) | DOID:9392 | ICD10 ID:J04.1 | UMLS ID:C0149513 | tracheitis | SNOMEDCT ID:155507000 | SNOMEDCT ID:26650005 | Acute tracheitis | ICD11 ID:CA05.1 +BMGC_DS02850,BMG_DS003707,Subacute bronchitis | Acute bronchitis (disorder) | Acute bronchitis | DOID:6132 | UMLS ID:C0149514 | bronchitis | Acute tracheobronchitis | Acute bronchitis (& wheezy) (disorder) | Tracheobronchitis - acute | SNOMEDCT ID:266380005 | Acute: [bronchitis] or [chest infections] or [tracheobronchitis] | SNOMEDCT ID:195713004 | Acute wheezy bronchitis | Acute bronchitis (& wheezy) | Bronchitis - acute | SNOMEDCT ID:155512004 | ICD10 ID:J20 | Acute: [bronchitis] or [chest infections] or [tracheobronchitis] (disorder) | SNOMEDCT ID:10509002 | Acute chest infections +BMGC_DS02851,BMG_DS003708,UMLS ID:C0149516 | chronic rhinosinusitis | SNOMEDCT ID:155525007 | Chronic infection of sinus | SNOMEDCT ID:40055000 | OMIM ID:MTHU037623 | MONDO:0006031 | Chronic sinusitis (disorder) | ICD10 ID:J32 | Chronic sinusitis +BMGC_DS02852,BMG_DS003709,SNOMEDCT ID:155530006 | DOID:10456 | Chronic tonsillitis | SNOMEDCT ID:90979004 | UMLS ID:C0149517 | Chronic tonsillitis (disorder) | (Chronic tonsillitis) or (chronic adenoiditis) | SNOMEDCT ID:195794009 | (Chronic tonsillitis) or (chronic adenoiditis) (disorder) | tonsillitis | Chronic adenoiditis | ICD10 ID:J35.01 +BMGC_DS02853,BMG_DS003711,"Hepatitis, Chronic | Chronic Persistent Hepatitis | hepatitis | DOID:2237 | UMLS ID:C0149519 | MeSH ID:D006521" +BMGC_DS02854,BMG_DS003713,"UMLS ID:C0149521 | chronic pancreatitis | MONDO:0005003 | Pancreatitis, Chronic | MeSH ID:D050500" +BMGC_DS02855,BMG_DS003715,MONDO:0001650 | Infectious cystitis | ICD11 ID:XT5R | SNOMEDCT ID:197833009 | DOID:13148 | ICD11 ID:GC00.1 | Recurrent acute cystitis | Acute cystitis (disorder) | SNOMEDCT ID:266628008 | Acute | ICD10 ID:N30.0 | SNOMEDCT ID:155883005 | UMLS ID:C0149523 | acute cystitis | Acute recurrent cystitis | Acute cystitis (& [recurrent]) | SNOMEDCT ID:68226007 | Acute cystitis (& [recurrent]) (disorder) | Acute cystitis +BMGC_DS02856,BMG_DS003717,Prostatic lithiasis | MONDO:0001776 | SNOMEDCT ID:85324003 | DOID:13689 | prostate calculus | ICD10 ID:N42.0 | Prostatic stone | SNOMEDCT ID:155934005 | UMLS ID:C0149525 | ICD11 ID:GA91.3 | Stone of prostate | Calculus of prostate | Calculus of prostate (disorder) +BMGC_DS02857,BMG_DS003718,Drug induced urticaria | Urticaria: [allergic] or [drug induced] (disorder) | ICD10 ID:L50.0 | MONDO:0006526 | DOID:10612 | Skin disease of unspecified nature | Allergic urticaria (disorder) | Allergic urticaria | ICD11 ID:EM0Z | UMLS ID:C0149526 | allergic urticaria | SNOMEDCT ID:201260002 | SNOMEDCT ID:156428000 | SNOMEDCT ID:40178009 | Urticaria: [allergic] or [drug induced] +BMGC_DS02858,BMG_DS003719,Congenital heart block | MeSH ID:C535758 | DOID:990 | SNOMEDCT ID:204381004 | SNOMEDCT ID:46619002 | Other specified structural developmental anomaly of heart or great vessels | ICD11 ID:LA8Y | UMLS ID:C0149530 | OMIM ID:234700 | MONDO:0009326 | Congenital heart block (disorder) | SNOMEDCT ID:156924006 | congenital heart block | ICD10 ID:Q24.6 +BMGC_DS02859,BMG_DS003721,"obsolete neurogenic bladder | Urinary Bladder, Neurogenic | Neurogenic Urinary Bladder, Atonic | UMLS ID:C0149622 | MONDO:0001445 | MeSH ID:D001750" +BMGC_DS02860,BMG_DS003725,MONDO:0006029 | cecum carcinoma | UMLS ID:C0149640 | DOID:1519 +BMGC_DS02861,BMG_DS003726,Cervical lymphadenitis | SNOMEDCT ID:3502005 | Cervical adenitis | UMLS ID:C0149642 | cervical adenitis | MONDO:0003067 | DOID:4637 | Cervical lymphadenitis (disorder) | cervical lymphadenitis +BMGC_DS02862,BMG_DS003728,"UMLS ID:C0149649 | MONDO:0005568 | Cholesterol Embolism | MeSH ID:D017700 | DOID:1461 | cholesterol embolism | Embolism, Cholesterol" +BMGC_DS02863,BMG_DS003731,MONDO:0005352 | conduct disorder | DOID:12995 | UMLS ID:C0149654 +BMGC_DS02864,BMG_DS003732,DOID:2978 | carbohydrate metabolic disorder | UMLS ID:C0149670 | carbohydrate metabolism disease | MONDO:0037792 | Disorder of carbohydrate metabolism (disorder) | SNOMEDCT ID:20957000 | Disorder of carbohydrate metabolism +BMGC_DS02865,BMG_DS003733,Epstein-Barr virus infectious disease | MeSH ID:D020031 | Epstein-Barr Virus Infections | UMLS ID:C0149678 | DOID:2938 | MONDO:0005111 | Epstein-Barr virus infection +BMGC_DS02866,BMG_DS003735,UMLS ID:C0149704 | SNOMEDCT ID:20607006 | (Chronic gingivitis) or (gingivostomatitis) | OMIM ID:MTHU070633 | SNOMEDCT ID:155644005 | SNOMEDCT ID:266490003 | Chronic gingivitis | (Chronic gingivitis) or (gingivostomatitis) (disorder) | Gingivostomatitis (disorder) | Gingivostomatitis +BMGC_DS02867,BMG_DS003736,"Left Ventricular Hypertrophy | UMLS ID:C0149721 | Hypertrophy, Left Ventricular | MeSH ID:D017379" +BMGC_DS02868,BMG_DS003737,SNOMEDCT ID:195745009 | Respiratory tract infection | Lower resp tract infection | Lower respiratory tract infection | Respiratory tract infection (& [acute lower] or [lower]) | Lower respiratory infection | UMLS ID:C0149725 | Chest cold | Lower respiratory tract infection (disorder) | LRTI - Lower respiratory tract infection | RTI - Respiratory tract infection | Respiratory tract infection (& [acute lower] or [lower]) (disorder) | Acute lower respiratory tract infection | SNOMEDCT ID:50417007 +BMGC_DS02869,BMG_DS003738,Oral Ulcer | MeSH ID:D019226 | UMLS ID:C0149745 +BMGC_DS02870,BMG_DS003740,"MeSH ID:D036981 | MONDO:0004833 | plantar fasciitis | Fasciitis, Plantar | DOID:9600 | UMLS ID:C0149756" +BMGC_DS02871,BMG_DS003746,SNOMEDCT ID:80423007 | Spontaneous pneumothorax | UMLS ID:C0149781 | SNOMEDCT ID:155610003 | Spontaneous pneumothorax (disorder) | OMIM ID:MTHU018164 +BMGC_DS02872,BMG_DS003747,UMLS ID:C0149782 | lung squamous cell carcinoma | DOID:3907 | MONDO:0005097 | squamous cell lung carcinoma +BMGC_DS02873,BMG_DS003754,UMLS ID:C0149825 | DOID:0060311 | Adenoidal hypertrophy | Adenoidal enlargement | adenoid hypertrophy | Enlargement of adenoids | Hypertrophy of adenoids | ICD11 ID:CA0F.1 | ICD10 ID:J35.2 | SNOMEDCT ID:111591002 | Hypertrophy of adenoids (disorder) +BMGC_DS02874,BMG_DS003760,bronchus adenoma | MONDO:0003427 | DOID:5391 | UMLS ID:C0149845 +BMGC_DS02875,BMG_DS003761,SNOMEDCT ID:221695002 | UMLS ID:C0149846 | ICD10 ID:M76.6 | Achillobursitis | Albert's syndrome | SNOMEDCT ID:202879008 | Haglund's deformity | Swediaur's disease | DOID:12857 | Achilles bursitis | ICD11 ID:FB40.Y | Other specified tenosynovitis | Calcaneal osteochondritis | Capped hock | Bursitis of calcaneal tendon bursa (disorder) | SNOMEDCT ID:87494005 | MONDO:0001594 | Achilles bursitis (disorder) | Bursitis of calcaneal tendon bursa +BMGC_DS02876,BMG_DS003766,MeSH ID:D003440 | Croup | UMLS ID:C0149869 | Spasmodic Croup +BMGC_DS02877,BMG_DS003767,De Quervain Disease | UMLS ID:C0149870 | De Quervain disease | DOID:14107 | de Quervain disease | MeSH ID:D053684 | MONDO:0006721 +BMGC_DS02878,BMG_DS003768,UMLS ID:C0149871 | MeSH ID:D020246 | Venous Thrombosis | Deep Vein Thrombosis +BMGC_DS02879,BMG_DS003770,hypoglycemic encephalopathy | MeSH ID:C000721848 | UMLS ID:C0149877 +BMGC_DS02880,BMG_DS003773,SNOMEDCT ID:197983000 | Inflammation of testis and epididymis | SNOMEDCT ID:155915005 | Epididymo-orchitis (disorder) | DOID:9401 | ICD10 ID:N45.3 | Epididymo-orchitis | epididymo-orchitis | SNOMEDCT ID:24084007 | MONDO:0004778 | Orchitis and epididymitis (disorder) | Orchitis and epididymitis | UMLS ID:C0149881 +BMGC_DS02881,BMG_DS003775,"UMLS ID:C0149886 | Seizure, Febrile, Simple | Seizures, Febrile | MeSH ID:D003294" +BMGC_DS02882,BMG_DS003776,OMIM ID:182260 | MeSH ID:D060048 | MONDO:0018382 | UMLS ID:C0149887 | epiphysiolysis of the hip | Slipped Capital Femoral Epiphyses +BMGC_DS02883,BMG_DS003778,OMIM ID:MTHU048421 | SNOMEDCT ID:95717004 | UMLS ID:C0149893 | Secondary glaucoma | Glaucoma due to ocular disease | Secondary glaucoma (disorder) +BMGC_DS02884,BMG_DS003780,Cholestatic hepatitis | UMLS ID:C0149904 | SNOMEDCT ID:95556007 | OMIM ID:MTHU070763 | Cholestatic hepatitis (disorder) +BMGC_DS02885,BMG_DS003783,HHM - humoral hypercalcemia of malignancy | Hypercalcaemia of malignancy | MONDO:0043455 | humoral hypercalcemia of malignancy | SNOMEDCT ID:47709007 | Malignancy associated hypercalcemia | UMLS ID:C0149911 | Humoural hypercalcaemia of malignancy | Malignant hypercalcaemia | MAHC - malignancy associated hypercalcaemia | MAHC - malignancy associated hypercalcemia | Humoral hypercalcemia of malignancy | Hypercalcemia of malignancy | HHM - humoral hypercalcaemia of malignancy | Malignancy associated hypercalcaemia | Malignant hypercalcemia | Humoral hypercalcemia of malignancy (disorder) +BMGC_DS02886,BMG_DS003784,Lichen Simplex Chronicus | Neurodermatitis | MeSH ID:D009450 | UMLS ID:C0149922 +BMGC_DS02887,BMG_DS003785,UMLS ID:C0149925 | small cell lung carcinoma | OMIM ID:182280 | lung small cell carcinoma | MONDO:0008433 | DOID:5409 +BMGC_DS02888,BMG_DS003787,UMLS ID:C0149931 | migraine disorder | MeSH ID:D008881 | Migraine Disorders | DOID:6364 | MONDO:0005277 | migraine +BMGC_DS02889,BMG_DS003788,obstructive nephropathy | UMLS ID:C0149939 | Obstructive nephropathy | DOID:0070314 | Obstructive nephropathy (disorder) | MONDO:0056796 | SNOMEDCT ID:86249007 +BMGC_DS02890,BMG_DS003789,MeSH ID:D020426 | UMLS ID:C0149940 | DOID:11446 | Sciatic Neuropathy | sciatic neuropathy | MONDO:0006960 +BMGC_DS02891,BMG_DS003791,MONDO:0001051 | UMLS ID:C0149948 | Acute otitis externa | acute otitis externa | SNOMEDCT ID:30250000 | Acute otitis externa (disorder) +BMGC_DS02892,BMG_DS003792,ovarian fibroma | OMIM ID:166970 | UMLS ID:C0149951 | MONDO:0008168 +BMGC_DS02893,BMG_DS003793,MONDO:0008183 | DOID:0060850 | OMIM ID:167750 | annular pancreas | UMLS ID:C0149955 +BMGC_DS02894,BMG_DS003799,Gonorrhea of pharynx (disorder) | Gonorrhea of pharynx | UMLS ID:C0149966 | Gonorrhoea of pharynx | Gonococcal pharyngitis | SNOMEDCT ID:74372003 +BMGC_DS02895,BMG_DS003803,MONDO:0002169 | DOID:1996 | rectum adenocarcinoma | UMLS ID:C0149978 +BMGC_DS02896,BMG_DS003806,"MeSH ID:C536773 | UMLS ID:C0149985 | secondary syphilis | Syphilis, secondary | DOID:4157 | MONDO:0002897" +BMGC_DS02897,BMG_DS003816,UMLS ID:C0151293 | Chronic Headache | MeSH ID:D020773 | Headache Disorders +BMGC_DS02898,BMG_DS003817,DOID:1835 | Mononeuropathies | mononeuritis multiplex | UMLS ID:C0151295 | MeSH ID:D020422 | MONDO:0002128 | Mononeuritis Multiplex +BMGC_DS02899,BMG_DS003818,DOID:3817 | Cranial nerve palsies | UMLS ID:C0151311 | cranial nerve palsy | OMIM ID:MTHU005584 | MONDO:0002782 +BMGC_DS02900,BMG_DS003819,Sensory neuropathy | SNOMEDCT ID:95662005 | OMIM ID:MTHU001836 | DOID:2491 | Sensory neuropathy (disorder) | MONDO:0002321 | UMLS ID:C0151313 | sensory peripheral neuropathy +BMGC_DS02901,BMG_DS003820,UMLS ID:C0151317 | Chronic Infection | MeSH ID:D000088562 | Persistent Infection +BMGC_DS02902,BMG_DS003822,UMLS ID:C0151332 | SNOMEDCT ID:427099000 | MONDO:0100481 | Active tuberculosis | active tuberculosis | Active tuberculosis (disorder) +BMGC_DS02903,BMG_DS003825,"Vasculitis, Leukocytoclastic, Cutaneous | MONDO:0001290 | UMLS ID:C0151436 | hypersensitivity vasculitis | MeSH ID:D018366 | allergic cutaneous vasculitis | DOID:9809" +BMGC_DS02904,BMG_DS003832,Severe adrenal insufficiency (disorder) | Acute adrenal failure | ICD10 ID:E27.2 | SNOMEDCT ID:766986002 | Adrenal crisis | acute adrenal insufficiency | ICD11 ID:5A74.1 | Acute adrenocortical insufficiency | Corticoadrenal insufficiency | SNOMEDCT ID:190522002 | Acute adrenal insufficiency (disorder) | Corticoadrenal insufficiency (& Addison's [disease] or [crisis]) (disorder) | SNOMEDCT ID:237757001 | Acute adrenal insufficiency | SNOMEDCT ID:154707007 | SNOMEDCT ID:267483004 | SNOMEDCT ID:190526004 | Acute adrenal insufficiency (& [Addisonian crisis] or [adrenal crisis]) | Adrenocortical crisis | OMIM ID:MTHU058969 | Addisonian crisis | UMLS ID:C0151467 | Addison's disease | MONDO:0019801 | Severe adrenal insufficiency | Addisonian crisis (disorder) | Acute adrenal insufficiency (& [Addisonian crisis] or [adrenal crisis]) (disorder) | SNOMEDCT ID:24867002 | Corticoadrenal insufficiency (& Addison's [disease] or [crisis]) +BMGC_DS02905,BMG_DS003833,thyroid adenoma | DOID:2891 | UMLS ID:C0151468 +BMGC_DS02906,BMG_DS003834,Hypochloremic alkalosis | SNOMEDCT ID:70134007 | UMLS ID:C0151476 | Hypochloraemic alkalosis | Hypochloremic alkalosis (disorder) +BMGC_DS02907,BMG_DS003835,Megaloblastic anaemia due to folate deficiency | Folate deficiency anemia | Folate deficiency anaemia | Megaloblastic anemia due to folate deficiency (disorder) | SNOMEDCT ID:85649008 | MONDO:0001860 | Megaloblastic anemia due to folate deficiency | Folic acid deficiency anemia | DOID:14026 | Folic acid deficiency anaemia | UMLS ID:C0151482 | folic acid deficiency anemia +BMGC_DS02908,BMG_DS003837,MONDO:0006610 | Atrophic skin | Skin atrophy | Atrophy of skin | UMLS ID:C0151514 | Atrophic condition of skin (disorder) | SNOMEDCT ID:16343004 | SNOMEDCT ID:400190005 | DOID:2733 | Atrophic condition of skin | skin atrophy | Atrophoderma +BMGC_DS02909,BMG_DS003838,Thyroid Hypoplasia | MONDO:0019861 | Thyroid Dysgenesis | thyroid hypoplasia | MeSH ID:D050033 | UMLS ID:C0151516 +BMGC_DS02910,BMG_DS003839,High grade atrioventricular block | Complete atrioventricular block | SNOMEDCT ID:27885002 | Third degree heart block | SNOMEDCT ID:195063000 | Complete heart block | CHB - Complete heart block | third-degree atrioventricular block | Complete atrioventricular block (disorder) | MONDO:0000468 | UMLS ID:C0151517 | SNOMEDCT ID:155355004 | Third degree atrioventricular block +BMGC_DS02911,BMG_DS003841,digestive system carcinoma | MONDO:0006181 | UMLS ID:C0151544 +BMGC_DS02912,BMG_DS003843,Central nervous system depression (disorder) | SNOMEDCT ID:418072004 | UMLS ID:C0151559 | Central nervous system depression +BMGC_DS02913,BMG_DS003848,Bloody diarrhea | SNOMEDCT ID:95545007 | Hemorrhagic diarrhea | Haemorrhagic diarrhoea | Bloody diarrhoea | UMLS ID:C0151594 | Hemorrhagic diarrhea (disorder) +BMGC_DS02914,BMG_DS003849,Hypertensive Encephalopathy | hypertensive encephalopathy | UMLS ID:C0151620 | DOID:9427 | MONDO:0006796 | MeSH ID:D020343 +BMGC_DS02915,BMG_DS003850,Endometrial disorder | SNOMEDCT ID:418632009 | endometrial disease | DOID:1005 | MONDO:0000931 | UMLS ID:C0151622 | endometrial disorder | Endometrial disorder (disorder) +BMGC_DS02916,BMG_DS003852,OMIM ID:MTHU042669 | Premature ventricular contractions | UMLS ID:C0151636 +BMGC_DS02917,BMG_DS003853,MeSH ID:C536855 | Fanconi like syndrome | MONDO:0009217 | UMLS ID:C0151638 | Fanconi-like syndrome | OMIM ID:227850 | DOID:0090066 +BMGC_DS02918,BMG_DS003854,UMLS ID:C0151650 | Renal fibrosis (disorder) | renal fibrosis | SNOMEDCT ID:197660000 | OMIM ID:MTHU073879 | MONDO:0000494 | Renal fibrosis +BMGC_DS02919,BMG_DS003857,Gastrointestinal perforation | UMLS ID:C0151664 | SNOMEDCT ID:51875005 | Gastrointestinal perforation (disorder) +BMGC_DS02920,BMG_DS003859,UMLS ID:C0151691 | MONDO:0017773 | hypoalphalipoproteinemia +BMGC_DS02921,BMG_DS003860,Hypermagnesemia | Hypermagnesemia (disorder) | Hypermagnesaemia | UMLS ID:C0151714 | SNOMEDCT ID:66978005 | ICD10 ID:E83.41 +BMGC_DS02922,BMG_DS003861,Hypocholesterolemia (disorder) | Hypocholesterolaemia | Hypocholesterolemia | Hypocholesteraemia | OMIM ID:MTHU009711 | Hypocholesteremia | UMLS ID:C0151718 | SNOMEDCT ID:61336008 +BMGC_DS02923,BMG_DS003862,"UMLS ID:C0151721 | Male hypogonadism | Eunuchoidism | Other testicular hypofunction | hypogonadism, male | (Hypogonadism: [eunuchoidism] or [testicular]) or (other testicular hypofunction) | Primary male hypogonadism | Testicular hypogonadism | Eunuchoidism hypogonadism | Eunuchoidism, hypogonadism | SNOMEDCT ID:30187002 | SNOMEDCT ID:48723006 | MONDO:0009421 | (Hypogonadism: [eunuchoidism] or [testicular]) or (other testicular hypofunction) (disorder) | Primary gonadal failure | Testicular failure | OMIM ID:241100 | SNOMEDCT ID:190557004 | Male hypogonadism (disorder) | Testicular hypogonadism (disorder)" +BMGC_DS02924,BMG_DS003863,SNOMEDCT ID:190855004 | MONDO:0018100 | ICD10 ID:E83.42 | UMLS ID:C0151723 | Hypomagnesemia | Hypomagnesemia (disorder) | OMIM ID:MTHU036920 | SNOMEDCT ID:82020005 | familial primary hypomagnesemia | Hypomagnesaemia +BMGC_DS02925,BMG_DS003864,MONDO:0001787 | hepatic infarction | MeSH ID:D000081011 | Hepatic Infarction | DOID:13738 | UMLS ID:C0151731 +BMGC_DS02926,BMG_DS003865,MONDO:0006810 | DOID:9428 | intracranial hypertension | UMLS ID:C0151740 +BMGC_DS02927,BMG_DS003866,UMLS ID:C0151744 | myocardial ischemia | Myocardial Ischemia | MONDO:0024644 | coronary artery disease | MeSH ID:D017202 | DOID:3393 +BMGC_DS02928,BMG_DS003867,Renal tubular disorder | Renal tubular disorder (disorder) | MONDO:0021568 | renal tubule disorder | UMLS ID:C0151747 | SNOMEDCT ID:95568003 +BMGC_DS02929,BMG_DS003868,Hypoplasia of bone marrow (disorder) | Medullary hypoplasia | Bone marrow depression | Bone marrow depression (disorder) | Bone marrow failure | SNOMEDCT ID:58642009 | SNOMEDCT ID:307762000 | SNOMEDCT ID:191398002 | Hypoplasia of bone marrow | UMLS ID:C0151773 +BMGC_DS02930,BMG_DS003869,DOID:8923 | MONDO:0005012 | skin melanoma | cutaneous melanoma | UMLS ID:C0151779 +BMGC_DS02931,BMG_DS003870,Mucosal disease | Mucous membrane disorder | Disorder of mucous membrane (disorder) | Disorder of mucous membrane | Disease of mucosa | Disease of mucous membrane | UMLS ID:C0151785 | SNOMEDCT ID:95351003 +BMGC_DS02932,BMG_DS003873,Liver necrosis | OMIM ID:MTHU012736 | Hepatic necrosis | SNOMEDCT ID:87248009 | Hepatic necrosis (disorder) | UMLS ID:C0151798 +BMGC_DS02933,BMG_DS003874,Coronary Occlusion | UMLS ID:C0151814 | MeSH ID:D054059 +BMGC_DS02934,BMG_DS003875,Perforated corneal ulcer (disorder) | ICD10 ID:H16.07 | MONDO:0001038 | perforated corneal ulcer | Perforated corneal ulcer | DOID:10445 | SNOMEDCT ID:46606001 | UMLS ID:C0151844 +BMGC_DS02935,BMG_DS003877,SNOMEDCT ID:91454002 | Pleocytosis of cerebrospinal fluid | UMLS ID:C0151857 | Leukocytosis | Pleocytosis of cerebrospinal fluid (finding) | MeSH ID:D007964 | Pleocytosis +BMGC_DS02936,BMG_DS003880,Hematoporphyrinuria | Porphyruria | Porphyruria (disorder) | SNOMEDCT ID:44574006 | Haematoporphyrinuria | Pink tooth | UMLS ID:C0151861 | Porphyrinuria +BMGC_DS02937,BMG_DS003881,SNOMEDCT ID:23288008 | SNOMEDCT ID:173300003 | Disease of pregnancy (disorder) | pregnancy disorder | MONDO:0024575 | placenta disease | SNOMEDCT ID:172422001 | Disorder of pregnancy | UMLS ID:C0151864 | Disorder of pregnancy (disorder) | Disease of pregnancy | DOID:780 +BMGC_DS02938,BMG_DS003883,SNOMEDCT ID:63741006 | UMLS ID:C0151874 | Fungal infection of lung | Pulmonary mycosis | Fungal infection of lung (disorder) +BMGC_DS02939,BMG_DS003885,MONDO:0007774 | UMLS ID:C0151889 | hyperreflexia | OMIM ID:145290 +BMGC_DS02940,BMG_DS003888,Hypocalcaemic tetany | OMIM ID:MTHU019662 | SNOMEDCT ID:190869004 | UMLS ID:C0151940 | Hypocalcemic tetany | Hypocalcemic tetany (disorder) +BMGC_DS02941,BMG_DS003889,SNOMEDCT ID:95455008 | Thrombosis of cerebral veins | UMLS ID:C0151945 | Cerebral vein thrombosis | Thrombosis of cerebral veins (disorder) | Cerebral venous thrombosis +BMGC_DS02942,BMG_DS003895,"esophageal ulcer | Peptic ulcer of esophagus | Oesophageal ulcer, unspecified | MONDO:0044782 | Peptic ulcer of oesophagus | SNOMEDCT ID:155674002 | UMLS ID:C0151970 | Peptic ulceration of oesophagus | SNOMEDCT ID:30811009 | OU - Oesophageal ulcer | Ulcer of oesophagus | Ulcer of oesophagus (disorder) | Oesophageal ulcer | ICD10 ID:K22.1 | OU - Esophageal ulcer | Ulcer of esophagus (disorder) | Peptic ulceration of esophagus | Ulcer of esophagus | Esophageal ulcer | ICD11 ID:DA25.Z" +BMGC_DS02943,BMG_DS003896,SNOMEDCT ID:85942002 | Ulceration of intestine (disorder) | Ulceration of intestine | UMLS ID:C0151971 +BMGC_DS02944,BMG_DS003900,DOID:3910 | lung adenocarcinoma | MONDO:0005061 | UMLS ID:C0152013 +BMGC_DS02945,BMG_DS003902,DOID:1107 | MONDO:0019086 | esophageal carcinoma | carcinoma of esophagus | UMLS ID:C0152018 +BMGC_DS02946,BMG_DS003903,ICD10 ID:K31.84 | gastroparesis | Gastroparesis syndrome | Gastroparesis | Gastric atony | OMIM ID:MTHU005170 | UMLS ID:C0152020 | Gastric stasis | MONDO:0006769 | Gastroparesis (disorder) | SNOMEDCT ID:235675006 | DOID:11914 | MeSH ID:D018589 +BMGC_DS02947,BMG_DS003904,congenital heart disease | MONDO:0005453 | UMLS ID:C0152021 +BMGC_DS02948,BMG_DS003906,DOID:1389 | SNOMEDCT ID:267706009 | SNOMEDCT ID:155080009 | Acquired polyneuropathy | MeSH ID:D011115 | Polyneuropathies | SNOMEDCT ID:42345000 | SNOMEDCT ID:193166009 | Neuropathy: [peripheral] or [polyneuropathy] | Peripheral neuropathy | Polyneuropathy (multiple nerve disorder) | MONDO:0001824 | OMIM ID:MTHU038003 | Polyneuropathy (disorder) | polyneuropathy | Polyneuropathy | UMLS ID:C0152025 | ICD10 ID:A69.22 | Neuropathy: [peripheral] or [polyneuropathy] (disorder) +BMGC_DS02949,BMG_DS003907,MONDO:0006950 | UMLS ID:C0152026 | MeSH ID:D031300 | retinal vasculitis | DOID:11563 | Retinal Vasculitis +BMGC_DS02950,BMG_DS003908,Sensory Disorders | MeSH ID:D012678 | UMLS ID:C0152027 | Sensation Disorders +BMGC_DS02951,BMG_DS003910,louse-borne relapsing fever | Relapsing Fever | DOID:13035 | MONDO:0001620 | Borrelia recurrentis Infection | MeSH ID:D012061 | UMLS ID:C0152061 +BMGC_DS02952,BMG_DS003913,Cutaneous lobomycosis | DOID:13026 | lobomycosis | Infection by Paracoccidioides loboii | ICD11 ID:1F2B | Lobo's disease | Lobomycosis | ICD10 ID:B48.0 | SNOMEDCT ID:47306003 | UMLS ID:C0152066 | Keloidal blastomycosis | Infection by Loboa loboii | MONDO:0001616 | Lobomycosis (disorder) | MeSH ID:D060368 | Cheloidal blastomycosis | Lobomycosis infection +BMGC_DS02953,BMG_DS003914,MONDO:0004677 | MeSH ID:C000656904 | tinea nigra | DOID:8912 | UMLS ID:C0152067 +BMGC_DS02954,BMG_DS003915,echinococcus granulosus infectious disease | cystic echinococcosis | Unilocular hydatid disease | Echinococcus granulosus infection | SNOMEDCT ID:75006000 | DOID:1495 | MONDO:0044346 | Echinococcus granulosus infection (disorder) | UMLS ID:C0152068 +BMGC_DS02955,BMG_DS003916,DOID:12148 | SNOMEDCT ID:21009004 | Echinococcus multilocularis infection | MONDO:0017282 | Echinococcus multilocularis infection (disorder) | Alveolar hydatid disease | alveolar echinococcosis | UMLS ID:C0152069 +BMGC_DS02956,BMG_DS003918,SNOMEDCT ID:22905009 | Infection caused by Heterophyes heterophyes | Infection by Heterophyes heterophyes | Heterophyosis | MONDO:0004662 | heterophyiasis | DOID:882 | Infection caused by Heterophyes heterophyes (disorder) | Heterophyiasis | Heterophyes heterophyes infection | UMLS ID:C0152071 +BMGC_DS02957,BMG_DS003919,Ovale malaria (disorder) | DOID:12919 | SNOMEDCT ID:19341001 | MONDO:0001601 | Malaria by Plasmodium ovale | Plasmodium ovale malaria | UMLS ID:C0152072 | Ovale tertian malaria | Ovale malaria +BMGC_DS02958,BMG_DS003920,DOID:0050596 | Taenia saginata infection | Infection by Taenia saginata | Taenia saginata infection (disorder) | UMLS ID:C0152073 | taeniasis | Taenia saginata taeniasis | Unarmed tapeworm infection | Beef tapeworm infection | SNOMEDCT ID:69163003 +BMGC_DS02959,BMG_DS003922,Dyshormonogenic goitre | UMLS ID:C0152077 | MONDO:0001460 | DOID:12175 | Dyshormonogenic goiter | SNOMEDCT ID:190304001 | dyshormonogenic goiter | Dyshormonogenic goiter (disorder) +BMGC_DS02960,BMG_DS003923,Congestion-fibrosis syndrome | Taylor's syndrome | DOID:9346 | UMLS ID:C0152078 | Pelvic congestion syndrome | Taylor syndrome | SNOMEDCT ID:39402007 | Pelvic congestion syndrome (disorder) | MONDO:0004762 | Pelvic congestion | SNOMEDCT ID:156027002 +BMGC_DS02961,BMG_DS003924,DOID:14133 | MONDO:0001887 | Allen-Masters syndrome | SNOMEDCT ID:69186005 | Broad ligament laceration syndrome (disorder) | Masters-Allen syndrome | Broad ligament laceration syndrome | Ligamentum latum laceration syndrome | UMLS ID:C0152079 +BMGC_DS02962,BMG_DS003925,SNOMEDCT ID:200901002 | Pustular psoriasis | pustular psoriasis | SNOMEDCT ID:200973000 | MONDO:0022205 | UMLS ID:C0152081 | OMIM ID:MTHU068352 | Pustular psoriasis (disorder) +BMGC_DS02963,BMG_DS003926,ICD10 ID:M12.8 | DOID:2092 | transient arthritis | Transient arthropathy | Transient arthropathy (disorder) | MONDO:0001429 | UMLS ID:C0152083 | SNOMEDCT ID:66191007 | transient arthropathy | Certain specified inflammatory arthropathies | ICD11 ID:FA27 +BMGC_DS02964,BMG_DS003927,Chronic post - rheumatic arthropathy | Jaccoud's syndrome (disorder) | Jaccoud syndrome | Jaccoud's syndrome | Chronic postrheumatic arthropathy | Jaccoud's disease | DOID:13080 | UMLS ID:C0152084 | SNOMEDCT ID:84801008 | Jaccoud's arthritis | MONDO:0001629 | Non-deforming erosive arthropathy +BMGC_DS02965,BMG_DS003928,reactive arthritis | UMLS ID:C0152085 | DOID:6196 +BMGC_DS02966,BMG_DS003930,UMLS ID:C0152088 | Kümmell's spondylitis | Kümmell disease | DOID:6603 | Traumatic spondylopathy (disorder) | Traumatic spondylopathy | Kummell-Verneuil disease | Kummell disease | SNOMEDCT ID:240218006 | Kummell's disease | SNOMEDCT ID:111232005 | Kümmell-Verneuil disease | Kümmell disease (disorder) | ICD11 ID:FA72.2 | ICD10 ID:M48.3 | MONDO:0003940 | Kummell's spondylitis +BMGC_DS02967,BMG_DS003934,Juvenile: [dermatitis herpetiformis] or [pemphigoid] (disorder) | ICD11 ID:EB42 | SNOMEDCT ID:200900001 | UMLS ID:C0152092 | Linear IgA bullous dermatosis | SNOMEDCT ID:267799009 | DOID:8507 | SNOMEDCT ID:5906000 | Juvenile dermatitis herpetiformis | juvenile dermatitis herpetiformis | Juvenile pemphigoid | ICD10 ID:L12.2 | Juvenile dermatitis herpetiformis (disorder) | Juvenile: [dermatitis herpetiformis] or [pemphigoid] | MONDO:0006565 +BMGC_DS02968,BMG_DS003935,ICD10 ID:M35.7 | ICD11 ID:LD28.1Y | DOID:13781 | SNOMEDCT ID:85551004 | Hypermobility syndrome | Familial ligamentous laxity | MONDO:0001798 | hypermobility syndrome | Other specified types of EhlersDanlos syndrome | UMLS ID:C0152093 | Hypermobility syndrome (disorder) +BMGC_DS02969,BMG_DS003936,ICD11 ID:4A01.30 | Nezelof's syndrome | DOID:2012 | SNOMEDCT ID:55602000 | MONDO:0009451 | OMIM ID:242700 | ICD10 ID:D81.4 | Immunodeficiency due to defects of the thymus | Nezelof syndrome | UMLS ID:C0152094 | Congenital thymic dysplasia syndrome | Nezelof's syndrome (disorder) +BMGC_DS02970,BMG_DS003937,MONDO:0018068 | Complete trisomy 13 syndrome (disorder) | D>1< trisomy syndrome | SNOMEDCT ID:21111006 | Complete trisomy 13 syndrome | DOID:11665 | Patau syndrome | trisomy 13 | UMLS ID:C0152095 +BMGC_DS02971,BMG_DS003939,diaphragm disease | UMLS ID:C0152097 | MONDO:0005728 | Disorder of diaphragm (disorder) | Diaphragmatic disease | Disorder of diaphragm | DOID:10481 | Disease of diaphragm | Diaphragmatic disorder | diaphragm disorder | SNOMEDCT ID:48475001 +BMGC_DS02972,BMG_DS003940,UMLS ID:C0152099 | MeSH ID:D017562 | MONDO:0006916 | Postcholecystectomy Syndrome | postcholecystectomy syndrome | DOID:9740 +BMGC_DS02973,BMG_DS003941,DOID:9955 | hypoplastic left heart syndrome | Hypoplastic Left Heart Syndrome | UMLS ID:C0152101 | MONDO:0004933 | MeSH ID:D018636 +BMGC_DS02974,BMG_DS003942,ICD10 ID:I27.1 | SNOMEDCT ID:45650007 | Kyphoscoliotic heart disease (disorder) | SNOMEDCT ID:194886003 | kyphoscoliotic heart disease | UMLS ID:C0152102 | Other specified diseases of the circulatory system | MONDO:0001492 | Kyphoscoliotic heart disease | DOID:12325 | ICD11 ID:BE2Y +BMGC_DS02975,BMG_DS003943,Hypertensive heart disease | SNOMEDCT ID:155297007 | Hypertensive cardiopathy | hypertensive heart disease | MONDO:0001302 | UMLS ID:C0152105 | SNOMEDCT ID:64715009 | DOID:11516 | HHD - hypertensive heart disease | ICD10 ID:I11 | Hypertensive cardiovascular disease | Hypertensive heart disease (disorder) +BMGC_DS02976,BMG_DS003944,Dressler syndrome | SNOMEDCT ID:66189004 | Postmyocardial infarction syndrome (disorder) | UMLS ID:C0152107 | MONDO:0001049 | Dressler's syndrome | Postmyocardial infarction syndrome | ICD11 ID:BA60.0 | DOID:10507 | ICD10 ID:I24.1 | Post-myocardial infarction syndrome +BMGC_DS02977,BMG_DS003945,UMLS ID:C0152108 | ICD10 ID:J67.3 | Cork-handlers' disease | SNOMEDCT ID:13394002 | cork-handlers' disease | Suberosis | Cork-handlers' hypersensitivity pneumonitis | MONDO:0004549 | ICD11 ID:CA70.3 | Suberosis (disorder) | Cork-handlers' lung | DOID:840 +BMGC_DS02978,BMG_DS003946,"spinal muscular atrophy, type III | juvenile spinal muscular atrophy | Spinal Muscular Atrophies of Childhood | DOID:12376 | UMLS ID:C0152109 | OMIM ID:253400 | MONDO:0009672 | MeSH ID:D014897 | Juvenile Spinal Muscular Atrophy" +BMGC_DS02979,BMG_DS003948,UMLS ID:C0152112 | MONDO:0001998 | DOID:14555 | MeSH ID:D009901 | Foster-Kennedy syndrome | Optic Nerve Diseases | Foster-Kennedy Syndrome +BMGC_DS02980,BMG_DS003949,Chorea | Sydenham chorea | MONDO:0017648 | Rheumatic Chorea | MeSH ID:D002819 | UMLS ID:C0152113 +BMGC_DS02981,BMG_DS003950,MeSH ID:D020820 | DOID:9854 | UMLS ID:C0152115 | Dyskinesias | Lingual-Facial-Buccal Dyskinesia | MONDO:0004901 | lingual-facial-buccal dyskinesia +BMGC_DS02982,BMG_DS003951,MONDO:0000481 | cervical dystonia | UMLS ID:C0152116 +BMGC_DS02983,BMG_DS003953,Drug withdrawal syndrome | UMLS ID:C0152128 | SNOMEDCT ID:18159001 | Drug withdrawal | SNOMEDCT ID:363101005 | Drug withdrawal (disorder) | SNOMEDCT ID:154856000 | Drug withdrawal syndrome (disorder) +BMGC_DS02984,BMG_DS003954,solar retinopathy | Foveomacular Retinitis | DOID:11282 | Solar Retinitis | MeSH ID:D000099070 | UMLS ID:C0152131 +BMGC_DS02985,BMG_DS003955,MONDO:0006797 | MeSH ID:D058437 | DOID:11561 | UMLS ID:C0152132 | Hypertensive Retinopathy | hypertensive retinopathy +BMGC_DS02986,BMG_DS003956,MONDO:0003417 | Ocular Motility Disorders | Internuclear Ophthalmoplegia | internuclear ophthalmoplegia | MeSH ID:D015835 | DOID:538 | UMLS ID:C0152134 +BMGC_DS02987,BMG_DS003957,UMLS ID:C0152135 | DOID:13135 | exophthalmic ophthalmoplegia | Exophthalmic ophthalmoplegia | MONDO:0001643 | Exophthalmic ophthalmoplegia (disorder) | SNOMEDCT ID:69763009 +BMGC_DS02988,BMG_DS003958,low tension glaucoma | MeSH ID:D057066 | Low Tension Glaucoma | DOID:13544 | UMLS ID:C0152136 | MONDO:0006837 +BMGC_DS02989,BMG_DS003959,UMLS ID:C0152137 | Phacolytic glaucoma | phacolytic glaucoma | MONDO:0001553 | DOID:12570 | SNOMEDCT ID:32893002 | Phacolytic glaucoma (disorder) +BMGC_DS02990,BMG_DS003960,Glaucomatocyclitic crisis (disorder) | glaucomatocyclitic crisis | Glaucomatocyclitic crisis | SNOMEDCT ID:29538005 | Posner-Schlossman syndrome | MONDO:0004772 | DOID:9378 | UMLS ID:C0152138 | Terrien-Viel syndrome +BMGC_DS02991,BMG_DS003962,UMLS ID:C0152163 | pylorospasm | MONDO:0001428 | OMIM ID:MTHU077351 | SNOMEDCT ID:335002 | DOID:12072 | Pylorospasm (disorder) | Pylorospasm +BMGC_DS02992,BMG_DS003963,SNOMEDCT ID:18773000 | Periodic vomiting | OMIM ID:500007 | Periodic vomiting syndrome | Cyclical vomiting syndrome (disorder) | UMLS ID:C0152164 | Cyclical vomiting | cyclic vomiting syndrome | Cyclical vomiting syndrome | MONDO:0010778 +BMGC_DS02993,BMG_DS003964,SNOMEDCT ID:54576000 | Pancreatic steatorrhea (disorder) | MONDO:0001079 | ICD11 ID:DC35.2 | Pancreatic steatorrhea | DOID:10610 | UMLS ID:C0152166 | SNOMEDCT ID:155845009 | pancreatic steatorrhea | ICD10 ID:K90.3 | Pancreatic steatorrhoea (disorder) | Pancreatic steatorrhoea | SNOMEDCT ID:197487009 +BMGC_DS02994,BMG_DS003965,Anal spasm (disorder) | UMLS ID:C0152167 | MONDO:0001274 | anal spasm | ICD10 ID:K59.4 | SNOMEDCT ID:197136003 | ICD11 ID:DB72.0 | Anal spasm | DOID:11374 | SNOMEDCT ID:17440005 +BMGC_DS02995,BMG_DS003967,DOID:14557 | Essential pulmonary hypertension | primary pulmonary hypertension | MONDO:0001999 | PPHT - Primary pulmonary hypertension | Primary pulmonary hypertension | Idiopathic pulmonary hypertension | Primary pulmonary hypertension (disorder) | SNOMEDCT ID:26174007 | UMLS ID:C0152171 +BMGC_DS02996,BMG_DS003971,Vagus nerve disease | Vagus Nerve Diseases | DOID:12491 | Vagus Nerve Disorder | vagus nerve disorder | MeSH ID:D020421 | UMLS ID:C0152179 | MONDO:0001535 +BMGC_DS02997,BMG_DS003972,accessory nerve disease | MONDO:0002636 | accessory nerve disorder | DOID:339 | UMLS ID:C0152180 +BMGC_DS02998,BMG_DS003973,hypoglossal nerve disorder | hypoglossal nerve disease | MONDO:0001810 | UMLS ID:C0152181 | DOID:13814 +BMGC_DS02999,BMG_DS003974,intermittent explosive disorder | DOID:12401 | UMLS ID:C0152183 +BMGC_DS03000,BMG_DS003976,MONDO:0001022 | UMLS ID:C0152189 | Disuse amblyopia | DOID:10378 | SNOMEDCT ID:193638002 | disuse amblyopia | deprivation amblyopia | Stimulus deprivation amblyopia | Deprivation amblyopia | Amblyopia ex anopsia | Stimulus deprivation amblyopia (disorder) +BMGC_DS03001,BMG_DS003977,Refractive amblyopia | SNOMEDCT ID:90927000 | Ametropic amblyopia | ICD10 ID:H53.02 | UMLS ID:C0152190 | Meridional amblyopia | ametropic amblyopia | Refractive amblyopia (disorder) | MONDO:0001021 | refractive amblyopia | DOID:10377 +BMGC_DS03002,BMG_DS003978,UMLS ID:C0152192 | scotoma | DOID:9335 +BMGC_DS03003,BMG_DS003979,SNOMEDCT ID:68905002 | regular astigmatism | DOID:11781 | ICD10 ID:H52.22 | UMLS ID:C0152193 | MONDO:0001364 | Regular astigmatism | Regular astigmatism (disorder) +BMGC_DS03004,BMG_DS003980,SNOMEDCT ID:47099006 | UMLS ID:C0152194 | DOID:13919 | Irregular astigmatism (disorder) | Irregular astigmatism | MONDO:0001831 | irregular astigmatism | ICD10 ID:H52.21 +BMGC_DS03005,BMG_DS003981,accommodative spasm | Ciliary muscle spasm | SNOMEDCT ID:30069002 | MONDO:0001329 | ICD10 ID:H52.53 | Spasm of accommodation (disorder) | Spasm of accommodation | DOID:11637 | UMLS ID:C0152196 +BMGC_DS03006,BMG_DS003982,Total internal ophthalmoplegia (disorder) | SNOMEDCT ID:86266009 | MONDO:0001211 | SNOMEDCT ID:193630009 | Total internal ophthalmoplegia | DOID:11177 | UMLS ID:C0152197 | Complete internal ophthalmoplegia | total internal ophthalmoplegia +BMGC_DS03007,BMG_DS003983,UMLS ID:C0152198 | SNOMEDCT ID:54552008 | MONDO:0000926 | Disorder of accommodation | DOID:10034 | Disorder of accommodation (disorder) | eye accommodation disease | SNOMEDCT ID:155137002 +BMGC_DS03008,BMG_DS003984,Color Vision Defects | UMLS ID:C0152200 | achromatopsia | ICD10 ID:H53.51 | SNOMEDCT ID:56852002 | MONDO:0018852 | Monochromatism | Achromatism | MeSH ID:D003117 | Achromatopsia (disorder) | DOID:13911 | Achromatopsia +BMGC_DS03009,BMG_DS003985,MONDO:0001296 | DOID:11491 | acquired night blindness | UMLS ID:C0152202 +BMGC_DS03010,BMG_DS003986,"Strabismus, Comitant | MeSH ID:D013285 | Strabismus | UMLS ID:C0152203" +BMGC_DS03011,BMG_DS003987,DOID:10293 | monocular esotropia | Esotropia | Monocular Esotropia | UMLS ID:C0152204 | MeSH ID:D004948 | MONDO:0000997 +BMGC_DS03012,BMG_DS003988,SNOMEDCT ID:39837002 | alternating esotropia | DOID:9888 | ICD10 ID:H50.05 | UMLS ID:C0152205 | Alternating esotropia | SNOMEDCT ID:194080005 | OMIM ID:MTHU068693 | Alternating esotropia (disorder) | MONDO:0004913 +BMGC_DS03013,BMG_DS003989,Exotropia | DOID:11853 | Monocular Exotropia | UMLS ID:C0152206 | monocular exotropia | MeSH ID:D005099 | MONDO:0001392 +BMGC_DS03014,BMG_DS003990,alternating exotropia | Exotropia | MONDO:0001281 | DOID:1142 | Alternating Exotropia | MeSH ID:D005099 | UMLS ID:C0152207 +BMGC_DS03015,BMG_DS003991,OMIM ID:MTHU062617 | MONDO:0004897 | SNOMEDCT ID:29491004 | UMLS ID:C0152208 | DOID:9841 | Hypotropia | hyop - Hypotropia | Hypotropia (disorder) | hypotropia +BMGC_DS03016,BMG_DS003992,MeSH ID:C000721272 | UMLS ID:C0152209 | MONDO:0004894 | cyclotropia | DOID:9838 +BMGC_DS03017,BMG_DS003993,MONDO:0002152 | SNOMEDCT ID:74025007 | Intermittent tropia (disorder) | UMLS ID:C0152210 | Intermittent tropia | Intermittent squint | DOID:1942 | intermittent squint +BMGC_DS03018,BMG_DS003998,SNOMEDCT ID:267745004 | OMIM ID:MTHU037173 | (Esophoria) or (strabismus NOS) or (ophthalmoplegia NOS) | Ophthalmoplegia NOS | Esotropia | SNOMEDCT ID:62176008 | (Esophoria) or (strabismus NOS) or (ophthalmoplegia NOS) (disorder) | MeSH ID:D004948 | UMLS ID:C0152216 | Esophoria (disorder) | Latent convergent squint | ICD10 ID:H50.51 | SNOMEDCT ID:155196009 | Strabismus NOS | Esophoria +BMGC_DS03019,BMG_DS004001,ICD10 ID:H50.54 | SNOMEDCT ID:60017001 | Cyclophoria | Ocular Motility Disorders | Cyclophoria (disorder) | MeSH ID:D015835 | UMLS ID:C0152219 +BMGC_DS03020,BMG_DS004003,Non-comitant strabismus | paralytic strabismus | Paralytic strabismus (disorder) | UMLS ID:C0152221 | paralytic squint | Paralytic strabismus | DOID:10863 | Incomitant dissociation | Incomitant dissociation (disorder) | MONDO:0001143 | SNOMEDCT ID:400942002 | ICD10 ID:H49 | SNOMEDCT ID:12942001 | Paralytic squint +BMGC_DS03021,BMG_DS004004,Parinaud Syndrome | UMLS ID:C0152222 | Ocular Motility Disorders | MONDO:0022220 | Parinaud syndrome | MeSH ID:D015835 +BMGC_DS03022,BMG_DS004005,DOID:9306 | Mechanical Strabismus | UMLS ID:C0152223 | MeSH ID:D013285 | MONDO:0004753 | mechanical strabismus | Strabismus +BMGC_DS03023,BMG_DS004008,"Poor closure eyelids | ICD10 ID:H02.2 | Lagophthalmos (disorder) | SNOMEDCT ID:60735000 | DOID:12959 | Lagophthalmos | SNOMEDCT ID:193936001 | Defective lid closure | lagophthalmos | ICD11 ID:9A03.4Z | Lagophthalmos, unspecified | MeSH ID:D000092164 | UMLS ID:C0152226 | OMIM ID:MTHU036832 | Lagophthalmos (finding) | MONDO:0001604" +BMGC_DS03024,BMG_DS004009,Excessive tear production (disorder) | excessive tearing | SNOMEDCT ID:49393005 | Excessive tear production | Crocodile tears | UMLS ID:C0152227 | OMIM ID:MTHU075796 | Illacrimation | MONDO:0001793 | Watering eye | DOID:13757 | Tearing eyes | Watery eyes | Excessive tearing +BMGC_DS03025,BMG_DS004015,MONDO:0015839 | UMLS ID:C0152240 | septate uterus +BMGC_DS03026,BMG_DS004016,MONDO:0001099 | UMLS ID:C0152243 | lactocele | DOID:10686 +BMGC_DS03027,BMG_DS004019,Acne frontalis | SNOMEDCT ID:23894009 | UMLS ID:C0152249 | ICD10 ID:L70.2 | acne | DOID:6543 | SNOMEDCT ID:201210008 | Acne varioliformis (disorder) | Acne varioliformis | Other specified acneform inflammatory disorders | ICD11 ID:ED81.Y +BMGC_DS03028,BMG_DS004020,thrombophlebitis migrans | UMLS ID:C0152250 | Thrombophlebitis migrans | DOID:14392 | Migratory thrombophlebitis | ICD11 ID:BD70.2 | Trousseau's syndrome | SNOMEDCT ID:31268005 | Thrombophlebitis migrans (disorder) | ICD10 ID:I82.1 | MONDO:0001954 | SNOMEDCT ID:155456002 | SNOMEDCT ID:155491005 +BMGC_DS03029,BMG_DS004023,OMIM ID:MTHU073515 | UMLS ID:C0152253 | SNOMEDCT ID:111512005 | Posterior synechiae | Posterior synechiae (disorder) +BMGC_DS03030,BMG_DS004024,(Disorders of conjunctiva NOS) or (chemosis) or (pinguecula) or (symblepharon) | Pinguecula | Chemosis of conjunctiva | Pinguecula (disorder) | pinguecula | MONDO:0001179 | (Disorders of conjunctiva NOS) or (chemosis) or (pinguecula) or (symblepharon) (disorder) | Symblepharon | MeSH ID:D059407 | DOID:11029 | SNOMEDCT ID:155169006 | SNOMEDCT ID:267735001 | SNOMEDCT ID:87614000 | UMLS ID:C0152255 | Disorders of conjunctiva NOS | ICD10 ID:H11.15 | Pinguicula +BMGC_DS03031,BMG_DS004026,mature cataract | DOID:13717 | UMLS ID:C0152257 +BMGC_DS03032,BMG_DS004027,UMLS ID:C0152258 | SNOMEDCT ID:264443002 | Morgagnian cataract (disorder) | DOID:13964 | Morgagnian cataract | SNOMEDCT ID:247065006 | MONDO:0001848 | Morgagni cataract | Morgagnian cataract (finding) +BMGC_DS03033,BMG_DS004029,cystitis cystica | UMLS ID:C0152262 | MONDO:0004118 | Cystitis cystica (disorder) | Cystitis cystica | DOID:7138 | SNOMEDCT ID:13285005 +BMGC_DS03034,BMG_DS004031,ICD11 ID:3A80.0 | Familial erythrocytosis (disorder) | Familial erythrocytosis | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) | Familial polycythemia | primary polycythemia | Hypergammaglobulinemia | MONDO:0001115 | DOID:10780;DOID:0060652 | SNOMEDCT ID:267571003 | Primary inherited erythrocytosis | Erythrocytosis - familial | SNOMEDCT ID:17342003 | familial polycythemia | ICD10 ID:D75.0 | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) (disorder) | UMLS ID:C0152264 | familial erythrocytosis 1 | SNOMEDCT ID:154840005 | Familial polycythaemia | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinemia) | Hereditary pure erythrocytosis | Other blood diseases | Hypergammaglobulinaemia +BMGC_DS03035,BMG_DS004032,"Hodgkin's lymphoma, mixed cellularity | UMLS ID:C0152266 | DOID:8654 | MONDO:0004633" +BMGC_DS03036,BMG_DS004033,"MONDO:0004620 | UMLS ID:C0152267 | Hodgkin's lymphoma, lymphocytic depletion | DOID:8628" +BMGC_DS03037,BMG_DS004034,"nodular sclerosis classical Hodgkin lymphoma | UMLS ID:C0152268 | Hodgkin's lymphoma, nodular sclerosis | DOID:8838 | MONDO:0004665" +BMGC_DS03038,BMG_DS004035,UMLS ID:C0152272 | DOID:8997 | polycythemia vera +BMGC_DS03039,BMG_DS004036,MONDO:0004644 | subacute monocytic leukemia | UMLS ID:C0152275 | DOID:8696 +BMGC_DS03040,BMG_DS004037,DOID:8683 | granulocytic sarcoma | MONDO:0006237 | myeloid sarcoma | UMLS ID:C0152276 +BMGC_DS03041,BMG_DS004039,OMIM ID:106280 | UMLS ID:C0152415 | MONDO:0007125 | ankyloglossia +BMGC_DS03042,BMG_DS004040,aortic valve stenosis | MONDO:0017735 | congenital aortic valve stenosis | DOID:1712 | UMLS ID:C0152417 +BMGC_DS03043,BMG_DS004041,aortic arch interruption | MONDO:0009010 | UMLS ID:C0152419 +BMGC_DS03044,BMG_DS004042,UMLS ID:C0152422 | congenital aphakia | DOID:11367 +BMGC_DS03045,BMG_DS004043,craniorachischisis | UMLS ID:C0152426 | MONDO:0018969 +BMGC_DS03046,BMG_DS004044,DOID:1148 | UMLS ID:C0152427 | OMIM ID:603596 | polydactyly | MONDO:0021003 +BMGC_DS03047,BMG_DS004047,MONDO:0008482 | Sprengel deformity | OMIM ID:184400 | UMLS ID:C0152438 +BMGC_DS03048,BMG_DS004048,SNOMEDCT ID:44268007 | RS - Retinoschisis | OMIM ID:MTHU006950 | Retinoschisis (disorder) | MeSH ID:D041441 | UMLS ID:C0152439 | Schisis of retina | MONDO:0004579 | Retinoschisis | retinoschisis | DOID:8465 | SNOMEDCT ID:389992006 +BMGC_DS03049,BMG_DS004049,UMLS ID:C0152440 | Corneal staphyloma (disorder) | SNOMEDCT ID:52476003 | SNOMEDCT ID:193849005 | corneal staphyloma | Corneal staphyloma | ICD10 ID:H18.72 | MONDO:0001579 | DOID:12753 +BMGC_DS03050,BMG_DS004052,SNOMEDCT ID:90531003 | Urethral diverticulum | Urethral diverticulum (disorder) | UMLS ID:C0152443 | DOID:9341 | ICD10 ID:N36.1 | urethral diverticulum | ICD11 ID:GC06 +BMGC_DS03051,BMG_DS004054,SNOMEDCT ID:197421008 | MONDO:0004859 | UMLS ID:C0152445 | SNOMEDCT ID:47312008 | hydrops of gallbladder | DOID:9717 | (Mucocele of gallbladder) or (hydrops of gallbladder) | Hydrops of gallbladder | Mucocele of gallbladder | ICD11 ID:DC10.1 | Hydrops of gallbladder (disorder) | ICD10 ID:K82.1 +BMGC_DS03052,BMG_DS004056,UMLS ID:C0152451 | CGN - Chronic glomerulonephritis | Nephropathy - chronic | SNOMEDCT ID:197612003 | (Chronic glomerulonephritis) or (nephritis - chronic) | Chronic nephropathy (& [glomerulonephritis] or [nephritis]) | SNOMEDCT ID:155852006 | (Chronic glomerulonephritis) or (nephritis - chronic) (disorder) | SNOMEDCT ID:20917003 | Nephritis - chronic | Glomeruloneph.- chronic | Chronic nephropathy (& [glomerulonephritis] or [nephritis]) (disorder) | Chronic glomerulonephritis | Chronic glomerulonephritis (disorder) | SNOMEDCT ID:266614002 +BMGC_DS03053,BMG_DS004057,Adhesive pericarditis (disorder) | Adherent pericardium | Adhesive pericarditis | SNOMEDCT ID:37715009 | Fibrosis of pericardium (disorder) | Fibrosis of pericardium | UMLS ID:C0152452 | SNOMEDCT ID:194965002 +BMGC_DS03054,BMG_DS004059,ICD10 ID:H18.44 | MONDO:0001250 | SNOMEDCT ID:85149007 | DOID:11267 | Keratomalacia (disorder) | Keratomalacia | MeSH ID:C536156 | keratomalacia | UMLS ID:C0152455 +BMGC_DS03055,BMG_DS004060,DOID:10254 | Gallbladder cholesterolosis | ICD10 ID:K82.4 | strawberry gallbladder | cholesterolosis of gallbladder | Strawberry gallbladder | MONDO:0000987 | UMLS ID:C0152456 | ICD11 ID:DC10.4 | Cholesterolosis of gallbladder (disorder) | SNOMEDCT ID:61565001 | Cholesterolosis of gallbladder +BMGC_DS03056,BMG_DS004061,ICD10 ID:H18.04 | SNOMEDCT ID:77103006 | UMLS ID:C0152457 | Kayser-Fleischer ring | OMIM ID:MTHU038006 | Kayser-Fleischer ring (disorder) +BMGC_DS03057,BMG_DS004062,OMIM ID:MTHU009657 | Leukocoria (disorder) | Leukocoria | Leucocoria | UMLS ID:C0152458 | SNOMEDCT ID:193288000 | SNOMEDCT ID:1361009 | DOID:11772 | leukocoria +BMGC_DS03058,BMG_DS004063,(Peyronie's disease) or (balanitis xerotica obliterans) | (Peyronie's disease) or (balanitis xerotica obliterans) (disorder) | UMLS ID:C0152460 | SNOMEDCT ID:43790000 | Lichen sclerosus et atrophicus of glans penis AND prepuce | SNOMEDCT ID:198028006 | Peyronie's disease | Lichen sclerosus et atrophicus of glans penis AND prepuce (disorder) | balanitis xerotica obliterans | DOID:13477 | Balanitis xerotica obliterans | MONDO:0001725 | SNOMEDCT ID:198033005 | Balanitis xerotica obliterans (disorder) | SNOMEDCT ID:367113004 | BXO - Balanitis xerotica obliterans | Lichen sclerosus of glans penis +BMGC_DS03059,BMG_DS004065,UMLS ID:C0152486 | Salmonella sepsis | ICD11 ID:1C41 | Bacterial infection of unspecified site | ICD10 ID:A02.1 +BMGC_DS03060,BMG_DS004072,ICD11 ID:1A36.00 | UMLS ID:C0152499 | Acute amebiasis | Acute amebiasis (disorder) | SNOMEDCT ID:39224005 | ICD10 ID:A06.0 | Acute amoebiasis +BMGC_DS03061,BMG_DS004073,"Chronic amebiasis | Chronic amoebic dysentery | Chronic amoebiasis | Chronic intestinal amoebiasis | Chronic intestinal amebiasis (disorder) | ICD10 ID:A06.1 | SNOMEDCT ID:23874000 | UMLS ID:C0152500 | Chronic amebic dysentery | Chronic intestinal amebiasis | Chronic amebiasis (disorder) | ICD11 ID:1A36.0Z | SNOMEDCT ID:186117001 | Intestinal infections due to Entamoeba, unspecified" +BMGC_DS03062,BMG_DS004079,"Other specified protozoal intestinal diseases (disorder) | ICD11 ID:1A3Z | DOID:14397 | UMLS ID:C0152507 | protozoal dysentery | Protozoal intestinal infections, unspecified | Other specified protozoal intestinal diseases | SNOMEDCT ID:186127007 | ICD10 ID:A07.8" +BMGC_DS03063,BMG_DS004080,Intestinal infection caused by Pseudomonas | UMLS ID:C0152515 | SNOMEDCT ID:82930004 | Intestinal infection caused by Pseudomonas (disorder) +BMGC_DS03064,BMG_DS004081,Inflammation of intestine caused by bacteria | SNOMEDCT ID:75375008 | Bacterial enteritis of intestine | UMLS ID:C0152516 | Bacterial enteritis | Inflammation of intestine caused by bacteria (disorder) | Septic enteritis +BMGC_DS03065,BMG_DS004082,Viral: [ill-defined GIT infections (& diarrhoea)] or [gastroenteritis] (disorder) | SNOMEDCT ID:266178009 | Viral gastroenteritis (disorder) | (Epidemic diarrhea) or (viral gastroenteritis) | Diarrhoea-viral GIT inf | Epidemic diarrhoea | SNOMEDCT ID:186166004 | SNOMEDCT ID:111843007 | Viral: [ill-defined GIT infections (& diarrhoea)] or [gastroenteritis] | Nonbacterial gastroenteritis | Nonbacterial gastroenteritis (disorder) | Viral: [ill-defined GIT infections (& diarrhea)] or [gastroenteritis] | Diarrhea-viral GIT inf | SNOMEDCT ID:66550001 | Viral diarrhea | Viral diarrhoea | Gastroent. - viral | UMLS ID:C0152517 | SNOMEDCT ID:154277007 | Viral and ill-defined gastrointestinal infections | Viral + ill-defined GIT inf. | Viral vomiting | Epidemic diarrhea | Viral gastroenteritis | (Epidemic diarrhoea) or (viral gastroenteritis) | (Epidemic diarrhoea) or (viral gastroenteritis) (disorder) +BMGC_DS03066,BMG_DS004086,Tuberculous pleurisy in primary progressive tuberculosis | SNOMEDCT ID:186172004 | DOID:106 | Primary progressive tuberculosis with tuberculous pleurisy | UMLS ID:C0152531 | pleural tuberculosis | Tuberculous pleurisy in primary progressive tuberculosis (disorder) +BMGC_DS03067,BMG_DS004094,"SNOMEDCT ID:29731002 | Tuberculous pneumothorax (disorder) | ICD11 ID:1B10.0 | DOID:9534 | ICD10 ID:A15.0 | Respiratory tuberculosis, confirmed | tuberculous pneumothorax | Tuberculous pneumothorax | UMLS ID:C0152600 | MONDO:0004813" +BMGC_DS03068,BMG_DS004102,UMLS ID:C0152724 | intestinal tuberculosis | DOID:13282 +BMGC_DS03069,BMG_DS004107,MONDO:0004272 | Tuberculosis of urinary bladder (disorder) | TB (tuberculosis) of urinary bladder | bladder tuberculosis | SNOMEDCT ID:32268008 | DOID:754 | Tuberculosis of bladder | Tuberculosis of urinary bladder | UMLS ID:C0152793 | urinary bladder tuberculosis +BMGC_DS03070,BMG_DS004108,ureter tuberculosis | TB - Tuberculosis of ureter | UMLS ID:C0152800 | Tuberculosis of ureter | SNOMEDCT ID:81359005 | Tuberculosis of ureter (disorder) | MONDO:0004517 | DOID:827 +BMGC_DS03071,BMG_DS004109,MONDO:0001537 | Tuberculosis of epididymis | Tuberculosis of epididymis (disorder) | DOID:1251 | SNOMEDCT ID:83652003 | tuberculous epididymitis | UMLS ID:C0152814 | Tuberculous epididymitis +BMGC_DS03072,BMG_DS004111,Tuberculous oophoritis and salpingitis | ICD10 ID:A18.17 | DOID:2148;DOID:0050166 | tuberculous oophoritis | UMLS ID:C0152828 | tuberculous salpingitis +BMGC_DS03073,BMG_DS004114,Tuberculosis of ear | SNOMEDCT ID:186269001 | UMLS ID:C0152874 | Tuberculosis of ear (disorder) +BMGC_DS03074,BMG_DS004117,Tuberculosis of esophagus (disorder) | Tuberculosis of oesophagus | SNOMEDCT ID:15284007 | UMLS ID:C0152902 | DOID:7332 | Tuberculosis of esophagus | MONDO:0004189 | esophageal tuberculosis +BMGC_DS03075,BMG_DS004120,Septicemic Plague | UMLS ID:C0152936 | MONDO:0005956 | MeSH ID:D010930 | DOID:3481 | septicemic plague | Plague +BMGC_DS03076,BMG_DS004121,SNOMEDCT ID:35339003 | Primary pneumonic plague (disorder) | UMLS ID:C0152937 | Primary pneumonic plague | DOID:10398 | pneumonic plague +BMGC_DS03077,BMG_DS004122,Secondary pneumonic plague (disorder) | SNOMEDCT ID:67525007 | Secondary pneumonic plague | DOID:10398 | UMLS ID:C0152938 | pneumonic plague +BMGC_DS03078,BMG_DS004123,MONDO:0001413 | Ulceroglandular tularaemia | Ulceroglandular tularemia (disorder) | ulceroglandular tularemia | SNOMEDCT ID:37722001 | Ulceroglandular tularemia | UMLS ID:C0152941 | ICD10 ID:A21.0 | ICD11 ID:1B94.0 | DOID:11990 +BMGC_DS03079,BMG_DS004124,Intestinal tularaemia | SNOMEDCT ID:398599000 | Typhoidal tularemia | SNOMEDCT ID:62769007 | Oropharyngeal tularemia | Typhoidal tularaemia | Enteric tularemia (disorder) | Cryptogenic tularaemia | Enteric tularemia | Enteric tularaemia | Typhoidal tularemia (disorder) | Oropharyngeal tularaemia | Intestinal tularemia | gastrointestinal tularemia | DOID:14239 | SNOMEDCT ID:186292001 | UMLS ID:C0152942 | Cryptogenic tularemia +BMGC_DS03080,BMG_DS004125,DOID:13226 | Other specified tularaemia | Oculoglandular tularemia (disorder) | ICD11 ID:1B94.Y | oculoglandular tularemia | ICD10 ID:A21.1 | MONDO:0001665 | Oculoglandular tularemia | UMLS ID:C0152944 | SNOMEDCT ID:73363000 | Oculoglandular tularaemia +BMGC_DS03081,BMG_DS004126,Gastrointestinal anthrax (disorder) | gastrointestinal anthrax | ICD10 ID:A22.2 | SNOMEDCT ID:111798006 | SNOMEDCT ID:186302005 | Anthrax | ICD11 ID:1B97 | UMLS ID:C0152945 | MONDO:0001701 | MeSH ID:C571911 | DOID:13386 | Gastrointestinal anthrax +BMGC_DS03082,BMG_DS004127,ICD11 ID:1B97 | Anthrax | ICD10 ID:A22.7 | UMLS ID:C0152946 | Anthrax sepsis +BMGC_DS03083,BMG_DS004129,Diphtheritic myocarditis | Diphtheritic myocarditis (disorder) | SNOMEDCT ID:26117009 | MONDO:0041259 | diphtheritic myocarditis | ICD10 ID:A36.81 | UMLS ID:C0152952 +BMGC_DS03084,BMG_DS004130,ICD10 ID:A36.89 | UMLS ID:C0152953 | DOID:13310 | SNOMEDCT ID:13596001 | MONDO:0001682 | diphtheritic peritonitis | Diphtheritic peritonitis (disorder) | Diphtheritic peritonitis +BMGC_DS03085,BMG_DS004131,MONDO:0001681 | SNOMEDCT ID:48278001 | UMLS ID:C0152954 | DOID:13306 | Diphtheritic cystitis | SNOMEDCT ID:197847008 | ICD10 ID:A36.85 | Cystitis in diphtheria | diphtheritic cystitis | Diphtheritic cystitis (disorder) +BMGC_DS03086,BMG_DS004138,Streptococcal sepsis | UMLS ID:C0152964 | ICD10 ID:A40 +BMGC_DS03087,BMG_DS004140,SNOMEDCT ID:1976008 | Septicaemia due to anaerobes | Septicemia due to anaerobes | Anaerobic septicemia | Anaerobic septicemia (disorder) | Anaerobic septicaemia | UMLS ID:C0152967 +BMGC_DS03088,BMG_DS004143,"Acute nonparalytic poliomyelitis (disorder) | Acute poliomyelitis | Epidemic acute poliomyelitis, non paralytic | ICD10 ID:A80.4 | Anterior acute poliomyelitis, nonparalytic | Epidemic acute poliomyelitis specified as non paralytic | MONDO:0003231 | SNOMEDCT ID:14535005 | Anterior acute poliomyelitis specified as nonparalytic | DOID:4986 | Acute non-paralytic poliomyelitis | UMLS ID:C0152998 | acute nonparalytic poliomyelitis | ICD11 ID:1C81 | nonparalytic poliomyelitis | Acute nonparalytic poliomyelitis" +BMGC_DS03089,BMG_DS004153,ICD10 ID:B02.33 | UMLS ID:C0153027 | Herpes zoster keratoconjunctivitis (disorder) | Herpes zoster with keratoconjunctivitis | Herpes zoster keratoconjunctivitis | SNOMEDCT ID:42448002 +BMGC_DS03090,BMG_DS004158,eczema herpeticum | SNOMEDCT ID:186544000 | DOID:9123 | Herpes simplex eyelid dermatitis (disorder) | Herpes simplex eyelid dermatitis | UMLS ID:C0153037 | Herpes simplex dermatitis of eyelid +BMGC_DS03091,BMG_DS004161,SNOMEDCT ID:43891009 | herpetic whitlow | Herpetic whitlow | Herpetic whitlow (disorder) | DOID:8607 | Herpetic felon | MONDO:0004616 | UMLS ID:C0153042 | Herpes simplex whitlow +BMGC_DS03092,BMG_DS004176,"DOID:10843 | Western equine encephalitis | western equine encephalitis | UMLS ID:C0153064 | MONDO:0019380 | Encephalomyelitis, Western Equine | MeSH ID:D020241" +BMGC_DS03093,BMG_DS004177,"UMLS ID:C0153065 | MONDO:0005736 | MeSH ID:D020242 | DOID:10841 | Eastern equine encephalitis | eastern equine encephalitis | Encephalomyelitis, Eastern Equine" +BMGC_DS03094,BMG_DS004178,SNOMEDCT ID:66454007 | Murray Valley encephalitis | MONDO:0001137 | Australian arboencephalitis | UMLS ID:C0153066 | DOID:10842 | Murray Valley encephalitis (disorder) | Australian encephalitis | Australian X disease | Murray River encephalitis | Murray valley encephalitis | MVE - Murray Valley encephalitis +BMGC_DS03095,BMG_DS004201,"Trachoma, initial stage | Trachoma dubium - initial stage | Trachoma dubium | DOID:11265 | UMLS ID:C0153107 | Trachoma, initial stage (disorder) | trachoma | SNOMEDCT ID:29976007" +BMGC_DS03096,BMG_DS004202,"DOID:11265 | UMLS ID:C0153108 | SNOMEDCT ID:52812002 | Trachoma, active stage (disorder) | Trachoma, active stage | trachoma" +BMGC_DS03097,BMG_DS004205,MeSH ID:D020338 | Vestibular Neuronitis | Acute Peripheral Vestibulopathy | UMLS ID:C0153113 +BMGC_DS03098,BMG_DS004211,UMLS ID:C0153121 | mixed malaria | Mixed malaria | SNOMEDCT ID:21070001 | MONDO:0001944 | DOID:14325 | Mixed malaria (disorder) | Malaria by more than one parasite +BMGC_DS03099,BMG_DS004217,"late congenital syphilis | Neurosyphilis | Neurosyphilis, Juvenile | MeSH ID:D009494 | DOID:10039 | UMLS ID:C0153132" +BMGC_DS03100,BMG_DS004220,late congenital syphilis | UMLS ID:C0153136 | DOID:10039 +BMGC_DS03101,BMG_DS004221,DOID:4156 | primary syphilis | Early symptomatic syphilis | UMLS ID:C0153139 | Early symptomatic syphilis (disorder) | SNOMEDCT ID:186846005 +BMGC_DS03102,BMG_DS004238,MeSH ID:C536775 | Syphilitic aseptic meningitis | syphilitic meningitis | DOID:10073 | UMLS ID:C0153166 | MONDO:0000936 +BMGC_DS03103,BMG_DS004239,"Neurosyphilis | DOID:10035 | asymptomatic neurosyphilis | Neurosyphilis, Asymptomatic | MeSH ID:D009494 | UMLS ID:C0153167 | MONDO:0000927" +BMGC_DS03104,BMG_DS004240,Syphilitic encephalitis (disorder) | UMLS ID:C0153168 | Syphilitic encephalitis | DOID:10081 | SNOMEDCT ID:26135000 | MONDO:0000937 | syphilitic encephalitis +BMGC_DS03105,BMG_DS004255,"Syphilis, tertiary | UMLS ID:C0153188 | MONDO:0004497 | MeSH ID:C536774 | tertiary syphilis | DOID:8200" +BMGC_DS03106,BMG_DS004256,Acute gonococcal cystitis (disorder) | UMLS ID:C0153191 | Bladder gonorrhea - acute | DOID:13690 | acute gonococcal cystitis | Acute gonococcal cystitis | SNOMEDCT ID:24868007 | Bladder gonorrhoea - acute | MONDO:0001777 +BMGC_DS03107,BMG_DS004257,Acute gonococcal prostatitis (disorder) | acute gonococcal prostatitis | SNOMEDCT ID:111806005 | UMLS ID:C0153192 | Acute gonococcal prostatitis | MONDO:0001838 | DOID:13943 +BMGC_DS03108,BMG_DS004258,DOID:10802 | SNOMEDCT ID:30168008 | Acute gonococcal orchitis | acute gonococcal epididymo-orchitis | Acute gonococcal: [epididymo-orchitis] or [orchitis] (disorder) | MONDO:0001125 | UMLS ID:C0153193 | SNOMEDCT ID:186912008 | Acute gonococcal epididymo-orchitis | Acute gonococcal epididymo-orchitis (disorder) | Acute gonococcal: [epididymo-orchitis] or [orchitis] +BMGC_DS03109,BMG_DS004260,Acute inflammation of cervix uteri caused by Neisseria gonorrhoeae | MONDO:0001080 | Acute inflammation of cervix uteri caused by Neisseria gonorrhoeae (disorder) | acute gonococcal cervicitis | DOID:10615 | UMLS ID:C0153195 | SNOMEDCT ID:20943002 | Acute gonococcal cervicitis +BMGC_DS03110,BMG_DS004261,MONDO:0004264 | DOID:7527 | Uterus - acute gonorrhoea | acute gonococcal endometritis | Acute gonococcal endometritis | SNOMEDCT ID:65295003 | UMLS ID:C0153196 | Uterus - acute gonorrhea | SNOMEDCT ID:186913003 | Acute gonococcal endometritis (disorder) +BMGC_DS03111,BMG_DS004265,SNOMEDCT ID:23975003 | seminal vesicle chronic gonorrhea | DOID:10399 | Chronic gonococcal seminal vesiculitis | Chronic gonococcal seminal vesiculitis (disorder) | MONDO:0001025 | UMLS ID:C0153205 +BMGC_DS03112,BMG_DS004266,UMLS ID:C0153206 | Chronic inflammation of cervix uteri caused by Neisseria gonorrhoeae (disorder) | MONDO:0002029 | DOID:1512 | Chronic inflammation of cervix uteri caused by Neisseria gonorrhoeae | chronic gonorrhea of cervix | SNOMEDCT ID:76802005 | Chronic gonococcal cervicitis +BMGC_DS03113,BMG_DS004268,DOID:12718 | chronic gonococcal salpingitis | MONDO:0001575 | Chronic gonococcal salpingitis | SNOMEDCT ID:53529004 | UMLS ID:C0153208 | Chronic gonococcal salpingitis (disorder) +BMGC_DS03114,BMG_DS004270,SNOMEDCT ID:186922002 | DOID:9384 | UMLS ID:C0153212 | gonococcal iridocyclitis | MONDO:0004774 | Gonococcal iridocyclitis | SNOMEDCT ID:9091006 | ICD10 ID:A54.32 | Gonococcal iridocyclitis (disorder) +BMGC_DS03115,BMG_DS004271,ICD10 ID:A54.39 | SNOMEDCT ID:186923007 | DOID:9698 | SNOMEDCT ID:111807001 | UMLS ID:C0153213 | Gonococcal endophthalmia | gonococcal endophthalmia | MONDO:0004853 | Gonococcal endophthalmia (disorder) +BMGC_DS03116,BMG_DS004272,SNOMEDCT ID:186924001 | SNOMEDCT ID:40149008 | MONDO:0004852 | Gonococcal keratitis | Keratitis blennorrhagica | gonococcal keratitis | DOID:9697 | Gonococcal keratitis (disorder) | UMLS ID:C0153214 | ICD10 ID:A54.33 +BMGC_DS03117,BMG_DS004274,UMLS ID:C0153216 | gonococcal infection of joint | MONDO:0041903 | Gonococcal arthritis | SNOMEDCT ID:44743006 | Gonococcal joint infection | Gonococcal infection of joint | Gonococcal infection of joint (disorder) | Gonococcal rheumatism +BMGC_DS03118,BMG_DS004275,DOID:13453 | ICD10 ID:A54.49 | UMLS ID:C0153218 | SNOMEDCT ID:46699001 | gonococcal bursitis | Bursitis caused by Neisseria gonorrhoeae | Gonococcal bursitis | Bursitis caused by Neisseria gonorrhoeae (disorder) | Gonococcal bursitis (disorder) | MONDO:0001719 | SNOMEDCT ID:186928003 +BMGC_DS03119,BMG_DS004276,SNOMEDCT ID:53664003 | Gonococcal spondylitis | gonococcal spondylitis | SNOMEDCT ID:186929006 | DOID:13127 | Gonococcal spondylitis (disorder) | UMLS ID:C0153219 | MONDO:0001640 +BMGC_DS03120,BMG_DS004279,UMLS ID:C0153225 | SNOMEDCT ID:151004 | Gonococcal meningitis (disorder) | Gonococcal meningitis | ICD10 ID:A54.81 | Meningitis due to gonococcus | SNOMEDCT ID:186935006 +BMGC_DS03121,BMG_DS004281,UMLS ID:C0153227 | SNOMEDCT ID:186937003 | ICD10 ID:A54.83 | Gonococcal endocarditis (disorder) | SNOMEDCT ID:61048000 | Gonococcal endocarditis | Endocarditis - gonococcal +BMGC_DS03122,BMG_DS004285,ICD10 ID:A66.1 | Multiple papillomata and wet crab yaws | late yaws | ICD11 ID:1C1D.1 | Secondary yaws | UMLS ID:C0153234 | DOID:10567 +BMGC_DS03123,BMG_DS004288,MONDO:0040925 | SNOMEDCT ID:186973005 | ICD10 ID:A66.8 | Latent yaws | Latent yaws (disorder) | UMLS ID:C0153240 | ICD11 ID:1C1D.3 | latent yaws +BMGC_DS03124,BMG_DS004294,MONDO:0001699 | MeSH ID:C000656824 | DOID:13369 | UMLS ID:C0153246 | tinea manus | tinea manuum +BMGC_DS03125,BMG_DS004295,SNOMEDCT ID:33666009 | Black piedra (disorder) | Piedra due to Piedraia hortae | ICD11 ID:1F2D.3 | MONDO:0005669 | ICD10 ID:B36.3 | black piedra | Black piedra | DOID:12711 | UMLS ID:C0153249 +BMGC_DS03126,BMG_DS004298,Systemic candidiasis | MeSH ID:C536777 | ICD11 ID:1F23.Y/1G40 | Disseminated candidosis | UMLS ID:C0153252 | MONDO:0042233 | Invasive candidiasis | SNOMEDCT ID:70572005 | Disseminated candida | Disseminated candidiasis (disorder) | disseminated candidiasis | ICD10 ID:B37.7 | Disseminated candidiasis +BMGC_DS03127,BMG_DS004300,UMLS ID:C0153254 | SNOMEDCT ID:63553008 | Candidal endocarditis (disorder) | ICD10 ID:B37.6 | Candidal endocarditis | ICD11 ID:1F23.3Y/BB40 +BMGC_DS03128,BMG_DS004302,ICD11 ID:1F23.30 | UMLS ID:C0153256 | Candida meningitis | Candidal meningitis (disorder) | SNOMEDCT ID:45021001 | OMIM ID:MTHU067521 | Candidal meningitis | ICD10 ID:B37.5 +BMGC_DS03129,BMG_DS004303,San Joaquin Valley fever | SNOMEDCT ID:88036000 | Primary pulmonary coccidioidomycosis | Primary pulmonary coccidioidomycosis (disorder) | UMLS ID:C0153257 | Coccidioidal pneumonitis | Desert rheumatism | Coccidioidomycotic pneumonitis | SNOMEDCT ID:187026005 +BMGC_DS03130,BMG_DS004305,Histoplasmosis | UMLS ID:C0153261 | MeSH ID:D006660 | Histoplasma capsulatum Infection | American histoplasmosis | DOID:1759 +BMGC_DS03131,BMG_DS004309,UMLS ID:C0153270 | DOID:11315 | African histoplasmosis +BMGC_DS03132,BMG_DS004314,DOID:12246 | UMLS ID:C0153277 | MONDO:0001471 | histoplasmosis meningitis +BMGC_DS03133,BMG_DS004315,SNOMEDCT ID:187058000 | Histoplasmosis with retinitis | DOID:11316 | UMLS ID:C0153278 | Histoplasmosis with retinitis (disorder) | MONDO:0001263 | histoplasmosis retinitis +BMGC_DS03134,BMG_DS004316,Histoplasmosis with pericarditis (disorder) | Histoplasmosis with pericarditis | SNOMEDCT ID:187059008 | MONDO:0000981 | DOID:10234 | histoplasmosis pericarditis | UMLS ID:C0153279 | Histoplasma pericarditis +BMGC_DS03135,BMG_DS004319,ICD11 ID:1F73.0 | Echinococcus granulosus infection of liver (disorder) | ICD10 ID:B67.0 | Echinococcus infection of liver | UMLS ID:C0153289 | Echinococcus granulosus infection of liver | SNOMEDCT ID:20790006 +BMGC_DS03136,BMG_DS004320,Echinococcus granulosus infection of lung (disorder) | Echinococcus granulosus pulmonary infection | ICD11 ID:1F73.1 | Echinococcus granulosus infection of lung | UMLS ID:C0153290 | Echinococcus granulosus lung infection | Echinococcus infection of lung | ICD10 ID:B67.1 | SNOMEDCT ID:75388006 +BMGC_DS03137,BMG_DS004327,SNOMEDCT ID:90679001 | Mixed intestinal infection caused by Cestoda and/or Trematoda and/or Phylum Nematoda (disorder) | 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 | UMLS ID:C0153303 | Mixed intestinal helminthiasis +BMGC_DS03138,BMG_DS004341,lip cancer | UMLS ID:C0153340 | DOID:8564 | MONDO:0006834 +BMGC_DS03139,BMG_DS004342,lip cancer | DOID:8564 | UMLS ID:C0153346 +BMGC_DS03140,BMG_DS004343,UMLS ID:C0153347 | lip cancer | DOID:8564 +BMGC_DS03141,BMG_DS004344,DOID:8649 | UMLS ID:C0153349 | tongue cancer | MONDO:0004631 +BMGC_DS03142,BMG_DS004345,UMLS ID:C0153350 | tongue cancer | DOID:8649 +BMGC_DS03143,BMG_DS004346,tongue cancer | DOID:8649 | UMLS ID:C0153351 +BMGC_DS03144,BMG_DS004347,tongue cancer | UMLS ID:C0153356 | DOID:8649 +BMGC_DS03145,BMG_DS004348,submandibular gland cancer | UMLS ID:C0153360 | DOID:9173 | MONDO:0004724 +BMGC_DS03146,BMG_DS004349,sublingual gland cancer | MONDO:0004667 | UMLS ID:C0153361 | DOID:8849 +BMGC_DS03147,BMG_DS004350,DOID:8850 | salivary gland cancer | UMLS ID:C0153362 +BMGC_DS03148,BMG_DS004351,UMLS ID:C0153364 | gum cancer | MONDO:0005507 | DOID:8602 | gingival cancer +BMGC_DS03149,BMG_DS004352,UMLS ID:C0153365 | DOID:8601 | upper gum cancer | MONDO:0004615 +BMGC_DS03150,BMG_DS004353,oral cavity cancer | MONDO:0021320 | UMLS ID:C0153368 | DOID:8618 | malignant tumor of floor of mouth +BMGC_DS03151,BMG_DS004354,UMLS ID:C0153369 | DOID:8618 | oral cavity cancer +BMGC_DS03152,BMG_DS004355,DOID:8702 | MONDO:0004645 | cheek mucosa cancer | UMLS ID:C0153373 +BMGC_DS03153,BMG_DS004356,MONDO:0004727 | UMLS ID:C0153374 | DOID:9188 | vestibule of mouth cancer +BMGC_DS03154,BMG_DS004357,UMLS ID:C0153375 | hard palate cancer | DOID:9149 | MONDO:0004719 +BMGC_DS03155,BMG_DS004358,MONDO:0004611 | soft palate cancer | UMLS ID:C0153376 | DOID:8578 +BMGC_DS03156,BMG_DS004359,MONDO:0004624 | uvula cancer | UMLS ID:C0153377 | DOID:8635 +BMGC_DS03157,BMG_DS004360,DOID:8930 | UMLS ID:C0153379 | retromolar area cancer | MONDO:0004682 +BMGC_DS03158,BMG_DS004362,oropharynx cancer | MONDO:0004608 | UMLS ID:C0153382 | DOID:8557 +BMGC_DS03159,BMG_DS004363,tonsillar fossa cancer | UMLS ID:C0153384 | DOID:8969 | MONDO:0004690 +BMGC_DS03160,BMG_DS004364,MONDO:0004642 | DOID:8688 | UMLS ID:C0153385 | tonsillar pillar cancer +BMGC_DS03161,BMG_DS004365,DOID:8556 | MONDO:0004607 | UMLS ID:C0153386 | vallecula cancer +BMGC_DS03162,BMG_DS004366,UMLS ID:C0153388 | oropharynx cancer | DOID:8557 +BMGC_DS03163,BMG_DS004367,oropharynx cancer | UMLS ID:C0153389 | DOID:8557 +BMGC_DS03164,BMG_DS004368,oropharynx cancer | DOID:8557 | UMLS ID:C0153390 +BMGC_DS03165,BMG_DS004369,MONDO:0021315 | DOID:9261 | UMLS ID:C0153392 | nasopharynx carcinoma | malignant tumor of nasopharynx +BMGC_DS03166,BMG_DS004370,DOID:9261 | nasopharynx carcinoma | UMLS ID:C0153393 +BMGC_DS03167,BMG_DS004371,UMLS ID:C0153394 | nasopharynx carcinoma | DOID:9261 +BMGC_DS03168,BMG_DS004372,DOID:9261 | nasopharynx carcinoma | UMLS ID:C0153395 +BMGC_DS03169,BMG_DS004373,DOID:9261 | nasopharynx carcinoma | UMLS ID:C0153396 +BMGC_DS03170,BMG_DS004374,UMLS ID:C0153398 | hypopharynx cancer | DOID:8533 | MONDO:0005806 +BMGC_DS03171,BMG_DS004375,UMLS ID:C0153400 | pyriform sinus cancer | MONDO:0004733 | DOID:9235 +BMGC_DS03172,BMG_DS004376,UMLS ID:C0153401 | MONDO:0004637 | aryepiglottic fold cancer | DOID:8663 +BMGC_DS03173,BMG_DS004378,DOID:8937 | UMLS ID:C0153406 | Waldeyer's ring cancer | MONDO:0004685 +BMGC_DS03174,BMG_DS004380,UMLS ID:C0153413 | DOID:5041 | esophageal cancer +BMGC_DS03175,BMG_DS004381,UMLS ID:C0153414 | DOID:5041 | esophageal cancer +BMGC_DS03176,BMG_DS004382,DOID:5041 | UMLS ID:C0153415 | esophageal cancer +BMGC_DS03177,BMG_DS004383,UMLS ID:C0153416 | DOID:5041 | esophageal cancer +BMGC_DS03178,BMG_DS004384,UMLS ID:C0153417 | DOID:10548 | cardia cancer | MONDO:0001063 +BMGC_DS03179,BMG_DS004385,MONDO:0001061 | pylorus cancer | UMLS ID:C0153418 | DOID:10544 +BMGC_DS03180,BMG_DS004386,UMLS ID:C0153419 | pyloric antrum cancer | MONDO:0001062 | DOID:10547 +BMGC_DS03181,BMG_DS004387,gastric fundus cancer | DOID:10538 | UMLS ID:C0153420 +BMGC_DS03182,BMG_DS004388,DOID:10534 | stomach cancer | UMLS ID:C0153421 +BMGC_DS03183,BMG_DS004389,DOID:10534 | UMLS ID:C0153422 | stomach cancer +BMGC_DS03184,BMG_DS004390,DOID:10534 | UMLS ID:C0153423 | stomach cancer +BMGC_DS03185,BMG_DS004391,DOID:10154 | MONDO:0000956 | UMLS ID:C0153425 | small intestine cancer +BMGC_DS03186,BMG_DS004392,UMLS ID:C0153426 | MONDO:0000920 | DOID:10021 | duodenum cancer +BMGC_DS03187,BMG_DS004393,UMLS ID:C0153427 | jejunal cancer | DOID:13499 | MONDO:0006815 +BMGC_DS03188,BMG_DS004394,ileum cancer | DOID:10153 | UMLS ID:C0153428 +BMGC_DS03189,BMG_DS004395,UMLS ID:C0153429 | DOID:10152 | Meckel's diverticulum cancer | MONDO:0000954 | Meckel diverticulum cancer +BMGC_DS03190,BMG_DS004396,MONDO:0002357 | UMLS ID:C0153433 | DOID:260 | hepatic flexure cancer +BMGC_DS03191,BMG_DS004397,UMLS ID:C0153434 | DOID:261 | transverse colon cancer | MONDO:0002361 +BMGC_DS03192,BMG_DS004398,MONDO:0001462 | descending colon cancer | UMLS ID:C0153435 | DOID:12190 +BMGC_DS03193,BMG_DS004399,sigmoid colon cancer | UMLS ID:C0153436 | MONDO:0001464 | DOID:12192 +BMGC_DS03194,BMG_DS004400,cecum cancer | DOID:1521 | MONDO:0002033 | UMLS ID:C0153437 +BMGC_DS03195,BMG_DS004401,MONDO:0002238 | DOID:218 | ascending colon cancer | UMLS ID:C0153439 +BMGC_DS03196,BMG_DS004402,MONDO:0001463 | splenic flexure cancer | DOID:12191 | UMLS ID:C0153440 +BMGC_DS03197,BMG_DS004403,rectosigmoid junction cancer | UMLS ID:C0153443 | MONDO:0002425 | DOID:2782 +BMGC_DS03198,BMG_DS004404,anal canal cancer | anus cancer | MONDO:0000405 | DOID:14110 | UMLS ID:C0153445 +BMGC_DS03199,BMG_DS004405,UMLS ID:C0153446 | anus cancer | DOID:14110 | MONDO:0001879 +BMGC_DS03200,BMG_DS004406,DOID:3121 | UMLS ID:C0153452 | gallbladder cancer | MONDO:0005411 +BMGC_DS03201,BMG_DS004407,malignant tumor of extrahepatic bile duct | UMLS ID:C0153453 | MONDO:0021321 | bile duct cancer | DOID:4606 +BMGC_DS03202,BMG_DS004408,UMLS ID:C0153454 | MONDO:0000919 | ampulla of vater cancer | DOID:10020 | ampulla of Vater cancer +BMGC_DS03203,BMG_DS004409,UMLS ID:C0153458 | DOID:1793 | pancreatic cancer +BMGC_DS03204,BMG_DS004410,pancreatic cancer | DOID:1793 | UMLS ID:C0153459 +BMGC_DS03205,BMG_DS004411,UMLS ID:C0153460 | DOID:1793 | pancreatic cancer +BMGC_DS03206,BMG_DS004412,UMLS ID:C0153461 | pancreatic ductal carcinoma | DOID:3587 +BMGC_DS03207,BMG_DS004413,UMLS ID:C0153463 | DOID:1793 | pancreatic cancer +BMGC_DS03208,BMG_DS004414,UMLS ID:C0153464 | DOID:5875 | retroperitoneal cancer +BMGC_DS03209,BMG_DS004415,UMLS ID:C0153465 | MONDO:0005941 | DOID:5875 | retroperitoneal cancer +BMGC_DS03210,BMG_DS004416,peritoneum cancer | UMLS ID:C0153466 | DOID:1725 +BMGC_DS03211,BMG_DS004417,UMLS ID:C0153467 | peritoneum cancer | MONDO:0002087 +BMGC_DS03212,BMG_DS004418,UMLS ID:C0153470 | MONDO:0005966 | spleen cancer | DOID:672 +BMGC_DS03213,BMG_DS004420,DOID:1357 | UMLS ID:C0153476 | maxillary sinus cancer +BMGC_DS03214,BMG_DS004421,UMLS ID:C0153477 | DOID:1363 | ethmoid sinus cancer | MONDO:0001763 +BMGC_DS03215,BMG_DS004422,DOID:1360 | frontal sinus cancer | MONDO:0001756 | UMLS ID:C0153478 +BMGC_DS03216,BMG_DS004423,DOID:14546 | sphenoidal sinus cancer | UMLS ID:C0153479 | MONDO:0001994 +BMGC_DS03217,BMG_DS004424,MONDO:0002351 | UMLS ID:C0153483 | DOID:2595 | glottis cancer +BMGC_DS03218,BMG_DS004425,UMLS ID:C0153484 | MONDO:0001724 | supraglottis cancer | DOID:13476 +BMGC_DS03219,BMG_DS004426,UMLS ID:C0153485 | subglottis cancer | MONDO:0001293 | DOID:11472 +BMGC_DS03220,BMG_DS004427,MONDO:0001691 | laryngeal cartilage cancer | DOID:13348 | UMLS ID:C0153486 +BMGC_DS03221,BMG_DS004428,UMLS ID:C0153489 | MONDO:0001407 | tracheal cancer | DOID:11920 +BMGC_DS03222,BMG_DS004429,DOID:3924 | UMLS ID:C0153490 | main bronchus cancer | MONDO:0002811 +BMGC_DS03223,BMG_DS004430,DOID:1324 | lung cancer | UMLS ID:C0153491 +BMGC_DS03224,BMG_DS004431,DOID:1324 | lung cancer | UMLS ID:C0153492 +BMGC_DS03225,BMG_DS004432,DOID:1324 | UMLS ID:C0153493 | lung cancer +BMGC_DS03226,BMG_DS004433,MONDO:0006294 | UMLS ID:C0153494 | DOID:5158 | pleural cancer +BMGC_DS03227,BMG_DS004434,malignant parietal pleura tumor | MONDO:0001861 | DOID:14032 | UMLS ID:C0153495 +BMGC_DS03228,BMG_DS004435,MONDO:0001862 | UMLS ID:C0153496 | DOID:14033 | malignant visceral pleura tumor +BMGC_DS03229,BMG_DS004436,MONDO:0001340 | heart cancer | DOID:117 | UMLS ID:C0153500 +BMGC_DS03230,BMG_DS004437,UMLS ID:C0153502 | DOID:436 | MONDO:0002972 | posterior mediastinum cancer +BMGC_DS03231,BMG_DS004438,DOID:5559 | MONDO:0005843 | UMLS ID:C0153504 | mediastinal cancer +BMGC_DS03232,BMG_DS004439,UMLS ID:C0153511 | mandibular cancer | DOID:2338 | MONDO:0005837 +BMGC_DS03233,BMG_DS004440,long bones of lower limb cancer | DOID:10149 | UMLS ID:C0153517 +BMGC_DS03234,BMG_DS004441,malignant neoplasm of short bones of lower limb | DOID:10151 | cancer of short bone of lower limb | UMLS ID:C0153518 | MONDO:0000953 +BMGC_DS03235,BMG_DS004442,UMLS ID:C0153519 | DOID:1115 | sarcoma +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,Kaposi's sarcoma | DOID:8632 | UMLS ID:C0153562 +BMGC_DS03239,BMG_DS004452,Kaposi's sarcoma | DOID:8632 | UMLS ID:C0153563 +BMGC_DS03240,BMG_DS004453,Kaposi's sarcoma | DOID:8632 | UMLS ID:C0153564 +BMGC_DS03241,BMG_DS004454,Kaposi's sarcoma | DOID:8632 | UMLS ID:C0153565 +BMGC_DS03242,BMG_DS004455,UMLS ID:C0153567 | DOID:363 | MONDO:0002715 | uterine cancer +BMGC_DS03243,BMG_DS004457,DOID:2021 | placenta cancer | UMLS ID:C0153572 | MONDO:0002178 +BMGC_DS03244,BMG_DS004458,DOID:9460 | UMLS ID:C0153574 | uterine corpus cancer +BMGC_DS03245,BMG_DS004459,isthmus cancer | DOID:9459 | MONDO:0004792 | UMLS ID:C0153575 | cancer of isthmus of fallopian tube +BMGC_DS03246,BMG_DS004460,DOID:11747 | UMLS ID:C0153577 | uterine adnexa cancer +BMGC_DS03247,BMG_DS004461,UMLS ID:C0153579 | fallopian tube cancer | MONDO:0002158 | DOID:1964 +BMGC_DS03248,BMG_DS004462,UMLS ID:C0153581 | parametrium malignant neoplasm | MONDO:0001350 | DOID:11746 +BMGC_DS03249,BMG_DS004463,UMLS ID:C0153584 | DOID:11747 | uterine adnexa cancer | MONDO:0001351 +BMGC_DS03250,BMG_DS004464,UMLS ID:C0153585 | DOID:120 | female reproductive organ cancer +BMGC_DS03251,BMG_DS004465,clitoris cancer | UMLS ID:C0153589 | MONDO:0002290 | DOID:2401 +BMGC_DS03252,BMG_DS004466,DOID:2998 | UMLS ID:C0153594 | MONDO:0005447 | testicular cancer +BMGC_DS03253,BMG_DS004467,DOID:12276 | MONDO:0001480 | UMLS ID:C0153595 | malignant tumor of undescended testis +BMGC_DS03254,BMG_DS004468,UMLS ID:C0153598 | MONDO:0001653 | DOID:13168 | prepuce cancer +BMGC_DS03255,BMG_DS004469,MONDO:0001388 | glans penis cancer | UMLS ID:C0153599 | DOID:11839 +BMGC_DS03256,BMG_DS004470,UMLS ID:C0153600 | penile cancer | DOID:11615 +BMGC_DS03257,BMG_DS004471,penile cancer | UMLS ID:C0153601 | DOID:11615 | MONDO:0001325 +BMGC_DS03258,BMG_DS004472,MONDO:0001016 | epididymis cancer | DOID:10366 | UMLS ID:C0153602 +BMGC_DS03259,BMG_DS004473,spermatic cord cancer | UMLS ID:C0153603 | MONDO:0001654 | DOID:13169 +BMGC_DS03260,BMG_DS004474,MONDO:0021112 | UMLS ID:C0153604 | DOID:518 | scrotum cancer | scrotum neoplasm +BMGC_DS03261,BMG_DS004475,UMLS ID:C0153606 | male reproductive organ cancer | MONDO:0005836 | DOID:3856 +BMGC_DS03262,BMG_DS004476,MONDO:0001376 | UMLS ID:C0153611 | DOID:11814 | urinary bladder anterior wall cancer +BMGC_DS03263,BMG_DS004477,urinary bladder posterior wall cancer | DOID:11811 | MONDO:0001373 | UMLS ID:C0153612 +BMGC_DS03264,BMG_DS004478,UMLS ID:C0153613 | DOID:11809 | bladder neck cancer | MONDO:0001372 +BMGC_DS03265,BMG_DS004479,ureteric orifice cancer | DOID:11818 | UMLS ID:C0153614 | MONDO:0001379 +BMGC_DS03266,BMG_DS004480,DOID:11817 | urachus cancer | UMLS ID:C0153615 | MONDO:0001378 +BMGC_DS03267,BMG_DS004481,renal pelvis carcinoma | DOID:4919 | UMLS ID:C0153618 | MONDO:0044919 | malignant renal pelvis neoplasm +BMGC_DS03268,BMG_DS004482,ureter cancer | DOID:11819 | OMIM ID:191600 | MONDO:0008627 | UMLS ID:C0153619 +BMGC_DS03269,BMG_DS004483,UMLS ID:C0153620 | MONDO:0004192 | urethra cancer | DOID:734 +BMGC_DS03270,BMG_DS004484,MONDO:0001869 | UMLS ID:C0153621 | paraurethral gland cancer | DOID:14059 +BMGC_DS03271,BMG_DS004485,UMLS ID:C0153626 | DOID:4143 | orbital cancer | MONDO:0002889 +BMGC_DS03272,BMG_DS004486,lacrimal gland cancer | UMLS ID:C0153627 | DOID:294 | MONDO:0002464 +BMGC_DS03273,BMG_DS004487,MONDO:0003454 | UMLS ID:C0153628 | DOID:5467 | conjunctival cancer +BMGC_DS03274,BMG_DS004488,MONDO:0003802 | UMLS ID:C0153629 | DOID:6199 | cornea cancer +BMGC_DS03275,BMG_DS004489,DOID:12759 | choroid cancer | MONDO:0006700 | UMLS ID:C0153630 +BMGC_DS03276,BMG_DS004490,MONDO:0001580 | lacrimal duct cancer | UMLS ID:C0153631 | DOID:12756 +BMGC_DS03277,BMG_DS004491,ocular cancer | UMLS ID:C0153632 | DOID:2174 +BMGC_DS03278,BMG_DS004492,brain cancer | UMLS ID:C0153633 | DOID:1319 | MONDO:0001657 +BMGC_DS03279,BMG_DS004493,frontal lobe neoplasm | UMLS ID:C0153635 | DOID:12016 +BMGC_DS03280,BMG_DS004494,temporal lobe neoplasm | MONDO:0002218 | temporal lobe cancer | UMLS ID:C0153636 | DOID:2135 +BMGC_DS03281,BMG_DS004495,DOID:14384 | MONDO:0001952 | UMLS ID:C0153637 | parietal lobe neoplasm | parietal lobe cancer +BMGC_DS03282,BMG_DS004496,occipital lobe neoplasm | DOID:910 | UMLS ID:C0153638 +BMGC_DS03283,BMG_DS004497,cerebellum cancer | cancer of cerebellum | DOID:4205 | UMLS ID:C0153640 | MONDO:0021317 +BMGC_DS03284,BMG_DS004498,UMLS ID:C0153641 | brainstem cancer | MONDO:0002912 | DOID:4203 | brain stem cancer +BMGC_DS03285,BMG_DS004499,DOID:368 | UMLS ID:C0153642 | cerebrum cancer +BMGC_DS03286,BMG_DS004500,nervous system cancer | UMLS ID:C0153643 | DOID:3093 +BMGC_DS03287,BMG_DS004501,cranial nerve malignant neoplasm | MONDO:0002433 | UMLS ID:C0153644 | malignant cranial nerve neoplasm | DOID:2815 +BMGC_DS03288,BMG_DS004502,spinal cord cancer | DOID:5612 | spinal cancer | UMLS ID:C0153646 | MONDO:0003544 +BMGC_DS03289,BMG_DS004503,spinal meninges cancer | UMLS ID:C0153647 | DOID:7224 | MONDO:0004151 +BMGC_DS03290,BMG_DS004504,DOID:1540 | malignant tumor of parathyroid gland | MONDO:0021311 | UMLS ID:C0153653 | parathyroid carcinoma +BMGC_DS03291,BMG_DS004505,UMLS ID:C0153655 | DOID:5032 | MONDO:0003249 | pineal gland cancer +BMGC_DS03292,BMG_DS004506,UMLS ID:C0153656 | MONDO:0004650 | DOID:8731 | carotid body cancer | malignant carotid body paraganglioma +BMGC_DS03293,BMG_DS004507,UMLS ID:C0153658 | endocrine gland cancer | DOID:170 | malignant endocrine neoplasm | MONDO:0021069 +BMGC_DS03294,BMG_DS004508,UMLS ID:C0153661 | MONDO:0003274 | DOID:5093 | thoracic cancer +BMGC_DS03295,BMG_DS004510,intrapelvic lymph node leukemic reticuloendotheliosis | UMLS ID:C0153831 | DOID:12972 | MONDO:0001607 +BMGC_DS03296,BMG_DS004511,DOID:709 | UMLS ID:C0153832 | splenic manifestation of hairy cell leukemia +BMGC_DS03297,BMG_DS004512,MONDO:0001614 | UMLS ID:C0153844 | DOID:13005 | intra-abdominal lymph node mast cell malignancy +BMGC_DS03298,BMG_DS004513,UMLS ID:C0153903 | monocytic leukemia | DOID:8527 +BMGC_DS03299,BMG_DS004514,UMLS ID:C0153924 | MONDO:0002582 | subacute leukemia | DOID:3264 +BMGC_DS03300,BMG_DS004530,DOID:10188 | skin lipoma | UMLS ID:C0153968 | lipoma of face | MONDO:0021630 +BMGC_DS03301,BMG_DS004531,MONDO:0000975 | lipoma of spermatic cord | DOID:10206 | UMLS ID:C0153972 +BMGC_DS03302,BMG_DS004532,DOID:13222 | UMLS ID:C0153993 | submucous uterine fibroid | MONDO:0001664 +BMGC_DS03303,BMG_DS004533,uterus interstitial leiomyoma | UMLS ID:C0153994 | MONDO:0001843 | DOID:13955 +BMGC_DS03304,BMG_DS004534,subserous uterine fibroid | DOID:13560 | UMLS ID:C0153995 | MONDO:0001745 +BMGC_DS03305,BMG_DS004535,cervical polyp | DOID:0060325 | UMLS ID:C0153996 +BMGC_DS03306,BMG_DS004558,DOID:2517 | MONDO:0002328 | intracranial structure hemangioma | UMLS ID:C0154050 | intracranial hemangioma +BMGC_DS03307,BMG_DS004560,intra-abdominal hemangioma | UMLS ID:C0154052 | hemangioma of intra-abdominal structure | MONDO:0002337 | DOID:254 +BMGC_DS03308,BMG_DS004563,MONDO:0004708 | esophagus carcinoma in situ | DOID:9095 | UMLS ID:C0154059 +BMGC_DS03309,BMG_DS004564,UMLS ID:C0154060 | DOID:9138 | MONDO:0004716 | stomach carcinoma in situ +BMGC_DS03310,BMG_DS004565,DOID:8826 | colon carcinoma in situ | UMLS ID:C0154061 | MONDO:0004663 +BMGC_DS03311,BMG_DS004566,UMLS ID:C0154062 | MONDO:0004725 | rectum carcinoma in situ | DOID:9174 +BMGC_DS03312,BMG_DS004567,UMLS ID:C0154064 | DOID:9087 | anal carcinoma in situ +BMGC_DS03313,BMG_DS004568,UMLS ID:C0154065 | DOID:9024 | intestine carcinoma in situ +BMGC_DS03314,BMG_DS004569,larynx carcinoma in situ | UMLS ID:C0154069 | MONDO:0004696 | DOID:9011 +BMGC_DS03315,BMG_DS004570,UMLS ID:C0154070 | MONDO:0004661 | DOID:8802 | trachea carcinoma in situ +BMGC_DS03316,BMG_DS004571,lung carcinoma in situ | UMLS ID:C0154071 | DOID:8800 +BMGC_DS03317,BMG_DS004572,skin carcinoma in situ | DOID:8687 | MONDO:0004641 | UMLS ID:C0154073 +BMGC_DS03318,BMG_DS004573,skin carcinoma in situ | UMLS ID:C0154074 | DOID:8687 +BMGC_DS03319,BMG_DS004574,skin carcinoma in situ | DOID:8687 | UMLS ID:C0154077 +BMGC_DS03320,BMG_DS004575,skin carcinoma in situ | DOID:8687 | UMLS ID:C0154078 +BMGC_DS03321,BMG_DS004576,UMLS ID:C0154079 | skin carcinoma in situ | DOID:8687 +BMGC_DS03322,BMG_DS004577,skin carcinoma in situ | DOID:8687 | UMLS ID:C0154080 +BMGC_DS03323,BMG_DS004578,skin carcinoma in situ | DOID:8687 | UMLS ID:C0154081 +BMGC_DS03324,BMG_DS004579,breast carcinoma in situ | UMLS ID:C0154084 | MONDO:0004658 | DOID:8791 +BMGC_DS03325,BMG_DS004580,DOID:9108 | UMLS ID:C0154086 | uterus carcinoma in situ +BMGC_DS03326,BMG_DS004581,DOID:8634 | UMLS ID:C0154088 | prostate carcinoma in situ +BMGC_DS03327,BMG_DS004582,DOID:8872 | penis carcinoma in situ | MONDO:0004671 | UMLS ID:C0154089 +BMGC_DS03328,BMG_DS004583,bladder carcinoma in situ | MONDO:0004703 | UMLS ID:C0154091 | DOID:9053 +BMGC_DS03329,BMG_DS004584,kidney carcinoma in situ | DOID:9234 | UMLS ID:C0154092 +BMGC_DS03330,BMG_DS004585,MONDO:0004659 | DOID:8792 | UMLS ID:C0154094 | eye carcinoma in situ +BMGC_DS03331,BMG_DS004586,DOID:10719 | toxic diffuse goiter | UMLS ID:C0154138 +BMGC_DS03332,BMG_DS004591,SNOMEDCT ID:27059002 | postsurgical hypothyroidism | Postoperative hypothyroidism | Postsurgical hypothyroidism | UMLS ID:C0154157 | MONDO:0002002 | Postoperative hypothyroidism (disorder) | DOID:1458 | Hypothyroidism after surgery +BMGC_DS03333,BMG_DS004593,iodine hypothyroidism | UMLS ID:C0154159 | Iodine hypothyroidism | MONDO:0003271 | Iodine hypothyroidism (disorder) | DOID:5083 | SNOMEDCT ID:190279008 +BMGC_DS03334,BMG_DS004595,Ligneous thyroiditis | MONDO:0018992 | Riedel thyroiditis | Thyroiditis: [chronic fibrous] or [Riedel's] (disorder) | SNOMEDCT ID:89024000 | Riedel's thyroiditis | SNOMEDCT ID:190298005 | Chronic fibrous thyroiditis | Struma fibrosa thyroid | Invasive fibrous thyroiditis | DOID:14351 | Woody thyroiditis | IgG4-related thyroid disease | Riedel's fibrosing thyroiditis | UMLS ID:C0154162 | Riedel's thyroiditis (disorder) | Thyroiditis: [chronic fibrous] or [Riedel's] +BMGC_DS03335,BMG_DS004599,DOID:1428 | Other disorders of pancreatic internal secretion (disorder) | UMLS ID:C0154189 | Other disorders of pancreatic internal secretion | endocrine pancreas disease | ICD10 ID:E16 | SNOMEDCT ID:190427005 +BMGC_DS03336,BMG_DS004600,DOID:2181 | MONDO:0002239 | Post-surgical hypoinsulinemia | Post-surgical hypoinsulinemia (disorder) | SNOMEDCT ID:190437000 | Postsurgical hypoinsulinaemia | Postoperative hypoinsulinemia | post-surgical hypoinsulinemia | Post-surgical hypoinsulinaemia | UMLS ID:C0154190 | Postsurgical hypoinsulinemia | Postoperative hypoinsulinaemia +BMGC_DS03337,BMG_DS004601,Abnormality of glucagon secretion | SNOMEDCT ID:11178005 | Abnormality of secretion of glucagon | MONDO:0001962 | Abnormality of secretion of glucagon (disorder) | abnormality of glucagon secretion | UMLS ID:C0154191 | DOID:14427 +BMGC_DS03338,BMG_DS004605,SNOMEDCT ID:20673009 | UMLS ID:C0154199 | DOID:533 | Thymus disorder | Disorder of thymus gland | Disease of thymus gland | Disorder of thymus gland (disorder) | thymus gland disease | Disorder of thymus | thymus gland disorder | MONDO:0003393 +BMGC_DS03339,BMG_DS004608,MONDO:0001473 | Medulloadrenal hyperfunction (disorder) | UMLS ID:C0154206 | medulloadrenal hyperfunction | SNOMEDCT ID:111565003 | DOID:12257 | Medulloadrenal hyperfunction +BMGC_DS03340,BMG_DS004611,Oestrogen excess | Hyperoestrogenism | SNOMEDCT ID:37295009 | DOID:14336 | estrogen excess | Estrogen excess | UMLS ID:C0154209 | Hyperestrogenism | Estrogen excess (disorder) | Hyperestrogenism (disorder) | SNOMEDCT ID:190533004 +BMGC_DS03341,BMG_DS004619,SNOMEDCT ID:111546006 | Polyglandular dysfunction | UMLS ID:C0154222 | ICD10 ID:E31 | Polyglandular dysfunction (disorder) +BMGC_DS03342,BMG_DS004632,"UMLS ID:C0154246 | DOID:9267 | MeSH ID:D056806 | urea cycle disorder | MONDO:0004739 | Urea Cycle Disorders, Inborn" +BMGC_DS03343,BMG_DS004633,UMLS ID:C0154251 | Lipid Metabolism Disorders | MONDO:0002525 | inherited lipid metabolism disorder | MeSH ID:D052439 +BMGC_DS03344,BMG_DS004634,Polyclonal hypergammaglobulinemia | SNOMEDCT ID:190808009 | DOID:2344 | ICD10 ID:D89.0 | Polyclonal hypergammaglobulinemia (disorder) | polyclonal hypergammaglobulinemia | MONDO:0002272 | ICD11 ID:4B21 | Polyclonal hypergammaglobulinaemia | UMLS ID:C0154254 +BMGC_DS03345,BMG_DS004640,DOID:2115 | UMLS ID:C0154276 | B cell deficiency +BMGC_DS03346,BMG_DS004646,DOID:13120 | Anemia due to protein deficiency | MONDO:0001638 | Anaemia related to kwashiorkor | Protein deficiency anemia | protein-deficiency anemia | Protein deficiency anaemia | Anaemia due to protein deficiency | Anemia due to protein deficiency (disorder) | UMLS ID:C0154290 | Anemia related to kwashiorkor | SNOMEDCT ID:85746008 +BMGC_DS03347,BMG_DS004650,MONDO:0001198 | Acquired thrombocytopenia | SNOMEDCT ID:74576004 | UMLS ID:C0154301 | acquired thrombocytopenia | DOID:11126 | Acquired thrombocytopenia (disorder) +BMGC_DS03348,BMG_DS004651,Chronic lymphadenitis (disorder) | Chronic lymphadenitis | Chronic adenitis | lymphadenitis | UMLS ID:C0154304 | DOID:1602 | SNOMEDCT ID:154836001 | SNOMEDCT ID:32035007 +BMGC_DS03349,BMG_DS004654,DOID:1307 | dementia | UMLS ID:C0154319 +BMGC_DS03350,BMG_DS004655,UMLS ID:C0154325 | drug-induced mental disorder | DOID:1203 +BMGC_DS03351,BMG_DS004657,UMLS ID:C0154333 | subacute delirium | MONDO:0004629 | DOID:8645 +BMGC_DS03352,BMG_DS004658,DOID:8646 | UMLS ID:C0154334 | substance-induced psychosis +BMGC_DS03353,BMG_DS004659,UMLS ID:C0154409 | DOID:1470 | major depressive disorder +BMGC_DS03354,BMG_DS004660,DOID:12294 | atypical depressive disorder | MONDO:0001485 | UMLS ID:C0154437 +BMGC_DS03355,BMG_DS004661,pervasive developmental disorder | UMLS ID:C0154451 | DOID:0060040 +BMGC_DS03356,BMG_DS004662,DOID:11120 | psychologic dyspareunia | MONDO:0001196 | UMLS ID:C0154466 +BMGC_DS03357,BMG_DS004663,barbiturate dependence | DOID:2575 | UMLS ID:C0154482 +BMGC_DS03358,BMG_DS004664,UMLS ID:C0154529 | DOID:8519 | barbiturate abuse +BMGC_DS03359,BMG_DS004665,UMLS ID:C0154536 | amphetamine abuse | DOID:670 +BMGC_DS03360,BMG_DS004666,DOID:11718 | UMLS ID:C0154540 | antidepressant type abuse +BMGC_DS03361,BMG_DS004669,UMLS ID:C0154564 | sleep disorder | DOID:535 +BMGC_DS03362,BMG_DS004670,rumination disorder | UMLS ID:C0154575 | DOID:11507 | MONDO:0001301 +BMGC_DS03363,BMG_DS004671,DOID:13365 | UMLS ID:C0154631 | reading disorder +BMGC_DS03364,BMG_DS004672,SNOMEDCT ID:4510004 | DOID:11574 | Streptococcal meningitis (disorder) | MONDO:0001316 | ICD10 ID:G00.2 | UMLS ID:C0154639 | Meningitis due to Streptococcus | Streptococcal meningitis | streptococcal meningitis | ICD11 ID:1B53 +BMGC_DS03365,BMG_DS004673,Staphylococcal meningitis | SNOMEDCT ID:12166008 | Staphylococcal meningitis (disorder) | ICD11 ID:1B54 | UMLS ID:C0154640 | ICD10 ID:G00.3 | Meningitis due to Staphylococcus +BMGC_DS03366,BMG_DS004675,Sarcoid meningitis | ICD10 ID:D86.81 | UMLS ID:C0154648 | Meningeal sarcoidosis | Meningitis due to sarcoidosis | sarcoid meningitis | Sarcoid meningitis (disorder) | DOID:12055 | SNOMEDCT ID:192673008 +BMGC_DS03367,BMG_DS004677,eosinophilic meningitis | Eosinophilic meningitis | UMLS ID:C0154652 | MONDO:0001015 | DOID:10361 | SNOMEDCT ID:25671008 | Eosinophilic meningitis (disorder) +BMGC_DS03368,BMG_DS004678,"chronic meningitis | ICD11 ID:8E40.Z | Disorders of the meninges excluding infection, unspecified | ICD10 ID:G03.1 | Chronic meningitis | SNOMEDCT ID:21664006 | Chronic meningitis (disorder) | DOID:10341 | UMLS ID:C0154653 | MONDO:0001007" +BMGC_DS03369,BMG_DS004683,(Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) (disorder) | SNOMEDCT ID:45864009 | MONDO:0001987 | Child cerebral degeneration | senile degeneration of brain | Hydrocephalus | Senile brain degen. | Senile degeneration of brain (disorder) | Senile degeneration of brain | SNOMEDCT ID:267687006 | SNOMEDCT ID:154996004 | Age-related degeneration of brain | SNOMEDCT ID:154995000 | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) | SNOMEDCT ID:192804001 | DOID:14524 | UMLS ID:C0154669 +BMGC_DS03370,BMG_DS004684,UMLS ID:C0154671 | Degenerative brain disorder (disorder) | MONDO:0024238 | Degenerative brain disorder | cerebral degeneration | SNOMEDCT ID:52522001 | DOID:1443 +BMGC_DS03371,BMG_DS004685,Symptomatic torsion dystonia (disorder) | (Symptomatic torsion dystonia) or (athetoid cerebral palsy) or (congenital athetosis) or (Vogt's disease) | Athetosis - congenital | Symptomatic torsion dystonia | (Symptomatic torsion dystonia) or (athetoid cerebral palsy) or (congenital athetosis) or (Vogt's disease) (disorder) | SNOMEDCT ID:192853001 | Athetoid cerebral palsy | DOID:0050835 | UMLS ID:C0154674 | SNOMEDCT ID:55776008 | Vogt's disease | SNOMEDCT ID:267584007 | generalized dystonia +BMGC_DS03372,BMG_DS004686,SNOMEDCT ID:192859002 | UMLS ID:C0154675 | Fragments of torsion dystonia | Fragments of torsion dystonia (disorder) | DOID:0050835 | generalized dystonia +BMGC_DS03373,BMG_DS004688,Motor Neuron Disease | anterior horn cell disease | MeSH ID:D016472 | UMLS ID:C0154681 | MONDO:0003182 | Anterior Horn Cell Disease | anterior horn disorder | DOID:4873 +BMGC_DS03374,BMG_DS004689,MONDO:0018155 | UMLS ID:C0154682 | DOID:230 | Motor Neuron Disease | lateral sclerosis | Lateral Sclerosis | MeSH ID:D016472 +BMGC_DS03375,BMG_DS004690,MONDO:0002552 | DOID:320 | Vascular myelopathy (disorder) | UMLS ID:C0154685 | SNOMEDCT ID:29774004 | vascular myelopathy | Vascular myelopathy +BMGC_DS03376,BMG_DS004693,MONDO:0001295 | Idiopathic peripheral autonomic neuropathy (disorder) | Idiopathic peripheral autonomic neuropathy | SNOMEDCT ID:86489003 | idiopathic peripheral autonomic neuropathy | ICD10 ID:G90.0 | DOID:11488 | Other specified autonomic neuropathies | ICD11 ID:8D88.Y | SNOMEDCT ID:192914009 | UMLS ID:C0154690 +BMGC_DS03377,BMG_DS004694,autonomic nervous system disease | DOID:11465 | UMLS ID:C0154691 +BMGC_DS03378,BMG_DS004696,"UMLS ID:C0154693 | MeSH ID:D006429 | Hemiplegia | Hemiplegia, Flaccid" +BMGC_DS03379,BMG_DS004697,"spastic hemiplegia | Hemiplegia, Spastic | MONDO:0001168 | UMLS ID:C0154694 | Hemiplegia | MeSH ID:D006429" +BMGC_DS03380,BMG_DS004698,MeSH ID:D002547 | Cerebral Palsy | UMLS ID:C0154695 | spastic diplegia | Diplegic Infantile Cerebral Palsy | DOID:10965 +BMGC_DS03381,BMG_DS004699,"MeSH ID:D002547 | Cerebral Palsy | DOID:10970 | Cerebral Palsy, Quadriplegic, Infantile | UMLS ID:C0154697 | spastic quadriplegic cerebral palsy" +BMGC_DS03382,BMG_DS004700,MeSH ID:D002547 | Cerebral Palsy | DOID:10968 | spastic monoplegia | MONDO:0001169 | Monoplegic Infantile Cerebral Palsy | UMLS ID:C0154698 +BMGC_DS03383,BMG_DS004702,"Diplegia of upper limbs | diplegia of upper limb | ICD11 ID:MB51.Z | Diplegia of upper limbs (disorder) | UMLS ID:C0154701 | SNOMEDCT ID:54099005 | MONDO:0004618 | Diplegia of upper extremities, unspecified | DOID:862 | SNOMEDCT ID:192968004 | ICD10 ID:G83.0 | Upper diplegia | Paralysis of both upper limbs" +BMGC_DS03384,BMG_DS004706,DOID:5129 | UMLS ID:C0154712 | simple partial epilepsy +BMGC_DS03385,BMG_DS004707,MONDO:0005475 | UMLS ID:C0154723 | migraine with aura | Migraine with Aura | DOID:10024 | MeSH ID:D020325 +BMGC_DS03386,BMG_DS004711,glossopharyngeal nerve disease | DOID:3418 | ICD10 ID:G52 | UMLS ID:C0154730 | Disorders of other cranial nerves +BMGC_DS03387,BMG_DS004712,MONDO:0016372 | MeSH ID:D020435 | glossopharyngeal neuralgia | Glossopharyngeal Neuralgia | DOID:14423 | Glossopharyngeal Nerve Diseases | UMLS ID:C0154731 +BMGC_DS03388,BMG_DS004713,UMLS ID:C0154733 | Multiple cranial nerve palsy (disorder) | DOID:13866 | MONDO:0001819 | multiple cranial nerve palsy | SNOMEDCT ID:78152008 | Multiple cranial nerve palsy +BMGC_DS03389,BMG_DS004714,Lumbosacral plexus lesion (disorder) | SNOMEDCT ID:4062006 | UMLS ID:C0154735 | Lumbosacral plexus lesion | MONDO:0001829 | DOID:13913 | lumbosacral plexus lesion +BMGC_DS03390,BMG_DS004718,DOID:572 | Mononeuritis of upper limb and mononeuritis multiplex | Mononeuritis of upper limb and mononeuritis multiplex (disorder) | SNOMEDCT ID:193125009 | neuritis of upper limb | MONDO:0003607 | SNOMEDCT ID:155072002 | UMLS ID:C0154741 | mononeuritis of upper limb and mononeuritis multiplex +BMGC_DS03391,BMG_DS004719,UMLS ID:C0154742 | DOID:571 | median neuropathy +BMGC_DS03392,BMG_DS004720,DOID:4613 | UMLS ID:C0154743 | ulnar neuropathy | MONDO:0007006 | Ulnar Neuropathies | MeSH ID:D020424 +BMGC_DS03393,BMG_DS004721,Radial neuropathy | Radial neuropathy (disorder) | Lesion of radial nerve | Lesion of radial nerve (disorder) | SNOMEDCT ID:193137006 | ICD10 ID:G56.3 | SNOMEDCT ID:16644004 | ICD11 ID:8C10.2 | DOID:12170 | MONDO:0006940 | radial nerve lesion | Radial nerve lesion | UMLS ID:C0154744 +BMGC_DS03394,BMG_DS004722,UMLS ID:C0154746 | DOID:1844 | mononeuritis of upper limb +BMGC_DS03395,BMG_DS004723,UMLS ID:C0154747 | Mononeuritis of lower limb | Mononeuritis of lower limb (disorder) | SNOMEDCT ID:62235007 | DOID:9473 | MONDO:0004797 | mononeuritis of lower limb +BMGC_DS03396,BMG_DS004724,MeSH ID:D020426 | DOID:12528 | Sciatic Neuropathy | UMLS ID:C0154748 | Lesion of Sciatic Nerve | lesion of sciatic nerve | MONDO:0001543 +BMGC_DS03397,BMG_DS004725,Posterior tibial neuropathy | tibial nerve palsy | Tibial neuropathy (disorder) | DOID:12529 | SNOMEDCT ID:365258000 | SNOMEDCT ID:359842002 | Tibial nerve palsy | MONDO:0001544 | Tibial nerve palsy (disorder) | UMLS ID:C0154751 | Medial popliteal neuropathy | Tibial neuropathy +BMGC_DS03398,BMG_DS004726,Plantar nerve lesion (disorder) | DOID:12524 | plantar nerve lesion | Plantar nerve lesion | UMLS ID:C0154752 | MONDO:0001541 | SNOMEDCT ID:193148004 +BMGC_DS03399,BMG_DS004728,SNOMEDCT ID:193164007 | idiopathic progressive polyneuropathy | SNOMEDCT ID:33209009 | UMLS ID:C0154756 | Idiopathic progressive polyneuropathy (disorder) | DOID:10593 | MONDO:0001073 | Idiopathic progressive polyneuropathy +BMGC_DS03400,BMG_DS004729,UMLS ID:C0154758 | inflammatory and toxic neuropathy | DOID:2537 +BMGC_DS03401,BMG_DS004730,SNOMEDCT ID:193177003 | Polyneuropathy in collagen vascular disease (disorder) | UMLS ID:C0154759 | Neuropathy in vasculitis and connective tissue disease | MONDO:0001765 | Polyneuropathy in collagen vascular disease | DOID:13649 | polyneuropathy in collagen vascular disease +BMGC_DS03402,BMG_DS004731,DOID:14184 | Drug-related polyneuropathy | Polyneuropathy caused by drug (disorder) | MONDO:0001904 | UMLS ID:C0154762 | SNOMEDCT ID:7339009 | polyneuropathy due to drug | Polyneuropathy caused by drug +BMGC_DS03403,BMG_DS004735,acute endophthalmitis | SNOMEDCT ID:1493002 | SNOMEDCT ID:193268004 | DOID:11752 | UMLS ID:C0154773 | MONDO:0017202 | Acute endophthalmitis | Acute endophthalmitis (disorder) +BMGC_DS03404,BMG_DS004736,Chronic endophthalmitis (disorder) | chronic endophthalmitis | DOID:10697 | Chronic endophthalmitis | MONDO:0017203 | UMLS ID:C0154774 | SNOMEDCT ID:13978000 | SNOMEDCT ID:193269007 +BMGC_DS03405,BMG_DS004737,DOID:9722 | UMLS ID:C0154775 | SNOMEDCT ID:12371008 | Ophthalmia nodosa | Caterpillar-hair ophthalmia | Caterpillar ophthalmia | ICD10 ID:H16.24 | ophthalmia nodosa | MONDO:0004861 | Ophthalmia nodosa (disorder) +BMGC_DS03406,BMG_DS004738,eye degenerative disease | Degenerative disorder of eye (disorder) | eye degenerative disorder | Degenerative disorder of eye | DOID:9799 | MONDO:0004884 | UMLS ID:C0154777 | Degenerative disorder of globe | SNOMEDCT ID:62585004 +BMGC_DS03407,BMG_DS004739,"UMLS ID:C0154778 | Myopia, Degenerative | MeSH ID:D047728 | DOID:11829 | degenerative myopia | MONDO:0001383" +BMGC_DS03408,BMG_DS004740,globe disease | UMLS ID:C0154780 | ICD10 ID:H44.39 | Other degenerative disorders of globe | DOID:1242 +BMGC_DS03409,BMG_DS004741,ICD10 ID:H44.44 | primary eye hypotony | Primary hypotony of eye | Primary hypotony of eye (disorder) | DOID:12349 | SNOMEDCT ID:2251002 | UMLS ID:C0154782 | MONDO:0001503 +BMGC_DS03410,BMG_DS004742,Phthysical eye | Atrophy of globe | Phthisical eye | blind hypotensive eye | SNOMEDCT ID:193291000 | Atrophia bulbi | Globe of eye shrunken | Blind hypotensive eye (disorder) | SNOMEDCT ID:4229009 | Blind hypotensive eye | UMLS ID:C0154788 | Phthisis bulbi | Phthysis bulbi | SNOMEDCT ID:23360000 | DOID:11766 | Shrunken eyeball | Eyeball atrophic | Globe of eye shrunken (disorder) | MONDO:0001360 +BMGC_DS03411,BMG_DS004743,Glaucoma - absolute | Absolute glaucoma | blind hypertensive eye | UMLS ID:C0154789 | Blind hypertensive eye (disorder) | MONDO:0001363 | (Blind hypertensive eye) or (glaucoma absolute) (disorder) | absolute glaucoma | Blind hypertensive eye | DOID:11776 | SNOMEDCT ID:193286001 | SNOMEDCT ID:264008 | (Blind hypertensive eye) or (glaucoma absolute) +BMGC_DS03412,BMG_DS004745,Luxation of eye | UMLS ID:C0154806 | luxation of globe | DOID:1241 | SNOMEDCT ID:20842008 | Luxation of globe | Luxation of eye (disorder) | MONDO:0001523 +BMGC_DS03413,BMG_DS004748,DOID:8464 | Flat retinoschisis | SNOMEDCT ID:193332006 | Flat retinoschisis (disorder) | flat retinoschisis | SNOMEDCT ID:83405000 | UMLS ID:C0154817 | MONDO:0004578 +BMGC_DS03414,BMG_DS004756,Proliferative retinopathy due to diabetes mellitus (disorder) | PDR - proliferative diabetic retinopathy | Proliferative retinopathy with diabetes mellitus | Proliferative retinopathy due to diabetes mellitus | proliferative diabetic retinopathy | DOID:13207 | SNOMEDCT ID:59276001 | UMLS ID:C0154830 | Proliferative diabetic retinopathy | SNOMEDCT ID:154679002 | Proliferative diabetic retinopathy (disorder) | MONDO:0001660 +BMGC_DS03415,BMG_DS004757,Coats disease | OMIM ID:300216 | SNOMEDCT ID:193359003 | OMIM ID:MTHU009658 | SNOMEDCT ID:25506007 | DOID:7765 | UMLS ID:C0154832 | ICD10 ID:H35.02 | MONDO:0010269 | Exudative retinopathy (disorder) | Exudative retinopathy +BMGC_DS03416,BMG_DS004758,MONDO:0002311 | retinal vascular disease | retinal vascular disorder | UMLS ID:C0154833 | DOID:2462 +BMGC_DS03417,BMG_DS004759,DOID:11295 | UMLS ID:C0154834 | MONDO:0001257 | retinal microaneurysm +BMGC_DS03418,BMG_DS004760,retinal telangiectasia | Retinal grouped capillary aneurysms | UMLS ID:C0154835 | Retinal telangiectasia (disorder) | OMIM ID:MTHU039199 | DOID:7736 | MONDO:0004348 | Retinal telangiectasia | SNOMEDCT ID:84884003 +BMGC_DS03419,BMG_DS004763,Partial retinal artery occlusion | UMLS ID:C0154839 | partial arterial retinal occlusion | Partial occlusion of retinal artery (disorder) | DOID:14522 | MONDO:0001985 | SNOMEDCT ID:776009 | Partial arterial retinal occlusion | ICD10 ID:H34.21 | Partial occlusion of retinal artery +BMGC_DS03420,BMG_DS004764,MONDO:0004583 | transient retinal arterial occlusion | DOID:8482 | SNOMEDCT ID:87224000 | Transient arterial retinal occlusion | UMLS ID:C0154840 | Transient arterial retinal occlusion (disorder) +BMGC_DS03421,BMG_DS004765,Central retinal vein occlusion | MONDO:0002303 | UMLS ID:C0154841 | ICD10 ID:H34.81 | CRVO - Central retinal vein occlusion | CRVT - Central retinal vein thrombosis | Central retinal vein thrombosis | central retinal vein occlusion | Central retinal vein occlusion (disorder) | Retinal vein thrombosis | (Central retinal vein occlusion) or (retinal vein thrombosis) | DOID:2450 | (Central retinal vein occlusion) or (retinal vein thrombosis) (disorder) | SNOMEDCT ID:68478007 | SNOMEDCT ID:193378003 +BMGC_DS03422,BMG_DS004766,venous tributary occlusion of retina | DOID:13514 | UMLS ID:C0154842 +BMGC_DS03423,BMG_DS004768,Cystoid macular retinal degeneration | SNOMEDCT ID:14046000 | cystoid macular retinal degeneration | UMLS ID:C0154850 | MONDO:0001919 | DOID:14245 | Cystoid macular retinal degeneration (disorder) +BMGC_DS03424,BMG_DS004769,Paving stone retinal degeneration (disorder) | Paving stone retinal degeneration | Pavingstone retinal degeneration | MONDO:0001456 | Cobblestone retinal degeneration | Cobblestone degeneration | Pavingstone degeneration | cobblestone retinal degeneration | Paving-stone retinal degeneration | SNOMEDCT ID:69134001 | UMLS ID:C0154854 | DOID:12166 +BMGC_DS03425,BMG_DS004770,SNOMEDCT ID:37075008 | UMLS ID:C0154855 | Blessig's cysts | Peripheral cystoid retinal degeneration | Peripheral cystoid degeneration of retina of eye (disorder) | Peripheral cystoid degeneration of retina of eye | Microcystoid retinal degeneration | Iwanoff's cysts | DOID:12164 | MONDO:0001454 +BMGC_DS03426,BMG_DS004771,Lattice retinal degeneration | UMLS ID:C0154856 | MONDO:0001455 | DOID:12165 | Retinal lattice degeneration (disorder) | SNOMEDCT ID:3577000 | Palisade degeneration of retina | Retinal lattice degeneration | Lattice degeneration | LD - Lattice degeneration | retinal lattice degeneration +BMGC_DS03427,BMG_DS004772,UMLS ID:C0154857 | senile reticular retinal degeneration | DOID:12163 | Senile reticular retinal degeneration | Senile reticular retinal degeneration (disorder) | MONDO:0001453 | Senile reticular degeneration | SNOMEDCT ID:54184008 +BMGC_DS03428,BMG_DS004773,Secondary pigmentary retinal degeneration (disorder) | UMLS ID:C0154858 | SNOMEDCT ID:35545005 | DOID:12162 | Pseudoretinitis pigmentosa | Secondary pigmentary retinal degeneration | pseudoretinitis pigmentosa +BMGC_DS03429,BMG_DS004774,secondary vitreoretinal degeneration | Secondary vitreoretinal degeneration (disorder) | UMLS ID:C0154859 | MONDO:0001457 | DOID:12167 | SNOMEDCT ID:60676002 | Secondary vitreoretinal degeneration | ICD10 ID:H35.46 | SNOMEDCT ID:193397003 +BMGC_DS03430,BMG_DS004775,retinitis pigmentosa 47 | retinitis pigmentosa 22 | SNOMEDCT ID:41799005 | 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 | ICD10 ID:H35.5 | 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 | 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 | retinitis pigmentosa 45 | Usher syndrome type 2D | retinitis pigmentosa 23 | Inherited retinal dystrophies | Usher syndrome type 1D | Hereditary retinal dystrophy (disorder) | retinitis pigmentosa 61 | retinitis pigmentosa 40 | patterned macular dystrophy | Leber congenital amaurosis 2 | retinitis pigmentosa 63 | retinitis pigmentosa 70 | Leber congenital amaurosis 5 | UMLS ID:C0154860 | 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 | ICD11 ID:9B70 | 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 | Hereditary retinal dystrophy +BMGC_DS03431,BMG_DS004776,DOID:14253 | MONDO:0001925 | retinal dystrophy in systemic or cerebroretinal lipidoses | UMLS ID:C0154861 +BMGC_DS03432,BMG_DS004777,vitreoretinal dystrophy | SNOMEDCT ID:79556007 | ICD10 ID:H35.51 | MONDO:0001923 | Vitreoretinal dystrophy (disorder) | UMLS ID:C0154863 | Vitreoretinal dystrophy | DOID:14251 +BMGC_DS03433,BMG_DS004779,UMLS ID:C0154865 | dystrophies primarily involving the retinal pigment epithelium | Dystrophies primarily involving the retinal pigment epithelium | ICD10 ID:H35.54 | DOID:14252 | MONDO:0001924 +BMGC_DS03434,BMG_DS004780,MONDO:0001666 | UMLS ID:C0154866 | DOID:13227 | retinal dystrophies primarily involving Bruch's membrane +BMGC_DS03435,BMG_DS004781,ICD11 ID:9B65.2 | Focal chorioretinitis | Focal retinochoroiditis | Focal chorioretinitis (disorder) | DOID:1979 | Chorioretinal inflammation | focal chorioretinitis | ICD10 ID:H30.0 | UMLS ID:C0154870 | SNOMEDCT ID:15847003 | MONDO:0002164 +BMGC_DS03436,BMG_DS004784,SNOMEDCT ID:410471004 | Papilloretinitis | DOID:10176 | Neuroretinitis | neuroretinitis | Retinitis | MeSH ID:D012173 | MONDO:0000958 | UMLS ID:C0154874 | Neuroretinitis (disorder) +BMGC_DS03437,BMG_DS004787,disseminated chorioretinitis | MONDO:0004657 | Disseminated chorioretinitis (disorder) | ICD11 ID:9B65.2 | DOID:8787 | Chorioretinal inflammation | Disseminated retinochoroiditis | ICD10 ID:H30.1 | UMLS ID:C0154879 | SNOMEDCT ID:78769001 | Disseminated chorioretinitis +BMGC_DS03438,BMG_DS004793,DOID:11283 | peripheral scars of retina | UMLS ID:C0154888 +BMGC_DS03439,BMG_DS004794,MONDO:0004879 | Senile atrophy of choroid (disorder) | senile atrophy of choroid | SNOMEDCT ID:38513001 | Senile atrophy of choroid | DOID:9776 | UMLS ID:C0154891 +BMGC_DS03440,BMG_DS004795,UMLS ID:C0154892 | MONDO:0004886 | DOID:981 | diffuse secondary choroid atrophy | Diffuse secondary choroid atrophy | SNOMEDCT ID:193463006 | Diffuse secondary choroid atrophy (disorder) +BMGC_DS03441,BMG_DS004796,Choroidal dystrophy | Hereditary choroidal dystrophy | SNOMEDCT ID:74469006 | ICD11 ID:9B61 | Hereditary choroidal atrophy | UMLS ID:C0154893 | DOID:9794 | ICD10 ID:H31.2 | MONDO:0004883 | hereditary choroidal atrophy | Hereditary choroidal dystrophy (disorder) +BMGC_DS03442,BMG_DS004797,Partial peripapillary choroidal dystrophy | Partial circumpapillary choroid dystrophy | UMLS ID:C0154895 | SNOMEDCT ID:193466003 | MONDO:0004888 | Partial circumpapillary dystrophy of choroid | Partial peripapillary dystrophy of choroid (disorder) | DOID:9811 | Partial peripapillary dystrophy of choroid | partial circumpapillary choroid dystrophy +BMGC_DS03443,BMG_DS004798,Total peripapillary choroidal dystrophy | MONDO:0004898 | DOID:9842 | Total peripapillary dystrophy of choroid (disorder) | Total circumpapillary dystrophy of choroid | UMLS ID:C0154896 | total circumpapillary dystrophy of choroid | SNOMEDCT ID:59753003 | Total peripapillary dystrophy of choroid +BMGC_DS03444,BMG_DS004799,UMLS ID:C0154898 | MONDO:0004889 | DOID:9820 | central gyrate choroidal dystrophy | total central choroidal atrophy +BMGC_DS03445,BMG_DS004805,UMLS ID:C0154907 | Cyclitis | SNOMEDCT ID:17657000 | Cyclitis (disorder) | Disorder of iris and ciliary body +BMGC_DS03446,BMG_DS004807,SNOMEDCT ID:193485000 | Primary iridocyclitis | ICD10 ID:H20.01 | UMLS ID:C0154909 | Primary iridocyclitis (disorder) | DOID:9383 | SNOMEDCT ID:12630008 | iridocyclitis +BMGC_DS03447,BMG_DS004809,MONDO:0017210 | UMLS ID:C0154911 | infectious anterior uveitis | SNOMEDCT ID:193487008 | Secondary infected iridocyclitis (disorder) | DOID:9389 | Secondary infected iridocyclitis +BMGC_DS03448,BMG_DS004812,"rubeosis iridis | MONDO:0001855 | Iris neovascularisation | Rubeosis iridis (disorder) | Iris neovascularization | Rubeosis iridis | Disorders of the anterior chamber, unspecified | SNOMEDCT ID:51995000 | DOID:14000 | UMLS ID:C0154916 | ICD11 ID:9A8Z | New vessels in iris | Rubeotic iris | NVI - New vessels iris | ICD10 ID:H21.1" +BMGC_DS03449,BMG_DS004824,anatomical narrow angle borderline glaucoma | MONDO:0001686 | UMLS ID:C0154941 | DOID:13327 +BMGC_DS03450,BMG_DS004825,MONDO:0001094 | Residual stage of open angle glaucoma (disorder) | Residual stage of open angle glaucoma | SNOMEDCT ID:66990007 | residual stage of open angle glaucoma | DOID:1066 | UMLS ID:C0154944 +BMGC_DS03451,BMG_DS004826,Intermittent closed-angle glaucoma | Interval angle-closure glaucoma | ICD10 ID:H40.23 | Intermittent angle-closure glaucoma | Subacute angle-closure glaucoma | Subacute closed-angle glaucoma | Prodromal angle closure glaucoma | Intermittent angle-closure glaucoma (disorder) | SNOMEDCT ID:65460003 | DOID:13549 | interval angle-closure glaucoma | UMLS ID:C0154945 | MONDO:0001742 +BMGC_DS03452,BMG_DS004827,ICD10 ID:H40.21 | Acute angle-closure glaucoma (disorder) | DOID:13862 | SNOMEDCT ID:30041005 | UMLS ID:C0154946 | AACG - Acute angle closure glaucoma | MONDO:0001817 | Acute angle-closure glaucoma | acute closed-angle glaucoma +BMGC_DS03453,BMG_DS004828,Anatomical narrow angle glaucoma | Chronic narrow angle glaucoma | DOID:14445 | Chronic angle-closure glaucoma | Chronic closed-angle glaucoma | MONDO:0001966 | UMLS ID:C0154947 | CNAG - Chronic narrow angle glaucoma | Anatomical narrow angle glaucoma (disorder) | chronic closed-angle glaucoma | Narrow cleft glaucoma | SNOMEDCT ID:33647009 +BMGC_DS03454,BMG_DS004829,DOID:1404 | residual stage angle-closure glaucoma | MONDO:0001864 | Residual stage of angle-closure glaucoma | ICD10 ID:H40.24 | UMLS ID:C0154948 +BMGC_DS03455,BMG_DS004834,UMLS ID:C0154959 | DOID:12571 | phacogenic glaucoma +BMGC_DS03456,BMG_DS004839,Hypersecretion glaucoma (disorder) | SNOMEDCT ID:29369005 | Hypersecretion glaucoma | hypersecretion glaucoma | MONDO:0001205 | UMLS ID:C0154968 | DOID:11148 | ICD10 ID:H40.82 +BMGC_DS03457,BMG_DS004843,Cortical senile cataract (disorder) | UMLS ID:C0154980 | MONDO:0001749 | cortical senile cataract | DOID:13574 | Cortical senile cataract | SNOMEDCT ID:78875003 | SNOMEDCT ID:193588001 +BMGC_DS03458,BMG_DS004847,MONDO:0001390 | DOID:11850 | Transient refractive change (disorder) | UMLS ID:C0155000 | SNOMEDCT ID:81519008 | Transient refractive change | transient refractive change +BMGC_DS03459,BMG_DS004851,MONDO:0001565 | SNOMEDCT ID:79195003 | DOID:12668 | Abnormal retinal correspondence (disorder) | abnormal retinal correspondence | ICD10 ID:H53.31 | Abnormal retinal correspondence | ARC - Abnormal retinal correspondence | UMLS ID:C0155010 | Anomalous retinal correspondence +BMGC_DS03460,BMG_DS004852,"MONDO:0010565 | Color Vision Defects | red color blindness | OMIM ID:303900 | DOID:13910 | UMLS ID:C0155015 | Color Blindness, Red | MeSH ID:D003117" +BMGC_DS03461,BMG_DS004853,"Color Vision Defects | UMLS ID:C0155016 | OMIM ID:303800 | MONDO:0010564 | red-green color blindness | DOID:13909 | Color Blindness, Red-Green | MeSH ID:D003117" +BMGC_DS03462,BMG_DS004854,"Color Vision Defects | UMLS ID:C0155017 | DOID:11661 | Color Blindness, Blue | MONDO:0008610 | OMIM ID:190900 | blue color blindness | MeSH ID:D003117" +BMGC_DS03463,BMG_DS004855,"UMLS ID:C0155018 | Color Vision Defects | Color Blindness, Acquired | MONDO:0001828 | DOID:13912 | MeSH ID:D003117 | acquired color blindness" +BMGC_DS03464,BMG_DS004856,Abnormal dark adaptation curve | SNOMEDCT ID:50455002 | Delayed adaptation of rods | DOID:11874 | Delayed adaptation of cones | MONDO:0001396 | Abnormal dark adaptation curve (disorder) | Abnormal threshold of cones | Dark adaptation abnormality | UMLS ID:C0155019 | abnormal threshold of rods | ICD10 ID:H53.61 | Abnormal threshold of rods +BMGC_DS03465,BMG_DS004857,UMLS ID:C0155020 | blindness | DOID:1432 +BMGC_DS03466,BMG_DS004858,marginal corneal ulcer | UMLS ID:C0155067 | ICD10 ID:H16.04 | Marginal corneal ulcer | SNOMEDCT ID:47398006 | MONDO:0001034 | Marginal corneal ulcer (disorder) | DOID:10441 +BMGC_DS03467,BMG_DS004859,SNOMEDCT ID:193760005 | ring corneal ulcer | DOID:10444 | Ring corneal ulcer (disorder) | SNOMEDCT ID:111520007 | ICD10 ID:H16.02 | Ring corneal ulcer | UMLS ID:C0155068 | MONDO:0001037 +BMGC_DS03468,BMG_DS004860,Central corneal ulcer | SNOMEDCT ID:193761009 | ICD10 ID:H16.01 | UMLS ID:C0155069 | central corneal ulcer | MONDO:0004918 | DOID:9910 | SNOMEDCT ID:7426009 | Central corneal ulcer (disorder) +BMGC_DS03469,BMG_DS004861,SNOMEDCT ID:6395007 | Ulcer: [hypopyon] or [serpiginous] (disorder) | Serpiginous ulcer | MONDO:0001035 | SNOMEDCT ID:193762002 | SNOMEDCT ID:267633000 | UMLS ID:C0155070 | Hypopyon ulcer | Corneal ulcer with hypopyon | Hypopyon ulcer (disorder) | hypopyon ulcer | Ulcer: [hypopyon] or [serpiginous] | DOID:10442 +BMGC_DS03470,BMG_DS004862,Fungal infection of cornea | Keratomycosis | ICD10 ID:H16.06 | Mycotic corneal ulcer (disorder) | SNOMEDCT ID:397977001 | SNOMEDCT ID:59939007 | Fungal corneal ulcer | DOID:10440 | Mycotic corneal ulcer | UMLS ID:C0155071 | Mycotic keratitis | mycotic corneal ulcer | MONDO:0001033 +BMGC_DS03471,BMG_DS004863,Mooren ulcer | DOID:10439 | MONDO:0001032 | SNOMEDCT ID:22440001 | Mooren's ulcer | Mooren's corneal ulcer | UMLS ID:C0155072 | Mooren's ulcer (disorder) +BMGC_DS03472,BMG_DS004864,UMLS ID:C0155074 | superficial keratitis | Superficial keratitis (disorder) | MONDO:0001465 | Superficial keratitis | SNOMEDCT ID:27019000 | DOID:12196 +BMGC_DS03473,BMG_DS004865,SNOMEDCT ID:2853006 | Macular keratitis (disorder) | macular keratitis | MONDO:0001395 | Macular keratitis | ICD10 ID:H16.11 | UMLS ID:C0155076 | DOID:11871 +BMGC_DS03474,BMG_DS004866,Filamentary keratopathy | DOID:4664 | SNOMEDCT ID:51286002 | Filamentary keratitis | MONDO:0003082 | UMLS ID:C0155077 | ICD10 ID:H16.12 | OMIM ID:MTHU053349 | Filamentary keratitis (disorder) | filamentary keratitis +BMGC_DS03475,BMG_DS004867,Photokeratitis | UMLS ID:C0155078 | Photokeratitis (disorder) | MONDO:0001760 | DOID:13626 | ICD10 ID:H16.13 | SNOMEDCT ID:1714005 | photokeratitis +BMGC_DS03476,BMG_DS004868,DOID:11581 | Strumous ophthalmia | phlyctenulosis | Phlyctenular keratoconjunctivitis | UMLS ID:C0155080 | MONDO:0001317 | Phlyctenulosis | SNOMEDCT ID:193773009 | Phlyctenular keratitis | ICD10 ID:H16.25 | SNOMEDCT ID:67895005 | Phlyctenular ophthalmia | Phlyctenular keratoconjunctivitis (disorder) +BMGC_DS03477,BMG_DS004870,Neurotrophic keratoconjunctivitis (disorder) | ICD10 ID:H16.23 | SNOMEDCT ID:77080005 | MONDO:0001440 | UMLS ID:C0155084 | Neurotrophic keratoconjunctivitis | neurotrophic keratoconjunctivitis | SNOMEDCT ID:193777005 | DOID:12125 +BMGC_DS03478,BMG_DS004871,"deep keratitis | ICD10 ID:H16.3 | Certain specified disorders of cornea, unspecified | ICD11 ID:9A78.Z | DOID:9858 | SNOMEDCT ID:193783008 | UMLS ID:C0155087 | Interstitial and deep keratitis (disorder) | Interstitial and deep keratitis" +BMGC_DS03479,BMG_DS004872,MONDO:0004902 | IK - Interstitial keratitis | Interstitial keratitis (disorder) | DOID:9857 | Stromal keratitis | UMLS ID:C0155088 | interstitial keratitis | Interstitial keratitis | SNOMEDCT ID:1763009 +BMGC_DS03480,BMG_DS004873,MONDO:0001694 | DOID:13353 | Cogan's syndrome | Diffuse interstitial keratitis (& [Cogan's syndrome]) | SNOMEDCT ID:193785001 | SNOMEDCT ID:17157001 | Diffuse interstitial keratitis (& [Cogan's syndrome]) (disorder) | SNOMEDCT ID:267635007 | Diffuse interstitial keratitis | diffuse interstitial keratitis | UMLS ID:C0155089 | Diffuse interstitial keratitis (disorder) | ICD10 ID:H16.32 +BMGC_DS03481,BMG_DS004874,Sclerosing keratitis | ICD10 ID:H16.33 | sclerosing keratitis | UMLS ID:C0155090 | SNOMEDCT ID:27886001 | DOID:14444 | Sclerosing keratitis (disorder) | MONDO:0001965 +BMGC_DS03482,BMG_DS004875,ICD10 ID:H16.31 | Corneal abscess | Corneal abscess (disorder) | DOID:11543 | MONDO:0001307 | UMLS ID:C0155091 | SNOMEDCT ID:64366002 | corneal abscess +BMGC_DS03483,BMG_DS004879,Deep vascularisation of cornea | ICD10 ID:H16.44 | Deep vascularization of cornea (disorder) | deep corneal vascularisation | Deep vascularization of cornea | MONDO:0001430 | SNOMEDCT ID:2102007 | UMLS ID:C0155095 | DOID:12087 | Deep corneal vascularisation | Deep corneal vascularization +BMGC_DS03484,BMG_DS004881,Phthisical cornea | MONDO:0001368 | SNOMEDCT ID:28143002 | SNOMEDCT ID:193801004 | phthisical cornea | DOID:11793 | UMLS ID:C0155102 | Phthisical cornea (finding) | Phthisical cornea (disorder) +BMGC_DS03485,BMG_DS004882,DOID:12307 | UMLS ID:C0155104 | SNOMEDCT ID:18377001 | Anterior corneal pigmentation (disorder) | MONDO:0001488 | anterior corneal pigmentation | Anterior corneal pigmentation +BMGC_DS03486,BMG_DS004883,DOID:12311 | MONDO:0006613 | SNOMEDCT ID:55031000 | Stromal corneal pigmentation (disorder) | stromal corneal pigmentation | Stromal corneal pigmentation | UMLS ID:C0155105 +BMGC_DS03487,BMG_DS004884,MONDO:0001717 | Posterior corneal pigmentation (& [Krukenberg spindle]) (disorder) | Posterior corneal pigmentation | SNOMEDCT ID:267639001 | Krukenberg spindle | Posterior corneal pigmentation (disorder) | DOID:13448 | UMLS ID:C0155106 | SNOMEDCT ID:193807000 | SNOMEDCT ID:11293004 | posterior corneal pigmentation | Posterior corneal pigmentation (& [Krukenberg spindle]) +BMGC_DS03488,BMG_DS004885,corneal argyrosis | Argentous corneal deposit | DOID:13447 | Argentous corneal deposit (disorder) | Argyrosis of cornea | SNOMEDCT ID:21328003 | MONDO:0001716 | UMLS ID:C0155108 +BMGC_DS03489,BMG_DS004886,ICD10 ID:H18.22 | SNOMEDCT ID:1794009 | idiopathic corneal edema | Idiopathic corneal edema (disorder) | DOID:11033 | Idiopathic corneal edema | SNOMEDCT ID:193813009 | UMLS ID:C0155109 | MONDO:0001182 | Idiopathic corneal oedema +BMGC_DS03490,BMG_DS004887,secondary corneal edema | MONDO:0001181 | Secondary corneal edema (disorder) | UMLS ID:C0155110 | Secondary corneal edema | SNOMEDCT ID:193814003 | ICD10 ID:H18.23 | Secondary corneal oedema | DOID:11032 | SNOMEDCT ID:27536004 +BMGC_DS03491,BMG_DS004888,SNOMEDCT ID:193815002 | BK - Bullous keratopathy | UMLS ID:C0155111 | MONDO:0001180 | ICD11 ID:9A78.20 | bullous keratopathy | Bullous keratopathy (disorder) | ICD10 ID:H18.1 | SNOMEDCT ID:57207003 | DOID:11031 | Bullous keratopathy +BMGC_DS03492,BMG_DS004889,SNOMEDCT ID:45382000 | Folds AND/OR rupture of Bowman's membrane (disorder) | Folds AND/OR rupture of Bowman membrane | MONDO:0001310 | DOID:11552 | Folds AND/OR rupture of Bowman's membrane | UMLS ID:C0155115 | Bowman's membrane folds or rupture +BMGC_DS03493,BMG_DS004890,DOID:1237 | ICD11 ID:9A78.4 | ICD10 ID:H18.4 | Corneal degeneration | MONDO:0001515 | Corneal degeneration (disorder) | corneal degeneration | SNOMEDCT ID:111521006 | UMLS ID:C0155118 +BMGC_DS03494,BMG_DS004891,UMLS ID:C0155119 | Recurrent corneal erosion | Recurrent erosion syndrome | recurrent corneal erosion | SNOMEDCT ID:2055003 | ICD10 ID:H18.83 | DOID:11541 | Recurrent erosion of cornea | Recurrent erosion of cornea (disorder) +BMGC_DS03495,BMG_DS004892,"UMLS ID:C0155120 | OMIM ID:217500 | MeSH ID:C562399 | Corneal Dystrophy, Band-Shaped | DOID:11164 | band keratopathy | MONDO:0009016" +BMGC_DS03496,BMG_DS004894,SNOMEDCT ID:72620002 | DOID:2879 | Nodular degeneration of cornea (disorder) | Nodular degeneration of cornea | MONDO:0002449 | UMLS ID:C0155122 | nodular degeneration of cornea +BMGC_DS03497,BMG_DS004895,SNOMEDCT ID:89182000 | Peripheral degeneration of cornea | UMLS ID:C0155123 | MONDO:0001983 | DOID:14507 | Peripheral degeneration of cornea (disorder) | peripheral degeneration of cornea +BMGC_DS03498,BMG_DS004897,"Familial Amyloid Polyneuropathy, Type V | Amyloid Neuropathies, Familial | MONDO:0004686 | MeSH ID:D028227 | UMLS ID:C0155127 | lattice corneal dystrophy" +BMGC_DS03499,BMG_DS004898,"stable condition keratoconus | SNOMEDCT ID:193844000 | DOID:10428 | Keratoconus, stable condition (disorder) | keratoconus, stable condition | UMLS ID:C0155131 | Keratoconus, stable condition | MONDO:0001030" +BMGC_DS03500,BMG_DS004899,Corneal ectasia | Ectasia of cornea | SNOMEDCT ID:14748007 | ICD10 ID:H18.71 | DOID:1436 | corneal ectasia | Corneal ectasia (disorder) | UMLS ID:C0155135 | OMIM ID:MTHU061000 | MONDO:0001950 +BMGC_DS03501,BMG_DS004901,"Serous conjunctivitis, except viral | SNOMEDCT ID:9824006 | UMLS ID:C0155142 | DOID:11197 | MONDO:0001219 | ICD10 ID:H10.23 | serous conjunctivitis except viral | Serous conjunctivitis, except viral (disorder)" +BMGC_DS03502,BMG_DS004902,ICD10 ID:H10.01 | MONDO:0001228 | Acute follicular conjunctivitis (disorder) | SNOMEDCT ID:41308008 | Acute follicular conjunctivitis | DOID:11219 | conjunctival folliculosis | Conjunctival folliculosis | UMLS ID:C0155143 +BMGC_DS03503,BMG_DS004903,SNOMEDCT ID:72115001 | Membranous conjunctivitis | SNOMEDCT ID:193862009 | Pseudomembranous conjunctivitis (disorder) | Conjunctivitis: [pseudomembranous] or [membranous] | UMLS ID:C0155144 | MONDO:0001217 | pseudomembranous conjunctivitis | DOID:11190 | ICD10 ID:H10.22 | Pseudomembranous conjunctivitis | Conjunctivitis: [pseudomembranous] or [membranous] (disorder) | SNOMEDCT ID:267643002 +BMGC_DS03504,BMG_DS004904,"Chronic conjunctivitis (disorder) | Conjunctivitis, unspecified | SNOMEDCT ID:73762008 | ICD10 ID:H10.4 | Chronic conjunctivitis | ICD11 ID:9A60.Z | chronic conjunctivitis | MONDO:0002314 | SNOMEDCT ID:155163007 | UMLS ID:C0155145 | DOID:2475" +BMGC_DS03505,BMG_DS004905,SNOMEDCT ID:8211008 | simple chronic conjunctivitis | ICD10 ID:H10.42 | DOID:9512 | SNOMEDCT ID:193866007 | MONDO:0004811 | Simple chronic conjunctivitis (disorder) | UMLS ID:C0155146 | Simple chronic conjunctivitis +BMGC_DS03506,BMG_DS004906,Chronic follicular conjunctivitis | Chronic follicular conjunctivitis (disorder) | MONDO:0001685 | ICD10 ID:H10.43 | SNOMEDCT ID:39429002 | UMLS ID:C0155147 | DOID:13326 | chronic follicular conjunctivitis +BMGC_DS03507,BMG_DS004907,Parasitic conjunctivitis | UMLS ID:C0155148 | Parasitic conjunctivitis (disorder) | DOID:13341 | parasitic conjunctivitis | SNOMEDCT ID:13816006 | MONDO:0001690 +BMGC_DS03508,BMG_DS004908,SNOMEDCT ID:69397000 | MONDO:0002306 | Angular blepharoconjunctivitis | ICD10 ID:H10.52 | DOID:2455 | SNOMEDCT ID:193871000 | angular blepharoconjunctivitis | Angular blepharoconjunctivitis (disorder) | UMLS ID:C0155149 +BMGC_DS03509,BMG_DS004909,ICD10 ID:H10.53 | contact blepharoconjunctivitis | UMLS ID:C0155150 | Contact blepharoconjunctivitis (disorder) | MONDO:0001853 | Contact blepharoconjunctivitis | SNOMEDCT ID:193872007 | DOID:13999 | SNOMEDCT ID:10813004 +BMGC_DS03510,BMG_DS004910,Rosacea conjunctivitis (disorder) | DOID:9709 | ICD10 ID:H10.82 | Rosacea conjunctivitis | rosacea conjunctivitis | SNOMEDCT ID:10128002 | MONDO:0004856 | UMLS ID:C0155152 +BMGC_DS03511,BMG_DS004913,"Peripheral pterygium, progressive | MONDO:0001723 | progressive peripheral pterygium | UMLS ID:C0155155 | SNOMEDCT ID:193881001 | Peripheral pterygium, progressive (disorder) | DOID:13474" +BMGC_DS03512,BMG_DS004914,central pterygium | DOID:13473 | MONDO:0001722 | UMLS ID:C0155156 +BMGC_DS03513,BMG_DS004915,DOID:10525 | Double pterygium (disorder) | SNOMEDCT ID:41564009 | double pterygium | SNOMEDCT ID:193883003 | UMLS ID:C0155157 | MONDO:0001054 | Double pterygium +BMGC_DS03514,BMG_DS004917,UMLS ID:C0155160 | SNOMEDCT ID:40787005 | DOID:10139 | Conjunctival degeneration | Conjunctival degeneration (disorder) | MONDO:0000949 | conjunctival degeneration +BMGC_DS03515,BMG_DS004918,MONDO:0001178 | Pseudopterygium (disorder) | Pseudopterygium | UMLS ID:C0155161 | DOID:11028 | SNOMEDCT ID:66139007 | pseudopterygium +BMGC_DS03516,BMG_DS004919,conjunctival concretion | UMLS ID:C0155162 | MONDO:0001412 | DOID:11988 +BMGC_DS03517,BMG_DS004920,UMLS ID:C0155163 | Conjunctival pigmentation | MONDO:0006537 | DOID:12304 | Conjunctival pigmentation (disorder) | SNOMEDCT ID:66081003 | SNOMEDCT ID:267645009 | Conjunctival pigmentation (finding) | conjunctival pigmentation +BMGC_DS03518,BMG_DS004924,Hyperaemia of conjunctiva | SNOMEDCT ID:359610006 | Ocular hyperemia | Hyperemia of conjunctiva | SNOMEDCT ID:781682005 | Ocular hyperaemia | UMLS ID:C0155169 | DOID:1248 | Ocular hyperemia (disorder) | Hyperaemia of eye | ocular hyperemia | Hyperemia of eyes | MONDO:0001534 | Hyperemia of conjunctiva (disorder) | Hyperaemia of eyes | Bloodshot eye | SNOMEDCT ID:76849009 | Hyperemia of eye (finding) | Hyperemia of eye +BMGC_DS03519,BMG_DS004927,MONDO:0004799 | Ulcerative blepharitis | SNOMEDCT ID:91662004 | ICD10 ID:H01.01 | DOID:9483 | Ulcerative blepharitis (disorder) | ulcerative blepharitis | UMLS ID:C0155173 +BMGC_DS03520,BMG_DS004928,Anterior squamous lid disease | squamous blepharitis | Squamous blepharitis | Anterior lid margin disease | SNOMEDCT ID:58912008 | UMLS ID:C0155174 | DOID:13825 | ICD10 ID:H01.02 | Squamous blepharitis (disorder) | MONDO:0001813 +BMGC_DS03521,BMG_DS004930,MONDO:0002137 | Noninfectious dermatosis of eyelid | Non-infectious dermatosis of eyelid | noninfectious dermatoses of eyelid | SNOMEDCT ID:111524003 | DOID:1894 | Noninfectious dermatosis of eyelid (disorder) | UMLS ID:C0155176 +BMGC_DS03522,BMG_DS004931,UMLS ID:C0155177 | Eyelid eczema | ICD10 ID:H01.13 | MONDO:0002136 | Eczematous dermatitis of eyelid (disorder) | SNOMEDCT ID:36259009 | Eczematous dermatitis of eyelid | DOID:1893 | eczematous dermatitis of eyelid | Eczema of eyelid +BMGC_DS03523,BMG_DS004932,SNOMEDCT ID:402249007 | MONDO:0002138 | Allergic contact dermatitis of eyelid (disorder) | DOID:1895 | allergic contact dermatitis of eyelid | Allergic contact dermatitis of eyelid | UMLS ID:C0155178 +BMGC_DS03524,BMG_DS004933,DOID:9140 | Xeroderma of eyelid (disorder) | Xeroderma of eyelid | UMLS ID:C0155179 | SNOMEDCT ID:55846006 | MONDO:0004718 | xeroderma of eyelid | ICD10 ID:H01.14 +BMGC_DS03525,BMG_DS004934,DOID:9076 | Discoid lupus erythematosus of eyelid | MONDO:0004706 | SNOMEDCT ID:79291003 | UMLS ID:C0155180 | discoid lupus erythematosus of eyelid | Discoid lupus erythematosus of eyelid (disorder) | Discoid lupus erythematosus eyelid | ICD10 ID:H01.12 | Discoid lupus eyelid +BMGC_DS03526,BMG_DS004935,UMLS ID:C0155181 | DOID:9423 | blepharitis +BMGC_DS03527,BMG_DS004936,Parasitic eyelid infestation (disorder) | UMLS ID:C0155183 | Parasitic eyelid infestation | parasitic eyelid infestation | DOID:13823 | MONDO:0001812 | SNOMEDCT ID:193922006 +BMGC_DS03528,BMG_DS004938,UMLS ID:C0155188 | Involutional entropion | MONDO:0001591 | Senile entropion (disorder) | SNOMEDCT ID:55408009 | Senile entropion | Age-related entropion | senile entropion | DOID:12836 +BMGC_DS03529,BMG_DS004939,Mechanical entropion | Mechanical entropion (disorder) | UMLS ID:C0155189 | SNOMEDCT ID:38683003 | DOID:13112 | mechanical entropion | MONDO:0001636 +BMGC_DS03530,BMG_DS004940,Spastic entropion (disorder) | DOID:12395 | SNOMEDCT ID:20828000 | UMLS ID:C0155190 | MONDO:0001518 | Spastic entropion | spastic entropion +BMGC_DS03531,BMG_DS004941,cicatricial entropion | Cicatricial entropion | SNOMEDCT ID:67383002 | Cicatricial entropion (disorder) | DOID:13113 | UMLS ID:C0155191 | MONDO:0001637 +BMGC_DS03532,BMG_DS004942,Involutional ectropion | DOID:13356 | UMLS ID:C0155193 | Senile ectropion (disorder) | MONDO:0001695 | SNOMEDCT ID:71659009 | senile ectropion | Age-related ectropion | Senile ectropion +BMGC_DS03533,BMG_DS004943,SNOMEDCT ID:45020000 | UMLS ID:C0155194 | mechanical ectropion | DOID:1569 | Mechanical ectropion (disorder) | MONDO:0002042 | Mechanical ectropion +BMGC_DS03534,BMG_DS004944,Spastic ectropion | spastic ectropion | DOID:1571 | Spastic ectropion (disorder) | MONDO:0002044 | SNOMEDCT ID:80846000 | UMLS ID:C0155195 +BMGC_DS03535,BMG_DS004945,MONDO:0001582 | Cicatricial ectropion (disorder) | cicatricial ectropion | DOID:12782 | OMIM ID:MTHU037244 | UMLS ID:C0155196 | Cicatricial ectropion | SNOMEDCT ID:28914006 +BMGC_DS03536,BMG_DS004946,MONDO:0001603 | Paralytic Lagophthalmos | DOID:12958 | Lagophthalmos | UMLS ID:C0155197 | paralytic lagophthalmos | MeSH ID:D000092164 +BMGC_DS03537,BMG_DS004947,UMLS ID:C0155198 | Mechanical lagophthalmos (disorder) | SNOMEDCT ID:21783006 | MONDO:0001622 | SNOMEDCT ID:193939008 | Mechanical lagophthalmos | ICD10 ID:H02.22 | DOID:13037 | mechanical lagophthalmos +BMGC_DS03538,BMG_DS004948,Lagophthalmos | cicatricial lagophthalmos | MONDO:0001623 | UMLS ID:C0155199 | DOID:13038 | MeSH ID:D000092164 | Cicatricial Lagophthalmos +BMGC_DS03539,BMG_DS004952,DOID:10122 | Hyperpigmentation of Eyelids | hyperpigmentation of eyelid | MeSH ID:C562400 | MONDO:0007769 | OMIM ID:145100 | UMLS ID:C0155211 +BMGC_DS03540,BMG_DS004953,ICD10 ID:H02.73 | SNOMEDCT ID:68210006 | UMLS ID:C0155212 | hypopigmentation of eyelid | MONDO:0006561 | DOID:11668 | Hypopigmentation of eyelid (disorder) | Hypopigmentation of eyelid | eyelid hypopigmentation | SNOMEDCT ID:193958004 +BMGC_DS03541,BMG_DS004954,UMLS ID:C0155213 | Hypertrichosis of eyelid | ICD10 ID:H02.86 | Hypertrichosis of eyelid (disorder) | DOID:11669 | hypertrichosis of eyelid | SNOMEDCT ID:79830009 | MONDO:0001334 +BMGC_DS03542,BMG_DS004955,ICD10 ID:H02.72 | DOID:11671 | MONDO:0001335 | SNOMEDCT ID:70738004 | Hypotrichosis of eyelid (disorder) | Hypotrichosis of eyelid | UMLS ID:C0155214 | SNOMEDCT ID:193959007 | hypotrichosis of eyelid +BMGC_DS03543,BMG_DS004958,"MONDO:0004804 | MeSH ID:D003607 | Dacryadenitis | ICD11 ID:9A1Z | Dacryoadenitis | SNOMEDCT ID:86927009 | Dacryoadenitis (disorder) | dacryoadenitis | Dacryocystitis | DOID:950 | UMLS ID:C0155223 | Disorders of lacrimal apparatus, unspecified | ICD10 ID:H04.0" +BMGC_DS03544,BMG_DS004959,ICD10 ID:H04.02 | Chronic dacryoadenitis | MONDO:0004800 | UMLS ID:C0155224 | Chronic dacryoadenitis (disorder) | chronic dacryoadenitis | SNOMEDCT ID:4760008 | DOID:949 +BMGC_DS03545,BMG_DS004961,UMLS ID:C0155229 | Primary lacrimal atrophy (disorder) | SNOMEDCT ID:17093002 | SNOMEDCT ID:193978007 | Primary lacrimal atrophy | primary lacrimal atrophy | DOID:1399 | MONDO:0001851 +BMGC_DS03546,BMG_DS004962,Prolapse of lacrimal gland | DOID:11134 | Dislocation of lacrimal gland | prolapse of lacrimal gland | SNOMEDCT ID:84777002 | MONDO:0001203 | UMLS ID:C0155231 | Dislocation of lacrimal gland (disorder) +BMGC_DS03547,BMG_DS004963,UMLS ID:C0155233 | Epiphora due to excess lacrimation (disorder) | epiphora due to excess lacrimation | ICD10 ID:H04.21 | SNOMEDCT ID:31788005 | Epiphora due to excess lacrimation | MONDO:0001918 | SNOMEDCT ID:193984005 | DOID:14244 +BMGC_DS03548,BMG_DS004964,UMLS ID:C0155234 | DOID:13756 | epiphora due to insufficient drainage | SNOMEDCT ID:85042000 | Epiphora due to insufficient drainage (disorder) | Epiphora due to insufficient drainage | MONDO:0001792 | ICD10 ID:H04.22 +BMGC_DS03549,BMG_DS004965,UMLS ID:C0155237 | (Acute and unspecified inflammation of lacrimal passages) or (acute dacryocystitis) | ICD10 ID:H04.32 | SNOMEDCT ID:193986007 | acute dacryocystitis | Acute dacryocystitis | (Acute and unspecified inflammation of lacrimal passages) or (acute dacryocystitis) (disorder) | Dacryocystitis - acute | DOID:12996 | SNOMEDCT ID:25470000 | Acute and unspecified inflammation of lacrimal passages | Acute dacryocystitis (disorder) | MONDO:0001610 +BMGC_DS03550,BMG_DS004966,Phlegmonous dacryocystitis (disorder) | MONDO:0001611 | SNOMEDCT ID:64324003 | Cellulitis of lacrimal sac | phlegmonous dacryocystitis | DOID:12997 | SNOMEDCT ID:193988008 | Phlegmonous dacryocystitis | ICD10 ID:H04.31 | UMLS ID:C0155238 +BMGC_DS03551,BMG_DS004967,Chronic inflammation of lacrimal passage (& [dacryocystitis]) (disorder) | Chronic dacryocystitis | Chronic inflammation of lacrimal passage | Chronic inflammation of lacrimal passage (& [dacryocystitis]) | SNOMEDCT ID:787179008 | Chronic inflammation of lacrimal drainage structure | chronic inflammation of lacrimal passage | MONDO:0004923 | SNOMEDCT ID:193990009 | Dacryocystitis - chronic | Chronic inflammation of lacrimal drainage structure (disorder) | DOID:9935 | UMLS ID:C0155239 +BMGC_DS03552,BMG_DS004968,MONDO:0004924 | SNOMEDCT ID:26479009 | Chronic canaliculitis | chronic canaliculitis | Chronic lacrimal canaliculitis | UMLS ID:C0155240 | Chronic lacrimal canaliculitis (disorder) | DOID:9936 | ICD10 ID:H04.42 +BMGC_DS03553,BMG_DS004969,Lacrimal mucocoele | Lacrimal sac mucocele | Lacrimal mucocele | dacryocystocele | Dacryocystocele | DOID:9939 | MONDO:0004927 | Lacrimal mucocele (disorder) | Dacryocele | SNOMEDCT ID:42758002 | UMLS ID:C0155241 +BMGC_DS03554,BMG_DS004970,SNOMEDCT ID:28244003 | UMLS ID:C0155243 | Eversion of lacrimal punctum | MONDO:0001766 | ICD10 ID:H04.52 | DOID:13651 | eversion of lacrimal punctum | Eversion of lacrimal punctum (disorder) +BMGC_DS03555,BMG_DS004971,SNOMEDCT ID:74783009 | stenosis of lacrimal punctum | Stenosis of lacrimal punctum | ICD10 ID:H04.56 | Stenosis of lacrimal punctum (disorder) | UMLS ID:C0155244 | MONDO:0001767 | Punctal stenosis | DOID:13653 +BMGC_DS03556,BMG_DS004972,DOID:13654 | MONDO:0001768 | stenosis of lacrimal passage | UMLS ID:C0155245 +BMGC_DS03557,BMG_DS004973,DOID:3096 | MONDO:0002511 | stenosis of lacrimal sac | UMLS ID:C0155246 +BMGC_DS03558,BMG_DS004975,UMLS ID:C0155248 | MONDO:0001769 | acquired tear duct stenosis | DOID:13655 +BMGC_DS03559,BMG_DS004978,lacrimal passage granuloma | Lacrimal sac granuloma (disorder) | UMLS ID:C0155253 | Lacrimal passage granuloma | Lacrimal sac granuloma | Granuloma of lacrimal passage | SNOMEDCT ID:417563003 | DOID:10174 | SNOMEDCT ID:194001006 | MONDO:0000957 | Lacrimal passage granuloma (disorder) +BMGC_DS03560,BMG_DS004979,DOID:11230 | acute orbital inflammation | MONDO:0001230 | UMLS ID:C0155256 +BMGC_DS03561,BMG_DS004980,DOID:11231 | Orbital osteoperiostitis | orbital periostitis | Orbital periostitis (disorder) | UMLS ID:C0155257 | SNOMEDCT ID:65974003 | Orbital periostitis | MONDO:0001231 +BMGC_DS03562,BMG_DS004981,UMLS ID:C0155258 | MONDO:0001232 | DOID:11232 | Orbital osteomyelitis | orbital osteomyelitis | Orbital osteomyelitis (disorder) | SNOMEDCT ID:65875003 +BMGC_DS03563,BMG_DS004982,SNOMEDCT ID:8976003 | UMLS ID:C0155259 | Tenonitis (disorder) | Tenonitis | orbital tenonitis | MONDO:0001233 | Orbital tenonitis | DOID:11233 +BMGC_DS03564,BMG_DS004983,Chronic orbital inflammation | Chronic inflammation of orbit (disorder) | SNOMEDCT ID:44729001 | UMLS ID:C0155261 | MONDO:0001849 | chronic orbital inflammation | DOID:1397 | Chronic inflammation of orbit +BMGC_DS03565,BMG_DS004984,Orbital granuloma (disorder) | orbital granuloma | SNOMEDCT ID:72776003 | UMLS ID:C0155262 | Orbital granuloma | SNOMEDCT ID:194008000 | DOID:10499 | MONDO:0001048 +BMGC_DS03566,BMG_DS004986,Thyroid eye disease with exophthalmos | Ophthalmic Graves disease | SNOMEDCT ID:276177000 | Endocrine ophthalmopathy | Graves' eye disease | Endocrine orbitopathy | Thyroid eye disease | Thyroid ophthalmopathy | Endocrine exophthalmos (disorder) | Graves' ophthalmopathy | Thyroid orbitopathy | Graves eye disease | endocrine exophthalmos | Graves ophthalmopathy | Thyroid eye disease (disorder) | SNOMEDCT ID:53061005 | Dysthyroid orbitopathy | Endocrine exophthalmos | SNOMEDCT ID:415717005 | DOID:12359 | UMLS ID:C0155264 | Dysthyroid exophthalmos | Thyroid eye disease with exophthalmos (disorder) | MONDO:0001509 | Dysthyroid eye disease | Thyroid-associated ophthalmopathy +BMGC_DS03567,BMG_DS004987,Thyrotoxic exophthalmos (disorder) | UMLS ID:C0155265 | thyrotoxic exophthalmos | Thyrotoxic exophthalmos | MONDO:0001511 | SNOMEDCT ID:19885005 | DOID:12362 +BMGC_DS03568,BMG_DS004989,ICD10 ID:H05.24 | SNOMEDCT ID:194015008 | Constant exophthalmos (disorder) | DOID:9945 | UMLS ID:C0155267 | SNOMEDCT ID:89907009 | Constant exophthalmos | MONDO:0004929 | constant exophthalmos +BMGC_DS03569,BMG_DS004990,intermittent proptosis | Intermittent exophthalmos | MONDO:0001512 | Intermittent proptosis | SNOMEDCT ID:49774006 | Intermittent exophthalmos (disorder) | UMLS ID:C0155270 | DOID:12363 | ICD10 ID:H05.25 +BMGC_DS03570,BMG_DS004991,DOID:12364 | ICD10 ID:H05.26 | pulsating exophthalmos | Pulsating exophthalmos (disorder) | SNOMEDCT ID:2284002 | Pulsating exophthalmos | MONDO:0001513 | UMLS ID:C0155271 +BMGC_DS03571,BMG_DS004992,SNOMEDCT ID:48747004 | Lateral displacement of eye (disorder) | lateral displacement of eye | DOID:12360 | Lateral displacement of eye | Lateral displacement of globe | MONDO:0001510 | UMLS ID:C0155272 +BMGC_DS03572,BMG_DS004997,DOID:14233 | UMLS ID:C0155285 | orbital cyst | Orbital cyst | SNOMEDCT ID:31021007 | MONDO:0001915 | Cyst of orbit (disorder) | Cyst of orbit +BMGC_DS03573,BMG_DS004998,UMLS ID:C0155286 | SNOMEDCT ID:57130002 | DOID:929 | Myopathy of extraocular muscles (disorder) | Extraocular myopathy | myopathy of extraocular muscle | ICD10 ID:H05.82 | MONDO:0004746 | Myopathy of extraocular muscles +BMGC_DS03574,BMG_DS004999,Disorder of optic nerve and visual pathway | visual pathway disease | Disorder of visual pathways | visual pathway disorder | SNOMEDCT ID:54767005 | Disorder of visual pathways (disorder) | MONDO:0001834 | Disorder of afferent visual pathways | DOID:1393 | UMLS ID:C0155287 +BMGC_DS03575,BMG_DS005000,optic papillitis | UMLS ID:C0155288 | DOID:10175 | Papilledema Associated with Increased Intracranial Pressure | Papilledema | MeSH ID:D010211 +BMGC_DS03576,BMG_DS005002,DOID:10627 | MONDO:0001084 | Primary optic atrophy (disorder) | primary optic atrophy | Primary optic atrophy | SNOMEDCT ID:21098003 | UMLS ID:C0155291 | ICD10 ID:H47.21 +BMGC_DS03577,BMG_DS005005,Temporal pallor - optic disc | UMLS ID:C0155295 | Partial optic atrophy (disorder) | Partial optic atrophy | DOID:10631 | MONDO:0001086 | SNOMEDCT ID:194044005 | (Partial optic atrophy) or (temporal pallor - optic disc) | SNOMEDCT ID:111527005 | partial optic atrophy +BMGC_DS03578,BMG_DS005007,Crater-like holes of optic disc (disorder) | SNOMEDCT ID:19148004 | DOID:13295 | Crater-like holes of optic disc | crater-like holes of optic disc | UMLS ID:C0155298 +BMGC_DS03579,BMG_DS005008,MONDO:0007354 | UMLS ID:C0155299 | DOID:11975 | coloboma of optic nerve | OMIM ID:120430 +BMGC_DS03580,BMG_DS005009,pseudopapilledema | obsolete pseudopapilledema | Pseudopapilledema (disorder) | OMIM ID:MTHU006800 | MONDO:0008331 | Pseudopapilledema | OMIM ID:177800 | UMLS ID:C0155300 | MeSH ID:C562401 | SNOMEDCT ID:57138009 | Pseudopapilloedema | DOID:1392 | Crowded optic disc +BMGC_DS03581,BMG_DS005010,UMLS ID:C0155301 | Acute retrobulbar neuritis | Acute retrobulbar neuritis (disorder) | DOID:14155 | acute retrobulbar neuritis | MONDO:0001895 | Acute retrobulbar optic neuritis | SNOMEDCT ID:51604006 +BMGC_DS03582,BMG_DS005011,toxic or nutritional optic neuropathy | SNOMEDCT ID:82108004 | Disorder of optic nerve due to nutritional deficiency | MONDO:0001431 | DOID:1209 | nutritional optic neuropathy | ICD10 ID:H46.2 | Nutritional optic neuropathy | Disorder of optic nerve due to nutritional deficiency (disorder) | UMLS ID:C0155302 +BMGC_DS03583,BMG_DS005012,MeSH ID:D000081028 | DOID:13329 | toxic optic neuropathy | Toxic Optic Neuropathy | UMLS ID:C0155303 | MONDO:0001688 +BMGC_DS03584,BMG_DS005013,"anterior ischemic optic neuropathy | DOID:12010 | MeSH ID:D018917 | UMLS ID:C0155305 | Optic Neuropathy, Ischemic" +BMGC_DS03585,BMG_DS005014,UMLS ID:C0155307 | SNOMEDCT ID:70476006 | chiasmal syndrome | disorder of optic chiasm | Chiasma syndrome | MONDO:0003568 | Optic chiasm disorder (disorder) | Optic chiasm disorder | DOID:5655 +BMGC_DS03586,BMG_DS005021,"MONDO:0001385 | Blindness, Cortical | MeSH ID:D019575 | UMLS ID:C0155320 | DOID:11831 | cortical blindness" +BMGC_DS03587,BMG_DS005035,Esotropia with accommodative compensation | Esotropia with accommodative compensation (disorder) | DOID:9839 | MONDO:0004895 | SNOMEDCT ID:194112008 | accommodative esotropia | UMLS ID:C0155336 +BMGC_DS03588,BMG_DS005036,UMLS ID:C0155338 | SNOMEDCT ID:78097002 | Total ophthalmoplegia | Total ophthalmoplegia (disorder) | DOID:539 | ophthalmoplegia +BMGC_DS03589,BMG_DS005037,Brown Tendon Sheath Syndrome | Brown syndrome | Ocular Motility Disorders | UMLS ID:C0155339 | DOID:10235 | MeSH ID:D015835 | OMIM ID:616407 | MONDO:0014624 | Brown's tendon sheath syndrome +BMGC_DS03590,BMG_DS005039,episcleritis periodica fugax | SNOMEDCT ID:194141004 | DOID:12124 | Episcleritis (disorder) | Episcleritis periodica fugax (disorder) | SNOMEDCT ID:31166000 | Episcleritis | SNOMEDCT ID:815008 | UMLS ID:C0155351 | ICD10 ID:H15.11 | Episcleritis periodica fugax | MONDO:0001439 +BMGC_DS03591,BMG_DS005040,UMLS ID:C0155352 | SNOMEDCT ID:70558001 | MONDO:0004170 | Nodular episcleritis (disorder) | DOID:728 | ICD10 ID:H15.12 | nodular episcleritis | Nodular episcleritis +BMGC_DS03592,BMG_DS005041,SNOMEDCT ID:63454000 | OMIM ID:MTHU053348 | Anterior scleritis | Anterior scleritis (disorder) | ICD10 ID:H15.01 | UMLS ID:C0155353 | MONDO:0001804 | anterior scleritis | DOID:13794 +BMGC_DS03593,BMG_DS005042,Scleromalacia perforans (disorder) | Anterior necrotizing scleritis without inflammation | MONDO:0001914 | scleromalacia perforans | Anterior necrotising scleritis without inflammation | UMLS ID:C0155354 | ICD10 ID:H15.05 | DOID:14230 | SNOMEDCT ID:26664005 | Scleromalacia perforans +BMGC_DS03594,BMG_DS005043,ICD10 ID:H15.04 | MONDO:0001816 | Scleritis with corneal involvement | DOID:13861 | Scleroperikeratitis | UMLS ID:C0155355 | scleroperikeratitis | Scleritis with corneal involvement (disorder) | SNOMEDCT ID:42574005 +BMGC_DS03595,BMG_DS005044,DOID:14287 | SNOMEDCT ID:91612009 | Diffuse scleritis | UMLS ID:C0155356 | ICD10 ID:H15.02 | Brawny scleritis | brawny scleritis | MONDO:0001936 | Brawny scleritis (disorder) +BMGC_DS03596,BMG_DS005045,Posterior scleritis (disorder) | Posterior scleritis | SNOMEDCT ID:267660007 | Sclerotenonitis | posterior scleritis | MONDO:0001774 | ICD10 ID:H15.03 | SNOMEDCT ID:194144007 | SNOMEDCT ID:49429000 | OMIM ID:MTHU053352 | (Posterior scleritis) or (sclerotenonitis) | DOID:13676 | (Posterior scleritis) or (sclerotenonitis) (disorder) | UMLS ID:C0155357 +BMGC_DS03597,BMG_DS005047,scleral staphyloma | UMLS ID:C0155359 | Scleral staphyloma (disorder) | SNOMEDCT ID:111534007 | DOID:11595 | Scleral staphyloma +BMGC_DS03598,BMG_DS005048,Staphyloma posticum (disorder) | SNOMEDCT ID:87819007 | staphyloma posticum | UMLS ID:C0155360 | MONDO:0001801 | DOID:13789 | Posterior staphyloma | Staphyloma posticum | Posterior scleral staphyloma | Partial scleral ectasia | ICD10 ID:H15.83 +BMGC_DS03599,BMG_DS005049,Equatorial staphyloma | DOID:13788 | UMLS ID:C0155361 | ICD10 ID:H15.81 | Equatorial scleral staphyloma | Equatorial staphyloma (disorder) | equatorial staphyloma | SNOMEDCT ID:82146006 | MONDO:0001800 +BMGC_DS03600,BMG_DS005050,Anterior localised staphyloma | Localized anterior staphyloma (disorder) | UMLS ID:C0155362 | localized anterior staphyloma | MONDO:0001799 | Anterior localized staphyloma | Localized anterior staphyloma | ICD10 ID:H15.82 | Localised anterior staphyloma | SNOMEDCT ID:21946002 | DOID:13787 +BMGC_DS03601,BMG_DS005051,ICD10 ID:H15.85 | Ring staphyloma | Ring staphyloma (disorder) | SNOMEDCT ID:5299007 | DOID:11594 | MONDO:0001320 | UMLS ID:C0155363 | ring staphyloma +BMGC_DS03602,BMG_DS005053,vitreous syneresis | UMLS ID:C0155366 | Vitreous degeneration (disorder) | Vitreous degeneration | OMIM ID:MTHU049388 | SNOMEDCT ID:60189009 | ICD10 ID:H43.81 | DOID:11816 | MONDO:0001377 +BMGC_DS03603,BMG_DS005057,SNOMEDCT ID:194160006 | MONDO:0002310 | DOID:2460 | ICD10 ID:H27.12 | Anterior dislocation of lens | Anterior dislocation of lens (disorder) | UMLS ID:C0155372 | SNOMEDCT ID:37283009 | anterior dislocation of lens +BMGC_DS03604,BMG_DS005058,posterior dislocation of lens | MONDO:0001906 | SNOMEDCT ID:194161005 | Posterior dislocation of lens | UMLS ID:C0155373 | ICD10 ID:H27.13 | Posterior dislocation of lens (disorder) | SNOMEDCT ID:14169000 | DOID:14199 +BMGC_DS03605,BMG_DS005059,DOID:14523 | Argyll Robertson pupil | Atypical Argyll-Robertson pupil (disorder) | Nonsyphilitic Argyll-Robertson phenomenon | SNOMEDCT ID:21011008 | UMLS ID:C0155375 | Atypical Argyll-Robertson pupil +BMGC_DS03606,BMG_DS005060,Other anomalies of pupillary function | DOID:11518 | ICD10 ID:H57.09 | UMLS ID:C0155376 | abnormal pupillary function +BMGC_DS03607,BMG_DS005061,Vestibular nystagmus | Nystagmus associated with disorder of the vestibular system | UMLS ID:C0155379 | vestibular nystagmus | SNOMEDCT ID:46888001 | DOID:14070 | Nystagmus associated with disorder of the vestibular system (disorder) +BMGC_DS03608,BMG_DS005062,"UMLS ID:C0155380 | MONDO:0001655 | Nystagmus, Pathologic | MeSH ID:D009759 | DOID:13174 | Dissociated Nystagmus | dissociated nystagmus" +BMGC_DS03609,BMG_DS005064,DOID:379 | external ear disease | UMLS ID:C0155388 | external ear disorder | MONDO:0002776 +BMGC_DS03610,BMG_DS005065,Perichondritis of auricle | UMLS ID:C0155389 | DOID:222 | perichondritis of auricle | ICD11 ID:AA04 | Perichondritis of pinna | SNOMEDCT ID:155210008 | MONDO:0002246 | SNOMEDCT ID:34129005 | Perichondritis of external ear | Perichondritis of pinna (disorder) | ICD10 ID:H61.0 +BMGC_DS03611,BMG_DS005066,SNOMEDCT ID:45855004 | Acute perichondritis of pinna | DOID:221 | acute perichondritis of pinna | Acute perichondritis of pinna (disorder) | UMLS ID:C0155390 | MONDO:0002240 +BMGC_DS03612,BMG_DS005067,MONDO:0001917 | Chronic perichondritis of pinna (disorder) | Chronic pinna perichondritis | Chronic perichondritis of pinna | Chronic pinna perichondritis (& [chondrodermatitis nodularis helicis]) | Chondrodermatitis nodularis helicis | Chronic pinna perichondritis (& [chondrodermatitis nodularis helicis]) (disorder) | SNOMEDCT ID:45431004 | DOID:14243 | UMLS ID:C0155391 | chronic perichondritis of pinna | SNOMEDCT ID:194195009 +BMGC_DS03613,BMG_DS005068,UMLS ID:C0155392 | DOID:10520 | MONDO:0001053 | Acute infection of pinna (disorder) | SNOMEDCT ID:56663002 | Acute infection of pinna | acute infection of pinna +BMGC_DS03614,BMG_DS005069,SNOMEDCT ID:194206006 | SNOMEDCT ID:94146005 | Necrotizing otitis externa | malignant otitis externa | Malignant otitis externa (disorder) | DOID:10516 | ICD10 ID:H60.2 | MONDO:0001050 | ICD11 ID:AA02 | UMLS ID:C0155395 | Malignant otitis externa | Necrotising otitis externa +BMGC_DS03615,BMG_DS005070,MONDO:0001052 | chronic fungal otitis externa | Chronic fungal otitis externa | Chronic mycotic otitis externa | SNOMEDCT ID:111898002 | UMLS ID:C0155396 | DOID:10519 | Chronic mycotic otitis externa (disorder) +BMGC_DS03616,BMG_DS005072,Cholesteatoma of external auditory canal | Cholesteatoma of external ear (disorder) | DOID:9462 | SNOMEDCT ID:35247001 | Cholesteatoma of external ear | ICD10 ID:H60.4 | cholesteatoma of external ear | ICD11 ID:AA40.2 | MONDO:0006532 | UMLS ID:C0155398 +BMGC_DS03617,BMG_DS005075,OMIM ID:128300 | Exostosis of external ear canal (disorder) | External auditory canal exostosis | MONDO:0007498 | Exostosis of external ear canal | SNOMEDCT ID:19560007 | Swimmers exostosis | UMLS ID:C0155411 | ear exostoses +BMGC_DS03618,BMG_DS005077,Acute non-suppurative serous otitis media (disorder) | ICD10 ID:H65.0 | Acute serous or mucoid otitis media | Acute serous otitis media (disorder) | UMLS ID:C0155415 | MONDO:0001312 | ICD11 ID:AA80 | DOID:11557 | Acute non-suppurative serous otitis media | SNOMEDCT ID:194240006 | Acute nonsuppurative serous otitis media | Acute serous otitis media | SNOMEDCT ID:11957006 | acute serous otitis media +BMGC_DS03619,BMG_DS005078,DOID:11558 | UMLS ID:C0155418 | SNOMEDCT ID:59275002 | MONDO:0001313 | Acute allergic serous otitis media | acute allergic serous otitis media | Acute allergic serous otitis media (disorder) | SNOMEDCT ID:194241005 +BMGC_DS03620,BMG_DS005079,UMLS ID:C0155419 | Acute allergic mucoid otitis media (disorder) | MONDO:0004864 | SNOMEDCT ID:8326008 | DOID:9735 | acute allergic mucoid otitis media | SNOMEDCT ID:194242003 | Acute allergic mucoid otitis media +BMGC_DS03621,BMG_DS005080,Acute allergic sanguineous otitis media (disorder) | MONDO:0002757 | UMLS ID:C0155420 | DOID:3728 | SNOMEDCT ID:17866004 | Acute allergic sanguinous otitis media | acute allergic sanguinous otitis media | Acute allergic sanguineous otitis media +BMGC_DS03622,BMG_DS005081,"UMLS ID:C0155421 | serous glue ear | Chronic serous or mucoid otitis media | ICD10 ID:H65.2 | Chronic non-suppurative otitis media with effusion - serous | DOID:11181 | Chronic serous otitis media (disorder) | ICD11 ID:AA82 | Glue ear - serous | Simple chronic serous otitis media | Chronic secretory otitis media, serous | Chronic serous otitis media | MONDO:0001213 | SNOMEDCT ID:81564005 | Otitis media with effusion - serous" +BMGC_DS03623,BMG_DS005082,Eustachian tube salpingitis (disorder) | Catarrh - eustachian | Eustachian tube salpingitis | UMLS ID:C0155428 | SNOMEDCT ID:270491006 | Tubotympanitis | Eustachian salpingitis | Eustachian tube: [salpingitis] or [catarrh] | otosalpingitis | SNOMEDCT ID:194266009 | MONDO:0002172 | Eustachian tube: [salpingitis] or [catarrh] (disorder) | Otosalpingitis | DOID:2000 +BMGC_DS03624,BMG_DS005083,Acute eustachian tube salpingitis | Acute eustachian tube salpingitis (disorder) | MONDO:0001064 | SNOMEDCT ID:194268005 | UMLS ID:C0155429 | acute eustachian salpingitis | DOID:10550 +BMGC_DS03625,BMG_DS005084,Chronic eustachian tube salpingitis | DOID:1999 | UMLS ID:C0155430 | SNOMEDCT ID:194269002 | chronic eustachian salpingitis | Chronic eustachian tube salpingitis (disorder) | Chronic eustachian salpingitis | MONDO:0002170 +BMGC_DS03626,BMG_DS005087,Patulous eustachian tube (disorder) | DOID:12358 | MONDO:0001508 | patulous eustachian tube | UMLS ID:C0155434 | Patulous eustachian tube | SNOMEDCT ID:30280005 +BMGC_DS03627,BMG_DS005088,UMLS ID:C0155435 | DOID:9739 | eustachian tube disease +BMGC_DS03628,BMG_DS005089,UMLS ID:C0155439 | DOID:10435 | purulent acute otitis media +BMGC_DS03629,BMG_DS005090,Chronic suppurative otitis media - tubotympanic | ICD11 ID:AA91.0 | DOID:14435 | UMLS ID:C0155440 | Chronic tubotympanic suppurative otitis media (disorder) | chronic tubotympanic suppurative otitis media | Chronic tubotympanic suppurative otitis media | MONDO:0001964 | ICD10 ID:H66.1 | SNOMEDCT ID:87665008 +BMGC_DS03630,BMG_DS005091,ICD10 ID:H66.2 | MONDO:0001921 | Chronic atticoantral disease with posterior AND/OR superior marginal perforation of ear drum | Chronic suppurative otitis media - atticoantral | DOID:14248 | Chronic atticoantral suppurative otitis media | UMLS ID:C0155441 | Persistent mucosal disease with posterior AND/OR superior marginal perforation of ear drum | ICD11 ID:AA91.1 | SNOMEDCT ID:41954005 | chronic atticoantral disease | Chronic atticoantral suppurative otitis media (disorder) +BMGC_DS03631,BMG_DS005095,Petrositis (disorder) | petrositis | Petrositis | ICD11 ID:AB11.2 | SNOMEDCT ID:34997001 | MeSH ID:D059270 | Petrositis &/or other mastoiditis (disorder) | SNOMEDCT ID:155233009 | Petrositis &/or other mastoiditis | DOID:10755 | ICD10 ID:H70.2 | Other mastoiditis | Inflammation of petrous bone | MONDO:0001109 | SNOMEDCT ID:267760001 | UMLS ID:C0155448 +BMGC_DS03632,BMG_DS005096,petrositis | Acute petrositis (disorder) | UMLS ID:C0155449 | ICD10 ID:H70.21 | Acute petrositis | DOID:10755 | SNOMEDCT ID:51211002 +BMGC_DS03633,BMG_DS005097,SNOMEDCT ID:28593007 | petrositis | ICD10 ID:H70.22 | UMLS ID:C0155450 | Chronic petrositis | Chronic petrositis (disorder) | DOID:10755 +BMGC_DS03634,BMG_DS005100,Acute tympanitis | Acute myringitis (disorder) | Acute myringitis | DOID:13790 | ICD10 ID:H73.0 | UMLS ID:C0155460 | MONDO:0001802 | SNOMEDCT ID:297009 | acute tympanitis | ICD11 ID:AB14 +BMGC_DS03635,BMG_DS005101,Myringitis bullosa hemorrhagica | myringitis bullosa hemorrhagica | MONDO:0001803 | Myringitis bullosa | UMLS ID:C0155461 | Myringitis bullosa haemorrhagica | DOID:13791 | Bullous myringitis (disorder) | ICD10 ID:H73.01 | SNOMEDCT ID:33528003 | Bullous myringitis +BMGC_DS03636,BMG_DS005106,UMLS ID:C0155470 | MONDO:0003647 | Atrophic flaccid tympanic membrane | DOID:5781 | SNOMEDCT ID:38645004 | Atrophic flaccid tympanic membrane (disorder) | ICD10 ID:H73.81 | atrophic flaccid tympanic membrane +BMGC_DS03637,BMG_DS005107,UMLS ID:C0155471 | SNOMEDCT ID:194323000 | atrophic nonflaccid tympanic membrane | Atrophic nonflaccid tympanic membrane | ICD10 ID:H73.82 | SNOMEDCT ID:72052003 | MONDO:0001547 | DOID:12546 | Atrophic nonflaccid tympanic membrane (disorder) +BMGC_DS03638,BMG_DS005109,tympanosclerosis | Tympanosclerosis involving other combination of structures (disorder) | UMLS ID:C0155477 | DOID:1214 | Tympanosclerosis involving other combination of structures | SNOMEDCT ID:111540000 +BMGC_DS03639,BMG_DS005110,Chronic adhesive otitis media | Adhesive middle ear disease | Adhesive middle ear disease (disorder) | adhesive otitis media | Fibrotic adhesive otitis media | Adhesive otitis media | UMLS ID:C0155478 | ICD11 ID:AB17 | MONDO:0001234 | DOID:11235 | ICD10 ID:H74.1 | SNOMEDCT ID:7699004 +BMGC_DS03640,BMG_DS005112,UMLS ID:C0155487 | dislocation of ear ossicle | DOID:11129 +BMGC_DS03641,BMG_DS005113,DOID:11783 | necrosis of ear ossicle | UMLS ID:C0155488 +BMGC_DS03642,BMG_DS005114,SNOMEDCT ID:38708003 | Cholesteatoma of attic (disorder) | cholesteatoma of attic | DOID:10963 | UMLS ID:C0155489 | MONDO:0006531 | ICD10 ID:H71.0 | Cholesteatoma of attic +BMGC_DS03643,BMG_DS005115,"DOID:10964 | cholesteatoma of middle ear | Middle Ear Cholesteatoma | MeSH ID:D018424 | Cholesteatoma, Middle Ear | UMLS ID:C0155490 | MONDO:0006533" +BMGC_DS03644,BMG_DS005117,DOID:10852 | UMLS ID:C0155492 | MONDO:0001141 | middle ear cholesterol granuloma +BMGC_DS03645,BMG_DS005119,Active cochleovestibular Ménière disease | UMLS ID:C0155496 | Active cochleovestibular Meniere's disease | active cochleovestibular Meniere disease | Active cochleovestibular Ménière's disease (disorder) | Active cochleovestibular Ménière's disease | SNOMEDCT ID:194348002 | active cochleovestibular Meniere's disease | DOID:13490 | MONDO:0001727 +BMGC_DS03646,BMG_DS005120,active cochlear Meniere disease | Active cochlear Ménière's disease | Active cochlear Ménière disease | Active cochlear Meniere's disease | UMLS ID:C0155497 | MONDO:0001729 | DOID:13492 | active cochlear Meniere's disease | Active cochlear Ménière's disease (disorder) | SNOMEDCT ID:194349005 +BMGC_DS03647,BMG_DS005121,Active vestibular Ménière's disease (disorder) | SNOMEDCT ID:194350005 | active vestibular Meniere's disease | UMLS ID:C0155498 | Active vestibular Ménière disease | MONDO:0001728 | DOID:13491 | Active vestibular Meniere's disease | active vestibular Meniere disease | Active vestibular Ménière's disease +BMGC_DS03648,BMG_DS005123,"MONDO:0004900 | UMLS ID:C0155501 | Vertigo | Vertigo, Peripheral | peripheral vertigo | MeSH ID:D014717" +BMGC_DS03649,BMG_DS005124,OMIM ID:193007 | DOID:13941 | MONDO:8000018 | UMLS ID:C0155502 | benign paroxysmal positional vertigo | Benign Paroxysmal Positional Vertigo | MeSH ID:D065635 +BMGC_DS03650,BMG_DS005125,central nervous system origin vertigo | DOID:2479 | Vertigo | MONDO:0002317 | Central Nervous System Origin Vertigo | UMLS ID:C0155503 | MeSH ID:D014717 +BMGC_DS03651,BMG_DS005126,serous labyrinthitis | Serous labyrinthitis | MONDO:0002006 | UMLS ID:C0155504 | SNOMEDCT ID:41674001 | DOID:1467 | Serous labyrinthitis (disorder) +BMGC_DS03652,BMG_DS005127,SNOMEDCT ID:194364005 | Circumscribed labyrinthitis (disorder) | UMLS ID:C0155505 | Circumscribed labyrinthitis | MONDO:0001820 | DOID:13867 | focal labyrinthitis | SNOMEDCT ID:61794006 | Focal labyrinthitis +BMGC_DS03653,BMG_DS005128,DOID:13534 | MONDO:0001739 | Purulent labyrinthitis | Suppurative labyrinthitis (disorder) | SNOMEDCT ID:24817009 | Suppurative labyrinthitis | purulent labyrinthitis | UMLS ID:C0155506 +BMGC_DS03654,BMG_DS005129,DOID:14081 | toxic labyrinthitis | SNOMEDCT ID:3344003 | MONDO:0001874 | Toxic labyrinthitis (disorder) | Toxic labyrinthitis | UMLS ID:C0155507 +BMGC_DS03655,BMG_DS005130,Viral otitis interna | DOID:12357 | Vestibular neuronitis | SNOMEDCT ID:409711008 | Vestibular neuritis | Epidemic neurolabyrinthitis | Viral labyrinthitis (disorder) | Epidemic vertigo | SNOMEDCT ID:34243007 | Viral labyrinthitis | UMLS ID:C0155508 | MONDO:0001507 | viral labyrinthitis | Acute peripheral vestibulopathy +BMGC_DS03656,BMG_DS005131,UMLS ID:C0155514 | labyrinthine dysfunction | Labyrinthine dysfunction (disorder) | ICD10 ID:H83.2 | Labyrinthine dysfunction | DOID:566 | SNOMEDCT ID:5239005 | ICD10 ID:H83.2X | ICD11 ID:AB36 +BMGC_DS03657,BMG_DS005132,UMLS ID:C0155515 | DOID:1777 | MONDO:0002107 | unilateral hyperactive labyrinth +BMGC_DS03658,BMG_DS005133,MONDO:0001897 | SNOMEDCT ID:194373002 | Hyperactive bilateral labyrinthine dysfunction | UMLS ID:C0155516 | Hyperactive bilateral labyrinthine dysfunction (disorder) | bilateral hyperactive labyrinth | DOID:14165 +BMGC_DS03659,BMG_DS005134,UMLS ID:C0155517 | unilateral hypoactive labyrinth | DOID:9496 | MONDO:0004801 +BMGC_DS03660,BMG_DS005135,UMLS ID:C0155518 | SNOMEDCT ID:194375009 | Hypoactive bilateral labyrinthine dysfunction (disorder) | bilateral hypoactive labyrinth | Hypoactive bilateral labyrinthine dysfunction | DOID:565 | MONDO:0003567 +BMGC_DS03661,BMG_DS005136,UMLS ID:C0155519 | labyrinthine unilateral reactive loss | DOID:1776 | MONDO:0002106 +BMGC_DS03662,BMG_DS005137,UMLS ID:C0155520 | DOID:14413 | MONDO:0001959 | labyrinthine bilateral reactive loss +BMGC_DS03663,BMG_DS005142,MONDO:0000988 | otorrhea | DOID:10261 | UMLS ID:C0155540 | discharging ear +BMGC_DS03664,BMG_DS005154,SNOMEDCT ID:155287003 | Chronic rheumatic heart disease with pericarditis | MONDO:0002133 | ICD11 ID:BB21 | Rheumatic heart disease with pericarditis | Chronic pericarditis due to rheumatic heart disease (disorder) | chronic rheumatic pericarditis | SNOMEDCT ID:194719006 | DOID:1869 | SNOMEDCT ID:78069008 | ICD10 ID:I09.2 | Chronic rheumatic pericarditis (disorder) | UMLS ID:C0155561 | Chronic rheumatic pericarditis | Chronic pericarditis due to rheumatic heart disease +BMGC_DS03665,BMG_DS005155,ICD11 ID:BB61.0 | DOID:61 | Rheumatic mitral insufficiency | SNOMEDCT ID:155278007 | Rheumatic mitral incompetence | UMLS ID:C0155563 | mitral valve disease | Rheumatic mitral regurgitation | ICD10 ID:I05.1 | Rheumatic mitral regurgitation (disorder) | Rheumatic mitral valve insufficiency | SNOMEDCT ID:31085000 +BMGC_DS03666,BMG_DS005156,UMLS ID:C0155567 | SNOMEDCT ID:155282009 | aortic valve stenosis | ICD10 ID:I06.0 | SNOMEDCT ID:72011007 | ICD11 ID:BB70.0 | Rheumatic aortic valve stenosis | Rheumatic aortic stenosis | DOID:1712 | Rheumatic aortic stenosis (disorder) +BMGC_DS03667,BMG_DS005157,aortic valve insufficiency | Aortic incompetence - rheumatic | ICD10 ID:I06.1 | Rheumatic aortic incompetence | SNOMEDCT ID:78031003 | ICD11 ID:BB71.0 | UMLS ID:C0155568 | Rheumatic aortic regurgitation | SNOMEDCT ID:155283004 | Rheumatic aortic insufficiency | Rheumatic aortic regurgitation (disorder) | Rheumatic aortic valve insufficiency | DOID:57 +BMGC_DS03668,BMG_DS005159,DOID:5748 | ICD10 ID:I09.89 | UMLS ID:C0155579 | SNOMEDCT ID:18687009 | Rheumatic disease of pulmonary valve (disorder) | Rheumatic pulmonary valve disease | rheumatic pulmonary valve disease | Rheumatic disease of pulmonary valve | MONDO:0003627 +BMGC_DS03669,BMG_DS005160,Congestive rheumatic heart failure (disorder) | DOID:14172 | rheumatic congestive heart failure | MONDO:0001899 | SNOMEDCT ID:82523003 | Congestive rheumatic heart failure | UMLS ID:C0155582 +BMGC_DS03670,BMG_DS005161,DOID:10913 | Benign essential hypertension | UMLS ID:C0155583 | MONDO:0001151 | benign essential hypertension | Benign essential hypertension (disorder) | SNOMEDCT ID:1201005 | SNOMEDCT ID:194758001 +BMGC_DS03671,BMG_DS005167,malignant hypertensive renal disease | SNOMEDCT ID:65443008 | Malignant hypertensive renal disease | UMLS ID:C0155593 | DOID:10177 | Malignant hypertensive renal disease (disorder) | MONDO:0000959 +BMGC_DS03672,BMG_DS005168,benign hypertensive renal disease | Benign hypertensive renal disease | UMLS ID:C0155596 | MONDO:0001304 | Benign hypertensive renal disease (disorder) | DOID:11520 | SNOMEDCT ID:193003 +BMGC_DS03673,BMG_DS005173,MONDO:0001200 | SNOMEDCT ID:155300002 | SNOMEDCT ID:31992008 | DOID:11130 | Secondary hypertension (disorder) | UMLS ID:C0155616 | ICD10 ID:I15 | Secondary hypertension | secondary hypertension +BMGC_DS03674,BMG_DS005174,MONDO:0001785 | SNOMEDCT ID:89242004 | Malignant secondary hypertension (disorder) | DOID:13731 | malignant secondary hypertension | Accelerated secondary hypertension | UMLS ID:C0155617 | Malignant secondary hypertension +BMGC_DS03675,BMG_DS005175,Benign secondary hypertension | Secondary benign hypertension (disorder) | benign secondary hypertension | Benign secondary hypertension (disorder) | SNOMEDCT ID:44111003 | Secondary benign hypertension | UMLS ID:C0155620 | DOID:13143 | MONDO:0001646 | SNOMEDCT ID:194785008 +BMGC_DS03676,BMG_DS005176,benign renovascular hypertension | MONDO:0001647 | DOID:13145 | UMLS ID:C0155621 +BMGC_DS03677,BMG_DS005177,Thrombosis - coronary | ICD10 ID:I21 | MI - acute myocardial infarction | Acute myocardial infarction | DOID:9408 | Acute myocardial infarction (disorder) | (Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) | Coronary thrombosis | SNOMEDCT ID:57054005 | Attack - heart | Myocardial infarction (& [acute]) or coronary thrombosis (disorder) | MI - Acute myocardial infarction | SNOMEDCT ID:194796000 | Myocardial infarct | UMLS ID:C0155626 | MONDO:0004781 | SNOMEDCT ID:155304006 | Myocardial infarction (& [acute]) or coronary thrombosis | Silent myocardial infarction | (Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) (disorder) | acute myocardial infarction | AMI - Acute myocardial infarction | MI/Acute myocardial infarction | Cardiac rupture following myocardial infarction (MI) | Cardiac rupture after acute myocardial infarction | SNOMEDCT ID:266288001 | Heart attack +BMGC_DS03678,BMG_DS005178,Acute myocardial infarction of anterolateral wall | MONDO:0001090 | UMLS ID:C0155627 | DOID:10651 | Acute anterolateral myocardial infarction | Acute myocardial infarction of anterolateral wall (disorder) | acute anterolateral myocardial infarction | SNOMEDCT ID:70211005 +BMGC_DS03679,BMG_DS005179,acute inferolateral myocardial infarction | DOID:10649 | UMLS ID:C0155636 +BMGC_DS03680,BMG_DS005180,DOID:10648 | acute inferoposterior infarction | UMLS ID:C0155640 +BMGC_DS03681,BMG_DS005181,UMLS ID:C0155652 | strictly posterior acute myocardial infarction | DOID:9407 +BMGC_DS03682,BMG_DS005182,DOID:10266 | UMLS ID:C0155655 | subendocardial infarction acute myocardial infarction +BMGC_DS03683,BMG_DS005184,acute cor pulmonale | Acute pulmonary heart disease | UMLS ID:C0155671 | SNOMEDCT ID:67189007 | SNOMEDCT ID:155324005 | SNOMEDCT ID:194880009 | Acute cor pulmonale | MONDO:0004598 | Acute cor pulmonale (disorder) | SNOMEDCT ID:49584005 | acute pulmonary heart disease | Acute pulmonary heart disease (disorder) | DOID:8514;DOID:8517 +BMGC_DS03684,BMG_DS005185,UMLS ID:C0155673 | chronic pulmonary heart disease | DOID:12326 +BMGC_DS03685,BMG_DS005187,SNOMEDCT ID:194902002 | Acute pericarditis (disorder) | UMLS ID:C0155679 | (Acute pericarditis) or (acute pericardial effusion) | SNOMEDCT ID:155333007 | SNOMEDCT ID:15555002 | (Acute pericarditis) or (acute pericardial effusion) (disorder) | Pericardial effusion - acute | ICD10 ID:I30 | Acute pericarditis +BMGC_DS03686,BMG_DS005191,acute myocarditis | ICD10 ID:I40 | Acute myocarditis | Acute myocarditis (disorder) | SNOMEDCT ID:46701001 | MONDO:0002815 | SNOMEDCT ID:155336004 | UMLS ID:C0155686 | DOID:3951 +BMGC_DS03687,BMG_DS005192,SNOMEDCT ID:266238009 | Isolated (Fiedler's) myocarditis | UMLS ID:C0155689 | SNOMEDCT ID:194954007 | Giant cell myocarditis | Fiedler's myocarditis | Isolated (Fiedler's) myocarditis (disorder) | MONDO:0001113 | Myocarditis: [isolated - Fiedler's] or [giant cell] (disorder) | fiedler's myocarditis | DOID:10778 | Myocarditis: [isolated - Fiedler's] or [giant cell] +BMGC_DS03688,BMG_DS005193,ICD11 ID:BC42.1 | UMLS ID:C0155690 | SNOMEDCT ID:64043005 | DOID:10779 | Infectious myocarditis | ICD10 ID:I40.0 | septic myocarditis | Bacterial myocarditis (disorder) | Bacterial myocarditis | Septic myocarditis +BMGC_DS03689,BMG_DS005194,Acute toxic disorder of myocardium | MONDO:0004851 | Toxic myocarditis | UMLS ID:C0155691 | Toxic myocarditis (disorder) | SNOMEDCT ID:31993003 | DOID:9694 | toxic myocarditis +BMGC_DS03690,BMG_DS005198,extrinsic cardiomyopathy | UMLS ID:C0155699 | DOID:3978 +BMGC_DS03691,BMG_DS005199,UMLS ID:C0155700 | Mobitz type II atrioventricular block (disorder) | Mobitz type II atrioventricular block | Mobitz type II incomplete atrioventricular block | MONDO:0001261 | SNOMEDCT ID:28189009 | DOID:11312 | Second degree Mobitz type II incomplete atrioventricular block +BMGC_DS03692,BMG_DS005200,SNOMEDCT ID:195044001 | left bundle branch hemiblock | Left bundle branch hemiblock | UMLS ID:C0155702 | SNOMEDCT ID:266245009 | Left bundle branch [block] or [hemiblock] | Left bundle branch block | Left bundle branch hemiblock (disorder) | SNOMEDCT ID:4973001 | Left bundle branch [block] or [hemiblock] (disorder) | DOID:10272 +BMGC_DS03693,BMG_DS005201,SNOMEDCT ID:46319007 | DOID:13209 | Right bundle branch block with left posterior fascicular block | Right bundle branch block AND left posterior fascicular block | UMLS ID:C0155704 | Right bundle branch block AND left posterior fascicular block (disorder) | right bundle branch block | RBBB - Right bundle branch block with left posterior fascicular block +BMGC_DS03694,BMG_DS005205,DOID:11299 | UMLS ID:C0155724 | vertebral artery occlusion +BMGC_DS03695,BMG_DS005206,ICD10 ID:I65.9 | UMLS ID:C0155727 | ICD11 ID:BD55 | DOID:5976 | occlusion precerebral artery | Occlusion and stenosis of unspecified precerebral artery | Asymptomatic stenosis of intracranial or extracranial artery +BMGC_DS03696,BMG_DS005208,Atherosclerosis of aorta (disorder) | UMLS ID:C0155733 | SNOMEDCT ID:81817003 | ICD11 ID:BD40.1 | aortic atherosclerosis | Atherosclerosis of aorta | ICD10 ID:I70.0 | DOID:10230 | MONDO:0000980 | Atherosclerotic aorta +BMGC_DS03697,BMG_DS005209,Renal artery atherosclerosis | SNOMEDCT ID:45281005 | Atherosclerosis renal artery | ICD11 ID:BD40.2 | renal artery atheroma | MONDO:0001876 | Renal artery atheroma | Atherosclerosis of renal artery (disorder) | ICD10 ID:I70.1 | DOID:14092 | UMLS ID:C0155734 | Atherosclerosis of renal artery +BMGC_DS03698,BMG_DS005219,MONDO:0001574 | Disorder of capillaries (disorder) | Disorder of capillaries | Capillary disorder | capillary disease | Capillary disease | capillary disorder | Disease of capillaries | DOID:1271 | SNOMEDCT ID:58729003 | Microangiopathy | UMLS ID:C0155765 +BMGC_DS03699,BMG_DS005221,DOID:10880 | UMLS ID:C0155772 | Phlebitis and thrombophlebitis of iliac vein (disorder) | iliac vein thrombophlebitis | SNOMEDCT ID:840713005 | Phlebitis and thrombophlebitis of iliac vein | ICD10 ID:I80.21 +BMGC_DS03700,BMG_DS005222,UMLS ID:C0155773 | MONDO:0001339 | portal vein thrombosis | DOID:11695 +BMGC_DS03701,BMG_DS005223,DOID:866 | UMLS ID:C0155774 | vein disease +BMGC_DS03702,BMG_DS005228,MONDO:0004871 | UMLS ID:C0155784 | perianal hematoma | DOID:9745 +BMGC_DS03703,BMG_DS005230,BOV - Bleeding oesophageal varices | Bleeding oesophageal varices | BOV - Bleeding esophageal varices | Esophageal varices with bleeding | Bleeding esophageal varices | UMLS ID:C0155789 | esophageal varix | esophageal varices with bleeding | SNOMEDCT ID:17709002 | SNOMEDCT ID:236067006 | Bleeding oesophageal varices (disorder) | Esophageal varices with hemorrhage | Bleeding esophageal varices (disorder) | Oesophageal varices with bleeding | DOID:112 | Oesophageal varices with haemorrhage | MONDO:0021645 +BMGC_DS03704,BMG_DS005231,DOID:112 | esophageal varix | UMLS ID:C0155791 +BMGC_DS03705,BMG_DS005232,DOID:112 | esophageal varix | UMLS ID:C0155792 +BMGC_DS03706,BMG_DS005233,Varicose veins of pelvis | MONDO:0004869 | pelvic varices | DOID:9742 | SNOMEDCT ID:17406005 | UMLS ID:C0155795 | Varicose veins of pelvis (disorder) | Pelvic varices +BMGC_DS03707,BMG_DS005236,Acute sinusitis | MONDO:0002186 | Acute maxillary sinusitis (disorder) | acute maxillary sinusitis | Maxillary sinus | SNOMEDCT ID:155499007 | ICD11 ID:CA01 | Acute maxillary sinusitis | ICD11 ID:XA1R64 | DOID:2050 | SNOMEDCT ID:68272006 | Acute antritis | ICD10 ID:J01.0 | UMLS ID:C0155804 +BMGC_DS03708,BMG_DS005237,Frontal sinus | Acute sinusitis | MONDO:0001912 | DOID:14225 | ICD10 ID:J01.1 | acute frontal sinusitis | ICD11 ID:CA01 | SNOMEDCT ID:155500003 | ICD11 ID:XA91G8 | Acute frontal sinusitis | Acute frontal sinusitis (disorder) | UMLS ID:C0155805 | SNOMEDCT ID:91038008 +BMGC_DS03709,BMG_DS005238,Acute sinusitis | MONDO:0004810 | UMLS ID:C0155806 | ICD11 ID:XA58F6 | DOID:9506 | acute ethmoiditis | Acute ethmoidal sinusitis (disorder) | ICD11 ID:CA01 | Acute ethmoidal sinusitis | Ethmoid sinus | Acute ethmoiditis | ICD10 ID:J01.2 | SNOMEDCT ID:67832005 +BMGC_DS03710,BMG_DS005239,Acute sinusitis | ICD10 ID:J01.3 | UMLS ID:C0155807 | ICD11 ID:XA4U67 | DOID:13046 | acute sphenoidal sinusitis | Acute sphenoidal sinusitis (disorder) | Sphenoid sinus | ICD11 ID:CA01 | Acute sphenoidal sinusitis | MONDO:0001624 | SNOMEDCT ID:77919000 +BMGC_DS03711,BMG_DS005242,Acute laryngitis and/or tracheitis | UMLS ID:C0155811 | Acute laryngitis/tracheitis | DOID:0050148 | Acute laryngitis and/or tracheitis (disorder) | laryngotracheitis | SNOMEDCT ID:276443001 +BMGC_DS03712,BMG_DS005244,MONDO:0041366 | DOID:9398 | SNOMEDCT ID:29608009 | Acute epiglottitis (disorder) | UMLS ID:C0155814 | Acute epiglottitis | acute epiglottitis | epiglottitis | ICD10 ID:J05.1 | ICD11 ID:CA06.1 | Acute epiglottitis and supraglottitis +BMGC_DS03713,BMG_DS005246,ICD11 ID:CA04 | UMLS ID:C0155817 | Acute laryngopharyngitis | ICD10 ID:J06.0 | acute laryngopharyngitis | DOID:11195 | MONDO:0001218 | Acute laryngopharyngitis (disorder) | SNOMEDCT ID:55355000 +BMGC_DS03714,BMG_DS005250,pharyngitis | UMLS ID:C0155824 | DOID:2275 | SNOMEDCT ID:195763009 | Chronic pharyngitis and nasopharyngitis (disorder) | Chronic pharyngitis and nasopharyngitis +BMGC_DS03715,BMG_DS005252,nasopharyngitis | SNOMEDCT ID:47841006 | ICD11 ID:CA09.1 | SNOMEDCT ID:155524006 | Chronic nasopharyngitis (disorder) | DOID:10460 | Chronic nasopharyngitis | ICD10 ID:J31.1 | UMLS ID:C0155826 +BMGC_DS03716,BMG_DS005259,UMLS ID:C0155836 | DOID:11797 | MONDO:0001369 | ICD10 ID:J37.0 | SNOMEDCT ID:29951006 | ICD11 ID:CA0G | chronic laryngitis | SNOMEDCT ID:155535001 | Chronic laryngitis or laryngotracheitis | Chronic laryngitis (disorder) | Chronic laryngitis +BMGC_DS03717,BMG_DS005260,Chronic laryngotracheitis (disorder) | SNOMEDCT ID:83271005 | ICD10 ID:J37.1 | UMLS ID:C0155837 | Chronic laryngotracheitis | DOID:0050148 | ICD11 ID:CA0G | Chronic laryngitis or laryngotracheitis | laryngotracheitis +BMGC_DS03718,BMG_DS005272,UMLS ID:C0155860 | SNOMEDCT ID:41381004 | Pneumonia caused by Pseudomonas | Pneumonia caused by Pseudomonas (disorder) | Pseudomonal pneumonia +BMGC_DS03719,BMG_DS005273,SNOMEDCT ID:34020007 | streptococcal pneumonia | Streptococcal pneumonia | UMLS ID:C0155862 | MONDO:0005972 | Pneumonia caused by Streptococcus (disorder) | Pneumonia caused by Streptococcus +BMGC_DS03720,BMG_DS005275,Woolsorters' disease | inhalational anthrax | Inhalational anthrax | Pulmonary anthrax | SNOMEDCT ID:11389007 | Inhalational anthrax (disorder) | MONDO:0016595 | UMLS ID:C0155866 | Respiratory anthrax +BMGC_DS03721,BMG_DS005282,Allergic atopic asthma | MONDO:0004784 | Hay fever with asthma | Allergic asthma (disorder) | Asthma: [extrinsic - atopic] or [allergic] or [pollen] or [childhood] or [with hay fever] | Childhood asthma | Extrinsic asthma | SNOMEDCT ID:233680000 | Allergic asthma | Pollen asthma | Extrinsic asthma (disorder) | SNOMEDCT ID:195968006 | Extrinsic (atopic) asthma | UMLS ID:C0155877 | SNOMEDCT ID:389145006 | Atopic asthma | DOID:9415 | SNOMEDCT ID:16862005 | allergic asthma | Asthma: [extrinsic - atopic] or [allergic] or [pollen] or [childhood] or [with hay fever] (disorder) +BMGC_DS03722,BMG_DS005284,Non-allergic asthma | Intrinsic asthma | Late-onset asthma (LOA) | Asthma: [intrinsic] or [late onset] (disorder) | Intrinsic asthma (disorder) | Late-onset asthma | SNOMEDCT ID:266361008 | Late onset asthma | (Intrinsic asthma) or (late onset asthma) (disorder) | SNOMEDCT ID:195973000 | SNOMEDCT ID:266397004 | DOID:9360 | Asthma: [intrinsic] or [late onset] | SNOMEDCT ID:155576005 | (Intrinsic asthma) or (late onset asthma) | UMLS ID:C0155880 | LOA - late onset asthma | Asthma due to internal immunological process | MONDO:0004765 | SNOMEDCT ID:8312004 | intrinsic asthma | Non-allergic asthma (disorder) +BMGC_DS03723,BMG_DS005286,Malt workers lung | Malt workers' lung | Malt fever | SNOMEDCT ID:25897000 | malt worker's lung | Malt-workers' lung | Malt house workers' cough | Alveolitis due to Aspergillus clavatus AND/OR fumigatus | UMLS ID:C0155888 | Malt-workers' alveolitis | MONDO:0002266 | Malt workers' hypersensitivity pneumonitis | Malt-workers' lung disease | Malt-workers' lung (disorder) | DOID:2314 +BMGC_DS03724,BMG_DS005287,mushroom workers' lung | Mushroom Worker's Lung | MeSH ID:D005203 | UMLS ID:C0155889 | MONDO:0005865 | DOID:2708 | Farmer's Lung +BMGC_DS03725,BMG_DS005288,UMLS ID:C0155890 | Maple-bark disease | Maple bark strippers lung | Maple bark strippers' hypersensitivity pneumonitis | SNOMEDCT ID:86638007 | Maple-bark strippers' lung (disorder) | Maple-bark strippers' lung | maple bark strippers' lung | Alveolitis due to Cryptostroma corticale | Maple bark strippers' lung | Maple-bark strippers' disease | MONDO:0004584 | DOID:8484 +BMGC_DS03726,BMG_DS005289,Humidifier hypersensitivity pneumonitis | Humidifier lung (disorder) | Air-conditioner and humidifier lung | ventilation pneumonitis | DOID:11289 | Ventilation pneumonitis | Humidifier AND/OR air conditioning pneumonitis | Air conditioner lung | Sauna takers lung | SNOMEDCT ID:48347002 | UMLS ID:C0155891 | Humidifier lung | MONDO:0001255 +BMGC_DS03727,BMG_DS005296,UMLS ID:C0155907 | MONDO:0002075 | ICD11 ID:CB21.0 | spontaneous tension pneumothorax | ICD10 ID:J93.0 | SNOMEDCT ID:196102003 | Spontaneous tension pneumothorax | DOID:1672 | SNOMEDCT ID:76537003 | Spontaneous tension pneumothorax (disorder) +BMGC_DS03728,BMG_DS005297,Abscess of lung and mediastinum (disorder) | ICD10 ID:J85 | Abscess of lung and mediastinum | UMLS ID:C0155908 | SNOMEDCT ID:196107009 +BMGC_DS03729,BMG_DS005300,OMIM ID:265100 | DOID:12117 | Pulmonary Alveolar Microlithiasis | MONDO:0009928 | MeSH ID:C562405 | UMLS ID:C0155912 | pulmonary alveolar microlithiasis +BMGC_DS03730,BMG_DS005301,Compensatory emphysema | SNOMEDCT ID:33325001 | MONDO:0000924 | ICD11 ID:CB40.4 | Compensatory emphysema (disorder) | DOID:10031 | compensatory emphysema | ICD10 ID:J98.3 | UMLS ID:C0155918 +BMGC_DS03731,BMG_DS005302,Acute pulmonary edema | SNOMEDCT ID:40541001 | Acute pulmonary oedema | ICD10 ID:J81.0 | Pulmonary oedema - acute | SNOMEDCT ID:123262009 | UMLS ID:C0155919 | Acute pulmonary edema (disorder) | Pulmonary edema - acute | Acute edema of lung | Acute oedema of lung +BMGC_DS03732,BMG_DS005305,MONDO:0008007 | OMIM ID:157950 | DOID:12661 | tooth ankylosis | UMLS ID:C0155930 | MeSH ID:D020254 | Tooth Ankylosis +BMGC_DS03733,BMG_DS005307,DOID:11693 | acute apical periodontitis | ICD11 ID:DA09.70 | UMLS ID:C0155934 | ICD10 ID:K04.4 | Acute apical periodontitis | Acute apical periodontitis of pulpal origin | Acute apical periodontitis of pulpal origin (disorder) | SNOMEDCT ID:88071000 +BMGC_DS03734,BMG_DS005309,gingivitis | Other specified gingival diseases | SNOMEDCT ID:31642005 | DOID:3087 | ICD11 ID:DA0B.Y | SNOMEDCT ID:234990002 | ICD10 ID:K05.0 | Acute gingivitis | Acute gingivitis (disorder) | UMLS ID:C0155937 | SNOMEDCT ID:155643004 | Acute gingival inflammation +BMGC_DS03735,BMG_DS005320,DOID:14111 | UMLS ID:C0155963 | MONDO:0001880 | median rhomboid glossitis +BMGC_DS03736,BMG_DS005321,Bald tongue | DOID:1453 | SNOMEDCT ID:196585008 | Smooth atrophic tongue | Tongue denuded of papillae | MONDO:0001989 | Atrophic glossitis | Atrophy of tongue papillae | SNOMEDCT ID:196588005 | SNOMEDCT ID:196586009 | Glossodynia exfoliativa | Moeller's glossodynia exfoliativa | ICD11 ID:DA03.2 | Moeller's glossitis | Glazed tongue | Atrophy of tongue papillae (disorder) | UMLS ID:C0155964 | SNOMEDCT ID:9491003 | ICD10 ID:K14.4 | atrophic glossitis | Hunter's glossitis +BMGC_DS03737,BMG_DS005322,"Bleeding acute gastric ulcer | Gastric ulcer, unspecified | SNOMEDCT ID:155682002 | Acute gastric ulcer with bleeding | ICD11 ID:DA60.Z | UMLS ID:C0155967 | Acute gastric ulcer with hemorrhage | Acute gastric ulcer with haemorrhage (disorder) | ICD10 ID:K25.0 | Acute gastric ulcer with haemorrhage | Acute gastric ulcer with hemorrhage (disorder) | SNOMEDCT ID:89748001 | SNOMEDCT ID:196629007" +BMGC_DS03738,BMG_DS005324,"Perforated GU | Gastric ulcer, unspecified | Perforated GU (& [acute]) (disorder) | Acute gastric ulcer with perforation | SNOMEDCT ID:19850005 | Acute gastric ulcer with perforation (disorder) | GU - acute + perforation | ICD11 ID:DA60.Z | UMLS ID:C0155970 | SNOMEDCT ID:196630002 | Perforated GU (& [acute]) | ICD10 ID:K25.1 | SNOMEDCT ID:266499002" +BMGC_DS03739,BMG_DS005334,"ICD11 ID:DA62.Z | UMLS ID:C0156042 | Acute stomal ulcer with hemorrhage | Acute gastrojejunal ulcer with haemorrhage | SNOMEDCT ID:63954007 | Acute stomal ulcer with haemorrhage | Anastomotic ulcer, unspecified | gastrojejunal ulcer | ICD10 ID:K28.0 | DOID:10927 | SNOMEDCT ID:196709002 | Acute gastrojejunal ulcer with hemorrhage (disorder) | Acute gastrojejunal ulcer with hemorrhage" +BMGC_DS03740,BMG_DS005340,Alcoholic gastritis (disorder) | MONDO:0004640 | alcoholic gastritis | SNOMEDCT ID:155714000 | ICD11 ID:DA42.80 | DOID:8680 | Alcoholic gastritis | UMLS ID:C0156076 | ICD10 ID:K29.2 | SNOMEDCT ID:2043009 +BMGC_DS03741,BMG_DS005343,chronic duodenal ileus | MONDO:0001775 | Chronic duodenal ileus (disorder) | SNOMEDCT ID:52232007 | UMLS ID:C0156087 | Chronic duodenal ileus | DOID:13687 +BMGC_DS03742,BMG_DS005356,"Crohn disease of small intestine | gastroduodenal Crohn's disease | Regional enteritis of small intestine | Crohn's disease of small intestine (disorder) | Crohns disease, small intestine | MONDO:0005539 | RE - regional enteritis | small bowel Crohn disease | Crohn's regional enteritis | Regional ileitis of small intestine | ICD11 ID:DD70.1 | DOID:0060191;DOID:0060188 | Regional enteritis | Crohn's disease of small intestine | jejunoileitis | UMLS ID:C0156146 | ICD10 ID:K50.0 | Segmental ileitis of small intestine | SNOMEDCT ID:56689002 | Granulomatous enteritis" +BMGC_DS03743,BMG_DS005357,"Crohn disease of large bowel | MONDO:0005532 | Crohn's disease of large bowel (disorder) | Regional enteritis of the large bowel | SNOMEDCT ID:7620006 | Crohn's disease | Crohn's disease of large bowel | DOID:8778;DOID:0060192 | Crohn's colitis | Crohns disease, large intestine | UMLS ID:C0156147" +BMGC_DS03744,BMG_DS005362,"Functional diarrhea (disorder) | Functional diarrhea | UMLS ID:C0156173 | MONDO:0001272 | DOID:11371 | Functional diarrhoea | ICD10 ID:K59.1 | SNOMEDCT ID:47812002 | Functional gastrointestinal disorders, unspecified | ICD11 ID:DD9Z | functional diarrhea" +BMGC_DS03745,BMG_DS005365,MONDO:0001177 | UMLS ID:C0156183 | DOID:11014 | anorectal stricture +BMGC_DS03746,BMG_DS005366,UMLS ID:C0156185 | SNOMEDCT ID:197237004 | SNOMEDCT ID:24557004 | Abscess of intestine | ICD10 ID:K63.0 | Abscess of intestine (disorder) | ICD11 ID:ME24.0 | Digestive system abscess +BMGC_DS03747,BMG_DS005370,Chronic passive congestion of liver | Chronic passive congestion of liver (disorder) | ICD11 ID:DB98.8 | ICD11 ID:XT8W | nutmeg liver | Passive congestion of liver | MONDO:0001788 | DOID:13739 | SNOMEDCT ID:34736002 | Chronic | ICD10 ID:K76.1 | Nutmeg liver | UMLS ID:C0156195 +BMGC_DS03748,BMG_DS005377,SNOMEDCT ID:197415009 | ICD10 ID:K82.0 | occlusion of gallbladder | Obstruction of gallbladder | Obstruction of gall bladder | MONDO:0004858 | SNOMEDCT ID:75726005 | UMLS ID:C0156214 | ICD11 ID:DC10.01 | DOID:9714 | Obstruction of gallbladder (disorder) +BMGC_DS03749,BMG_DS005378,UMLS ID:C0156217 | ICD10 ID:K83 | Other diseases of biliary tract +BMGC_DS03750,BMG_DS005379,UMLS ID:C0156218 | MONDO:0001710 | perforation of bile duct | DOID:13409 +BMGC_DS03751,BMG_DS005383,MONDO:0002410 | (Pyeloureteritis cystica) or (ureteritis cystica) or (infestation of renal pelvis with ureter) | Pyeloureteritis cystica | pyeloureteritis cystica | Ureteritis cystica | Pyelitis cystica | ICD10 ID:N28.85 | UMLS ID:C0156254 | SNOMEDCT ID:37779008 | Pyeloureteritis cystica (disorder) | DOID:2743 | SNOMEDCT ID:197776002 | (Pyeloureteritis cystica) or (ureteritis cystica) or (infestation of renal pelvis with ureter) (disorder) | Infestation of renal pelvis with ureter | SNOMEDCT ID:266555009 | SNOMEDCT ID:155864003 +BMGC_DS03752,BMG_DS005384,SNOMEDCT ID:266622009 | Urinary calculus (& [kidney &/or ureter) (disorder) | SNOMEDCT ID:266556005 | Stone - kidney/ureter | Calculus of kidney and ureter (disorder) | SNOMEDCT ID:197792007 | ICD10 ID:N20 | Kidney/ureter calculus | Calculus of kidney and ureter | SNOMEDCT ID:197796005 | nephrolithiasis | Urinary calculus (& [kidney &/or ureter) | DOID:585 | Kidney calculus | Calculus kidney/ureter | Kidney stone | Urinary calculus | Urinary calculus (& [kidney &/or ureter]) | UMLS ID:C0156257 | Urinary calculus (& [kidney &/or ureter]) (disorder) | SNOMEDCT ID:155867005 | Calculus of kidney with calculus of ureter | Renal stone +BMGC_DS03753,BMG_DS005386,Hypertrophy of kidney (disorder) | Hypertrophy of kidney | UMLS ID:C0156259 | MONDO:0004841 | SNOMEDCT ID:88531004 | ICD10 ID:N28.81 | DOID:9622 | SNOMEDCT ID:197800004 | kidney hypertrophy +BMGC_DS03754,BMG_DS005387,stricture or kinking of ureter | UMLS ID:C0156261 | DOID:3508 +BMGC_DS03755,BMG_DS005388,lower urinary tract calculus | Calculus of lower urinary tract (disorder) | MONDO:0004828 | Calculus of lower urinary tract | SNOMEDCT ID:79509009 | Lower urinary tract calculus | ICD10 ID:N21 | DOID:9590 | UMLS ID:C0156264 +BMGC_DS03756,BMG_DS005389,DOID:11354 | SNOMEDCT ID:18109005 | Calculus of bladder diverticulum | Calculus in diverticulum of bladder | Diverticulum of bladder with calculus | Calculus in diverticulum of urinary bladder | Stone in bladder diverticulum | Calculus in diverticulum of urinary bladder (disorder) | MONDO:0001270 | stone in bladder diverticulum | UMLS ID:C0156265 +BMGC_DS03757,BMG_DS005391,Infectious cystitis | ICD11 ID:XT8W | SNOMEDCT ID:197839008 | Other chronic cystitis (disorder) | DOID:1680 | Other chronic cystitis | ICD11 ID:GC00.1 | UMLS ID:C0156268 | Chronic | chronic cystitis | ICD10 ID:N30.2 +BMGC_DS03758,BMG_DS005392,MONDO:0004112 | Irradiation cystitis | Cystitis caused by radiation (disorder) | Cystitis caused by radiation | UMLS ID:C0156270 | DOID:7127 | SNOMEDCT ID:11251000 | Radiation cystitis | radiation cystitis +BMGC_DS03759,BMG_DS005393,SNOMEDCT ID:197858004 | Other disorders of bladder | Other disorders of bladder (disorder) | ICD10 ID:N32 | UMLS ID:C0156271 +BMGC_DS03760,BMG_DS005394,bladder diverticulum | OMIM ID:109820 | DOID:11353 | UMLS ID:C0156273 | MONDO:0007197 +BMGC_DS03761,BMG_DS005395,ICD11 ID:GC02.0 | SNOMEDCT ID:67277002 | SNOMEDCT ID:197899005 | Urethral and periurethral abscess | Urethral abscess (disorder) | urethral gland abscess | Periurethral &/or urethral abscess | DOID:9877 | Periurethral &/or urethral abscess (disorder) | UMLS ID:C0156278 | Urethral abscess | ICD10 ID:N34.0 +BMGC_DS03762,BMG_DS005396,Urethral syndrome | SNOMEDCT ID:31273004 | DOID:13498 | UMLS ID:C0156279 | urethral syndrome | MONDO:0001730 | Urethral syndrome (disorder) +BMGC_DS03763,BMG_DS005397,infective urethral stricture | UMLS ID:C0156282 | DOID:13658 +BMGC_DS03764,BMG_DS005398,MONDO:0004760 | DOID:9339 | urethral false passage | UMLS ID:C0156286 +BMGC_DS03765,BMG_DS005401,ICD11 ID:GA91.2 | SNOMEDCT ID:67685000 | MONDO:0001506 | ICD10 ID:N41.3 | Prostatocystitis (disorder) | Prostatocystitis | DOID:12355 | UMLS ID:C0156291 | prostatocystitis +BMGC_DS03766,BMG_DS005404,DOID:2301 | atrophy of prostate | Atrophic prostate | UMLS ID:C0156296 | Prostate atrophy | Atrophy of prostate | SNOMEDCT ID:29524003 | Atrophy of prostate (disorder) +BMGC_DS03767,BMG_DS005409,SNOMEDCT ID:249242001 | ICD10 ID:N50.0 | SNOMEDCT ID:155938008 | ICD11 ID:GB03 | Testicular atrophy | UMLS ID:C0156312 | DOID:11994 | SNOMEDCT ID:17585008 | MONDO:0001415 | Atrophy of testis (disorder) | Atrophy of testis | Atrophic testicle | atrophy of testis +BMGC_DS03768,BMG_DS005411,Scrotal chylocele | chylocele of tunica vaginalis | SNOMEDCT ID:234107009 | Chylocele of tunica vaginalis (disorder) | SNOMEDCT ID:7864001 | UMLS ID:C0156315 | Chylocele of tunica vaginalis | Chylocele (disorder) | DOID:10835 | MONDO:0001136 | Chylocele | Chylocoele of tunica vaginalis +BMGC_DS03769,BMG_DS005412,UMLS ID:C0156316 | male genital organ stricture | DOID:12333 | MONDO:0001496 +BMGC_DS03770,BMG_DS005413,Fibrosclerosis of breast (disorder) | breast fibrosis | ICD10 ID:N60.3 | DOID:10353 | SNOMEDCT ID:29070004 | Fibrocystic change of breast | UMLS ID:C0156318 | Fibrosclerosis of breast | fibrosclerosis of breast | MONDO:0006118 | ICD11 ID:GB20.0 +BMGC_DS03771,BMG_DS005416,SNOMEDCT ID:21381006 | DOID:10691 | Fat necrosis of breast (disorder) | ICD10 ID:N64.1 | UMLS ID:C0156321 | MONDO:0001101 | fat necrosis of breast | ICD11 ID:GB23.2 | Fat necrosis of breast +BMGC_DS03772,BMG_DS005418,SNOMEDCT ID:198134002 | SNOMEDCT ID:155969007 | Acute salpingo-oophoritis | MONDO:0001171 | SNOMEDCT ID:266581008 | Acute salpingitis and oophoritis | acute salpingo-oophoritis | DOID:10971 | UMLS ID:C0156327 | Acute salpingo-oophoritis (disorder) +BMGC_DS03773,BMG_DS005419,chronic salpingo-oophoritis | SNOMEDCT ID:198142001 | DOID:12265 | Chronic salpingitis and oophoritis | Chronic salpingo-oophoritis | MONDO:0001474 | UMLS ID:C0156328 | Chronic salpingo-oophoritis (disorder) +BMGC_DS03774,BMG_DS005424,DOID:12566 | SNOMEDCT ID:198230004 | UMLS ID:C0156340 | Ulceration of vulva associated with another disorder (disorder) | ulceration of vulva | Ulceration of vulva associated with another disorder +BMGC_DS03775,BMG_DS005425,DOID:11432 | ICD11 ID:GA10.Z | ovarian endometriosis | Chocolate cyst of ovary | MONDO:0006337 | endometriosis of ovary | Endometriosis of ovary | Endometriosis of ovary (& [chocolate cyst]) (disorder) | Endometriosis of unspecified site | SNOMEDCT ID:266589005 | Endometriosis of ovary (disorder) | ICD10 ID:N80.1 | Endometriosis of ovary (& [chocolate cyst]) | SNOMEDCT ID:31007005 | SNOMEDCT ID:198250000 | UMLS ID:C0156344 +BMGC_DS03776,BMG_DS005426,MONDO:0001285 | UMLS ID:C0156345 | SNOMEDCT ID:198251001 | ICD10 ID:N80.3 | Endometriosis of pelvic peritoneum (disorder) | Endometriosis of pelvic peritoneum | DOID:11429 | endometriosis of pelvic peritoneum | ICD11 ID:GA10.C2 +BMGC_DS03777,BMG_DS005427,UMLS ID:C0156346 | Deep ovarian endometriosis | Endometriosis of rectovaginal septum and vagina | endometriosis of rectovaginal septum and vagina | ICD10 ID:N80.4 | ICD11 ID:GA10.B5 | MONDO:0001288 | DOID:11431 | Endometriosis of rectovaginal septum and vagina (disorder) | SNOMEDCT ID:198253003 +BMGC_DS03778,BMG_DS005428,endometriosis of intestine | Endometriosis of intestine | DOID:11428 | UMLS ID:C0156347 | MONDO:0001284 | ICD10 ID:N80.5 | SNOMEDCT ID:5562006 | ICD11 ID:GA10.C1 | Endometriosis of intestine (disorder) +BMGC_DS03779,BMG_DS005429,Endometriosis in scar of skin (disorder) | Endometriosis in scar of skin | SNOMEDCT ID:53913001 | MONDO:0001287 | endometriosis in cutaneous scar | endometriosis in scar of skin | Scar endometriosis | DOID:11430 | UMLS ID:C0156348 +BMGC_DS03780,BMG_DS005431,UMLS ID:C0156361 | corpus luteum cyst | DOID:13050 +BMGC_DS03781,BMG_DS005434,uterine polyp | MONDO:0004701 | DOID:9042 | UMLS ID:C0156369 | polyp of corpus uteri +BMGC_DS03782,BMG_DS005435,Chronic subinvolution of uterus (disorder) | chronic subinvolution of uterus | SNOMEDCT ID:198315005 | UMLS ID:C0156370 | SNOMEDCT ID:53518003 | DOID:13811 | MONDO:0001808 | Chronic subinvolution of uterus +BMGC_DS03783,BMG_DS005440,MONDO:0004679 | UMLS ID:C0156385 | leukoplakia of vagina | DOID:8920 +BMGC_DS03784,BMG_DS005442,"SNOMEDCT ID:198382004 | Noninflammatory disorders of female genital tract, unspecified | Atrophy of vulva (disorder) | ICD10 ID:N90.5 | Atrophy of vulva | ICD11 ID:GA1Z | Atrophic vulvitis | Atrophic vulva (disorder) | UMLS ID:C0156393 | SNOMEDCT ID:248861000 | atrophic vulva | Atrophic vulva | DOID:14275 | SNOMEDCT ID:82614005" +BMGC_DS03785,BMG_DS005447,SNOMEDCT ID:52441000 | Senile vaginitis | DOID:11968 | ICD10 ID:N95.2 | Atrophic vaginitis | postmenopausal atrophic vaginitis | UMLS ID:C0156409 | SNOMEDCT ID:156054004 | Atrophic vaginitis (disorder) | ICD11 ID:GA30.2 | Senile atrophic vaginitis | Postmenopausal atrophic vaginitis (disorder) | Postmenopausal atrophic vaginitis | MONDO:0001410 +BMGC_DS03786,BMG_DS005450,female infertility of uterine origin | MONDO:0001753 | UMLS ID:C0156416 | DOID:13589 +BMGC_DS03787,BMG_DS005457,UMLS ID:C0156543 | MONDO:0041526 | pregnancy disorder with abortive outcome +BMGC_DS03788,BMG_DS005460,UMLS ID:C0156617 | DOID:1677 | MONDO:0002077 | low implantation of placenta +BMGC_DS03789,BMG_DS005461,DOID:10590 | UMLS ID:C0156664 | mild pre-eclampsia +BMGC_DS03790,BMG_DS005462,UMLS ID:C0156669 | severe pre-eclampsia | DOID:13129 +BMGC_DS03791,BMG_DS005469,supine hypotensive syndrome | DOID:10556 | UMLS ID:C0157456 +BMGC_DS03792,BMG_DS005471,DOID:8512 | UMLS ID:C0157540 | MONDO:0004594 | puerperal pulmonary embolism +BMGC_DS03793,BMG_DS005487,Acute: [lymphadenitis] or [abscess lymph node] or [cervical adenitis] | Acute lymphadenitis (disorder) | Acute adenitis | Acute lymphadenitis | lymphadenitis | SNOMEDCT ID:200696002 | DOID:1602 | Acute abscess lymph node | Acute cervical adenitis | UMLS ID:C0157705 | Acute: [lymphadenitis] or [abscess lymph node] or [cervical adenitis] (disorder) | SNOMEDCT ID:41174002 | SNOMEDCT ID:156318008 | ICD10 ID:L04 +BMGC_DS03794,BMG_DS005491,SNOMEDCT ID:76092003 | cicatricial pemphigoid | UMLS ID:C0157721 | Benign mucous membrane pemphigoid with ocular involvement (disorder) | DOID:11656 | Benign mucous membrane pemphigoid with ocular involvement +BMGC_DS03795,BMG_DS005494,Chronic ulcer of skin | Chronic ulcer of skin (disorder) | Chronic skin ulcer | MONDO:0004605 | SNOMEDCT ID:156423009 | chronic ulcer of skin | Chronic skin ulcer (disorder) | SNOMEDCT ID:19429009 | DOID:8549 | UMLS ID:C0157738 +BMGC_DS03796,BMG_DS005496,UMLS ID:C0157743 | DOID:1554 | MeSH ID:D000094482 | Vibratory Urticaria | Chronic Inducible Urticaria | vibratory urticaria | MONDO:0006618 +BMGC_DS03797,BMG_DS005497,Arthropathy associated with infection | SNOMEDCT ID:371412008 | Arthropathy related to infection | Infectious arthropathy | Arthropathy related to infection (disorder) | Infection-associated arthritis | DOID:381 | SNOMEDCT ID:48548006 | SNOMEDCT ID:396233005 | Arthropathy associated with infection (disorder) | arthropathy | UMLS ID:C0157749 | SNOMEDCT ID:201455003 +BMGC_DS03798,BMG_DS005498,Arthropathy in Behcet's syndrome | UMLS ID:C0157770 | DOID:1670 | Behcet's syndrome arthropathy | SNOMEDCT ID:62918002 | Arthropathy in Behcet's syndrome (disorder) | Arthropathy in Behcet syndrome | MONDO:0002074 | Seronegative arthritis secondary to Behcet's syndrome | Behcet syndrome arthropathy +BMGC_DS03799,BMG_DS005500,DOID:813 | Infective arthritis of shoulder region | UMLS ID:C0157843 | Infective arthritis of shoulder region (disorder) | SNOMEDCT ID:428437005 | septic arthritis +BMGC_DS03800,BMG_DS005501,UMLS ID:C0157844 | septic arthritis | DOID:813 +BMGC_DS03801,BMG_DS005502,septic arthritis | UMLS ID:C0157845 | DOID:813 +BMGC_DS03802,BMG_DS005503,DOID:813 | septic arthritis | UMLS ID:C0157846 +BMGC_DS03803,BMG_DS005504,DOID:813 | septic arthritis | UMLS ID:C0157847 +BMGC_DS03804,BMG_DS005505,septic arthritis | UMLS ID:C0157848 | DOID:813 +BMGC_DS03805,BMG_DS005506,septic arthritis | UMLS ID:C0157849 | DOID:813 +BMGC_DS03806,BMG_DS005507,Chondrocalcinosis caused by dicalcium phosphate crystals | Chondrocalcinosis caused by dicalcium phosphate crystals (disorder) | Chondrocalcinosis due to dicalcium phosphate crystals | chondrocalcinosis | SNOMEDCT ID:201625003 | DOID:1156 | UMLS ID:C0157852 +BMGC_DS03807,BMG_DS005510,Acute polyarticular juvenile rheumatoid arthritis | SNOMEDCT ID:75822003 | Polyarticular juvenile rheumatoid arthritis | UMLS ID:C0157916 | SNOMEDCT ID:16024431000119108 | Acute polyarticular juvenile idiopathic arthritis | juvenile rheumatoid arthritis | Acute polyarticular juvenile idiopathic arthritis (disorder) | SNOMEDCT ID:201798003 | DOID:676 | Acute polyarticular juvenile rheumatoid arthritis (disorder) | Acute juvenile rheumatoid arthritis +BMGC_DS03808,BMG_DS005511,ICD10 ID:M08.4 | Pauciarticular onset juvenile chronic arthritis | Pauciarticular juvenile rheumatoid arthritis (disorder) | UMLS ID:C0157917 | Pauciarticular juvenile rheumatoid arthritis | SNOMEDCT ID:74391003 | juvenile rheumatoid arthritis | Juvenile idiopathic polyarthritis | JCA - Pauciarticular onset juvenile chronic arthritis | DOID:676 | ICD11 ID:FA24.1 | Pauciarticular onset juvenile arthritis +BMGC_DS03809,BMG_DS005512,Monarticular juvenile rheumatoid arthritis | SNOMEDCT ID:83793004 | UMLS ID:C0157918 | DOID:676 | SNOMEDCT ID:201799006 | Monarticular juvenile rheumatoid arthritis (disorder) | Monoarticular juvenile rheumatoid arthritis | juvenile rheumatoid arthritis | Monoarticular juvenile rheumatoid arthritis (disorder) +BMGC_DS03810,BMG_DS005515,DOID:8398 | osteoarthritis | UMLS ID:C0157946 +BMGC_DS03811,BMG_DS005521,SNOMEDCT ID:201988000 | Transient arthropathy of shoulder region | Transient arthropathy of shoulder region (disorder) | transient arthropathy | DOID:12084 | Transient arthropathy of the shoulder region | UMLS ID:C0158007 +BMGC_DS03812,BMG_DS005524,SNOMEDCT ID:287014004 | Disorder of articular cartilage | SNOMEDCT ID:268062001 | UMLS ID:C0158073 | Cartilage disorder (& [articular]) | Cartilage disorder (& [articular]) (disorder) | SNOMEDCT ID:53417006 | Articular cartilage disease | articular cartilage disorder | articular cartilage disease | MONDO:0003816 | Articular cartilage disorder | DOID:6227 | Articular cartilage disorder (disorder) | Cartilage disorder +BMGC_DS03813,BMG_DS005529,UMLS ID:C0158157 | DOID:528 | hydrarthrosis +BMGC_DS03814,BMG_DS005532,SNOMEDCT ID:34671005 | villonodular synovitis | DOID:9898 | SNOMEDCT ID:95411002 | Villonodular synovitis | Villonodular synovitis (disorder) | UMLS ID:C0158168 +BMGC_DS03815,BMG_DS005533,DOID:1166 | palindromic rheumatism | UMLS ID:C0158178 +BMGC_DS03816,BMG_DS005546,SNOMEDCT ID:202681007 | SNOMEDCT ID:82304009 | Localized idiopathic skeletal hyperostosis (& [kissing spine] or [Baastrup's syndrome]) | Localized idiopathic skeletal hyperostosis | Osteoarthrosis interspinalis | Localised idiopathic skeletal hyperostosis (& [kissing spine] or [Baastrup's syndrome]) | ICD10 ID:M48.2 | Kissing spine (disorder) | UMLS ID:C0158248 | Overriding of dorsal spinous processes | Baastrup syndrome | DOID:6643 | MONDO:0003956 | Baastrup's syndrome | ICD11 ID:FA72.1 | Kissing spine | Localised idiopathic skeletal hyperostosis (& [kissing spine] or [Baastrup's syndrome]) (disorder) | Localised idiopathic skeletal hyperostosis +BMGC_DS03817,BMG_DS005547,UMLS ID:C0158252 | SNOMEDCT ID:36427004 | Intervertebral disc disorder | lumbar disk degenerative disorder | Intervertebral disc disorder (disorder) | MONDO:0044339 | Disorder of intervertebral disc +BMGC_DS03818,BMG_DS005554,Intervertebral Disc Degeneration | MeSH ID:D055959 | UMLS ID:C0158266 | OMIM ID:603932 | intervertebral disk degenerative disorder | MONDO:0011385 +BMGC_DS03819,BMG_DS005568,SNOMEDCT ID:202809009 | Hypermobility of coccyx (finding) | UMLS ID:C0158295 | Hypermobility of the coccyx | MONDO:0001546 | Hypermobility of coccyx | DOID:12537 | hypermobility of coccyx +BMGC_DS03820,BMG_DS005571,UMLS ID:C0158300 | Adhesive Capsulitis | MeSH ID:D002062 | Bursitis +BMGC_DS03821,BMG_DS005572,Calcific tendinitis of shoulder (disorder) | calcific tendinitis | DOID:14181 | UMLS ID:C0158303 | SNOMEDCT ID:239957000 | SNOMEDCT ID:27741009 | Calcifying tendinitis of the shoulder | Calcific tendinitis | ICD10 ID:M75.3 | ICD11 ID:FB40.3 | Calcifying tendinitis of shoulder | Calcific tendonitis of shoulder | Calcific tendinitis of shoulder +BMGC_DS03822,BMG_DS005573,UMLS ID:C0158304 | DOID:14192 | Bicipital tenosynovitis | SNOMEDCT ID:41137001 | MONDO:0001905 | bicipital tenosynovitis | Bicipital tenosynovitis (disorder) | SNOMEDCT ID:202840002 +BMGC_DS03823,BMG_DS005577,UMLS ID:C0158314 | DOID:12475 | pes anserinus tendinitis or bursitis +BMGC_DS03824,BMG_DS005578,Pellegrini - Stieda syndrome | SNOMEDCT ID:44245003 | (Tibial collateral ligament bursitis) or (Pellegrini-Stieda syndrome) | tibial collateral ligament bursitis | Tibial collateral ligament bursitis (disorder) | (Tibial collateral ligament bursitis) or (Pellegrini-Stieda syndrome) (disorder) | MONDO:0001747 | Tibial collateral ligament bursitis | SNOMEDCT ID:202869006 | DOID:13566 | UMLS ID:C0158315 +BMGC_DS03825,BMG_DS005579,SNOMEDCT ID:77323000 | UMLS ID:C0158316 | Inflammation of subtendinous bursa of biceps femoris inferior muscle | fibular collateral ligament bursitis | Fibular collateral ligament bursitis | MONDO:0004764 | Inflammation of subtendinous bursa of biceps femoris inferior muscle (disorder) | DOID:9358 +BMGC_DS03826,BMG_DS005580,Pellegrini - Stieda syndrome | Tendinitis of patellar tendon (disorder) | SNOMEDCT ID:268089006 | DOID:10471 | SNOMEDCT ID:37785001 | Tendinitis of patellar tendon | Patellar tendonitis | Pellegrini-Stieda syndrome | UMLS ID:C0158317 | SNOMEDCT ID:156662006 | (Patellar tendinitis) or (Pellegrini-Stieda syndrome) (disorder) | patellar tendinitis | (Patellar tendinitis) or (Pellegrini-Stieda syndrome) | Patellar tendinitis | MONDO:0001042 +BMGC_DS03827,BMG_DS005582,Tibialis tendinitis | DOID:10810 | Tibialis tendinitis (disorder) | SNOMEDCT ID:50127006 | Tibialis tendonitis | tibialis tendinitis | MONDO:0001127 | UMLS ID:C0158321 +BMGC_DS03828,BMG_DS005583,heel spur | Heel Spur | DOID:210 | UMLS ID:C0158322 | MONDO:0002209 | MeSH ID:D036982 +BMGC_DS03829,BMG_DS005588,UMLS ID:C0158331 | tenosynovitis of foot and ankle | DOID:312 | MONDO:0002517 +BMGC_DS03830,BMG_DS005589,UMLS ID:C0158332 | specific bursitis often of occupational origin | SNOMEDCT ID:42812006 | Specific bursitis often of occupational origin (disorder) | Specific bursitis often of occupational origin | DOID:12223 +BMGC_DS03831,BMG_DS005591,DOID:9754 | UMLS ID:C0158336 | ganglion or cyst of synovium/tendon/bursa +BMGC_DS03832,BMG_DS005595,infectious myositis | UMLS ID:C0158353 | Infectious Myositis | MeSH ID:D009220 | MONDO:0023483 | Myositis +BMGC_DS03833,BMG_DS005596,plantar fibromatosis | MONDO:0004684 | UMLS ID:C0158360 | plantar fascial fibromatosis | DOID:8936 +BMGC_DS03834,BMG_DS005597,"SNOMEDCT ID:55925001 | UMLS ID:C0158362 | myositis fibrosa | Interstitial myositis (disorder) | ICD10 ID:M60.1 | Myositis fibrosa | Interstitial myositis | Disorders of muscles, unspecified | ICD11 ID:FB3Z | MONDO:0004881 | DOID:9788" +BMGC_DS03835,BMG_DS005599,Acute osteomyelitis | Acute bone infection | (Bone: [abscess] or [acute infection]) or (acute osteomyelitis) | UMLS ID:C0158371 | Bone abscess | (Bone: [abscess] or [acute infection]) or (acute osteomyelitis) (disorder) | SNOMEDCT ID:156781009 | SNOMEDCT ID:68231009 | SNOMEDCT ID:409780002 | Acute osteomyelitis (disorder) | SNOMEDCT ID:203146003 +BMGC_DS03836,BMG_DS005605,Juvenile osteochondrosis of upper extremity (disorder) | Juvenile osteochondrosis of upper limb | DOID:10159 | Juvenile osteochondrosis of upper extremity | osteonecrosis | SNOMEDCT ID:62100001 | UMLS ID:C0158442 +BMGC_DS03837,BMG_DS005607,"Kohler's disease | Juvenile osteochondrosis of foot | osteochondritis of tarsal/metatarsal bone | SNOMEDCT ID:32491009 | Juvenile osteochondrosis of foot, NOS | MONDO:0016086 | Juvenile osteochondrosis of foot (disorder) | DOID:11760 | UMLS ID:C0158444" +BMGC_DS03838,BMG_DS005608,ICD10 ID:M92 | UMLS ID:C0158445 | osteochondrosis | DOID:8125 | Other juvenile osteochondrosis +BMGC_DS03839,BMG_DS005609,Idiopathic osteoporosis (disorder) | idiopathic juvenile osteoporosis | UMLS ID:C0158447 | SNOMEDCT ID:3345002 | DOID:12559 | Idiopathic osteoporosis +BMGC_DS03840,BMG_DS005610,osteonecrosis | UMLS ID:C0158449 | DOID:10159 +BMGC_DS03841,BMG_DS005611,Aseptic necrosis of medial femoral condyle | DOID:10159 | Avascular necrosis of medial femoral condyle (disorder) | UMLS ID:C0158450 | Osteonecrosis of medial femoral condyle | osteonecrosis | Avascular necrosis of medial femoral condyle | SNOMEDCT ID:268030004 +BMGC_DS03842,BMG_DS005612,UMLS ID:C0158451 | DOID:10159 | osteonecrosis +BMGC_DS03843,BMG_DS005622,DOID:2490 | UMLS ID:C0158538 | congenital nervous system abnormality +BMGC_DS03844,BMG_DS005623,UMLS ID:C0158543 | congenital cystic eye | MONDO:0022825 +BMGC_DS03845,BMG_DS005626,vascular malformation | UMLS ID:C0158570 | MONDO:0024291 +BMGC_DS03846,BMG_DS005631,UMLS ID:C0158619 | mitral valve insufficiency | Congenital insufficiency of mitral valve | Congenital insufficiency of mitral valve (disorder) | DOID:11502 | Congenital mitral insufficiency | congenital mitral valve insufficiency | MONDO:0001298 | Congenital mitral regurgitation | SNOMEDCT ID:29928006 +BMGC_DS03847,BMG_DS005632,coronary artery anomaly | DOID:11843 | MONDO:0001389 | UMLS ID:C0158623 | congenital coronary artery anomaly +BMGC_DS03848,BMG_DS005634,UMLS ID:C0158646 | cleft lip/palate | MONDO:0016044 +BMGC_DS03849,BMG_DS005635,DOID:9296 | UMLS ID:C0158651 | cleft lip +BMGC_DS03850,BMG_DS005636,MONDO:0008397 | DOID:0111549 | aplasia of lacrimal and salivary glands | OMIM ID:180920 | UMLS ID:C0158667 +BMGC_DS03851,BMG_DS005637,MONDO:0001562 | DOID:12641 | displacement of cardia through esophageal hiatus | UMLS ID:C0158674 +BMGC_DS03852,BMG_DS005638,Congenital polycystic liver disease | MeSH ID:C536330 | DOID:0050770 | Cystic disease of liver | Congenital polycystic disease of liver | OMIM ID:MTHU014343 | Fibrocystic liver disease | MONDO:0000447 | PLD - Polycystic liver disease | Congenital cystic disease of liver (disorder) | UMLS ID:C0158683 | Fibrocystic disease of liver | Polycystic liver disease | SNOMEDCT ID:72925005 | autosomal dominant polycystic liver disease | Congenital hepatic cyst | Congenital cystic liver | polycystic liver disease | Congenital cystic disease of liver +BMGC_DS03853,BMG_DS005639,UMLS ID:C0158761 | DOID:9827 | congenital radioulnar synostosis | radioulnar synostosis | MONDO:0017985 +BMGC_DS03854,BMG_DS005641,UMLS ID:C0158779 | MONDO:0007303 | cervical rib disease | OMIM ID:117900 +BMGC_DS03855,BMG_DS005643,Fetal Nutrition Disorders | UMLS ID:C0158850 | Fetal Malnutrition | MeSH ID:D048070 +BMGC_DS03856,BMG_DS005652,Cytomegalovirus Infections | MeSH ID:D003586 | Congenital Cytomegalovirus Infection | UMLS ID:C0158945 +BMGC_DS03857,BMG_DS005653,UMLS ID:C0158947 | Infection of navel cord | SNOMEDCT ID:206340009 | SNOMEDCT ID:42052009 | Umbilical stump infection of the newborn (& [omphalitis]) | Umbilical stump infection of the newborn | Omphalitis of the newborn | Umbilical infection of newborn | Omphalitis of newborn | Umbilical stump infection of newborn | Omphalitis of newborn (disorder) | Umbilical stump infection of the newborn (& [omphalitis]) (disorder) +BMGC_DS03858,BMG_DS005654,DOID:13520 | ICD10 ID:P39.0 | Neonatal infective mastitis | ICD11 ID:KA65.3 | UMLS ID:C0158948 | Neonatal infectious mastitis | MONDO:0001736 | Neonatal infective mastitis (disorder) | neonatal infective mastitis | SNOMEDCT ID:3468005 +BMGC_DS03859,BMG_DS005655,Anemia due to Rh isoimmunization | Hemolytic disease due to Rh isoimmunization | Rh haemolytic disease of the newborn | Haemolytic disease of foetus OR newborn due to RhD isoimmunisation | Jaundice due to Rh isoimmunisation of the newborn | Haemolytic disease due to rhesus isoimmunisation | Hemolytic disease of fetus OR newborn due to RhD isoimmunization (disorder) | Hemolytic disease - Rh | Haemolytic disease of foetus OR newborn due to Rh isoimmunisation | Jaundice due to Rh isoimmunization of the newborn | Rhesus isoimmunization of the newborn | Hemolytic disease due to rhesus isoimmunization | Rh hemolytic disease of the newborn | Rh HDN - Rh hemolytic disease of the newborn | UMLS ID:C0158962 | Haemolytic disease of fetus OR newborn due to RhD isoimmunisation | SNOMEDCT ID:86986002 | Haemolytic disease - Rh | Rhesus isoimmunisation of the newborn | Erythroblastosis fetalis due to Rh isoimmunization | Erythroblastosis foetalis due to Rh isoimmunisation | Rh HDN - Rh haemolytic disease of the newborn | Anaemia due to Rh isoimmunisation | Haemolytic disease of fetus OR newborn due to Rh isoimmunisation | Haemolytic disease due to Rh isoimmunisation | Hemolytic disease of fetus OR newborn due to Rh isoimmunization | Hemolytic disease of fetus OR newborn due to RhD isoimmunization | Rh isoimmunization of the newborn | Rh isoimmunisation of the newborn | Erythroblastosis fetalis due to Rh isoimmunisation +BMGC_DS03860,BMG_DS005657,MONDO:0006595 | SNOMEDCT ID:206463003 | SNOMEDCT ID:10877007 | Perinatal jaundice due to hepatocellular damage | perinatal jaundice due to hepatocellular damage | Perinatal jaundice due to hepatocellular damage (finding) | DOID:11452 | UMLS ID:C0158976 +BMGC_DS03861,BMG_DS005658,"Neonatal diabetes mellitus | neonatal diabetes | neonatal diabetes mellitus | ICD10 ID:P70.2 | SNOMEDCT ID:49817004 | OMIM ID:MTHU046151 | transient neonatal diabetes mellitus | UMLS ID:C0158981 | ICD11 ID:KB60.2Z | DOID:11717;DOID:0060334 | Neonatal diabetes mellitus, unspecified | Neonatal diabetes mellitus (disorder) | MONDO:0016391" +BMGC_DS03862,BMG_DS005659,"MeSH ID:D020941 | DOID:14043 | MONDO:0006866 | Neonatal Myasthenia Gravis | neonatal myasthenia gravis | Myasthenia Gravis, Neonatal | UMLS ID:C0158982" +BMGC_DS03863,BMG_DS005660,ICD10 ID:P72.1 | UMLS ID:C0158983 | MONDO:0001555 | SNOMEDCT ID:13795004 | DOID:12573 | neonatal thyrotoxicosis | Transitory neonatal hyperthyroidism | Neonatal thyrotoxicosis | Neonatal thyrotoxicosis (disorder) | ICD11 ID:KB62.0 +BMGC_DS03864,BMG_DS005662,Neonatal hypoglycaemia | UMLS ID:C0158986 | Neonatal hypoglycemia | Neonatal hypoglycaemia (disorder) | Neonatal hypoglycemia (disorder) | OMIM ID:MTHU037871 | SNOMEDCT ID:52767006 | SNOMEDCT ID:157147000 +BMGC_DS03865,BMG_DS005664,MONDO:0004877 | transient neonatal thrombocytopenia | UMLS ID:C0158991 | DOID:9771 +BMGC_DS03866,BMG_DS005665,disseminated intravascular coagulation in newborn | UMLS ID:C0158992 | Newborn disseminated intravascular coagulation | MONDO:0001242 | Newborn defibrination syndrome | DOID:11246 | Disseminated intravascular coagulation in newborn | DIC in newborn | Disseminated intravascular coagulation in newborn (disorder) | SNOMEDCT ID:34417008 +BMGC_DS03867,BMG_DS005668,Anemia of prematurity | Anemia of prematurity (disorder) | UMLS ID:C0158996 | Anaemia of prematurity | DOID:11243 | ICD11 ID:KA8B | anemia of prematurity | SNOMEDCT ID:47100003 | ICD10 ID:P61.2 | MONDO:0001239 +BMGC_DS03868,BMG_DS005669,Transient neonatal neutropenia | DOID:11245 | SNOMEDCT ID:55444004 | transient neonatal neutropenia | MONDO:0001241 | Transient neonatal neutropenia (disorder) | UMLS ID:C0158997 +BMGC_DS03869,BMG_DS005671,"SNOMEDCT ID:206526009 | Postnatal intestinal perforation, unspecified | UMLS ID:C0159006 | ICD10 ID:P78.0 | MONDO:0002196 | SNOMEDCT ID:65390006 | ICD11 ID:KB86.Z | Perinatal intestinal perforation | DOID:2073 | Perinatal intestinal perforation (disorder) | perinatal intestinal perforation | Perinatal intestinal perforation (finding)" +BMGC_DS03870,BMG_DS005675,SNOMEDCT ID:87476004 | Neonatal seizure (finding) | Convulsions in the newborn | Neonatal seizure | UMLS ID:C0159020 +BMGC_DS03871,BMG_DS005688,Conjunctival deposit (disorder) | SNOMEDCT ID:62660000 | UMLS ID:C0162280 | conjunctival deposit | Conjunctival deposits | Conjunctival deposit | DOID:11653 | MONDO:0001331 +BMGC_DS03872,BMG_DS005689,corneal deposit | DOID:11547 | UMLS ID:C0162281 | MONDO:0001308 | Corneal deposit (disorder) | SNOMEDCT ID:74460005 | Corneal deposit +BMGC_DS03873,BMG_DS005690,"UMLS ID:C0162283 | nephrogenic diabetes insipidus | Nephrogenic Diabetes Insipidus | Diabetes Insipidus, Nephrogenic | DOID:12387 | MeSH ID:D018500 | MONDO:0016383" +BMGC_DS03874,BMG_DS005691,MONDO:0001538 | retinal ischemia | DOID:12510 | UMLS ID:C0162291 +BMGC_DS03875,BMG_DS005692,UMLS ID:C0162292 | Ophthalmoplegia | External Ophthalmoplegia | MeSH ID:D009886 +BMGC_DS03876,BMG_DS005693,Polyarthralgia | Pain of multiple joints (finding) | Multiple joint pain | Arthralgia of multiple joints | Pain of multiple joints | Joint unstable | Arthralgia | (Joint: [disorder NOS] or [unstable]) or (polyarthralgia) (disorder) | Unstable joint | Joint disorder NOS | (Joint: [disorder NOS] or [unstable]) or (polyarthralgia) (finding) | SNOMEDCT ID:156616003 | UMLS ID:C0162296 | (Joint: [disorder NOS] or [unstable]) or (polyarthralgia) | SNOMEDCT ID:35678005 | MeSH ID:D018771 | SNOMEDCT ID:268070006 +BMGC_DS03877,BMG_DS005694,MONDO:0004826 | Calculus in urethra (disorder) | Urethral calculus | ICD11 ID:GB71.1 | ICD10 ID:N21.1 | DOID:9589 | Urethral stone | Calculus in urethra | urethral calculus | UMLS ID:C0162301 | SNOMEDCT ID:20342001 +BMGC_DS03878,BMG_DS005695,DOID:10588 | Adrenoleucodystrophy | X-linked adrenoleucodystrophy | OMIM ID:300100 | Siemerling-Creutzfeldt disease | MeSH ID:D000326 | X-linked adrenoleukodystrophy | Adrenoleukodystrophy (disorder) | ALD - adrenoleukodystrophy | adrenoleukodystrophy | UMLS ID:C0162309 | Schilder-Addison complex | MONDO:0018544 | SNOMEDCT ID:65389002 | Bronze Schilder disease | Adrenoleukodystrophy +BMGC_DS03879,BMG_DS005696,MONDO:0005339 | Alopecia | MeSH ID:D000505 | UMLS ID:C0162311 | androgenetic alopecia | Androgenetic Alopecia +BMGC_DS03880,BMG_DS005697,ICD10 ID:D50 | Kelly-Paterson syndrome | Chlorotic anemia | Plummer-Vinson syndrome | Anaemia - iron defic. | SNOMEDCT ID:87522002 | (Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | Asiderotic anemia | Iron deficiency anemia (disorder) | Iron deficiency anemia syndrome | (Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) (disorder) | Sideropenic anemia | Asiderotic anaemia | Chlorotic anaemia | Iron deficiency anaemias | IDA - Iron deficiency anaemia | OMIM ID:MTHU036458 | Iron deficiency anaemia syndrome | (Anemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | MONDO:0001356 | Microcytic anaemia | IDA - Iron deficiency anemia | Plummer-Vinson syndr. | Iron deficiency anaemia | Sideropenic anaemia | SNOMEDCT ID:267553005 | UMLS ID:C0162316 | iron deficiency anemia | Microcytic anemia | Iron deficiency anemia | Kelly-Paterson synd. | Iron deficiency anemias | SNOMEDCT ID:154787005 | Anemia - iron defic. +BMGC_DS03881,BMG_DS005698,MONDO:0024280 | OMIM ID:MTHU041499 | UMLS ID:C0162323 | SNOMEDCT ID:30701005 | SNOMEDCT ID:41397009 | SNOMEDCT ID:416956002 | polyarticular arthritis | Inflammatory polyarthropathy | (Unspecified polyarthropathy or polyarthritis NOS) or (polyarthritis) (disorder) | Inflammatory polyarthropathy (disorder) | (Unspecified polyarthropathy or polyarthritis NOS) or (polyarthritis) | Undifferentiated inflammatory polyarthritis (disorder) | Arthritis | Polyarthritis (disorder) | Inflammatory polyarthritis | Polyarthritis | Unspecified polyarthropathy or polyarthritis NOS | SNOMEDCT ID:202032009 | MeSH ID:D001168 | Undifferentiated inflammatory polyarthritis +BMGC_DS03882,BMG_DS005699,UMLS ID:C0162359 | SNOMEDCT ID:4826006 | Hypohidrotic X-linked ectodermal dysplasia (disorder) | CST - Christ-Siemens-Touraine syndrome | Hypohidrotic ectodermal dysplasia syndrome (disorder) | MONDO:0010585 | ectodermal dysplasia 1 | Christ-Siemens-Touraine syndrome | SNOMEDCT ID:239007005 | X-linked hypohidrotic ectodermal dysplasia | Hypohidrotic X-linked ectodermal dysplasia | OMIM ID:305100 | hypohidrotic ectodermal dysplasia | DOID:0111664;DOID:14793 | Hypohidrotic ectodermal dysplasia syndrome +BMGC_DS03883,BMG_DS005700,DOID:14693 | UMLS ID:C0162361 | OMIM ID:129500 | Clouston syndrome | MeSH ID:D004476 | Hidrotic Ectodermal Dysplasia | Ectodermal Dysplasia | MONDO:0007510 +BMGC_DS03884,BMG_DS005701,"MeSH ID:D006101 | Granuloma, Giant Cell | Granuloma, Giant Cell Reparative | UMLS ID:C0162375 | DOID:1866 | giant cell reparative granuloma | MONDO:0006770" +BMGC_DS03885,BMG_DS005702,MONDO:0006581 | UMLS ID:C0162423 | DOID:11153 | Miliaria Rubra | MeSH ID:D008883 | miliaria rubra | Miliaria +BMGC_DS03886,BMG_DS005703,MeSH ID:D044342 | Nutritional disorder (disorder) | UMLS ID:C0162429 | SNOMEDCT ID:2492009 | Nutritional disorder | Nutritional disease | OMIM ID:MTHU026060 | Disorder of nutrition | Malnutrition +BMGC_DS03887,BMG_DS005704,Parapsoriasis | MeSH ID:D010267 | UMLS ID:C0162442 | Parapsoriasis en Plaques +BMGC_DS03888,BMG_DS005707,uterine inversion | MONDO:0004936 | DOID:997 | UMLS ID:C0162482 +BMGC_DS03889,BMG_DS005712,DOID:0050876 | MONDO:0010913 | Caroli disease | OMIM ID:600643 | Caroli Disease | UMLS ID:C0162510 | MeSH ID:D016767 +BMGC_DS03890,BMG_DS005713,MeSH ID:D017088 | AIDS-Related Opportunistic Infections | UMLS ID:C0162526 +BMGC_DS03891,BMG_DS005714,"ischemic colitis | UMLS ID:C0162529 | DOID:0060181 | MeSH ID:D017091 | MONDO:0000701 | Colitis, Ischemic" +BMGC_DS03892,BMG_DS005715,UMLS ID:C0162530 | DOID:13271 | cutaneous porphyria +BMGC_DS03893,BMG_DS005716,"DOID:13269 | Hereditary Coproporphyria | hereditary coproporphyria | OMIM ID:121300 | UMLS ID:C0162531 | Coproporphyria, Hereditary | MeSH ID:D046349 | MONDO:0007369" +BMGC_DS03894,BMG_DS005717,"variegate porphyria | Variegate Porphyria | DOID:4346 | MONDO:0008297 | MeSH ID:D046350 | UMLS ID:C0162532 | OMIM ID:176200 | Porphyria, Variegate" +BMGC_DS03895,BMG_DS005718,"MeSH ID:D017094 | DOID:3133 | UMLS ID:C0162533 | hepatic porphyria | Porphyrias, Hepatic | MONDO:0002520 | acute porphyria" +BMGC_DS03896,BMG_DS005719,Prion Diseases | MeSH ID:D017096 | prion disease | UMLS ID:C0162534 | DOID:649 | MONDO:0005429 +BMGC_DS03897,BMG_DS005720,SNOMEDCT ID:29260007 | selective IgA deficiency disease | UMLS ID:C0162538 | IgA deficiency | immunoglobulin alpha deficiency | Immunoglobulin A deficiency | DOID:0060025;DOID:11701 | Immunoglobulin A deficiency (disorder) +BMGC_DS03898,BMG_DS005721,Immunoglobulin G deficiency (disorder) | SNOMEDCT ID:12631000119106 | selective IgG deficiency disease | UMLS ID:C0162539 | selective IgG subclass deficiency | MONDO:0001901 | Immunoglobulin G deficiency | DOID:14176 +BMGC_DS03899,BMG_DS005722,"Akathisia, Tardive | UMLS ID:C0162549 | MeSH ID:D017109 | Akathisia, Drug-Induced" +BMGC_DS03900,BMG_DS005723,"Akathisia, Drug-Induced | MeSH ID:D017109 | drug-induced akathisia | UMLS ID:C0162550 | MONDO:0006731" +BMGC_DS03901,BMG_DS005724,"Liver Failure, Acute | MONDO:0019542 | acute liver failure | MeSH ID:D017114 | UMLS ID:C0162557" +BMGC_DS03902,BMG_DS005725,UMLS ID:C0162565 | Intermittent acute porphyria | Intermittent acute porphyria syndrome | AIP - Acute intermittent porphyria | OMIM ID:176000 | DOID:3890 | Swedish porphyria | SNOMEDCT ID:234422006 | SNOMEDCT ID:190914003 | Acute intermittent porphyria (disorder) | Pyrroloporphyria | Acute porphyria | Acute intermittent porphyria | MONDO:0008294 | acute intermittent porphyria | SNOMEDCT ID:90842001 +BMGC_DS03903,BMG_DS005726,porphyria cutanea tarda | UMLS ID:C0162566 | MeSH ID:D017119 | MONDO:0015104 | DOID:3132 | Porphyria Cutanea Tarda +BMGC_DS03904,BMG_DS005727,"DOID:13270 | MONDO:0001676 | UMLS ID:C0162568 | MeSH ID:D046351 | Protoporphyria, Erythropoietic | erythropoietic protoporphyria | Erythropoietic Protoporphyria" +BMGC_DS03905,BMG_DS005728,"DOID:5230 | MONDO:0019799 | UMLS ID:C0162569 | MeSH ID:D017121 | Porphyria, Hepatoerythropoietic | Hepatoerythropoietic Porphyria | hepatoerythropoietic porphyria" +BMGC_DS03906,BMG_DS005729,Infection by Anisakis larva (disorder) | MONDO:0015200 | Infection caused by Anisakis larva | DOID:7033 | Herring worm disease | Infection by Anisakis larva | SNOMEDCT ID:32183007 | Anisakiasis (disorder) | MeSH ID:D017129 | ICD11 ID:1F61 | Herringworm disease | Anisakiasis | Anisakiosis | Infection caused by Anisakis larva (disorder) | ICD10 ID:B81.0 | SNOMEDCT ID:187173002 | UMLS ID:C0162576 | SNOMEDCT ID:442652006 | anisakiasis +BMGC_DS03907,BMG_DS005734,"MeSH ID:D017192 | Skin Diseases, Bacterial | UMLS ID:C0162627 | MONDO:0024295 | skin disease caused by bacterial infection" +BMGC_DS03908,BMG_DS005735,"MeSH ID:D017193 | Skin Diseases, Viral | UMLS ID:C0162628" +BMGC_DS03909,BMG_DS005736,Oxyurida Infections | MeSH ID:D017194 | UMLS ID:C0162629 +BMGC_DS03910,BMG_DS005738,OMIM ID:105830 | Angelman syndrome | DOID:1932 | MeSH ID:D017204 | Angelman Syndrome | MONDO:0007113 | UMLS ID:C0162635 +BMGC_DS03911,BMG_DS005741,MONDO:0006957 | root caries | Root Caries | UMLS ID:C0162644 | DOID:14089 | MeSH ID:D017213 +BMGC_DS03912,BMG_DS005742,Gastric outflow obstruction | (Adult hypertrophic pyloric stenosis) or (gastric outlet obstruction) (disorder) | Adult hypertrophic pyloric stenosis | DOID:3122 | UMLS ID:C0162651 | gastric outlet obstruction | (Adult hypertrophic pyloric stenosis) or (gastric outlet obstruction) | Gastric outlet obstruction | SNOMEDCT ID:196759006 +BMGC_DS03913,BMG_DS005743,MeSH ID:D017237 | UMLS ID:C0162666 | mitochondrial encephalomyopathy | MONDO:0004675 | Mitochondrial Encephalomyopathies | DOID:890 +BMGC_DS03914,BMG_DS005744,Megaconial Myopathies | UMLS ID:C0162668 | MeSH ID:D017240 | Mitochondrial Myopathies +BMGC_DS03915,BMG_DS005745,UMLS ID:C0162669 | Pleoconial Myopathies | MeSH ID:D017240 | Mitochondrial Myopathies +BMGC_DS03916,BMG_DS005746,UMLS ID:C0162670 | mitochondrial myopathy | MeSH ID:D017240 | Mitochondrial Myopathies | DOID:699 | MONDO:0009637 | inborn mitochondrial myopathy +BMGC_DS03917,BMG_DS005747,UMLS ID:C0162671 | MeSH ID:D017241 | OMIM ID:540000 | MONDO:0010789 | MELAS syndrome | MELAS Syndrome | DOID:3687 +BMGC_DS03918,BMG_DS005748,UMLS ID:C0162672 | MeSH ID:D017243 | OMIM ID:545000 | MERRF syndrome | MERRF Syndrome | DOID:310 | MONDO:0010790 +BMGC_DS03919,BMG_DS005749,PEO - Progressive external ophthalmoplegia | chronic progressive external ophthalmoplegia | Progressive external ophthalmoplegia | CPEO - chronic progressive external ophthalmoplegia | SNOMEDCT ID:194034008 | UMLS ID:C0162674 | MONDO:0005181 | Chronic progressive ophthalmoplegia | Chronic progressive external ophthalmoplegia | Progressive external ophthalmoplegia (disorder) | Graefe's disease | DOID:12558 | SNOMEDCT ID:194126004 | Chronic progressive external ophthalmoplegia (disorder) | SNOMEDCT ID:46252003 | progressive external ophthalmoplegia +BMGC_DS03920,BMG_DS005750,MONDO:0005687 | UMLS ID:C0162677 | MeSH ID:D017250 | Caliciviridae infectious disease | Caliciviridae Infections +BMGC_DS03921,BMG_DS005751,DOID:8712 | UMLS ID:C0162678 | neurofibromatosis | MONDO:0021061 +BMGC_DS03922,BMG_DS005752,UMLS ID:C0162699 | Tick-Borne Infections | Tick-Borne Diseases | MeSH ID:D017282 +BMGC_DS03923,BMG_DS005753,MeSH ID:D017282 | UMLS ID:C0162700 | Tick-Borne Diseases | tick-borne infectious disease | MONDO:0025294 +BMGC_DS03924,BMG_DS005754,HELLP Syndrome | MONDO:0008585 | HELLP syndrome | UMLS ID:C0162739 | DOID:13133 | MeSH ID:D017359 +BMGC_DS03925,BMG_DS005755,"Hypertrophy, Right Ventricular | MeSH ID:D017380 | UMLS ID:C0162770 | Right Ventricular Hypertrophy" +BMGC_DS03926,BMG_DS005756,MeSH ID:D017436 | DOID:3614 | UMLS ID:C0162809 | Kallmann syndrome | Kallmann Syndrome | MONDO:0018800 +BMGC_DS03927,BMG_DS005759,"vascular skin disease | MeSH ID:D017445 | UMLS ID:C0162819 | MONDO:0019293 | DOID:9540 | Skin Diseases, Vascular | skin vascular disease" +BMGC_DS03928,BMG_DS005760,"DOID:3042 | MONDO:0006525 | Dermatitis, Allergic Contact | allergic contact dermatitis | UMLS ID:C0162820 | MeSH ID:D017449" +BMGC_DS03929,BMG_DS005761,"UMLS ID:C0162823 | MeSH ID:D017453 | MONDO:0006564 | Dermatitis, Irritant | irritant dermatitis | DOID:2772" +BMGC_DS03930,BMG_DS005762,"Dermatitis, Photoallergic | MONDO:0006596 | photoallergic dermatitis | DOID:3818 | UMLS ID:C0162824 | MeSH ID:D017454" +BMGC_DS03931,BMG_DS005763,"Dermatitis, Phototoxic | UMLS ID:C0162830 | MONDO:0006598 | MeSH ID:D017484 | phototoxic dermatitis | DOID:4407" +BMGC_DS03932,BMG_DS005764,MONDO:0019289 | UMLS ID:C0162834 | hyperpigmentation of the skin +BMGC_DS03933,BMG_DS005765,SNOMEDCT ID:201284005 | UMLS ID:C0162835 | Hypopigmentation disorder | hypopigmentation of the skin | MONDO:0019290 | Hypopigmentation disorder (disorder) +BMGC_DS03934,BMG_DS005766,DOID:2280 | UMLS ID:C0162836 | MONDO:0006559 | Hidradenitis Suppurativa | MeSH ID:D017497 | hidradenitis suppurativa +BMGC_DS03935,BMG_DS005767,"Porokeratosis | Porokeratosis, Palmoplantar | porokeratosis plantaris palmaris et disseminata | MONDO:0008291 | OMIM ID:175850 | UMLS ID:C0162838 | MeSH ID:D017499" +BMGC_DS03936,BMG_DS005768,MONDO:0006602 | UMLS ID:C0162839 | porokeratosis | DOID:3805 +BMGC_DS03937,BMG_DS005769,MeSH ID:D017512 | Lichenoid Eruptions | UMLS ID:C0162848 +BMGC_DS03938,BMG_DS005770,MONDO:0006571 | lichen nitidus | DOID:8573 | UMLS ID:C0162849 | Lichen Nitidus | MeSH ID:D017513 +BMGC_DS03939,BMG_DS005775,UMLS ID:C0162855 | DOID:3141 | cutaneous mucinosis | MeSH ID:D017520 | mucinoses | Mucinoses | MONDO:0002523 +BMGC_DS03940,BMG_DS005776,"MeSH ID:D017542 | UMLS ID:C0162869 | Aneurysm, Ruptured" +BMGC_DS03941,BMG_DS005777,DOID:7693 | abdominal aortic aneurysm | UMLS ID:C0162871 | MONDO:0005350 +BMGC_DS03942,BMG_DS005778,DOID:14004 | UMLS ID:C0162872 | MONDO:0005396 | thoracic aortic aneurysm +BMGC_DS03943,BMG_DS005780,OMIM ID:MTHU038623 | MeSH ID:D020159 | ICD10 ID:E72.23 | Arginosuccinate synthetase deficiency | ASA synthase deficiency | Citrullinemia (disorder) | citrullinemia | Citrullinemia | ASS deficiency | DOID:9273 | Citrullinaemia | MONDO:0015991 | UMLS ID:C0175683 | ASAS deficiency | Argininosuccinate synthase deficiency | SNOMEDCT ID:15489004 | Argininosuccinase deficiency | SNOMEDCT ID:398680004 | Citrullinuria +BMGC_DS03944,BMG_DS005781,MONDO:0009124 | UMLS ID:C0175691 | Dubowitz's syndrome | Dubowitz's syndrome (disorder) | OMIM ID:223370 | DOID:14796 | SNOMEDCT ID:2593002 | MeSH ID:C535718 | Dubowitz syndrome | ICD10 ID:Q87.19 +BMGC_DS03945,BMG_DS005782,UMLS ID:C0175692 | Johanson-Blizzard syndrome (disorder) | Johanson-Blizzard syndrome | OMIM ID:260450 | MONDO:0009479 | OMIM ID:243800 | DOID:14694 | SNOMEDCT ID:75979009 +BMGC_DS03946,BMG_DS005783,Russell-Silver syndrome | Silver syndrome | Russell's syndrome | Russell-Silver syndrome (disorder) | DOID:14681 | Silver-Russell syndrome | UMLS ID:C0175693 | SNOMEDCT ID:15069006 | MONDO:0008394 | ICD10 ID:Q87.19 +BMGC_DS03947,BMG_DS005784,DOID:14692 | Smith-Lemli-Opitz syndrome | MONDO:0010035 | OMIM ID:270400 | MeSH ID:D019082 | UMLS ID:C0175694 | Smith-Lemli-Opitz Syndrome +BMGC_DS03948,BMG_DS005785,OMIM ID:117550 | UMLS ID:C0175695 | SNOMEDCT ID:75968004 | Sotos syndrome | MONDO:0019349 | DOID:14748 | Sotos' syndrome | Cerebral giant | Cerebral gigantism syndrome | Sotos' syndrome (disorder) | Cerebral gigantism +BMGC_DS03949,BMG_DS005787,van der Woude syndrome | DOID:0060239 | Van der Woude syndrome | MONDO:0019508 | UMLS ID:C0175697 | Lip-pit-cleft lip syndrome | MeSH ID:C536528 | SNOMEDCT ID:79261008 | Van der Woude syndrome (disorder) +BMGC_DS03950,BMG_DS005788,Saethre-Chotzen syndrome | DOID:14768 | MeSH ID:D000168 | UMLS ID:C0175699 | OMIM ID:101400 | MONDO:0007042 | Saethre-Chotzen Syndrome | Acrocephalosyndactylia +BMGC_DS03951,BMG_DS005789,Multiple synostosis syndrome | calcaneonavicular coalition | Symphalangism syndrome | Multiple synostosis syndrome (disorder) | multiple synostoses syndrome | UMLS ID:C0175700 | MONDO:0017923 | SNOMEDCT ID:62628008 | DOID:14762 +BMGC_DS03952,BMG_DS005790,"UMLS ID:C0175701 | Aarskog-Scott syndrome, X-linked | OMIM ID:305400 | Aarskog syndrome (disorder) | DOID:6683 | MONDO:0010589 | SNOMEDCT ID:205809002 | X-linked Aarskog syndrome | Aarskog syndrome | SNOMEDCT ID:14921002 | ICD10 ID:Q87.19" +BMGC_DS03953,BMG_DS005791,OMIM ID:194050 | Williams syndrome | MONDO:0008678 | DOID:1928 | Williams Syndrome | MeSH ID:D018980 | Williams-Beuren syndrome | UMLS ID:C0175702 +BMGC_DS03954,BMG_DS005792,MONDO:0010121 | Thrombocytopenia-Absent Radius Syndrome | DOID:14699 | thrombocytopenia-absent radius syndrome | OMIM ID:274000 | UMLS ID:C0175703 | MeSH ID:C536940 +BMGC_DS03955,BMG_DS005793,MONDO:0007893 | MeSH ID:D044542 | DOID:14291 | LEOPARD Syndrome | Noonan syndrome with multiple lentigines | UMLS ID:C0175704 +BMGC_DS03956,BMG_DS005794,MeSH ID:D059446 | Heterotaxy Syndrome | UMLS ID:C0175707 | Asplenia Syndrome +BMGC_DS03957,BMG_DS005796,DOID:14717 | MONDO:0018947 | UMLS ID:C0175709 | SNOMEDCT ID:193223007 | Centronuclear myopathy (disorder) | Centronuclear myopathy | Myotubular myopathy (disorder) | ICD10 ID:G71.22 | SNOMEDCT ID:82077006 | centronuclear myopathy | Myotubular myopathy +BMGC_DS03958,BMG_DS005797,MONDO:0010568 | Aicardi's syndrome (disorder) | Aicardi syndrome | AIC - Aicardi syndrome | Aicardi's syndrome | DOID:8461 | UMLS ID:C0175713 | OMIM ID:304050 | SNOMEDCT ID:80651009 +BMGC_DS03959,BMG_DS005798,"UMLS ID:C0175754 | corpus callosum, agenesis of | OMIM ID:217990 | MONDO:0009022" +BMGC_DS03960,BMG_DS005800,Larsen syndrome | OMIM ID:150250 | Larsen's syndrome | Congenital limb deformity NOS | Claw toe | Larsen syndrome (disorder) | (Congenital limb deformity NOS) or (pes cavus) or (claw toe) or (dysmorphic toes) or (Larsen's syndrome) (disorder) | UMLS ID:C0175778 | SNOMEDCT ID:63387002 | Pes cavus | Cavus - pes | (Congenital limb deformity NOS) or (pes cavus) or (claw toe) or (dysmorphic toes) or (Larsen's syndrome) | MONDO:0007875 | SNOMEDCT ID:156993005 | SNOMEDCT ID:268343006 | Dysmorphic toes +BMGC_DS03961,BMG_DS005801,"UMLS ID:C0175816 | MONDO:0016450 | autoimmune hemolytic anemia, cold type" +BMGC_DS03962,BMG_DS005803,UMLS ID:C0175999 | Postinflammatory pulmonary fibrosis | Post-inflammatory pulmonary fibrosis | DOID:12123 | MONDO:0001438 | Post-inflammatory pulmonary fibrosis (disorder) | postinflammatory pulmonary fibrosis | SNOMEDCT ID:266368002 +BMGC_DS03963,BMG_DS005804,MONDO:0000916 | UMLS ID:C0178238 | DOID:100 | intestinal infectious disease | Infectious disease of intestine | Intestinal infectious disease | Intestinal infection | SNOMEDCT ID:266071000 | SNOMEDCT ID:187266003 | Intestinal infectious disease (disorder) +BMGC_DS03964,BMG_DS005809,ICD10 ID:G96 | Other disorders of central nervous system | UMLS ID:C0178266 +BMGC_DS03965,BMG_DS005819,Hypoplastic anaemia | Hypoplastic anemia (disorder) | UMLS ID:C0178416 | OMIM ID:MTHU014878 | SNOMEDCT ID:41614006 | Hypoplastic anemia +BMGC_DS03966,BMG_DS005820,MONDO:0002056 | DOID:1618 | UMLS ID:C0178421 | breast fibroadenoma +BMGC_DS03967,BMG_DS005821,Potter syndrome | BRA - Bilateral renal agenesis | Oligohydramnios sequence (disorder) | Oligohydramnios sequence | Potter's anomaly of the kidney | Renofacial syndrome | Congenital absence of kidneys syndrome | Renal agenesis syndrome | MONDO:0001558 | Potter's syndrome | Potter sequence | SNOMEDCT ID:41962002 | DOID:12594 | Bilateral congenital absence of kidneys | UMLS ID:C0178426 +BMGC_DS03968,BMG_DS005823,"Cerebral Hypoxia-Ischemia | Hypoxia-Ischemia, Brain | MeSH ID:D020925 | UMLS ID:C0178540" +BMGC_DS03969,BMG_DS005825,Glomerulosclerosis | glomerulosclerosis | MONDO:0000490 | UMLS ID:C0178664 | SNOMEDCT ID:197661001 | Glomerulosclerosis (disorder) +BMGC_DS03970,BMG_DS005829,DOID:193 | reproductive organ cancer | UMLS ID:C0178830 | reproductive system neoplasm | MONDO:0006054 +BMGC_DS03971,BMG_DS005830,Urinary tract obstruction (disorder) | Urinary tract obstruction | DOID:5200 | urinary tract obstruction | Obstructive uropathy | UMLS ID:C0178879 | SNOMEDCT ID:7163005 | MONDO:0003330 +BMGC_DS03972,BMG_DS005832,UMLS ID:C0205643 | cribriform carcinoma | DOID:5675 | MONDO:0006176 +BMGC_DS03973,BMG_DS005833,granular cell carcinoma | DOID:4903 | UMLS ID:C0205644 | MONDO:0003197 +BMGC_DS03974,BMG_DS005834,tubular adenocarcinoma | DOID:4929 | UMLS ID:C0205645 | MONDO:0005606 +BMGC_DS03975,BMG_DS005835,UMLS ID:C0205647 | follicular adenoma | DOID:6204 +BMGC_DS03976,BMG_DS005836,microcystic adenoma | MONDO:0003435 | UMLS ID:C0205648 | DOID:5403 +BMGC_DS03977,BMG_DS005837,UMLS ID:C0205650 | MONDO:0002533 | papillary adenoma | DOID:3172 +BMGC_DS03978,BMG_DS005838,"MONDO:0005650 | MeSH ID:D001117 | UMLS ID:C0205671 | Infections, Arenavirus | Arenaviridae infectious disease | Arenaviridae Infections" +BMGC_DS03979,BMG_DS005840,DOID:4015 | MONDO:0006406 | UMLS ID:C0205697 | sarcomatoid carcinoma +BMGC_DS03980,BMG_DS005843,UMLS ID:C0205710 | DOID:0080122 | Diffuse Cerebral Sclerosis of Schilder | Alpers-Huttenlocher syndrome | OMIM ID:203700 | MeSH ID:D002549 | MONDO:0008758 | mitochondrial DNA depletion syndrome 4a | Alpers Syndrome +BMGC_DS03981,BMG_DS005844,UMLS ID:C0205711 | OMIM ID:312080 | Pelizaeus-Merzbacher Disease | Pelizaeus-Merzbacher disease | MONDO:0010714 | DOID:3210 | Pelizeaus-Merzbacher spectrum disorder | MeSH ID:D020371 +BMGC_DS03982,BMG_DS005845,OMIM ID:180800 | UMLS ID:C0205713 | MONDO:0008392 | Roussy-Levy syndrome +BMGC_DS03983,BMG_DS005847,"MeSH ID:D003922 | UMLS ID:C0205734 | Diabetes Mellitus, Type 1 | Diabetes, Autoimmune" +BMGC_DS03984,BMG_DS005849,dysplastic nevus syndrome | DOID:10041 | UMLS ID:C0205747 +BMGC_DS03985,BMG_DS005850,MeSH ID:D005348 | Fibrocystic Breast Disease | Chronic Cystic Mastitis | UMLS ID:C0205765 +BMGC_DS03986,BMG_DS005851,fibromyxoid tumor | MONDO:0037745 | UMLS ID:C0205766 +BMGC_DS03987,BMG_DS005852,UMLS ID:C0205768 | MONDO:0016693 | DOID:5077 | subependymal giant cell astrocytoma +BMGC_DS03988,BMG_DS005853,MONDO:0016699 | UMLS ID:C0205769 | myxopapillary ependymoma | DOID:5075 +BMGC_DS03989,BMG_DS005854,OMIM ID:260500 | MONDO:0009837 | UMLS ID:C0205770 | DOID:2626 | choroid plexus papilloma +BMGC_DS03990,BMG_DS005855,DOID:474 | UMLS ID:C0205788 | MONDO:0021169 | histiocytoid hemangioma | epithelioid hemangioma +BMGC_DS03991,BMG_DS005856,MONDO:0003088 | DOID:468 | UMLS ID:C0205789 | intramuscular hemangioma +BMGC_DS03992,BMG_DS005857,DOID:1283 | enterocele | UMLS ID:C0205792 +BMGC_DS03993,BMG_DS005858,epithelioid leiomyosarcoma | DOID:5264 | UMLS ID:C0205815 | MONDO:0003356 +BMGC_DS03994,BMG_DS005859,UMLS ID:C0205816 | myxoid leiomyosarcoma | MONDO:0003359 | DOID:5268 +BMGC_DS03995,BMG_DS005861,pleomorphic lipoma | MONDO:0000966 | DOID:10192 | UMLS ID:C0205823 +BMGC_DS03996,BMG_DS005862,MONDO:0020563 | dedifferentiated liposarcoma | UMLS ID:C0205824 +BMGC_DS03997,BMG_DS005863,UMLS ID:C0205825 | DOID:5702 | pleomorphic liposarcoma | MONDO:0020562 +BMGC_DS03998,BMG_DS005865,UMLS ID:C0205833 | medullomyoblastoma | DOID:3861 | MONDO:0006300 | medullomyoblastoma with myogenic differentiation +BMGC_DS03999,BMG_DS005866,DOID:2994 | germ cell cancer | MONDO:0005040 | germ cell tumor | UMLS ID:C0205851 +BMGC_DS04000,BMG_DS005869,squamous cell papilloma | MONDO:0001825 | DOID:139 | squamous papilloma | UMLS ID:C0205874 +BMGC_DS04001,BMG_DS005870,UMLS ID:C0205875 | papillomatosis | papilloma | MONDO:0021098 | DOID:2615 +BMGC_DS04002,BMG_DS005872,MONDO:0016722 | pineoblastoma | UMLS ID:C0205898 | DOID:1664 +BMGC_DS04003,BMG_DS005874,"ICD10 ID:M89.0 | SNOMEDCT ID:7359008 | Reflex sympathetic dystrophy (disorder) | SNOMEDCT ID:203490000 | Complex regional pain syndrome type I | algoneurodystrophy | MONDO:0001859 | Disorders associated with bone growth, unspecified | ICD11 ID:FB86.Z | RSD - Reflex sympathetic dystrophy | Algoneurodystrophy | Reflex sympathetic dystrophy | Algodystrophy | CRPS - Complex regional pain syndrome type I | DOID:14022 | UMLS ID:C0205930 | Algoneurodystrophy (disorder)" +BMGC_DS04004,BMG_DS005875,DOID:6193 | UMLS ID:C0205944 | epithelioid sarcoma | MONDO:0017387 +BMGC_DS04005,BMG_DS005876,UMLS ID:C0205945 | DOID:4235 | spindle cell sarcoma | MONDO:0002927 +BMGC_DS04006,BMG_DS005877,DOID:3284 | MONDO:0006451 | thymic carcinoma | UMLS ID:C0205969 +BMGC_DS04007,BMG_DS005878,AIDS Dementia Complex | HIV Encephalopathy | UMLS ID:C0206019 | MeSH ID:D015526 +BMGC_DS04008,BMG_DS005879,"UMLS ID:C0206042 | fatal familial insomnia | DOID:0050433 | Fatal Familial Insomnia | Insomnia, Fatal Familial | OMIM ID:600072 | MONDO:0010808 | MeSH ID:D034062" +BMGC_DS04009,BMG_DS005880,"MONDO:0005687 | Infections, Calicivirus | MeSH ID:D017250 | Caliciviridae infectious disease | UMLS ID:C0206044 | Caliciviridae Infections" +BMGC_DS04010,BMG_DS005881,"UMLS ID:C0206051 | Allergic photosensitivity | Dermatitis, Photoallergic | SNOMEDCT ID:90128006 | Photosensitivity (finding) | Photosensitivity of skin | Photoallergy (disorder) | SNOMEDCT ID:115664001 | Immunologic photosensitivity | Photosensitivity | Photoallergy | MeSH ID:D017454" +BMGC_DS04011,BMG_DS005882,"UMLS ID:C0206061 | Lung Diseases, Interstitial | MeSH ID:D017563 | Pneumonia, Interstitial" +BMGC_DS04012,BMG_DS005883,"UMLS ID:C0206062 | Lung Diseases, Interstitial | DOID:3082 | interstitial lung disease | MeSH ID:D017563" +BMGC_DS04013,BMG_DS005884,MeSH ID:D017566 | coronary microvascular disorder | Microvascular Angina | MONDO:0044875 | UMLS ID:C0206064 +BMGC_DS04014,BMG_DS005885,MeSH ID:D017573 | OMIM ID:229045 | Focal Epithelial Hyperplasia | UMLS ID:C0206067 | DOID:5362 | MONDO:0009237 | focal epithelial hyperplasia +BMGC_DS04015,BMG_DS005886,OMIM ID:MTHU024060 | UMLS ID:C0206081 | Hyperandrogenization syndrome | obsolete hyperandrogenism | hyperandrogenism | DOID:11613 | MeSH ID:D017588 | Hyperandrogenism | SNOMEDCT ID:237793004 | Hyperandrogenization syndrome (disorder) | MONDO:0001324 | Hyperandrogenisation syndrome +BMGC_DS04016,BMG_DS005887,"Myelinolysis, Central Pontine | central pontine myelinolysis | DOID:636 | MeSH ID:D017590 | MONDO:0006692 | UMLS ID:C0206083" +BMGC_DS04017,BMG_DS005888,DOID:0060165 | Kleine-Levin syndrome | OMIM ID:148840 | MeSH ID:D017593 | Kleine-Levin Syndrome | UMLS ID:C0206085 | MONDO:0007863 +BMGC_DS04018,BMG_DS005889,DOID:171 | neuroectodermal tumor | UMLS ID:C0206093 +BMGC_DS04019,BMG_DS005892,DOID:14515 | WAGR syndrome | MeSH ID:D017624 | WAGR Syndrome | MONDO:0008681 | OMIM ID:194072 | UMLS ID:C0206115 +BMGC_DS04020,BMG_DS005893,MeSH ID:D017675 | CREST syndrome | CREST Syndrome | MONDO:0019563 | DOID:0060218 | UMLS ID:C0206138 +BMGC_DS04021,BMG_DS005894,"Lichen Planus, Oral | lichen planus, oral | UMLS ID:C0206139 | MONDO:0043923 | MeSH ID:D017676" +BMGC_DS04022,BMG_DS005895,Idiopathic Hypereosinophilic Syndrome | idiopathic hypereosinophilic syndrome | MONDO:0011895 | OMIM ID:607685 | Hypereosinophilic Syndrome | MeSH ID:D017681 | UMLS ID:C0206141 +BMGC_DS04023,BMG_DS005896,Loeffler's Endocarditis | MONDO:0019159 | UMLS ID:C0206143 | Hypereosinophilic Syndrome | MeSH ID:D017681 | Loeffler endocarditis +BMGC_DS04024,BMG_DS005897,Stunned Myocardium | UMLS ID:C0206145 | Myocardial Stunning | MeSH ID:D017682 +BMGC_DS04025,BMG_DS005898,UMLS ID:C0206146 | Myocardial Stunning | MONDO:0004876 | MeSH ID:D017682 | DOID:9767 | myocardial stunning +BMGC_DS04026,BMG_DS005900,"DOID:3191 | UMLS ID:C0206157 | Myopathies, Nemaline | MeSH ID:D017696 | MONDO:0018958 | nemaline myopathy" +BMGC_DS04027,BMG_DS005901,Community-Acquired Infections | MeSH ID:D017714 | UMLS ID:C0206171 +BMGC_DS04028,BMG_DS005903,DOID:0080160 | MeSH ID:D017726 | Cytomegalovirus Retinitis | UMLS ID:C0206178 | MONDO:0000878 | Cytomegalovirus retinitis | cytomegalovirus retinitis +BMGC_DS04029,BMG_DS005904,MONDO:0020325 | anaplastic large cell lymphoma | UMLS ID:C0206180 +BMGC_DS04030,BMG_DS005905,UMLS ID:C0206182 | lymphomatoid papulosis | MONDO:0020326 +BMGC_DS04031,BMG_DS005906,oral hairy leukoplakia | UMLS ID:C0206186 | MONDO:0000743 | DOID:0060315 +BMGC_DS04032,BMG_DS005909,"Amyloid Neuropathies, Familial | familial amyloid neuropathy | MONDO:0007100 | MeSH ID:D028227 | UMLS ID:C0206245" +BMGC_DS04033,BMG_DS005910,MeSH ID:D017772 | UMLS ID:C0206247 | Amyloid Neuropathies +BMGC_DS04034,BMG_DS005912,Canavan Disease | OMIM ID:271900 | Canavan disease | DOID:3613 | MeSH ID:D017825 | UMLS ID:C0206307 | MONDO:0010079 +BMGC_DS04035,BMG_DS005913,exfoliation syndrome | UMLS ID:C0206368 | Exfoliation Syndrome | MONDO:0008327 | DOID:13641 | MeSH ID:D017889 +BMGC_DS04036,BMG_DS005915,"drug-resistant tuberculosis | Tuberculosis, Drug-Resistant | MeSH ID:D018088 | UMLS ID:C0206525 | Tuberculosis, Multidrug-Resistant | MONDO:0041806" +BMGC_DS04037,BMG_DS005916,"DOID:401 | multidrug-resistant tuberculosis | MeSH ID:D018088 | MONDO:0005861 | Tuberculosis, Multidrug-Resistant | UMLS ID:C0206526" +BMGC_DS04038,BMG_DS005918,MeSH ID:D018159 | endolymphatic hydrops | DOID:9848 | MONDO:0006744 | UMLS ID:C0206586 | Endolymphatic Hydrops +BMGC_DS04039,BMG_DS005924,MeSH ID:D018177 | Flavivirus Infections | UMLS ID:C0206608 +BMGC_DS04040,BMG_DS005930,Cardiovirus Infections | cardiovirus infectious disease | MONDO:0005691 | MeSH ID:D018188 | UMLS ID:C0206617 +BMGC_DS04041,BMG_DS005932,cystic lymphangioma | cystic hygroma | MONDO:0009761 | UMLS ID:C0206620 | OMIM ID:257350 | DOID:3081 +BMGC_DS04042,BMG_DS005933,MONDO:0005635 | UMLS ID:C0206622 | DOID:2609 | adenomyoma +BMGC_DS04043,BMG_DS005934,DOID:4830 | MONDO:0006074 | UMLS ID:C0206623 | adenosquamous carcinoma +BMGC_DS04044,BMG_DS005935,DOID:687 | MONDO:0018666 | hepatoblastoma | UMLS ID:C0206624 +BMGC_DS04045,BMG_DS005936,mixed cell type cancer | MONDO:0005853 | malignant mixed neoplasm | UMLS ID:C0206625 | DOID:154 +BMGC_DS04046,BMG_DS005937,DOID:4236 | carcinosarcoma | UMLS ID:C0206627 +BMGC_DS04047,BMG_DS005939,DOID:4765 | UMLS ID:C0206629 | pulmonary blastoma | MONDO:0005933 +BMGC_DS04048,BMG_DS005940,DOID:4226 | MONDO:0006745 | endometrioid stromal sarcoma | endometrial stromal sarcoma | UMLS ID:C0206630 +BMGC_DS04049,BMG_DS005941,UMLS ID:C0206631 | lipoma | MONDO:0021354 | DOID:3315 | tumor of adipose tissue +BMGC_DS04050,BMG_DS005942,MONDO:0006085 | UMLS ID:C0206632 | DOID:3616 | angiolipoma +BMGC_DS04051,BMG_DS005943,MONDO:0002603 | DOID:3314 | UMLS ID:C0206633 | angiomyolipoma +BMGC_DS04052,BMG_DS005944,UMLS ID:C0206634 | DOID:5363 | OMIM ID:613488 | myxoid liposarcoma | MONDO:0013280 +BMGC_DS04053,BMG_DS005946,MONDO:0006853 | DOID:4545 | UMLS ID:C0206637 | mesenchymal chondrosarcoma +BMGC_DS04054,BMG_DS005947,UMLS ID:C0206638 | MONDO:0005674 | DOID:4305 | bone giant cell tumor +BMGC_DS04055,BMG_DS005948,DOID:3347 | osteosarcoma | UMLS ID:C0206639 +BMGC_DS04056,BMG_DS005950,parosteal osteosarcoma | DOID:3373 | juxtacortical osteosarcoma | UMLS ID:C0206642 | MONDO:0006817 +BMGC_DS04057,BMG_DS005951,fibroblastic neoplasm | MONDO:0006209 | DOID:3355 | UMLS ID:C0206643 | fibrosarcoma +BMGC_DS04058,BMG_DS005952,benign fibrous histiocytoma | MONDO:0002989 | UMLS ID:C0206644 | DOID:4415 | fibrous histiocytoma +BMGC_DS04059,BMG_DS005953,DOID:3507 | UMLS ID:C0206647 | dermatofibrosarcoma protuberans +BMGC_DS04060,BMG_DS005955,DOID:1618 | UMLS ID:C0206650 | breast fibroadenoma +BMGC_DS04061,BMG_DS005956,clear cell sarcoma | UMLS ID:C0206651 | DOID:4233 | MONDO:0002926 +BMGC_DS04062,BMG_DS005957,small cell sarcoma | MONDO:0006974 | DOID:3098 | UMLS ID:C0206652 +BMGC_DS04063,BMG_DS005958,DOID:4265 | UMLS ID:C0206653 | MONDO:0006646 | angioleiomyoma | angiomyoma +BMGC_DS04064,BMG_DS005959,MONDO:0003295 | leiomyomatosis | UMLS ID:C0206654 | DOID:5138 +BMGC_DS04065,BMG_DS005960,DOID:4051 | MONDO:0009994 | OMIM ID:268220 | UMLS ID:C0206655 | alveolar rhabdomyosarcoma +BMGC_DS04066,BMG_DS005961,DOID:3246 | UMLS ID:C0206656 | OMIM ID:268210 | embryonal rhabdomyosarcoma | MONDO:0009993 +BMGC_DS04067,BMG_DS005962,DOID:4239 | MONDO:0011655 | UMLS ID:C0206657 | OMIM ID:606243 | alveolar soft part sarcoma +BMGC_DS04068,BMG_DS005963,MONDO:0006975 | smooth muscle tumor | DOID:4310 | UMLS ID:C0206658 +BMGC_DS04069,BMG_DS005964,MONDO:0005440 | UMLS ID:C0206659 | DOID:3308 | embryonal carcinoma +BMGC_DS04070,BMG_DS005965,UMLS ID:C0206660 | MONDO:0002598 | DOID:3304 | germinoma +BMGC_DS04071,BMG_DS005967,UMLS ID:C0206663 | medulloblastoma | DOID:0050902 | primitive neuroectodermal tumor | MONDO:0005462 +BMGC_DS04072,BMG_DS005968,UMLS ID:C0206664 | teratocarcinoma | DOID:3305 | MONDO:0002599 +BMGC_DS04073,BMG_DS005969,MONDO:0020552 | UMLS ID:C0206666 | placental site trophoblastic tumor | DOID:3596 +BMGC_DS04074,BMG_DS005970,MONDO:0003924 | adrenal cortex adenoma | UMLS ID:C0206667 +BMGC_DS04075,BMG_DS005971,UMLS ID:C0206669 | MONDO:0018902 | hepatocellular adenoma +BMGC_DS04076,BMG_DS005972,MONDO:0006738 | UMLS ID:C0206671 | eccrine acrospiroma | DOID:5442 +BMGC_DS04077,BMG_DS005973,hidrocystoma | UMLS ID:C0206672 | DOID:3893 | MONDO:0006787 +BMGC_DS04078,BMG_DS005974,UMLS ID:C0206673 | DOID:2065 | MONDO:0002191 | syringoma +BMGC_DS04079,BMG_DS005975,MONDO:0000502 | villous adenoma | UMLS ID:C0206674 +BMGC_DS04080,BMG_DS005976,DOID:746 | MONDO:0004230 | UMLS ID:C0206675 | adenomatoid tumor +BMGC_DS04081,BMG_DS005977,DOID:4468 | UMLS ID:C0206681 | MONDO:0005004 | clear cell adenocarcinoma +BMGC_DS04082,BMG_DS005978,follicular thyroid carcinoma | MONDO:0005034 | thyroid gland follicular carcinoma | DOID:3962 | UMLS ID:C0206682 +BMGC_DS04083,BMG_DS005980,MONDO:0006962 | DOID:4839 | sebaceous adenocarcinoma | UMLS ID:C0206684 +BMGC_DS04084,BMG_DS005981,acinar cell carcinoma | DOID:3025 | UMLS ID:C0206685 | MONDO:0004965 +BMGC_DS04085,BMG_DS005982,MONDO:0006639 | DOID:3948 | adrenal cortex carcinoma | adrenocortical carcinoma | UMLS ID:C0206686 +BMGC_DS04086,BMG_DS005983,endometrial carcinoma | UMLS ID:C0206687 | DOID:2871 +BMGC_DS04087,BMG_DS005984,invasive lobular carcinoma | UMLS ID:C0206692 | MONDO:0000552 | DOID:3457 | breast lobular carcinoma +BMGC_DS04088,BMG_DS005985,MONDO:0003036 | UMLS ID:C0206694 | mucoepidermoid carcinoma | DOID:4531 +BMGC_DS04089,BMG_DS005986,MONDO:0002120 | UMLS ID:C0206695 | DOID:1800 | neuroendocrine carcinoma +BMGC_DS04090,BMG_DS005987,MONDO:0005092 | signet ring cell carcinoma | UMLS ID:C0206696 | DOID:3493 | signet ring cell adenocarcinoma +BMGC_DS04091,BMG_DS005989,UMLS ID:C0206698 | cholangiocarcinoma | DOID:4947 | MONDO:0019087 +BMGC_DS04092,BMG_DS005990,DOID:3603 | mucinous cystadenocarcinoma | UMLS ID:C0206699 | MONDO:0005858 +BMGC_DS04093,BMG_DS005991,UMLS ID:C0206700 | DOID:3110 | MONDO:0005074 | papillary cystadenocarcinoma +BMGC_DS04094,BMG_DS005992,MONDO:0024621 | serous cystadenocarcinoma | UMLS ID:C0206701 | DOID:3114 +BMGC_DS04095,BMG_DS005993,UMLS ID:C0206702 | Klatskin's tumor | DOID:4927 | hilar cholangiocarcinoma | MONDO:0003345 +BMGC_DS04096,BMG_DS005994,lung giant cell carcinoma | DOID:5583 | UMLS ID:C0206703 +BMGC_DS04097,BMG_DS005995,MONDO:0005232 | UMLS ID:C0206704 | DOID:4552 | large cell carcinoma +BMGC_DS04098,BMG_DS005996,DOID:3737 | MONDO:0006006 | verrucous carcinoma | UMLS ID:C0206706 +BMGC_DS04099,BMG_DS005999,basal cell neoplasm | MONDO:0020799 | DOID:2513 | UMLS ID:C0206710 | basal cell carcinoma +BMGC_DS04100,BMG_DS006000,OMIM ID:132600 | UMLS ID:C0206711 | DOID:5374 | MONDO:0007564 | pilomatrixoma +BMGC_DS04101,BMG_DS006001,UMLS ID:C0206713 | DOID:1627 | MONDO:0002060 | intraductal papilloma +BMGC_DS04102,BMG_DS006003,ganglioglioma | MONDO:0016733 | UMLS ID:C0206716 | DOID:5078 +BMGC_DS04103,BMG_DS006004,MONDO:0016029 | DOID:369 | olfactory neuroblastoma | UMLS ID:C0206717 | esthesioneuroblastoma +BMGC_DS04104,BMG_DS006005,MONDO:0005035 | ganglioneuroblastoma | UMLS ID:C0206718 | DOID:4163 +BMGC_DS04105,BMG_DS006006,UMLS ID:C0206719 | MONDO:0019134 | DOID:14174 | central neurocytoma +BMGC_DS04106,BMG_DS006007,DOID:3168 | squamous cell neoplasm | MONDO:0002532 | UMLS ID:C0206720 +BMGC_DS04107,BMG_DS006008,DOID:3179 | UMLS ID:C0206721 | MONDO:0002537 | inverted papilloma +BMGC_DS04108,BMG_DS006010,MONDO:0002479 | Sertoli-Leydig cell tumor | DOID:2997 | UMLS ID:C0206723 +BMGC_DS04109,BMG_DS006011,sex cord-stromal tumor | sex cord-gonadal stromal tumor | MONDO:0006055 | DOID:192 | UMLS ID:C0206724 +BMGC_DS04110,BMG_DS006012,MONDO:0007667 | subependymal glioma | subependymoma | UMLS ID:C0206725 | DOID:4843 +BMGC_DS04111,BMG_DS006013,DOID:3071 | UMLS ID:C0206726 | MONDO:0016681 | gliosarcoma +BMGC_DS04112,BMG_DS006014,DOID:1192 | MONDO:0002547 | UMLS ID:C0206727 | nerve sheath neoplasm | peripheral nervous system neoplasm +BMGC_DS04113,BMG_DS006015,MONDO:0003304 | DOID:5151 | UMLS ID:C0206728 | plexiform neurofibroma +BMGC_DS04114,BMG_DS006016,neurofibrosarcoma | DOID:3512 | MONDO:0002675 | UMLS ID:C0206729 +BMGC_DS04115,BMG_DS006018,MONDO:0002407 | DOID:2725 | UMLS ID:C0206733 | capillary hemangioma +BMGC_DS04116,BMG_DS006019,DOID:5241 | MONDO:0016748 | UMLS ID:C0206734 | hemangioblastoma +BMGC_DS04117,BMG_DS006020,DOID:4359 | MONDO:0002971 | UMLS ID:C0206735 | amelanotic melanoma +BMGC_DS04118,BMG_DS006021,MONDO:0006680 | blue nevus | UMLS ID:C0206736 +BMGC_DS04119,BMG_DS006024,UMLS ID:C0206739 | MONDO:0044793 | spitz nevus +BMGC_DS04120,BMG_DS006025,rhabdoid cancer | DOID:3672 | UMLS ID:C0206743 | rhabdoid tumor | MONDO:0002728 +BMGC_DS04121,BMG_DS006026,"MONDO:0005807 | idiopathic CD4-positive T-lymphocytopenia | UMLS ID:C0206744 | T-Lymphocytopenia, Idiopathic CD4-Positive | DOID:3109 | MeSH ID:D018344" +BMGC_DS04122,BMG_DS006028,Coronavinae infectious disease | Coronavirus Infections | MONDO:0005719 | UMLS ID:C0206750 | MeSH ID:D018352 +BMGC_DS04123,BMG_DS006032,MONDO:0019496 | neuroendocrine neoplasm | neuroendocrine tumor | DOID:169 | UMLS ID:C0206754 +BMGC_DS04124,BMG_DS006033,UMLS ID:C0206762 | MONDO:0017427 | congenital deformities of limbs +BMGC_DS04125,BMG_DS006036,UMLS ID:C0220616 | Bartholin gland neoplasm | DOID:2068 | MONDO:0021114 | Bartholin's gland benign neoplasm +BMGC_DS04126,BMG_DS006038,brain cancer | UMLS ID:C0220624 | DOID:1319 +BMGC_DS04127,BMG_DS006039,UMLS ID:C0220633 | uveal melanoma | OMIM ID:155720 | MONDO:0006486 | DOID:6039 +BMGC_DS04128,BMG_DS006040,MONDO:0004669 | UMLS ID:C0220636 | salivary gland cancer +BMGC_DS04129,BMG_DS006041,lip and oral cavity carcinoma | MONDO:0023644 | UMLS ID:C0220641 +BMGC_DS04130,BMG_DS006045,MeSH ID:D000168 | Pfeiffer syndrome | Pfeiffer Syndrome | MONDO:0007043 | UMLS ID:C0220658 | OMIM ID:101600 | DOID:14705 | Acrocephalosyndactylia +BMGC_DS04131,BMG_DS006046,acrodysostosis | Acrodysostosis (disorder) | Acrodysostosis | DOID:14669 | MONDO:0019797 | UMLS ID:C0220659 | SNOMEDCT ID:66758006 | OMIM ID:MTHU039921 | MeSH ID:C538179 +BMGC_DS04132,BMG_DS006047,"MONDO:0007062 | adactylia, unilateral | OMIM ID:102650 | UMLS ID:C0220660" +BMGC_DS04133,BMG_DS006048,"arthrogryposis, distal, type 1A | UMLS ID:C0220662 | MONDO:0007157 | ARTHROGRYPOSIS, DISTAL, TYPE 1 | OMIM ID:108120" +BMGC_DS04134,BMG_DS006049,"blepharophimosis, ptosis, and epicanthus inversus syndrome | MONDO:0007201 | DOID:14778 | OMIM ID:110100 | Blepharophimosis, Ptosis, and Epicanthus Inversus | UMLS ID:C0220663 | MeSH ID:C562419" +BMGC_DS04135,BMG_DS006050,OMIM ID:113200 | brachydactyly type D | MONDO:0007222 | UMLS ID:C0220664 +BMGC_DS04136,BMG_DS006051,"ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA | UMLS ID:C0220666 | Gordon syndrome | OMIM ID:114300 | MONDO:0007252" +BMGC_DS04137,BMG_DS006052,DOID:0111595 | MONDO:0007363 | UMLS ID:C0220668 | OMIM ID:121050 | congenital contractural arachnodactyly +BMGC_DS04138,BMG_DS006053,benign neonatal seizures | MONDO:0016027 | DOID:14777 | benign familial neonatal epilepsy | UMLS ID:C0220669 +BMGC_DS04139,BMG_DS006055,UMLS ID:C0220681 | oculoauriculovertebral spectrum with radial defects | OMIM ID:141400 | MONDO:0007712 | Goldenhar Syndrome with Ipsilateral Radial Defect | MeSH ID:D006053 | Goldenhar Syndrome +BMGC_DS04140,BMG_DS006056,MONDO:0008702 | achondrogenesis type II | UMLS ID:C0220685 | OMIM ID:200610 +BMGC_DS04141,BMG_DS006057,UMLS ID:C0220686 | MeSH ID:C535332 | OMIM ID:147800 | Aase Smith syndrome | MONDO:0007839 | Aase-Smith syndrome +BMGC_DS04142,BMG_DS006058,"SNOMEDCT ID:711156009 | OMIM ID:148050 | Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) | DOID:14780 | Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome | UMLS ID:C0220687 | MeSH ID:C537015 | MONDO:0007846 | KBG syndrome" +BMGC_DS04143,BMG_DS006059,"MONDO:0007923 | UMLS ID:C0220690 | OMIM ID:153470 | macrocephaly, benign familial" +BMGC_DS04144,BMG_DS006060,"Binder syndrome | MeSH ID:C536036 | OMIM ID:155050 | DOID:14683 | UMLS ID:C0220692 | Maxillonasal dysplasia, Binder type | MONDO:0007953" +BMGC_DS04145,BMG_DS006061,UMLS ID:C0220693 | autosomal dominant microcephaly | MeSH ID:C537323 | DOID:14725 | Microcephaly autosomal dominant | OMIM ID:156580 | autosomal dominant primary microcephaly | MONDO:0007988 +BMGC_DS04146,BMG_DS006063,DOID:1148 | UMLS ID:C0220697 | polydactyly | MONDO:0020927 | postaxial polydactyly +BMGC_DS04147,BMG_DS006064,DOID:10584 | OMIM ID:603937 | retinitis pigmentosa 1 | MONDO:0008377 | UMLS ID:C0220701 | RETINITIS PIGMENTOSA 1 | OMIM ID:180100 | retinitis pigmentosa +BMGC_DS04148,BMG_DS006065,MONDO:0008414 | UMLS ID:C0220702 | OMIM ID:181510 | schizophrenia 1 +BMGC_DS04149,BMG_DS006066,DOID:12583 | Velocardiofacial syndrome | OMIM ID:192430 | UMLS ID:C0220704 | SNOMEDCT ID:205642004 | Shprintzen syndrome (disorder) | VCF-Velocardiofacial syndrome | velocardiofacial syndrome | MONDO:0008644 | SNOMEDCT ID:83092002 | Shprintzen syndrome | 22q11 microdeletion with velocardiofacial syndrome phenotype | Velo-cardio-facial syndrome +BMGC_DS04150,BMG_DS006067,UMLS ID:C0220708 | DOID:14679 | VACTERL association +BMGC_DS04151,BMG_DS006068,MCAD deficiency | SNOMEDCT ID:128596003 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | UMLS ID:C0220710 | Reye's encephalopathy | MCAD - Medium chain acyl-CoA dehydrogenase deficiency | Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | MONDO:0008721 | Reye syndrome | medium chain acyl-CoA dehydrogenase deficiency | Reye's syndrome (disorder) | Medium chain acyl-CoA dehydrogenase deficiency | SNOMEDCT ID:74351001 | Reye's syndrome | OMIM ID:201450 +BMGC_DS04152,BMG_DS006069,Long chain acyl-coenzyme A dehydrogenase deficiency | long chain acyl-CoA dehydrogenase deficiency | UMLS ID:C0220711 | LCAD - Long chain acyl-CoA dehydrogenase deficiency | Long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | MONDO:0020531 | SNOMEDCT ID:237996001 | Long chain acyl-CoA dehydrogenase deficiency +BMGC_DS04153,BMG_DS006070,"CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY | OMIM ID:212500 | UMLS ID:C0220721 | OMIM ID:616312 | MONDO:0008925 | cataract 46 juvenile-onset" +BMGC_DS04154,BMG_DS006071,MeSH ID:C562434 | Cerebrooculofacioskeletal Syndrome 1 | OMIM ID:214150 | cerebrooculofacioskeletal syndrome 1 | UMLS ID:C0220722 | MONDO:0008955 +BMGC_DS04155,BMG_DS006072,DOID:9574 | UMLS ID:C0220723 | choanal atresia +BMGC_DS04156,BMG_DS006073,OMIM ID:217100 | amniotic band syndrome | UMLS ID:C0220724 | MONDO:0015167 +BMGC_DS04157,BMG_DS006074,DTD - Diastrophic dysplasia | SNOMEDCT ID:58561002 | ICD11 ID:LD24.03 | Diastrophic dysplasia syndrome | Diastrophic dwarfism | MONDO:0009107 | ICD10 ID:Q77.5 | Diastrophic dwarf | DOID:14687 | UMLS ID:C0220726 | Diastrophic dysplasia | diastrophic dysplasia | DD - Diastrophic dysplasia | Diastrophic dysplasia (disorder) | MeSH ID:C536170 | OMIM ID:222600 | Diastrophic nanism syndrome +BMGC_DS04158,BMG_DS006075,"Fryns syndrome | UMLS ID:C0220730 | MeSH ID:C538070 | Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Diaphragmatic hernia, abnormal face and distal limb anomalies | SNOMEDCT ID:702432006 | MONDO:0009253 | OMIM ID:229850" +BMGC_DS04159,BMG_DS006077,"Bixler Christian Gorlin syndrome | UMLS ID:C0220742 | hypertelorism, microtia, facial clefting syndrome | Hypertelorism with microtia and facial clefting syndrome | MONDO:0009404 | SNOMEDCT ID:721836009 | Hypertelorism with microtia and facial clefting syndrome (disorder) | OMIM ID:239800 | DOID:14670 | HMC (hypertelorism, microtia, clefting) syndrome | MeSH ID:C537632" +BMGC_DS04160,BMG_DS006078,"SNOMEDCT ID:30174008 | Childhood hypophosphatasia (disorder) | UMLS ID:C0220743 | hypophosphatasia | Hypophosphatasia, childhood type | Juvenile hypophosphatasia | DOID:14213 | Childhood hypophosphatasia" +BMGC_DS04161,BMG_DS006079,MONDO:0009465 | DOID:14671 | multiple intestinal atresia | UMLS ID:C0220744 +BMGC_DS04162,BMG_DS006080,MeSH ID:C535916 | UMLS ID:C0220748 | OMIM ID:250250 | cartilage-hair hypoplasia | Cartilage-hair hypoplasia | DOID:14773 | MONDO:0009595 +BMGC_DS04163,BMG_DS006082,MONDO:0009665 | UMLS ID:C0220754 | OMIM ID:253260 | Biotinidase Deficiency | MeSH ID:D028921 | DOID:856 | biotinidase deficiency +BMGC_DS04164,BMG_DS006083,"Niemann-Pick Disease, Type C | MONDO:0018982 | Niemann-Pick disease type C | MeSH ID:D052556 | UMLS ID:C0220756" +BMGC_DS04165,BMG_DS006084,"OMIM ID:188700 | UMLS ID:C0220757 | MONDO:0008571 | Blount's disease | DOID:14798 | Blount disease, infantile" +BMGC_DS04166,BMG_DS006085,Weaver-Like Syndrome | MeSH ID:C562443 | DOID:14731 | Weaver syndrome | UMLS ID:C0220765 +BMGC_DS04167,BMG_DS006086,DOID:14737 | UMLS ID:C0220767 | Craniofrontonasal dysplasia (disorder) | SNOMEDCT ID:715421009 | Craniofrontonasal dysplasia | OMIM ID:304110 | MONDO:0010570 | MeSH ID:C536456 | Craniofrontonasal syndrome | craniofrontonasal syndrome +BMGC_DS04168,BMG_DS006087,FG syndrome (disorder) | DOID:14711 | MeSH ID:C537923 | MONDO:0002010 | SNOMEDCT ID:49984004 | UMLS ID:C0220769 | FG syndrome +BMGC_DS04169,BMG_DS006088,"Partington syndrome | UMLS ID:C0220775 | MONDO:0010727 | DOID:14744 | Russell-silver syndrome, X-linked | OMIM ID:312780 | RUSSELL-SILVER SYNDROME, X-LINKED" +BMGC_DS04170,BMG_DS006091,metabolic acidosis | UMLS ID:C0220981 | MONDO:0000440 +BMGC_DS04171,BMG_DS006092,MeSH ID:D007662 | Ketoacidosis (disorder) | OMIM ID:MTHU012088 | Ketoacidosis | SNOMEDCT ID:56051008 | UMLS ID:C0220982 | Ketosis +BMGC_DS04172,BMG_DS006093,OMIM ID:258900 | SNOMEDCT ID:16242007 | orotic aciduria | MONDO:0009797 | Hereditary orotic aciduria (disorder) | Hereditary orotic aciduria | UMLS ID:C0220987 +BMGC_DS04173,BMG_DS006094,MONDO:0000721 | Xanthinuria | DOID:0060236 | SNOMEDCT ID:190919008 | xanthinuria | UMLS ID:C0220988 | Xanthinuria (disorder) +BMGC_DS04174,BMG_DS006095,Barraquer syndrome | Acquired partial lipodystrophy (disorder) | Macrodystrophia lipomatosa progressiva | Barraquer-Simons syndrome | Barraquer-Simons disease | Partial lipoatrophy | Hollander-Simons syndrome | MONDO:0012104 | Progressive partial lipodystrophy | Lipodystrophic diabetes with partial lipoatrophy | SNOMEDCT ID:75659004 | Acquired partial lipodystrophy | acquired partial lipodystrophy | Progressive lipodystrophy | UMLS ID:C0220989 +BMGC_DS04175,BMG_DS006096,"UMLS ID:C0220991 | MONDO:0009379 | Rotor syndrome | MeSH ID:D006933 | OMIM ID:237450 | Hyperbilirubinemia, Hereditary | Rotor Syndrome" +BMGC_DS04176,BMG_DS006097,MONDO:0009345 | MeSH ID:C538320 | Histidase deficiency | Histidinemia (disorder) | UMLS ID:C0220992 | Histidinaemia | Histidine ammonia-lyase deficiency | Histidine ammonia-lyase deficiency (disorder) | DOID:0060168 | SNOMEDCT ID:68458004 | Histidinemia | histidinemia | OMIM ID:235800 | SNOMEDCT ID:410058007 | ICD10 ID:E70.41 +BMGC_DS04177,BMG_DS006098,ICD10 ID:E72.19 | Cystathionine gamma-lyase deficiency syndrome | cystathioninuria | Cystathioninuria | MONDO:0009058 | DOID:0090142 | SNOMEDCT ID:13003007 | CTH - Cystathioninuria | UMLS ID:C0220993 | OMIM ID:219500 | Cystathioninuria (disorder) +BMGC_DS04178,BMG_DS006099,Hyperammonaemia | Hyperammonemia (disorder) | SNOMEDCT ID:9360008 | SNOMEDCT ID:190717000 | Hyperammonemia | UMLS ID:C0220994 +BMGC_DS04179,BMG_DS006101,Tertiary hypothyroidism | UMLS ID:C0220998 | Hypothalamic hypothyroidism | Hypothyroidism due to TRH deficiency | MONDO:0010140 | OMIM ID:275120 | isolated thyrotropin-releasing hormone deficiency | SNOMEDCT ID:37429009 | Hypothalamic hypothyroidism (disorder) +BMGC_DS04180,BMG_DS006102,"MeSH ID:D049950 | UMLS ID:C0221002 | primary hyperparathyroidism | DOID:11202 | MONDO:0010837 | Hyperparathyroidism, Primary" +BMGC_DS04181,BMG_DS006103,Mauriac's syndrome | MONDO:0022435 | Mauriac syndrome | Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome | SNOMEDCT ID:80660001 | Mauriac's syndrome (disorder) | UMLS ID:C0221005 +BMGC_DS04182,BMG_DS006106,OMIM ID:602248 | UMLS ID:C0221011 | malignant atrophic papulosis | Malignant Atrophic Papulosis | MeSH ID:D054853 | MONDO:0011208 +BMGC_DS04183,BMG_DS006108,DOID:349 | UMLS ID:C0221013 | MONDO:0016586 | systemic mastocytosis +BMGC_DS04184,BMG_DS006112,Hemoglobin S/beta thalassemia | SNOMEDCT ID:127041004 | Double heterozygous for Hb S and beta thalassemia | Haemoglobin S/beta thalassaemia | Sickle cell-beta-thalassemia | Double heterozygous for Hb S and beta thalassaemia | Thalassemia with hemoglobin S disease | UMLS ID:C0221019 | Sickle cell-beta-thalassemia (disorder) | Thalassaemia with haemoglobin S disease | Sickle cell-beta-thalassaemia +BMGC_DS04185,BMG_DS006113,Hemoglobin C-F disease | Thalassemia-hemoglobin C disease | SNOMEDCT ID:61777009 | Haemoglobin C-F disease | hemoglobin C-beta-thalassemia syndrome | UMLS ID:C0221020 | Thalassemia-hemoglobin C disease (disorder) | Thalassaemia-haemoglobin C disease | MONDO:0016490 +BMGC_DS04186,BMG_DS006116,Cyclic neutropenia | OMIM ID:162800 | MeSH ID:C536227 | DOID:5339 | Cyclic neutropenia (disorder) | MONDO:0008090 | Periodic neutropenia | cyclic hematopoiesis | SNOMEDCT ID:69295006 | UMLS ID:C0221023 | ICD10 ID:D70.4 +BMGC_DS04187,BMG_DS006117,Kasabach Merritt syndrome | UMLS ID:C0221025 | OMIM ID:141000 | Thrombocytopenia-haemangioma syndrome | Thrombocytopenia-hemangioma syndrome | MONDO:0007708 | Hemangiomatosis with thrombocytopenia | Kasabach-Merritt syndrome (disorder) | SNOMEDCT ID:86635005 | OMIM ID:MTHU041322 | Hemangioma-hemorrhage syndrome | Haemangiomatosis with thrombocytopenia | Haemangioma-haemorrhage syndrome | Kasabach-Merritt syndrome +BMGC_DS04188,BMG_DS006118,UMLS ID:C0221026 | Bruton tyrosine kinase deficiency | X-linked agammaglobulinaemia | MeSH ID:C537409 | Bruton-type agammaglobulinemia | Bruton's hypogammaglobulinaemia | DOID:14179 | Bruton's agammaglobulinaemia | X linked agammaglobulinemia | X linked agammaglobulinaemia | XLA - X-linked agammaglobulinemia | XLA - X-linked agammaglobulinaemia | MONDO:0010421 | OMIM ID:300755 | X-linked agammaglobulinemia (disorder) | Bruton's agammaglobulinemia | Bruton's type agammaglobulinemia | BTK-deficiency | X-linked agammaglobulinemia | Bruton's type agammaglobulinaemia | Bruton's hypogammaglobulinemia | SNOMEDCT ID:65880007 +BMGC_DS04189,BMG_DS006122,Familial generalized lipodystrophy (disorder) | Generalized lipodystrophy | Generalised lipodystrophy | Familial lipodystrophic diabetes | Total lipodystrophy AND acromegaloid gigantism | Berardinelli-Seip syndrome | Familial generalized lipodystrophy | Lipodystrophy of Berardinelli | Berardinelli lipodystrophy syndrome | Familial generalised lipodystrophy | Lipodystrophy with muscular hypertrophy | Congenital lipodystrophy | SNOMEDCT ID:286289004 | congenital generalized lipodystrophy | MONDO:0006536 | Congenital lipodystrophic diabetes | UMLS ID:C0221032 | SNOMEDCT ID:35824007 | Congenital lipoatrophic diabetes +BMGC_DS04190,BMG_DS006125,"Hereditary acrodermatitis enteropathica (disorder) | Danbolt-Closs syndrome | OMIM ID:MTHU077546 | DOID:0050605 | Brandt syndrome | Hereditary acrodermatitis enterohepatica | ICD10 ID:E83.2 | Danbolt-Close syndrome | Disorders of zinc metabolism, unspecified | UMLS ID:C0221036 | Primary zinc malabsorption syndrome | AE - Acrodermatitis enteropathica | MeSH ID:C538178 | MONDO:0008713 | OMIM ID:201100 | ICD11 ID:5C64.2Z | SNOMEDCT ID:37702000 | Acrodermatitis enteropathica | acrodermatitis enteropathica | Primary zinc malabsorption | Hereditary acrodermatitis enteropathica" +BMGC_DS04191,BMG_DS006130,MeSH ID:D056929 | UMLS ID:C0221043 | Liddle syndrome | DOID:0050477 | MONDO:0008323 | Liddle Syndrome +BMGC_DS04192,BMG_DS006131,high output heart failure | SNOMEDCT ID:10091002 | MONDO:0005253 | ICD10 ID:I50.83 | UMLS ID:C0221045 | High output heart failure (disorder) | High output heart failure +BMGC_DS04193,BMG_DS006132,"UMLS ID:C0221046 | Syncope, Carotid Sinus | Syncope | MeSH ID:D013575" +BMGC_DS04194,BMG_DS006135,UMLS ID:C0221052 | Chronic beryllium disease | Chronic beryllium poisoning | Beryllium granuloma | Chronic beryllium lung | chronic beryllium disease | MONDO:0015274 | Chronic berylliosis | Chronic beryllium lung disease | Chronic berylliosis (disorder) | SNOMEDCT ID:18121009 +BMGC_DS04195,BMG_DS006137,"UMLS ID:C0221054 | Welander Distal Myopathy | Distal Myopathies | distal myopathy, Welander type | MONDO:0011466 | OMIM ID:604454 | MeSH ID:D049310" +BMGC_DS04196,BMG_DS006138,OMIM ID:168300 | MONDO:0008195 | DOID:0111538 | UMLS ID:C0221055 | paramyotonia congenita of Von Eulenburg +BMGC_DS04197,BMG_DS006142,Neuromyelitis optica | Subacute myelo-optic neuropathy | Optic neuromyelitis | SNOMEDCT ID:25044007 | UMLS ID:C0221059 | SMON - subacute myelo-optico-neuropathy | Devic's disease | Devic syndrome | Neuromyelitis optica (disorder) +BMGC_DS04198,BMG_DS006143,Moebius syndrome | MeSH ID:D020331 | MONDO:0008006 | Mobius Syndrome | Mobius syndrome | DOID:13501 | UMLS ID:C0221060 | OMIM ID:157900 +BMGC_DS04199,BMG_DS006144,Behr's syndrome I | MeSH ID:C537669 | OMIM ID:210000 | Behr syndrome | Behr syndrome (disorder) | Infantile hereditary optic atrophy with neurological abnormality | UMLS ID:C0221061 | DOID:0111580 | Infantile optic atrophy-ataxia | Abortive cerebellar ataxia (disorder) | SNOMEDCT ID:66988006 | SNOMEDCT ID:718221007 | MONDO:0008858 | Abortive cerebellar ataxia +BMGC_DS04200,BMG_DS006145,Subacute Combined Degeneration | UMLS ID:C0221065 | MeSH ID:D052879 +BMGC_DS04201,BMG_DS006146,DOID:6712 | MeSH ID:D020759 | UMLS ID:C0221069 | Anterior Spinal Artery Syndrome | MONDO:0006650 | anterior spinal artery syndrome +BMGC_DS04202,BMG_DS006147,DOID:9478 | MONDO:0005929 | postpartum depression | UMLS ID:C0221074 +BMGC_DS04203,BMG_DS006151,SNOMEDCT ID:23130000 | UMLS ID:C0221154 | Paroxysmal hypertension (disorder) | Paroxysmal hypertension | Episodic hypertension +BMGC_DS04204,BMG_DS006153,MONDO:0017988 | UMLS ID:C0221158 | multifocal atrial tachycardia +BMGC_DS04205,BMG_DS006154,Motor Disorders | MeSH ID:D000068079 | UMLS ID:C0221163 +BMGC_DS04206,BMG_DS006157,UMLS ID:C0221169 | MeSH ID:D020820 | Body of Luys syndrome | Hemiballism (abnormal involuntary movements) | Hemiballism | Dyskinesias | SNOMEDCT ID:66637005 | Hemiballismus | Hemiballism (disorder) | Hemiballismus-hemichorea syndrome +BMGC_DS04207,BMG_DS006159,UMLS ID:C0221210 | MONDO:0008666 | volvulus of midgut | OMIM ID:193250 +BMGC_DS04208,BMG_DS006163,UMLS ID:C0221227 | Centriacinar Emphysema | MeSH ID:D011656 | Pulmonary Emphysema +BMGC_DS04209,BMG_DS006168,"(Sore lip) or (angular stomatitis &/or cheilitis) (disorder) | Angular cheilitis | Angular stomatitis | SNOMEDCT ID:196554004 | Intertrigo labialis | Perlèche | UMLS ID:C0221237 | ICD10 ID:K13.0 | OMIM ID:MTHU051337 | Angular cheilitis (disorder) | SNOMEDCT ID:155662001 | SNOMEDCT ID:200729007 | Perleche | Angular cheilosis | Angular stomatitis and cheilitis | Disorder of lips, unspecified | Sore lip | Migrating cheilosis | SNOMEDCT ID:266429005 | (Sore lip) or (angular stomatitis &/or cheilitis) | Perlèche (disorder) | MONDO:0000741 | ICD11 ID:DA00.Z | DOID:0060312 | angular cheilitis | SNOMEDCT ID:81670006" +BMGC_DS04210,BMG_DS006169,SNOMEDCT ID:35546006 | Mesangioproliferative glomerulonephritis | mesangial proliferative glomerulonephritis | DOID:4783 | Mesangial proliferative glomerulonephritis | MONDO:0003139 | OMIM ID:MTHU069083 | Mesangial proliferative glomerulonephritis (disorder) | UMLS ID:C0221238 +BMGC_DS04211,BMG_DS006170,DOID:4776 | Idiopathic crescentic glomerulonephritis (disorder) | SNOMEDCT ID:236392004 | Rapidly progressive glomerulonephritis | RPGN - Rapidly progressive glomerulonephritis | rapidly progressive glomerulonephritis | MONDO:0017236 | Idiopathic crescentic glomerulonephritis | Rapidly progressive glomerulonephritis (disorder) | SNOMEDCT ID:45406000 | UMLS ID:C0221239 +BMGC_DS04212,BMG_DS006173,Pityriasis streptogenes | SNOMEDCT ID:200763009 | SNOMEDCT ID:156329007 | seborrheic infantile dermatitis | Seborrhoeic eczema of scalp | Seborrheic eczema of scalp | SNOMEDCT ID:156327009 | UMLS ID:C0221244 | Pityriasis capitis | Seborrhoeic dermatitis of scalp | Scurfiness of scalp (disorder) | Scurfiness of scalp | Seborrheic dermatitis of scalp (disorder) | DOID:8941 | Seborrhoea capitis | Seborrhoea sicca | Seborrhea capitis | Seborrheic dermatitis of scalp | Dandruff | Seborrhea sicca | Pityriasis simplex | Pityriasis sicca | Scurf | SNOMEDCT ID:48596006 | Seborrhoeic dermatitis of scalp (disorder) +BMGC_DS04213,BMG_DS006176,Ingrowing hair | SNOMEDCT ID:267864001 | Wuchereria infestation | MeSH ID:D058457 | SNOMEDCT ID:60332004 | Trichiasis - eyelid | UMLS ID:C0221259 | Hair/hair follicle disease NOS | Entropion &/or trichiasis of eyelid (disorder) | Trichiasis (disorder) | Entropion &/or trichiasis of eyelid | (Hair/hair follicle disease NOS) or (ingrowing hair) or (trichiasis) or (Wuchereria infestation) (disorder) | Entropion and trichiasis of eyelid | Trichiasis | Malposition of eyelashes | SNOMEDCT ID:156412005 | (Hair/hair follicle disease NOS) or (ingrowing hair) or (trichiasis) or (Wuchereria infestation) | SNOMEDCT ID:193927000 | OMIM ID:MTHU017606 +BMGC_DS04214,BMG_DS006177,Onychodystrophy | Dystrophia unguium (disorder) | UMLS ID:C0221260 | Dystrophia unguium | Nail dystrophy | SNOMEDCT ID:87065009 | Dystrophic nail +BMGC_DS04215,BMG_DS006178,Poliosis | OMIM ID:MTHU014000 | SNOMEDCT ID:14240001 | Poliosis (disorder) | UMLS ID:C0221262 +BMGC_DS04216,BMG_DS006182,OMIM ID:MTHU015861 | ICD10 ID:L87.2 | Elastosis perforans | Elastosis perforans serpiginosa (disorder) | Perforating elastosis | SNOMEDCT ID:238876005 | elastosis perforans serpiginosa | Perforating elastoma | MONDO:0007529 | Keratosis follicularis serpiginosa | MeSH ID:C536202 | SNOMEDCT ID:49428008 | Elastosis perforans serpiginosa | UMLS ID:C0221271 | Miescher's elastoma | SNOMEDCT ID:201333007 | OMIM ID:130100 | Other specified perforating dermatoses | ICD11 ID:EE70.Y | Perforating serpiginous elastosis +BMGC_DS04217,BMG_DS006184,Benign polycythemia due to fall in plasma volume | Benign polycythaemia due to fall in plasma volume | Benign polycythemia | SNOMEDCT ID:35326002 | Benign polycythaemia | SNOMEDCT ID:389147003 | Spurious polycythemia | Spurious polycythaemia | Pseudo-polycythaemia | Relative erythrocytosis (disorder) | Gaisbock's syndrome | Relative polycythemia (disorder) | Relative polycythaemia | Relative erythrocytosis | UMLS ID:C0221276 | Relative polycythemia +BMGC_DS04218,BMG_DS006185,UMLS ID:C0221286 | penis Paget's disease | Paget disease of the penis | MONDO:0002653 | DOID:3448 +BMGC_DS04219,BMG_DS006187,"UMLS ID:C0221289 | Benign synovioma | Synovioma, benign | SNOMEDCT ID:5178002 | nodular tenosynovitis | benign synovial neoplasm | DOID:2701 | Synovioma, benign (morphologic abnormality) | MONDO:0024715" +BMGC_DS04220,BMG_DS006188,MONDO:0018447 | chondromyxoid fibroma | UMLS ID:C0221290 +BMGC_DS04221,BMG_DS006190,SNOMEDCT ID:400211001 | Hereditary lymphoedema and yellow nails | OMIM ID:153300 | Yellow nail syndrome | Hereditary lymphedema and yellow nails (disorder) | UMLS ID:C0221348 | Hereditary lymphedema and yellow nails | DOID:0050468 | yellow nail syndrome | MONDO:0007921 +BMGC_DS04222,BMG_DS006191,MONDO:0016608 | UMLS ID:C0221355 | megalencephaly +BMGC_DS04223,BMG_DS006192,UMLS ID:C0221357 | brachydactyly | MONDO:0021004 +BMGC_DS04224,BMG_DS006193,UMLS ID:C0221363 | MONDO:0000110 | bifid nose +BMGC_DS04225,BMG_DS006204,"UMLS ID:C0221390 | DOID:0060068 | MONDO:0000610 | MeSH ID:D059905 | marantic endocarditis | Endocarditis, Non-Infective | Non-Bacterial Thrombotic Endocarditis | nonbacterial thrombotic endocarditis" +BMGC_DS04226,BMG_DS006206,MeSH ID:D059268 | UMLS ID:C0221392 | Atrophic Vaginitis +BMGC_DS04227,BMG_DS006209,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 | SNOMEDCT ID:89476005 | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | UMLS ID:C0221405 | 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 | hypogonadotropic hypogonadism 6 with or without anosmia | Pituitary cachexia (disorder) | isolated growth hormone deficiency type IA | Hypopituitarism | isolated growth hormone deficiency type III | Pituitary cachexia | 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 | ICD10 ID:E23.0 | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | ICD11 ID:5A61.0 | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia +BMGC_DS04228,BMG_DS006210,MONDO:0009050 | Pituitary dependent hypercortisolism | Pituitarydependent Cushing disease | Pituitary-dependent Cushing's disease | Pituitary Cushing syndrome | OMIM ID:219090 | SNOMEDCT ID:190502001 | Cushing disease | Pituitary-dependent Cushing's disease (disorder) | Cushing basophilism | Cushing's disease | Pituitary dependent Cushing disease | DOID:3946 | UMLS ID:C0221406 | Pituitary hyperadrenal corticism | ICD11 ID:5A70.0 | ICD10 ID:E24.0 | pituitary-dependent Cushing's disease | Cushing disease due to pituitary adenoma +BMGC_DS04229,BMG_DS006213,Vitamin D-dependent rickets | SNOMEDCT ID:68295002 | vitamin D-dependent rickets | UMLS ID:C0221468 | Vitamin D-dependent rickets (disorder) | VDDR - vitamin D-dependent rickets | MONDO:0024299 | DOID:0080883 +BMGC_DS04230,BMG_DS006215,alpha 1-Antitrypsin Deficiency | UMLS ID:C0221757 | MONDO:0013282 | OMIM ID:613490 | MeSH ID:D019896 | DOID:13372 | alpha 1-antitrypsin deficiency +BMGC_DS04231,BMG_DS006216,UMLS ID:C0221759 | DOID:3689 | MeSH ID:D020968 | Brachial Plexus Neuritis | brachial plexus neuritis | MONDO:0006682 +BMGC_DS04232,BMG_DS006221,UMLS ID:C0221777 | DOID:13195 | nontoxic goiter | MONDO:0001658 +BMGC_DS04233,BMG_DS006222,vaginal discharge | DOID:3767 | MONDO:0002770 | UMLS ID:C0227791 +BMGC_DS04234,BMG_DS006230,Adult premature aging syndrome | Progeria syndrome | Premature ageing syndrome | Premature aging syndrome (disorder) | MONDO:0019303 | SNOMEDCT ID:190590004 | premature aging syndrome | Premature aging syndrome | Progeria | SNOMEDCT ID:399959003 | UMLS ID:C0231341 | Progeria (disorder) | Adult premature ageing syndrome +BMGC_DS04235,BMG_DS006270,Postural proteinuria | Orthostatic proteinuria (disorder) | DOID:9617 | Orthostatic proteinuria | SNOMEDCT ID:32482005 | SNOMEDCT ID:155874000 | Postural albuminuria | UMLS ID:C0232867 | orthostatic proteinuria | MONDO:0004838 | Orthostatic albuminuria | Benign postural proteinuria | Orthostatic proteinuria (finding) +BMGC_DS04236,BMG_DS006298,UMLS ID:C0232939 | Primary physiologic amenorrhoea | Primary physiologic amenorrhea (finding) | Primary physiologic amenorrhea | SNOMEDCT ID:8913004 +BMGC_DS04237,BMG_DS006299,Secondary physiologic amenorrhoea | SNOMEDCT ID:86030004 | Secondary physiologic amenorrhea | UMLS ID:C0232940 | Secondary physiologic amenorrhea (finding) +BMGC_DS04238,BMG_DS006304,OMIM ID:270960 | spermatogenic failure 4 | UMLS ID:C0232981 | MONDO:0010052 +BMGC_DS04239,BMG_DS006325,DOID:600 | UMLS ID:C0233711 | animal phobia | MONDO:0003727 +BMGC_DS04240,BMG_DS006327,anterograde amnesia | UMLS ID:C0233795 | MONDO:0003398 | DOID:5340 +BMGC_DS04241,BMG_DS006342,hyperekplexia | UMLS ID:C0234166 | MONDO:0017658 +BMGC_DS04242,BMG_DS006346,"MeSH ID:D009437 | Neuralgia | UMLS ID:C0234247 | Neuralgia, Atypical" +BMGC_DS04243,BMG_DS006347,"Neuralgia, Stump | UMLS ID:C0234249 | MeSH ID:D009437 | Neuralgia" +BMGC_DS04244,BMG_DS006355,"MeSH ID:D013651 | Taste Disorders | UMLS ID:C0234297 | Taste Disorder, Primary" +BMGC_DS04245,BMG_DS006356,"UMLS ID:C0234298 | MeSH ID:D013651 | Taste Disorder, Primary, Sweet | Taste Disorders" +BMGC_DS04246,BMG_DS006357,"Taste Disorder, Primary, Salt | MeSH ID:D013651 | Taste Disorders | UMLS ID:C0234299" +BMGC_DS04247,BMG_DS006358,"UMLS ID:C0234300 | Taste Disorder, Primary, Bitter | MeSH ID:D013651 | Taste Disorders" +BMGC_DS04248,BMG_DS006360,"Taste Disorders | MeSH ID:D013651 | UMLS ID:C0234302 | Taste Disorder, Anterior Tongue" +BMGC_DS04249,BMG_DS006361,"MeSH ID:D013651 | Taste Disorders | UMLS ID:C0234303 | Taste Disorder, Secondary" +BMGC_DS04250,BMG_DS006362,"MeSH ID:D013651 | Taste Disorders | UMLS ID:C0234304 | Taste Disorder, Secondary, Sweet" +BMGC_DS04251,BMG_DS006363,"MeSH ID:D013651 | Taste Disorder, Secondary, Salt | UMLS ID:C0234305 | Taste Disorders" +BMGC_DS04252,BMG_DS006364,"MeSH ID:D013651 | Taste Disorders | UMLS ID:C0234306 | Taste Disorder, Secondary, Bitter" +BMGC_DS04253,BMG_DS006367,"MeSH ID:D013651 | Taste Disorder, Posterior Tongue | UMLS ID:C0234319 | Taste Disorders" +BMGC_DS04254,BMG_DS006370,"Vagus Nerve Diseases | Motor Disorder, Vagus Nerve | MeSH ID:D020421 | UMLS ID:C0234329" +BMGC_DS04255,BMG_DS006371,"UMLS ID:C0234331 | Sensory Disorder, Vagus Nerve | MeSH ID:D020421 | Vagus Nerve Diseases" +BMGC_DS04256,BMG_DS006381,MONDO:0003584 | visual cortex disease | UMLS ID:C0234398 | visual cortex disorder | DOID:5691 +BMGC_DS04257,BMG_DS006395,DOID:4970 | MONDO:0003227 | UMLS ID:C0234512 | prosopagnosia +BMGC_DS04258,BMG_DS006396,DOID:4627 | ideomotor apraxia | MONDO:0006800 | UMLS ID:C0234523 +BMGC_DS04259,BMG_DS006397,OMIM ID:MTHU009234 | Generalized seizures | UMLS ID:C0234533 +BMGC_DS04260,BMG_DS006399,UMLS ID:C0234535 | Clonic Seizures | Seizures | MeSH ID:D012640 +BMGC_DS04261,BMG_DS006419,"UMLS ID:C0234757 | MeSH ID:D014717 | Vertigo | Vertigo, Brain Stem" +BMGC_DS04262,BMG_DS006420,UMLS ID:C0234894 | DOID:4399 | MONDO:0006521 | acneiform dermatitis +BMGC_DS04263,BMG_DS006421,annular erythema | MONDO:0007128 | OMIM ID:106500 | Annular Erythema | MeSH ID:C562461 | UMLS ID:C0234906 +BMGC_DS04264,BMG_DS006426,"UMLS ID:C0234974 | MeSH ID:D004828 | Epilepsies, Partial | Simple Partial Seizures" +BMGC_DS04265,BMG_DS006427,primary motor cortex epilepsy | Motor cortex epilepsy | Primary motor cortex frontal lobe epilepsy | MONDO:0041284 | SNOMEDCT ID:267592003 | Primary motor cortex frontal lobe epilepsy (disorder) | UMLS ID:C0234978 +BMGC_DS04266,BMG_DS006429,DOID:683 | Motor neuritis | SNOMEDCT ID:95663000 | Peripheral motor neuropathy | MONDO:0004004 | Motor peripheral neuropathy | motor nerve neuritis | OMIM ID:MTHU041529 | motor neuritis | Peripheral motor neuropathy (disorder) | UMLS ID:C0235025 +BMGC_DS04267,BMG_DS006430,"Neuritis | UMLS ID:C0235026 | MeSH ID:D009443 | Neuritis, Sensory" +BMGC_DS04268,BMG_DS006431,toxic encephalopathy | UMLS ID:C0235032 | DOID:3602 +BMGC_DS04269,BMG_DS006435,Accommodative paresis | Paralysis of accommodation | Cycloplegic paralysis of accommodation | cycloplegia | MONDO:0005555 | DOID:10033 | Paresis of accommodation | SNOMEDCT ID:68158006 | Ciliary muscle paresis | UMLS ID:C0235238 | Visual accommodation paralysis | Cycloplegia | Loss of accommodation | Cycloplegia (disorder) +BMGC_DS04270,BMG_DS006436,OMIM ID:MTHU012241 | keratopathy | Keratopathy | DOID:2283 | UMLS ID:C0235270 | MONDO:0002261 +BMGC_DS04271,BMG_DS006445,Granulomatous hepatitis | DOID:2239 | SNOMEDCT ID:86514004 | UMLS ID:C0235369 | Granulomatous hepatitis (disorder) | OMIM ID:MTHU074778 | MONDO:0002252 | granulomatous hepatitis +BMGC_DS04272,BMG_DS006447,Ketonemia | SNOMEDCT ID:45317003 | Ketonaemia | MeSH ID:D007662 | OMIM ID:MTHU012717 | Ketosis | UMLS ID:C0235430 | Ketonemia (disorder) | SNOMEDCT ID:213281004 +BMGC_DS04273,BMG_DS006451,SNOMEDCT ID:195081002 | PAF - Paroxysmal atrial fibrillation | SNOMEDCT ID:282825002 | paroxysmal atrial fibrillation | ICD10 ID:I48.0 | Paroxysmal atrial fibrillation | Paroxysmal atrial fibrillation (disorder) | UMLS ID:C0235480 | MONDO:1030011 | ICD11 ID:BC81.30 | AF - Paroxysmal atrial fibrillation | OMIM ID:MTHU046471 | Intermittent atrial fibrillation +BMGC_DS04274,BMG_DS006453,peripheral ischemia | UMLS ID:C0235490 | MONDO:0041114 +BMGC_DS04275,BMG_DS006458,"Heart Failure, Right-Sided | UMLS ID:C0235527 | MeSH ID:D006333 | Heart Failure" +BMGC_DS04276,BMG_DS006463,submandibular adenitis | MONDO:0003066 | SNOMEDCT ID:15170009 | Submandibular lymphadenitis | UMLS ID:C0235591 | Submandibular lymphadenitis (disorder) | Submandibular adenitis | DOID:4636 +BMGC_DS04277,BMG_DS006464,SNOMEDCT ID:127086001 | OMIM ID:MTHU033335 | Cervical lymphadenopathy | Cervical lymphadenopathy (disorder) | UMLS ID:C0235592 +BMGC_DS04278,BMG_DS006466,UMLS ID:C0235604 | DOID:11125 | qualitative platelet defect | MONDO:0001197 +BMGC_DS04279,BMG_DS006467,proliferative glomerulonephritis | UMLS ID:C0235618 | MONDO:0003134 | DOID:4778 | Proliferative glomerulonephritis (disorder) | Proliferative glomerulonephritis | SNOMEDCT ID:441815006 +BMGC_DS04280,BMG_DS006471,urothelial papilloma | DOID:6933 | UMLS ID:C0235754 | MONDO:0004041 | bladder transitional cell papilloma +BMGC_DS04281,BMG_DS006473,UMLS ID:C0235770 | DOID:2145 | MONDO:0002224 | malignant ovarian cyst +BMGC_DS04282,BMG_DS006474,MONDO:0003220 | UMLS ID:C0235782 | DOID:4948 | gallbladder carcinoma +BMGC_DS04283,BMG_DS006476,MONDO:0004354 | neonatal leukemia | DOID:7756 | UMLS ID:C0235813 +BMGC_DS04284,BMG_DS006477,MONDO:0001791 | UMLS ID:C0235815 | Neonatal urinary tract infection (disorder) | neonatal urinary tract infectious disease | DOID:1375 | Neonatal urinary tract infection | ICD10 ID:P39.3 | ICD11 ID:KA65.2 | SNOMEDCT ID:12301009 +BMGC_DS04285,BMG_DS006478,UMLS ID:C0235820 | SNOMEDCT ID:95628005 | ICD10 ID:P91.81 | Neonatal encephalopathy (disorder) | Neonatal encephalopathy +BMGC_DS04286,BMG_DS006479,congenital diaphragmatic hernia | UMLS ID:C0235833 | MONDO:0005711 +BMGC_DS04287,BMG_DS006481,(Neonatal diarrhoea) or (neonatal chloridorrhoea) (disorder) | OMIM ID:MTHU013422 | Neonatal diarrhea | UMLS ID:C0235840 | (Neonatal diarrhoea) or (neonatal chloridorrhoea) | SNOMEDCT ID:206534003 | Neonatal chloridorrhea | Neonatal diarrhea (disorder) | Neonatal chloridorrhoea | (Neonatal diarrhea) or (neonatal chloridorrhea) | Neonatal diarrhoea | SNOMEDCT ID:268850004 +BMGC_DS04288,BMG_DS006485,MONDO:0016381 | UMLS ID:C0235864 | hypertrichosis lanuginosa congenita | OMIM ID:145700 +BMGC_DS04289,BMG_DS006486,Mononeuropathies | Mononeuritis (disorder) | MONDO:0002121 | Mononeuritis | MeSH ID:D020422 | DOID:1802 | mononeuritis | UMLS ID:C0235880 | SNOMEDCT ID:32595002 | mononeuritis simplex +BMGC_DS04290,BMG_DS006493,Cerebral atrophy (disorder) | Cerebral degeneration NOS | Cerebral atrophy | UMLS ID:C0235946 | Cerebral degeneration: [NOS] or [cerebral atrophy] | OMIM ID:MTHU000199 | SNOMEDCT ID:278849000 | SNOMEDCT ID:192824002 | Cerebral degeneration: [NOS] or [cerebral atrophy] (disorder) +BMGC_DS04291,BMG_DS006494,OMIM ID:MTHU056020 | Zinc deficiency (disorder) | UMLS ID:C0235950 | SNOMEDCT ID:367102002 | Zinc deficiency | SNOMEDCT ID:238124008 +BMGC_DS04292,BMG_DS006495,UMLS ID:C0235952 | Clostridium difficile diarrhea (disorder) | Clostridium difficile diarrhoea | Clostridium difficile diarrhea | 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 | MeSH ID:C536525 | SNOMEDCT ID:17231009 | Foetal valproate spectrum disorder | Fetal valproate spectrum disorder | DOID:0060471 | Fetal valproate syndrome (disorder) | UMLS ID:C0236026 | Fetal valproate syndrome | MONDO:0012275 | SNOMEDCT ID:205792006 | OMIM ID:609442 +BMGC_DS04295,BMG_DS006505,UMLS ID:C0236038 | SNOMEDCT ID:95827002 | Congenital hearing disorder (disorder) | Congenital hearing disorder +BMGC_DS04296,BMG_DS006506,"Polyposis, Gastric | UMLS ID:C0236048 | MeSH ID:C562464 | stomach polyp | MONDO:0008277" +BMGC_DS04297,BMG_DS006512,Gastrointestinal obstruction (disorder) | Gastrointestinal obstruction | OMIM ID:MTHU023933 | UMLS ID:C0236124 | SNOMEDCT ID:126765001 +BMGC_DS04298,BMG_DS006514,Pick disease | MeSH ID:D020774 | OMIM ID:172700 | Pick's disease | DOID:11870 | UMLS ID:C0236642 | Pick Disease of the Brain | MONDO:0008243 +BMGC_DS04299,BMG_DS006516,SNOMEDCT ID:268745002 | Korsakov psychosis | SNOMEDCT ID:154854002 | Other alcoholic psychoses | Alcohol withdrawal | alcohol withdrawal | Korsakov's psychosis | MONDO:0005433 | (Alcoholic psychosis: [Korsakov's] or [other]) or (withdrawal syndrome - alcohol) (disorder) | Alcohol withdrawal syndrome | Withdrawal syndrome - alcohol | UMLS ID:C0236663 | (Alcoholic psychosis: [Korsakov's] or [other]) or (withdrawal syndrome - alcohol) | SNOMEDCT ID:191480000 | Alcohol withdrawal syndrome (disorder) +BMGC_DS04300,BMG_DS006517,MONDO:0021698 | alcohol-related disorders | Alcohol-Related Disorders | UMLS ID:C0236664 | Alcohol Related Disorders | MeSH ID:D019973 +BMGC_DS04301,BMG_DS006519,UMLS ID:C0236735 | MeSH ID:D002189 | Cannabis-Related Disorder | Marijuana Abuse +BMGC_DS04302,BMG_DS006520,UMLS ID:C0236773 | DOID:14042 | bipolar I disorder +BMGC_DS04303,BMG_DS006521,DOID:3312 | UMLS ID:C0236780 | bipolar disorder +BMGC_DS04304,BMG_DS006522,bipolar II disorder | UMLS ID:C0236788 | MONDO:0000693 +BMGC_DS04305,BMG_DS006523,DOID:13487 | childhood disintegrative disease | MONDO:0015681 | childhood disintegrative disorder | UMLS ID:C0236791 +BMGC_DS04306,BMG_DS006524,MONDO:0005259 | UMLS ID:C0236792 | DOID:0050432 | Asperger syndrome +BMGC_DS04307,BMG_DS006526,DOID:11037 | MONDO:0001185 | UMLS ID:C0236795 | dissociative amnesia +BMGC_DS04308,BMG_DS006528,specific phobia | DOID:599 | UMLS ID:C0236801 | MONDO:0012000 | OMIM ID:608251 +BMGC_DS04309,BMG_DS006531,Chronobiology Disorders | MeSH ID:D021081 | UMLS ID:C0236811 +BMGC_DS04310,BMG_DS006533,MONDO:0001276 | DOID:11385 | UMLS ID:C0236826 | expressive language disorder +BMGC_DS04311,BMG_DS006534,DOID:12685 | mixed receptive-expressive language disorder | UMLS ID:C0236827 | MONDO:0001568 +BMGC_DS04312,BMG_DS006535,Neuroleptic-induced parkinsonism | SNOMEDCT ID:72820004 | Parkinsonism caused by neuroleptic drug (disorder) | UMLS ID:C0236830 | Parkinsonism caused by neuroleptic drug +BMGC_DS04313,BMG_DS006542,UMLS ID:C0236969 | substance-related disorder | DOID:303 | MONDO:0002494 +BMGC_DS04314,BMG_DS006543,MeSH ID:D020751 | Alcohol-Induced Disorders | alcohol-induced disorders | UMLS ID:C0236970 | MONDO:0021699 +BMGC_DS04315,BMG_DS006545,MONDO:0008167 | UMLS ID:C0237020 | DOID:5117 | OMIM ID:166950 | dermoid cyst of ovary +BMGC_DS04316,BMG_DS006547,Gastrointestinal ulcer | SNOMEDCT ID:40845000 | UMLS ID:C0237938 | Gastrointestinal ulcer (disorder) +BMGC_DS04317,BMG_DS006551,Toxic amblyopia | MONDO:0041403 | toxic amblyopia | UMLS ID:C0237979 | SNOMEDCT ID:965003 | Toxic amblyopia (disorder) +BMGC_DS04318,BMG_DS006552,Glucose-6-phosphate dehydrogenase deficiency anemia | SNOMEDCT ID:191171008 | G6PD deficiency anaemia | Glucose-6-phosphate dehydrogenase deficiency anaemia | Glucose-6-phosphate dehydrogenase deficiency anemia (disorder) | G-6-PD deficiency anaemia | G6PD deficiency anemia | SNOMEDCT ID:62403005 | UMLS ID:C0237987 | G-6-PD deficiency anemia | Glucose-6-phosphate dehydrogenase deficiency +BMGC_DS04319,BMG_DS006554,DOID:3608 | MONDO:0006087 | appendix adenocarcinoma | UMLS ID:C0238003 +BMGC_DS04320,BMG_DS006556,UMLS ID:C0238013 | Invasive aspergillosis (disorder) | SNOMEDCT ID:721798004 | invasive aspergillosis | MONDO:0000240 | Invasive aspergillosis +BMGC_DS04321,BMG_DS006558,UMLS ID:C0238015 | MONDO:0043975 | MeSH ID:D020211 | Autonomic Dysreflexia | autonomic dysreflexia +BMGC_DS04322,BMG_DS006559,Bartholin gland adenocarcinoma | MONDO:0003853 | Bartholin's gland adenocarcinoma | DOID:6316 | UMLS ID:C0238016 +BMGC_DS04323,BMG_DS006560,MONDO:0003090 | DOID:4682 | extrahepatic bile duct carcinoma | UMLS ID:C0238019 +BMGC_DS04324,BMG_DS006561,"Botulism, Infantile | Botulism | MONDO:0015804 | MeSH ID:D001906 | infant botulism | UMLS ID:C0238027" +BMGC_DS04325,BMG_DS006562,UMLS ID:C0238029 | brain ependymoma | ependymal tumor of brain | DOID:7497 | MONDO:0004245 +BMGC_DS04326,BMG_DS006563,UMLS ID:C0238031 | MONDO:0021047 | DOID:3016 | breast malignant phyllodes tumor | breast phyllodes tumor +BMGC_DS04327,BMG_DS006565,DOID:1626 | MONDO:0021097 | UMLS ID:C0238034 | intraductal breast papilloma | breast duct papilloma +BMGC_DS04328,BMG_DS006567,UMLS ID:C0238044 | Concentric hypertrophic cardiomyopathy | OMIM ID:MTHU068797 +BMGC_DS04329,BMG_DS006570,"Vasculitis, Central Nervous System | Cerebral Angiitis | MeSH ID:D020293 | UMLS ID:C0238051" +BMGC_DS04330,BMG_DS006571,"MONDO:0008948 | MeSH ID:D019294 | UMLS ID:C0238052 | cerebrotendinous xanthomatosis | OMIM ID:213700 | DOID:4810 | Xanthomatosis, Cerebrotendinous" +BMGC_DS04331,BMG_DS006572,"MeSH ID:D002819 | UMLS ID:C0238056 | Chorea, Senile | Chorea" +BMGC_DS04332,BMG_DS006574,SNOMEDCT ID:235828008 | Chronic intestinal pseudo-obstruction (disorder) | Chronic intestinal pseudo-obstruction | chronic intestinal pseudoobstruction | UMLS ID:C0238062 | MONDO:0017574 +BMGC_DS04333,BMG_DS006575,"MeSH ID:D008105 | Liver Cirrhosis, Biliary | Secondary Biliary Cholangitis | UMLS ID:C0238065" +BMGC_DS04334,BMG_DS006576,"UMLS ID:C0238067 | MeSH ID:D046729 | DOID:0060183 | collagenous colitis | Colitis, Collagenous | MONDO:0000703" +BMGC_DS04335,BMG_DS006578,MeSH ID:D020802 | UMLS ID:C0238075 | Cranial Epidural Abscess | Epidural Abscess +BMGC_DS04336,BMG_DS006582,Acute endometritis (disorder) | DOID:7528 | UMLS ID:C0238103 | Acute endometritis | SNOMEDCT ID:155976002 | MONDO:0004265 | acute endometritis | SNOMEDCT ID:67667007 +BMGC_DS04337,BMG_DS006586,UMLS ID:C0238111 | OMIM ID:606369 | OMIM ID:MTHU071842 | Cutis verticis gyrata | SNOMEDCT ID:192984003 | SNOMEDCT ID:51603000 | SNOMEDCT ID:230418006 | Lennox-Gastaut syndrome | Lennox-Gastaut syndrome (disorder) | SNOMEDCT ID:75036009 | MONDO:0016532 | Cutis verticis gyrata (disorder) | ICD10 ID:G40.81 +BMGC_DS04338,BMG_DS006590,Kallman's syndrome | MeSH ID:D005058 | DOID:5003 | UMLS ID:C0238117 | Eunuchism | Kallmann's syndrome | eunuchism | Eunuchism (disorder) | MONDO:0005758 | SNOMEDCT ID:190559001 | (Eunuchism) or (Kallman's syndrome) | SNOMEDCT ID:267403002 +BMGC_DS04339,BMG_DS006592,DOID:1963 | UMLS ID:C0238122 | fallopian tube carcinoma | MONDO:0006206 +BMGC_DS04340,BMG_DS006593,"MONDO:0004835 | Necrotising fasciitis, unspecified | UMLS ID:C0238124 | SNOMEDCT ID:52486002 | Necrotizing fasciitis (disorder) | Necrotising fasciitis | necrotizing fasciitis | ICD10 ID:M72.6 | DOID:9602 | Necrotizing fasciitis | ICD11 ID:1B71.Z | Necrotising fasciitis (disorder) | SNOMEDCT ID:186428007" +BMGC_DS04341,BMG_DS006597,focal embolic glomerulonephritis | UMLS ID:C0238143 | DOID:4779 | MONDO:0003135 +BMGC_DS04342,BMG_DS006599,UMLS ID:C0238152 | DOID:5262 | MONDO:0003354 | heart sarcoma +BMGC_DS04343,BMG_DS006602,Hemoglobin E-E disease | SNOMEDCT ID:25065001 | Hemoglobin E disease | UMLS ID:C0238159 | Homozygous for Hb E | hemoglobin E disease | Hemoglobin E disease (disorder) | MONDO:0016243 | Haemoglobin E disease | DOID:5379 | Haemoglobin E-E disease +BMGC_DS04344,BMG_DS006608,"OMIM ID:147421 | inclusion body myositis | MeSH ID:D018979 | UMLS ID:C0238190 | DOID:3429 | MONDO:0007827 | Myositis, Inclusion Body" +BMGC_DS04345,BMG_DS006609,DOID:4907 | MONDO:0005522 | UMLS ID:C0238196 | small intestine carcinoma +BMGC_DS04346,BMG_DS006610,small intestine leiomyoma | DOID:1738 | UMLS ID:C0238197 | MONDO:0002092 +BMGC_DS04347,BMG_DS006611,UMLS ID:C0238198 | gastrointestinal stromal tumor | OMIM ID:606764 | DOID:9253 | MONDO:0011719 +BMGC_DS04348,BMG_DS006612,MONDO:0003720 | kidney fibrosarcoma | DOID:5982 | UMLS ID:C0238208 +BMGC_DS04349,BMG_DS006616,UMLS ID:C0238246 | liver hemangioma | hemangioma of liver | DOID:271 | MONDO:0002404 +BMGC_DS04350,BMG_DS006618,Hereditary lymphoedema type II | Adolescent lymphedema (disorder) | Meige lymphoedema | UMLS ID:C0238261 | Infantile lymphoedema (praecox) | SNOMEDCT ID:400040008 | Adolescent lymphoedema | Lymphedema praecox (disorder) | Adolescent lymphedema | Hereditary lymphedema type II | Lymphedema praecox | SNOMEDCT ID:77123007 | hereditary lymphedema II | SNOMEDCT ID:234098006 | Lymphoedema praecox | Infantile lymphedema (praecox) | Hereditary lymphedema type II (disorder) | Meige lymphedema | Meige disease | DOID:0070213 +BMGC_DS04351,BMG_DS006619,MONDO:0016370 | MeSH ID:D054319 | Marchiafava-Bignami Disease | Marchiafava-Bignami disease | UMLS ID:C0238265 +BMGC_DS04352,BMG_DS006622,"Middle Cerebral Artery Syndrome | Infarction, Middle Cerebral Artery | MeSH ID:D020244 | UMLS ID:C0238281" +BMGC_DS04353,BMG_DS006624,Mucolipidoses | mucolipidosis type IV | MeSH ID:D009081 | OMIM ID:252650 | MONDO:0009653 | UMLS ID:C0238286 | Mucolipidosis Type IV +BMGC_DS04354,BMG_DS006625,"DOID:11727 | MeSH ID:D020391 | Muscular Dystrophy, Facioscapulohumeral | UMLS ID:C0238288 | facioscapulohumeral muscular dystrophy | MONDO:0001347" +BMGC_DS04355,BMG_DS006626,ICD10 ID:E03.5 | Myxoedema coma | Myxedema coma | Myxedema coma (disorder) | SNOMEDCT ID:21263006 | SNOMEDCT ID:190292006 | Myxoedema coma (disorder) | UMLS ID:C0238298 | ICD11 ID:5A00.21 | Hypothyroid coma +BMGC_DS04356,BMG_DS006627,DOID:9261 | nasopharynx carcinoma | UMLS ID:C0238301 +BMGC_DS04357,BMG_DS006630,DOID:1195 | UMLS ID:C0238309 | Ischemic peripheral neuropathy (disorder) | ischemic neuropathy | Ischemic peripheral neuropathy | MONDO:0001408 | Ischaemic peripheral neuropathy | SNOMEDCT ID:129611009 +BMGC_DS04358,BMG_DS006632,ovarian germ cell tumor | UMLS ID:C0238324 | OMIM ID:603737 | ovarian germ cell cancer | DOID:2156 | MONDO:0011366 +BMGC_DS04359,BMG_DS006633,scrotum Paget's disease | UMLS ID:C0238330 | MONDO:0002649 | DOID:3444 | scrotum Paget disease +BMGC_DS04360,BMG_DS006635,DOID:4073 | MONDO:0002867 | pancreatic cystadenocarcinoma | UMLS ID:C0238337 +BMGC_DS04361,BMG_DS006636,SNOMEDCT ID:68072000 | UMLS ID:C0238339 | OMIM ID:167800 | MeSH ID:C537262 | hereditary chronic pancreatitis | Hereditary pancreatitis (disorder) | Hereditary pancreatitis | MONDO:0008185 +BMGC_DS04362,BMG_DS006638,squamous cell carcinoma of penis | DOID:5518 | MONDO:0018352 | UMLS ID:C0238348 | penis squamous cell carcinoma +BMGC_DS04363,BMG_DS006641,penile sarcoma | UMLS ID:C0238352 | DOID:11838 | penis sarcoma | MONDO:0001387 +BMGC_DS04364,BMG_DS006643,Hyperkalaemic periodic paralysis | Periodic paralysis II | SNOMEDCT ID:278513006 | Familial hyperkalaemic periodic paralysis | Familial hyperkalemic periodic paralysis (disorder) | MONDO:0008224 | DOID:14451 | Hyperkalemic periodic paralysis | Adynamia episodica hereditaria | Myotonic periodic paralysis | hyperkalemic periodic paralysis | SNOMEDCT ID:15973007 | Gamstorp disease | Hyperkalemic periodic paralysis (disorder) | Familial hyperkalemic periodic paralysis | SNOMEDCT ID:304737009 | UMLS ID:C0238357 | OMIM ID:170500 +BMGC_DS04365,BMG_DS006644,MONDO:0008223 | Familial hypokalemic periodic paralysis | Familial hypokalemic periodic paralysis (disorder) | Hypokalaemic periodic paralysis | Familial hypokalaemic periodic paralysis | hypokalemic periodic paralysis | HOKPP - hypokalaemic periodic paralysis | DOID:14452 | HOKPP - hypokalemic periodic paralysis | SNOMEDCT ID:82732003 | UMLS ID:C0238358 | Hypokalemic periodic paralysis | Periodic paralysis I | SNOMEDCT ID:240093008 | Hypokalemic periodic paralysis (disorder) +BMGC_DS04366,BMG_DS006650,Pneumoconiosis caused by talc | Talcosis | Talc workers' pneumoconiosis | pneumoconiosis due to talc | MONDO:0001003 | pulmonary talcosis | UMLS ID:C0238377 | Talc pneumoconiosis | DOID:10329 | SNOMEDCT ID:73144008 | Pneumoconiosis caused by talc (disorder) | Talc lung disease | Pulmonary talcosis +BMGC_DS04367,BMG_DS006651,Desquamative interstitial pneumonitis (disorder) | desquamative interstitial pneumonia | Desquamative interstitial pneumonitis | UMLS ID:C0238378 | DOID:0050158 | ICD10 ID:J84.117 | SNOMEDCT ID:8549006 | MONDO:0009887 | OMIM ID:263000 | Desquamative interstitial pneumonia +BMGC_DS04368,BMG_DS006652,prostate sarcoma | UMLS ID:C0238393 | DOID:4054 | MONDO:0002854 +BMGC_DS04369,BMG_DS006653,Pycnodysostosis (disorder) | DOID:0080038 | MONDO:0009940 | pycnodysostosis | OMIM ID:265800 | MeSH ID:D058631 | SNOMEDCT ID:190939007 | Pycnodysostosis | UMLS ID:C0238402 +BMGC_DS04370,BMG_DS006655,UMLS ID:C0238409 | renal pelvis squamous cell carcinoma | MONDO:0003497 | DOID:5534 +BMGC_DS04371,BMG_DS006659,Selenium deficiency | Selenium deficiency (disorder) | UMLS ID:C0238421 | SNOMEDCT ID:83920001 +BMGC_DS04372,BMG_DS006660,Sickle cell crisis | Hemoglobin SS disease with crisis (disorder) | Sickle cell anemia with crisis | SNOMEDCT ID:417425009 | Hemoglobin SS disease with crisis | Haemoglobin SS disease with crisis | UMLS ID:C0238425 | Sickle cell anaemia with crisis +BMGC_DS04373,BMG_DS006661,MONDO:0003473 | DOID:5503 | spinal cord ependymoma | UMLS ID:C0238432 +BMGC_DS04374,BMG_DS006662,"MeSH ID:D020802 | Epidural Abscess, Spinal | UMLS ID:C0238434 | Epidural Abscess" +BMGC_DS04375,BMG_DS006667,MONDO:0006446 | DOID:5680 | embryonal testis carcinoma | UMLS ID:C0238448 | testicular embryonal carcinoma +BMGC_DS04376,BMG_DS006668,DOID:5551 | MONDO:0003508 | choriocarcinoma of testis | UMLS ID:C0238449 | choriocarcinoma of the testis +BMGC_DS04377,BMG_DS006670,cavernous sinus thrombosis | Cavernous Sinus Thrombosis | DOID:3575 | UMLS ID:C0238454 | MeSH ID:D020226 | MONDO:0002694 +BMGC_DS04378,BMG_DS006672,MONDO:0006468 | UMLS ID:C0238461 | thyroid gland undifferentiated (anaplastic) carcinoma +BMGC_DS04379,BMG_DS006673,medullary thyroid gland carcinoma | UMLS ID:C0238462 | DOID:3973 | MONDO:0015277 | medullary thyroid carcinoma +BMGC_DS04380,BMG_DS006674,papillary thyroid carcinoma | MONDO:0005075 | DOID:3969 | thyroid gland papillary carcinoma | UMLS ID:C0238463 +BMGC_DS04381,BMG_DS006677,Transient erythroblastopenia of childhood | TEC - Transient erythroblastopenia of childhood | OMIM ID:227050 | Transient erythroblastopenia of childhood (disorder) | UMLS ID:C0238478 | transient erythroblastopenia of childhood | SNOMEDCT ID:234375006 | MeSH ID:C536980 | MONDO:0009197 +BMGC_DS04382,BMG_DS006678,UMLS ID:C0238502 | Urethrocele | SNOMEDCT ID:12068006 | Prolapse of urethra | DOID:12369 | Prolapse of urethra (disorder) | prolapse of urethra | Urethrocoele | MONDO:0001514 +BMGC_DS04383,BMG_DS006679,UMLS ID:C0238506 | MONDO:0019640 | posterior urethral valve +BMGC_DS04384,BMG_DS006681,UMLS ID:C0238519 | DOID:1901 | MONDO:0002140 | vagina sarcoma +BMGC_DS04385,BMG_DS006682,UMLS ID:C0238525 | DOID:2096 | vulvar sarcoma | MONDO:0005214 | vulva sarcoma +BMGC_DS04386,BMG_DS006683,Infection by Yersinia enterocolitica | Infection caused by Yersinia enterocolitica (disorder) | UMLS ID:C0238528 | Infection caused by Yersinia enterocolitica | SNOMEDCT ID:80960004 +BMGC_DS04387,BMG_DS006684,SNOMEDCT ID:238872007 | Acrogeria | OMIM ID:MTHU070473 | Gottron's syndrome | UMLS ID:C0238590 | Acrogeria (disorder) +BMGC_DS04388,BMG_DS006685,"Aminoaciduria | SNOMEDCT ID:275781001 | (Urine amino acids) or (aminoaciduria) | Urine amino acids | SNOMEDCT ID:35912001 | SNOMEDCT ID:167535000 | Amino-acids, urine | Aminoaciduria (finding) | Aminoaciduria (disorder) | OMIM ID:MTHU000661 | (Urine amino acids) or (aminoaciduria) (procedure) | UMLS ID:C0238621" +BMGC_DS04389,BMG_DS006689,MONDO:0003428 | brain hemangioma | DOID:5393 | UMLS ID:C0238814 | brain angioma +BMGC_DS04390,BMG_DS006695,Conjunctival telangiectasis (disorder) | Conjunctival telangiectasis | UMLS ID:C0239105 | SNOMEDCT ID:231870008 +BMGC_DS04391,BMG_DS006697,esophageal candidiasis | Candidiasis of esophagus | Candidiasis of the oesophagus | Candidiasis of the esophagus | DOID:13146 | Candidosis of oesophagus | Candida of esophagus | Candidiasis of oesophagus | Candidosis of esophagus | UMLS ID:C0239295 | Candidiasis of the esophagus (disorder) | Oesophageal thrush | MONDO:0001648 | Esophageal thrush | SNOMEDCT ID:20639004 +BMGC_DS04392,BMG_DS006705,"Color Blindness, Green | UMLS ID:C0239777 | MeSH ID:D003117 | Color Vision Defects" +BMGC_DS04393,BMG_DS006708,"Ichthyosis, Lamellar | UMLS ID:C0239849 | Harlequin Fetus | MeSH ID:D017490" +BMGC_DS04394,BMG_DS006709,"Liver Cirrhosis | Fibrosis, Liver | UMLS ID:C0239946 | MeSH ID:D008103" +BMGC_DS04395,BMG_DS006710,UMLS ID:C0239981 | Hypoalbuminemia (disorder) | MeSH ID:D034141 | Hypoalbuminemia | Hypoalbuminaemia | SNOMEDCT ID:119247004 | OMIM ID:MTHU000014 | Serum albumin low +BMGC_DS04396,BMG_DS006711,coloboma of iris | UMLS ID:C0240063 | MONDO:0020356 +BMGC_DS04397,BMG_DS006714,MONDO:0000935 | UMLS ID:C0240164 | larynx squamous papilloma | DOID:10071 +BMGC_DS04398,BMG_DS006718,"UMLS ID:C0240595 | Nystagmus, Pathologic | Rotary Nystagmus | MeSH ID:D009759" +BMGC_DS04399,BMG_DS006723,DOID:5815 | cerebral lymphoma | MONDO:0003655 | UMLS ID:C0240803 +BMGC_DS04400,BMG_DS006725,UMLS ID:C0240903 | MONDO:0043267 | rheumatoid vasculitis | MeSH ID:D056653 | Rheumatoid Vasculitis +BMGC_DS04401,BMG_DS006726,OMIM ID:192950 | MONDO:0008652 | DOID:0111568 | congenital vertical talus | UMLS ID:C0240912 +BMGC_DS04402,BMG_DS006727,sensory ataxia | UMLS ID:C0240991 | MONDO:0100311 +BMGC_DS04403,BMG_DS006728,"UMLS ID:C0241005 | MONDO:0007402 | creatine phosphokinase, elevated serum | OMIM ID:123320" +BMGC_DS04404,BMG_DS006730,Erosion of skin | UMLS ID:C0241069 | Superficial ulcer of skin | Superficial ulcer of skin (disorder) | SNOMEDCT ID:93448009 +BMGC_DS04405,BMG_DS006737,MONDO:0001809 | UMLS ID:C0241593 | adhesions of uterus | DOID:13812 +BMGC_DS04406,BMG_DS006744,MeSH ID:D002561 | Cerebrovascular Disorders | Cerebrovascular Insufficiency | UMLS ID:C0241832 +BMGC_DS04407,BMG_DS006750,"MeSH ID:C562476 | hematuria, benign familial | UMLS ID:C0241908 | Hematuria, Benign Familial | MONDO:0957317" +BMGC_DS04408,BMG_DS006751,"DOID:2048 | Autoimmune Chronic Hepatitis | MeSH ID:D019693 | Hepatitis, Autoimmune | autoimmune hepatitis | UMLS ID:C0241910" +BMGC_DS04409,BMG_DS006755,SNOMEDCT ID:234416002 | X-linked hypogammaglobulinemia | X-linked hypogammaglobulinemia (disorder) | UMLS ID:C0241932 | X-linked hypogammaglobulinaemia +BMGC_DS04410,BMG_DS006758,kidney angiomyolipoma | DOID:8411 | MONDO:0004555 | UMLS ID:C0241961 +BMGC_DS04411,BMG_DS006762,MONDO:0002205 | vulvar melanoma | DOID:2093 | UMLS ID:C0241989 +BMGC_DS04412,BMG_DS006765,UMLS ID:C0242013 | Sciatic Neuropathy | Sciatic Neuritis | MeSH ID:D020426 +BMGC_DS04413,BMG_DS006766,"UMLS ID:C0242032 | MeSH ID:D010195 | Pancreatitis | Pancreatitis, Acute Edematous" +BMGC_DS04414,BMG_DS006770,SNOMEDCT ID:67599009 | Pulmonary congestion (disorder) | UMLS ID:C0242073 | Pulmonary congestion | SNOMEDCT ID:196118009 +BMGC_DS04415,BMG_DS006773,Thrombotic Stroke | UMLS ID:C0242129 | MeSH ID:D000083244 +BMGC_DS04416,BMG_DS006778,MeSH ID:D000292 | UMLS ID:C0242172 | Pelvic Inflammatory Disease | DOID:1003 | MONDO:0000922 | pelvic inflammatory disease +BMGC_DS04417,BMG_DS006779,"UMLS ID:C0242183 | MeSH ID:D007565 | Jaundice, Hemolytic | Jaundice" +BMGC_DS04418,BMG_DS006781,UMLS ID:C0242217 | Chondrocalcinosis | MeSH ID:D002805 | Calcium Pyrophosphate Dihydrate Deposition +BMGC_DS04419,BMG_DS006782,DOID:13399 | Color vision deficiency (disorder) | Color vision deficiency | No color perception | Color blindness | SNOMEDCT ID:155143000 | Colour vision deficiency | ICD11 ID:9D44 | UMLS ID:C0242225 | Colour blindness | Color blindness (disorder) | Impairment of colour vision | No colour perception | ICD10 ID:H53.5 | SNOMEDCT ID:193683001 | SNOMEDCT ID:53481002 | Colour blindness (disorder) | color blindness +BMGC_DS04420,BMG_DS006783,DOID:4248 | UMLS ID:C0242231 | coronary stenosis | Coronary Stenosis | MONDO:0006715 | MeSH ID:D023921 +BMGC_DS04421,BMG_DS006785,"McCune-Albright syndrome | MeSH ID:D005359 | McCune-Albright Syndrome | MONDO:0018919 | OMIM ID:174800 | UMLS ID:C0242292 | Fibrous Dysplasia, Polyostotic" +BMGC_DS04422,BMG_DS006786,heavy chain disease | UMLS ID:C0242310 | DOID:0060125 | MONDO:0015044 | mu-heavy chain disease +BMGC_DS04423,BMG_DS006789,MeSH ID:D050171 | Dyslipidemias | UMLS ID:C0242339 +BMGC_DS04424,BMG_DS006790,UMLS ID:C0242341 | Sexual Infantilism | MeSH ID:D050035 +BMGC_DS04425,BMG_DS006791,MONDO:0019618 | DOID:9476 | Sheehan Syndrome | MeSH ID:D007018 | Hypopituitarism | Sheehan syndrome | UMLS ID:C0242342 +BMGC_DS04426,BMG_DS006792,panhypopituitarism | Primary hypopituitarism | 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 | OMIM ID:MTHU017686 | SNOMEDCT ID:190469009 | Hypopituitarism: [NOS] or [Sheehan's syndrome] or [Simmond's disease] or [Panhypopituitarism] (disorder) | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | Hypopituit/panhypopituitarism | Sheehan's syndrome | hypogonadotropic hypogonadism 6 with or without anosmia | Panhypopituitarism (disorder) | isolated growth hormone deficiency type IA | Hypopituitarism | isolated growth hormone deficiency type III | 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 | hypogonadotropic hypogonadism 10 with or without anosmia | SNOMEDCT ID:154700009 | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | Simmonds' disease | Hypopituitarism: [NOS] or [Sheehan's syndrome] or [Simmond's disease] or [Panhypopituitarism] | hypogonadotropic hypogonadism 4 with or without anosmia | MONDO:0019591 | hypogonadotropic hypogonadism 1 with or without anosmia | Hypopituit (& [panhypopituitarism]) | hypogonadotropic hypogonadism 15 with or without anosmia | Panhypopituitarism | hypogonadotropic hypogonadism 16 with or without anosmia | Hypopituitarism NOS | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | ICD10 ID:E23.0 | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | Simmond's disease | hypogonadotropic hypogonadism 12 with or without anosmia | Hypopituit (& [panhypopituitarism]) (disorder) | ICD11 ID:5A61.0 | hypogonadotropic hypogonadism | UMLS ID:C0242343 | Deficient secretion of all pituitary hormones | MeSH ID:C580003 | hypogonadotropic hypogonadism 11 with or without anosmia | combined pituitary hormone deficiency | hypogonadotropic hypogonadism 8 with or without anosmia | SNOMEDCT ID:267481002 | hypogonadotropic hypogonadism 20 with or without anosmia | SNOMEDCT ID:32390006 +BMGC_DS04427,BMG_DS006793,Erectile dysfunction | UMLS ID:C0242350 | Sexual impotence | MONDO:0005362 | Failure of erection | OMIM ID:MTHU026591 | Male erectile disorder | SNOMEDCT ID:398175007 | Erectile dysfunction (disorder) | erectile dysfunction | SNOMEDCT ID:860914002 | SNOMEDCT ID:397803000 | Impotence | SNOMEDCT ID:33967003 | Impotence (disorder) | Male erectile disorder (disorder) +BMGC_DS04428,BMG_DS006794,"MeSH ID:D009358 | UMLS ID:C0242354 | Congenital Disorders | Congenital, Hereditary, and Neonatal Diseases and Abnormalities" +BMGC_DS04429,BMG_DS006795,DOID:1799 | UMLS ID:C0242363 | islet cell tumor +BMGC_DS04430,BMG_DS006796,UMLS ID:C0242379 | MONDO:0008903 | OMIM ID:211980 | lung cancer +BMGC_DS04431,BMG_DS006797,"Libman-Sacks endocarditis | UMLS ID:C0242380 | Libman-Sacks Disease | Lupus Erythematosus, Systemic | MONDO:0850223 | MeSH ID:D008180" +BMGC_DS04432,BMG_DS006798,UMLS ID:C0242381 | MeSH ID:D008193 | Lyme Disease | Lyme Arthritis +BMGC_DS04433,BMG_DS006799,Senile macular degeneration | AAMD - Age related macular degeneration | Age-related macular degeneration | AMD - Age-related macular degeneration | age-related macular degeneration | Senile macular retinal degeneration | age related macular degeneration | SNOMEDCT ID:267718000 | SNOMEDCT ID:18222007 | ARMD - Age-related macular degeneration | Age related macular degeneration (disorder) | SMD - Senile macular degeneration | DOID:10871 | Age related macular degeneration | MONDO:0005150 | Age-related macular degeneration (disorder) | UMLS ID:C0242383 +BMGC_DS04434,BMG_DS006800,UMLS ID:C0242387 | Mandibulofacial Dysostosis | DOID:2908 | MONDO:0015483;MONDO:0002457 | MeSH ID:D008342 | Treacher Collins syndrome | Treacher-Collins syndrome | mandibulofacial dysostosis +BMGC_DS04435,BMG_DS006803,UMLS ID:C0242420 | optic papillitis | MONDO:0004037 | retinal edema | DOID:6929;DOID:10175 +BMGC_DS04436,BMG_DS006804,parkinsonian disorder | UMLS ID:C0242422 | MeSH ID:D020734 | Parkinsonian Disorders | MONDO:0021095 +BMGC_DS04437,BMG_DS006805,Parkinsonian Disorders | UMLS ID:C0242423 | Ramsay Hunt Paralysis Syndrome | MeSH ID:D020734 +BMGC_DS04438,BMG_DS006806,Chylopericardium | ICD10 ID:I31.39 | UMLS ID:C0242426 | MeSH ID:D010490 | Pericardial Effusion | Chylopericardium (disorder) | SNOMEDCT ID:233890005 +BMGC_DS04439,BMG_DS006807,Simple Pulmonary Eosinophilia | DOID:9503 | MeSH ID:D011657 | Loeffler syndrome | Pulmonary Eosinophilia | UMLS ID:C0242459 +BMGC_DS04440,BMG_DS006808,"MeSH ID:D011695 | IgA Vasculitis | Purpura, Nonthrombocytopenic | UMLS ID:C0242461" +BMGC_DS04441,BMG_DS006809,SNOMEDCT ID:278525009 | Enthesopathy (disorder) | MONDO:0002183 | enthesopathy | Enthesopathy | DOID:204 | SNOMEDCT ID:23680005 | MeSH ID:D000070676 | UMLS ID:C0242490 +BMGC_DS04442,BMG_DS006811,"MeSH ID:D013614 | Tachycardia, Paroxysmal | Paroxysmal Reciprocal Tachycardia | UMLS ID:C0242513" +BMGC_DS04443,BMG_DS006813,"UMLS ID:C0242526 | Gonadal Dysgenesis, 45,X | monosomy X | Turner Syndrome | MONDO:0020466 | MeSH ID:D014424" +BMGC_DS04444,BMG_DS006814,OMIM ID:MTHU013356 | MeSH ID:D053099 | Azotemia | UMLS ID:C0242528 | SNOMEDCT ID:445009001 | Azotaemia | Azotemia (disorder) +BMGC_DS04445,BMG_DS006817,Opsoclonia (finding) | SNOMEDCT ID:73519005 | UMLS ID:C0242567 | Opsoclonus | SNOMEDCT ID:194177006 | Ocular Motility Disorders | OMIM ID:MTHU010637 | Opsoclonus (finding) | MeSH ID:D015835 | Opsoclonia +BMGC_DS04446,BMG_DS006818,UMLS ID:C0242583 | Bare Lymphocyte Syndrome | MeSH ID:D016511 | Severe Combined Immunodeficiency | MHC class II deficiency | DOID:5812 +BMGC_DS04447,BMG_DS006819,SNOMEDCT ID:275758003 | UMLS ID:C0242584 | Chronic thrombocytopenic purpura | Chronic idiopathic thrombocytopenic purpura (disorder) | autoimmune thrombocytopenia | Autoimmune thrombocytopenic purpura | OMIM ID:MTHU004966 | Autoimmune thrombocytopenia | SNOMEDCT ID:128091003 | Purpura haemorrhagica | Primary ITP (immune thrombocytopenia) | MONDO:0019098 | Chronic idiopathic thrombocytopenic purpura | Autoimmune thrombocytopenia (disorder) | Purpura hemorrhagica | Werlhof's disease | SNOMEDCT ID:13172003 +BMGC_DS04448,BMG_DS006820,MeSH ID:D018370 | leukocyte adhesion deficiency | UMLS ID:C0242597 | Leukocyte-Adhesion Deficiency Syndrome | DOID:6612 +BMGC_DS04449,BMG_DS006823,DOID:606 | MONDO:0003754 | Brown-Sequard syndrome | Brown-Sequard Syndrome | MeSH ID:D018437 | UMLS ID:C0242644 +BMGC_DS04450,BMG_DS006824,DOID:14121 | MeSH ID:D018438 | Blue Toe Syndrome | MONDO:0001883 | UMLS ID:C0242645 | blue toe syndrome +BMGC_DS04451,BMG_DS006825,MONDO:0007650 | MALT lymphoma | UMLS ID:C0242647 | OMIM ID:137245 +BMGC_DS04452,BMG_DS006826,DOID:2451 | protein S deficiency | Protein S Deficiency | UMLS ID:C0242666 | MONDO:0002304 | MeSH ID:D018455 +BMGC_DS04453,BMG_DS006830,"MeSH ID:D018488 | Bone Demineralization, Pathologic | UMLS ID:C0242699" +BMGC_DS04454,BMG_DS006831,space motion sickness | Space Motion Sickness | MeSH ID:D018489 | MONDO:0003147 | UMLS ID:C0242700 | DOID:4796 +BMGC_DS04455,BMG_DS006833,MONDO:0015264 | UMLS ID:C0242770 | MeSH ID:D018549 | DOID:0050157 | Bronchiolitis Obliterans Organizing Pneumonia | Cryptogenic Organizing Pneumonia | cryptogenic organizing pneumonia +BMGC_DS04456,BMG_DS006834,UMLS ID:C0242788 | DOID:1614 | male breast cancer +BMGC_DS04457,BMG_DS006836,Fibrosis of retina | Retinitis proliferans | proliferative vitreoretinopathy | Proliferative vitreoretinopathy (disorder) | neovascular inflammatory vitreoretinopathy | MONDO:0700115 | SNOMEDCT ID:232016005 | Proliferative vitreoretinopathy | OMIM ID:MTHU059298 | DOID:9719 | UMLS ID:C0242852 | PVR - Proliferative vitreoretinopathy +BMGC_DS04458,BMG_DS006837,SNOMEDCT ID:52670000 | Imperforate pulmonary valve | Congenital atresia of pulmonary valve | SNOMEDCT ID:204342004 | Congenital atresia of pulmonary valve (disorder) | UMLS ID:C0242855 +BMGC_DS04459,BMG_DS006841,MeSH ID:D018746 | UMLS ID:C0242966 | Systemic Inflammatory Response Syndrome +BMGC_DS04460,BMG_DS006842,DOID:4661 | obsolete multiple chemical sensitivity | MeSH ID:D018777 | UMLS ID:C0242992 | Multiple Chemical Sensitivity | MONDO:0005862 | multiple chemical sensitivity +BMGC_DS04461,BMG_DS006848,UMLS ID:C0243001 | MeSH ID:D018784 | Abdominal Abscess +BMGC_DS04462,BMG_DS006849,UMLS ID:C0243002 | OMIM ID:605067 | tricuspid atresia | MONDO:0011514 +BMGC_DS04463,BMG_DS006850,"Encephalitis, Viral | Viral Encephalitis | MeSH ID:D018792 | UMLS ID:C0243010 | viral encephalitis | MONDO:0006009" +BMGC_DS04464,BMG_DS006851,Hantavirus Pulmonary Syndrome | MeSH ID:D018804 | hantavirus pulmonary syndrome | DOID:14472 | UMLS ID:C0243025 | MONDO:0017879 +BMGC_DS04465,BMG_DS006852,SNOMEDCT ID:186392004 | Systemic infection | SNOMEDCT ID:91302008 | MeSH ID:D018805 | Sepsis (disorder) | OMIM ID:MTHU055817 | UMLS ID:C0243026 | (Septicaemia NOS) or (sepsis) | Septicemia NOS | Septicaemia NOS | Sepsis | (Septicaemia NOS) or (sepsis) (disorder) | (Septicemia NOS) or (sepsis) +BMGC_DS04466,BMG_DS006855,Autonomic neuropathy | UMLS ID:C0259749 | MONDO:0001300 | SNOMEDCT ID:277879009 | OMIM ID:MTHU052930 | autonomic neuropathy | Autonomic neuropathy (disorder) | DOID:11504 +BMGC_DS04467,BMG_DS006857,sebocystomatosis | MONDO:0008485 | OMIM ID:184500 | UMLS ID:C0259771 +BMGC_DS04468,BMG_DS006860,MONDO:0000845 | fibrous dysplasia | UMLS ID:C0259779 +BMGC_DS04469,BMG_DS006861,MONDO:0004050 | telangiectatic osteogenic sarcoma | UMLS ID:C0259782 | DOID:6951 +BMGC_DS04470,BMG_DS006862,mixed glioma | UMLS ID:C0259783 | DOID:5076 | MONDO:0003268 +BMGC_DS04471,BMG_DS006864,MONDO:0003262 | DOID:5058 | rhabdoid meningioma | UMLS ID:C0259786 +BMGC_DS04472,BMG_DS006866,Punctate epithelial keratitis | Thygeson's superficial punctate keratitis | punctate epithelial keratoconjunctivitis | UMLS ID:C0259799 | ICD10 ID:H16.14 | Superficial punctate keratitis | OMIM ID:MTHU037418 | Punctate keratitis | Keratitic precipitates | (Punctate keratitis [& Thygeson's superficial] ) or (keratitic precipitates) | DOID:12197 | PK - Punctate keratitis | Punctate keratitis (disorder) | (Punctate keratitis [& Thygeson's superficial] ) or (keratitic precipitates) (disorder) | SNOMEDCT ID:193767008 | SNOMEDCT ID:42513006 +BMGC_DS04473,BMG_DS006867,purulent endophthalmitis | ICD10 ID:H44.0 | Purulent endophthalmitis (disorder) | ICD11 ID:9C20.2 | UMLS ID:C0259800 | DOID:9724 | MONDO:0004863 | Purulent endophthalmitis | SNOMEDCT ID:41720003 +BMGC_DS04474,BMG_DS006870,MONDO:0021945 | UMLS ID:C0260662 | hearing disorder +BMGC_DS04475,BMG_DS006874,DOID:4932 | ampulla of Vater carcinoma | MONDO:0017590 | UMLS ID:C0262401 | carcinoma of the ampulla of vater +BMGC_DS04476,BMG_DS006879,"cardiac valvular dysplasia, X-linked | Cardiac valvular dysplasia, X-linked | OMIM ID:314400 | UMLS ID:C0262436 | MeSH ID:C535576 | MONDO:0010753" +BMGC_DS04477,BMG_DS006887,Anterior Wall Myocardial Infarction | MONDO:0006652 | anterolateral myocardial infarction | DOID:5845 | Anterolateral Myocardial Infarction | MeSH ID:D056988 | UMLS ID:C0262564 +BMGC_DS04478,BMG_DS006888,Anterior Wall Myocardial Infarction | MeSH ID:D056988 | MONDO:0003679 | Anteroseptal Myocardial Infarction | DOID:5855 | UMLS ID:C0262565 | anteroseptal myocardial infarction +BMGC_DS04479,BMG_DS006891,lung oat cell carcinoma | UMLS ID:C0262584 | DOID:5411 +BMGC_DS04480,BMG_DS006894,parathyroid gland adenoma | MONDO:0006890 | UMLS ID:C0262587 | DOID:7608 | parathyroid adenoma +BMGC_DS04481,BMG_DS006899,"Urinary tract infection, site not specified | Recurrent urinary tract infection (disorder) | SNOMEDCT ID:155901008 | Recurrent UTI - urinary tract infection | SNOMEDCT ID:197927001 | UMLS ID:C0262655 | Urinary tract infection: [site not specified] or [recurrent] | Recurrent urinary tract infection | SNOMEDCT ID:197924008 | Urinary tract infection: [site not specified] or [recurrent] (disorder)" +BMGC_DS04482,BMG_DS006903,extragonadal germ cell cancer | UMLS ID:C0262963 | DOID:4717 | MONDO:0018201 | extragonadal germ cell tumor +BMGC_DS04483,BMG_DS006915,UMLS ID:C0262984 | DOID:4406 | spongiotic dermatitis | MONDO:0002987 | OMIM ID:MTHU057660 | SNOMEDCT ID:23615008 | Spongiotic dermatitis | Spongiotic dermatitis (disorder) +BMGC_DS04484,BMG_DS006916,Psoriasiform eczema (disorder) | UMLS ID:C0262985 | SNOMEDCT ID:238564003 | Psoriasiform eczema +BMGC_DS04485,BMG_DS006919,"MeSH ID:D017445 | MONDO:0020576 | cutaneous vasculitis | UMLS ID:C0262988 | Skin Diseases, Vascular | Cutaneous Vasculitis" +BMGC_DS04486,BMG_DS007190,Contact dermatitis caused by urushiol from Rhus diversiloba | Contact dermatitis caused by urushiol from Toxicodendron diversilobum | UMLS ID:C0263283 | Contact dermatitis caused by urushiol from Toxicodendron diversilobum (disorder) | SNOMEDCT ID:409784006 | Contact dermatitis caused by urushiol from Pacific poison oak | Contact dermatitis caused by Toxicodendron diversilobum +BMGC_DS04487,BMG_DS007207,UMLS ID:C0263313 | MONDO:0019324 | MeSH ID:D010392 | pemphigus foliaceus | DOID:0080850 | Pemphigus Foliaceus | Pemphigus +BMGC_DS04488,BMG_DS007220,"MONDO:0008632 | UMLS ID:C0263334 | Urticaria, Aquagenic | OMIM ID:191850 | MeSH ID:D000094482 | urticaria, aquagenic | Chronic Inducible Urticaria" +BMGC_DS04489,BMG_DS007224,UMLS ID:C0263338 | MONDO:0850230 | DOID:0080747 | chronic urticaria | Chronic Urticaria | MeSH ID:D000080223 +BMGC_DS04490,BMG_DS007237,UMLS ID:C0263353 | prurigo nodularis | Hyde's disease | ICD10 ID:L28.1 | ICD11 ID:EC91.0 | Prurigo nodularis (disorder) | SNOMEDCT ID:63501000 | MONDO:0026045 | Picker's nodules | Prurigo nodularis | Nodular prurigo +BMGC_DS04491,BMG_DS007251,UMLS ID:C0263372 | Gianotti-Crosti Syndrome | MeSH ID:D000169 | Acrodermatitis +BMGC_DS04492,BMG_DS007255,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 | SNOMEDCT ID:41580004 | Sulzberger-Garbe syndrome +BMGC_DS04493,BMG_DS007260,MONDO:0007869 | UMLS ID:C0263382 | OMIM ID:149500 | ICD11 ID:EE70.0 | MeSH ID:C538130 | ICD10 ID:L87.0 | Kyrle disease | Acquired perforating dermatosis +BMGC_DS04494,BMG_DS007261,SNOMEDCT ID:201062000 | KP - Keratosis pilaris | keratosis pilaris | UMLS ID:C0263383 | OMIM ID:MTHU005148 | MeSH ID:C537412 | Keratosis pilaris (disorder) | Keratosis pilaris | SNOMEDCT ID:5132005 | MONDO:0021036 +BMGC_DS04495,BMG_DS007262,"OMIM ID:167900 | UMLS ID:C0263385 | MONDO:0008188 | papillomatosis, confluent and reticulated" +BMGC_DS04496,BMG_DS007272,Erythema elevatum diutinum | SNOMEDCT ID:201300002 | DOID:0060567 | erythema elevatum diutinum | Other specified localised cutaneous vasculitis | EED - Erythema elevatum diutinum | SNOMEDCT ID:58872001 | UMLS ID:C0263398 | Erythema elevatum diutinum (disorder) | MONDO:0019526 | MeSH ID:C535509 | ICD10 ID:L95.1 | ICD11 ID:EF40.2Y +BMGC_DS04497,BMG_DS007275,Cutis marmorata (finding) | UMLS ID:C0263401 | Cutis marmorata | OMIM ID:MTHU005302 | Cutis marmorata (disorder) | SNOMEDCT ID:26825009 | SNOMEDCT ID:201304006 +BMGC_DS04498,BMG_DS007276,Telangiectasia macularis eruptiva perstans (disorder) | MONDO:0019576 | MeSH ID:C000715747 | Paucicellular mastocytosis | telangiectasia macularis eruptiva perstans | UMLS ID:C0263402 | ICD10 ID:D47.01 | TMEP - telangiectasia macularis eruptiva perstans | SNOMEDCT ID:8214000 | Telangiectasia macularis eruptiva perstans +BMGC_DS04499,BMG_DS007279,"MeSH ID:D012594 | Linear Scleroderma | Scleroderma, Localized | linear scleroderma | MONDO:0043294 | UMLS ID:C0263409" +BMGC_DS04500,BMG_DS007285,MONDO:0007756 | Hyperkeratosis lenticularis perstans (disorder) | hyperkeratosis lenticularis perstans | Hyperkeratosis lenticularis perstans | SNOMEDCT ID:28488007 | UMLS ID:C0263420 | OMIM ID:144150 | Flegels disease | Hyperkeratosis lenticularis perstans of Flegel | MeSH ID:C538377 +BMGC_DS04501,BMG_DS007290,Burnett Schwartz Berberian syndrome | UMLS ID:C0263428 | OMIM ID:604093 | MeSH ID:C537412 | MONDO:0018855 | keratosis pilaris atrophicans +BMGC_DS04502,BMG_DS007291,OMIM ID:209700 | UMLS ID:C0263429 | MONDO:0008849 | Atrophoderma vermiculatum | Folliculitis ulerythematosa reticulata | SNOMEDCT ID:2736005 | atrophoderma vermiculata | Acne vermoulante | SNOMEDCT ID:201154005 | Atrophoderma vermiculatum (disorder) | Honeycomb atrophy of face +BMGC_DS04503,BMG_DS007311,SNOMEDCT ID:83684005 | Chlorine acne (disorder) | MeSH ID:D054506 | UMLS ID:C0263454 | Chlorine acne | Chloracne +BMGC_DS04504,BMG_DS007323,MONDO:0024228 | DOID:0070320 | ICD11 ID:EE02.Y | miliaria profunda | ICD10 ID:L74.2 | Miliaria profunda (disorder) | UMLS ID:C0263468 | SNOMEDCT ID:47317002 | Miliaria profunda | SNOMEDCT ID:201193001 | Other specified forms of miliaria +BMGC_DS04505,BMG_DS007325,OMIM ID:139000 | Granulosis Rubra Nasi | granulosis rubra nasi | MONDO:0007685 | MeSH ID:C562483 | UMLS ID:C0263471 +BMGC_DS04506,BMG_DS007331,DOID:0060157 | Diffuse alopecia areata | diffuse alopecia areata | MONDO:0000687 | SNOMEDCT ID:46586006 | Diffuse alopecia areata (disorder) | UMLS ID:C0263479 +BMGC_DS04507,BMG_DS007338,SNOMEDCT ID:21926007 | OMIM ID:180600 | ringed hair disease | MeSH ID:C537187 | Pili annulati | OMIM ID:MTHU010122 | Ringed hair | SNOMEDCT ID:247556005 | ICD11 ID:EC21.0 | MONDO:0008388 | ICD10 ID:Q84.1 | Genetic defects of the hair shaft | UMLS ID:C0263489 | Pili annulati (disorder) +BMGC_DS04508,BMG_DS007340,pili torti | OMIM ID:261900 | UMLS ID:C0263491 | MONDO:0009870 +BMGC_DS04509,BMG_DS007351,SNOMEDCT ID:201145007 | ICD10 ID:L63.1 | Universal alopecia areata | UMLS ID:C0263505 | Alopecia universalis | ICD11 ID:ED70.2Y | MONDO:0800198 | alopecia universalis | DOID:0050634 | SNOMEDCT ID:86166000 | Alopecia universalis (disorder) | Other specified forms of alopecia areata | MeSH ID:C537055 | OMIM ID:MTHU033161 +BMGC_DS04510,BMG_DS007352,Perifolliculitis capitis abscedens | MONDO:0009848 | SNOMEDCT ID:201182003 | UMLS ID:C0263506 | ICD11 ID:ED70.51 | Perifolliculitis capitis abscedens (disorder) | dissecting cellulitis of the scalp | OMIM ID:260910 | Dissecting cellulitis | ICD10 ID:L66.3 +BMGC_DS04511,BMG_DS007362,Telogen effluvium (disorder) | UMLS ID:C0263518 | SNOMEDCT ID:201147004 | SNOMEDCT ID:39479004 | DOID:1943 | MONDO:0002153 | Telogen effluvium | ICD10 ID:L65.0 | ICD11 ID:ED70.3Z | telogen effluvium | Telogen effluvium unspecified +BMGC_DS04512,BMG_DS007406,Drug-induced lupus erythematosus | UMLS ID:C0263591 | DOID:0040093 | SNOMEDCT ID:80258006 | Lupus-like syndrome | MONDO:0016474 | Drug-induced lupus erythematosus (disorder) | drug-induced lupus erythematosus +BMGC_DS04513,BMG_DS007437,angioma serpiginosum | DOID:4028 | MONDO:0019803 | UMLS ID:C0263637 +BMGC_DS04514,BMG_DS007438,angiokeratoma circumscriptum | Angiokeratoma circumscriptum | DOID:5949 | MONDO:0003713 | Angiokeratoma circumscriptum (disorder) | UMLS ID:C0263638 | SNOMEDCT ID:21848000 +BMGC_DS04515,BMG_DS007439,DOID:664 | MONDO:0003954 | UMLS ID:C0263639 | angiokeratoma of Fordyce +BMGC_DS04516,BMG_DS007440,angiokeratoma of mibelli | UMLS ID:C0263640 | MONDO:0003712 | DOID:5948 +BMGC_DS04517,BMG_DS007458,DECD | Disseminated eosinophilic collagen disease (disorder) | Disseminated eosinophilic collagen disease | Hypereosinophilic syndrome | disseminated eosinophilic collagen disease | SNOMEDCT ID:423486005 | SNOMEDCT ID:26328002 | MONDO:0004803 | DOID:9499 | UMLS ID:C0263662 +BMGC_DS04518,BMG_DS007462,"MeSH ID:D003882 | Dermatomyositis | juvenile dermatomyositis | childhood type dermatomyositis | Dermatomyositis, Childhood Type | DOID:14203 | MONDO:0008054 | UMLS ID:C0263666" +BMGC_DS04519,BMG_DS007583,DOID:13677 | SAPHO syndrome | UMLS ID:C0263859 | MONDO:0019266 +BMGC_DS04520,BMG_DS007611,Capsulitis | UMLS ID:C0263907 | (Peripheral enthesopathies) or (capsulitis) | Enthesopathies - peripheral | SNOMEDCT ID:6858004 | SNOMEDCT ID:268086004 | (Peripheral enthesopathies) or (capsulitis) (disorder) | MeSH ID:D002062 | Peripheral enthesopathies | Capsulitis (disorder) | Bursitis +BMGC_DS04521,BMG_DS007635,SNOMEDCT ID:11654001 | ICD11 ID:FB40.Y | UMLS ID:C0263933 | Spur - calcaneal | (Tendinitis: [ankle/tarsus] or [achilles] or [ankle]) or (calcaneal spur) or (metatarsalgia) (disorder) | Other specified tenosynovitis | Achilles tendinitis (disorder) | SNOMEDCT ID:268090002 | Metatarsalgia | Achilles tendinitis | SNOMEDCT ID:156663001 | Calcaneal spur | (Tendinitis: [ankle/tarsus] or [achilles] or [ankle]) or (calcaneal spur) or (metatarsalgia) | ICD10 ID:M76.6 | Ankle tendonitis | Achilles tendonitis | Achilles tendiditis | Tendinitis of ankle/tarsus +BMGC_DS04522,BMG_DS007658,"Elbow bursitis (& olecranon) (disorder) | Elbow hygroma (disorder) | Inflammation of bursa of olecranon | Miner's elbow | Elbow bursitis (& olecranon) | Bursitis, unspecified | SNOMEDCT ID:202930004 | ICD11 ID:FB50.Z | Shoe boil | UMLS ID:C0263962 | Olecranon bursitis (disorder) | olecranon bursitis | ICD10 ID:M70.2 | SNOMEDCT ID:424548006 | Inflammation of bursa of olecranon (disorder) | Elbow hygroma | MONDO:0001557 | SNOMEDCT ID:425940002 | SNOMEDCT ID:270542002 | Bursitis of elbow | Miners' elbow | Bursitis of elbow region | Bursitis - elbow | Olecranon bursitis | Student's elbow | SNOMEDCT ID:77299006 | Capped elbow | DOID:12581" +BMGC_DS04523,BMG_DS007668,DOID:0080745 | UMLS ID:C0263984 | polymyositis | Polymyositis Ossificans | MeSH ID:D017285 | Polymyositis +BMGC_DS04524,BMG_DS007680,ICD10 ID:M72.1 | Knuckle pads (disorder) | MONDO:0007865 | Knuckle pads | knuckle pads | Garrod's pads | UMLS ID:C0264000 | OMIM ID:MTHU051342 | SNOMEDCT ID:16687001 | OMIM ID:149100 | ICD11 ID:FB51.1 +BMGC_DS04525,BMG_DS007684,Eosinophilic Fasciitis | UMLS ID:C0264005 | MeSH ID:C562487 | OMIM ID:226350 | MONDO:0009175 | eosinophilic fasciitis +BMGC_DS04526,BMG_DS007687,Hepatic osteodystrophy (disorder) | UMLS ID:C0264010 | Hepatic osteodystrophy | SNOMEDCT ID:28193003 +BMGC_DS04527,BMG_DS007748,"MeSH ID:C537144 | OMIM ID:165700 | MONDO:0008142 | Osteoarthropathy of fingers familial | UMLS ID:C0264081 | Thiemann disease, familial form" +BMGC_DS04528,BMG_DS007771,drug-induced osteoporosis | MONDO:0024650 | UMLS ID:C0264115 +BMGC_DS04529,BMG_DS007775,"Muscular Disorders, Atrophic | MeSH ID:D020966 | Atrophy, Disuse | UMLS ID:C0264122" +BMGC_DS04530,BMG_DS007782,idiopathic camptocormia | UMLS ID:C0264162 | MONDO:0015271 +BMGC_DS04531,BMG_DS007815,Chronic disease of respiratory system (disorder) | SNOMEDCT ID:17097001 | Chronic disease of respiratory system | Chronic respiratory system disease | UMLS ID:C0264220 | Chronic respiratory disease +BMGC_DS04532,BMG_DS007878,OMIM ID:150280 | UMLS ID:C0264303 | congenital laryngomalacia | MONDO:0007878 +BMGC_DS04533,BMG_DS007892,tracheal calcification | DOID:14224 | Calcification of trachea (disorder) | UMLS ID:C0264324 | Calcification of trachea | Tracheal calcification | SNOMEDCT ID:81089005 | MONDO:0001911 +BMGC_DS04534,BMG_DS007909,MeSH ID:D055091 | SNOMEDCT ID:54203008 | Bronchomalacia (disorder) | OMIM ID:MTHU014703 | Bronchomalacia | UMLS ID:C0264353 +BMGC_DS04535,BMG_DS007912,MeSH ID:D001987 | Cylindrical Bronchiectasis | Bronchiectasis | UMLS ID:C0264358 +BMGC_DS04536,BMG_DS007914,Saccular Bronchiectasis | UMLS ID:C0264360 | MeSH ID:D001987 | Bronchiectasis +BMGC_DS04537,BMG_DS007944,Pulmonary Emphysema | MeSH ID:D011656 | UMLS ID:C0264393 | Panacinar Emphysema +BMGC_DS04538,BMG_DS007964,"UMLS ID:C0264423 | occupational asthma | MeSH ID:D059366 | MONDO:0022742 | Asthma, Occupational" +BMGC_DS04539,BMG_DS007973,Kaolin pneumoconiosis | Kaolinosis | kaolin pneumoconiosis | MONDO:0001005 | DOID:10331 | Kaolin workers pneumoconiosis | UMLS ID:C0264435 | Kaolinosis (disorder) | SNOMEDCT ID:36696005 +BMGC_DS04540,BMG_DS008010,"ARF - Acute respiratory failure | Acute respiratory failure (disorder) | respiratory failure | acute respiratory failure | ICD10 ID:J96.0 | DOID:11162 | Acute respiratory failure | Acute respiratory failure, unspecified | ICD11 ID:CB41.0Z | MONDO:0001208 | UMLS ID:C0264490 | SNOMEDCT ID:65710008" +BMGC_DS04541,BMG_DS008019,UMLS ID:C0264499 | Pulmonary Atelectasis | Compression Pulmonary Atelectasis | MeSH ID:D001261 +BMGC_DS04542,BMG_DS008027,"UMLS ID:C0264510 | Pneumonia, Lipid | Endogenous Lipid Pneumonia | MeSH ID:D011017" +BMGC_DS04543,BMG_DS008028,ICD10 ID:J84.2 | SNOMEDCT ID:44274007 | UMLS ID:C0264511 | Lymphocytic interstitial pneumonia | OMIM ID:247610 | Lymphoid interstitial pneumonia | Lymphoid interstitial pneumonitis | Lymphoid interstitial pneumonitis (disorder) | Idiopathic lymphocytic interstitial pneumonia | lymphoid interstitial pneumonia | MONDO:0009537 | OMIM ID:MTHU071516 +BMGC_DS04544,BMG_DS008031,"UMLS ID:C0264515 | Pneumonia, Necrotizing | MeSH ID:D000071067" +BMGC_DS04545,BMG_DS008069,UMLS ID:C0264558 | Pneumothorax | MeSH ID:D011030 | Tension Pneumothorax +BMGC_DS04546,BMG_DS008089,MeSH ID:D055154 | Spastic Dysphonia | UMLS ID:C0264588 | Dysphonia +BMGC_DS04547,BMG_DS008099,"Voice Disorder, Neurologic | UMLS ID:C0264600 | MeSH ID:D014832 | Voice Disorders" +BMGC_DS04548,BMG_DS008106,Apraxias | UMLS ID:C0264611 | MeSH ID:D001072 | Apraxia of Phonation +BMGC_DS04549,BMG_DS008167,SNOMEDCT ID:194852007 | Chronic myocardial ischaemia (disorder) | Chronic ischaemic heart disease | UMLS ID:C0264694 | Chronic myocardial ischemia (disorder) | Chronic coronary insufficiency | Chronic ischemic heart disease | SNOMEDCT ID:413844008 | Chronic myocardial ischemia | coronary artery disease | Chronic ischemic heart disease (disorder) | Chronic myocardial ischaemia | DOID:3393 | SNOMEDCT ID:84537008 +BMGC_DS04550,BMG_DS008181,SNOMEDCT ID:195116000 | Acute heart failure | UMLS ID:C0264714 | Acute heart failure (disorder) | SNOMEDCT ID:56675007 +BMGC_DS04551,BMG_DS008183,OMIM ID:MTHU065635 | Chronic heart failure | SNOMEDCT ID:48447003 | Chronic heart failure (disorder) | UMLS ID:C0264716 +BMGC_DS04552,BMG_DS008207,Rheumatic fever without heart involvement (disorder) | SNOMEDCT ID:155265007 | ICD10 ID:I00 | SNOMEDCT ID:24363009 | rheumatic fever | DOID:1586 | UMLS ID:C0264743 | Rheumatic fever without heart involvement +BMGC_DS04553,BMG_DS008209,MeSH ID:D020150 | DOID:14483 | Chorea Gravidarum | UMLS ID:C0264746 | chorea gravidarum | MONDO:0001976 +BMGC_DS04554,BMG_DS008226,SNOMEDCT ID:83898004 | Rheumatic disease of mitral valve (disorder) | rheumatic disease of mitral valve | DOID:61 | Rheumatic mitral valve changes | mitral valve disease | UMLS ID:C0264765 | Rheumatic mitral valve disease | Rheumatic disease of mitral valve | MONDO:0042967 +BMGC_DS04555,BMG_DS008234,aortic valve insufficiency | UMLS ID:C0264774 | mitral valve insufficiency | DOID:11502;DOID:57 | Mitral and aortic incompetence (disorder) | Mitral and aortic insufficiency | SNOMEDCT ID:194736003 | Mitral and aortic incompetence | Mitral and aortic regurgitation +BMGC_DS04556,BMG_DS008236,Rheumatic disease of tricuspid valve | DOID:0050826 | SNOMEDCT ID:49699002 | UMLS ID:C0264776 | tricuspid valve disease | Rheumatic disease of tricuspid valve (disorder) | Rheumatic tricuspid valve disease +BMGC_DS04557,BMG_DS008247,Primary familial cardiomyopathy | Familial cardiomyopathy | UMLS ID:C0264789 | familial cardiomyopathy | MONDO:0005217 | Familial cardiomyopathy (disorder) | SNOMEDCT ID:195019009 | SNOMEDCT ID:389997000 | SNOMEDCT ID:35728003 +BMGC_DS04558,BMG_DS008285,Constrictive endocarditis | UMLS ID:C0264834 | Löffler's parietal fibroplastic endocarditis | SNOMEDCT ID:33258008 | Eosinophilic endomyocardial disease | Primary eosinophilic endomyocardial restrictive cardiomyopathy (disorder) | DOID:396 | Löffler's endocarditis | Primary eosinophilic endomyocardial restrictive cardiomyopathy | Loeffler endocarditis +BMGC_DS04559,BMG_DS008330,Myxoid transformation of mitral valve | Myxomatous degeneration of mitral valve | Myxoid transformation of mitral valve (disorder) | UMLS ID:C0264885 | SNOMEDCT ID:42069006 +BMGC_DS04560,BMG_DS008331,UMLS ID:C0264886 | OMIM ID:115080 | Conduction disorder of the heart (disorder) | Disorder of heart conduction | Conduction disorder of the heart | MONDO:0100042 | SNOMEDCT ID:44808001 | cardiac conduction defect +BMGC_DS04561,BMG_DS008336,UMLS ID:C0264893 | ICD10 ID:I49.8 | Brugada syndrome 1 | Other specified diseases of the circulatory system | Nodal arrhythmia | Nodal rhythm disorder (disorder) | Sinus arrhythmia | Brugada syndrome 9 | Nodal rhythm disorder | DOID:0110218;DOID:0110226 | SNOMEDCT ID:71792006 | SNOMEDCT ID:195102005 | ICD11 ID:BE2Y +BMGC_DS04562,BMG_DS008342,"Second degree heart block | second-degree atrioventricular block | Second degree atrioventricular block | Incomplete atrioventricular block, second degree | Second degree atrioventricular block (disorder) | UMLS ID:C0264906 | SNOMEDCT ID:195042002 | MONDO:0000467" +BMGC_DS04563,BMG_DS008370,MeSH ID:D056647 | UMLS ID:C0264939 | Systemic Vasculitis +BMGC_DS04564,BMG_DS008409,Ruptured thoracic aortic aneurysm | Ruptured thoracic aortic aneurysm (disorder) | Thoracic aortic aneurysm which has ruptured (disorder) | UMLS ID:C0265010 | SNOMEDCT ID:34365005 | SNOMEDCT ID:195258006 | DOID:3627 | Thoracic aortic aneurysm which has ruptured | aortic aneurysm +BMGC_DS04565,BMG_DS008410,Ruptured abdominal aortic aneurysm (disorder) | Abdominal aortic aneurysm which has ruptured | Ruptured aneurysm of abdominal aorta | Ruptured abdominal aortic aneurysm | DOID:3627 | UMLS ID:C0265012 | SNOMEDCT ID:14336007 | aortic aneurysm +BMGC_DS04566,BMG_DS008419,Portal vein obstruction (disorder) | UMLS ID:C0265029 | Portal vein obstruction | Hepatic portal vein obstruction | SNOMEDCT ID:57348003 +BMGC_DS04567,BMG_DS008437,SNOMEDCT ID:40283005 | Thrombophlebitis of superficial veins of lower extremity (disorder) | thrombophlebitis | Thrombophlebitis of superficial veins of lower extremity | UMLS ID:C0265057 | DOID:3875 +BMGC_DS04568,BMG_DS008445,MONDO:0001481 | Thrombophlebitis of the femoral vein | UMLS ID:C0265066 | femoral vein thrombophlebitis | Thrombophlebitis of the femoral vein (disorder) | DOID:12282 | SNOMEDCT ID:195410000 +BMGC_DS04569,BMG_DS008462,MeSH ID:D014715 | Vertebrobasilar Insufficiency | UMLS ID:C0265097 | Basilar Artery Stenosis +BMGC_DS04570,BMG_DS008463,basilar artery occlusion | UMLS ID:C0265098 | DOID:13446 | MONDO:0001715 +BMGC_DS04571,BMG_DS008465,"Carotid artery occlusion (& [stenosis] or [thrombosis]) (disorder) | Carotid artery thrombosis | Stenosis, carotid artery | SNOMEDCT ID:266254007 | SNOMEDCT ID:195181000 | Carotid artery obstruction (disorder) | Carotid artery occlusion (& [stenosis] or [thrombosis]) | Thrombosis, carotid artery | Occlusion of carotid artery (disorder) | carotid artery occlusion | Carotid artery occlusion | Carotid artery obstruction | SNOMEDCT ID:155397005 | Carotid artery occlusion (disorder) | Occlusion of carotid artery | MONDO:0004450 | UMLS ID:C0265101 | SNOMEDCT ID:69798007" +BMGC_DS04572,BMG_DS008466,MeSH ID:D014715 | Vertebral Artery Stenosis | Vertebrobasilar Insufficiency | UMLS ID:C0265103 +BMGC_DS04573,BMG_DS008470,"Cerebral Vasospasm | Vasospasm, Intracranial | UMLS ID:C0265110 | MeSH ID:D020301" +BMGC_DS04574,BMG_DS008475,ICD10 ID:I67.81 | Acute cerebrovascular insufficiency (disorder) | SNOMEDCT ID:29322000 | UMLS ID:C0265115 | Acute cerebrovascular insufficiency +BMGC_DS04575,BMG_DS008543,"UMLS ID:C0265201 | OMIM ID:278800 | MeSH ID:C535992 | de Sanctis-Cacchione syndrome | DOID:0112158 | SNOMEDCT ID:414673004 | Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | MONDO:0010217 | Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa | De Sanctis-Cacchione syndrome (disorder) | SNOMEDCT ID:254201008 | Xerodermic idiocy | De Sanctis-Cacchione syndrome" +BMGC_DS04576,BMG_DS008544,UMLS ID:C0265202 | ICD10 ID:Q87.19 | SNOMEDCT ID:57917004 | MONDO:0019342 | Nanocephalic dwarf | Seckel syndrome (disorder) | Bird-headed dwarf | Seckel syndrome | Bird-headed dwarf of Seckel +BMGC_DS04577,BMG_DS008546,Robinow Syndrome | MeSH ID:C562492 | UMLS ID:C0265205 | Robinow syndrome | MONDO:0019978 | DOID:0060254 +BMGC_DS04578,BMG_DS008551,MeSH ID:C536687 | UMLS ID:C0265210 | CLOVES syndrome | ICD10 ID:Q87.3 | OMIM ID:277590 | ICD11 ID:LD2C | MONDO:0010193 | SNOMEDCT ID:63119004 | DOID:0080351 | Weaver syndrome | Weaver syndrome (disorder) | Overgrowth syndromes +BMGC_DS04579,BMG_DS008552,"MONDO:0011244 | OMIM ID:602535 | MeSH ID:C536026 | Marshall-Smith syndrome (disorder) | UMLS ID:C0265211 | DOID:0050858 | SNOMEDCT ID:73284007 | Marshall-Smith syndrome | Accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome" +BMGC_DS04580,BMG_DS008554,MONDO:0019942 | SNOMEDCT ID:24269006 | Distal arthrogryposis syndrome (disorder) | Distal arthrogryposis syndrome | distal arthrogryposis | UMLS ID:C0265213 | Distal arthrogryposis +BMGC_DS04581,BMG_DS008556,"SNOMEDCT ID:29076005 | Meckel syndrome 6 | Meckel syndrome 5 | Meckel syndrome 1 | Cystic or dysplastic kidney disease, unspecified | MONDO:0018921 | ICD10 ID:Q61.9 | Meckel syndrome 2 | Meckel syndrome 4 | Meckel syndrome | Meckel-Gruber syndrome | Dysencephalia splanchnocystica | UMLS ID:C0265215 | Meckel-Gruber syndrome (disorder) | DOID:0070119;DOID:0070118;DOID:0070115;DOID:0070120;DOID:0070117;DOID:0070116;DOID:0070122 | Meckel syndrome 3 | Meckel syndrome 8 | ICD11 ID:GB8Z" +BMGC_DS04582,BMG_DS008557,X-linked hydrocephalus | SNOMEDCT ID:71779008 | X-linked hydrocephalus syndrome (disorder) | MONDO:0010611 | OMIM ID:307000 | X-linked hydrocephalus syndrome | X-linked hydrocephalus with stenosis of the aqueduct of Sylvius | Bickers-Adams syndrome | UMLS ID:C0265216 +BMGC_DS04583,BMG_DS008559,SNOMEDCT ID:253148005 | Miller-Dieker lissencephaly syndrome | Miller Dieker syndrome | Miller-Dieker syndrome | MONDO:0009532 | OMIM ID:247200 | DOID:0060469 | Miller Dieker syndrome (disorder) | UMLS ID:C0265219 +BMGC_DS04584,BMG_DS008560,DOID:9248 | Pallister-Hall syndrome | UMLS ID:C0265220 | SNOMEDCT ID:56677004 | MONDO:0007804 | OMIM ID:146510 | Pallister-Hall syndrome (disorder) +BMGC_DS04585,BMG_DS008561,"Walker-Warburg congenital muscular dystrophy (disorder) | muscular dystrophy-dystroglycanopathy, type A | MONDO:0000171 | HARD (hydrocephalus, agyria, retinal dysplasia) syndrome | Walker Warburg syndrome | UMLS ID:C0265221 | Walker-Warburg congenital muscular dystrophy | Hydrocephalus, agyria and retinal dysplasia | SNOMEDCT ID:111504002" +BMGC_DS04586,BMG_DS008562,Prader-Willi Syndrome | MeSH ID:D011218 | Royer Syndrome | UMLS ID:C0265222 +BMGC_DS04587,BMG_DS008563,MONDO:0008999 | Cohen syndrome | OMIM ID:216550 | UMLS ID:C0265223 | DOID:0111590 +BMGC_DS04588,BMG_DS008564,Distal arthrogryposis type 2A | SNOMEDCT ID:205799002 | SNOMEDCT ID:52616002 | MONDO:0008675 | DOID:0111604 | Whistling face syndrome (disorder) | MeSH ID:C535483 | UMLS ID:C0265224 | OMIM ID:193700 | Whistling face syndrome | Freeman-Sheldon syndrome | Freeman-Sheldon syndrome (disorder) +BMGC_DS04589,BMG_DS008565,UMLS ID:C0265226 | OMIM ID:158300 | Distal arthrogryposis type 7 | Hecht syndrome (disorder) | MONDO:0008016 | Dutch Kentucky syndrome | Hecht Beals syndrome | trismus-pseudocamptodactyly syndrome | Hecht syndrome | Trismus pseudocamptodactyly syndrome | SNOMEDCT ID:8757006 +BMGC_DS04590,BMG_DS008566,Schinzel-Giedion syndrome (disorder) | OMIM ID:269150 | Schinzel-Giedion syndrome | MONDO:0010010 | DOID:0070509 | Schinzel Giedion syndrome | SNOMEDCT ID:18899000 | MeSH ID:C536632 | UMLS ID:C0265227 +BMGC_DS04591,BMG_DS008570,"SNOMEDCT ID:204102004 | MONDO:0009046 | ICD10 ID:Q87.0 | UMLS ID:C0265233 | Warburg micro syndrome 1 | Fraser syndrome | SNOMEDCT ID:34169006 | Cryptophthalmos, defect of auricle AND genital anomaly | Multiple developmental anomalies or syndromes, unspecified | Warburg micro syndrome 3 | Warburg micro syndrome 4 | Cryptophthalmos syndrome (disorder) | DOID:0110716;DOID:0110719;DOID:0110718;DOID:0110717 | Fraser syndrome (disorder) | Warburg micro syndrome 2 | ICD11 ID:LD2Z | Cryptophthalmos syndrome" +BMGC_DS04592,BMG_DS008571,UMLS ID:C0265234 | branchio-oto-renal syndrome | MeSH ID:D019280 | branchiootorenal syndrome | Branchio-Oto-Renal Syndrome | DOID:14702 | MONDO:0007029 +BMGC_DS04593,BMG_DS008572,Marshall syndrome (disorder) | MeSH ID:C536025 | OMIM ID:154780 | Marshall syndrome | UMLS ID:C0265235 | Marshall's syndrome | DOID:0111510 | MONDO:0007949 | SNOMEDCT ID:33410002 +BMGC_DS04594,BMG_DS008574,MONDO:0010759 | Wildervanck's syndrome | SNOMEDCT ID:79665007 | UMLS ID:C0265239 | Wildervanck syndrome | Wildervanck syndrome (disorder) | OMIM ID:314600 | Cervicooculoacoustic syndrome | Cervico-oculofacial syndrome +BMGC_DS04595,BMG_DS008575,DOID:2907 | craniofacial microsomia | MeSH ID:D006053 | Goldenhar syndrome | UMLS ID:C0265240 | MONDO:0015397 | Goldenhar Syndrome +BMGC_DS04596,BMG_DS008577,UMLS ID:C0265242 | MONDO:0008740 | agnathia-otocephaly complex | OMIM ID:202650 +BMGC_DS04597,BMG_DS008579,Nager acrofacial dysostosis syndrome | UMLS ID:C0265245 | MeSH ID:C538184 | OMIM ID:154400 | MONDO:0007943 | Nager syndrome | Nager syndrome (disorder) | Nager acrofacial dysostosis | SNOMEDCT ID:35520007 | Preaxial acrofacial dysostosis +BMGC_DS04598,BMG_DS008580,Townes syndrome (disorder) | Townes-Brocks syndrome | Townes Brocks syndrome | Townes syndrome | MONDO:0007142 | UMLS ID:C0265246 | SNOMEDCT ID:24750000 +BMGC_DS04599,BMG_DS008581,MONDO:0008395 | OMIM ID:180870 | MeSH ID:C579395 | Ruvalcaba Syndrome | Ruvalcaba syndrome | UMLS ID:C0265248 +BMGC_DS04600,BMG_DS008582,MONDO:0009582 | UMLS ID:C0265249 | Mietens syndrome | MeSH ID:C537444 | Mental retardation Mietens Weber type | OMIM ID:249600 +BMGC_DS04601,BMG_DS008583,MONDO:0010704 | otopalatodigital syndrome type 1 | DOID:0111783 | OMIM ID:311300 | UMLS ID:C0265251 | MeSH ID:C536065 | Oto-Palato-digital syndrome type 1 +BMGC_DS04602,BMG_DS008584,SNOMEDCT ID:15182000 | OMIM ID:303600 | CLS - Coffin-Lowry syndrome | Coffin-Lowry syndrome (disorder) | Coffin-Lowry syndrome | MONDO:0010561 | DOID:3783 | UMLS ID:C0265252 +BMGC_DS04603,BMG_DS008585,Stickler syndrome | SNOMEDCT ID:78675000 | MONDO:0019354 | Hereditary arthro-ophthalmopathy | Stickler dysplasia | UMLS ID:C0265253 | Stickler syndrome (disorder) | Wagner-Stickler syndrome | Hereditary progressive arthro-ophthalmopathy +BMGC_DS04604,BMG_DS008586,UMLS ID:C0265255 | SNOMEDCT ID:18077009 | Trichorhinophalangeal syndrome (disorder) | Trichorhinophalangeal syndrome | trichorhinophalangeal syndrome | MONDO:0017951 +BMGC_DS04605,BMG_DS008587,MONDO:0009903 | UMLS ID:C0265257 | DOID:0111259 | postaxial acrofacial dysostosis | Genee-Wiedemann syndrome | MeSH ID:C537680 | OMIM ID:263750 +BMGC_DS04606,BMG_DS008589,PPS - Popliteal pterygium syndrome | DOID:0060055 | SNOMEDCT ID:66783006 | Popliteal pterygium syndrome (disorder) | SNOMEDCT ID:205820002 | popliteal pterygium syndrome | Popliteal pterygium syndrome | MONDO:0017435 | UMLS ID:C0265259 +BMGC_DS04607,BMG_DS008590,"MONDO:0008703 | Chondrodysplasia, Grebe type | MeSH ID:C537915 | acromesomelic dysplasia 2A | UMLS ID:C0265260 | OMIM ID:200700" +BMGC_DS04608,BMG_DS008591,OMIM ID:265000 | UMLS ID:C0265261 | autosomal recessive multiple pterygium syndrome | MONDO:0009926 +BMGC_DS04609,BMG_DS008593,Femoral facial syndrome | Femoral hypoplasia - unusual facies syndrome | SNOMEDCT ID:13280000 | femoral-facial syndrome | OMIM ID:134780 | Femoral hypoplasia - unusual facies syndrome (disorder) | MONDO:0007604 | UMLS ID:C0265263 +BMGC_DS04610,BMG_DS008594,"DOID:0060861;DOID:0060468;DOID:0090024 | Holt-Oram syndrome | ICD10 ID:Q87.2 | OMIM ID:142900 | UMLS ID:C0265264 | SNOMEDCT ID:205814003 | Holt-Oram syndrome (disorder) | microphthalmia with limb anomalies | ICD11 ID:LD2Z | Holt Oram syndrome | Multiple developmental anomalies or syndromes, unspecified | MONDO:0007732 | SNOMEDCT ID:19092004 | split hand-foot malformation 1 with sensorineural hearing loss | MeSH ID:C535326 | Atriodigital dysplasia type 1 | Heart-hand syndrome type 1" +BMGC_DS04611,BMG_DS008595,Congenital hypoplastic anaemia Blackfan-Diamond type | Diamond-Blackfan anemia 6 | DOID:0111879 | MeSH ID:C538442 | UMLS ID:C0265265 | Aase syndrome (disorder) | Blackfan-Diamond anemia | Congenital hypoplastic anemia Blackfan-Diamond type | Congenital pure red cell aplasia | Blackfan-Diamond anaemia | Aase syndrome | Aase Smith II syndrome | SNOMEDCT ID:71988008 +BMGC_DS04612,BMG_DS008596,OMIM ID:308050 | MeSH ID:C562515 | MONDO:0010621 | DOID:0111822 | Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | CHILD syndrome | UMLS ID:C0265267 +BMGC_DS04613,BMG_DS008597,DOID:0060227 | MONDO:0007034 | Adams-Oliver syndrome | UMLS ID:C0265268 +BMGC_DS04614,BMG_DS008598,MeSH ID:C538132 | MONDO:0007872 | Lacrimoauriculodentodigital syndrome | LADD syndrome | UMLS ID:C0265269 +BMGC_DS04615,BMG_DS008599,achondrogenesis type IA | OMIM ID:200600 | MONDO:0008701 | UMLS ID:C0265273 +BMGC_DS04616,BMG_DS008600,OMIM ID:600972 | UMLS ID:C0265274 | achondrogenesis type IB | MONDO:0010966 +BMGC_DS04617,BMG_DS008601,MONDO:0018770 | Jeune thoracic dysplasia | Jeune thoracic dystrophy | SNOMEDCT ID:75049004 | UMLS ID:C0265275 | Asphyxiating thoracic dystrophy | Jeune syndrome | Jeune thoracic dystrophy (disorder) +BMGC_DS04618,BMG_DS008602,Kniest dysplasia | SNOMEDCT ID:240191008 | MONDO:0007987 | DOID:0080045 | Kniest syndrome | Kniest chondrodystrophy | MeSH ID:C537207 | Swiss cheese cartilage dysplasia | Kniest dysplasia (disorder) | OMIM ID:156550 | UMLS ID:C0265279 | SNOMEDCT ID:53974002 +BMGC_DS04619,BMG_DS008603,"Spondylometaphyseal dysplasia, Kozlowski type | DOID:0111554 | spondylometaphyseal dysplasia, Kozlowski type | spondylometaphyseal dysplasia Kozlowski type | MONDO:0008477 | UMLS ID:C0265280 | OMIM ID:184252 | MeSH ID:C535797" +BMGC_DS04620,BMG_DS008604,metatropic dysplasia | DOID:0111514 | OMIM ID:156530 | MONDO:0007986 | UMLS ID:C0265281 +BMGC_DS04621,BMG_DS008605,MONDO:0016068 | fibrochondrogenesis | UMLS ID:C0265282 | DOID:0060465 +BMGC_DS04622,BMG_DS008606,atelosteogenesis type I | UMLS ID:C0265283 | OMIM ID:108720 | MONDO:0007167 +BMGC_DS04623,BMG_DS008607,Dyggve-Melchior-Clausen syndrome | Dyggve-Melchior-Clausen syndrome (disorder) | MeSH ID:C535726 | OMIM ID:223800 | SNOMEDCT ID:82699004 | Dyggve-Melchior-Clausen dysplasia | Dyggve-Melchior-Clausen disease | MONDO:0009130 | UMLS ID:C0265286 +BMGC_DS04624,BMG_DS008608,Acromicric dysplasia | OMIM ID:102370 | acromicric dysplasia | DOID:0111243 | MONDO:0007055 | UMLS ID:C0265287 +BMGC_DS04625,BMG_DS008609,UMLS ID:C0265289 | Metaphyseal chondrodysplasia Schmid type | OMIM ID:156500 | Schmid metaphyseal chondrodysplasia | MONDO:0007983 | MeSH ID:C537352 +BMGC_DS04626,BMG_DS008610,metaphyseal chondrodysplasia | UMLS ID:C0265290 | MONDO:0000138 +BMGC_DS04627,BMG_DS008612,MONDO:0015465 | craniometaphyseal dysplasia | UMLS ID:C0265292 +BMGC_DS04628,BMG_DS008613,UMLS ID:C0265293 | frontometaphyseal dysplasia | DOID:0111785 | MONDO:0015942 +BMGC_DS04629,BMG_DS008614,UMLS ID:C0265294 | SNOMEDCT ID:27837003 | MONDO:0009943 | Pyle metaphyseal dysplasia | Pyle metaphyseal dysplasia (disorder) | Pyle's disease | OMIM ID:265900 | Pyle disease +BMGC_DS04630,BMG_DS008615,"MeSH ID:C537564 | UMLS ID:C0265295 | MONDO:0007982 | OMIM ID:156400 | Jansen type metaphyseal chondrodysplasia | metaphyseal chondrodysplasia, Jansen type" +BMGC_DS04631,BMG_DS008619,SNOMEDCT ID:17568006 | MeSH ID:C537525 | Sclerosteosis | MONDO:0017838 | Sclerosteosis (disorder) | DOID:0060251 | sclerosteosis | UMLS ID:C0265301 +BMGC_DS04632,BMG_DS008621,DOID:14761 | OMIM ID:175700 | MONDO:0008287 | Greig cephalopolysyndactyly syndrome | UMLS ID:C0265306 +BMGC_DS04633,BMG_DS008622,Baller-Gerold syndrome (disorder) | UMLS ID:C0265308 | MeSH ID:C536788 | SNOMEDCT ID:77608001 | OMIM ID:218600 | MONDO:0009039 | Craniosynostosis-radial aplasia syndrome | Baller-Gerold syndrome | DOID:0050654 +BMGC_DS04634,BMG_DS008623,Leri-Weill dyschondrosteosis | MONDO:0007481 | SNOMEDCT ID:17818006 | OMIM ID:127300 | Leri-Weill syndrome | DOID:0060847 | UMLS ID:C0265309 | Leri-Weill dyschondrosteosis (disorder) +BMGC_DS04635,BMG_DS008626,WMS - Weill-Marchesani syndrome | UMLS ID:C0265313 | Marchesani's syndrome | Brachymorphy with spherophakia syndrome | DOID:0050475 | Marchesani syndrome | Marchesani syndrome (disorder) | MONDO:0018096 | Weill-Marchesani syndrome | Spherophakia-brachymorphia syndrome | Weill-Marchesani syndrome (disorder) | SNOMEDCT ID:2884008 | SNOMEDCT ID:205801004 | Brachydactyly-spherophakia syndrome +BMGC_DS04636,BMG_DS008628,MONDO:0042983 | MeSH ID:D020752 | neurocutaneous syndrome | Neurocutaneous Syndromes | UMLS ID:C0265316 +BMGC_DS04637,BMG_DS008631,DOID:3852 | Peutz-Jeghers syndrome | UMLS ID:C0265323 +BMGC_DS04638,BMG_DS008633,"DOID:0050657 | MONDO:0007924 | UMLS ID:C0265326 | OMIM ID:153480 | Bannayan-Riley-Ruvalcaba syndrome | MeSH ID:D006223 | Hamartoma Syndrome, Multiple | Bannayan-Riley-Ruvalcaba Syndrome" +BMGC_DS04639,BMG_DS008635,"MeSH ID:D054000 | UMLS ID:C0265329 | Nevus, Sebaceous of Jadassohn | Organoid Nevus Phakomatosis" +BMGC_DS04640,BMG_DS008636,UMLS ID:C0265331 | Anhidrotic ectodermal dysplasia | Rapp-Hodgkin ectodermal dysplasia syndrome | autosomal dominant hypohidrotic ectodermal dysplasia | Rapp-Hodgkin type of ectodermal dysplasia | SNOMEDCT ID:7731005 | Anhidrotic ectodermal dysplasia syndrome | MONDO:0015884 | Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) | Autosomal dominant hypohidrotic ectodermal dysplasia syndrome | Hypohidrotic ectodermal dysplasia syndrome +BMGC_DS04641,BMG_DS008637,TDO syndrome | Tricho-dento-osseous syndrome (disorder) | trichodontoosseous syndrome | TDO - Trichodento-osseous syndrome | Tricho-dento-osseous syndrome | DOID:0111565 | OMIM ID:190320 | tricho-dento-osseous syndrome | MONDO:0008592 | Amelogenesis imperfecta - osteosclerosis syndrome | Trichodento-osseous syndrome | UMLS ID:C0265333 | SNOMEDCT ID:38993008 | Taurodontism - curly hair - osteosclerosis syndrome +BMGC_DS04642,BMG_DS008638,DOID:0050449 | Pachyonychia Congenita | UMLS ID:C0265334 | pachyonychia congenita | MONDO:0016471 | MeSH ID:D053549 +BMGC_DS04643,BMG_DS008640,"Senter syndrome | MONDO:0007850 | OMIM ID:148210 | Autosomal dominant keratitis, ichthyosis, deafness syndrome | UMLS ID:C0265336 | Autosomal dominant KID (keratitis, ichthyosis, deafness) syndrome | autosomal dominant keratitis-ichthyosis-hearing loss syndrome | SNOMEDCT ID:2625009 | Senter syndrome (disorder)" +BMGC_DS04644,BMG_DS008641,MONDO:0015452 | SNOMEDCT ID:10007009 | UMLS ID:C0265338 | MeSH ID:C536436 | Coffin-Siris syndrome (disorder) | Coffin-Siris syndrome | DOID:1925 +BMGC_DS04645,BMG_DS008642,DOID:0050681 | UMLS ID:C0265339 | Borjeson-Forssman-Lehmann syndrome (disorder) | Borjeson syndrome | Borjeson-Forssman-Lehmann syndrome | MONDO:0010537 | MeSH ID:C536575 | SNOMEDCT ID:21634003 | OMIM ID:301900 +BMGC_DS04646,BMG_DS008643,Rieger's syndrome | Rieger syndrome | Rieger syndrome (disorder) | UMLS ID:C0265341 | SNOMEDCT ID:47507006 | MONDO:0019628 | Rieger anomaly | DOID:14686 | Axenfeld-Rieger syndrome +BMGC_DS04647,BMG_DS008644,OMIM ID:117650 | UMLS ID:C0265342 | Cerebrocostomandibular Syndrome | DOID:0111248 | MONDO:0007301 | cerebrocostomandibular syndrome | MeSH ID:C562538 +BMGC_DS04648,BMG_DS008645,MeSH ID:C537565 | SNOMEDCT ID:61367005 | Jarcho-Levin syndrome | MONDO:0000359 | Jarcho-Levin syndrome (disorder) | Autosomal recessive spondylocostal dysostosis | spondylocostal dysostosis | Spondylothoracic dysplasia | UMLS ID:C0265343 +BMGC_DS04649,BMG_DS008646,Donohue Syndrome | Donohue syndrome | MeSH ID:D056731 | DOID:0050470 | OMIM ID:246200 | MONDO:0009517 | UMLS ID:C0265344 +BMGC_DS04650,BMG_DS008647,lymphedema-distichiasis syndrome | DOID:0111509 | UMLS ID:C0265345 | Lymphedema distichiasis syndrome | MeSH ID:C537710 | OMIM ID:153400 | MONDO:0007922 +BMGC_DS04651,BMG_DS008653,CHARGE syndrome | UMLS ID:C0265354 | CHARGE Syndrome | DOID:0050834 | OMIM ID:214800 | MeSH ID:D058747 | MONDO:0008965 +BMGC_DS04652,BMG_DS008663,MeSH ID:C536683 | Warfarin syndrome | UMLS ID:C0265374 | vitamin K-antagonist embryofetopathy | MONDO:0016010 +BMGC_DS04653,BMG_DS008724,SNOMEDCT ID:395657006 | OMIM ID:601803 | Pallister-Killian syndrome | tetrasomy 12p | Tetrasomy 12p syndrome | SNOMEDCT ID:395652000 | UMLS ID:C0265449 | Tetrasomy 12p syndrome (disorder) | SNOMEDCT ID:9527009 | Killian-Teschler-Nicola syndrome | Pallister mosaic syndrome | Tetrasomy 12p | Pallister-Killian syndrome (disorder) | Isochromosome 12p syndrome | MONDO:0011146 +BMGC_DS04654,BMG_DS008757,ring chromosome 20 | DOID:0070622 | MONDO:0015436 | UMLS ID:C0265482 | ring chromosome 20 syndrome +BMGC_DS04655,BMG_DS008768,Cat eye syndrome | Schachenmann's syndrome | OMIM ID:115470 | MONDO:0007276 | SNOMEDCT ID:26445008 | UMLS ID:C0265493 | CES - Cat eye syndrome | cat-eye syndrome | Cat eye syndrome (disorder) +BMGC_DS04656,BMG_DS008774,"Klinefelter Syndrome | UMLS ID:C0265499 | 49,XXXXY syndrome | MeSH ID:D007713 | MONDO:0019929 | 49,XXXXY Syndrome" +BMGC_DS04657,BMG_DS008778,Buschke-Ollendorff syndrome | Dermato-osteopoikilosis | OMIM ID:166700 | Dermatofibrosis lenticularis disseminata | DOID:0111536 | SNOMEDCT ID:60399005 | Disseminated dermatofibrosis | MONDO:0008157 | Dermatofibrosis lenticularis disseminata (disorder) | UMLS ID:C0265514 | Buschke-Ollendorf syndrome +BMGC_DS04658,BMG_DS008779,MONDO:0000156 | trigonocephaly | UMLS ID:C0265535 +BMGC_DS04659,BMG_DS008780,OMIM ID:155500 | MONDO:0007962 | UMLS ID:C0265552 | megalodactyly +BMGC_DS04660,BMG_DS008781,split hand-foot malformation 4 | split hand-foot malformation 2 | DOID:0090020;DOID:0090023;DOID:0090027;DOID:0090026;DOID:0090025;DOID:0090022 | split hand-foot malformation 3 | split hand-foot malformation 6 | split hand-foot malformation | MONDO:0016576 | UMLS ID:C0265554 | split hand-foot malformation 5 +BMGC_DS04661,BMG_DS008782,UMLS ID:C0265559 | OMIM ID:200500 | acheiropody | MONDO:0008700 +BMGC_DS04662,BMG_DS008783,congenital elbow dislocation | UMLS ID:C0265561 | MONDO:0017469 +BMGC_DS04663,BMG_DS008784,congenital shoulder dislocation | MONDO:0017468 | UMLS ID:C0265562 +BMGC_DS04664,BMG_DS008790,radial hemimelia | MONDO:0019671 | UMLS ID:C0265581 +BMGC_DS04665,BMG_DS008798,MONDO:0017461 | familial isolated clinodactyly of fingers | UMLS ID:C0265610 +BMGC_DS04666,BMG_DS008803,MONDO:0010144 | OMIM ID:275220 | UMLS ID:C0265633 | tibial hemimelia +BMGC_DS04667,BMG_DS008812,DOID:11044 | OMIM ID:230750 | UMLS ID:C0265706 | gastroschisis | Gastroschisis | Gastroschisis (disorder) | OMIM ID:MTHU009129 | SNOMEDCT ID:72951007 | ICD11 ID:LB02 | MONDO:0009264 | ICD10 ID:Q79.3 | MeSH ID:D020139 +BMGC_DS04668,BMG_DS008816,larynx atresia | MONDO:0007879 | OMIM ID:150300 | UMLS ID:C0265756 +BMGC_DS04669,BMG_DS008819,pulmonary agenesis | UMLS ID:C0265780 | MONDO:0020110 +BMGC_DS04670,BMG_DS008820,UMLS ID:C0265783 | pulmonary hypoplasia | MONDO:0800133 +BMGC_DS04671,BMG_DS008822,UMLS ID:C0265797 | MONDO:0007536 | OMIM ID:130710 | congenital lobar emphysema +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,Congenital poikiloderma | SNOMEDCT ID:70041004 | Erythrokeratodermia variabilis (disorder) | MONDO:0017851 | Erythrokeratodermia variabilis | UMLS ID:C0265961 | Mendes da Costa syndrome | DOID:0050467 | erythrokeratodermia variabilis +BMGC_DS04675,BMG_DS008854,ichthyosis linearis circumflexa | UMLS ID:C0265962 | MONDO:0043106 | SNOMEDCT ID:312514006 | Comel-Netherton syndrome | OMIM ID:MTHU010704 | Netherton syndrome (disorder) | Netherton syndrome | Netherton's syndrome | DOID:0050474 | Ichthyosis linearis circumflexa | SNOMEDCT ID:54336006 | Ichthyosis linearis circumflexa (disorder) | Axial osteosclerosis with bamboo hair +BMGC_DS04676,BMG_DS008855,UMLS ID:C0265964 | DOID:0111339 | keratoderma hereditarium mutilans | MONDO:0007422 | Vohwinkel syndrome | OMIM ID:124500 +BMGC_DS04677,BMG_DS008856,UMLS ID:C0265965 | MONDO:0015780 | DOID:2729 | dyskeratosis congenita | MeSH ID:D019871 | Dyskeratosis Congenita +BMGC_DS04678,BMG_DS008857,Witkop's disease | SNOMEDCT ID:68897000 | Witkop-Brearley-Gentry syndrome | Witkop's syndrome | Hereditary benign intraepithelial dyskeratosis (disorder) | hereditary benign intraepithelial dyskeratosis | UMLS ID:C0265966 | Hereditary benign intraepithelial dyskeratosis | SNOMEDCT ID:400014002 | Witkop-von Sallman syndrome | Witkop-Von Sallmann disease | OMIM ID:127600 | MONDO:0007486 +BMGC_DS04679,BMG_DS008858,"Porokeratosis | UMLS ID:C0265970 | disseminated superficial actinic porokeratosis | DOID:3805 | MeSH ID:D017499 | MONDO:0019212 | porokeratosis | Porokeratosis, Disseminated Superficial Actinic" +BMGC_DS04680,BMG_DS008859,MeSH ID:D007644 | OMIM ID:101900 | Acrokeratosis Verruciformis of Hopf | acrokeratosis verruciformis | Darier Disease | MONDO:0007048 | UMLS ID:C0265971 +BMGC_DS04681,BMG_DS008862,DOID:4702 | UMLS ID:C0265985 | MONDO:0006582 | mongolian spot +BMGC_DS04682,BMG_DS008863,MONDO:0014873 | OMIM ID:617025 | UMLS ID:C0265987 | nevus comedonicus syndrome +BMGC_DS04683,BMG_DS008867,nonsyndromic congenital nail disorder 4 | MONDO:0008798 | OMIM ID:206800 | UMLS ID:C0265998 +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 | Bart-Pumphrey syndrome | MeSH ID:C537210 | MONDO:0007866 | OMIM ID:149200 | UMLS ID:C0266004" +BMGC_DS04686,BMG_DS008870,SNOMEDCT ID:67817003 | Pili torti-deafness syndrome | Pili torti-deafness syndrome (disorder) | DOID:0050677 | OMIM ID:262000 | Bjornstad syndrome | MONDO:0009872 | Bjornstad's syndrome | UMLS ID:C0266006 +BMGC_DS04687,BMG_DS008872,OMIM ID:163700 | MONDO:0008101 | UMLS ID:C0266011 | familial supernumerary nipples +BMGC_DS04688,BMG_DS008875,OMIM ID:168200 | UMLS ID:C0266029 | Paramolar tubercle of bolk | MONDO:0008194 +BMGC_DS04689,BMG_DS008877,OMIM ID:MTHU007744 | Taurodontism | ICD10 ID:K00.2 | MONDO:0010098 | taurodontism | ICD11 ID:LA30.4 | Abnormalities of size or form of teeth | MeSH ID:C536946 | OMIM ID:272700 | UMLS ID:C0266039 | SNOMEDCT ID:51744007 | Taurodontism (disorder) +BMGC_DS04690,BMG_DS008889,MONDO:0009944 | UMLS ID:C0266159 | pyloric atresia | OMIM ID:265950 +BMGC_DS04691,BMG_DS008890,MONDO:0009476 | atresia of small intestine | OMIM ID:243600 | UMLS ID:C0266172 +BMGC_DS04692,BMG_DS008891,duodenal atresia | UMLS ID:C0266174 | MONDO:0009126 | OMIM ID:223400 +BMGC_DS04693,BMG_DS008897,isolated agenesis of gallbladder | MONDO:0007642 | UMLS ID:C0266251 | OMIM ID:137040 +BMGC_DS04694,BMG_DS008900,MONDO:0019854 | UMLS ID:C0266283 | thyroid ectopia +BMGC_DS04695,BMG_DS008901,"UMLS ID:C0266294 | renal agenesis, unilateral | MONDO:0019636" +BMGC_DS04696,BMG_DS008902,MONDO:0019637 | renal hypoplasia | UMLS ID:C0266295 +BMGC_DS04697,BMG_DS008903,Primitive renal tubule syndrome | Renal tubular dysgenesis (disorder) | MONDO:0017609 | Renal tubular dysgenesis | SNOMEDCT ID:702397002 | Allanson Pantzar McLeod syndrome | MeSH ID:C537048 | UMLS ID:C0266313 | renal tubular dysgenesis +BMGC_DS04698,BMG_DS008909,"true hermaphroditism | Ovotesticular Disorders of Sex Development | MeSH ID:D050090 | Hermaphroditism, True | UMLS ID:C0266361 | MONDO:0002768" +BMGC_DS04699,BMG_DS008910,MONDO:0008635 | UMLS ID:C0266383 | uterine anomalies | OMIM ID:192000 +BMGC_DS04700,BMG_DS008917,"OMIM ID:273250 | Vanishing testes syndrome | SNOMEDCT ID:53599007 | Testicular regression syndrome | MONDO:8000015 | Testicular regression - embryonic | Testicular regression syndrome (disorder) | XY Gonadal agenesis syndrome | MeSH ID:C537770 | UMLS ID:C0266427 | 46,XY sex reversal 11 | SNOMEDCT ID:236797008" +BMGC_DS04701,BMG_DS008918,"OMIM ID:238320 | Leydig cell hypoplasia, type 1 | UMLS ID:C0266432 | MONDO:0009384" +BMGC_DS04702,BMG_DS008920,lissencephaly spectrum disorders | DOID:0050453 | UMLS ID:C0266463 | MONDO:0018838 | lissencephaly +BMGC_DS04703,BMG_DS008921,UMLS ID:C0266464 | polymicrogyria | MONDO:0000087 +BMGC_DS04704,BMG_DS008922,UMLS ID:C0266468 | DOID:0060264 | pontocerebellar hypoplasia +BMGC_DS04705,BMG_DS008924,lissencephaly | DOID:0050453 | UMLS ID:C0266483 +BMGC_DS04706,BMG_DS008925,UMLS ID:C0266484 | MONDO:0010011 | OMIM ID:269160 | schizencephaly +BMGC_DS04707,BMG_DS008926,UMLS ID:C0266487 | MeSH ID:D009069 | Etat Marbre | Movement Disorders +BMGC_DS04708,BMG_DS008928,Neuronal heterotopia (disorder) | UMLS ID:C0266491 | Neuronal heterotopia | SNOMEDCT ID:253150002 | Neuronal heterotopia (morphologic abnormality) | Gray matter heterotopia | SNOMEDCT ID:448041008 | Grey matter heterotopia | OMIM ID:MTHU060692 | Cortical heterotopia +BMGC_DS04709,BMG_DS008932,MeSH ID:C535908 | UMLS ID:C0266521 | OMIM ID:154600 | DOID:560 | MONDO:0007946 | Marcus Gunn phenomenon | jaw-winking syndrome +BMGC_DS04710,BMG_DS008933,DOID:0060844 | UMLS ID:C0266526 | Norrie disease | MONDO:0010691 | OMIM ID:310600 +BMGC_DS04711,BMG_DS008936,OMIM ID:116800 | UMLS ID:C0266537 | MONDO:0007290 | cataract 5 multiple types +BMGC_DS04712,BMG_DS008937,MONDO:0021548 | total early-onset cataract | UMLS ID:C0266539 +BMGC_DS04713,BMG_DS008938,Axenfeld anomaly | UMLS ID:C0266548 | MONDO:0020368 +BMGC_DS04714,BMG_DS008939,UMLS ID:C0266568 | MONDO:0019631 | persistent hyperplastic primary vitreous | DOID:0060282 +BMGC_DS04715,BMG_DS008940,DOID:0060261 | UMLS ID:C0266573 | congenital ptosis +BMGC_DS04716,BMG_DS008944,ear malformation | OMIM ID:128600 | MONDO:0007500 | UMLS ID:C0266589 +BMGC_DS04717,BMG_DS008947,OMIM ID:236100 | UMLS ID:C0266667 | MONDO:0009349 | holoprosencephaly 1 +BMGC_DS04718,BMG_DS008957,Compression of umbilical cord | SNOMEDCT ID:79222000 | UMLS ID:C0266798 | Compression of umbilical cord (disorder) +BMGC_DS04719,BMG_DS008976,"MONDO:0016829 | Visceral Myopathy, Familial | familial visceral myopathy | MeSH ID:C562574 | UMLS ID:C0266833" +BMGC_DS04720,BMG_DS008981,Dental caries extending into dentin | Dentin caries | SNOMEDCT ID:442551007 | Dental caries extending into dentin (disorder) | DOID:10461 | Dentine caries | MONDO:0001041 | UMLS ID:C0266846 | Dental caries extending into dentine | dentin caries +BMGC_DS04721,BMG_DS008985,Enamel caries | Cavitated lesion limited to enamel | Enamel caries (disorder) | UMLS ID:C0266853 | Simple dental caries | SNOMEDCT ID:80353004 | Simple dental cavity | MONDO:0002233 | DOID:217 | enamel caries | Dental caries confined to enamel +BMGC_DS04722,BMG_DS009004,External resorption of root of tooth | Pathological tooth resorption - external | External resorption of tooth (disorder) | external pathological resorption | UMLS ID:C0266878 | SNOMEDCT ID:41918006 | MONDO:0001988 | External resorption of tooth | DOID:14529 +BMGC_DS04723,BMG_DS009018,DOID:0060324 | ICD10 ID:K04.6 | UMLS ID:C0266909 | Periapical abscess with sinus | dental abscess | ICD11 ID:DA09.61 +BMGC_DS04724,BMG_DS009022,SNOMEDCT ID:59898000 | gingival recession | Localized gingival recession | Localised gingival recession | DOID:1134 | UMLS ID:C0266916 | Localized gingival recession (disorder) +BMGC_DS04725,BMG_DS009025,Epulides | Gingival Diseases | epulis | MONDO:0003396 | UMLS ID:C0266919 | DOID:5337 | MeSH ID:D005882 +BMGC_DS04726,BMG_DS009033,"MONDO:0009850;MONDO:0005593 | UMLS ID:C0266929 | OMIM ID:260950 | Chronic Periodontitis | chronic periodontitis | periodontitis, chronic, adult | MeSH ID:D055113" +BMGC_DS04727,BMG_DS009077,"Benign lymphoepithelial salivary gland lesion | SNOMEDCT ID:45517002 | Benign lymphoepithelial lesion of salivary gland | ICD11 ID:DA04.Z | benign lymphoepithelial lesion of salivary gland | MONDO:0001598 | DOID:12899 | UMLS ID:C0266995 | ICD10 ID:K11.8 | Diseases of salivary glands, unspecified | Benign lymphoepithelial lesion of salivary gland (disorder)" +BMGC_DS04728,BMG_DS009080,MeSH ID:D054243 | vesicular stomatitis | Vesicular Stomatitis | MONDO:0025028 | UMLS ID:C0266999 +BMGC_DS04729,BMG_DS009095,actinic cheilitis | SNOMEDCT ID:46795000 | Solar keratosis of lip | MONDO:0043300 | Actinic cheilitis | SNOMEDCT ID:200839009 | MeSH ID:C535669 | Actinic cheilitis (disorder) | UMLS ID:C0267026 +BMGC_DS04730,BMG_DS009114,Erosive esophagitis (disorder) | SNOMEDCT ID:40719004 | Erosive oesophagitis | Erosive esophagitis | UMLS ID:C0267055 +BMGC_DS04731,BMG_DS009126,Oropharyngeal Dysphagia | Deglutition Disorders | MeSH ID:D003680 | UMLS ID:C0267071 +BMGC_DS04732,BMG_DS009127,UMLS ID:C0267072 | Deglutition Disorders | MeSH ID:D003680 | Esophageal Dysphagia +BMGC_DS04733,BMG_DS009136,MONDO:0004697 | UMLS ID:C0267095 | DOID:9021 | esophageal leukoplakia +BMGC_DS04734,BMG_DS009146,Acute gastric mucosal erosion (disorder) | UMLS ID:C0267112 | Acute erosion of stomach | Acute gastric mucosal erosion | SNOMEDCT ID:18665000 +BMGC_DS04735,BMG_DS009184,MeSH ID:C535952 | eosinophilic gastritis | Eosinophilic gastritis | DOID:4030 | UMLS ID:C0267154 | SNOMEDCT ID:196738004 | SNOMEDCT ID:66329006 | MONDO:0002840 | Eosinophilic gastritis (disorder) +BMGC_DS04736,BMG_DS009203,SNOMEDCT ID:713704004 | UMLS ID:C0267176 | Gastroparesis due to diabetes mellitus (disorder) | Gastroparesis with diabetes mellitus | Gastroparesis due to diabetes mellitus +BMGC_DS04737,BMG_DS009207,DOID:12234 | UMLS ID:C0267183 | Cascade stomach (disorder) | cascade stomach | SNOMEDCT ID:54051005 | MONDO:0001469 | Cascade stomach +BMGC_DS04738,BMG_DS009227,Gastric Antral Vascular Ectasia | MONDO:0006767 | gastric antral vascular ectasia | DOID:2493 | UMLS ID:C0267211 | MeSH ID:D020252 +BMGC_DS04739,BMG_DS009295,Acute peptic ulcer with haemorrhage | UMLS ID:C0267288 | SNOMEDCT ID:12274003 | SNOMEDCT ID:196684004 | Acute peptic ulcer with haemorrhage (disorder) | Acute peptic ulcer with hemorrhage | SNOMEDCT ID:155702008 | Acute peptic ulcer with hemorrhage (disorder) +BMGC_DS04740,BMG_DS009344,Vascular ectasia of intestine | Angiodysplasia of intestine (disorder) | Intestinal vascular dysplasia | SNOMEDCT ID:235853006 | angiodysplasia of intestine | MONDO:0001138 | DOID:10846 | UMLS ID:C0267367 | Angiodysplasia of intestine | Angiectasia of intestine +BMGC_DS04741,BMG_DS009350,SNOMEDCT ID:54597004 | Chronic colitis | UMLS ID:C0267375 | Chronic colitis (disorder) +BMGC_DS04742,BMG_DS009360,UMLS ID:C0267387 | Severe chronic ulcerative colitis | Severe chronic ulcerative colitis (disorder) | Fulminant ulcerative colitis | SNOMEDCT ID:14311001 +BMGC_DS04743,BMG_DS009363,ulcerative proctosigmoiditis | UMLS ID:C0267390 | Ulcerative proctosigmoiditis | Chronic ulcerative rectosigmoiditis (disorder) | Ulcerative colitis confined to rectum and sigmoid colon | Ulcerative rectosigmoiditis | SNOMEDCT ID:52506002 | Chronic ulcerative proctosigmoiditis | MONDO:0007005 | Chronic ulcerative rectosigmoiditis +BMGC_DS04744,BMG_DS009405,SNOMEDCT ID:69980003 | Non-infective diarrhea | Non-infective diarrhea (disorder) | Presumed non-infectious diarrhoea | UMLS ID:C0267436 | MONDO:0045030 | Non-infective diarrhoea | Presumed non-infectious diarrhea | non-infectious diarrheal disease +BMGC_DS04745,BMG_DS009427,Stenosis of intestine (disorder) | Stenosis of intestine | SNOMEDCT ID:23065003 | UMLS ID:C0267465 | Enterostenosis +BMGC_DS04746,BMG_DS009444,Ulceration of colon | SNOMEDCT ID:197253001 | Colonic ulcer | SNOMEDCT ID:46040000 | UMLS ID:C0267491 | Ulceration of colon (disorder) +BMGC_DS04747,BMG_DS009450,Meckel diverticulitis | DOID:8408 | SNOMEDCT ID:48241004 | Meckel's diverticulitis (disorder) | Meckel's diverticulitis | MONDO:0004551 | UMLS ID:C0267497 +BMGC_DS04748,BMG_DS009455,SNOMEDCT ID:280991008 | MONDO:0001229 | UMLS ID:C0267502 | DOID:11223 | Diverticulitis of small intestine | SNOMEDCT ID:56165008 | small intestine diverticulitis | Diverticulitis of small intestine (disorder) +BMGC_DS04749,BMG_DS009461,ICD10 ID:K59.04 | Chronic idiopathic constipation (disorder) | Chronic idiopathic constipation | SNOMEDCT ID:82934008 | UMLS ID:C0267509 +BMGC_DS04750,BMG_DS009504,SNOMEDCT ID:65979008 | Drug AND/OR toxin-induced diarrhea (disorder) | Drug and toxin-induced diarrhea | Drug AND/OR toxin-induced diarrhea | UMLS ID:C0267558 | Drug AND/OR toxin-induced diarrhoea +BMGC_DS04751,BMG_DS009580,"Congenital secretory diarrhoea, chloride type | congenital secretory chloride diarrhea 1 | OMIM ID:214700 | Congenital chloridorrhea | Congenital chloridorrhoea | SNOMEDCT ID:24412005 | MONDO:0008964 | DOID:0060296 | MeSH ID:C536210 | UMLS ID:C0267662 | Congenital chloride diarrhoea | Congenital secretory diarrhea, chloride type | Congenital chloride diarrhea | Defective Cl^-^/HCO^-^>3< exchange in ileum AND/OR colon | Congenital secretory diarrhea, chloride type (disorder)" +BMGC_DS04752,BMG_DS009581,"Congenital sodium diarrhoea | Non-syndromic congenital sodium diarrhea | Congenital secretory diarrhea, sodium type (disorder) | Congenital secretory diarrhea, sodium type | Non-syndromic congenital sodium diarrhoea | Defective Na^+^/H^+^ exchange in jejunum AND/OR ileum | SNOMEDCT ID:18805001 | Congenital secretory diarrhoea, sodium type | UMLS ID:C0267663 | congenital sodium diarrhea | Congenital sodium diarrhea | MONDO:0015170" +BMGC_DS04753,BMG_DS009603,UMLS ID:C0267725 | Thoracic stomach | Gastroesophageal hernia | Paraoesophageal hernia | Rolling hiatus hernia | OMIM ID:MTHU038976 | Paraesophageal hernia | SNOMEDCT ID:3662000 | hiatus hernia | DOID:12642 | Paraesophageal hernia (disorder) | Gastrooesophageal hernia | Paraesophageal hiatus hernia | Paraoesophageal hiatus hernia +BMGC_DS04754,BMG_DS009647,Hepatobiliary Disorder | MeSH ID:D004066 | MONDO:0002515 | Digestive System Diseases | UMLS ID:C0267792 | hepatobiliary disease | hepatobiliary disorder | DOID:3118 +BMGC_DS04755,BMG_DS009652,UMLS ID:C0267797 | OMIM ID:MTHU023293 | Acute hepatitis | SNOMEDCT ID:37871000 | Acute hepatitis (disorder) +BMGC_DS04756,BMG_DS009664,"Cirrhosis, Cryptogenic | MeSH ID:C562577 | UMLS ID:C0267809" +BMGC_DS04757,BMG_DS009682,Cyst of liver | SNOMEDCT ID:197373008 | Liver cyst (disorder) | Hepatic cyst | Cyst of liver (disorder) | Liver cyst | SNOMEDCT ID:85057007 | SNOMEDCT ID:301031003 | UMLS ID:C0267834 +BMGC_DS04758,BMG_DS009687,UMLS ID:C0267841 | Acalculous Cholecystitis | DOID:2828 | MONDO:0006633 | MeSH ID:D042101 | acalculous cholecystitis +BMGC_DS04759,BMG_DS009748,DOID:14271 | SNOMEDCT ID:6215006 | Acute cholangitis (disorder) | Acute cholangitis | MONDO:0001930 | UMLS ID:C0267917 | acute cholangitis | OMIM ID:MTHU060449 +BMGC_DS04760,BMG_DS009749,DOID:9439 | UMLS ID:C0267918 | MONDO:0004786 | Chronic cholangitis | chronic cholangitis | Chronic cholangitis (disorder) | SNOMEDCT ID:71912000 +BMGC_DS04761,BMG_DS009750,Primary cholangitis | UMLS ID:C0267919 | SNOMEDCT ID:17266006 | ICD10 ID:K83.09 | Primary cholangitis (disorder) +BMGC_DS04762,BMG_DS009754,SNOMEDCT ID:69850007 | Suppurative cholangitis | Suppurative cholangitis (disorder) | UMLS ID:C0267924 | DOID:14269 | MONDO:0001928 | ICD10 ID:K83.09 | suppurative cholangitis | SNOMEDCT ID:197437002 +BMGC_DS04763,BMG_DS009765,"MeSH ID:D000081032 | DOID:0080999 | UMLS ID:C0267940 | MONDO:0850421 | Pancreatitis, Acute Hemorrhagic | acute hemorrhagic pancreatitis" +BMGC_DS04764,BMG_DS009766,"UMLS ID:C0267941 | Pancreatitis, Acute Necrotizing | MeSH ID:D019283 | DOID:0080998 | Pancreatitis Necrotizing | MONDO:0850420 | acute necrotizing pancreatitis" +BMGC_DS04765,BMG_DS009777,MeSH ID:D010195 | Pancreatitis | UMLS ID:C0267954 | Peripancreatic Fat Necrosis +BMGC_DS04766,BMG_DS009784,Exocrine pancreatic insufficiency (disorder) | Pancreatic exocrine insufficiency | DOID:13316 | ICD10 ID:K86.81 | exocrine pancreatic insufficiency | UMLS ID:C0267963 | Exocrine pancreatic insufficiency | SNOMEDCT ID:47367009 | MONDO:0001684 | OMIM ID:MTHU010290 | EPI - exocrine pancreatic insufficiency +BMGC_DS04767,BMG_DS009823,Disorder of acid-base balance | Disorder of acid-base balance (disorder) | SNOMEDCT ID:26436007 | UMLS ID:C0268029 | disorder of acid-base balance | MONDO:0041261 | Disturbance of acid-base balance +BMGC_DS04768,BMG_DS009850,Neonatal hemochromatosis (disorder) | UMLS ID:C0268059 | SNOMEDCT ID:6160004 | Neonatal haemochromatosis | OMIM ID:231100 | neonatal hemochromatosis | ICD10 ID:P78.84 | OMIM ID:MTHU023490 | MeSH ID:C536394 | Idiopathic neonatal haemochromatosis | Idiopathic neonatal hemochromatosis | Neonatal hemochromatosis | MONDO:0009275 +BMGC_DS04769,BMG_DS009851,UMLS ID:C0268060 | MeSH ID:C537247 | Juvenile haemochromatosis | Hemochromatosis type 2 | DOID:0111034 | hemochromatosis type 2 | MONDO:0019257 | Juvenile hemochromatosis (disorder) | Juvenile hemochromatosis | SNOMEDCT ID:50855007 | Haemochromatosis type 2 +BMGC_DS04770,BMG_DS009861,Hypocupraemia | Hypocupremia (disorder) | Hypocupremia | SNOMEDCT ID:19577007 | UMLS ID:C0268070 | Chronic copper deficiency | Copper deficiency +BMGC_DS04771,BMG_DS009869,"MeSH ID:C562581 | UMLS ID:C0268080 | Hypercalcemia, Idiopathic, of Infancy" +BMGC_DS04772,BMG_DS009878,Keshan disease | MONDO:0000241 | ICD10 ID:E59 | Congestive cardiomyopathy due to selenium deficiency | Keshan disease (disorder) | DOID:0050083 | UMLS ID:C0268095 | SNOMEDCT ID:46939000 | MeSH ID:C536166 +BMGC_DS04773,BMG_DS009887,Chronic gouty arthritis | SNOMEDCT ID:68451005 | UMLS ID:C0268108 | Chronic articular gout | Chronic gouty arthritis (disorder) | Chronic arthritis due to gout +BMGC_DS04774,BMG_DS009895,"OMIM ID:300323 | hypoxanthine guanine phosphoribosyltransferase partial deficiency | UMLS ID:C0268117 | MeSH ID:C562583 | Gout, HPRT-Related | MONDO:0010299" +BMGC_DS04775,BMG_DS009896,"MeSH ID:C562584 | UMLS ID:C0268118 | DOID:0070452 | OMIM ID:278300 | Xanthinuria, Type I | MONDO:0010209 | xanthinuria type I" +BMGC_DS04776,BMG_DS009897,"Hereditary xanthinuria, type 2 | Hereditary xanthinuria type 2 | SNOMEDCT ID:29692004 | Combined molybdoflavoprotein enzyme deficiency (disorder) | MONDO:0020480 | Deficiency of molybdenum cofactor | Molybdenum cofactor deficiency | Combined xanthine oxidase and aldehyde oxidase deficiency | sulfite oxidase deficiency due to molybdenum cofactor deficiency | Combined xanthine oxidase and sulphite oxidase and aldehyde oxidase deficiency | UMLS ID:C0268119 | Combined molybdoflavoprotein enzyme deficiency | Xanthine oxidase-sulphite oxidase deficiency | Xanthine oxidase-sulfite oxidase deficiency | Combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency" +BMGC_DS04777,BMG_DS009898,MONDO:0013869 | Adenine phosphoribosyltransferase deficiency (disorder) | adenine phosphoribosyltransferase deficiency | DOID:0060350 | SNOMEDCT ID:11852004 | OMIM ID:614723 | UMLS ID:C0268120 | MeSH ID:C538228 | Adenine phosphoribosyltransferase deficiency +BMGC_DS04778,BMG_DS009899,"Adenine phosphoribosyltransferase (APRT) deficiency, Japanese type | Adenine phosphoribosyltransferase deficiency, Japanese type | Adenine phosphoribosyltransferase deficiency, Japanese type (disorder) | UMLS ID:C0268121 | SNOMEDCT ID:65791008 | APRT deficiency, Japanese type" +BMGC_DS04779,BMG_DS009902,Deficiency of adenosine deaminase | Adenosine-deaminase deficiency | DOID:5810 | Adenosine deaminase deficiency | SNOMEDCT ID:190999009 | SNOMEDCT ID:44940001 | ADA deficiency | (Adenosine deaminase deficiency) or (other specified disturbance of amino acid metabolism) | MeSH ID:C531816 | adenosine deaminase deficiency | SNOMEDCT ID:190738006 | Adenosine aminohydrolase deficiency | UMLS ID:C0268124 | (Adenosine deaminase deficiency) or (other specified disturbance of amino acid metabolism) (disorder) | ADA - Adenosine aminohydrolase deficiency | Other specified disturbance of amino-acid metabolism | Adenosine deaminase deficiency (disorder) +BMGC_DS04780,BMG_DS009903,Nucleoside phosphorylase deficiency | Deficiency of inosine phosphorylase | Purine nucleoside phosphorylase deficiency | Purine-nucleoside phosphorylase deficiency | purine nucleoside phosphorylase deficiency | Purine-nucleoside phosphorylase deficiency (disorder) | DOID:5813 | OMIM ID:613179 | UMLS ID:C0268125 | SNOMEDCT ID:60743005 | PNP - Purine nucleoside phosphorylase deficiency | NP deficiency | Deficiency of purine-nucleoside phosphorylase | MONDO:0013171 | PNP deficiency | NP - Nucleoside phosphorylase deficiency +BMGC_DS04781,BMG_DS009904,Adenylosuccinate lyase deficiency (disorder) | ASase - Adenylosuccinate lyase deficiency | adenylosuccinate lyase deficiency | Succinyladenosinuria | OMIM ID:103050 | MONDO:0007068 | SNOMEDCT ID:15285008 | Adenylosuccinate lyase deficiency | Deficiency of adenylosuccinate lyase | UMLS ID:C0268126 | Adenylosuccinate deficiency | Succinylpurinaemic autism | Succinylpurinemic autism +BMGC_DS04782,BMG_DS009907,"Hereditary orotic aciduria, type 1 (disorder) | Hereditary orotic aciduria type 1 | UMPS - Uridine monophosphate synthase deficiency | Uridine monophosphate synthase deficiency | UMP synthase deficiency | Combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency | UMLS ID:C0268130 | OPRT AND OMP decarboxylase deficiency | SNOMEDCT ID:69525003 | Orotidylic pyrophosphorylase orotidylic decarboxylase deficiency | Hereditary orotic aciduria, type 1" +BMGC_DS04783,BMG_DS009910,"SNOMEDCT ID:43477006 | Xeroderma pigmentosum group A | UMLS ID:C0268135 | OMIM ID:278700 | Xeroderma pigmentosum, group A | xeroderma pigmentosum group A | MONDO:0010210 | Xeroderma pigmentosum, group A (disorder)" +BMGC_DS04784,BMG_DS009911,"Xeroderma pigmentosum, group B | Xeroderma pigmentosum, group B (disorder) | SNOMEDCT ID:1073003 | MONDO:0012531 | Xeroderma pigmentosum group B | UMLS ID:C0268136 | OMIM ID:610651 | xeroderma pigmentosum group B" +BMGC_DS04785,BMG_DS009912,"MONDO:0010212 | Xeroderma Pigmentosum, Complementation Group D | xeroderma pigmentosum group D | MeSH ID:C562591 | OMIM ID:278730 | UMLS ID:C0268138" +BMGC_DS04786,BMG_DS009913,OMIM ID:278760 | xeroderma pigmentosum group F | UMLS ID:C0268140 | MONDO:0010215 +BMGC_DS04787,BMG_DS009914,"UMLS ID:C0268141 | MONDO:0010216 | OMIM ID:278780 | Xeroderma pigmentosum, group G (disorder) | xeroderma pigmentosum group G | SNOMEDCT ID:36454001 | Xeroderma pigmentosum, group G | Xeroderma pigmentosum group G" +BMGC_DS04788,BMG_DS009918,OMIM ID:232240 | glycogen storage disease Ib | MONDO:0009288 | Glucose 6-phosphate transport defect | Glucose-6-phosphate transport defect (disorder) | UMLS ID:C0268146 | SNOMEDCT ID:30102006 | OMIM ID:232220 | Glycogen storage disease type Ib | Glucose-6-phosphate transport defect +BMGC_DS04789,BMG_DS009919,"Glycogen storage disease type 9 | UMLS ID:C0268147 | Glycogen storage disease, type IX | Glycogen storage disease, type IX (disorder) | SNOMEDCT ID:40191005" +BMGC_DS04790,BMG_DS009921,UMLS ID:C0268149 | Muscle phosphoglycerate mutase deficiency | Muscle phosphoglycerate mutase deficiency (disorder) | Glycogen storage disease type X | MONDO:0009865 | Phosphoglucomutase deficiency | SNOMEDCT ID:37666005 | GSD X | Glycogenosis due to inactive phosphorylase AND kinase | SNOMEDCT ID:61772003 | OMIM ID:261670 | Glycogen storage disease type X (disorder) | glycogen storage disease due to phosphoglycerate mutase deficiency | GSD X - glycogen storage disease type X +BMGC_DS04791,BMG_DS009922,Transferase deficiency galactosemia | Deficiency of galactose-1-phosphate uridyl transferase | DOID:0111459 | Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder) | Deficiency of hexose-1-phosphate uridylyltransferase | SNOMEDCT ID:124354006 | classic galactosemia | Galactose-1-phosphate uridyl transferase deficiency | Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase | Classical galactosemia | Classical galactosaemia | Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder) | OMIM ID:230400 | SNOMEDCT ID:124353000 | UMLS ID:C0268151 | Deficiency of galactose-1-phosphate uridylyltransferase | GALT deficiency | Classical galactosemia (disorder) | Deficiency of uridyl transferase | Transferase deficiency galactosaemia | Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) | GALT | Deficiency of UTP-hexose-1-phosphate uridylyltransferase | Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase | MONDO:0009258 | SNOMEDCT ID:398664009 | SNOMEDCT ID:22436005 | UTP-hexose-1-phosphate uridyltransferase deficiency | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Galactose-1-phosphate uridyltransferase deficiency +BMGC_DS04792,BMG_DS009923,"Classical galactosemia, homozygous Duarte-type (disorder) | SNOMEDCT ID:10899004 | UMLS ID:C0268152 | Classical galactosaemia, homozygous Duarte-type | Classical galactosemia, homozygous Duarte-type" +BMGC_DS04793,BMG_DS009926,Galactosemia - galactokinase deficiency | MONDO:0009255 | Galactokinase deficiency galactosaemia | Deficiency of galactokinase (disorder) | Galactosaemia - galactokinase deficiency | galactokinase deficiency | SNOMEDCT ID:124302001 | DOID:14695 | UMLS ID:C0268155 | GALK (galactokinase) deficiency | Galactokinase deficiency | Galactosaemia II | Galactokinase deficiency galactosemia | OMIM ID:230200 | Galactosemia II | Deficiency of galactokinase +BMGC_DS04794,BMG_DS009928,Deficiency of fructokinase (disorder) | Deficiency of fructokinase | MONDO:0009252 | SNOMEDCT ID:124300009 | OMIM ID:229800 | essential fructosuria | DOID:0111680 | UMLS ID:C0268160 +BMGC_DS04795,BMG_DS009930,MONDO:0009846 | UMLS ID:C0268162 | DOID:0111258 | OMIM ID:260800 | pentosuria | MeSH ID:C536652 | Pentosuria +BMGC_DS04796,BMG_DS009932,"Glycolic aciduria | primary hyperoxaluria type 1 | Primary hyperoxaluria type I | UMLS ID:C0268164 | Primary hyperoxaluria, type I | 2-Oxoglutarate glyoxylate carboligase deficiency | Alanine-glycoxylate aminotransferase deficiency | MONDO:0009823 | Alanine-glyoxylate aminotransferase deficiency | Oxalosis type I | DOID:0111670 | OMIM ID:259900 | SNOMEDCT ID:65520001 | Primary hyperoxaluria, type I (disorder)" +BMGC_DS04797,BMG_DS009933,MONDO:0009824 | UMLS ID:C0268165 | DOID:0111671 | primary hyperoxaluria type 2 | MeSH ID:C536415 | Primary hyperoxaluria type 2 | OMIM ID:260000 +BMGC_DS04798,BMG_DS009944,"OMIM ID:223000 | UMLS ID:C0268179 | MONDO:0009115 | congenital lactase deficiency | DOID:0111646 | Lactase Deficiency, Congenital | MeSH ID:C562600" +BMGC_DS04799,BMG_DS009946,"Lactose Intolerance, Adult Type | OMIM ID:223100 | UMLS ID:C0268181 | MeSH ID:C562601 | MONDO:0006065 | lactose intolerance adult type" +BMGC_DS04800,BMG_DS009950,OMIM ID:606824 | Congenital glucose-galactose intolerance | Congenital glucose-galactose malabsorption | UMLS ID:C0268186 | glucose-galactose malabsorption | MONDO:0011731 | Congenital glucose-galactose malabsorption (disorder) | DOID:0070563 | SNOMEDCT ID:27943000 +BMGC_DS04801,BMG_DS009951,"Trehalase deficiency (disorder) | SNOMEDCT ID:84193000 | diarrhea-vomiting due to trehalase deficiency | Trehalase deficiency | OMIM ID:612119 | UMLS ID:C0268187 | alpha, alpha-Trehalase deficiency | MONDO:0012803 | Trehalose intolerance | Alpha, alpha-trehalase deficiency" +BMGC_DS04802,BMG_DS009957,methemoglobinemia due to deficiency of methemoglobin reductase | OMIM ID:250800 | UMLS ID:C0268193 | MeSH ID:C537841 | MONDO:0009606 | NADH cytochrome B5 reductase deficiency +BMGC_DS04803,BMG_DS009958,PEPCK - Phosphoenolpyruvate carboxykinase deficiency | Phosphoenolpyruvate carboxykinase deficiency | phosphoenolpyruvate carboxykinase deficiency | UMLS ID:C0268194 | MONDO:0017320 | Phosphoenolpyruvate carboxykinase deficiency (disorder) | SNOMEDCT ID:5335002 | MeSH ID:C536654 | Phosphoenolpyruvate carboxykinase (GTP) deficiency +BMGC_DS04804,BMG_DS009962,Familial apolipoprotein C-II deficiency | familial apolipoprotein C-II deficiency | UMLS ID:C0268199 | Familial apoC-II deficiency | Anapolipoproteinemia | SNOMEDCT ID:33513003 | Anapolipoproteinaemia | DOID:0111418 | Familial apolipoprotein C-II deficiency (disorder) +BMGC_DS04805,BMG_DS009972,UMLS ID:C0268221 | MeSH ID:D005645 | Fucosidosis | Fucosidosis Type I +BMGC_DS04806,BMG_DS009973,UMLS ID:C0268222 | MeSH ID:D005645 | Fucosidosis | Fucosidosis Type II +BMGC_DS04807,BMG_DS009974,ICD10 ID:E77.1 | Aspartylglucosaminuria | SNOMEDCT ID:54954004 | Aspartylglucosaminuria (disorder) | Aspartylglycosylaminase deficiency | OMIM ID:208400 | aspartylglucosaminuria | Disorders of sialic acid metabolism | DOID:0050461 | Aspartylglucosaminidase deficiency | MeSH ID:D054880 | UMLS ID:C0268225 | Aspartylglycosaminuria | MONDO:0008830 | ICD11 ID:5C56.4 | OMIM ID:MTHU014368 +BMGC_DS04808,BMG_DS009975,Mucolipidoses | Type I Mucolipidosis | UMLS ID:C0268226 | MeSH ID:D009081 | MONDO:0017734 | sialidosis +BMGC_DS04809,BMG_DS009976,UMLS ID:C0268228 | MeSH ID:C537366 | Neuraminidase 1 deficiency +BMGC_DS04810,BMG_DS009981,UMLS ID:C0268233 | galactosialidosis | GALACTOSIALIDOSIS | DOID:0080540 | OMIM ID:256540 | OMIM ID:613111 | MONDO:0009737 +BMGC_DS04811,BMG_DS009982,UMLS ID:C0268237 | cytochrome-c oxidase deficiency disease | MONDO:0009068 | DOID:3762 | Cytochrome-c Oxidase Deficiency | MeSH ID:D030401 +BMGC_DS04812,BMG_DS009983,MONDO:0010155 | Ichthyotic neutral lipid storage disease | Chanarin-Dorfman disease | Neutral lipid storage disease | UMLS ID:C0268238 | Chanarin-Miranda syndrome | Ichthyosiform erythroderma with leukocyte vacuolation | Lipid storage myopathy AND congenital ichthyosis | Ichthyosiform erythroderma with leucocyte vacuolation | Triglyceride storage disease with ichthyosis (disorder) | Dorfman-Chanarin disease | OMIM ID:275630 | SNOMEDCT ID:19604005 | Triglyceride storage disease with ichthyosis +BMGC_DS04813,BMG_DS009986,"Niemann-Pick Disease, Type A | Niemann-Pick disease type A | MeSH ID:D052536 | MONDO:0009756 | OMIM ID:257200 | UMLS ID:C0268242" +BMGC_DS04814,BMG_DS009987,"OMIM ID:607616 | MeSH ID:D052537 | Niemann-Pick disease type B | UMLS ID:C0268243 | Niemann-Pick Disease, Type B | MONDO:0011871" +BMGC_DS04815,BMG_DS009991,"MeSH ID:D052556 | Niemann-Pick Disease, Type D | UMLS ID:C0268247 | Niemann-Pick Disease, Type C" +BMGC_DS04816,BMG_DS009992,"MONDO:0020384 | MeSH ID:D052537 | Niemann-Pick disease type E | Niemann-Pick Disease, Type E | UMLS ID:C0268248 | Niemann-Pick Disease, Type B" +BMGC_DS04817,BMG_DS009993,"OMIM ID:230900 | MONDO:0009266 | UMLS ID:C0268250 | Gaucher Disease, Type 2 | Gaucher Disease | Gaucher disease type II | MeSH ID:D005776" +BMGC_DS04818,BMG_DS009994,"MONDO:0009267 | UMLS ID:C0268251 | Gaucher Disease, Type 3 | OMIM ID:231000 | Gaucher disease type III | MeSH ID:D005776 | Gaucher Disease" +BMGC_DS04819,BMG_DS009995,"MeSH ID:D007965 | MONDO:0016091 | adult Krabbe disease | Leukodystrophy, Globoid Cell | UMLS ID:C0268252 | Late-Onset Globoid Cell Leukodystrophy" +BMGC_DS04820,BMG_DS009996,MeSH ID:D055577 | Farber lipogranulomatosis | DOID:0050464 | UMLS ID:C0268255 | Farber Lipogranulomatosis | MONDO:0009218 | OMIM ID:228000 +BMGC_DS04821,BMG_DS009999,MONDO:0009590 | Metachromatic Leukodystrophy due to Saposin B Deficiency | MeSH ID:C562609 | metachromatic leukodystrophy due to saposin B deficiency | OMIM ID:249900 | UMLS ID:C0268262 +BMGC_DS04822,BMG_DS010000,mucosulfatidosis | Multiple Sulfatase Deficiency Disease | DOID:0050441 | UMLS ID:C0268263 | OMIM ID:272200 | MONDO:0010088 | MeSH ID:D052517 +BMGC_DS04823,BMG_DS010001,"Gangliosidosis, Generalized GM1, Type 1 | UMLS ID:C0268271 | Gangliosidosis, GM1 | MeSH ID:D016537 | GM1 gangliosidosis type 1 | OMIM ID:230500 | MONDO:0009260" +BMGC_DS04824,BMG_DS010002,"MONDO:0009261 | Gangliosidosis, GM1 | MeSH ID:D016537 | UMLS ID:C0268272 | GM1 gangliosidosis type 2 | OMIM ID:230600 | Gangliosidosis, Generalized GM1, Type 2" +BMGC_DS04825,BMG_DS010003,"UMLS ID:C0268273 | Gangliosidosis, GM1 | GM1 gangliosidosis type 3 | Gangliosidosis, Generalized GM1, Type 3 | MeSH ID:D016537 | OMIM ID:230650 | MONDO:0009262" +BMGC_DS04826,BMG_DS010004,"MeSH ID:D020143 | DOID:3321 | Gangliosidoses, GM2 | GM2 gangliosidosis | MONDO:0017720 | UMLS ID:C0268274" +BMGC_DS04827,BMG_DS010005,"MeSH ID:D049290 | Tay-Sachs Disease, AB Variant | Tay-Sachs disease AB variant | MONDO:0010099 | UMLS ID:C0268275 | GM2 gangliosidosis, AB variant | DOID:4795 | OMIM ID:272750" +BMGC_DS04828,BMG_DS010006,"Juvenile GM2 gangliosidosis | ICD10 ID:E75.09 | Juvenile GM2 gangliosidosis (disorder) | UMLS ID:C0268276 | SNOMEDCT ID:9537004 | GM>2< gangliosidosis, type 3" +BMGC_DS04829,BMG_DS010013,"OMIM ID:202110 | UMLS ID:C0268285 | MONDO:0008730 | MeSH ID:C538237 | Adrenal hyperplasia, congenital, type 5 | congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" +BMGC_DS04830,BMG_DS010018,MONDO:0008729 | MeSH ID:C535978 | UMLS ID:C0268292 | OMIM ID:202010 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency +BMGC_DS04831,BMG_DS010019,corticosterone methyloxidase type 1 deficiency | UMLS ID:C0268293 | OMIM ID:203400 | MONDO:0008751 +BMGC_DS04832,BMG_DS010020,"MeSH ID:C537805 | 17-Hydroxysteroid Dehydrogenase Deficiency | UMLS ID:C0268296 | MONDO:0009916 | OMIM ID:264300 | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" +BMGC_DS04833,BMG_DS010021,"Pseudovaginal Perineoscrotal Hypospadias | MONDO:0009923 | MeSH ID:C535830 | 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency | OMIM ID:264600 | UMLS ID:C0268297" +BMGC_DS04834,BMG_DS010022,UMLS ID:C0268301 | MONDO:0010720 | OMIM ID:312300 | OMIM ID:312100 | partial androgen insensitivity syndrome | Reifenstein Syndrome | Androgen-Insensitivity Syndrome | OMIM ID:307300 | MeSH ID:D013734 +BMGC_DS04835,BMG_DS010030,SNOMEDCT ID:74162007 | Progressive intrahepatic cholestasis (disorder) | DOID:0070221 | Progressive familial intrahepatic cholestasis | PFIC - progressive familial intrahepatic cholestasis | Progressive intrahepatic cholestasis | Fatal intrahepatic cholestasis | UMLS ID:C0268312 | Familial intrahepatic cholestasis | progressive familial intrahepatic cholestasis | MONDO:0015762 +BMGC_DS04836,BMG_DS010032,"Cholestasis-lymphedema syndrome | Cholestatic jaundice with hereditary lymphedema | Cholestasis-lymphoedema syndrome | Aagenaes syndrome | Cholestasis-edema syndrome, Norwegian type (disorder) | OMIM ID:214900 | Cholestasis-edema syndrome, Norwegian type | Cholestatic jaundice with hereditary lymphoedema | UMLS ID:C0268314 | Cholestasis-oedema syndrome, Norwegian type | Norwegian cholestasis | MONDO:0008966 | SNOMEDCT ID:28724005 | DOID:6691" +BMGC_DS04837,BMG_DS010035,Intrahepatic cholestasis of pregnancy | Recurrent intrahepatic cholestasis of pregnancy | Intrahepatic cholestasis of pregnancy (disorder) | SNOMEDCT ID:235888006 | RICP - recurrent intrahepatic cholestasis of pregnancy | SNOMEDCT ID:950004 | MONDO:0100429 | Cholestasis of pregnancy (disorder) | Cholestasis of pregnancy | intrahepatic cholestasis of pregnancy | UMLS ID:C0268318 | Recurrent jaundice of pregnancy +BMGC_DS04838,BMG_DS010039,OMIM ID:176100 | Familial porphyria cutanea tarda | familial porphyria cutanea tarda | PCT (porphyria cutanea tarda) type II | Familial porphyria cutanea tarda (disorder) | SNOMEDCT ID:59229005 | UMLS ID:C0268323 | MONDO:0008296 | Hereditary porphyria cutanea tarda +BMGC_DS04839,BMG_DS010043,Hereditary delta-aminolevulinic aciduria | Acute hepatic porphyria | Delta-aminolaevulinate dehydrase deficiency | UMLS ID:C0268328 | Delta-aminolevulinate dehydrase deficiency | Porphyria of Doss | ALA dehydratase deficiency porphyria | ALADH deficiency | Porphyria due to delta-aminolevulinate dehydratase deficiency | SNOMEDCT ID:64081000 | MONDO:0013000 | Porphobilinogen synthase deficiency (disorder) | Porphobilinogen synthase deficiency | porphyria due to ALA dehydratase deficiency | ALAD deficiency | OMIM ID:612740 +BMGC_DS04840,BMG_DS010046,"UMLS ID:C0268335 | MeSH ID:C536194 | Ehlers-Danlos syndrome, classic type, 1 | Ehlers-Danlos syndrome classic type 1 | OMIM ID:130000 | Ehlers-Danlos syndrome type 1 | DOID:14720 | MONDO:0019567" +BMGC_DS04841,BMG_DS010047,"MeSH ID:C536195 | Ehlers-Danlos syndrome type 2 | Ehlers-Danlos syndrome, classic type, 2 | UMLS ID:C0268336 | MONDO:0019568 | OMIM ID:130010" +BMGC_DS04842,BMG_DS010048,"UMLS ID:C0268337 | Hypermobile Ehlers-Danlos syndrome | DOID:14757 | MONDO:0007523 | Ehlers-Danlos syndrome, hypermobility type | Ehlers-Danlos syndrome hypermobility type | Ehlers-Danlos syndrome, benign hypermobile form | SNOMEDCT ID:30652003 | Ehlers-Danlos syndrome, type 3 | Ehlers-Danlos syndrome, type 3 (disorder) | Hypermobile Ehlers-Danlos syndrome (disorder) | OMIM ID:130020 | Benign hypermobility syndrome" +BMGC_DS04843,BMG_DS010049,"UMLS ID:C0268338 | MONDO:0017314 | MeSH ID:D000094623 | Ehlers-Danlos Syndrome, Type IV | Ehlers-Danlos syndrome, vascular type" +BMGC_DS04844,BMG_DS010050,"MONDO:0007524 | UMLS ID:C0268339 | autosomal dominant Ehlers-Danlos syndrome, vascular type | OMIM ID:130050" +BMGC_DS04845,BMG_DS010051,"DOID:14759 | UMLS ID:C0268340 | MONDO:0002014 | autosomal recessive Ehlers-Danlos syndrome, vascular type | autosomal recessive type IV Ehlers-Danlos syndrome" +BMGC_DS04846,BMG_DS010052,Ehlers-Danlos syndrome type 5 | X-linked cardiac valvular dysplasia | OMIM ID:305200 | MONDO:0010586 | MeSH ID:C536197 | DOID:0111765 | UMLS ID:C0268341 | X-linked Ehlers-Danlos syndrome +BMGC_DS04847,BMG_DS010053,"MeSH ID:C536198 | brittle cornea syndrome 1 | UMLS ID:C0268342 | brittle cornea syndrome | Ehlers-Danlos syndrome type 6 | OMIM ID:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | MONDO:0009242;MONDO:0016002 | DOID:14775" +BMGC_DS04848,BMG_DS010055,brittle cornea syndrome 1 | MeSH ID:C536192 | UMLS ID:C0268344 | Ehlers-Danlos syndrome 6B | MONDO:0024543 | OMIM ID:229200 +BMGC_DS04849,BMG_DS010057,"UMLS ID:C0268347 | Ehlers-Danlos syndrome, periodontitis type | Ehlers-Danlos Syndrome, Type VIII | MONDO:0007527 | MeSH ID:C562626" +BMGC_DS04850,BMG_DS010060,"autosomal dominant cutis laxa | MONDO:0019571 | MeSH ID:C562627 | UMLS ID:C0268350 | Cutis Laxa, Autosomal Dominant" +BMGC_DS04851,BMG_DS010061,autosomal recessive cutis laxa type 1 | UMLS ID:C0268351 | MONDO:0019572 | autosomal recessive cutis laxa type I | DOID:0070144 +BMGC_DS04852,BMG_DS010063,MONDO:0010572 | UMLS ID:C0268353 | DOID:0111272 | OMIM ID:304150 | occipital horn syndrome +BMGC_DS04853,BMG_DS010064,MONDO:0017569 | MeSH ID:C535990 | De Barsy syndrome | UMLS ID:C0268354 | de Barsy syndrome | DOID:0070143 | autosomal recessive cutis laxa type III +BMGC_DS04854,BMG_DS010065,"autosomal recessive cutis laxa type 2A | OMIM ID:219200 | MeSH ID:C562632 | Cutis Laxa, Autosomal Recessive, Type IIA | UMLS ID:C0268355 | MONDO:0018163" +BMGC_DS04855,BMG_DS010068,"osteogenesis imperfecta type 2 | OMIM ID:166210 | Osteogenesis imperfecta, dominant perinatal lethal | UMLS ID:C0268358 | Osteogenesis imperfecta type II, dominant form | SNOMEDCT ID:7134007 | Neonatal lethal osteogenesis imperfecta congenita | MONDO:0008147 | Osteogenesis imperfecta, dominant perinatal lethal (disorder)" +BMGC_DS04856,BMG_DS010071,Osteogenesis imperfecta type III (disorder) | SNOMEDCT ID:385483009 | OMIM ID:259420 | UMLS ID:C0268362 | Osteogenesis imperfecta type III | osteogenesis imperfecta type 3 | MONDO:0009804 +BMGC_DS04857,BMG_DS010072,"UMLS ID:C0268363 | OMIM ID:166220 | osteogenesis imperfecta type 4 | MONDO:0008148 | Osteogenesis imperfecta type IV | Osteogenesis imperfecta with normal sclerae, dominant form | Osteogenesis imperfecta, type IV | Osteogenesis imperfecta type IV (disorder) | SNOMEDCT ID:205497004" +BMGC_DS04858,BMG_DS010075,UMLS ID:C0268368 | MONDO:0009178 | epidermolysis bullosa dystrophica Neurotrophica | OMIM ID:226500 +BMGC_DS04859,BMG_DS010076,MONDO:0007557 | epidermolysis bullosa with congenital localized absence of skin and deformity of nails | UMLS ID:C0268371 | OMIM ID:132000 +BMGC_DS04860,BMG_DS010078,"SNOMEDCT ID:33662006 | UMLS ID:C0268374 | OMIM ID:226650 | Adult junctional epidermolysis bullosa (disorder) | junctional epidermolysis bullosa, non-Herlitz type | MONDO:0009180 | Adult junctional epidermolysis bullosa | Epidermolysis bullosa junctionalis, Disentis type" +BMGC_DS04861,BMG_DS010081,Pseudocholinesterase deficiency (disorder) | MeSH ID:C537417 | SNOMEDCT ID:191397007 | UMLS ID:C0268379 | SNOMEDCT ID:62793002 | Pseudocholinesterase deficiency | Cholinesterase deficiency | Serum cholinesterase defect (disorder) | Serum cholinesterase deficiency | Serum cholinesterase defect | Butyrylcholinesterase deficiency | Suxamethonium paralysis | Plasma cholinesterase deficiency +BMGC_DS04862,BMG_DS010083,AL amyloidosis | SNOMEDCT ID:23132008 | SNOMEDCT ID:302871005 | Amyloid light-chain amyloidosis | Primary amyloidosis of light chain type | Primary amyloidosis | Amyloid light-chain amyloidosis (disorder) | Primary amyloidosis (disorder) | UMLS ID:C0268381 | MONDO:0019438 +BMGC_DS04863,BMG_DS010086,"Amyloid Neuropathies, Familial | Familial Amyloid Neuropathy, Portuguese Type | MeSH ID:D028227 | UMLS ID:C0268384 | MONDO:0100552 | ATTRV30M amyloidosis" +BMGC_DS04864,BMG_DS010087,"Amyloid Neuropathies, Familial | MeSH ID:D028227 | UMLS ID:C0268385 | Familial Amyloid Polyneuropathy, Jewish Type" +BMGC_DS04865,BMG_DS010088,"Amyloid Neuropathies, Familial | UMLS ID:C0268386 | MeSH ID:D028227 | Amyloid Polyneuropathy, Swiss Type" +BMGC_DS04866,BMG_DS010089,"OMIM ID:105200 | Amyloidosis, familial visceral | UMLS ID:C0268389 | MeSH ID:C538249 | familial visceral amyloidosis | MONDO:0007099" +BMGC_DS04867,BMG_DS010090,UMLS ID:C0268390 | MONDO:0008633 | Cryopyrin-Associated Periodic Syndromes | Muckle-Wells Syndrome | OMIM ID:191900 | Muckle-Wells syndrome | DOID:0050854 | MeSH ID:D056587 +BMGC_DS04868,BMG_DS010092,"MeSH ID:D028243 | DOID:9246 | Familial Cerebral Amyloid Angiopathy | ITM2B amyloidosis | Cerebral Amyloid Angiopathy, Familial | MONDO:0018591 | cerebral amyloid angiopathy | UMLS ID:C0268393" +BMGC_DS04869,BMG_DS010094,SNOMEDCT ID:61985005 | Primary localized cutaneous amyloidosis (disorder) | Amyloidosis of dermis | primary cutaneous amyloidosis | Amyloidosis cutis | Primary localized cutaneous amyloidosis | Cutaneous amyloidosis | Primary cutaneous amyloidosis | SNOMEDCT ID:282834007 | MONDO:0015301 | Primary localised cutaneous amyloidosis | SNOMEDCT ID:733729003 | Cutaneous amyloidosis (disorder) | UMLS ID:C0268397 +BMGC_DS04870,BMG_DS010096,"OMIM ID:204900 | amyloidosis, cutaneous bullous | UMLS ID:C0268399 | MeSH ID:C562644 | MONDO:0008778 | Amyloidosis, Cutaneous Bullous" +BMGC_DS04871,BMG_DS010102,AA amyloidosis | beta-2-Microglobulin amyloidosis | Haemodialysis-associated amyloidosis | Hemodialysis-associated amyloidosis (disorder) | ICD10 ID:E85.3 | DOID:0080936 | UMLS ID:C0268405 | MONDO:0019440 | ICD11 ID:5D00.1 | Hemodialysis-associated amyloidosis | Dialysis-associated amyloidosis | SNOMEDCT ID:32599008 | Beta-2 microglobulin amyloidosis | serum amyloid A amyloidosis | wild type ABeta2M amyloidosis +BMGC_DS04872,BMG_DS010104,SNOMEDCT ID:16573007 | Cardiac amyloidosis | Amyloid heart muscle disease | Wild-type transthyretin cardiac amyloidosis | AS transthyretin amyloidosis | UMLS ID:C0268407 | Senile cardiac amyloidosis | Senile cardiac amyloidosis (disorder) | Stiff heart syndrome +BMGC_DS04873,BMG_DS010107,OMIM ID:200950 | Acid Phosphatase Deficiency | MeSH ID:C562645 | UMLS ID:C0268410 | lysosomal acid phosphatase deficiency | MONDO:0008705 +BMGC_DS04874,BMG_DS010108,"Rathbun syndrome | Foetal hypophosphatasia | Congenital hypophosphatasia | Infantile hypophosphatasia | Fetal hypophosphatasia | Infantile hypophosphatasia (disorder) | Phosphoethanolaminuria | SNOMEDCT ID:55236002 | Hypophosphatasia, infantile type | UMLS ID:C0268412" +BMGC_DS04875,BMG_DS010109,"SNOMEDCT ID:20756002 | UMLS ID:C0268413 | Hypophosphatasia, adult type | Adult hypophosphatasia (disorder) | Adult hypophosphatasia" +BMGC_DS04876,BMG_DS010110,UMLS ID:C0268414 | Juvenile Paget disease | MONDO:0009394 | Osteochalasia desmalis familiaris | Familial idiopathic hyperphosphatasaemia | OMIM ID:239000 | SNOMEDCT ID:9723006 | Hyperostosis corticalis deformans juvenilis | Hyperphosphatasemia with bone disease (disorder) | Hyperphosphatasaemia with bone disease | Chronic congenital idiopathic hyperphosphatasemia | Osteoectasia with hyperphosphatasia | Chronic congenital idiopathic hyperphosphatasaemia | juvenile Paget disease | Familial idiopathic hyperphosphatasemia | Familial osteoectasia | Hyperphosphatasemia with bone disease +BMGC_DS04877,BMG_DS010111,congenital enteropathy due to enteropeptidase deficiency | UMLS ID:C0268416 | Enterokinase Deficiency | enterokinase deficiency | OMIM ID:226200 | DOID:0111667 | MONDO:0009173 | MeSH ID:C562649 +BMGC_DS04878,BMG_DS010112,Pancreatic trypsinogen deficiency (disorder) | trypsinogen deficiency | SNOMEDCT ID:65660008 | OMIM ID:614044 | UMLS ID:C0268417 | Congenital trypsinogen deficiency | MONDO:0013543 | Pancreatic trypsinogen deficiency +BMGC_DS04879,BMG_DS010113,MONDO:0010613 | inborn glycerol kinase deficiency | GKD - Glycerol kinase deficiency | OMIM ID:307030 | SNOMEDCT ID:124322002 | Deficiency of glycerol kinase | Familial hyperglycerolemia | UMLS ID:C0268418 | Deficiency of glycerol kinase (disorder) | Hyperglycerolemia | Familial hyperglycerolaemia | GK1 deficiency | Hyperglycerolaemia | Glycerol kinase deficiency +BMGC_DS04880,BMG_DS010114,SNOMEDCT ID:267454002 | MONDO:0013571 | MeSH ID:D020642 | Acatalasia (disorder) | DOID:2582 | UMLS ID:C0268419 | OMIM ID:614097 | Acatalasaemia | SNOMEDCT ID:111393000 | SNOMEDCT ID:190954001 | Acatalasemia | acatalasia | Catalase deficiency | Takahara disease | Acatalasia | Acatalasemia (disorder) +BMGC_DS04881,BMG_DS010117,Ethanolaminosis | MONDO:0009199 | ethanolaminosis | Ethanolamine kinase deficiency | MeSH ID:C562651 | Ethanolaminuria | Ethanolaminosis (disorder) | UMLS ID:C0268423 | OMIM ID:227150 | SNOMEDCT ID:64235006 +BMGC_DS04882,BMG_DS010119,OMIM ID:203800 | UMLS ID:C0268425 | MONDO:0008763 | Alstrom Syndrome | DOID:0050473 | MeSH ID:D056769 | Alstrom syndrome +BMGC_DS04883,BMG_DS010127,"UMLS ID:C0268435 | MONDO:0008369 | Renal Tubular Acidosis, Type II | Acidosis, Renal Tubular | OMIM ID:179830 | proximal renal tubular acidosis | MeSH ID:D000141" +BMGC_DS04884,BMG_DS010128,"Pseudohypoaldosteronism | UMLS ID:C0268436 | MeSH ID:D011546 | pseudohypoaldosteronism type 1 | Pseudohypoaldosteronism, Type I | DOID:0060854 | autosomal recessive pseudohypoaldosteronism type 1 | MONDO:0019161" +BMGC_DS04885,BMG_DS010132,"MeSH ID:D018500 | Acquired Nephrogenic Diabetes Insipidus | Diabetes Insipidus, Nephrogenic | UMLS ID:C0268443" +BMGC_DS04886,BMG_DS010133,"hypokalemic alkalosis, familial, with specific renal tubulopathy | MONDO:0009423 | Hypokalemia, Familial | MeSH ID:C562654 | OMIM ID:241150 | UMLS ID:C0268444" +BMGC_DS04887,BMG_DS010135,Hashitoxic periodic paralysis | Thyrotoxic periodic paralysis | UMLS ID:C0268446 | Thyrotoxic periodic paralysis (disorder) | thyrotoxic periodic paralysis | SNOMEDCT ID:30967002 | MONDO:0019201 +BMGC_DS04888,BMG_DS010137,Primary hypomagnesaemia | MONDO:0009550 | SNOMEDCT ID:80710001 | Primary hypomagnesemia | Primary hypomagnesemia (disorder) | renal hypomagnesemia 3 | UMLS ID:C0268448 | OMIM ID:248250 +BMGC_DS04889,BMG_DS010139,Gitelman Syndrome | UMLS ID:C0268450 | OMIM ID:263800 | MONDO:0009904 | Gitelman syndrome | DOID:0050450 | MeSH ID:D053579 +BMGC_DS04890,BMG_DS010148,"OMIM ID:261630 | DHPR deficiency | dihydropteridine reductase deficiency | DHPR - Dihydropteridine reductase deficiency | Dihydropteridine reductase deficiency | MeSH ID:D010661 | Hyperphenylalaninemia, type IV | Dihydropteridine reductase deficiency (disorder) | Phenylketonurias | Atypical PKU | Phenylketonuria II | Atypical phenylketonuria | MONDO:0009862 | UMLS ID:C0268465 | Hyperphenylalaninaemia, type IV | SNOMEDCT ID:58256000" +BMGC_DS04891,BMG_DS010149,"MONDO:0100184 | Hyperphenylalaninemia, BH4-Deficient, B | MeSH ID:C562656 | GTP cyclohydrolase I deficiency | UMLS ID:C0268467" +BMGC_DS04892,BMG_DS010150,"UMLS ID:C0268468 | MONDO:0012994 | dopa-responsive dystonia due to sepiapterin reductase deficiency | sepiapterin reductase deficiency | DOID:0111168 | OMIM ID:612716 | MeSH ID:C562657 | Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency" +BMGC_DS04893,BMG_DS010153,MeSH ID:C562658 | MONDO:0010157 | Tryptophanuria With Dwarfism | UMLS ID:C0268473 | OMIM ID:276100 | Tryptophanuria with dwarfism +BMGC_DS04894,BMG_DS010154,DOID:0112257 | encephalopathy due to hydroxykynureninuria | hydroxykynureninuria | SNOMEDCT ID:33116002 | MeSH ID:C536081 | SNOMEDCT ID:190690005 | OMIM ID:MTHU074673 | Hydroxykynureninuria | MONDO:0009372 | OMIM ID:236800 | Hydroxykynureninuria (disorder) | UMLS ID:C0268474 +BMGC_DS04895,BMG_DS010156,Tryptophan malabsorption syndrome | Tryptophan malabsorption syndrome (disorder) | blue diaper syndrome | SNOMEDCT ID:59531002 | UMLS ID:C0268478 | OMIM ID:211000 | MONDO:0008877 | Blue diaper syndrome | MeSH ID:C536239 +BMGC_DS04896,BMG_DS010157,MeSH ID:C535329 | OMIM ID:236300 | UMLS ID:C0268479 | Hooft disease | MONDO:0009355 +BMGC_DS04897,BMG_DS010159,DOID:9275 | UMLS ID:C0268483 | tyrosinemia | MONDO:0004741 +BMGC_DS04898,BMG_DS010160,UMLS ID:C0268484 | Tyrosinosis | Tyrosinosis (disorder) | OMIM ID:276800 | SNOMEDCT ID:190692002 | MONDO:0010163 | MeSH ID:C562659 | SNOMEDCT ID:57414003 | Excessive accumulation of tyrosine in tissue +BMGC_DS04899,BMG_DS010163,Tyrosine Transaminase Deficiency Disease | MONDO:0010160 | tyrosinemia type II | OMIM ID:276600 | UMLS ID:C0268487 | MeSH ID:D020176 | Tyrosinemias +BMGC_DS04900,BMG_DS010165,"Tyrosinemia, Type I | OMIM ID:276700 | tyrosinemia type I | MONDO:0010161 | MeSH ID:D020176 | Tyrosinemias | UMLS ID:C0268490" +BMGC_DS04901,BMG_DS010168,oculocutaneous albinism type 1 | Oculocutaneous albinism type 1 | SNOMEDCT ID:765146000 | TYR-gene related oculocutaneous albinism type 1 | UMLS ID:C0268494 | Oculocutaneous albinism type 1 (disorder) | MONDO:0018135 | MeSH ID:C537728 +BMGC_DS04902,BMG_DS010169,MeSH ID:C537730 | OCA2 - Tyrosinase-positive oculocutaneous albinism | oculocutaneous albinism type II | oculocutaneous albinism type 2 | MONDO:0008746 | DOID:0070096 | OMIM ID:203200 | SNOMEDCT ID:26336006 | UMLS ID:C0268495 | Tyrosinase-positive oculocutaneous albinism | Oculocutaneous albinism type 2 | Albinoidism | Tyrosinase-positive oculocutaneous albinism (disorder) +BMGC_DS04903,BMG_DS010174,"Ocular albinism, type II | UMLS ID:C0268505 | SNOMEDCT ID:266455006 | OMIM ID:300600 | MONDO:0010371 | Aland island eye disease | Forsius-Eriksson syndrome | Ocular albinism, type II (disorder) | SNOMEDCT ID:44967007 | Forsius-Eriksson type ocular albinism" +BMGC_DS04904,BMG_DS010179,DOID:9265 | Disorder of histidine metabolism | histidine metabolism disease | inborn disorder of histidine metabolism | SNOMEDCT ID:44176004 | UMLS ID:C0268512 | MONDO:0019228 | Disorder of histidine metabolism (disorder) +BMGC_DS04905,BMG_DS010181,MONDO:0010167 | Urocanate hydratase deficiency (disorder) | DOID:0112180 | UMLS ID:C0268514 | SNOMEDCT ID:60952007 | MeSH ID:C536479 | urocanase deficiency | Urocanate hydratase deficiency | OMIM ID:276880 | urocanic aciduria | Urocanase deficiency | OMIM ID:MTHU037990 | Urocanic aciduria +BMGC_DS04906,BMG_DS010188,UMLS ID:C0268523 | SNOMEDCT ID:36799008 | Glutamate-cysteine ligase deficiency (disorder) | Deficiency of glutamate-cysteine ligase | Gamma-glutamyl cysteine synthase deficiency | Gamma-glutamylcysteine synthetase deficiency | Glutamate-cysteine ligase deficiency +BMGC_DS04907,BMG_DS010189,SNOMEDCT ID:78586005 | Gamma-glutamyl transpeptidase deficiency | gamma-glutamyl transpeptidase deficiency | gamma-Glutamyltransferase deficiency | UMLS ID:C0268524 | Gamma-glutamyl transpeptidase deficiency (disorder) | MONDO:0009285 | OMIM ID:231950 | DOID:0111257 | Gamma-glutamyl transferase deficiency | Glutathionuria +BMGC_DS04908,BMG_DS010190,MeSH ID:C535322 | OMIM ID:260005 | UMLS ID:C0268525 | MONDO:0009825 | 5-oxoprolinase deficiency +BMGC_DS04909,BMG_DS010192,UMLS ID:C0268528 | SNOMEDCT ID:59655002 | hyperprolinemia | MONDO:0023419 | Hyperprolinemia | Hyperprolinemia (disorder) | SNOMEDCT ID:190735009 | Hyperprolinaemia +BMGC_DS04910,BMG_DS010193,"Hyperprolinaemia, type I | OMIM ID:239500 | MONDO:0009400 | Hyperprolinemia type I | hyperprolinemia type 1 | Hyperprolinemia, type I | Proline oxidase deficiency | UMLS ID:C0268529 | Proline dehydrogenase deficiency (disorder) | Hyperprolinaemia type I | SNOMEDCT ID:61071003 | Proline dehydrogenase deficiency" +BMGC_DS04911,BMG_DS010194,Hydroxyprolinaemia | SNOMEDCT ID:25739007 | Hyperhydroxyprolinaemia | UMLS ID:C0268531 | Hyperhydroxyprolinemia | MONDO:0009374 | Hydroxyprolinemia | OMIM ID:237000 | hydroxyprolinemia | Hyperhydroxyprolinemia (disorder) | MeSH ID:C562669 +BMGC_DS04912,BMG_DS010195,Deficiency of prolidase | Deficiency of imidodipeptidase | Deficiency of proline dipeptidase (disorder) | Deficiency of Xaa-Pro dipeptidase | SNOMEDCT ID:360994007 | UMLS ID:C0268532 | OMIM ID:170100 | Deficiency of Xaa-Pro dipeptidase (disorder) | SNOMEDCT ID:124488001 | MONDO:0008221 | prolidase deficiency | DOID:0111540 | Deficiency of proline dipeptidase +BMGC_DS04913,BMG_DS010199,SNOMEDCT ID:9111008 | MeSH ID:C562670 | OMIM ID:138070 | Glucoglycinuria | UMLS ID:C0268536 | Glucoglycinuria (finding) | MONDO:0007673 +BMGC_DS04914,BMG_DS010200,OMIM ID:238970 | ornithine translocase deficiency | UMLS ID:C0268540 | MONDO:0009393 | HHH syndrome | MeSH ID:C538380 +BMGC_DS04915,BMG_DS010201,OCT (ornithine carbamoyltransferase) deficiency | Ornithine transcarbamoylase deficiency | Ornithine carbamoyltransferase deficiency | DOID:9271 | OTC (ornithine transcarbamylase) deficiency | Deficiency of citrulline phosphorylase | Ornithine transcarbamylase deficiency | Deficiency of ornithine transcarbamylase | UMLS ID:C0268542 | MONDO:0010703 | OMIM ID:311250 | Deficiency of ornithine carbamoyltransferase | Ornithine carbamoyltransferase deficiency (disorder) | ornithine carbamoyltransferase deficiency | SNOMEDCT ID:80908008 | OTC-gene related ornithine carbamoyltransferase deficiency +BMGC_DS04916,BMG_DS010202,"NAGS deficiency | N-acetylglutamate synthetase deficiency | NAGS-gene related hyperammonaemia type III | NAGS - N-Acetylglutamate synthase deficiency | Amino acid acetyltransferase deficiency | Hyperammonemia, type III | Hyperammonaemia, type III | Congenital AGA deficiency | OMIM ID:237310 | Hyperammonemia, type III (disorder) | hyperammonemia due to N-acetylglutamate synthase deficiency | MONDO:0009377 | NAGS-gene related hyperammonemia type III | UMLS ID:C0268543 | SNOMEDCT ID:57119000 | N-acetylglutamate transferase deficiency | N-Acetylglutamate synthase deficiency" +BMGC_DS04917,BMG_DS010205,Late-onset citrullinaemia type I | Late-onset citrullinaemia type 1 | SNOMEDCT ID:1264112006 | Late-onset citrullinemia type I (disorder) | Late-onset citrullinemia type I | UMLS ID:C0268546 | Late-onset citrullinemia type 1 +BMGC_DS04918,BMG_DS010206,UMLS ID:C0268547 | DOID:14755 | MeSH ID:D056807 | MONDO:0008815 | Argininosuccinic Aciduria | OMIM ID:207900 | argininosuccinic aciduria +BMGC_DS04919,BMG_DS010207,Arginase deficiency | Deficiency of arginase | hyperargininemia | Arginase 1-gene related arginase deficiency | Argininemia | SNOMEDCT ID:23501004 | MONDO:0008814 | Hyperargininaemia | ARG1-gene related arginase deficiency | DOID:9278 | UMLS ID:C0268548 | ARGI deficiency | MeSH ID:D020162 | Arginase deficiency (disorder) | Argininaemia | Hyperargininemia | OMIM ID:207800 +BMGC_DS04920,BMG_DS010209,UMLS ID:C0268552 | SNOMEDCT ID:77402005 | Disorder of lysine AND/OR hydroxylysine metabolism (disorder) | inborn disorder of lysine and hydroxylysine metabolism | MONDO:0017351 | Disorder of lysine AND/OR hydroxylysine metabolism +BMGC_DS04921,BMG_DS010210,hyperlysinemia | Hyperlysinemias | MeSH ID:D020167 | OMIM ID:238700 | DOID:9274 | MONDO:0009388 | UMLS ID:C0268553 +BMGC_DS04922,BMG_DS010212,"OMIM ID:238750 | MONDO:0009390 | Hyperlysinemia, Periodic | UMLS ID:C0268555 | MeSH ID:D020167 | hyperlysinuria with hyperammonemia | Hyperlysinemias" +BMGC_DS04923,BMG_DS010213,SNOMEDCT ID:111397004 | SNOMEDCT ID:190726002 | saccharopinuria | Saccharopinuria (disorder) | Saccharopinuria | OMIM ID:268700 | MONDO:0010005 | UMLS ID:C0268556 +BMGC_DS04924,BMG_DS010217,"Hyperglycinemia, Nonketotic, Type I | UMLS ID:C0268561 | MeSH ID:D020158 | Hyperglycinemia, Nonketotic" +BMGC_DS04925,BMG_DS010218,"MeSH ID:D020158 | UMLS ID:C0268562 | Hyperglycinemia, Nonketotic | Hyperglycinemia, Nonketotic, Type II" +BMGC_DS04926,BMG_DS010219,MONDO:0010008 | Deficiency of the sarcosine dehydrogenase complex | OMIM ID:268900 | Sarcosinemia | SNOMEDCT ID:64852002 | ICD10 ID:E72.59 | Sarcosine dehydrogenase deficiency (disorder) | DOID:0112307 | UMLS ID:C0268563 | Sarcosinaemia | sarcosinemia | MeSH ID:C537236 | Sarcosinuria | Hypersarcosinaemia | Sarcosine dehydrogenase deficiency | Hypersarcosinemia | Demethylation defect of N-methylglycine +BMGC_DS04927,BMG_DS010223,MONDO:0017051 | classic maple syrup urine disease | MeSH ID:D008375 | Classic Maple Syrup Urine Disease | Maple Syrup Urine Disease | UMLS ID:C0268568 +BMGC_DS04928,BMG_DS010224,intermittent maple syrup urine disease | UMLS ID:C0268569 | MeSH ID:D008375 | Maple Syrup Urine Disease | Intermittent Maple Syrup Urine Disease | MONDO:0017053 +BMGC_DS04929,BMG_DS010227,Hypervalinaemia | OMIM ID:277100 | UMLS ID:C0268573 | Valinemia | Valine transaminase deficiency | SNOMEDCT ID:47719001 | Hypervalinemia | Hypervalinemia (disorder) | MeSH ID:C536524 | MONDO:0010174 | Valinaemia +BMGC_DS04930,BMG_DS010228,UMLS ID:C0268574 | MeSH ID:C562674 | Hyperleucine-Isoleucinemia | hyperleucine-Isoleucinemia | OMIM ID:238340 | MONDO:0009385 +BMGC_DS04931,BMG_DS010229,MONDO:0009475 | OMIM ID:243500 | Isovaleric acid-CoA dehydrogenase deficiency | Isovaleric acid CoA dehydrogenase deficiency | Isovaleryl-coenzyme A dehydrogenase deficiency | Isovaleryl-CoA dehydrogenase deficiency | Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | Isovaleric acidemia | IVD-gene related isovaleryl-coenzyme A dehydrogenase deficiency | DOID:14753 | Isovaleric acidaemia | SNOMEDCT ID:87827003 | isovaleric acidemia | UMLS ID:C0268575 +BMGC_DS04932,BMG_DS010232,Propionic aciduria | Propionic acidemia (disorder) | Ketotic hyperglycinaemia | Ketotic glycinemia | ICD10 ID:E71.121 | UMLS ID:C0268579 | OMIM ID:606054 | Ketotic hyperglycinemia | Ketotic glycinaemia | Propionic acidemia | propionic acidemia | MONDO:0011628 | DOID:14701 | Hyperglycinemia with ketosis and leukopenia | Propionic acidaemia | Propionyl-CoA carboxylase deficiency | Hyperglycinaemia with ketosis and leucopenia | PCC - Propionyl-CoA carboxylase deficiency | SNOMEDCT ID:69080001 +BMGC_DS04933,BMG_DS010233,holocarboxylase synthetase deficiency | UMLS ID:C0268581 | DOID:859 | Holocarboxylase Synthetase Deficiency | MONDO:0009666 | MeSH ID:D028922 | OMIM ID:253270 +BMGC_DS04934,BMG_DS010234,Methylmalonic acidaemia | UMLS ID:C0268583 | 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] (disorder) | MONDO:0002012 | MeSH ID:C537358 | DOID:14749 | OMIM ID:MTHU037722 | SNOMEDCT ID:42393006 | MMA - Methylmalonic aciduria | ICD10 ID:E71.120 | Methylmalonic acidemia (disorder) | Disorder of amino acid metabolism: [methylmalonic acidaemia] or [other specified straight-chain] | methylmalonic acidemia | SNOMEDCT ID:190727006 | Methylmalonic acidemia +BMGC_DS04935,BMG_DS010238,"Glutaric aciduria type I | Glutaric aciduria, type 1 (disorder) | Glutaric acidaemia, type 1 | Glutaric aciduria, type 1 | MONDO:0009281 | Glutaric acidemia, type 1 | GA I | SNOMEDCT ID:76175005 | glutaryl-CoA dehydrogenase deficiency | UMLS ID:C0268595 | OMIM ID:231670" +BMGC_DS04936,BMG_DS010239,OMIM ID:231680 | DOID:0060358 | MeSH ID:D054069 | MONDO:0009282 | UMLS ID:C0268596 | multiple acyl-CoA dehydrogenase deficiency | Multiple Acyl Coenzyme A Dehydrogenase Deficiency +BMGC_DS04937,BMG_DS010243,OMIM ID:210200 | MeSH ID:C535308 | MONDO:0008861 | DOID:0080579 | 3-methylcrotonyl CoA carboxylase 1 deficiency | UMLS ID:C0268600 | 3-methylcrotonyl-CoA carboxylase 1 deficiency +BMGC_DS04938,BMG_DS010244,3-hydroxy-3-methylglutaric aciduria | DOID:0070541 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | MONDO:0009520 | UMLS ID:C0268601 | OMIM ID:246450 +BMGC_DS04939,BMG_DS010245,Deficiency of acetyl-coenzyme A carboxylase | UMLS ID:C0268603 | OMIM ID:613933 | Acetyl-CoA carboxylase deficiency | Deficiency of acetyl-CoA carboxylase | Acetyl-CoA: carboxylase deficiency | SNOMEDCT ID:4920001 | acetyl-coa carboxylase deficiency | MONDO:0013493 | Deficiency of acetyl-coenzyme A carboxylase (disorder) +BMGC_DS04940,BMG_DS010248,Formiminoglutamic aciduria | UMLS ID:C0268609 | Glutamate formiminotransferase deficiency (disorder) | SNOMEDCT ID:59761008 | OMIM ID:229100 | Deficiency of glutamate formyltransferase | MeSH ID:C537425 | formiminoglutamic aciduria | FIGLUria | Deficiency of glutamate formiminotransferase | DOID:0111679 | MONDO:0009240 | glutamate formiminotransferase deficiency | Glutamate formiminotransferase deficiency +BMGC_DS04941,BMG_DS010251,Sulfuraminoacidemia | Disorder of sulphur-bearing amino acid including those due to folate and B12 disturbance | Disorder of transsulphuration | Sulphuraminoacidaemia | Disorder of sulphur-bearing amino acid metabolism | Disorder of transsulfuration | Disorder of sulfur-bearing amino acid metabolism | Disorder of sulfur-bearing amino acid including those due to folate and B12 disturbance | UMLS ID:C0268613 | Disorder of sulfur-bearing amino acid metabolism (disorder) | SNOMEDCT ID:28882002 +BMGC_DS04942,BMG_DS010253,MeSH ID:C535408 | Cystathionine gamma-lyase deficiency | Deficiency of cystathionase | DOID:0090142 | SNOMEDCT ID:6885006 | Cystathionine gamma-lyase deficiency (disorder) | Deficiency of homoserine deaminase | Deficiency of cystine desulphydrase | Deficiency of cystine desulfhydrase | Deficiency of cysteine desulfhydrase | cystathioninuria | Gamma-cystathionase deficiency | UMLS ID:C0268616 | Deficiency of cysteine desulphydrase +BMGC_DS04943,BMG_DS010254,SNOMEDCT ID:52311001 | Homocystinemia (disorder) | Homocystinemia | UMLS ID:C0268617 | Homocystinaemia +BMGC_DS04944,BMG_DS010257,methionine adenosyltransferase deficiency | Hepatic methionine adenosyltransferase deficiency | MONDO:0009607 | UMLS ID:C0268621 | MAT deficiency | Methionine adenosyltransferase deficiency | SNOMEDCT ID:267420003 | Hepatic methionine adenosyltransferase deficiency (disorder) | OMIM ID:250850 | SNOMEDCT ID:57835009 +BMGC_DS04945,BMG_DS010258,UMLS ID:C0268622 | Methionine Malabsorption Syndrome | methionine malabsorption syndrome | MONDO:0009608 | OMIM ID:250900 | MeSH ID:C562682 +BMGC_DS04946,BMG_DS010259,"tyrosinemia type III | OMIM ID:276710 | Tyrosinemia, Type III | UMLS ID:C0268623 | MONDO:0010162 | MeSH ID:D020176 | Tyrosinemias" +BMGC_DS04947,BMG_DS010260,SNOMEDCT ID:367368009 | ICD10 ID:E72.19 | DOID:0111270 | Sulphite oxidase deficiency | SNOMEDCT ID:237935000 | OMIM ID:272300 | MONDO:0010089 | MeSH ID:C538141 | isolated sulfite oxidase deficiency | Sulfite oxidase deficiency (disorder) | OMIM ID:MTHU058999 | Sulphite oxidase deficiency (disorder) | Sulfite oxidase deficiency | UMLS ID:C0268624 +BMGC_DS04948,BMG_DS010261,"juvenile nephropathic cystinosis | Intermediate cystinosis | Late-onset cystinosis | OMIM ID:219900 | UMLS ID:C0268626 | Adolescent cystinosis | Juvenile nephropathic cystinosis (disorder) | SNOMEDCT ID:22830006 | Juvenile cystinosis | Cystinosis, type II | Juvenile nephropathic cystinosis | MONDO:0009066" +BMGC_DS04949,BMG_DS010263,Hyper-beta-alaninemia | Hyper-beta-alaninaemia | OMIM ID:237400 | Hyperalaninemia | MONDO:0009378 | Hyper-beta-alaninemia (disorder) | UMLS ID:C0268630 | Hyperalaninaemia | hyper-beta-alaninemia | SNOMEDCT ID:2359002 +BMGC_DS04950,BMG_DS010264,UMLS ID:C0268631 | OMIM ID:271980 | MONDO:0010083 | DOID:0060175 | succinic semialdehyde dehydrogenase deficiency | MeSH ID:C535803 +BMGC_DS04951,BMG_DS010265,SNOMEDCT ID:237942000 | DOID:0060177 | MONDO:0009351 | MeSH ID:C535328 | OMIM ID:236130 | Homocarnosinosis (disorder) | Homocarnosinosis | SNOMEDCT ID:274616003 | Serum carnosinase deficiency | UMLS ID:C0268632 | homocarnosinosis +BMGC_DS04952,BMG_DS010266,SNOMEDCT ID:39929009 | Disorder of fat oxidation | Disorder of fatty acid metabolism (disorder) | UMLS ID:C0268634 | Disorders of fatty-acid metabolism | Disorder of fatty acid metabolism | SNOMEDCT ID:190729009 | MONDO:0037858 | inherited fatty acid metabolism disorder +BMGC_DS04953,BMG_DS010272,MeSH ID:C538321 | UMLS ID:C0268642 | histidinuria due to a renal tubular defect | OMIM ID:235830 | MONDO:0009346 | Histidinuria renal tubular defect +BMGC_DS04954,BMG_DS010277,lysinuric protein intolerance | DOID:0060439 | MeSH ID:C562687 | OMIM ID:222700 | MONDO:0009109 | UMLS ID:C0268647 | Lysinuric Protein Intolerance +BMGC_DS04955,BMG_DS010282,DOID:0112265 | OMIM ID:242600 | MeSH ID:C536285 | MONDO:0009448 | UMLS ID:C0268654 | Iminoglycinuria (disorder) | Iminoglycinuria | iminoglycinuria | SNOMEDCT ID:84121007 | OMIM ID:MTHU056935 +BMGC_DS04956,BMG_DS010294,UMLS ID:C0268669 | SNOMEDCT ID:67360000 | DOID:0070317 | Cardiovascular beriberi | Wet beriberi (disorder) | MONDO:0024183 | wet beriberi | ICD10 ID:E51.12 | Wet beriberi +BMGC_DS04957,BMG_DS010295,SNOMEDCT ID:79389008 | DOID:0070318 | Polyneuropathy in beriberi | ICD10 ID:E51.11 | Dry beriberi (disorder) | dry beriberi | Beriberi neuropathy (disorder) | SNOMEDCT ID:71021002 | Beriberi neuropathy | Vitamin B>1< deficiency neuropathy | MONDO:0024182 | Dry beriberi | Neuropathic beriberi | Neuropathy due to vitamin B1 deficiency | Thiamine deficiency neuropathy | UMLS ID:C0268670 +BMGC_DS04958,BMG_DS010302,MeSH ID:C531633 | ICD11 ID:5B7Z | biotin deficiency | DOID:0050810 | Unspecified undernutrition | Biotin deficiency (disorder) | UMLS ID:C0268680 | Deficiency of biotin | SNOMEDCT ID:413652008 | Biotin deficiency | ICD10 ID:E53.8 +BMGC_DS04959,BMG_DS010307,"Pseudo-vitamin-D-deficient rickets | Vitamin D-dependent rickets, type 1 (disorder) | SNOMEDCT ID:67049004 | Vitamin D-dependent rickets, type 1 | Vitamin D-dependent rickets type I | Pseudodeficiency rickets | vitamin D-dependent rickets, type 1 | Pseudovitamin D-resistant rickets | MONDO:0009924 | Pseudovitamin D deficiency rickets | Calcidiol 1-monooxygenase defect | VDDR I - Vitamin D-dependent rickets type I | PDDR - Pseudovitamin D deficiency rickets | 1-alpha-hydroxylase deficiency | UMLS ID:C0268689 | 25-Hydroxycholecalciferol-1-hydroxylase deficiency" +BMGC_DS04960,BMG_DS010316,Uremic neuropathy | Uraemic neuropathy | uremic neuropathy | Uremic neuropathy (disorder) | MONDO:0003084 | UMLS ID:C0268708 | SNOMEDCT ID:11659006 | DOID:4675 +BMGC_DS04961,BMG_DS010328,Pyelonephritis due to kidney stone (disorder) | UMLS ID:C0268722 | ICD10 ID:N20 | Pyelonephritis due to kidney stone | Calculous pyelonephritis | Calculous pyelonephritis (disorder) | SNOMEDCT ID:23754003 | SNOMEDCT ID:197766000 +BMGC_DS04962,BMG_DS010333,Renal glomerular disorder | Renal glomerular syndrome | SNOMEDCT ID:76910007 | Renal glomerular disease | UMLS ID:C0268731 | Renal glomerular disease (disorder) +BMGC_DS04963,BMG_DS010336,UMLS ID:C0268734 | SNOMEDCT ID:58574008 | Acute nephropathy (disorder) | AKD - acute kidney disease | Acute nephropathy +BMGC_DS04964,BMG_DS010342,"MeSH ID:D015432 | UMLS ID:C0268742 | Membranoproliferative Glomerulonephritis, Type I | Glomerulonephritis, Membranoproliferative" +BMGC_DS04965,BMG_DS010343,"Membranoproliferative Glomerulonephritis, Type II | UMLS ID:C0268743 | dense deposit disease | Glomerulonephritis, Membranoproliferative | MeSH ID:D015432 | MONDO:0019736" +BMGC_DS04966,BMG_DS010347,Diffuse mesangial sclerosis (disorder) | UMLS ID:C0268747 | Diffuse mesangial sclerosis | SNOMEDCT ID:111406002 +BMGC_DS04967,BMG_DS010382,Renal vascular disease | Vascular disorder of kidney | renal artery disease | DOID:2388 | Renal vascular disorder | UMLS ID:C0268790 | SNOMEDCT ID:16934004 | Renal vascular disorder (disorder) +BMGC_DS04968,BMG_DS010391,Acquired renal cystic disease | Acquired renal cystic disease (disorder) | UMLS ID:C0268799 | SNOMEDCT ID:105999006 | DOID:9621 | Acquired renal cyst | non-congenital cyst of kidney | MONDO:0004840 +BMGC_DS04969,BMG_DS010402,DOID:0081058 | dipsogenic diabetes insipidus | MONDO:0022993 | UMLS ID:C0268813 | Dipsogenic Diabetes Insipidus | MeSH ID:C548013 +BMGC_DS04970,BMG_DS010408,Lower urinary tract infectious disease (disorder) | UTI - Lower urinary tract infection | SNOMEDCT ID:4009004 | Lower urinary tract infection | UMLS ID:C0268821 | Lower urinary tract infectious disease +BMGC_DS04971,BMG_DS010421,Cystitis glandularis | glandular cystitis | SNOMEDCT ID:72815004 | MONDO:0002287 | DOID:2392 | UMLS ID:C0268837 | Cystitis glandularis (disorder) +BMGC_DS04972,BMG_DS010424,"UMLS ID:C0268849 | MeSH ID:D053201 | Overactive Detrusor | Urinary Bladder, Overactive" +BMGC_DS04973,BMG_DS010531,SNOMEDCT ID:32608004 | Fibrosis of corpus cavernosum | Fibrosis of corpus cavernosum (disorder) | UMLS ID:C0269014 +BMGC_DS04974,BMG_DS010545,"acute female pelvic peritonitis | MONDO:0004940 | DOID:9978 | ICD10 ID:N73.3 | ICD11 ID:GA05.2 | Female pelvic peritonitis, unspecified | UMLS ID:C0269032 | Female acute pelvic peritonitis" +BMGC_DS04975,BMG_DS010551,SNOMEDCT ID:8912009 | acute salpingitis | Acute salpingitis | MONDO:0001173 | Acute salpingitis (disorder) | DOID:10973 | ICD10 ID:N70.01 | UMLS ID:C0269038 +BMGC_DS04976,BMG_DS010553,ICD10 ID:N70.11 | Chronic salpingitis | UMLS ID:C0269041 | SNOMEDCT ID:55551005 | MONDO:0003617 | DOID:5731 | chronic salpingitis | Chronic salpingitis (disorder) +BMGC_DS04977,BMG_DS010555,salpingitis isthmica nodosa | UMLS ID:C0269043 | Adenosis of fallopian tube | SNOMEDCT ID:36742000 | Adenosalpingitis | MONDO:0003616 | Salpingitis isthmica nodosa | DOID:5730 | Salpingitis isthmica nodosa (disorder) +BMGC_DS04978,BMG_DS010557,SNOMEDCT ID:28783002 | MONDO:0001786 | DOID:13736 | Inflammatory disease of the uterus | uterine inflammatory disease | Inflammatory disease of the uterus (disorder) | UMLS ID:C0269047 +BMGC_DS04979,BMG_DS010560,MONDO:0042451 | Endomyometritis | Endomyometritis (disorder) | Endometritis | MeSH ID:D004716 | endomyometritis | UMLS ID:C0269050 | SNOMEDCT ID:88027004 +BMGC_DS04980,BMG_DS010569,DOID:10616 | MONDO:0001081 | Acute cervicitis (disorder) | UMLS ID:C0269061 | acute cervicitis | Acute cervicitis | SNOMEDCT ID:19272000 +BMGC_DS04981,BMG_DS010570,UMLS ID:C0269062 | DOID:1513 | SNOMEDCT ID:198210003 | Chronic cervicitis (disorder) | SNOMEDCT ID:56728002 | Chronic cervicitis | chronic cervicitis | MONDO:0002030 +BMGC_DS04982,BMG_DS010605,DOID:11427 | Endosalpingiosis (disorder) | UMLS ID:C0269106 | Endosalpingiosis | SNOMEDCT ID:55850004 | MONDO:0001283 | endosalpingiosis +BMGC_DS04983,BMG_DS010606,DOID:361 | Endometriosis of cervix | Endometriosis of cervix (disorder) | cervix endometriosis | SNOMEDCT ID:61640006 | UMLS ID:C0269107 | MONDO:0002706 +BMGC_DS04984,BMG_DS010647,DOID:9043 | MONDO:0004702 | UMLS ID:C0269194 | uterine cervix leukoplakia +BMGC_DS04985,BMG_DS010694,UMLS ID:C0269269 | nipples inverted | OMIM ID:163600 | MONDO:0008100 +BMGC_DS04986,BMG_DS010821,UMLS ID:C0269658 | mild pre-eclampsia | MONDO:0001072 +BMGC_DS04987,BMG_DS010832,MeSH ID:C535817 | UMLS ID:C0269680 | Pruritic urticarial papules plaques of pregnancy | OMIM ID:178995 | MONDO:0008353 | pruritic urticarial papules and plaques of pregnancy +BMGC_DS04988,BMG_DS010900,SNOMEDCT ID:22399000 | UMLS ID:C0269932 | SNOMEDCT ID:200179002 | Postpartum endometritis | Puerperal endometritis | Puerperal endometritis (disorder) +BMGC_DS04989,BMG_DS010954,DOID:424 | UMLS ID:C0270163 | MONDO:0002929 | pulmonary immaturity +BMGC_DS04990,BMG_DS010968,UMLS ID:C0270204 | MONDO:0006567 | DOID:12043 | Kernicterus (& [due to isoimmunisation]) (disorder) | SNOMEDCT ID:268880009 | ICD11 ID:KA86 | Kernicterus - due to isoimm. | SNOMEDCT ID:157135006 | Kernicterus | Kernicterus (& [due to isoimmunization]) | SNOMEDCT ID:359007 | Kernicterus due to isoimmunization | Kernicterus due to isoimmunisation | ICD10 ID:P57.0 | Kernicterus due to isoimmunization (disorder) | Neonatal kernicterus | SNOMEDCT ID:206433007 | kernicterus due to isoimmunization | Kernicterus (& [due to isoimmunisation]) +BMGC_DS04991,BMG_DS010972,Lucey-Driscoll syndrome | SNOMEDCT ID:47444008 | Transient familial neonatal hyperbilirubinemia | Lucey-Driscoll syndrome (disorder) | Transient familial neonatal hyperbilirubinaemia | MONDO:0009383 | UMLS ID:C0270210 | transient familial neonatal hyperbilirubinemia | OMIM ID:237900 +BMGC_DS04992,BMG_DS010980,"MeSH ID:D013746 | Tetany | Tetany, Neonatal | UMLS ID:C0270224" +BMGC_DS04993,BMG_DS011013,MONDO:0000022 | nocturnal enuresis | UMLS ID:C0270327 +BMGC_DS04994,BMG_DS011014,paranoid schizophrenia | DOID:1229 | UMLS ID:C0270398 +BMGC_DS04995,BMG_DS011016,generalized anxiety disorder | DOID:14320 | MONDO:0001942 | UMLS ID:C0270549 +BMGC_DS04996,BMG_DS011019,Leucoencephalopathy | UMLS ID:C0270612 | SNOMEDCT ID:22811006 | Leukoencephalopathies | MeSH ID:D056784 | Leukoencephalopathy | Leukoencephalopathy (disorder) | OMIM ID:MTHU001673 +BMGC_DS04997,BMG_DS011027,"Myelitis, Acute Transverse | acute transverse myelitis | MeSH ID:D009188 | MONDO:0015342 | Myelitis, Transverse | UMLS ID:C0270627" +BMGC_DS04998,BMG_DS011029,MeSH ID:D020802 | DOID:11387 | MONDO:0005752 | epidural abscess | UMLS ID:C0270629 | Epidural Abscess +BMGC_DS04999,BMG_DS011034,UMLS ID:C0270638 | Cavernous Sinus Thrombophlebitis | MeSH ID:D020226 | Cavernous Sinus Thrombosis +BMGC_DS05000,BMG_DS011035,MONDO:0002693 | UMLS ID:C0270639 | lateral sinus thrombosis | DOID:3574 | MeSH ID:D020227 | Lateral Sinus Thrombosis +BMGC_DS05001,BMG_DS011087,UMLS ID:C0270707 | DOID:2510 | MONDO:0005817 | Kluver-Bucy syndrome +BMGC_DS05002,BMG_DS011093,"MeSH ID:D019636 | Degenerative Diseases, Central Nervous System | Neurodegenerative Diseases | UMLS ID:C0270715" +BMGC_DS05003,BMG_DS011097,Hydrocephalus Ex-Vacuo | UMLS ID:C0270720 | Hydrocephalus | MeSH ID:D006849 +BMGC_DS05004,BMG_DS011101,Infantile Neuroaxonal Dystrophy | UMLS ID:C0270724 | MONDO:0024457 | MeSH ID:D019150 | Neuroaxonal Dystrophies | OMIM ID:256600 | neurodegeneration with brain iron accumulation 2A +BMGC_DS05005,BMG_DS011103,Alexander Disease | Alexander disease | MeSH ID:D038261 | MONDO:0008752 | OMIM ID:203450 | DOID:4252 | UMLS ID:C0270726 +BMGC_DS05006,BMG_DS011105,DOID:4751 | MONDO:0003122 | MeSH ID:D020955 | striatonigral degeneration | Striatonigral Degeneration | UMLS ID:C0270733 +BMGC_DS05007,BMG_DS011108,essential tremor | DOID:4990 | MONDO:0003233 | Essential Tremor | MeSH ID:D020329 | UMLS ID:C0270736 +BMGC_DS05008,BMG_DS011119,MeSH ID:D013132 | MONDO:0100310 | UMLS ID:C0270749 | Marie Cerebellar Ataxia | hereditary cerebellar ataxia | Spinocerebellar Degenerations +BMGC_DS05009,BMG_DS011124,Spinocerebellar Degenerations | Corticostriatal-Spinal Degeneration | UMLS ID:C0270755 | MeSH ID:D013132 +BMGC_DS05010,BMG_DS011132,Motor Neuron Disease | UMLS ID:C0270763 | MONDO:0024257 | MeSH ID:D016472 | hereditary motor neuron disease | Familial Motor Neuron Disease +BMGC_DS05011,BMG_DS011133,"UMLS ID:C0270764 | MeSH ID:D016472 | Motor Neuron Disease | Motor Neuron Disease, Lower" +BMGC_DS05012,BMG_DS011134,"Muscular Atrophy, Spinal | MeSH ID:D009134 | Myelopathic Muscular Atrophy | UMLS ID:C0270765" +BMGC_DS05013,BMG_DS011148,"MeSH ID:D015140 | Binswanger Disease | Dementia, Vascular | UMLS ID:C0270786" +BMGC_DS05014,BMG_DS011165,MeSH ID:D002547 | UMLS ID:C0270807 | Cerebral Palsy | MONDO:0022700 | Monoplegic Cerebral Palsy | cerebral palsy spastic monoplegic +BMGC_DS05015,BMG_DS011168,UMLS ID:C0270810 | peroneal nerve paralysis | MONDO:0006903 | Peroneal Nerve Paralysis | Peroneal Neuropathies | DOID:6925 | MeSH ID:D020427 +BMGC_DS05016,BMG_DS011173,"UMLS ID:C0270819 | MeSH ID:D020195 | Epilepsy, Reflex | Reflex Epilepsy, Cursive (Running)" +BMGC_DS05017,BMG_DS011174,"Gelastic Epilepsy | MeSH ID:D004828 | UMLS ID:C0270820 | Epilepsies, Partial" +BMGC_DS05018,BMG_DS011177,DOID:11832 | UMLS ID:C0270824 | visual epilepsy | MONDO:0001386 +BMGC_DS05019,BMG_DS011182,SNOMEDCT ID:407675009 | Focal impaired awareness seizure | Focal onset impaired awareness epileptic seizure (finding) | Focal onset impaired awareness seizure | Focal-onset impaired awareness epileptic seizure | UMLS ID:C0270834 | Focal onset impaired awareness epileptic seizure | FIAS - focal impaired awareness seizure +BMGC_DS05020,BMG_DS011183,"UMLS ID:C0270838 | SNOMEDCT ID:20544001 | Secondarily generalized seizures | Secondarily generalized seizures, NOS | Secondarily generalised seizures | Secondarily generalized seizures (finding)" +BMGC_DS05021,BMG_DS011184,Seizures | Tonic Seizures | UMLS ID:C0270844 | MeSH ID:D012640 +BMGC_DS05022,BMG_DS011185,Atonic seizure (finding) | SNOMEDCT ID:246554004 | Atonic seizure | SNOMEDCT ID:365883006 | Atonic seizures | Finding of atonic seizure (finding) | UMLS ID:C0270846 | Atonic seizure - finding | Atonic seizure (disorder) | SNOMEDCT ID:42365007 +BMGC_DS05023,BMG_DS011186,"Benign Focal Epilepsy, Childhood | UMLS ID:C0270847 | MeSH ID:D004828 | Epilepsies, Partial" +BMGC_DS05024,BMG_DS011187,Extratemporal epilepsy | UMLS ID:C0270849 | DOID:2544 | extratemporal epilepsy | SNOMEDCT ID:111498005 | MONDO:0002338 | Extratemporal epilepsy (disorder) +BMGC_DS05025,BMG_DS011188,IGE - idiopathic generalised epilepsy | IGE - idiopathic generalized epilepsy | idiopathic generalized epilepsy | SNOMEDCT ID:36803009 | Idiopathic generalized epilepsy | Idiopathic generalised epilepsy | UMLS ID:C0270850 | Idiopathic generalized epilepsy (disorder) | OMIM ID:600669 | MONDO:0005579 | OMIM ID:MTHU076671 +BMGC_DS05026,BMG_DS011189,UMLS ID:C0270851 | DOID:14264 | benign neonatal seizures +BMGC_DS05027,BMG_DS011190,"Myoclonic Epilepsy, Juvenile | OMIM ID:254770 | juvenile myoclonic epilepsy | OMIM ID:606904 | UMLS ID:C0270853 | MONDO:0009696 | Juvenile Myoclonic Epilepsy | DOID:4890 | MeSH ID:D020190" +BMGC_DS05028,BMG_DS011191,"Symptomatic Generalized Epilepsy | Epilepsy, Generalized | UMLS ID:C0270854 | MeSH ID:D004829" +BMGC_DS05029,BMG_DS011192,Early myoclonic encephalopathy | early myoclonic encephalopathy | SNOMEDCT ID:44423001 | UMLS ID:C0270855 | Early myoclonic encephalopathy (disorder) | Symptomatic early myoclonic encephalopathy | MONDO:0016022 +BMGC_DS05030,BMG_DS011193,"reflex epilepsy | MeSH ID:D020195 | UMLS ID:C0270857 | DOID:2548 | Epilepsy, Reflex | MONDO:0017768" +BMGC_DS05031,BMG_DS011194,Abdominal Migraine | UMLS ID:C0270858 | Migraine Disorders | MeSH ID:D008881 +BMGC_DS05032,BMG_DS011196,Migraine with Aura | UMLS ID:C0270860 | MONDO:0043219 | Basilar-Type Migraine | migraine with brainstem aura | MeSH ID:D020325 +BMGC_DS05033,BMG_DS011198,Hemiplegic migraine | SNOMEDCT ID:59292006 | ICD10 ID:G43.4 | Hemiplegic migraine (disorder) | UMLS ID:C0270862 +BMGC_DS05034,BMG_DS011204,Facial Nerve Diseases | MeSH ID:D005155 | Facial Myokymia | UMLS ID:C0270871 | MONDO:0016373 | isolated facial myokymia +BMGC_DS05035,BMG_DS011208,Facial Nerve Diseases | MeSH ID:D005155 | Facial Nerve Motor Disorders | UMLS ID:C0270876 +BMGC_DS05036,BMG_DS011209,Facial Nerve Diseases | MeSH ID:D005155 | Facial Nerve Sensory Disorders | UMLS ID:C0270877 +BMGC_DS05037,BMG_DS011230,DOID:12527 | UMLS ID:C0270909 | Lesion of common peroneal nerve | Common peroneal nerve lesion | common peroneal nerve lesion | MONDO:0001542 | Lateral popliteal nerve lesion | Lesion of lateral popliteal nerve | SNOMEDCT ID:399107008 | Common peroneal nerve lesion (disorder) +BMGC_DS05038,BMG_DS011232,OMIM ID:118220 | Charcot-Marie-Tooth disease type 1A | UMLS ID:C0270911 | MONDO:0007309 +BMGC_DS05039,BMG_DS011233,MONDO:0007307 | OMIM ID:118200 | Charcot-Marie-Tooth disease type 1B | UMLS ID:C0270912 +BMGC_DS05040,BMG_DS011234,"MONDO:0010995 | OMIM ID:601098 | UMLS ID:C0270913 | Charcot-Marie-Tooth disease type 1C | Charcot-Marie-Tooth disease, Type 1C | DOID:0110151 | MeSH ID:C537984" +BMGC_DS05041,BMG_DS011235,hereditary sensory and autonomic neuropathy type 2 | Hereditary Motor and Sensory-Neuropathy Type II | MeSH ID:D002607 | UMLS ID:C0270914 | DOID:0070161 | MONDO:0018993 | Charcot-Marie-Tooth disease type 2 | Charcot-Marie-Tooth Disease +BMGC_DS05042,BMG_DS011237,Axonal neuropathy | SNOMEDCT ID:60703000 | UMLS ID:C0270921 | Axonal neuropathy (disorder) | DOID:7319 | OMIM ID:MTHU003516 | axonal neuropathy +BMGC_DS05043,BMG_DS011238,Peripheral demyelinating neuropathy | UMLS ID:C0270922 | DOID:5214 | Demyelinating polyneuropathy | demyelinating polyneuropathy | Peripheral demyelinating neuropathy (disorder) | OMIM ID:MTHU036239 | MONDO:0003334 | SNOMEDCT ID:23414001 +BMGC_DS05044,BMG_DS011244,MeSH ID:D020364 | UMLS ID:C0270932 | paraneoplastic polyneuropathy | DOID:8681 | Paraneoplastic Polyneuropathy | MONDO:0006888 +BMGC_DS05045,BMG_DS011259,"UMLS ID:C0270952 | oculopharyngeal muscular dystrophy | MeSH ID:D039141 | Muscular Dystrophy, Oculopharyngeal | MONDO:0008116 | DOID:11719" +BMGC_DS05046,BMG_DS011264,MeSH ID:D009224 | Thomsen and Becker disease | UMLS ID:C0270959 | MONDO:0009710 | Myotonia Levior | Myotonia Congenita +BMGC_DS05047,BMG_DS011265,MONDO:0019952 | Congenital myopathy | Congenital myopathy (disorder) | congenital myopathy | UMLS ID:C0270960 | SNOMEDCT ID:18148005 +BMGC_DS05048,BMG_DS011267,Multi-core disease | SNOMEDCT ID:55133004 | Multi-core congenital myopathy | MONDO:0018948 | UMLS ID:C0270962 | Minicore disease | Multi-core congenital myopathy (disorder) | multiminicore myopathy | Multiminicore disease | Multi-minicore disease | Multicore disease +BMGC_DS05049,BMG_DS011272,MONDO:0009683 | UMLS ID:C0270968 | OMIM ID:254110 | autosomal recessive limb-girdle muscular dystrophy type 2H | Limb-girdle muscular dystrophy type 2H | MeSH ID:C535897 +BMGC_DS05050,BMG_DS011273,Zebra body myopathy (disorder) | zebra body myopathy | UMLS ID:C0270969 | SNOMEDCT ID:34513009 | MONDO:0019949 | Zebra body myopathy +BMGC_DS05051,BMG_DS011274,Reducing-body myopathy | reducing body myopathy | MONDO:0019948 | SNOMEDCT ID:42779002 | UMLS ID:C0270970 | Reducing-body myopathy (disorder) +BMGC_DS05052,BMG_DS011276,UMLS ID:C0270972 | MONDO:0016033 | De Lange Syndrome | Cornelia De Lange Syndrome | MeSH ID:D003635 | DOID:11725 | Cornelia de Lange syndrome +BMGC_DS05053,BMG_DS011293,Siderosis of eye | MONDO:0001355 | ocular siderosis | SNOMEDCT ID:25277000 | Siderosis of eye (disorder) | UMLS ID:C0271001 | Ocular siderosis | siderosis of eye | ICD10 ID:H44.32 | DOID:11754 +BMGC_DS05054,BMG_DS011315,Macular oedema | SNOMEDCT ID:37231002 | Macular retinal edema (disorder) | DOID:4449 | UMLS ID:C0271051 | MONDO:0003005 | macular retinal edema | Macular retinal edema | Macular retinal oedema | Macular edema +BMGC_DS05055,BMG_DS011330,MONDO:0018460 | ICD10 ID:H35.06 | Eales disease | UMLS ID:C0271073 | MeSH ID:C538011 +BMGC_DS05056,BMG_DS011335,Partial occlusion of retinal vein | Partial occlusion of retinal vein (disorder) | UMLS ID:C0271080 | SNOMEDCT ID:65593009 | partial of retinal vein occlusion | partial retinal vein occlusion | MONDO:0002088 | DOID:1726 +BMGC_DS05057,BMG_DS011337,MONDO:0100114 | dry age related macular degeneration | UMLS ID:C0271083 +BMGC_DS05058,BMG_DS011338,Exudative age-related macular degeneration (disorder) | ICD10 ID:H35.32 | Wet senile macular degeneration | EMD - Exudative macular degeneration | UMLS ID:C0271084 | Neovascular age-related macular degeneration | SNOMEDCT ID:11290001 | SNOMEDCT ID:414173003 | Disciform senile macular retinal degeneration | Exudative senile macular retinal degeneration | Junius-Kuhnt degeneration | Kuhnt-Junius degeneration | Subretinal neovascularization of macula | Subretinal neovascularisation of macula | Exudative age-related macular degeneration | Kuhnt-Junius degeneration (disorder) | Disciform macular degeneration | Wet senile macular retinal degeneration | DOID:10873 +BMGC_DS05059,BMG_DS011340,Toxic maculopathy (disorder) | UMLS ID:C0271086 | DOID:9867 | SNOMEDCT ID:193389005 | ICD10 ID:H35.38 | MONDO:0004904 | SNOMEDCT ID:44115007 | Toxic maculopathy | toxic maculopathy +BMGC_DS05060,BMG_DS011344,"UMLS ID:C0271091 | Retinoschisis | MeSH ID:D041441 | Retinoschisis, Juvenile, X-Linked" +BMGC_DS05061,BMG_DS011345,Progressive cone dystrophy (without rod involvement) (disorder) | Progressive cone dystrophy (without rod involvement) | Progressive rod dystrophy | SNOMEDCT ID:267613004 | UMLS ID:C0271092 | Progressive retinal dystrophy: [cone (without rod involvement)] or [rod] (disorder) | SNOMEDCT ID:193404003 | Progressive retinal dystrophy: [cone (without rod involvement)] or [rod] +BMGC_DS05062,BMG_DS011346,SNOMEDCT ID:193405002 | SNOMEDCT ID:193407005 | SNOMEDCT ID:70099003 | Stargardt's disease | UMLS ID:C0271093 | MONDO:0019353 | Stargardt's disease (disorder) | ICD10 ID:H35.53 | Familial juvenile macular degeneration syndrome | Stargardt disease +BMGC_DS05063,BMG_DS011348,Usher syndrome | DOID:0110827;DOID:0110828;DOID:0050439 | Usher Syndrome | Usher Syndromes | Usher syndrome type 3 | MONDO:0019501 | Usher syndrome type 2 | MeSH ID:D052245 | UMLS ID:C0271097 +BMGC_DS05064,BMG_DS011349,DOID:4353 | ciliary body disease | SNOMEDCT ID:68575007 | Disorder of ciliary body (disorder) | MONDO:0002970 | Disorder of ciliary body | ciliary body disorder | UMLS ID:C0271100 +BMGC_DS05065,BMG_DS011368,"UMLS ID:C0271130 | pupillary membrane, persistence of | MONDO:0008352 | OMIM ID:178900" +BMGC_DS05066,BMG_DS011369,MeSH ID:D011681 | Occluded Pupils | Pupil Disorders | UMLS ID:C0271131 +BMGC_DS05067,BMG_DS011377,"MeSH ID:D005902 | UMLS ID:C0271148 | Secondary Open Angle Glaucoma | Glaucoma, Open-Angle" +BMGC_DS05068,BMG_DS011378,SNOMEDCT ID:21571006 | UMLS ID:C0271149 | Secondary angle-closure glaucoma (disorder) | Secondary angle-closure glaucoma +BMGC_DS05069,BMG_DS011381,UMLS ID:C0271152 | Ciliary block glaucoma | Aqueous humour misdirect | SNOMEDCT ID:10100008 | Aqueous humor misdirect | Malignant glaucoma (disorder) | ICD10 ID:H40.83 | Malignant glaucoma | SNOMEDCT ID:370504007 | Aqueous humor misdirect (disorder) | Glaucoma fulminans +BMGC_DS05070,BMG_DS011383,Aphakic glaucoma | SNOMEDCT ID:15374009 | Secondary glaucoma due to aphakia | OMIM ID:MTHU002395 | UMLS ID:C0271154 | Secondary glaucoma due to aphakia (disorder) +BMGC_DS05071,BMG_DS011389,UMLS ID:C0271163 | DOID:10997 | SNOMEDCT ID:52421005 | Incipient cataract | Incipient cataract (disorder) | Water clefts | immature cataract +BMGC_DS05072,BMG_DS011391,UMLS ID:C0271166 | nuclear senile cataract | MONDO:0001847 | DOID:13963 +BMGC_DS05073,BMG_DS011397,Irvine-Gass Syndrome | UMLS ID:C0271178 | MeSH ID:D008269 | Macular Edema +BMGC_DS05074,BMG_DS011399,Severe myopia | UMLS ID:C0271183 | High myopia | SNOMEDCT ID:34187009 | Severe myopia (disorder) | OMIM ID:MTHU002321 +BMGC_DS05075,BMG_DS011403,"Diplopia | UMLS ID:C0271190 | MeSH ID:D004172 | Diplopia, Unilateral" +BMGC_DS05076,BMG_DS011412,"UMLS ID:C0271215 | MeSH ID:D001766 | Blindness | Blindness, Legal" +BMGC_DS05077,BMG_DS011428,Cogan's syndrome (disorder) | SNOMEDCT ID:26018001 | UMLS ID:C0271270 | SNOMEDCT ID:231906002 | Oculomotor apraxia | Oculomotor apraxia - Cogan type | Cogan's syndrome | Oculovestibuloauditory syndrome | SNOMEDCT ID:405810005 | DOID:0060216 | MONDO:0015453 | Cogan syndrome +BMGC_DS05078,BMG_DS011433,Posterior corneal pigmentation (& [Krukenberg spindle]) (disorder) | Posterior corneal pigmentation | Krukenberg spindle | SNOMEDCT ID:85430004 | SNOMEDCT ID:193807000 | Krukenberg spindle (finding) | UMLS ID:C0271278 | Posterior corneal pigmentation (& [Krukenberg spindle]) +BMGC_DS05079,BMG_DS011440,OMIM ID:121800 | DOID:0060456 | Schnyder's crystalline corneal dystrophy | Schnyder crystalline corneal dystrophy (disorder) | Schnyder corneal dystrophy | MONDO:0007374 | Schnyder crystalline corneal dystrophy | UMLS ID:C0271287 | MeSH ID:C535475 | SNOMEDCT ID:420212002 +BMGC_DS05080,BMG_DS011459,DOID:9986 | orbit lymphoma | UMLS ID:C0271333 | MONDO:0004942 +BMGC_DS05081,BMG_DS011462,SNOMEDCT ID:1207009 | Glaucomatous atrophy of optic disc | Glaucomatous atrophy of optic disc (disorder) | glaucomatous atrophy of optic disk | UMLS ID:C0271342 | glaucomatous atrophy of optic disc | Optic disc glaucomatous atrophy | MONDO:0001006 | DOID:10337 | Glaucomatous optic atrophy +BMGC_DS05082,BMG_DS011471,UMLS ID:C0271353 | third cranial nerve disease | MONDO:0003546 | DOID:562 | third cranial nerve disorder | Third cranial nerve disease | Oculomotor nerve disorder | Third cranial nerve disease (disorder) | Oculomotor nerve disease | Third cranial nerve disorder | SNOMEDCT ID:60750009 +BMGC_DS05083,BMG_DS011472,Abducens Nerve Diseases | DOID:10865 | abducens nerve disorder | UMLS ID:C0271355 | MeSH ID:D020434 | MONDO:0020594 | abducens nerve palsy +BMGC_DS05084,BMG_DS011484,Oculomotor Nerve Diseases | MONDO:0001144 | DOID:10864 | UMLS ID:C0271370 | Partial Third-Nerve Palsy | MeSH ID:D015840 | partial third-nerve palsy +BMGC_DS05085,BMG_DS011485,Oculomotor Nerve Diseases | DOID:10866 | UMLS ID:C0271371 | total third-nerve palsy | MONDO:0001145 | Total Third-Nerve Palsy | MeSH ID:D015840 +BMGC_DS05086,BMG_DS011486,Brain Stem Infarctions | MeSH ID:D020526 | Claude Syndrome | UMLS ID:C0271373 +BMGC_DS05087,BMG_DS011488,IV nerve palsy | Fourth cranial nerve paresis (disorder) | Fourth cranial nerve paralysis | Fourth cranial nerve paresis | Trochlear nerve paralysis | Superior oblique palsy | 4th nerve palsy | fourth cranial nerve palsy | UMLS ID:C0271375 | trochlear nerve disease | Trochlear nerve weakness | DOID:13864 | Fourth cranial nerve palsy | Trochlear nerve palsy | SNOMEDCT ID:67883005 | MONDO:0001146 | SNOMEDCT ID:20610004 | Fourth nerve palsy (disorder) | Fourth nerve palsy +BMGC_DS05088,BMG_DS011491,UMLS ID:C0271379 | Ocular Motility Disorders | MeSH ID:D015835 | Convergence Insufficiency +BMGC_DS05089,BMG_DS011492,Ocular Motility Disorders | MeSH ID:D015835 | UMLS ID:C0271380 | Convergence Excess +BMGC_DS05090,BMG_DS011493,"Periodic Alternating Nystagmus | UMLS ID:C0271382 | Nystagmus, Pathologic | MeSH ID:D009759" +BMGC_DS05091,BMG_DS011494,"Symptomatic Nystagmus | Nystagmus, Pathologic | MeSH ID:D009759 | UMLS ID:C0271383" +BMGC_DS05092,BMG_DS011495,"Spontaneous Ocular Nystagmus | MONDO:0001361 | Nystagmus, Pathologic | MeSH ID:D009759 | UMLS ID:C0271384 | DOID:11771 | spontaneous ocular nystagmus" +BMGC_DS05093,BMG_DS011496,"MeSH ID:D009759 | UMLS ID:C0271385 | Nystagmus, Pathologic | Horizontal Nystagmus" +BMGC_DS05094,BMG_DS011497,"Nystagmus, Pathologic | Vertical Nystagmus | MeSH ID:D009759 | UMLS ID:C0271386" +BMGC_DS05095,BMG_DS011498,"Rebound Nystagmus | Nystagmus, Pathologic | UMLS ID:C0271387 | MeSH ID:D009759" +BMGC_DS05096,BMG_DS011499,"UMLS ID:C0271388 | MeSH ID:D009759 | Nystagmus, Pathologic | Pendular Nystagmus" +BMGC_DS05097,BMG_DS011500,"Jerk Nystagmus | Nystagmus, Pathologic | UMLS ID:C0271389 | MeSH ID:D009759" +BMGC_DS05098,BMG_DS011505,Paroxysmal Ocular Dyskinesia | UMLS ID:C0271396 | MeSH ID:D015835 | Ocular Motility Disorders +BMGC_DS05099,BMG_DS011521,Disorder of middle ear | UMLS ID:C0271428 | Disorder of middle ear (disorder) | DOID:5100 | middle ear disease | middle ear disorder | SNOMEDCT ID:68996008 | SNOMEDCT ID:155260002 | Tubotympanic disease | MONDO:0003276 +BMGC_DS05100,BMG_DS011522,Acute otitis media | SNOMEDCT ID:3110003 | Acute otitis media (disorder) | UMLS ID:C0271429 +BMGC_DS05101,BMG_DS011525,Acute transudative otitis media | UMLS ID:C0271432 | SNOMEDCT ID:35183001 | DOID:3697 | Acute middle ear effusion | acute transudative otitis media | Acute transudative otitis media (disorder) | MONDO:0002738 | Acute MEE - Acute middle ear effusion +BMGC_DS05102,BMG_DS011538,Non-suppurative otitis media | UMLS ID:C0271446 | DOID:11180 | Non-suppurative otitis media (disorder) | non-suppurative otitis media | MONDO:0001212 | SNOMEDCT ID:275481002 +BMGC_DS05103,BMG_DS011544,"Otitis media with effusion - purulent | Chronic otitis media with effusion, purulent | Chronic secretory otitis media, purulent | UMLS ID:C0271454 | Chronic purulent otitis media | Chronic purulent otitis media (disorder) | CSOM - Chronic suppurative otitis media | Chronic suppurative otitis media | DOID:14247 | SNOMEDCT ID:38394007 | MONDO:0001920 | Chronic otitis media with perforation | chronic purulent otitis media" +BMGC_DS05104,BMG_DS011551,polyp of middle ear | UMLS ID:C0271466 | DOID:7439 | MONDO:0004223 +BMGC_DS05105,BMG_DS011611,necrosis of pituitary | DOID:3646 | Necrosis of pituitary | SNOMEDCT ID:59572000 | Necrosis of pituitary (disorder) | MONDO:0002721 | UMLS ID:C0271558 +BMGC_DS05106,BMG_DS011614,STH deficiency | Somatotropin deficiency (disorder) | Growth hormone deficiency | SNOMEDCT ID:44008002 | Somatotropin deficiency | UMLS ID:C0271561 | GHD +BMGC_DS05107,BMG_DS011618,"OMIM ID:173100 | MONDO:0008250 | isolated growth hormone deficiency type II | UMLS ID:C0271567 | Isolated Growth Hormone Deficiency, Type II | DOID:0060872 | MeSH ID:C562704" +BMGC_DS05108,BMG_DS011619,UMLS ID:C0271568 | MeSH ID:D046150 | MONDO:0009877 | OMIM ID:262500 | Laron Syndrome | Laron syndrome | DOID:9521 +BMGC_DS05109,BMG_DS011624,"Empty Sella Syndrome | MeSH ID:D004652 | Empty Sella Syndrome, Primary | UMLS ID:C0271574" +BMGC_DS05110,BMG_DS011625,MeSH ID:C562705 | pituitary dwarfism with large sella turcica | OMIM ID:262710 | MONDO:0009881 | UMLS ID:C0271575 | Pituitary Dwarfism with Large Sella Turcica +BMGC_DS05111,BMG_DS011627,UMLS ID:C0271577 | Isolated gonadotropin deficiency (disorder) | Isolated gonadotrophin deficiency | Isolated gonadotropin deficiency | SNOMEDCT ID:10340008 +BMGC_DS05112,BMG_DS011628,SNOMEDCT ID:16041008 | UMLS ID:C0271578 | Female hypogonadism | Female hypogonadism syndrome (disorder) | Female hypogonadism syndrome +BMGC_DS05113,BMG_DS011631,SNOMEDCT ID:8829008 | Isolated lutropin deficiency | UMLS ID:C0271582 | Fertile eunuch | hypogonadotropic hypogonadism 23 with or without anosmia | MONDO:0009223 | OMIM ID:228300 | Isolated lutropin deficiency (disorder) | Fertile eunuch syndrome +BMGC_DS05114,BMG_DS011632,"UMLS ID:C0271583 | MeSH ID:C562707 | ACTH Deficiency, Isolated" +BMGC_DS05115,BMG_DS011634,"UMLS ID:C0271586 | MONDO:0009911 | prolactin deficiency, isolated | OMIM ID:264110" +BMGC_DS05116,BMG_DS011655,MONDO:0018561 | SNOMEDCT ID:19911007 | UMLS ID:C0271616 | Precocious female puberty | Precocious female puberty (disorder) | precocious puberty in female +BMGC_DS05117,BMG_DS011659,Hypogonadotropic hypogonadism | 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 | UMLS ID:C0271623 | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 17 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 | Gonadotrophin deficiency | hypogonadotropic hypogonadism 6 with or without anosmia | MONDO:0018555 | isolated growth hormone deficiency type IA | Secondary hypogonadism | Hypopituitarism | isolated growth hormone deficiency type III | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | OMIM ID:MTHU004823 | hypogonadotropic hypogonadism 22 with or without anosmia | Hypogonadotropic hypogonadism (disorder) | 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 | SNOMEDCT ID:33927004 | hypogonadotropic hypogonadism 13 with or without anosmia | ICD10 ID:E23.0 | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | ICD11 ID:5A61.0 | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia +BMGC_DS05118,BMG_DS011672,Diabetes mellitus type 2 in obese | UMLS ID:C0271638 | SNOMEDCT ID:81531005 | Diabetes mellitus type 2 in obese (disorder) | Type 2 diabetes mellitus in obese +BMGC_DS05119,BMG_DS011680,DOID:10603 | Chemical diabetes | Latent diabetes | SNOMEDCT ID:9414007 | Impaired glucose tolerance (disorder) | MONDO:0001076 | Prediabetic nonclinical diabetes | glucose intolerance | SNOMEDCT ID:154720005 | Impaired glucose tolerance | IGT - Impaired glucose tolerance | UMLS ID:C0271650 +BMGC_DS05120,BMG_DS011700,Symmetric Diabetic Proximal Motor Neuropathy | MeSH ID:D003929 | Diabetic Neuropathies | UMLS ID:C0271673 +BMGC_DS05121,BMG_DS011701,MeSH ID:D003929 | Diabetic Neuropathies | Asymmetric Diabetic Proximal Motor Neuropathy | UMLS ID:C0271674 +BMGC_DS05122,BMG_DS011703,"Polyradiculopathy | MeSH ID:D011128 | Polyradiculopathy, Abdominal | UMLS ID:C0271676" +BMGC_DS05123,BMG_DS011704,UMLS ID:C0271678 | MeSH ID:D003929 | Diabetic Neuropathies | Diabetic Mononeuropathy +BMGC_DS05124,BMG_DS011706,DOID:12785 | Diabetic Polyneuropathies | MeSH ID:D003929 | UMLS ID:C0271680 | Diabetic Neuropathies | diabetic polyneuropathy | MONDO:0001583 +BMGC_DS05125,BMG_DS011709,"MeSH ID:D011115 | Polyneuropathies | MONDO:0002316 | UMLS ID:C0271683 | motor peripheral neuropathy | Polyneuropathy, Motor" +BMGC_DS05126,BMG_DS011711,MeSH ID:D003929 | Diabetic Amyotrophy | Diabetic Neuropathies | UMLS ID:C0271685 +BMGC_DS05127,BMG_DS011712,DOID:11503 | MeSH ID:D003929 | UMLS ID:C0271686 | Diabetic Autonomic Neuropathy | Diabetic Neuropathies | diabetic autonomic neuropathy | MONDO:0001299 +BMGC_DS05128,BMG_DS011719,Acquired generalized lipodystrophy | Acquired generalised lipodystrophy | UMLS ID:C0271693 | Acquired generalized lipodystrophy (disorder) | Acquired lipodystrophic diabetes | Acquired total lipoatrophy | acquired generalized lipodystrophy | SNOMEDCT ID:86907008 | Lawrence syndrome | MONDO:0019193 +BMGC_DS05129,BMG_DS011720,familial partial lipodystrophy | DOID:0050440 | UMLS ID:C0271694 | Familial partial lipodystrophy | MONDO:0020088 | Familial partial lipodystrophy (disorder) | SNOMEDCT ID:49292002 | Familial lipodystrophy of limbs AND/OR trunk +BMGC_DS05130,BMG_DS011721,Rabson-Mendenhall syndrome | UMLS ID:C0271695 | Donohue Syndrome | Donohue syndrome | MONDO:0009874 | MeSH ID:D056731 | DOID:0050470 | Rabson-Mendenhall Syndrome | OMIM ID:262190 +BMGC_DS05131,BMG_DS011731,Hypoglycemia | UMLS ID:C0271708 | MeSH ID:D007003 | Fasting Hypoglycemia +BMGC_DS05132,BMG_DS011737,"OMIM ID:MTHU041972 | MONDO:0009415 | Hypoglycemia, leucine-induced | MeSH ID:C537150 | OMIM ID:240800 | UMLS ID:C0271714 | hypoglycemia, leucine-induced" +BMGC_DS05133,BMG_DS011759,triple-A syndrome | Triple A syndrome | OMIM ID:231550 | SNOMEDCT ID:45414006 | Glucocorticoid deficiency with achalasia (disorder) | UMLS ID:C0271742 | MONDO:0009279 | Allgrove syndrome | Glucocorticoid deficiency with achalasia | Alacrimia-achalasia-addisonianism | Achalasia-addisonian syndrome +BMGC_DS05134,BMG_DS011773,MONDO:0006833 | DOID:13196 | MeSH ID:D047268 | UMLS ID:C0271760 | lingual goiter | Lingual Goiter +BMGC_DS05135,BMG_DS011793,MONDO:0010139 | OMIM ID:275100 | UMLS ID:C0271789 | isolated thyroid-stimulating hormone deficiency +BMGC_DS05136,BMG_DS011804,Central hypothyroidism (disorder) | OMIM ID:MTHU047873 | SNOMEDCT ID:26692000 | UMLS ID:C0271801 | Central hypothyroidism +BMGC_DS05137,BMG_DS011827,SNOMEDCT ID:70348004 | Pendred's syndrome | Goiter-deafness syndrome | OMIM ID:274600 | Goitre-deafness syndrome | ICD11 ID:5A00.00 | Pendred syndrome | Genetic defect in thyroid hormonogenesis II B | MONDO:0010134 | ICD10 ID:E07.1 | UMLS ID:C0271829 | GDTH IIB | Permanent congenital hypothyroidism with diffuse goitre | DOID:0060744 | Hypothyroidism with sensorineural deafness | Pendred Syndrome | Thyroid hormone organification defect II B | Pendred's syndrome (disorder) +BMGC_DS05138,BMG_DS011831,SNOMEDCT ID:41300001 | X-linked reduction of thyroxine-binding globulin | UMLS ID:C0271836 | X-linked reduction of thyroxine-binding globulin (disorder) +BMGC_DS05139,BMG_DS011841,SNOMEDCT ID:54920000 | familial primary hyperparathyroidism | MONDO:0016365 | SNOMEDCT ID:237653008 | Familial primary hyperparathyroidism (disorder) | Familial hyperparathyroidism (disorder) | primary hyperparathyroidism | Familial hyperparathyroidism | Familial primary hyperparathyroidism | DOID:11202 | UMLS ID:C0271846 +BMGC_DS05140,BMG_DS011842,Secondary hyperparathyroidism of renal origin | SNOMEDCT ID:19034001 | DOID:12465 | UMLS ID:C0271847 | Hyperparathyroidism due to renal insufficiency | MONDO:0001530 | Hyperparathyroidism due to renal insufficiency (disorder) | secondary hyperparathyroidism of renal origin +BMGC_DS05141,BMG_DS011847,Hypercalcemia due to hyperthyroidism | UMLS ID:C0271852 | Hypercalcemia due to hyperthyroidism (disorder) | Hypercalcaemia due to hyperthyroidism | SNOMEDCT ID:2243000 +BMGC_DS05142,BMG_DS011873,UMLS ID:C0271886 | Hypothalamic Diseases | MeSH ID:D007027 | Hypothalamic Pseudopuberty +BMGC_DS05143,BMG_DS011885,SNOMEDCT ID:4984008 | Microcytic normochromic anemia | UMLS ID:C0271902 | Microcytic normochromic anemia (disorder) | Microcytic normochromic anaemia +BMGC_DS05144,BMG_DS011892,UMLS ID:C0271909 | Drug induced aplastic anaemia | SNOMEDCT ID:191245002 | Hypoplastic anaemia 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 anaemia due to drugs | Aplastic anemia due to drugs (disorder) | Drug induced aplastic anemia | Anaemia: [aplastic due to drugs] or [hypoplastic due to drug or chemical substance] | Aplastic anemia due to drugs | SNOMEDCT ID:267527002 | Hypoplastic anemia due to drug or chemical substance +BMGC_DS05145,BMG_DS011914,Anaemia of chronic renal insufficiency | UMLS ID:C0271932 | SNOMEDCT ID:49708008 | Anaemia of chronic renal failure | Anemia of chronic renal failure | Anemia of chronic renal insufficiency | Anemia of chronic renal failure (disorder) +BMGC_DS05146,BMG_DS011915,"MONDO:0020337 | congenital dyserythropoietic anemia type Ib | Congenital dyserythropoietic anemia type I | Congenital dyserythropoietic anaemia, type I | Congenital dyserythropoietic anaemia type I | Congenital dyserythropoietic anemia, type I (disorder) | congenital dyserythropoietic anemia type 1 | Congenital dyserythropoietic anemia, type I | SNOMEDCT ID:59548005 | UMLS ID:C0271933 | DOID:0111397" +BMGC_DS05147,BMG_DS011916,"Congenital dyserythropoietic anemia, type III | Congenital dyserythropoietic anemia type III | Congenital dyserythropoietic anemia, type III (disorder) | Congenital dyserythropoietic anaemia type III | UMLS ID:C0271934 | congenital dyserythropoietic anemia type IIIa | SNOMEDCT ID:26409005 | Congenital dyserythropoietic anaemia, type III | DOID:0111399" +BMGC_DS05148,BMG_DS011950,SNOMEDCT ID:12907000 | Thiamine-responsive megaloblastic anaemia | UMLS ID:C0271972 | Thiamine-responsive megaloblastic anemia (disorder) | Thiamine-responsive megaloblastic anemia +BMGC_DS05149,BMG_DS011955,Thalassemia Intermedia | UMLS ID:C0271979 | beta-Thalassemia | MeSH ID:D017086 +BMGC_DS05150,BMG_DS011956,Beta zero thalassaemia | Beta zero thalassemia | Beta 0 thalassaemia | Beta zero thalassemia (disorder) | beta zero thalassaemia | SNOMEDCT ID:86715000 | beta zero thalassemia | Beta 0 thalassemia | UMLS ID:C0271980 +BMGC_DS05151,BMG_DS011961,Delta-Beta Thalassemia | MeSH ID:C562716 | MONDO:0016489 | delta-beta-thalassemia | UMLS ID:C0271985 +BMGC_DS05152,BMG_DS011966,delta-Thalassemia | MeSH ID:D055538 | UMLS ID:C0271990 +BMGC_DS05153,BMG_DS011967,Delta zero thalassemia | SNOMEDCT ID:62074008 | Delta 0 thalassaemia | Delta 0 thalassemia | Delta zero thalassaemia | Delta zero thalassemia (disorder) | UMLS ID:C0271991 +BMGC_DS05154,BMG_DS011970,Hereditary persistence of fetal haemoglobin thalassaemia | MONDO:0018749 | HPFH (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome | HPFH (hereditary persistence of fetal haemoglobin) beta-thalassaemia syndrome | Hereditary persistence of fetal hemoglobin thalassemia (disorder) | UMLS ID:C0271994 | Hereditary persistence of fetal hemoglobin thalassemia | SNOMEDCT ID:16964007 | Hereditary persistence of foetal haemoglobin thalassaemia | hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome +BMGC_DS05155,BMG_DS011981,Haemoglobin Barts hydrops | Alpha thalassemia major | SNOMEDCT ID:5300004 | Hemoglobin Bart's disease | Alpha thalassaemia major | Haemoglobin Bart hydrops syndrome | UMLS ID:C0272005 | Hemoglobin Bart's hydrops syndrome (disorder) | Hemoglobin Bart hydrops syndrome | Hemoglobin Barts hydrops | Hb Bart's hydrops fetalis | Hemoglobin Bart's hydrops syndrome | Haemoglobin Bart's disease | Haemoglobin Bart's hydrops syndrome | MONDO:0015579 +BMGC_DS05156,BMG_DS012021,dehydrated hereditary stomatocytosis | Xerocytosis (disorder) | SNOMEDCT ID:87994004 | DOID:0111575 | MONDO:0017910 | Dessicocytosis | Xerocytosis | UMLS ID:C0272051 +BMGC_DS05157,BMG_DS012022,MeSH ID:C562717 | DOID:0050641 | Rh deficiency syndrome | OMIM ID:268150 | MONDO:0019107 | Rh Deficiency Syndrome | UMLS ID:C0272052 +BMGC_DS05158,BMG_DS012023,Anaemia due to enzyme deficiency | Anemia due to enzyme deficiency | UMLS ID:C0272053 | SNOMEDCT ID:111577008 | Anemia due to enzyme deficiency (disorder) +BMGC_DS05159,BMG_DS012025,G-6-PD class I variant anaemia | G-6-PD class I variant anemia | Glucose-6-phosphate dehydrogenase deficiency class I variant anemia | Glucose-6-phosphate dehydrogenase deficiency class I variant anaemia | UMLS ID:C0272056 | Glucose-6-phosphate dehydrogenase deficiency class I variant anemia (disorder) | SNOMEDCT ID:22933009 +BMGC_DS05160,BMG_DS012033,Hereditary nonspherocytic haemolytic anaemia due to glucose phosphate isomerase deficiency | HNSHA due to glucose phosphate isomerase deficiency | SNOMEDCT ID:52413004 | Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glucose phosphate isomerase deficiency | Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glucose phosphate isomerase deficiency | Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency | UMLS ID:C0272064 | Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder) +BMGC_DS05161,BMG_DS012035,Glycogen Storage Disease XII | MeSH ID:C562718 | MONDO:0012747 | OMIM ID:611881 | UMLS ID:C0272066 | glycogen storage disease due to aldolase A deficiency +BMGC_DS05162,BMG_DS012038,HNSHA due to diphosphoglycerate mutase deficiency | Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to diphosphoglycerate mutase deficiency | Hereditary nonspherocytic hemolytic anemia (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) | SNOMEDCT ID:62268000 | UMLS ID:C0272069 | Hereditary nonspherocytic haemolytic anaemia due to diphosphoglycerate mutase deficiency +BMGC_DS05163,BMG_DS012048,SNOMEDCT ID:66729008 | Hemoglobin D disease | Haemoglobin D disease | Hemoglobin D disease (disorder) | hemoglobin D disease | MONDO:0019537 | UMLS ID:C0272080 | DOID:5378 | Haemoglobin D-D disease | Hemoglobin D-D disease +BMGC_DS05164,BMG_DS012052,UMLS ID:C0272084 | MONDO:0016670 | sickle cell-hemoglobin d disease syndrome +BMGC_DS05165,BMG_DS012054,MONDO:0018963 | MeSH ID:C580280 | UMLS ID:C0272087 | Congenital Methemoglobinemia | hereditary methemoglobinemia +BMGC_DS05166,BMG_DS012092,ICD10 ID:D69.41 | UMLS ID:C0272126 | SNOMEDCT ID:75331009 | Evans syndrome (disorder) | Evans' syndrome | Evans syndrome | DOID:8931 | MONDO:0016030 +BMGC_DS05167,BMG_DS012103,UMLS ID:C0272137 | Tn polyagglutination syndrome | MONDO:0010381 | MeSH ID:C562719 | OMIM ID:300622 | Tn Syndrome +BMGC_DS05168,BMG_DS012110,UMLS ID:C0272144 | Erythrocytosis due to tissue hypoxaemia | Erythrocytosis due to tissue hypoxemia (disorder) | SNOMEDCT ID:19588001 | Erythrocytosis due to tissue hypoxemia +BMGC_DS05169,BMG_DS012118,Neonatal polycythaemia | MONDO:0001238 | Neonatal polycythemia | UMLS ID:C0272153 | Neonatal polycythemia (disorder) | plethora of newborn | DOID:11242 | Plethora of newborn | Polycythemia neonatorum | polycythemia neonatorum | SNOMEDCT ID:32984002 | Polycythaemia neonatorum +BMGC_DS05170,BMG_DS012129,"Reticular dysgenesis | DOID:0060020 | SNOMEDCT ID:111584000 | MeSH ID:C538361 | MONDO:0009973 | UMLS ID:C0272167 | Generalized hematopoietic hypoplasia | Immunoerythromyeloid hypoplasia | SCID - Severe combined immunodeficiency, neutropaenia and thrombocytopaenia | Generalised haematopoietic hypoplasia | De Vaal disease | Severe combined immunodeficiency, neutropenia and thrombocytopenia | OMIM ID:267500 | SCID - Severe combined immunodeficiency, neutropenia and thrombocytopenia | Severe combined immunodeficiency, neutropaenia and thrombocytopaenia | reticular dysgenesis | Reticular dysgenesis (disorder) | Reticular dysgenesia | Congenital aleukia" +BMGC_DS05171,BMG_DS012132,"SNOMEDCT ID:89454001 | Shwachman's syndrome | Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia | Schwachmann-Diamond syndrome | Shwachman syndrome (disorder) | Metaphyseal dysplasia with malabsorption and neutropenia | Congenital lipomatosis of pancreas | Schwachman's syndrome | Shwachman-Diamond syndrome | MONDO:0009833 | Schwachman-Bodian syndrome | Metaphyseal chondrodysplasia, Shwachman type | Schwachman-Diamond syndrome | Shwachman syndrome | UMLS ID:C0272170" +BMGC_DS05172,BMG_DS012136,"Lazy Leukocyte Syndrome | MONDO:0007883 | OMIM ID:150550 | periodic fever, immunodeficiency, and thrombocytopenia syndrome | UMLS ID:C0272174 | MeSH ID:C562721" +BMGC_DS05173,BMG_DS012138,Isoimmune neonatal neutropenia | Alloimmune neonatal neutropenia (disorder) | SNOMEDCT ID:14333004 | Alloimmune neonatal neutropenia | Neonatal isoimmune neutropenia | neonatal alloimmune neutropenia | MONDO:0018739 | UMLS ID:C0272176 +BMGC_DS05174,BMG_DS012140,Idiosyncratic neutropenia | Drug-induced neutropenia (disorder) | SNOMEDCT ID:47318007 | Drug-induced neutropenia | Drug induced neutropenia | Drug-associated agranulocytosis | UMLS ID:C0272178 +BMGC_DS05175,BMG_DS012147,Leucocyte adhesion deficiency | Congenital leukocyte adherence deficiency | Congenital leucocyte adherence deficiency | Congenital leukocyte adherence deficiency (disorder) | UMLS ID:C0272187 | SNOMEDCT ID:77358003 | leukocyte adhesion deficiency | Leukocyte adhesion deficiency | MONDO:0017570 +BMGC_DS05176,BMG_DS012151,"Familial eosinophilia (disorder) | MeSH ID:C562722 | SNOMEDCT ID:79336007 | MONDO:0007544 | UMLS ID:C0272192 | ICD10 ID:D72.19 | eosinophilia, familial | Familial eosinophilia | OMIM ID:131400" +BMGC_DS05177,BMG_DS012158,"Familial Hemophagocytic Lymphocytosis | MeSH ID:D051359 | MONDO:0015541 | hereditary hemophagocytic lymphohistiocytosis | Lymphohistiocytosis, Hemophagocytic | UMLS ID:C0272199" +BMGC_DS05178,BMG_DS012160,MONDO:0019025 | extracutaneous mastocytoma | DOID:4659 | UMLS ID:C0272202 +BMGC_DS05179,BMG_DS012161,indolent systemic mastocytosis | MONDO:0020331 | UMLS ID:C0272203 | 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 | SNOMEDCT ID:36980009 | Severe combined immunodeficiency due to absent adenosine deaminase (disorder) | SCID (severe combined immunodeficiency) due to absent ADA (adenosine deaminase) +BMGC_DS05181,BMG_DS012189,SNOMEDCT ID:82286005 | Immunodeficiency with IgM hypergammaglobulinemia | Hyperimmunoglobulin M syndrome | Hyper IgM syndrome | DOID:0080544 | UMLS ID:C0272236 | Immunodeficiency with IgM hypergammaglobulinaemia | hyper IgM syndrome | MONDO:0003947 | Hyperimmunoglobulin M syndrome (disorder) | hyper-IgM syndrome +BMGC_DS05182,BMG_DS012190,Immunoglobulin maturational delay | UMLS ID:C0272238 | Transient hypogammaglobulinaemia of infancy | ICD10 ID:D80.7 | THI - Transient hypogammaglobulinemia of infancy | Transient hypogammaglobulinemia of infancy | MONDO:0015698 | SNOMEDCT ID:88714009 | transient hypogammaglobulinemia of infancy | THI - Transient hypogammaglobulinaemia of infancy | ICD11 ID:4A01.03 | Transient hypogammaglobulinemia of infancy (disorder) | DOID:624 +BMGC_DS05183,BMG_DS012193,UMLS ID:C0272242 | Hereditary Complement Deficiency Diseases | complement deficiency | DOID:626 | MeSH ID:D000081208 | Complement Deficiencies | MONDO:0003832 +BMGC_DS05184,BMG_DS012204,MONDO:0002755 | UMLS ID:C0272256 | DOID:3722 | solitary osseous plasmacytoma +BMGC_DS05185,BMG_DS012231,heparin-induced thrombocytopenia | Heparin-induced thrombocytopenia | UMLS ID:C0272285 | Heparin induced thrombocytopenia | MONDO:0018048 | Heparin-induced thrombocytopenia (disorder) | SNOMEDCT ID:73397007 | Heparin induced thrombocytopaenia +BMGC_DS05186,BMG_DS012232,thrombocytopenia due to immune destruction | thrombocytopenia due to platelet alloimmunization | Thrombocytopenia due to platelet alloimmunization | Immune thrombocytopenia | Immune thrombocytopenia (disorder) | MONDO:0002048 | DOID:1587 | UMLS ID:C0272286 | Thrombocytopenia due to immune destruction | SNOMEDCT ID:2897005 | ITP - immune thrombocytopenia +BMGC_DS05187,BMG_DS012237,UMLS ID:C0272293 | Chronic thrombocytopenic purpura | Chronic idiopathic thrombocytopenic purpura (disorder) | Autoimmune thrombocytopenic purpura | Purpura haemorrhagica | Chronic idiopathic thrombocytopenic purpura | Purpura hemorrhagica | Werlhof's disease | SNOMEDCT ID:13172003 +BMGC_DS05188,BMG_DS012245,MONDO:0007686 | Gray Platelet Syndrome | OMIM ID:139090 | DOID:0111049;DOID:0111044 | gray platelet syndrome | UMLS ID:C0272302 | MeSH ID:D055652 | platelet-type bleeding disorder 17 +BMGC_DS05189,BMG_DS012256,Blood clotting factor deficiency disorder | Coagulation factor deficiency syndrome | Coagulation factor deficiency syndrome (disorder) | UMLS ID:C0272315 | Coagulation factor disorder | SNOMEDCT ID:86075001 +BMGC_DS05190,BMG_DS012258,Hereditary hypoprothrombinaemia | prothrombin deficiency | congenital prothrombin deficiency | Hereditary hypoprothrombinemia | DOID:2235 | UMLS ID:C0272317 | MONDO:0013361 | SNOMEDCT ID:33297000 | OMIM ID:613679 | Hereditary factor II deficiency disease | Hereditary factor II deficiency disease (disorder) +BMGC_DS05191,BMG_DS012261,Hereditary hypoproconvertinaemia | MONDO:0009211 | SNOMEDCT ID:40855001 | UMLS ID:C0272320 | Hereditary factor VII deficiency disease | Hereditary hypoproconvertinemia | Hereditary factor VII deficiency syndrome | OMIM ID:227500 | congenital factor VII deficiency | Hereditary factor VII deficiency disease (disorder) +BMGC_DS05192,BMG_DS012263,Severe haemophilia A | Severe hereditary factor VIII deficiency disease (disorder) | SNOMEDCT ID:16872008 | Severe hereditary factor VIII deficiency disease | UMLS ID:C0272322 | severe hemophilia A | MONDO:0015719 | Severe hemophilia A +BMGC_DS05193,BMG_DS012264,Moderate hemophilia A | MONDO:0015720 | Moderate haemophilia A | Moderate hereditary factor VIII deficiency disease (disorder) | Moderate hereditary factor VIII deficiency disease | SNOMEDCT ID:33344008 | UMLS ID:C0272323 | moderately severe hemophilia A +BMGC_DS05194,BMG_DS012265,Mild hereditary factor VIII deficiency disease | Mild haemophilia A | mild hemophilia A | MONDO:0015721 | Mild hereditary factor VIII deficiency disease (disorder) | SNOMEDCT ID:26029002 | UMLS ID:C0272324 | Mild hemophilia A +BMGC_DS05195,BMG_DS012266,"UMLS ID:C0272325 | acquired hemophilia A | MeSH ID:C536392 | Factor 8 deficiency, acquired | MONDO:0035735" +BMGC_DS05196,BMG_DS012267,Hereditary factor X deficiency disease | SNOMEDCT ID:37350004 | MONDO:0009212 | Hereditary factor X deficiency disease (disorder) | congenital factor X deficiency | Hereditary Stuart-Prower deficiency disease | OMIM ID:227600 | Hereditary Stuart factor deficiency disease | UMLS ID:C0272327 +BMGC_DS05197,BMG_DS012276,OMIM ID:MTHU050385 | Fletcher trait | UMLS ID:C0272339 | prekallikrein deficiency | Fletcher factor deficiency | Prekallikrein deficiency (disorder) | SNOMEDCT ID:48976006 | MONDO:0044744 | Prekallikrein deficiency +BMGC_DS05198,BMG_DS012277,MeSH ID:C537060 | OMIM ID:228960 | High molecular weight kininogen deficiency (disorder) | Fitzgerald factor deficiency | congenital high-molecular-weight kininogen deficiency | high molecular weight kininogen deficiency | High molecular weight kininogen deficiency | SNOMEDCT ID:27312002 | UMLS ID:C0272340 | MONDO:0009234 | Fitzgerald-Flaujeac-Williams-Reid trait | DOID:0111676 +BMGC_DS05199,BMG_DS012286,"UMLS ID:C0272350 | MONDO:0014452 | OMIM ID:616004 | familial dysfibrinogenemia | Dysfibrinogenemia, Congenital | MeSH ID:C562727" +BMGC_DS05200,BMG_DS012294,Acquired von Willebrand disease (disorder) | SNOMEDCT ID:60078000 | MONDO:0020460 | acquired von willebrand syndrome | acquired von Willebrand syndrome | DOID:0111146 | ICD10 ID:D68.04 | Acquired von Willebrand syndrome | Acquired von Willebrand disease | UMLS ID:C0272362 | Acquired von Willebrand syndrome (disorder) | Acquired von Willebrand's disease | SNOMEDCT ID:234451005 +BMGC_DS05201,BMG_DS012303,Drug-induced coagulation inhibitor disorder (disorder) | Drug-induced coagulation inhibitor disorder | SNOMEDCT ID:16773005 | UMLS ID:C0272373 +BMGC_DS05202,BMG_DS012305,antithrombin III deficiency | DOID:3755 | hereditary antithrombin deficiency | MeSH ID:D020152 | OMIM ID:613118 | Antithrombin III Deficiency | MONDO:0013144 | UMLS ID:C0272375 +BMGC_DS05203,BMG_DS012318,UMLS ID:C0272394 | lymph node disease | Disorder of lymph node (disorder) | DOID:9942 | MONDO:0004928 | SNOMEDCT ID:76616003 | Disorder of lymph node | lymph node disorder +BMGC_DS05204,BMG_DS012329,SNOMEDCT ID:43325004 | Spontaneous rupture of spleen | Nontraumatic splenic rupture (disorder) | Nontraumatic splenic rupture | Non-traumatic rupture of spleen | UMLS ID:C0272409 +BMGC_DS05205,BMG_DS012332,SNOMEDCT ID:82053000 | MONDO:0002333 | Splenic abscess (disorder) | Splenic abscess | splenic abscess | DOID:2530 | UMLS ID:C0272412 | Spleen abscess | Abscess of spleen +BMGC_DS05206,BMG_DS012428,UMLS ID:C0275518 | Acute infectious disease (disorder) | Acute infection | SNOMEDCT ID:63171007 | Acute infectious disease +BMGC_DS05207,BMG_DS012449,SNOMEDCT ID:31860008 | Acute bacterial peritonitis (disorder) | Acute bacterial peritonitis | UMLS ID:C0275550 +BMGC_DS05208,BMG_DS012454,SNOMEDCT ID:21060003 | UMLS ID:C0275555 | Acute bacterial epiglottitis | Acute bacterial epiglottitis (disorder) +BMGC_DS05209,BMG_DS012455,Acute bacterial sinusitis (disorder) | UMLS ID:C0275556 | Acute bacterial sinusitis | SNOMEDCT ID:75498004 +BMGC_DS05210,BMG_DS012458,Thoracic actinomycosis | ICD11 ID:1C10.0 | Pulmonary actinomycosis (disorder) | UMLS ID:C0275566 | ICD10 ID:A42.0 | Pulmonary actinomycosis | SNOMEDCT ID:21846001 +BMGC_DS05211,BMG_DS012468,MeSH ID:D009617 | Nocardia Infections | UMLS ID:C0275578 | Nocardia asteroides Infection +BMGC_DS05212,BMG_DS012471,UMLS ID:C0275583 | Nocardia Infections | MeSH ID:D009617 | Pulmonary Nocardiosis +BMGC_DS05213,BMG_DS012522,UMLS ID:C0275652 | SNOMEDCT ID:29864006 | Acute gonococcal urethritis | Acute inflammation of urethra caused by Neisseria gonorrhoeae | Acute inflammation of urethra caused by Neisseria gonorrhoeae (disorder) +BMGC_DS05214,BMG_DS012524,MONDO:0001837 | Acute gonococcal salpingitis (disorder) | SNOMEDCT ID:45377007 | acute gonococcal salpingitis | Acute gonococcal salpingitis | DOID:13942 | UMLS ID:C0275654 +BMGC_DS05215,BMG_DS012532,Rectal gonorrhoea | Rectal gonorrhea | Infection of rectum caused by Neisseria gonorrhoeae | SNOMEDCT ID:42746002 | Gonorrhea of rectum | Infection of rectum caused by Neisseria gonorrhoeae (disorder) | UMLS ID:C0275665 | Gonorrhoea of rectum +BMGC_DS05216,BMG_DS012598,Bordetella parapertussis infection | UMLS ID:C0275742 | MONDO:0001353 | Bordetella parapertussis whooping cough | SNOMEDCT ID:77116006 | Bordetella parapertussis infectious disease | Infection caused by Bordetella parapertussis | Infection caused by Bordetella parapertussis (disorder) | DOID:11750 | Infection due to Bordetella parapertussis (disorder) +BMGC_DS05217,BMG_DS012611,Pneumococcal pharyngitis | Pneumococcal pharyngitis (disorder) | SNOMEDCT ID:76651006 | UMLS ID:C0275761 +BMGC_DS05218,BMG_DS012627,SNOMEDCT ID:77863005 | UMLS ID:C0275778 | Lyme carditis | Lyme carditis (disorder) +BMGC_DS05219,BMG_DS012637,Staphylococcal tonsillitis | UMLS ID:C0275793 | Staphylococcal tonsillitis (disorder) | SNOMEDCT ID:11461005 +BMGC_DS05220,BMG_DS012638,Staphylococcal pharyngitis (disorder) | Staphylococcal pharyngitis | UMLS ID:C0275794 | SNOMEDCT ID:82228008 +BMGC_DS05221,BMG_DS012647,ICD10 ID:J03.0 | Streptococcal tonsillitis (disorder) | SNOMEDCT ID:41582007 | ICD11 ID:CA03.0 | Streptococcal tonsillitis | UMLS ID:C0275804 +BMGC_DS05222,BMG_DS012682,"latent early syphilis | MONDO:0040922 | 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 | UMLS ID:C0275842 | SNOMEDCT ID:31137003" +BMGC_DS05223,BMG_DS012784,UMLS ID:C0275959 | Acute tuberculosis | SNOMEDCT ID:25629007 | Acute tuberculosis (disorder) +BMGC_DS05224,BMG_DS012800,Infection caused by Campylobacter fetus (disorder) | Infection by Campylobacter fetus | Campylobacter fetus infectious disease | Infection caused by Vibrio fetus | SNOMEDCT ID:111835002 | Infection caused by Campylobacter fetus | UMLS ID:C0275979 | MONDO:0040728 | Infection by Vibrio fetus +BMGC_DS05225,BMG_DS012803,Enteric campylobacteriosis | Campylobacter diarrhoea | Campylobacter diarrhea | SNOMEDCT ID:18081009 | Enteric campylobacteriosis (disorder) | UMLS ID:C0275982 | Campylobacter intestinal infection +BMGC_DS05226,BMG_DS012809,Initial lesion of yaws | Primary framboesia | Mother yaw | Chancre of yaws | Primary frambesia | Initial framboesia | Primary stage of yaws | Initial frambesia | SNOMEDCT ID:49442000 | DOID:10568 | Yaws chancre | early yaws | Initial yaws lesion | Initial lesion of yaws (disorder) | UMLS ID:C0275990 +BMGC_DS05227,BMG_DS012813,Early yaws | SNOMEDCT ID:23191004 | DOID:10568 | MONDO:0001067 | early yaws | Early yaws (disorder) | UMLS ID:C0275998 +BMGC_DS05228,BMG_DS012819,Yaws gummata and ulcers | late yaws | SNOMEDCT ID:186968004 | UMLS ID:C0276007 | Yaws gummata and ulcers (disorder) | DOID:10567 +BMGC_DS05229,BMG_DS012836,Haemophilus influenzae pneumonia (disorder) | UMLS ID:C0276026 | Haemophilus influenzae pneumonia | SNOMEDCT ID:70036007 +BMGC_DS05230,BMG_DS012837,SNOMEDCT ID:19021002 | Haemophilus influenzae otitis media (disorder) | Haemophilus influenzae otitis media | UMLS ID:C0276027 +BMGC_DS05231,BMG_DS012867,Sepsis caused by Bacteroides (disorder) | Septicemia caused by Bacteroides | Septicaemia caused by Bacteroides | UMLS ID:C0276064 | SNOMEDCT ID:1201760007 | Sepsis caused by Bacteroides +BMGC_DS05232,BMG_DS012873,Infection caused by Pseudomonas aeruginosa | SNOMEDCT ID:11218009 | Pseudomonas aeruginosa infectious disease | UMLS ID:C0276075 | MONDO:0040732 | Infection caused by Pseudomonas aeruginosa (disorder) +BMGC_DS05233,BMG_DS012875,Malignant otitis media (disorder) | Otitis media due to Pseudomonas aeruginosa | SNOMEDCT ID:16664009 | Malignant otitis media | UMLS ID:C0276077 +BMGC_DS05234,BMG_DS012881,Ecthyma gangrenosum | Ecthyma gangrenosum (disorder) | UMLS ID:C0276085 | OMIM ID:MTHU076646 | SNOMEDCT ID:17732003 +BMGC_DS05235,BMG_DS012883,Septicaemia due to E. Coli | Septicaemic colibacillosis | Septicemia due to Escherichia coli | UMLS ID:C0276088 | E. coli septicemia | Septicemia due to E. Coli | Septicemia due to Escherichia coli (disorder) | Escherichia coli septicaemia | Septicemic colibacillosis | E. coli septicaemia | SNOMEDCT ID:9323009 | Septicaemia due to Escherichia coli | Escherichia coli septicemia +BMGC_DS05236,BMG_DS012884,Pneumonia caused by E. coli | Escherichia coli pneumonia | SNOMEDCT ID:51530003 | Pneumonia caused by Escherichia coli | UMLS ID:C0276089 | Pneumonia caused by Escherichia coli (disorder) +BMGC_DS05237,BMG_DS012923,MONDO:0023161 | Viral myocarditis | SNOMEDCT ID:89141000 | Viral myocarditis (disorder) | ICD10 ID:B33.22 | viral myocarditis | UMLS ID:C0276138 +BMGC_DS05238,BMG_DS012960,SNOMEDCT ID:359814004 | Mpox | monkeypox | mpox | Monkey pox | SNOMEDCT ID:240466002 | MONDO:0002594 | Monkeypox | UMLS ID:C0276180 | SNOMEDCT ID:186582008 | Monkeypox (disorder) | DOID:3292 | SNOMEDCT ID:25157001 +BMGC_DS05239,BMG_DS012997,UMLS ID:C0276223 | SNOMEDCT ID:37323009 | Recurrent herpes simplex | Recurrent herpes simplex (disorder) +BMGC_DS05240,BMG_DS013000,Herpes encephalitis (disorder) | Encephalitis caused by Herpesvirus (disorder) | MONDO:0012521 | SNOMEDCT ID:79450003 | SNOMEDCT ID:428638009 | Herpes encephalitis | Herpetic encephalitis | Herpetic meningoencephalitis | Encephalitis caused by Herpesvirus | UMLS ID:C0276226 | HSE - Herpes simplex encephalitis | OMIM ID:MTHU061461 | Encephalitis caused by Herpesviridae | herpes simplex encephalitis | Herpes simplex encephalitis +BMGC_DS05241,BMG_DS013002,UMLS ID:C0276228 | SNOMEDCT ID:72321008 | Herpes simplex keratoconjunctivitis (disorder) | Herpes simplex keratoconjunctivitis | HSV keratoconjunctivitis +BMGC_DS05242,BMG_DS013030,Verruca plana | UMLS ID:C0276262 | SNOMEDCT ID:1296946004 | ICD10 ID:B07.8 | SNOMEDCT ID:123156006 | Plane wart (disorder) | Flat wart | Verruca plana (disorder) | SNOMEDCT ID:240539000 | Verruca plana (morphologic abnormality) | SNOMEDCT ID:81652008 | Plane wart +BMGC_DS05243,BMG_DS013052,UMLS ID:C0276289 | Zika fever | MONDO:0018661 | DOID:0060478 | Zika virus infectious disease | Zika Virus Infection | MeSH ID:D000071243 +BMGC_DS05244,BMG_DS013106,"SNOMEDCT ID:24662006 | Influenza caused by Influenza B virus | Influenza caused by Influenza B virus (disorder) | Influenza due to Influenza virus, type B | UMLS ID:C0276353" +BMGC_DS05245,BMG_DS013213,familial Alzheimer disease | UMLS ID:C0276496 | MONDO:0100087 +BMGC_DS05246,BMG_DS013215,UMLS ID:C0276500 | Human immunodeficiency virus 1 infection | Human immunodeficiency virus I infection (disorder) | Human immunodeficiency virus I infection | SNOMEDCT ID:40780007 +BMGC_DS05247,BMG_DS013266,Nutritional deficiency with acquired immunodeficiency syndrome (disorder) | SNOMEDCT ID:420691000 | Nutritional deficiency with AIDS (acquired immunodeficiency syndrome) | Nutritional deficiency with acquired immunodeficiency syndrome | UMLS ID:C0276587 +BMGC_DS05248,BMG_DS013285,"ICD11 ID:1E51.0Z | UMLS ID:C0276610 | Chronic viral hepatitis B without delta-agent | Chronic viral hepatitis B without delta-agent (disorder) | SNOMEDCT ID:186639003 | ICD10 ID:B18.1 | Chronic hepatitis B, unspecified" +BMGC_DS05249,BMG_DS013317,Mycotic endocarditis (disorder) | mycotic endocarditis | UMLS ID:C0276648 | SNOMEDCT ID:86348002 | Mycotic endocarditis | MONDO:0042433 | Fungal endocarditis +BMGC_DS05250,BMG_DS013322,UMLS ID:C0276653 | Invasive Pulmonary Aspergillosis | MeSH ID:D055744 +BMGC_DS05251,BMG_DS013333,Disseminated coccidioidomycosis | Disseminated coccidioidomycosis (disorder) | SNOMEDCT ID:85055004 | ICD10 ID:B38.7 | ICD11 ID:1F25.10 | UMLS ID:C0276667 | SNOMEDCT ID:187031007 | Extra-pulmonary coccidioidomycosis +BMGC_DS05252,BMG_DS013345,Neonatal monilia | neonatal candidiasis | Neonatal candidiasis | Neonatal monilia infection (disorder) | Neonatal candida infection | UMLS ID:C0276682 | Neonatal monilia infection | Neonatal thrush | Neonatal moniliasis | ICD11 ID:KA63.2 | SNOMEDCT ID:414821002 | DOID:9577 | SNOMEDCT ID:3973009 | Neonatal candidosis | Neonatal candidiasis (disorder) | MONDO:0004824 | ICD10 ID:P37.5 +BMGC_DS05253,BMG_DS013349,Pulmonary cryptococcosis | SNOMEDCT ID:20953001 | ICD10 ID:B45.0 | Pulmonary cryptococcosis (disorder) | ICD11 ID:1F27.0 | UMLS ID:C0276688 +BMGC_DS05254,BMG_DS013384,SNOMEDCT ID:91051003 | ICD11 ID:1F2J.3 | disseminated sporotrichosis | MONDO:0042484 | UMLS ID:C0276725 | ICD10 ID:B42.7 | Disseminated sporotrichosis | Disseminated sporotrichosis (disorder) +BMGC_DS05255,BMG_DS013386,UMLS ID:C0276727 | SNOMEDCT ID:87603003 | ICD11 ID:1F2J.0 | Lymphocutaneous sporotrichosis | ICD10 ID:B42.1 | Lymphocutaneous sporotrichosis (disorder) +BMGC_DS05256,BMG_DS013401,Tinea kerion (disorder) | Suppurative ringworm | Kerion | OMIM ID:275240 | Tinea kerion | Kerion celsi | SNOMEDCT ID:19087001 | MONDO:0010146 | Suppurative dermatophytosis | UMLS ID:C0276742 +BMGC_DS05257,BMG_DS013413,UMLS ID:C0276754 | Onychomycosis caused by Trichophyton rubrum (disorder) | Onychomycosis caused by Trichophyton rubrum | SNOMEDCT ID:56922006 +BMGC_DS05258,BMG_DS013414,UMLS ID:C0276755 | SNOMEDCT ID:23549005 | Onychomycosis caused by Trichophyton mentagrophytes (disorder) | Onychomycosis caused by Trichophyton mentagrophytes +BMGC_DS05259,BMG_DS013417,Fusariosis | fusariosis | UMLS ID:C0276758 | DOID:0050289 | MONDO:0016426 | MeSH ID:D060585 +BMGC_DS05260,BMG_DS013471,UMLS ID:C0276824 | Meningoencephalitis caused by Naegleria | Meningoencephalitis caused by Naegleria (disorder) | SNOMEDCT ID:52281009 +BMGC_DS05261,BMG_DS013556,urinary schistosomiasis | Schistosoma haematobium infection | DOID:1394 | Schistosoma hematobium infection | UMLS ID:C0276926 | SNOMEDCT ID:60979006 | Vesical schistosomiasis | Schistosomiasis of bladder | Schistosoma haematobium infection (disorder) | Bladder schistosomiasis +BMGC_DS05262,BMG_DS013562,Infection by Schistosoma intercalatum | SNOMEDCT ID:52179003 | Infection caused by Schistosoma intercalatum | UMLS ID:C0276932 | Schistosoma intercalatum infectious disease | Infection caused by Schistosoma intercalatum (disorder) | DOID:0050597 | MONDO:0044351 | intestinal schistosomiasis +BMGC_DS05263,BMG_DS013625,UMLS ID:C0277004 | Opisthorchis felineus Infection | Opisthorchiasis | MeSH ID:D009889 +BMGC_DS05264,BMG_DS013626,MeSH ID:D009889 | Opisthorchiasis | Opisthorchis viverrini Infection | UMLS ID:C0277005 +BMGC_DS05265,BMG_DS013736,MeSH ID:C536369 | Infection caused by Angiostrongylus cantonensis | SNOMEDCT ID:35033008 | Infection by Angiostrongylus cantonensis | DOID:0050256 | Infection caused by Angiostrongylus cantonensis (disorder) | UMLS ID:C0277131 | angiostrongyliasis | Angiostrongylus cantonensis infection +BMGC_DS05266,BMG_DS013753,Infection caused by Baylisascaris | Infection by Baylisascaris | UMLS ID:C0277150 | SNOMEDCT ID:91156005 | MONDO:0000297 | baylisascariasis | Infection caused by Baylisascaris (disorder) +BMGC_DS05267,BMG_DS013922,SNOMEDCT ID:2341000 | UMLS ID:C0277334 | Infection by Moniliformis | Moniliformiosis | Infection caused by Moniliformis | Infection caused by Moniliformis (disorder) +BMGC_DS05268,BMG_DS013942,UMLS ID:C0277355 | Flea Infestations | Flea Infestation | MeSH ID:D058267 +BMGC_DS05269,BMG_DS014094,Infective colitis | Septic colitis | Infectious colitis (disorder) | infectious colitis | MONDO:0006039 | SNOMEDCT ID:39341005 | Infectious colitis | UMLS ID:C0277524 +BMGC_DS05270,BMG_DS014095,UMLS ID:C0277525 | Septic gastroenteritis | SNOMEDCT ID:186157003 | SNOMEDCT ID:12463005 | Infectious gastroenteritis | Gastric flu | Infectious gastroenteritis (disorder) +BMGC_DS05271,BMG_DS014098,UMLS ID:C0277528 | Traveler's diarrhoea | Traveler's diarrhea | Turista | Traveler's diarrhea (disorder) | SNOMEDCT ID:11840006 +BMGC_DS05272,BMG_DS014143,"alternating hemiplegia | Hemiplegia | UMLS ID:C0278110 | Hemiplegia, Crossed | MeSH ID:D006429 | MONDO:0016210" +BMGC_DS05273,BMG_DS014153,UMLS ID:C0278151 | facial spasm | OMIM ID:134300 | MONDO:0007593 +BMGC_DS05274,BMG_DS014164,"UMLS ID:C0278193 | MeSH ID:D020195 | reading seizures | Reflex Epilepsy, Reading | MONDO:0007560 | Epilepsy, Reflex | OMIM ID:132300" +BMGC_DS05275,BMG_DS014168,"Epilepsy, Reflex | MeSH ID:D020195 | Reflex Epilepsy, Musicogenic | UMLS ID:C0278198" +BMGC_DS05276,BMG_DS014176,childhood medulloblastoma | DOID:3869 | UMLS ID:C0278510 | MONDO:0002797 +BMGC_DS05277,BMG_DS014177,MONDO:0002620 | DOID:3356 | localized osteosarcoma | UMLS ID:C0278511 +BMGC_DS05278,BMG_DS014178,childhood cerebellar astrocytic neoplasm | UMLS ID:C0278594 | DOID:6286 | MONDO:0003842 +BMGC_DS05279,BMG_DS014179,adult fibrosarcoma | MONDO:0002676 | DOID:3516 | UMLS ID:C0278595 +BMGC_DS05280,BMG_DS014180,UMLS ID:C0278599 | childhood infratentorial ependymoma | pediatric infratentorial ependymoma | MONDO:0004248 | DOID:7501 +BMGC_DS05281,BMG_DS014181,childhood brain stem glioma | DOID:6383 | UMLS ID:C0278600 | MONDO:0003869 +BMGC_DS05282,BMG_DS014182,MONDO:0006804 | DOID:6263 | inflammatory breast carcinoma | UMLS ID:C0278601 +BMGC_DS05283,BMG_DS014183,DOID:5693 | MONDO:0003585 | adult liposarcoma | UMLS ID:C0278608 +BMGC_DS05284,BMG_DS014184,DOID:3720 | UMLS ID:C0278619 | extramedullary plasmacytoma | MONDO:0002754 +BMGC_DS05285,BMG_DS014185,UMLS ID:C0278620 | DOID:9544 | refractory plasma cell neoplasm | MONDO:0004816 +BMGC_DS05286,BMG_DS014186,adult malignant schwannoma | UMLS ID:C0278622 | DOID:8369 | MONDO:0004545 +BMGC_DS05287,BMG_DS014187,MONDO:0004249 | pediatric supratentorial ependymoma | DOID:7502 | UMLS ID:C0278650 | childhood supratentorial ependymoma +BMGC_DS05288,BMG_DS014188,UMLS ID:C0278653 | childhood optic nerve glioma | DOID:6576 | MONDO:0003932 +BMGC_DS05289,BMG_DS014189,UMLS ID:C0278701 | DOID:3717 | MONDO:0005036 | gastric adenocarcinoma +BMGC_DS05290,BMG_DS014191,intraocular retinoblastoma | UMLS ID:C0278717 | MONDO:0003077 | DOID:4653 +BMGC_DS05291,BMG_DS014192,UMLS ID:C0278719 | DOID:4656 | MONDO:0003078 | extraocular retinoblastoma +BMGC_DS05292,BMG_DS014193,DOID:1790 | UMLS ID:C0278752 | malignant mesothelioma +BMGC_DS05293,BMG_DS014194,MONDO:0003750 | DOID:6052 | central nervous system childhood germ cell tumor | childhood central nervous system germ cell tumor | UMLS ID:C0278754 +BMGC_DS05294,BMG_DS014195,gestational trophoblastic neoplasm | DOID:3590 | UMLS ID:C0278796 +BMGC_DS05295,BMG_DS014196,MONDO:0003198 | UMLS ID:C0278803 | small intestine adenocarcinoma | DOID:4906 +BMGC_DS05296,BMG_DS014197,duodenum adenocarcinoma | UMLS ID:C0278804 | duodenal adenocarcinoma | MONDO:0006186 | DOID:10816 +BMGC_DS05297,BMG_DS014198,MONDO:0001852 | small intestine lymphoma | DOID:13996 | UMLS ID:C0278805 +BMGC_DS05298,BMG_DS014199,UMLS ID:C0278806 | DOID:3121 | gallbladder cancer +BMGC_DS05299,BMG_DS014200,invasive malignant thymoma | MONDO:0002592 | DOID:3283 | UMLS ID:C0278846 +BMGC_DS05300,BMG_DS014201,MONDO:0004147 | DOID:7214 | noninvasive malignant thymoma | UMLS ID:C0278847 +BMGC_DS05301,BMG_DS014204,DOID:5716 | MONDO:0006238 | growth hormone-producing pituitary gland adenoma | hormone producing pituitary cancer | UMLS ID:C0278864 +BMGC_DS05302,BMG_DS014205,small size posterior uveal melanoma | UMLS ID:C0278867 | posterior uveal melanoma | DOID:6566 | MONDO:0024863 +BMGC_DS05303,BMG_DS014206,UMLS ID:C0278868 | posterior uveal melanoma | medium/large size posterior uveal melanoma | DOID:6566 | MONDO:0024864 +BMGC_DS05304,BMG_DS014208,adult brainstem glioma | adult brain stem glioma | UMLS ID:C0278873 | MONDO:0003153 | DOID:4813 +BMGC_DS05305,BMG_DS014209,MONDO:0002794 | adult medulloblastoma | DOID:3864 | UMLS ID:C0278876 +BMGC_DS05306,BMG_DS014210,DOID:3068 | glioblastoma | UMLS ID:C0278878 | MONDO:0020690 | adult glioblastoma +BMGC_DS05307,BMG_DS014211,MONDO:0005191 | UMLS ID:C0278883 | metastatic melanoma +BMGC_DS05308,BMG_DS014212,UMLS ID:C0278985 | adult extraskeletal osteosarcoma | DOID:7827 | adult extraosseous osteosarcoma | MONDO:0004374 +BMGC_DS05309,BMG_DS014213,MONDO:0005627 | head and neck cancer | UMLS ID:C0278996 +BMGC_DS05310,BMG_DS014214,carcinoma of liver and intrahepatic biliary tract | liver carcinoma | UMLS ID:C0279000 | DOID:686 | MONDO:0018531 +BMGC_DS05311,BMG_DS014215,childhood germ cell tumor | childhood germ cell cancer | DOID:6053 | MONDO:0003751 | UMLS ID:C0279014 +BMGC_DS05312,BMG_DS014216,MONDO:0859747 | UMLS ID:C0279065 | DOID:0081308 | grade I lymphomatoid granulomatosis +BMGC_DS05313,BMG_DS014218,MONDO:0002543 | UMLS ID:C0279070 | adult oligodendroglioma | DOID:3186 +BMGC_DS05314,BMG_DS014220,DOID:6898 | MONDO:0004032 | ovarian seromucinous carcinoma | UMLS ID:C0279392 +BMGC_DS05315,BMG_DS014222,"OMIM ID:608232 | UMLS ID:C0279543 | MONDO:0011996 | chronic myelogenous leukemia, BCR-ABL1 positive" +BMGC_DS05316,BMG_DS014223,alveolar soft part sarcoma | DOID:4239 | UMLS ID:C0279544 +BMGC_DS05317,BMG_DS014224,DOID:8282 | MONDO:0004521 | adult epithelioid sarcoma | UMLS ID:C0279545 +BMGC_DS05318,BMG_DS014225,MONDO:0003856 | DOID:6332 | UMLS ID:C0279547 | adult malignant hemangiopericytoma +BMGC_DS05319,BMG_DS014226,DOID:5894 | UMLS ID:C0279548 | adult malignant mesenchymoma | MONDO:0003692 +BMGC_DS05320,BMG_DS014227,MONDO:0004973 | DOID:4829 | UMLS ID:C0279557 | adenosquamous lung carcinoma +BMGC_DS05321,BMG_DS014229,MONDO:0005051 | UMLS ID:C0279565 | invasive lobular breast carcinoma +BMGC_DS05322,BMG_DS014232,DOID:5602 | MONDO:0003539 | T-cell adult acute lymphocytic leukemia | UMLS ID:C0279592 +BMGC_DS05323,BMG_DS014234,DOID:7603 | UMLS ID:C0279602 | fibrosarcomatous osteosarcoma | MONDO:0004301 +BMGC_DS05324,BMG_DS014235,MONDO:0002627 | chondroblastic osteosarcoma | UMLS ID:C0279603 | DOID:3372 +BMGC_DS05325,BMG_DS014236,pediatric hepatocellular carcinoma | MONDO:0018055 | UMLS ID:C0279606 +BMGC_DS05326,BMG_DS014237,DOID:0070328 | UMLS ID:C0279607 | MONDO:0016216 | adult hepatocellular carcinoma +BMGC_DS05327,BMG_DS014238,MONDO:0003322 | DOID:5189 | UMLS ID:C0279608 | epithelial predominant Wilms' tumor +BMGC_DS05328,BMG_DS014239,blastema predominant kidney Wilms tumor | blastema predominant kidney Wilms' tumor | UMLS ID:C0279609 | DOID:5182 | MONDO:0003320 +BMGC_DS05329,BMG_DS014240,MONDO:0006432 | stromal predominant kidney Wilms' tumor | stromal predominant kidney Wilms tumor | DOID:5191 | UMLS ID:C0279610 +BMGC_DS05330,BMG_DS014241,MONDO:0003318 | UMLS ID:C0279611 | DOID:5179 | mixed cell type kidney Wilms' tumor +BMGC_DS05331,BMG_DS014242,alveolar rhabdomyosarcoma | UMLS ID:C0279613 | DOID:4051 +BMGC_DS05332,BMG_DS014243,MONDO:0004233 | childhood pleomorphic rhabdomyosarcoma | DOID:7463 | UMLS ID:C0279614 +BMGC_DS05333,BMG_DS014244,UMLS ID:C0279622 | small cell osteogenic sarcoma | MONDO:0002630 | DOID:3377 +BMGC_DS05334,BMG_DS014245,UMLS ID:C0279626 | DOID:3748 | MONDO:0005580 | esophagus squamous cell carcinoma | esophageal squamous cell carcinoma +BMGC_DS05335,BMG_DS014246,esophageal adenocarcinoma | UMLS ID:C0279628 | MONDO:0005028 | DOID:4914 | esophagus adenocarcinoma +BMGC_DS05336,BMG_DS014248,MONDO:0005017 | UMLS ID:C0279635 | diffuse gastric adenocarcinoma | gastric diffuse adenocarcinoma | DOID:6217 +BMGC_DS05337,BMG_DS014249,DOID:4908 | MONDO:0003199 | UMLS ID:C0279637 | anal carcinoma +BMGC_DS05338,BMG_DS014250,UMLS ID:C0279639 | DOID:3029 | colon mucinous adenocarcinoma | MONDO:0005007 +BMGC_DS05339,BMG_DS014252,DOID:3500 | MONDO:0006215 | UMLS ID:C0279651 | gallbladder adenocarcinoma +BMGC_DS05340,BMG_DS014253,MONDO:0002748 | UMLS ID:C0279652 | rectum mucinous adenocarcinoma | DOID:3709 +BMGC_DS05341,BMG_DS014255,DOID:7707 | MONDO:0004336 | rectal signet ring cell adenocarcinoma | rectum signet ring adenocarcinoma | UMLS ID:C0279654 +BMGC_DS05342,BMG_DS014256,DOID:5535 | UMLS ID:C0279658 | gallbladder squamous cell carcinoma | MONDO:0006220 +BMGC_DS05343,BMG_DS014257,DOID:3495 | UMLS ID:C0279659 | MONDO:0002665 | extrahepatic bile duct adenocarcinoma +BMGC_DS05344,BMG_DS014258,MONDO:0006346 | UMLS ID:C0279661 | pancreatic acinar cell carcinoma | pancreatic acinar cell adenocarcinoma | DOID:5742 +BMGC_DS05345,BMG_DS014259,ovarian serous cystadenocarcinoma | MONDO:0006046 | UMLS ID:C0279663 | DOID:5746 +BMGC_DS05346,BMG_DS014260,DOID:3604 | MONDO:0002701 | UMLS ID:C0279665 | ovarian mucinous cystadenocarcinoma +BMGC_DS05347,BMG_DS014261,UMLS ID:C0279667 | DOID:7438 | ovarian clear cell cystadenocarcinoma | MONDO:0004222 +BMGC_DS05348,BMG_DS014263,UMLS ID:C0279671 | MONDO:0006143 | DOID:3744 | cervical squamous cell carcinoma +BMGC_DS05349,BMG_DS014264,MONDO:0005153 | DOID:3702 | cervical adenocarcinoma | UMLS ID:C0279672 +BMGC_DS05350,BMG_DS014265,MONDO:0006142 | cervical small cell carcinoma | cervix small cell carcinoma | DOID:6740 | UMLS ID:C0279674 +BMGC_DS05351,BMG_DS014266,bladder transitional cell carcinoma | DOID:4006 | UMLS ID:C0279680 | MONDO:0005611 | bladder urothelial carcinoma +BMGC_DS05352,BMG_DS014267,bladder squamous cell carcinoma | UMLS ID:C0279681 | DOID:3742 | MONDO:0002760 +BMGC_DS05353,BMG_DS014268,bladder adenocarcinoma | MONDO:0002751 | DOID:3711 | UMLS ID:C0279682 +BMGC_DS05354,BMG_DS014270,MONDO:0004062 | intermediate cell type uveal melanoma | UMLS ID:C0279693 | intraocular mixed cell type melanoma | DOID:6992 +BMGC_DS05355,BMG_DS014271,necrotic uveal melanoma | MONDO:0004365 | UMLS ID:C0279695 | DOID:7808 +BMGC_DS05356,BMG_DS014272,salivary gland squamous cell carcinoma | UMLS ID:C0279697 | MONDO:0044740 +BMGC_DS05357,BMG_DS014274,parathyroid gland clear cell adenoma | parathyroid transitional clear cell adenoma | UMLS ID:C0279700 | DOID:7609 | MONDO:0004303 +BMGC_DS05358,BMG_DS014275,MONDO:0004304 | mixed cell type adenoma of parathyroid | UMLS ID:C0279701 | DOID:7610 +BMGC_DS05359,BMG_DS014276,UMLS ID:C0279702 | clear cell renal cell carcinoma | clear cell renal carcinoma | MONDO:0005005 | DOID:4467 +BMGC_DS05360,BMG_DS014277,thymoma type B3 | DOID:7926 | epithelial malignant thymoma | UMLS ID:C0279705 | MONDO:0006458 +BMGC_DS05361,BMG_DS014278,DOID:7599 | UMLS ID:C0279706 | lymphoepithelioma-like thymic carcinoma | MONDO:0004297 +BMGC_DS05362,BMG_DS014279,DOID:7927 | UMLS ID:C0279707 | MONDO:0004400 | malignant type A thymoma +BMGC_DS05363,BMG_DS014280,MONDO:0003402 | UMLS ID:C0279708 | testicular yolk sac tumor | DOID:5344 +BMGC_DS05364,BMG_DS014284,endometrial adenocarcinoma | UMLS ID:C0279763 | DOID:2870 +BMGC_DS05365,BMG_DS014285,endometrial clear cell adenocarcinoma | DOID:5299 | UMLS ID:C0279765 | MONDO:0006191 +BMGC_DS05366,BMG_DS014286,refractory hairy cell leukemia | DOID:711 | UMLS ID:C0279780 +BMGC_DS05367,BMG_DS014287,DOID:8272 | MONDO:0004518 | anterior urethra cancer | UMLS ID:C0279930 +BMGC_DS05368,BMG_DS014288,DOID:7488 | posterior urethra cancer | UMLS ID:C0279931 | MONDO:0004240 +BMGC_DS05369,BMG_DS014289,UMLS ID:C0279980 | MONDO:0018270 | extraosseous Ewings sarcoma-primitive neuroepithelial tumor | extraskeletal Ewing sarcoma | DOID:4985 +BMGC_DS05370,BMG_DS014290,DOID:3520 | MONDO:0002678 | pediatric fibrosarcoma | childhood fibrosarcoma | UMLS ID:C0279981 +BMGC_DS05371,BMG_DS014291,childhood malignant hemangiopericytoma | MONDO:0004344 | DOID:7731 | UMLS ID:C0279983 +BMGC_DS05372,BMG_DS014292,DOID:5695 | MONDO:0003587 | childhood liposarcoma | pediatric liposarcoma | UMLS ID:C0279984 +BMGC_DS05373,BMG_DS014293,alveolar soft part sarcoma | DOID:4239 | UMLS ID:C0279985 +BMGC_DS05374,BMG_DS014294,DOID:7732 | MONDO:0004345 | childhood malignant schwannoma | UMLS ID:C0279987 +BMGC_DS05375,BMG_DS014295,MONDO:0003022 | DOID:4505 | UMLS ID:C0279988 | pediatric angiosarcoma | childhood angiosarcoma +BMGC_DS05376,BMG_DS014296,UMLS ID:C0279989 | DOID:7095 | MONDO:0004105 | childhood epithelioid sarcoma +BMGC_DS05377,BMG_DS014297,MONDO:0003691 | UMLS ID:C0279991 | childhood malignant mesenchymoma | DOID:5893 +BMGC_DS05378,BMG_DS014299,lung carcinoid tumor | UMLS ID:C0280089 | MONDO:0006041 +BMGC_DS05379,BMG_DS014300,ovarian germ cell teratoma | UMLS ID:C0280131 | DOID:5567 | MONDO:0005602 | ovarian teratoma +BMGC_DS05380,BMG_DS014301,MONDO:0002372 | ovarian monodermal and highly specialized teratoma | ovarian germ cell monodermal and highly specialized teratoma | UMLS ID:C0280134 | DOID:2641 +BMGC_DS05381,BMG_DS014302,DOID:5936 | UMLS ID:C0280135 | MONDO:0003710 | ovarian mixed germ cell neoplasm +BMGC_DS05382,BMG_DS014303,UMLS ID:C0280141 | acute undifferentiated leukemia | MONDO:0020321 +BMGC_DS05383,BMG_DS014307,squamous cell carcinoma of lip | UMLS ID:C0280302 | MONDO:0021427 +BMGC_DS05384,BMG_DS014311,oropharynx squamous cell carcinoma | UMLS ID:C0280313 | MONDO:0044704 +BMGC_DS05385,BMG_DS014313,hypopharynx squamous cell carcinoma | MONDO:0044638 | UMLS ID:C0280321 +BMGC_DS05386,BMG_DS014314,UMLS ID:C0280324 | laryngeal squamous cell carcinoma | DOID:2876 | MONDO:0005595 +BMGC_DS05387,BMG_DS014315,UMLS ID:C0280325 | MONDO:0004080 | DOID:7031 | glottis squamous cell carcinoma +BMGC_DS05388,BMG_DS014316,DOID:7585 | UMLS ID:C0280326 | subglottis squamous cell carcinoma | MONDO:0004291 +BMGC_DS05389,BMG_DS014317,DOID:3752 | larynx verrucous carcinoma | UMLS ID:C0280328 | MONDO:0002766 +BMGC_DS05390,BMG_DS014318,DOID:7583 | glottis verrucous carcinoma | MONDO:0004289 | UMLS ID:C0280329 +BMGC_DS05391,BMG_DS014319,UMLS ID:C0280330 | subglottis verrucous carcinoma | DOID:7584 | MONDO:0004290 +BMGC_DS05392,BMG_DS014320,MONDO:0004292 | supraglottis verrucous carcinoma | DOID:7586 | UMLS ID:C0280331 +BMGC_DS05393,BMG_DS014321,nasal cavity and paranasal sinus squamous cell carcinoma | MONDO:0044787 | UMLS ID:C0280332 +BMGC_DS05394,BMG_DS014322,UMLS ID:C0280333 | DOID:5515 | nasal cavity squamous cell carcinoma | MONDO:0006059 +BMGC_DS05395,BMG_DS014323,UMLS ID:C0280334 | MONDO:0044705 | paranasal sinus cancer | DOID:0050619 | paranasal sinus squamous cell carcinoma +BMGC_DS05396,BMG_DS014324,MONDO:0003065 | UMLS ID:C0280336 | DOID:4633 | nasal cavity inverting papilloma +BMGC_DS05397,BMG_DS014325,MONDO:0004130 | UMLS ID:C0280470 | anus basaloid carcinoma | DOID:7174 +BMGC_DS05398,BMG_DS014326,DOID:3183 | MONDO:0002540 | UMLS ID:C0280475 | childhood oligodendroglioma +BMGC_DS05399,BMG_DS014327,childhood choroid plexus cancer | DOID:3545 | MONDO:0024744 | UMLS ID:C0280623 | childhood choroid plexus neoplasm +BMGC_DS05400,BMG_DS014328,UMLS ID:C0280630 | uterine carcinosarcoma | MONDO:0006485 | DOID:6171 +BMGC_DS05401,BMG_DS014329,DOID:5289 | UMLS ID:C0280631 | MONDO:0016262 | leiomyosarcoma of the corpus uteri | uterus leiomyosarcoma +BMGC_DS05402,BMG_DS014331,DOID:4593 | MONDO:0003057 | UMLS ID:C0280656 | childhood meningioma | pediatric meningioma +BMGC_DS05403,BMG_DS014332,cholangiocarcinoma | UMLS ID:C0280725 | DOID:4947 +BMGC_DS05404,BMG_DS014333,MONDO:0002225 | ovarian sarcoma | UMLS ID:C0280746 | DOID:2146 | ovary sarcoma +BMGC_DS05405,BMG_DS014334,UMLS ID:C0280783 | MONDO:0003999 | DOID:6811 | juvenile pilocytic astrocytoma +BMGC_DS05406,BMG_DS014336,UMLS ID:C0280787 | malignant adult ependymoma | MONDO:0003690 | DOID:5890 | adult anaplastic ependymoma +BMGC_DS05407,BMG_DS014337,UMLS ID:C0280788 | MONDO:0016700 | anaplastic ependymoma +BMGC_DS05408,BMG_DS014338,UMLS ID:C0280791 | MONDO:0004393 | mixed astrocytoma-ependymoma | DOID:7907 +BMGC_DS05409,BMG_DS014339,DOID:7817 | UMLS ID:C0280792 | mixed astrocytoma-ependymoma-oligodendroglioma | MONDO:0004366 +BMGC_DS05410,BMG_DS014340,DOID:7912 | mixed oligodendroglioma-astrocytoma | UMLS ID:C0280793 +BMGC_DS05411,BMG_DS014341,MONDO:0003248 | adult pineal parenchymal tumor | DOID:5031 | UMLS ID:C0280794 +BMGC_DS05412,BMG_DS014342,DOID:4858 | pineal gland astrocytoma | MONDO:0003171 | UMLS ID:C0280795 +BMGC_DS05413,BMG_DS014343,adult central nervous system germ cell tumor | DOID:5349 | MONDO:0003405 | UMLS ID:C0280796 | central nervous system adult germ cell tumor +BMGC_DS05414,BMG_DS014345,primary central nervous system lymphoma | UMLS ID:C0280803 | MONDO:0002571 | DOID:3234 | central nervous system lymphoma +BMGC_DS05415,BMG_DS014346,vulva squamous cell carcinoma | DOID:2101 | MONDO:0024609 | vulvar squamous cell carcinoma | UMLS ID:C0280856 +BMGC_DS05416,BMG_DS014349,UMLS ID:C0281267 | bilateral breast carcinoma | MONDO:0003982 | DOID:6741 | bilateral breast cancer +BMGC_DS05417,BMG_DS014350,UMLS ID:C0281329 | MONDO:0004320 | DOID:7656 | adult infiltrating astrocytic neoplasm +BMGC_DS05418,BMG_DS014351,"UMLS ID:C0281330 | DOID:7631 | adult embryonal tumor with multilayered rosettes, c19mc-altered | MONDO:0004310 | adult embryonal tumor with multilayered rosettes, C19MC-altered" +BMGC_DS05419,BMG_DS014352,adult pineoblastoma | UMLS ID:C0281332 | MONDO:0003957 | DOID:6648 +BMGC_DS05420,BMG_DS014353,MONDO:0004373 | adult papillary meningioma | UMLS ID:C0281334 | DOID:7826 +BMGC_DS05421,BMG_DS014354,UMLS ID:C0281361 | MONDO:0006047 | DOID:4074 | pancreatic adenocarcinoma +BMGC_DS05422,BMG_DS014356,desmoplastic small round cell tumor | UMLS ID:C0281508 | MONDO:0019373 +BMGC_DS05423,BMG_DS014357,UMLS ID:C0281658 | DOID:775 | MONDO:0004351 | intraocular lymphoma +BMGC_DS05424,BMG_DS014377,"MONDO:0020603 | Conradi-Hunermann syndrome | Chondrodysplasia punctata, Conradi-Hünermann type (disorder) | SNOMEDCT ID:22932004 | Conradi Hünermann Happle syndrome | Chondrodysplasia punctata, X-linked dominant type (disorder) | SNOMEDCT ID:398958000 | OMIM ID:302960 | UMLS ID:C0282102 | Conradi's syndrome | X-linked chondrodysplasia punctata 2 | Conradi-Hünermann syndrome | Chondrodysplasia calcificans congenita | Chondrodysplasia punctata, Conradi-Hünermann type | Chondrodystrophia calcificans congenita | X-linked chondrodysplasia punctata type 2 | Happle syndrome | Chondrodysplasia punctata, Conradi-Hunermann type | Chondrodysplasia punctata, X-linked dominant type" +BMGC_DS05425,BMG_DS014378,neurotic disorder | MONDO:0024614 | neurotic depression | UMLS ID:C0282126 | DOID:4964 +BMGC_DS05426,BMG_DS014379,MONDO:0007145 | UMLS ID:C0282160 | aplasia cutis congenita | OMIM ID:107600 +BMGC_DS05427,BMG_DS014381,UMLS ID:C0282193 | MeSH ID:D019190 | Iron Overload +BMGC_DS05428,BMG_DS014383,Cronkhite-Canada syndrome | UMLS ID:C0282207 | MONDO:0008283 | OMIM ID:175500 | MeSH ID:D000098858 | Cronkhite-Canada Syndrome +BMGC_DS05429,BMG_DS014384,Amaurotic Familial Idiocy | MeSH ID:D013661 | Tay-Sachs Disease | UMLS ID:C0282220 +BMGC_DS05430,BMG_DS014387,bubonic plague | MONDO:0001112 | MeSH ID:D010930 | UMLS ID:C0282312 | Bubonic Plague | DOID:10773 | Plague +BMGC_DS05431,BMG_DS014388,"UMLS ID:C0282488 | Cystitis, Interstitial | MONDO:0018301 | MeSH ID:D018856 | DOID:13949 | Interstitial Cystitis | interstitial cystitis" +BMGC_DS05432,BMG_DS014389,DOID:13096 | Sneddon Syndrome | MONDO:0008436 | Sneddon syndrome | UMLS ID:C0282492 | MeSH ID:D018860 | OMIM ID:182410 +BMGC_DS05433,BMG_DS014390,MeSH ID:D018876 | UMLS ID:C0282504 | Environmental Illness +BMGC_DS05434,BMG_DS014391,DOID:2538 | OMIM ID:245570 | MONDO:0009509 | UMLS ID:C0282512 | Landau-Kleffner Syndrome | Landau-Kleffner syndrome | MeSH ID:D018887 +BMGC_DS05435,BMG_DS014392,MONDO:0019806 | UMLS ID:C0282513 | primary progressive aphasia +BMGC_DS05436,BMG_DS014393,"Peroxisomal Disorders | MeSH ID:D018901 | Adrenoleukodystrophy, Neonatal | UMLS ID:C0282525" +BMGC_DS05437,BMG_DS014394,Hyperpipecolic Acidemia | MeSH ID:D018901 | UMLS ID:C0282526 | Peroxisomal Disorders +BMGC_DS05438,BMG_DS014395,"infantile Refsum disease | DOID:0050444 | peroxisome biogenesis disorder 1B | MeSH ID:D052919 | Refsum Disease, Infantile | OMIM ID:601539 | obsolete infantile Refsum disease | UMLS ID:C0282527 | MONDO:0011101;MONDO:0019174" +BMGC_DS05439,BMG_DS014396,DOID:906 | UMLS ID:C0282528 | MeSH ID:D018901 | MONDO:0019053 | Peroxisomal Disorders | peroxisomal disease +BMGC_DS05440,BMG_DS014397,"UMLS ID:C0282529 | MeSH ID:D018902 | Chondrodysplasia Punctata, Rhizomelic | DOID:2580 | MONDO:0015776 | rhizomelic chondrodysplasia punctata" +BMGC_DS05441,BMG_DS014398,Leukostasis | SNOMEDCT ID:30419000 | MONDO:0006831 | Leukostasis (morphologic abnormality) | UMLS ID:C0282548 | DOID:12986 | leukostasis | MeSH ID:D018921 +BMGC_DS05442,BMG_DS014399,UMLS ID:C0282550 | persian gulf syndrome | MONDO:0005907 | Persian Gulf Syndrome | DOID:4491 | MeSH ID:D018923 +BMGC_DS05443,BMG_DS014400,MeSH ID:D018981 | Congenital Disorders of Glycosylation | DOID:5212 | UMLS ID:C0282577 | congenital disorder of glycosylation | MONDO:0015286 +BMGC_DS05444,BMG_DS014401,muscle benign neoplasm | myomatous neoplasm | DOID:461 | MONDO:0021545 | UMLS ID:C0282606 +BMGC_DS05445,BMG_DS014402,vascular neoplasm | DOID:175 | MONDO:0024296 | UMLS ID:C0282607 | vascular cancer +BMGC_DS05446,BMG_DS014403,UMLS ID:C0282609 | MONDO:0005374 | bone marrow neoplasm +BMGC_DS05447,BMG_DS014406,"Smith-Lemli-Opitz Syndrome, Type I | Smith-Lemli-Opitz Syndrome | UMLS ID:C0282643 | MeSH ID:D019082" +BMGC_DS05448,BMG_DS014407,"MeSH ID:D019082 | UMLS ID:C0282644 | Smith-Lemli-Opitz Syndrome, Type II | Smith-Lemli-Opitz Syndrome" +BMGC_DS05449,BMG_DS014410,"MeSH ID:D019142 | DOID:4325 | Ebola hemorrhagic fever | Hemorrhagic Fever, Ebola | UMLS ID:C0282687 | MONDO:0005737" +BMGC_DS05450,BMG_DS014411,SNOMEDCT ID:187098003 | Zygomycosis | SNOMEDCT ID:59277005 | Phycomycosis | Zygomycosis (& [mucormycosis]) | MeSH ID:D020096 | Zygomycosis (& [mucormycosis]) (disorder) | Mucormycosis | Zygomycosis (disorder) | UMLS ID:C0300933 +BMGC_DS05451,BMG_DS014413,Alymphocytosis | Lymphocytopenia | UMLS ID:C0300946 | SNOMEDCT ID:48813009 | Lymphocytopenia (disorder) | Lymphopenia +BMGC_DS05452,BMG_DS014414,caudal regression sequence | UMLS ID:C0300948 | MONDO:0017607 +BMGC_DS05453,BMG_DS014423,Merkel cell carcinoma | MONDO:0002822 | DOID:3965 | UMLS ID:C0302182 | trabecular adenocarcinoma +BMGC_DS05454,BMG_DS014426,UMLS ID:C0302313 | MONDO:0043731 | lytic metastatic bone lesion +BMGC_DS05455,BMG_DS014427,UMLS ID:C0302314 | Xanthoma | Xanthomatosis | OMIM ID:MTHU012701 | SNOMEDCT ID:75594004 | Xanthoma of eyelid | MeSH ID:D014973 | Xanthelasma | SNOMEDCT ID:63103006 | Xanthomatous deposition (morphologic abnormality) | xanthoma | Xanthomatous deposition | Xanthoma of eyelid (disorder) | SNOMEDCT ID:6400008 | MONDO:0005236 | Xanthomatosis (disorder) +BMGC_DS05456,BMG_DS014428,"Porokeratosis | MONDO:0023246 | linear porokeratosis | Porokeratosis, Linear | UMLS ID:C0302319 | MeSH ID:D017499" +BMGC_DS05457,BMG_DS014429,meninges sarcoma | DOID:7614 | UMLS ID:C0302327 | meningeal sarcoma | MONDO:0004308 +BMGC_DS05458,BMG_DS014433,MONDO:0001972 | DOID:14456 | UMLS ID:C0302362 | Brucella melitensis brucellosis +BMGC_DS05459,BMG_DS014434,UMLS ID:C0302363 | Brucella abortus brucellosis | DOID:14457 | MONDO:0001973 +BMGC_DS05460,BMG_DS014436,Alcohol Withdrawal Delirium | Alcohol Withdrawal Hallucinosis | UMLS ID:C0302369 | MeSH ID:D000430 +BMGC_DS05461,BMG_DS014441,cervix carcinoma | UMLS ID:C0302592 | cervical carcinoma | MONDO:0005131 | DOID:2893 +BMGC_DS05462,BMG_DS014442,MeSH ID:D047508 | UMLS ID:C0302809 | Fulminant Hepatitis | Massive Hepatic Necrosis +BMGC_DS05463,BMG_DS014444,"UMLS ID:C0302859 | MeSH ID:C562732 | OMIM ID:138800 | Euthyroid Goiter | MONDO:0007681 | goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" +BMGC_DS05464,BMG_DS014446,UMLS ID:C0302892 | porencephaly | DOID:0060263 +BMGC_DS05465,BMG_DS014452,Folliculitis depilans | Folliculitis decalvans | SNOMEDCT ID:53651004 | Folliculitis decalvans (disorder) | Pustular folliculitis | Pustular folliculitis (disorder) | SNOMEDCT ID:53593008 | UMLS ID:C0311217 +BMGC_DS05466,BMG_DS014455,"SNOMEDCT ID:202837002 | SNOMEDCT ID:202847004 | Adhesive capsulitis of shoulder | Adhesive capsulitis of shoulder (disorder) | Frozen shoulder | (Shoulder: [syndrome (& [painful arc][rotator cuff])][bicipital tendinit][bursitis][frozen][pericapsulit][adhes capsulit]) or (tendinitis: [subscapular][supraspinat][infraspinat][bicep long head]) | frozen shoulder | Pericapsulitis, shoulder | MONDO:0006763 | SNOMEDCT ID:156664007 | Periarthritis of shoulder | Shoulder: (frozen) or (adhesive capsulitis) or (bursitis) | Adhesions-capsulitis,shoulder | DOID:14188 | SNOMEDCT ID:399114005 | Shoulder: (frozen) or (adhesive capsulitis) or (bursitis) (disorder) | Scapulohumeral myofibrosis | Bursitis of shoulder | Subscapularis tendinitis | Rotator cuff syndrome | Adhesive capsulitis shoulder | Shoulder syndrome | Painful arc syndr - shoulder | Supraspinatus tendinitis | Duplay periarthritis syndrome | ICD10 ID:M75.0 | SNOMEDCT ID:8753005 | UMLS ID:C0311223 | Adhesive capsulitis of the shoulder | Infraspinatus tendinitis | Frozen shoulder (disorder) | SNOMEDCT ID:156658000 | Duplay's periarthritis syndrome | Painful arc syndrome: shoulder | Bursitis - shoulder | ICD11 ID:FB53.0 | (Shoulder: [syndrome (& [painful arc][rotator cuff])][bicipital tendinit][bursitis][frozen][pericapsulit][adhes capsulit]) or (tendinitis: [subscapular][supraspinat][infraspinat][bicep long head]) (disorder) | Biceps tendinitis (long head) | SNOMEDCT ID:268087008 | Bicipital tendinitis-shoulder | Pericapsulitis of shoulder | Scapulohumeral fibrositis" +BMGC_DS05467,BMG_DS014457,Kidney: [congenital cystic disease] or [fibrocystic] or [polycystic] or [sponge] (disorder) | PCK - Polycystic kidney disease | Multiple congenital cysts of kidney | Congenital polycystic kidney disease | Sponge kidney | Polycystic kidney | UMLS ID:C0311245 | Congenital cystic kidney disease (disorder) | SNOMEDCT ID:204954005 | Congenital cystic kidney disease | Polycystic kidney disease | Kidney: [congenital cystic disease] or [fibrocystic] or [polycystic] or [sponge] | PKD - Polycystic kidney disease | SNOMEDCT ID:82525005 | DOID:0050778 | Congenital cystic disease of kidney | Fibrocystic kidney | Congenital cyst of kidney | Congenital cystic renal disease | Meckel syndrome +BMGC_DS05468,BMG_DS014458,DOID:0111716 | cryptophthalmia | MONDO:0020153 | UMLS ID:C0311249 +BMGC_DS05469,BMG_DS014459,DOID:11211 | UMLS ID:C0311251 | buphthalmos +BMGC_DS05470,BMG_DS014460,MONDO:0004622 | Chronic intestinal ischemia | CMI - Chronic mesenteric ischaemia | chronic intestinal vascular insufficiency | Chronic intestinal ischemic syndrome | UMLS ID:C0311262 | Chronic intestinal ischaemic syndrome | DOID:8633 | SNOMEDCT ID:111354009 | Chronic intestinal ischaemia | Chronic vascular insufficiency of intestine (disorder) | SNOMEDCT ID:266448009 | CMI - Chronic mesenteric ischemia | Chronic vascular insufficiency of intestine | Chronic mesenteric ischemia | Chronic intestinal vascular insufficiency | Chronic mesenteric ischaemia (disorder) | Chronic mesenteric ischaemia +BMGC_DS05471,BMG_DS014463,Ascending cholangitis (disorder) | DOID:14270 | MONDO:0001929 | UMLS ID:C0311273 | Ascending cholangitis | ICD10 ID:K83.09 | SNOMEDCT ID:26918003 | ascending cholangitis +BMGC_DS05472,BMG_DS014465,Multicentric reticulohistiocytosis | DOID:11824 | Lipoid dermatoarthritis | UMLS ID:C0311284 | Lipoid dermatoarthritis (disorder) | multicentric reticulohistiocytosis | ICD10 ID:E78.81 | MONDO:0015347 | Nicolau-Balus syndrome | SNOMEDCT ID:84241008 +BMGC_DS05473,BMG_DS014475,MeSH ID:D013226 | UMLS ID:C0311335 | Grand Mal Status Epilepticus | Status Epilepticus +BMGC_DS05474,BMG_DS014477,OMIM ID:136880 | MONDO:0007639 | DOID:11105 | fundus albipunctatus | UMLS ID:C0311338 +BMGC_DS05475,BMG_DS014487,Lupus anticoagulant inhibitor syndrome | Lupus anticoagulant disorder | UMLS ID:C0311370 | SLE inhibitor syndrome | Lupus anticoagulant disorder (disorder) | SNOMEDCT ID:19267009 | Lupus anticoagulant +BMGC_DS05476,BMG_DS014491,"SNOMEDCT ID:240373006 | ICD10 ID:A07.3 | MeSH ID:D021865 | Intestinal coccidiosis (disorder) | SNOMEDCT ID:360427001 | Isosporiasis (disorder) | UMLS ID:C0311386 | SNOMEDCT ID:73034009 | SNOMEDCT ID:371423007 | ICD11 ID:1A33.Z | cystoisosporiasis | Intestinal coccidiosis | Isosporosis | Cystoisosporiasis, unspecified | isosporiasis | Coccidial enteritis | DOID:2112 | Isosporiasis | MONDO:0018769" +BMGC_DS05477,BMG_DS014493,UMLS ID:C0311389 | DOID:1343 | SNOMEDCT ID:154388003 | Nonspecific urethritis (disorder) | urethritis | Nonspecific urethritis +BMGC_DS05478,BMG_DS014494,MONDO:0024288 | UMLS ID:C0311468 | hyperbilirubinemia +BMGC_DS05479,BMG_DS014500,UMLS ID:C0332878 | congenital contractures | MONDO:0022823 +BMGC_DS05480,BMG_DS014521,MONDO:0020579 | UMLS ID:C0333355 | mucositis +BMGC_DS05481,BMG_DS014538,amyloid tumor | UMLS ID:C0333572 | DOID:6755 +BMGC_DS05482,BMG_DS014544,Focal Nodular Hyperplasia | MeSH ID:D020518 | UMLS ID:C0333980 +BMGC_DS05483,BMG_DS014546,clear cell acanthoma | MONDO:0002086 | UMLS ID:C0333992 | DOID:172 +BMGC_DS05484,BMG_DS014553,UMLS ID:C0334019 | inverted follicular keratosis | MONDO:0006563 | DOID:6945 +BMGC_DS05485,BMG_DS014557,MONDO:0004191 | nephrogenic adenoma | UMLS ID:C0334039 | DOID:7334 +BMGC_DS05486,BMG_DS014558,Cutaneous ossification | SNOMEDCT ID:71304002 | progressive osseous heteroplasia | Osteoma cutis | SNOMEDCT ID:404074003 | Osteoma cutis (morphologic abnormality) | Osteodermia | OMIM ID:166350 | Osteoma cutis (disorder) | Osteosis cutis | DOID:0111535 | UMLS ID:C0334041 | MONDO:0008153 +BMGC_DS05487,BMG_DS014562,"Fibrocystic change, proliferative type with atypia (morphologic abnormality) | proliferative type fibrocystic change of breast | SNOMEDCT ID:35813005 | DOID:3274 | UMLS ID:C0334056 | Fibrocystic change, proliferative type with atypia" +BMGC_DS05488,BMG_DS014564,"epidermal nevus | nevus, epidermal | MeSH ID:C580062 | MONDO:0008093 | UMLS ID:C0334082 | Epidermal Nevus | DOID:0111162 | OMIM ID:162900" +BMGC_DS05489,BMG_DS014566,Lymphangiomatosis (morphologic abnormality) | SNOMEDCT ID:86970009 | Lymphangiomatosis (disorder) | Lymphangiomatosis | UMLS ID:C0334102 | SNOMEDCT ID:403546006 +BMGC_DS05490,BMG_DS014569,UMLS ID:C0334121 | MONDO:0015798 | inflammatory myofibroblastic tumor +BMGC_DS05491,BMG_DS014572,"OMIM ID:235900 | familial lipochrome histiocytosis | UMLS ID:C0334125 | MONDO:0009347 | Histiocytosis, Familial Lipochrome | MeSH ID:C562738" +BMGC_DS05492,BMG_DS014578,MONDO:0002402 | UMLS ID:C0334229 | DOID:2705 | malignant giant cell tumor +BMGC_DS05493,BMG_DS014581,pleomorphic carcinoma | DOID:5662 | UMLS ID:C0334233 | MONDO:0003573 +BMGC_DS05494,BMG_DS014582,DOID:0050685 | MONDO:0000402 | small cell carcinoma | UMLS ID:C0334239 +BMGC_DS05495,BMG_DS014583,DOID:3177 | UMLS ID:C0334243 | MONDO:0002535 | verrucous papilloma +BMGC_DS05496,BMG_DS014584,UMLS ID:C0334244 | papillary squamous carcinoma | MONDO:0002979 | DOID:4385 +BMGC_DS05497,BMG_DS014587,DOID:5521 | keratinizing squamous cell carcinoma | UMLS ID:C0334247 | MONDO:0005056 +BMGC_DS05498,BMG_DS014588,UMLS ID:C0334250 | adenoid squamous cell carcinoma | DOID:5524 +BMGC_DS05499,BMG_DS014589,UMLS ID:C0334254 | DOID:5660 | lymphoepithelioma-like carcinoma | MONDO:0003572 | nasopharyngeal type undifferentiated carcinoma +BMGC_DS05500,BMG_DS014590,superficial basal cell carcinoma | superficial multifocal basal cell carcinoma | MONDO:0002954 | UMLS ID:C0334256 | DOID:4300 +BMGC_DS05501,BMG_DS014592,Borst-Jadassohn intraepidermal carcinoma | UMLS ID:C0334260 | DOID:7039 +BMGC_DS05502,BMG_DS014594,UMLS ID:C0334265 | DOID:2671 | transitional cell neoplasm | MONDO:0037254 | transitional cell carcinoma +BMGC_DS05503,BMG_DS014595,transitional cell papilloma | UMLS ID:C0334266 | transitional papilloma | MONDO:0005605 | DOID:2670 +BMGC_DS05504,BMG_DS014596,DOID:4630 | inverted transitional papilloma | UMLS ID:C0334269 +BMGC_DS05505,BMG_DS014597,Schneiderian carcinoma | non-keratinizing sinonasal squamous cell carcinoma | DOID:4003 | MONDO:0002831 | UMLS ID:C0334270 +BMGC_DS05506,BMG_DS014598,DOID:4014 | MONDO:0002837 | UMLS ID:C0334271 | sarcomatoid transitional cell carcinoma +BMGC_DS05507,BMG_DS014599,DOID:7173 | MONDO:0004129 | cloacogenic carcinoma | UMLS ID:C0334273 +BMGC_DS05508,BMG_DS014600,papillary transitional cell carcinoma | UMLS ID:C0334274 | MONDO:0006350 | DOID:4012 | papillary transitional carcinoma +BMGC_DS05509,BMG_DS014601,MONDO:0003218 | UMLS ID:C0334276 | DOID:4943 | adenocarcinoma in situ +BMGC_DS05510,BMG_DS014603,MONDO:0021652 | diffuse type adenocarcinoma | UMLS ID:C0334280 | gastric diffuse adenocarcinoma | DOID:6217 +BMGC_DS05511,BMG_DS014604,bile duct cystadenoma | DOID:5384 | MONDO:0003420 | UMLS ID:C0334285 +BMGC_DS05512,BMG_DS014605,bile duct cystadenocarcinoma | bile duct mucinous cystic neoplasm with an associated invasive carcinoma | UMLS ID:C0334286 | DOID:4075 | MONDO:0002868 +BMGC_DS05513,BMG_DS014606,UMLS ID:C0334287 | MONDO:0006210 | fibrolamellar carcinoma | DOID:5015 | fibrolamellar hepatocellular carcinoma +BMGC_DS05514,BMG_DS014610,UMLS ID:C0334303 | DOID:8003 | MONDO:0004428 | alveoli adenoma +BMGC_DS05515,BMG_DS014611,MONDO:0003204 | UMLS ID:C0334306 | DOID:4917 | villous adenocarcinoma +BMGC_DS05516,BMG_DS014613,mixed eosinophil-basophil adenoma | pituitary gland mixed eosinophil-basophil adenoma | UMLS ID:C0334312 | DOID:7179 | MONDO:0004133 +BMGC_DS05517,BMG_DS014614,DOID:4915 | UMLS ID:C0334314 | basophilic adenocarcinoma +BMGC_DS05518,BMG_DS014615,clear cell adenoma | DOID:5390 | UMLS ID:C0334315 | MONDO:0003426 +BMGC_DS05519,BMG_DS014616,DOID:5482;DOID:5477 | MONDO:0003460 | UMLS ID:C0334317 | clear cell adenofibroma | cystadenofibroma +BMGC_DS05520,BMG_DS014617,MONDO:0003570 | lipid-rich carcinoma | DOID:5658 | UMLS ID:C0334318 +BMGC_DS05521,BMG_DS014618,glycogen-rich carcinoma | DOID:0081028 | MONDO:0045055 | UMLS ID:C0334319 +BMGC_DS05522,BMG_DS014619,UMLS ID:C0334320 | MONDO:0004302 | DOID:7607 | chief cell adenoma +BMGC_DS05523,BMG_DS014620,MONDO:0003433 | DOID:5401 | UMLS ID:C0334321 | water-clear cell adenoma +BMGC_DS05524,BMG_DS014621,clear cell adenocarcinoma | DOID:4468 | UMLS ID:C0334322 +BMGC_DS05525,BMG_DS014622,mixed cell adenoma | MONDO:0003421 | UMLS ID:C0334323 | DOID:5385 +BMGC_DS05526,BMG_DS014623,MONDO:0003431 | lipoadenoma | UMLS ID:C0334325 | DOID:5398 +BMGC_DS05527,BMG_DS014624,DOID:3964 | trabecular follicular adenocarcinoma | MONDO:0002821 | UMLS ID:C0334327 +BMGC_DS05528,BMG_DS014625,UMLS ID:C0334328 | MONDO:0004460 | DOID:8102 | thyroid gland fetal adenoma | fetal adenoma +BMGC_DS05529,BMG_DS014626,MONDO:0004558 | thyroid gland macrofollicular adenoma | DOID:8419 | UMLS ID:C0334329 | colloid adenoma +BMGC_DS05530,BMG_DS014627,UMLS ID:C0334330 | DOID:5914 | thyroid gland diffuse sclerosing papillary carcinoma | MONDO:0003701 | diffuse sclerosing papillary thyroid carcinoma +BMGC_DS05531,BMG_DS014629,UMLS ID:C0334345 | apocrine adenoma | DOID:3895 | MONDO:0002804 +BMGC_DS05532,BMG_DS014630,apocrine carcinoma | apocrine adenocarcinoma | MONDO:0003214 | UMLS ID:C0334346 | DOID:4933 +BMGC_DS05533,BMG_DS014631,UMLS ID:C0334347 | spiradenoma | benign spiradenoma | DOID:5444 | MONDO:0003448 +BMGC_DS05534,BMG_DS014632,MONDO:0003446 | DOID:5439 | papillary hidradenoma | UMLS ID:C0334348 +BMGC_DS05535,BMG_DS014633,eccrine papillary adenoma | MONDO:0003450 | UMLS ID:C0334350 | DOID:5446 +BMGC_DS05536,BMG_DS014634,ceruminoma | UMLS ID:C0334352 | DOID:7549 | MONDO:0004276 +BMGC_DS05537,BMG_DS014635,DOID:6446 | ceruminous adenocarcinoma | ceruminous carcinoma | UMLS ID:C0334353 | MONDO:0003880 +BMGC_DS05538,BMG_DS014637,MONDO:0002362 | UMLS ID:C0334360 | serous surface papilloma | DOID:2614 +BMGC_DS05539,BMG_DS014638,mucin-producing carcinoma | MONDO:0020596 | UMLS ID:C0334368 | DOID:3030 | mucinous adenocarcinoma +BMGC_DS05540,BMG_DS014640,DOID:4922 | UMLS ID:C0334371 | MONDO:0003208 | breast secretory carcinoma +BMGC_DS05541,BMG_DS014641,DOID:2682 | intracystic papillary adenoma | UMLS ID:C0334374 | MONDO:0002388 +BMGC_DS05542,BMG_DS014645,DOID:657 | UMLS ID:C0334389 | adenoma +BMGC_DS05543,BMG_DS014646,DOID:5309 | epithelial-myoepithelial carcinoma | MONDO:0003389 | UMLS ID:C0334392 +BMGC_DS05544,BMG_DS014647,adenoid squamous cell carcinoma | DOID:5524 | UMLS ID:C0334393 +BMGC_DS05545,BMG_DS014648,UMLS ID:C0334401 | DOID:2999 | granulosa cell tumor +BMGC_DS05546,BMG_DS014649,DOID:6032 | UMLS ID:C0334403 | juvenile type testicular granulosa cell tumor +BMGC_DS05547,BMG_DS014652,malignant Leydig cell tumor | Leydig cell tumor | UMLS ID:C0334410 | DOID:2696 | MONDO:0000377 +BMGC_DS05548,BMG_DS014657,DOID:2436 | glomangioma | MONDO:0002299 | UMLS ID:C0334421 +BMGC_DS05549,BMG_DS014658,DOID:8020 | glomangiomyoma | MONDO:0024323 | UMLS ID:C0334422 +BMGC_DS05550,BMG_DS014659,DOID:10047 | UMLS ID:C0334424 | nodular malignant melanoma | MONDO:0000930 +BMGC_DS05551,BMG_DS014660,MONDO:0000929 | balloon cell malignant melanoma | DOID:10044 | UMLS ID:C0334426 +BMGC_DS05552,BMG_DS014662,DOID:4360 | UMLS ID:C0334443 | epithelioid cell melanoma | MONDO:0002973 +BMGC_DS05553,BMG_DS014663,MONDO:0006427 | malignant spindle cell melanoma | DOID:3162 | spindle cell melanoma | UMLS ID:C0334444 +BMGC_DS05554,BMG_DS014665,DOID:7615 | MONDO:0004309 | UMLS ID:C0334451 | sarcomatosis +BMGC_DS05555,BMG_DS014666,UMLS ID:C0334459 | congenital fibrosarcoma | MONDO:0004557 | DOID:8418 +BMGC_DS05556,BMG_DS014668,DOID:1907 | UMLS ID:C0334463 | malignant fibrous histiocytoma | MONDO:0002142 | undifferentiated pleomorphic sarcoma +BMGC_DS05557,BMG_DS014670,MONDO:0003595 | UMLS ID:C0334469 | sclerosing liposarcoma | DOID:5704 +BMGC_DS05558,BMG_DS014671,DOID:5692 | cellular myxoid liposarcoma | UMLS ID:C0334471 | round cell liposarcoma | MONDO:0005238 +BMGC_DS05559,BMG_DS014672,DOID:5703 | mixed liposarcoma | MONDO:0003594 | UMLS ID:C0334472 +BMGC_DS05560,BMG_DS014673,DOID:7014 | MONDO:0004075 | infiltrating lipoma | UMLS ID:C0334473 +BMGC_DS05561,BMG_DS014674,spindle cell lipoma | UMLS ID:C0334474 | MONDO:0000962 | DOID:10184 +BMGC_DS05562,BMG_DS014675,DOID:5139 | MONDO:0003296 | UMLS ID:C0334477 | cellular leiomyoma +BMGC_DS05563,BMG_DS014676,MONDO:0003288 | UMLS ID:C0334478 | DOID:5127 | bizarre leiomyoma +BMGC_DS05564,BMG_DS014677,DOID:3250 | UMLS ID:C0334480 | MONDO:0017386 | pleomorphic rhabdomyosarcoma +BMGC_DS05565,BMG_DS014678,mixed type rhabdomyosarcoma | DOID:4065 | UMLS ID:C0334481 +BMGC_DS05566,BMG_DS014680,DOID:4880 | clear cell sarcoma of kidney | kidney clear cell sarcoma | UMLS ID:C0334488 | MONDO:0005006 +BMGC_DS05567,BMG_DS014681,UMLS ID:C0334489 | DOID:6823 | MONDO:0019035 | pancreatoblastoma +BMGC_DS05568,BMG_DS014683,malignant mesenchymoma | DOID:5758 | MONDO:0003633 | UMLS ID:C0334492 +BMGC_DS05569,BMG_DS014684,DOID:4217 | MONDO:0002920 | malignant ovarian Brenner tumor | UMLS ID:C0334495 +BMGC_DS05570,BMG_DS014685,UMLS ID:C0334496 | MONDO:0002377 | DOID:2656 | breast intracanalicular fibroadenoma +BMGC_DS05571,BMG_DS014686,DOID:2639 | breast pericanalicular fibroadenoma | UMLS ID:C0334497 | MONDO:0002371 +BMGC_DS05572,BMG_DS014688,UMLS ID:C0334499 | MONDO:0002398 | DOID:2700 | mucinous adenofibroma +BMGC_DS05573,BMG_DS014690,spindle cell synovial sarcoma | MONDO:0003466 | UMLS ID:C0334505 | DOID:5487 +BMGC_DS05574,BMG_DS014691,epithelioid cell synovial sarcoma | UMLS ID:C0334506 | DOID:5494 | MONDO:0003469 +BMGC_DS05575,BMG_DS014692,DOID:5492 | MONDO:0003468 | biphasic synovial sarcoma | UMLS ID:C0334507 +BMGC_DS05576,BMG_DS014693,DOID:2653 | benign fibrous mesothelioma | UMLS ID:C0334511 +BMGC_DS05577,BMG_DS014694,MONDO:0006407 | sarcomatoid mesothelioma | DOID:4488 | UMLS ID:C0334513 +BMGC_DS05578,BMG_DS014695,malignant biphasic mesothelioma | DOID:4486 | MONDO:0006109 | UMLS ID:C0334515 +BMGC_DS05579,BMG_DS014696,DOID:5834 | spermatocytic seminoma | spermatocytoma | UMLS ID:C0334517 | MONDO:0020513 +BMGC_DS05580,BMG_DS014698,immature teratoma | MONDO:0024746 | malignant teratoma | DOID:5563 | UMLS ID:C0334520 +BMGC_DS05581,BMG_DS014699,DOID:7202 | intermediate malignant teratoma | MONDO:0004140 | UMLS ID:C0334522 +BMGC_DS05582,BMG_DS014701,UMLS ID:C0334524 | DOID:3306 | mixed germ cell tumor | MONDO:0015864 | mixed germ cell cancer +BMGC_DS05583,BMG_DS014702,UMLS ID:C0334525 | MONDO:0003332 | malignant struma ovarii | DOID:5208 +BMGC_DS05584,BMG_DS014703,partial hydatidiform mole | MONDO:0016786 | UMLS ID:C0334529 +BMGC_DS05585,BMG_DS014707,arteriovenous malformation | arteriovenous hemangioma/malformation | UMLS ID:C0334533 | MONDO:0001256 | DOID:11294 +BMGC_DS05586,BMG_DS014709,DOID:470 | UMLS ID:C0334540 | MONDO:0018734 | verrucous hemangioma | verrucous keratotic hemangioma +BMGC_DS05587,BMG_DS014710,"UMLS ID:C0334542 | OMIM ID:234820 | hemangiopericytoma, malignant | MONDO:0009330" +BMGC_DS05588,BMG_DS014712,osteosarcoma arising in bone Paget disease | DOID:7542 | MONDO:0004275 | UMLS ID:C0334546 | osteosarcoma arising in bone Paget's disease +BMGC_DS05589,BMG_DS014713,UMLS ID:C0334548 | juxtacortical chondroma | periosteal chondroma | DOID:2601 | MONDO:0002359 +BMGC_DS05590,BMG_DS014714,MONDO:0003680 | DOID:5866 | juxtacortical chondrosarcoma | UMLS ID:C0334549 | periosteal chondrosarcoma +BMGC_DS05591,BMG_DS014715,MONDO:0003681 | UMLS ID:C0334551 | DOID:5861 | myxoid chondrosarcoma +BMGC_DS05592,BMG_DS014716,DOID:4719 | bone giant cell sarcoma | UMLS ID:C0334552 | malignancy in giant cell tumor of bone | MONDO:0006287 +BMGC_DS05593,BMG_DS014718,DOID:5638 | MONDO:0003561 | malignant giant cell tumor of soft parts | UMLS ID:C0334554 +BMGC_DS05594,BMG_DS014719,adamantinoma | UMLS ID:C0334556 | long bone adamantinoma | MONDO:0002422 | DOID:2775;DOID:2776 | OMIM ID:102660 +BMGC_DS05595,BMG_DS014722,UMLS ID:C0334576 | gliomatosis cerebri | DOID:6128 | MONDO:0016683 +BMGC_DS05596,BMG_DS014723,MONDO:0003475 | UMLS ID:C0334578 | papillary ependymoma | DOID:5505 +BMGC_DS05597,BMG_DS014724,anaplastic astrocytoma | MONDO:0016684 | UMLS ID:C0334579 | DOID:3078 +BMGC_DS05598,BMG_DS014725,protoplasmic astrocytoma | DOID:7008 | MONDO:0016687 | UMLS ID:C0334580 +BMGC_DS05599,BMG_DS014726,gemistocytic astrocytoma | DOID:7005 | MONDO:0016689 | UMLS ID:C0334581 +BMGC_DS05600,BMG_DS014727,fibrillary astrocytoma | DOID:6726 | UMLS ID:C0334582 | MONDO:0016688 +BMGC_DS05601,BMG_DS014728,MONDO:0016691 | UMLS ID:C0334583 | pilocytic astrocytoma | DOID:4851 +BMGC_DS05602,BMG_DS014729,pleomorphic xanthoastrocytoma | DOID:4852 | MONDO:0016690 | UMLS ID:C0334586 +BMGC_DS05603,BMG_DS014730,astroblastoma | UMLS ID:C0334587 | DOID:7305 | MONDO:0016707 +BMGC_DS05604,BMG_DS014731,giant cell glioblastoma | DOID:3074 | UMLS ID:C0334588 | MONDO:0016682 +BMGC_DS05605,BMG_DS014732,MONDO:0016696 | UMLS ID:C0334590 | anaplastic oligodendroglioma +BMGC_DS05606,BMG_DS014734,UMLS ID:C0334599 | MONDO:0002383 | Pacinian tumor | DOID:2669 +BMGC_DS05607,BMG_DS014735,MONDO:0004145 | meningothelial meningioma | UMLS ID:C0334605 | DOID:7212 +BMGC_DS05608,BMG_DS014736,fibrous meningioma | MONDO:0004144 | DOID:7211 | UMLS ID:C0334606 +BMGC_DS05609,BMG_DS014737,UMLS ID:C0334607 | psammomatous meningioma | DOID:7210 | MONDO:0004143 +BMGC_DS05610,BMG_DS014738,DOID:6548 | UMLS ID:C0334608 | MONDO:0003918 | angiomatous meningioma +BMGC_DS05611,BMG_DS014739,DOID:7213 | UMLS ID:C0334611 | MONDO:0004146 | transitional meningioma +BMGC_DS05612,BMG_DS014740,sarcomatosis of the meninges | UMLS ID:C0334612 | MONDO:0004307 | DOID:7613 +BMGC_DS05613,BMG_DS014741,DOID:6707 | malignant triton tumor | MONDO:0016757 | UMLS ID:C0334616 +BMGC_DS05614,BMG_DS014742,malignant granular cell myoblastoma | MONDO:0003252 | DOID:5042 | granular cell cancer | UMLS ID:C0334618 +BMGC_DS05615,BMG_DS014743,UMLS ID:C0334633 | lymphoplasmacytic lymphoma | MONDO:0000432 +BMGC_DS05616,BMG_DS014744,intravascular large B-cell lymphoma | MONDO:0020324 | UMLS ID:C0334660 +BMGC_DS05617,BMG_DS014745,MONDO:0019479 | UMLS ID:C0334663 | histiocytic sarcoma +BMGC_DS05618,BMG_DS014746,UMLS ID:C0334664 | DOID:3664 | MONDO:0002724 | mast cell neoplasm +BMGC_DS05619,BMG_DS014749,MONDO:0002395 | renal adenoma | UMLS ID:C0334684 | DOID:2697 +BMGC_DS05620,BMG_DS014750,endometrial stromal tumor | DOID:5166 | MONDO:0003311 | UMLS ID:C0334695 +BMGC_DS05621,BMG_DS014751,malignant myoepithelioma | DOID:4838 | myoepithelial carcinoma | UMLS ID:C0334699 | MONDO:0003158 +BMGC_DS05622,BMG_DS014752,UMLS ID:C0338070 | childhood cerebral astrocytoma | DOID:7007 | MONDO:0004071 +BMGC_DS05623,BMG_DS014753,MONDO:0017825 | functionless pituitary adenoma | DOID:5715 | UMLS ID:C0338078 | silent pituitary adenoma +BMGC_DS05624,BMG_DS014754,UMLS ID:C0338106 | DOID:234 | MONDO:0002271 | colon adenocarcinoma +BMGC_DS05625,BMG_DS014755,DOID:5165 | uterine corpus sarcoma | UMLS ID:C0338113 | MONDO:0005210 +BMGC_DS05626,BMG_DS014767,"MeSH ID:D020814 | MONDO:0006753 | Escherichia coli meningitis | UMLS ID:C0338395 | Meningitis, Escherichia coli" +BMGC_DS05627,BMG_DS014768,Proteus meningitis | UMLS ID:C0338396 | Proteus meningitis (disorder) | SNOMEDCT ID:302877009 +BMGC_DS05628,BMG_DS014785,"Encephalitis, Acute Necrotizing | UMLS ID:C0338418 | MeSH ID:D004684 | Leukoencephalitis, Acute Hemorrhagic | DOID:5222 | MONDO:0003336 | acute necrotizing encephalitis" +BMGC_DS05629,BMG_DS014794,DOID:0080741 | limbic encephalitis | UMLS ID:C0338430 | Limbic Encephalitis | MONDO:0015588 | MeSH ID:D020363 +BMGC_DS05630,BMG_DS014799,SNOMEDCT ID:230215006 | MeSH ID:D020019 | Neurocysticercosis | Cerebral cysticercosis | UMLS ID:C0338437 | Cerebral cysticercosis (disorder) +BMGC_DS05631,BMG_DS014809,Frontotemporal dementia (disorder) | frontotemporal dementia | UMLS ID:C0338451 | Frontotemporal dementia | SNOMEDCT ID:230270009 | Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | DOID:0060672 | ICD10 ID:G31.0 | OMIM ID:MTHU003256 | ICD11 ID:8E4Y | Other specified disorders of the nervous system | MONDO:0017276 +BMGC_DS05632,BMG_DS014818,OMIM ID:600274 | semantic dementia | MONDO:0010857 | UMLS ID:C0338462 +BMGC_DS05633,BMG_DS014822,"MeSH ID:D013981 | Tic Disorders, Vocal | UMLS ID:C0338468 | Tic Disorders" +BMGC_DS05634,BMG_DS014825,UMLS ID:C0338473 | MONDO:0002283 | MeSH ID:D019150 | Neuroaxonal Dystrophies | DOID:2367 | neuroaxonal dystrophy +BMGC_DS05635,BMG_DS014827,"MeSH ID:D004831 | UMLS ID:C0338478 | Epilepsies, Myoclonic | Idiopathic Myoclonic Epilepsy" +BMGC_DS05636,BMG_DS014828,"Symptomatic Myoclonic Epilepsy | UMLS ID:C0338479 | MeSH ID:D004831 | Epilepsies, Myoclonic" +BMGC_DS05637,BMG_DS014829,UMLS ID:C0338480 | Common Migraine | Migraine without Aura | migraine without aura | DOID:12783 | MeSH ID:D020326 | MONDO:0100431 +BMGC_DS05638,BMG_DS014831,Migraine with Aura | MeSH ID:D020325 | Migraine with Prolonged Aura | UMLS ID:C0338483 +BMGC_DS05639,BMG_DS014832,MONDO:0000700 | Migraine with Aura | familial hemiplegic migraine | UMLS ID:C0338484 | MeSH ID:D020325 | Familial Hemiplegic Migraine +BMGC_DS05640,BMG_DS014833,MeSH ID:D020325 | Migraine with Aura | Migraine Aura without Headache | UMLS ID:C0338486 +BMGC_DS05641,BMG_DS014835,alternating hemiplegia of childhood | MONDO:0016241 | Alternating hemiplegia of childhood | UMLS ID:C0338488 | Alternating hemiplegia of childhood (disorder) | MeSH ID:C536589 | SNOMEDCT ID:230466004 | DOID:0050635 +BMGC_DS05642,BMG_DS014836,UMLS ID:C0338489 | MeSH ID:D008881 | Status Migrainosus | Migraine Disorders +BMGC_DS05643,BMG_DS014838,"mixed sleep apnea | DOID:0080302 | MONDO:0024358 | MeSH ID:D012891 | complex sleep apnea | Sleep Apnea, Mixed Central and Obstructive | Sleep Apnea Syndromes | UMLS ID:C0338495" +BMGC_DS05644,BMG_DS014844,DOID:0111531 | bilateral optic nerve hypoplasia | UMLS ID:C0338502 | MeSH ID:D000080344 | Optic Nerve Hypoplasia +BMGC_DS05645,BMG_DS014845,DOID:0060857 | MONDO:0008428 | UMLS ID:C0338503 | septooptic dysplasia | Septo-Optic Dysplasia | MeSH ID:D025962 | OMIM ID:182230 +BMGC_DS05646,BMG_DS014849,"autosomal dominant optic atrophy, classic form | Optic Atrophy 1 | MeSH ID:D029241 | MONDO:0008134 | Optic Atrophy, Autosomal Dominant | UMLS ID:C0338508 | OMIM ID:165500" +BMGC_DS05647,BMG_DS014873,Ulnar Neuritis | Ulnar Neuropathies | UMLS ID:C0338538 | MeSH ID:D020424 +BMGC_DS05648,BMG_DS014888,Thrombosis of intracranial venous sinus | SNOMEDCT ID:192759008 | Cerebral venous sinus thrombosis | UMLS ID:C0338573 | Cerebral venous sinus thrombosis (disorder) +BMGC_DS05649,BMG_DS014890,sagittal sinus thrombosis | UMLS ID:C0338575 | MeSH ID:D020225 | Sagittal Sinus Thrombosis | MONDO:0002695 | DOID:3576 +BMGC_DS05650,BMG_DS014895,Sporadic Cerebral Amyloid Angiopathy | MeSH ID:D016657 | UMLS ID:C0338582 | Cerebral Amyloid Angiopathy +BMGC_DS05651,BMG_DS014896,Dissection of carotid artery | SNOMEDCT ID:720626009 | carotid artery dissection | Carotid artery dissection | ICD10 ID:I77.71 | Carotid artery dissection (disorder) | MONDO:0004763 | DOID:9348 | UMLS ID:C0338585 | SNOMEDCT ID:230729006 | Dissection of carotid artery (disorder) +BMGC_DS05652,BMG_DS014902,MONDO:0001617 | transient global amnesia | UMLS ID:C0338591 | DOID:13027 +BMGC_DS05653,BMG_DS014905,Little's disease | Pyramidal cerebral palsy | Spastic cerebral palsy | Congenital spastic paralysis | OMIM ID:MTHU033921 | UMLS ID:C0338596 | SNOMEDCT ID:192959001 | spastic cerebral palsy | SNOMEDCT ID:230773005 | Congenital spastic cerebral palsy | Infantile spastic cerebral palsy | MONDO:0000396 | Spastic infantile paralysis | Spastic cerebral palsy (disorder) +BMGC_DS05654,BMG_DS014923,"Catatonia | Catatonia, Organic | UMLS ID:C0338650 | MeSH ID:D002389" +BMGC_DS05655,BMG_DS014943,UMLS ID:C0338908 | MONDO:0041086 | mixed anxiety and depressive disorder +BMGC_DS05656,BMG_DS014977,MONDO:0007198 | Ascher syndrome | OMIM ID:109900 | MeSH ID:C562742 | UMLS ID:C0339085 | Blepharochalasis And Double Lip +BMGC_DS05657,BMG_DS014984,MONDO:0000928 | malignant eyelid melanoma | UMLS ID:C0339116 | DOID:10040 | eyelid melanoma +BMGC_DS05658,BMG_DS014987,secondary lacrimal atrophy | DOID:1822 | UMLS ID:C0339121 | MONDO:0002124 +BMGC_DS05659,BMG_DS014988,UMLS ID:C0339124 | lacrimal gland neoplasm | lacrimal gland cancer | DOID:294 | MONDO:0021222 +BMGC_DS05660,BMG_DS014991,SNOMEDCT ID:302900006 | Acute inflammation of lacrimal passages (disorder) | UMLS ID:C0339129 | DOID:6970 | MONDO:0004055 | acute inflammation of lacrimal passage | Acute inflammation of lacrimal passages +BMGC_DS05661,BMG_DS014992,SNOMEDCT ID:84399007 | Acute canaliculitis | DOID:6969 | Acute lacrimal canaliculitis | MONDO:0004054 | UMLS ID:C0339130 | acute canaliculitis | Acute lacrimal canaliculitis (disorder) | ICD10 ID:H04.33 +BMGC_DS05662,BMG_DS014999,MeSH ID:D049970 | Graves Ophthalmopathy | UMLS ID:C0339143 | Graves ophthalmopathy | DOID:0081120 +BMGC_DS05663,BMG_DS015012,Fungal conjunctivitis | Fungal conjunctivitis (disorder) | SNOMEDCT ID:231862003 | UMLS ID:C0339170 +BMGC_DS05664,BMG_DS015031,Neurotrophic corneal ulcer | Neuropathic corneal ulcer (disorder) | Neuropathic corneal ulcer | Neuroparalytic keratitis | UMLS ID:C0339223 | SNOMEDCT ID:231901007 +BMGC_DS05665,BMG_DS015051,"OMIM ID:204870 | Corneal dystrophy, Lattice type 3 | UMLS ID:C0339273 | DOID:0060449 | MeSH ID:C535480 | MONDO:0008777 | gelatinous drop-like corneal dystrophy" +BMGC_DS05666,BMG_DS015052,"Corneal Dystrophy, Juvenile Epithelial of Meesmann | DOID:0060451 | MONDO:0007379 | UMLS ID:C0339277 | Meesmann corneal dystrophy | MeSH ID:D053559" +BMGC_DS05667,BMG_DS015053,UMLS ID:C0339278 | CDB type I corneal dystrophy | Reis-Bucklers' corneal dystrophy | MONDO:0012043 | DOID:0060453 | Reis-Bucklers' corneal dystrophy (disorder) | SNOMEDCT ID:231930000 | Reis-Bucklers corneal dystrophy | OMIM ID:608470 +BMGC_DS05668,BMG_DS015055,posterior polymorphous corneal dystrophy | SNOMEDCT ID:29504002 | Polymorphous corneal dystrophy | MONDO:0020364 | Posterior polymorphous corneal dystrophy (disorder) | UMLS ID:C0339284 +BMGC_DS05669,BMG_DS015056,acute hydrops keratoconus | DOID:10125 | Acute hydrops of the cornea | Acute hydrops keratoconus (disorder) | MONDO:0000943 | SNOMEDCT ID:111523009 | UMLS ID:C0339286 | Acute hydrops keratoconus +BMGC_DS05670,BMG_DS015058,DOID:9461 | MONDO:0004794 | Exposure keratoconjunctivitis (disorder) | UMLS ID:C0339295 | SNOMEDCT ID:14366000 | exposure keratitis | Exposure keratitis | Exposure keratopathy | Lagophthalmic keratitis | Exposure keratoconjunctivitis | ICD10 ID:H16.21 +BMGC_DS05671,BMG_DS015059,Neurotrophic keratitis | SNOMEDCT ID:128080005 | Anesthetic keratopathy | MONDO:0015290 | Anaesthetic keratopathy | Neurotrophic keratitis (disorder) | UMLS ID:C0339296 | Neurotrophic keratopathy | Neuroparalytic keratopathy | OMIM ID:MTHU010597 | neurotrophic keratopathy +BMGC_DS05672,BMG_DS015063,MONDO:0021238 | cornea neoplasm | cornea cancer | DOID:6199 | UMLS ID:C0339304 +BMGC_DS05673,BMG_DS015071,MONDO:0017634 | Non-infectious anterior uveitis | Non-infectious anterior uveitis (disorder) | SNOMEDCT ID:267619000 | UMLS ID:C0339317 | non-infectious anterior uveitis +BMGC_DS05674,BMG_DS015072,UMLS ID:C0339320 | ICD10 ID:H20.2 | ICD11 ID:9A96.Y | Lens-induced iridocyclitis (disorder) | Lens-induced iridocyclitis | SNOMEDCT ID:70461003 | DOID:9388 | MONDO:0004775 | lens-induced iridocyclitis | Other specified anterior uveitis +BMGC_DS05675,BMG_DS015077,ciliary body neoplasm | ciliary body cancer | DOID:4352 | MONDO:0021229 | UMLS ID:C0339349 +BMGC_DS05676,BMG_DS015092,MONDO:0001393 | UMLS ID:C0339394 | Peripheral focal chorioretinitis | peripheral focal chorioretinitis | Peripheral focal choroiditis AND chorioretinitis | Peripheral focal choroiditis AND chorioretinitis (disorder) | SNOMEDCT ID:56787009 | DOID:11864 +BMGC_DS05677,BMG_DS015112,MONDO:0004890 | Partial central dystrophy of choroid | Circinate choroidal dystrophy | Partial central choroid dystrophy | UMLS ID:C0339427 | partial central choroid dystrophy | SNOMEDCT ID:193468002 | Partial central choroid dystrophy (disorder) | DOID:9822 +BMGC_DS05678,BMG_DS015117,MONDO:0002175 | UMLS ID:C0339436 | DOID:2007 | degeneration of macula and posterior pole +BMGC_DS05679,BMG_DS015118,Other retinal disorders | Other retinal disorders &/or retinal haemorrhage | SNOMEDCT ID:193348007 | SNOMEDCT ID:267715002 | SNOMEDCT ID:155115009 | SNOMEDCT ID:193418005 | Other retinal disorders &/or retinopathies | Other retinal disorders &/or retinal hemorrhage | Other retinal disorders (disorder) | Retinopathies | Haemorrhage - retinal | Other retinal disorders &/or retinopathies (disorder) | Other retinal disorders &/or retinal haemorrhage (disorder) | UMLS ID:C0339438 | ICD10 ID:H35 | Hemorrhage - retinal +BMGC_DS05680,BMG_DS015147,UMLS ID:C0339498 | MONDO:0041093 | central retinal vein occlusion with macular edema +BMGC_DS05681,BMG_DS015152,DOID:0050661 | Vitelliform Macular Dystrophy | MONDO:0000390 | vitelliform macular dystrophy | UMLS ID:C0339510 | MeSH ID:D057826 +BMGC_DS05682,BMG_DS015154,MONDO:0018998 | Leber Congenital Amaurosis | MeSH ID:D057130 | UMLS ID:C0339527 | Leber congenital amaurosis | DOID:14791 +BMGC_DS05683,BMG_DS015157,MONDO:0016484 | Usher syndrome type 2 (disorder) | Usher syndrome type 2 | UMLS ID:C0339534 | SNOMEDCT ID:232058008 +BMGC_DS05684,BMG_DS015158,UMLS ID:C0339535 | MONDO:0016293 | congenital stationary night blindness +BMGC_DS05685,BMG_DS015159,MONDO:0010563 | UMLS ID:C0339537 | blue cone monochromacy | OMIM ID:303700 +BMGC_DS05686,BMG_DS015160,exudative vitreoretinopathy | UMLS ID:C0339539 | Familial Exudative Vitreoretinopathies | MeSH ID:D000080345 | MONDO:0019516 +BMGC_DS05687,BMG_DS015161,MONDO:0100289 | UMLS ID:C0339541 | Goldmann-Favre syndrome | Goldmann-Favre syndrome (disorder) | Retinoschisis with early nyctalopia | SNOMEDCT ID:232065000 | Enhanced S-cone syndrome +BMGC_DS05688,BMG_DS015163,MONDO:0002174 | preretinal fibrosis | UMLS ID:C0339543 | DOID:2006 +BMGC_DS05689,BMG_DS015164,Retinal Pigment Epithelial Detachment | UMLS ID:C0339546 | Retinal Detachment | MeSH ID:D012163 +BMGC_DS05690,BMG_DS015168,MONDO:0004349 | DOID:774 | retina lymphoma | UMLS ID:C0339556 +BMGC_DS05691,BMG_DS015179,MONDO:0001996 | steroid-induced glaucoma - borderline | DOID:14548 | UMLS ID:C0339572 +BMGC_DS05692,BMG_DS015180,"Glaucoma, Primary Open Angle | MeSH ID:D005902 | OMIM ID:137760 | OPTN-related open angle glaucoma | UMLS ID:C0339573 | Glaucoma, Open-Angle | primary open angle glaucoma | DOID:1070 | MONDO:0100553" +BMGC_DS05693,BMG_DS015184,Corticosteroid-induced glaucoma | Steroid responder open angle glaucoma | MONDO:0004930 | Corticosteroid-induced open angle glaucoma | UMLS ID:C0339578 | SNOMEDCT ID:1654001 | Open angle glaucoma caused by corticosteroid (disorder) | DOID:9946 | Open angle glaucoma caused by corticosteroid | steroid-induced glaucoma +BMGC_DS05694,BMG_DS015186,residual stage corticosteroid-induced glaucoma | UMLS ID:C0339580 | MONDO:0004931 | DOID:9948 +BMGC_DS05695,BMG_DS015197,Glaucoma due to ocular trauma (disorder) | UMLS ID:C0339594 | Traumatic glaucoma | DOID:13060 | MONDO:0001626 | SNOMEDCT ID:68241007 | traumatic glaucoma | Glaucoma due to ocular trauma +BMGC_DS05696,BMG_DS015206,UMLS ID:C0339611 | Monofixation syndrome | SNOMEDCT ID:14785004 | Monofixation syndrome (disorder) | ICD10 ID:H50.42 | MONDO:0004899 | monofixation syndrome | DOID:9843 +BMGC_DS05697,BMG_DS015217,Primary Esotropia | MeSH ID:D004948 | Esotropia | UMLS ID:C0339623 +BMGC_DS05698,BMG_DS015218,MeSH ID:D004948 | UMLS ID:C0339624 | Secondary Esotropia | Esotropia +BMGC_DS05699,BMG_DS015262,Astigmatism | Corneal Astigmatism | MeSH ID:D001251 | UMLS ID:C0339682 +BMGC_DS05700,BMG_DS015263,UMLS ID:C0339683 | Lenticular Astigmatism | MeSH ID:D001251 | Astigmatism +BMGC_DS05701,BMG_DS015270,Amblyopia | UMLS ID:C0339696 | Anisometropic Amblyopia | MeSH ID:D000550 +BMGC_DS05702,BMG_DS015274,"Blindness, Acquired | Blindness | UMLS ID:C0339730 | MeSH ID:D001766" +BMGC_DS05703,BMG_DS015283,"UMLS ID:C0339767 | Otitis media with effusion - purulent | Chronic otitis media with effusion, purulent | Chronic secretory otitis media, purulent | Chronic purulent otitis media | Chronic purulent otitis media (disorder) | CSOM - Chronic suppurative otitis media | Chronic suppurative otitis media | SNOMEDCT ID:38394007 | Chronic otitis media with perforation" +BMGC_DS05704,BMG_DS015289,Congenital deafness (disorder) | OMIM ID:MTHU078470 | Congenital deafness | SNOMEDCT ID:95828007 | UMLS ID:C0339789 +BMGC_DS05705,BMG_DS015312,UMLS ID:C0339820 | nasal cavity disorder | DOID:2163 | nasal cavity disease | SNOMEDCT ID:232340005 | Disorder of nasal cavity (disorder) | MONDO:0002232 | Disorder of nasal cavity +BMGC_DS05706,BMG_DS015331,"UMLS ID:C0339851 | nasal bones, absence of | OMIM ID:161480 | MONDO:0008064" +BMGC_DS05707,BMG_DS015357,pulmonary systemic sclerosis | DOID:1578 | Lung disease with systemic sclerosis (disorder) | SNOMEDCT ID:196133001 | MONDO:0002047 | Scleroderma of lung | UMLS ID:C0339904 | Lung disease with systemic sclerosis | Scleroderma lung disease +BMGC_DS05708,BMG_DS015375,SNOMEDCT ID:195722003 | Acute Neisseria catarrhalis bronchitis | Acute Moraxella catarrhalis bronchitis | Acute Moraxella catarrhalis bronchitis (disorder) | UMLS ID:C0339932 +BMGC_DS05709,BMG_DS015376,UMLS ID:C0339933 | Acute bacterial bronchitis | SNOMEDCT ID:233598009 | Acute bacterial bronchitis (disorder) +BMGC_DS05710,BMG_DS015383,Pneumonia with tularaemia | MONDO:0002212 | Pneumonic tularaemia | Other specified tularaemia | Pulmonary tularaemia | Tularaemia pneumonia | SNOMEDCT ID:186297007 | UMLS ID:C0339946 | Pulmonary tularemia (disorder) | Pneumonia with tularemia | DOID:2122 | Bronchopneumonic tularemia | pneumonic tularemia | SNOMEDCT ID:45556008 | ICD11 ID:1B94.Y | ICD10 ID:A21.2 | Pulmonary tularemia | Pneumonic tularemia | Bronchopneumonic tularaemia | Tularemia pneumonia +BMGC_DS05711,BMG_DS015390,SNOMEDCT ID:195897008 | Chlamydial pneumonia (disorder) | DOID:0040083 | Pneumonia due to Chlamydophila pneumoniae | pneumonia caused by chlamydia | Pneumonia caused by Chlamydiaceae (disorder) | ICD10 ID:J16.0 | Pneumonia caused by Chlamydiaceae | MONDO:0025598 | Chlamydial pneumonia | SNOMEDCT ID:233609002 | Chlamydia pneumonia | UMLS ID:C0339959 | ICD11 ID:CA40.00 +BMGC_DS05712,BMG_DS015399,Neonatal pneumonia | Neonatal pneumonia (disorder) | UMLS ID:C0339968 | SNOMEDCT ID:233619008 +BMGC_DS05713,BMG_DS015411,Idiopathic bronchiectasis | SNOMEDCT ID:233629001 | MONDO:0018956 | idiopathic bronchiectasis | UMLS ID:C0339985 | Idiopathic bronchiectasis (disorder) +BMGC_DS05714,BMG_DS015432,MONDO:0011331 | OMIM ID:603523 | UMLS ID:C0340014 | congenital chylothorax +BMGC_DS05715,BMG_DS015448,"Immotile cilia syndrome, due to defective radial spokes | ciliary dyskinesia with defective radial spokes | MeSH ID:C536286 | UMLS ID:C0340035 | OMIM ID:242670 | MONDO:0009449" +BMGC_DS05716,BMG_DS015450,OMIM ID:279000 | Young Syndrome | Young syndrome | MONDO:0010220 | UMLS ID:C0340037 | MeSH ID:C536718 +BMGC_DS05717,BMG_DS015451,ciliary discoordination due to random ciliary orientation | MeSH ID:C562757 | UMLS ID:C0340038 | OMIM ID:215518 | MONDO:0008984 | Ciliary Discoordination Due To Random Ciliary Orientation +BMGC_DS05718,BMG_DS015455,Acute exacerbation of chronic obstructive airways disease | Acute exacerbation of chronic obstructive pulmonary disease (disorder) | Acute exacerbation of chronic obstructive pulmonary disease | UMLS ID:C0340044 | SNOMEDCT ID:195951007 | Acute exacerbation of COPD (chronic obstructive pulmonary disease) +BMGC_DS05719,BMG_DS015469,SNOMEDCT ID:195967001 | Bronchial asthma | Asthma (disorder) | UMLS ID:C0340062 | Bronchial hypersensitivity | Bronchial hyperresponsiveness | BHR - Bronchial hyperreactivity | Asthmatic | Hyperreactive airway disease | Airway hyperreactivity | Bronchial hyperreactivity | Asthma +BMGC_DS05720,BMG_DS015491,MeSH ID:D060586 | Summer-Type Hypersensitivity Pneumonitis | DOID:0050290 | UMLS ID:C0340092 | trichosporonosis | Trichosporonosis +BMGC_DS05721,BMG_DS015498,UMLS ID:C0340100 | Pulmonary edema of mountaineers | high altitude pulmonary edema | High altitude pulmonary edema | High altitude pulmonary oedema | Pulmonary oedema of mountaineers | MONDO:0031257 | SNOMEDCT ID:233707008 | High altitude pulmonary edema (disorder) +BMGC_DS05722,BMG_DS015517,Localised pulmonary fibrosis | Localized pulmonary fibrosis (disorder) | UMLS ID:C0340127 | localized pulmonary fibrosis | MONDO:0003564 | Localized pulmonary fibrosis | SNOMEDCT ID:233726000 | DOID:5642 +BMGC_DS05723,BMG_DS015555,DOID:10321 | Baritosis (disorder) | Barium lung disease | MeSH ID:C537080 | Barium lung | SNOMEDCT ID:50076003 | Barium pneumoconiosis | UMLS ID:C0340177 | Baritosis | Barytosis | baritosis | MONDO:0001001 | Baryta miners' disease +BMGC_DS05724,BMG_DS015562,Mixed dust fibrosis | MONDO:0001000 | DOID:10319 | Mixed mineral dust pneumoconiosis | Mixed mineral dust pneumoconiosis (disorder) | UMLS ID:C0340184 | SNOMEDCT ID:233759002 | mixed mineral dust pneumoconiosis +BMGC_DS05725,BMG_DS015564,slate pneumoconiosis | Slate-workers' lung | MONDO:0001004 | Schistosis (disorder) | UMLS ID:C0340186 | DOID:10330 | SNOMEDCT ID:1259003 | Slate pneumoconiosis | Schistosis | Slate workers pneumoconiosis +BMGC_DS05726,BMG_DS015571,Respiratory Insufficiency | MeSH ID:D012131 | Hypoxemic Respiratory Failure | UMLS ID:C0340194 +BMGC_DS05727,BMG_DS015619,(Cardiomegaly) or (ventricular hypertrophy (& left)) | Ventricular hypertrophy (& [left]) | OMIM ID:MTHU005304 | Ventricular hypertrophy | Left ventricular hypertrophy | SNOMEDCT ID:195127003 | SNOMEDCT ID:155383002 | (Cardiomegaly) or (ventricular hypertrophy (& left)) (disorder) | Cardiomegaly | SNOMEDCT ID:266310003 | SNOMEDCT ID:266249003 | Ventricular hypertrophy (disorder) | Ventricular hypertrophy (& [left]) (disorder) | UMLS ID:C0340279 +BMGC_DS05728,BMG_DS015623,Stable angina | SNOMEDCT ID:194838005 | Stable angina (disorder) | SNOMEDCT ID:155312003 | UMLS ID:C0340288 | SNOMEDCT ID:233819005 | ICD10 ID:I20.89 +BMGC_DS05729,BMG_DS015634,UMLS ID:C0340305 | DOID:5850 | MONDO:0006803 | inferior myocardial infarction | MeSH ID:D056989 | Inferior Wall Myocardial Infarction +BMGC_DS05730,BMG_DS015641,MONDO:0003677 | lateral myocardial infarction | UMLS ID:C0340312 | DOID:5853 +BMGC_DS05731,BMG_DS015648,UMLS ID:C0340319 | posterior myocardial infarction | MONDO:0003672 | DOID:5847 +BMGC_DS05732,BMG_DS015649,Thrombosis - coronary | MONDO:0003678 | MI - acute myocardial infarction | Acute myocardial infarction | Silent myocardial infarction (disorder) | UMLS ID:C0340324 | (Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) | Coronary thrombosis | SNOMEDCT ID:233843008 | MI - Acute myocardial infarction | silent myocardial infarction | SNOMEDCT ID:194796000 | Silent myocardial infarction | (Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) (disorder) | DOID:5854 | Cardiac rupture following myocardial infarction (MI) | MI - Silent myocardial infarction | Cardiac rupture after acute myocardial infarction | Attack - heart | Heart attack +BMGC_DS05733,BMG_DS015662,Q fever endocarditis (disorder) | Q fever endocarditis | UMLS ID:C0340354 | SNOMEDCT ID:95890006 | Cardiac Q fever | Endocarditis - Q fever +BMGC_DS05734,BMG_DS015670,MONDO:0008004 | UMLS ID:C0340364 | familial mitral valve prolapse +BMGC_DS05735,BMG_DS015678,DOID:5805 | SNOMEDCT ID:204368006 | MONDO:0006987 | Subaortic stenosis (disorder) | Subvalvular stenosis | UMLS ID:C0340375 | Subvalvar stenosis | subvalvular aortic stenosis | OMIM ID:MTHU017461 | Subaortic stenosis | SNOMEDCT ID:250915007 +BMGC_DS05736,BMG_DS015707,SNOMEDCT ID:52029003 | familial dilated cardiomyopathy | MONDO:0016333 | Primary familial dilated cardiomyopathy (disorder) | Primary familial dilated cardiomyopathy | UMLS ID:C0340427 | Familial dilated cardiomyopathy +BMGC_DS05737,BMG_DS015709,MONDO:0016340 | familial restrictive cardiomyopathy | UMLS ID:C0340429 +BMGC_DS05738,BMG_DS015730,"Premature Cardiac Complex | Cardiac Complexes, Premature | MeSH ID:D005117 | UMLS ID:C0340464" +BMGC_DS05739,BMG_DS015744,"UMLS ID:C0340485 | Polymorphic Catecholaminergic Ventricular Tachycardia | ventricular tachycardia, familial | MONDO:0008648 | OMIM ID:192605 | Familial Polymorphic Ventricular Tachycardia | MeSH ID:D000098850" +BMGC_DS05740,BMG_DS015750,SNOMEDCT ID:233913007 | Familial sick sinus syndrome (disorder) | UMLS ID:C0340491 | Familial sick sinus syndrome | MONDO:0012061 | familial sick sinus syndrome +BMGC_DS05741,BMG_DS015751,MeSH ID:C537182 | Paroxysmal familial ventricular fibrillation (disorder) | MONDO:0100234 | paroxysmal familial ventricular fibrillation | UMLS ID:C0340493 | SNOMEDCT ID:233915000 | Paroxysmal familial ventricular fibrillation +BMGC_DS05742,BMG_DS015752,ICD10 ID:I45 | Other conduction disorders (disorder) | UMLS ID:C0340494 | Other conduction disorders | SNOMEDCT ID:195062005 +BMGC_DS05743,BMG_DS015755,"OMIM ID:113950 | MONDO:0007241 | bundle branch block, familial isolated complete right | Bundle Branch Block, Familial Isolated Complete Right | UMLS ID:C0340504 | MeSH ID:C562759" +BMGC_DS05744,BMG_DS015773,Familial primary pulmonary hypertension (disorder) | MONDO:0017148 | Familial primary pulmonary hypertension | SNOMEDCT ID:233944003 | heritable pulmonary arterial hypertension | UMLS ID:C0340543 +BMGC_DS05745,BMG_DS015774,Pulmonary hypertension caused by drug | Drug-induced pulmonary hypertension | drug- or toxin-induced pulmonary arterial hypertension | UMLS ID:C0340544 | MONDO:0017149 | SNOMEDCT ID:233945002 | Pulmonary arterial hypertension caused by drug | Pulmonary hypertension caused by drug (disorder) | Pulmonary arterial hypertension induced by drug +BMGC_DS05746,BMG_DS015777,UMLS ID:C0340548 | SNOMEDCT ID:233949008 | Pulmonary capillary hemangiomatosis | Pulmonary capillary hemangiomatosis (disorder) | Pulmonary capillary haemangiomatosis | OMIM ID:MTHU041934 +BMGC_DS05747,BMG_DS015781,"Pulmonary hypertension caused by low air pressure due to chronic exposure to high altitude | High altitude pulmonary hypertension | MeSH ID:C535833 | OMIM ID:178400 | UMLS ID:C0340552 | 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" +BMGC_DS05748,BMG_DS015791,Internal Carotid Artery Stenosis | Carotid Stenosis | UMLS ID:C0340569 | MeSH ID:D016893 | MONDO:0005189 | internal carotid artery stenosis +BMGC_DS05749,BMG_DS015806,Thrombosis of renal artery | SNOMEDCT ID:95579008 | UMLS ID:C0340608 | Thrombosis of renal artery (disorder) | Renal artery thrombosis +BMGC_DS05750,BMG_DS015813,MeSH ID:D020759 | Anterior Spinal Artery Syndrome | UMLS ID:C0340642 | Anterior Spinal Artery Dissection +BMGC_DS05751,BMG_DS015814,"ICD11 ID:BD50.Z | SNOMEDCT ID:308546005 | UMLS ID:C0340643 | Aortic aneurysm or dissection, unspecified | ICD10 ID:I71.0 | Dissection of aorta | Dissection of aorta (disorder)" +BMGC_DS05752,BMG_DS015898,capillary malformation | MONDO:0016231 | UMLS ID:C0340803 +BMGC_DS05753,BMG_DS015899,UMLS ID:C0340804 | Capillary fragility - hereditary | SNOMEDCT ID:191329002 | Hereditary vascular fragility | Hereditary vascular fragility (disorder) +BMGC_DS05754,BMG_DS015900,MONDO:0010067 | splenoportal vascular anomalies | OMIM ID:271500 | UMLS ID:C0340826 +BMGC_DS05755,BMG_DS015901,"Hennekam lymphangiectasia-lymphedema syndrome (disorder) | Lymphoedema, lymphangiectasia, intellectual disability syndrome | SNOMEDCT ID:234146006 | Hennekam lymphangiectasia-lymphoedema syndrome | Hennekam lymphangiectasia-lymphedema syndrome | MONDO:0016256 | DOID:0060366 | Lymphedema, lymphangiectasia, intellectual disability syndrome | Hennekam syndrome | UMLS ID:C0340834" +BMGC_DS05756,BMG_DS015903,"DOID:0081269 | MONDO:0009329 | OMIM ID:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE | pulmonary venoocclusive disease 2 | UMLS ID:C0340848" +BMGC_DS05757,BMG_DS015907,"UMLS ID:C0340854 | Syncope | MeSH ID:D013575 | Syncope, Situational" +BMGC_DS05758,BMG_DS015908,"Syncope | MeSH ID:D013575 | Syncope, Micturition | UMLS ID:C0340855" +BMGC_DS05759,BMG_DS015981,Deficiency of phosphoenolpyruvate kinase | Deficiency of pyruvate kinase (disorder) | Deficiency of pyruvate kinase | OMIM ID:266200 | pyruvate kinase deficiency of red cells | Deficiency of phosphoenol transphosphorylase | Pyruvate kinase deficiency | MONDO:0009950 | SNOMEDCT ID:124331002 | UMLS ID:C0340968 | PK - Pyruvate kinase deficiency +BMGC_DS05760,BMG_DS015997,DOID:11736 | SNOMEDCT ID:196305005 | Odontoclasia | odontoclasia | Odontoclasia (disorder) | MONDO:0001349 | UMLS ID:C0341004 +BMGC_DS05761,BMG_DS016006,SNOMEDCT ID:110267003 | Streptococcal infection of mouth | Streptococcal infection of mouth (disorder) | UMLS ID:C0341016 | Streptococcal stomatitis +BMGC_DS05762,BMG_DS016013,"FCMC - Familial chronic mucocutaneous candidiasis | Familial chronic mucocutaneous candidosis | SNOMEDCT ID:235073000 | OMIM ID:613108 | MeSH ID:C537979 | FCMC - Familial chronic mucocutaneous candidosis | Familial chronic mucocutaneous candidiasis (disorder) | MONDO:0013140 | Familial chronic mucocutaneous candidiasis | UMLS ID:C0341024 | candidiasis, familial, 4" +BMGC_DS05763,BMG_DS016038,SNOMEDCT ID:235599003 | Eosinophilic esophagitis (disorder) | Eosinophilic oesophagitis | Eosinophilic esophagitis | ICD10 ID:K20.0 | DOID:13922 | MONDO:0005361 | eosinophilic esophagitis | OMIM ID:MTHU054726 | UMLS ID:C0341106 +BMGC_DS05764,BMG_DS016040,bacterial esophagitis | UMLS ID:C0341108 | MONDO:0001832 | DOID:13921 | SNOMEDCT ID:235601001 | Bacterial esophagitis | Bacterial esophagitis (disorder) | Bacterial oesophagitis +BMGC_DS05765,BMG_DS016041,fungal esophagitis | Fungal oesophagitis | Fungal esophagitis (disorder) | MONDO:0001649 | UMLS ID:C0341109 | Fungal esophagitis | SNOMEDCT ID:235602008 | DOID:13147 +BMGC_DS05766,BMG_DS016042,UMLS ID:C0341110 | Viral esophagitis | SNOMEDCT ID:235603003 | viral esophagitis | Viral oesophagitis | Viral esophagitis (disorder) | MONDO:0003846 | DOID:6297 +BMGC_DS05767,BMG_DS016065,"UMLS ID:C0341137 | esophageal ring, lower | OMIM ID:133240 | Esophageal Ring, Lower | MeSH ID:C562765 | MONDO:0007577" +BMGC_DS05768,BMG_DS016182,MeSH ID:C537470 | Microvillus inclusion disease | microvillus inclusion disease | UMLS ID:C0341306 | DOID:0060775 | MONDO:0009635 | OMIM ID:251850 +BMGC_DS05769,BMG_DS016197,Indeterminate colitis | indeterminate colitis | ICD10 ID:K52.3 | UMLS ID:C0341332 | MONDO:0006038 | Indeterminate colitis (disorder) | ICD11 ID:DD72 | SNOMEDCT ID:235746007 +BMGC_DS05770,BMG_DS016200,Cytomegalovirus Infections | MeSH ID:D003586 | UMLS ID:C0341335 | Cytomegalovirus Colitis +BMGC_DS05771,BMG_DS016274,UMLS ID:C0341486 | MONDO:0002809 | DOID:3918 | pancreatic cystadenoma +BMGC_DS05772,BMG_DS016284,Bacterial peritonitis (disorder) | septic peritonitis | UMLS ID:C0341503 | MONDO:0005195 | Bacterial peritonitis | SNOMEDCT ID:197171003 +BMGC_DS05773,BMG_DS016299,UMLS ID:C0341558 | Enteric colibacillosis | SNOMEDCT ID:111839008 | Escherichia gastroenteritis | Intestinal infection caused by E. coli | Intestinal infection caused by Escherichia coli | Intestinal infection caused by Escherichia coli (disorder) | Escherichia coli gastrointestinal tract infection +BMGC_DS05774,BMG_DS016339,UMLS ID:C0341677 | MONDO:0001343 | impaired renal function disease +BMGC_DS05775,BMG_DS016347,SNOMEDCT ID:197585004 | DOID:14066 | MONDO:0001871 | Acute diffuse nephritis (disorder) | acute diffuse glomerulonephritis | acute diffuse nephritis | UMLS ID:C0341689 | Acute diffuse nephritis +BMGC_DS05776,BMG_DS016350,DOID:13138 | SNOMEDCT ID:197579006 | Acute proliferative glomerulonephritis (disorder) | PGN - Acute proliferative glomerulonephritis | MONDO:0001644 | UMLS ID:C0341692 | Acute proliferative glomerulonephritis | acute proliferative glomerulonephritis +BMGC_DS05777,BMG_DS016352,MONDO:0001184 | DOID:11036 | chronic rapidly progressive glomerulonephritis | UMLS ID:C0341694 +BMGC_DS05778,BMG_DS016353,Atrophy of kidney | UMLS ID:C0341698 | SNOMEDCT ID:197659005 | SNOMEDCT ID:197676009 | Renal atrophy | Atrophy of kidney (disorder) +BMGC_DS05779,BMG_DS016356,DOID:1062 | Adult Fanconi syndrome | adult Fanconi syndrome | SNOMEDCT ID:236468006 | MONDO:0060778 | Fanconi syndrome | UMLS ID:C0341703 | Adult Fanconi syndrome (disorder) +BMGC_DS05780,BMG_DS016370,UMLS ID:C0341747 | detrusor sphincter dyssynergia | Detrusor and sphincter dyssynergia (disorder) | MONDO:0001447 | Detrusor and sphincter dyssynergia | SNOMEDCT ID:236655005 | DOID:12145 | DSD - Detrusor and sphincter dyssynergia +BMGC_DS05781,BMG_DS016378,UMLS ID:C0341766 | paraurethral gland neoplasm | DOID:2139 | MONDO:0002219 +BMGC_DS05782,BMG_DS016379,DOID:3855 | seminal vesicle tumor | UMLS ID:C0341767 | MONDO:0002790 +BMGC_DS05783,BMG_DS016386,Chlamydial epididymitis | UMLS ID:C0341779 | SNOMEDCT ID:236767000 | SNOMEDCT ID:197997008 | ICD10 ID:A56.19 | Chlamydial epididymitis (disorder) +BMGC_DS05784,BMG_DS016390,MONDO:0003319 | DOID:518 | UMLS ID:C0341790 | scrotum neoplasm +BMGC_DS05785,BMG_DS016406,UMLS ID:C0341823 | ovarian epithelial tumor | MONDO:0002229 | ovary epithelial cancer | DOID:2152 +BMGC_DS05786,BMG_DS016421,SNOMEDCT ID:76376003 | DOID:288 | Endometriosis of uterus (disorder) | endometriosis of uterus | ICD10 ID:N80.0 | ICD11 ID:GA11 | Adenomyosis | Endometriosis of uterus | UMLS ID:C0341858 +BMGC_DS05787,BMG_DS016427,"Subfertility, Female | UMLS ID:C0341869 | Infertility, Female | MeSH ID:D007247" +BMGC_DS05788,BMG_DS016464,MONDO:0001641 | severe pre-eclampsia | UMLS ID:C0341950 +BMGC_DS05789,BMG_DS016537,Toxic nodular goitre | Toxic struma nodosa | Toxic nodular goiter | UMLS ID:C0342127 | Toxic adenomatous goitre | MONDO:0001252 | DOID:11277 | Toxic nodular goiter (disorder) | SNOMEDCT ID:57777000 | Plummer disease | Plummer's disease | Toxic adenomatous goiter +BMGC_DS05790,BMG_DS016556,Congenital hypothyroidism without goitre | UMLS ID:C0342151 | SNOMEDCT ID:190272004 | congenital nongoitrous hypothyroidism 2 | Permanent congenital hypothyroidism without goitre | ICD11 ID:5A00.01 | congenital nongoitrous hypothyroidism 5 | congenital nongoitrous hypothyroidism 1 | SNOMEDCT ID:237515009 | congenital nongoitrous hypothyroidism 3 | congenital nongoitrous hypothyroidism 6 | ICD10 ID:E03.1 | congenital nongoitrous hypothyroidism 4 | Congenital hypothyroidism without goiter (disorder) | DOID:0070124;DOID:0111140;DOID:0070126;DOID:0070128;DOID:0070125;DOID:0070123;DOID:0070127 | IGSF1 deficiency syndrome | Congenital hypothyroidism without goiter | Congenital hypothyroidism without goitre (disorder) +BMGC_DS05791,BMG_DS016559,"MeSH ID:C562768 | UMLS ID:C0342158 | Hypothyroidism, Autoimmune" +BMGC_DS05792,BMG_DS016577,"OMIM ID:615999 | UMLS ID:C0342185 | MONDO:0014448 | hyperthyroxinemia, familial dysalbuminemic | Hyperthyroxinemia, Familial Dysalbuminemic | MeSH ID:D050010" +BMGC_DS05793,BMG_DS016580,C-cell hyperplasia of thyroid (disorder) | ICD11 ID:5A04 | ICD10 ID:E07.0 | C-cell hyperplasia of thyroid | UMLS ID:C0342190 | SNOMEDCT ID:237552009 | Hypersecretion of calcitonin | MONDO:0006120 | C-cell hyperplasia +BMGC_DS05794,BMG_DS016584,UMLS ID:C0342194 | DOID:0112187 | MeSH ID:C562769 | OMIM ID:274700 | Thyroid Dyshormonogenesis 3 | thyroid dyshormonogenesis 3 | MONDO:0010135 +BMGC_DS05795,BMG_DS016585,MONDO:0010136 | Thyroid Dyshormonogenesis 4 | thyroid dyshormonogenesis 4 | OMIM ID:274800 | UMLS ID:C0342195 | MeSH ID:C562770 | DOID:0112188 +BMGC_DS05796,BMG_DS016586,OMIM ID:274900 | thyroid dyshormonogenesis 5 | DOID:0112184 | MeSH ID:C562771 | Thyroid Dyshormonogenesis 5 | MONDO:0010137 | UMLS ID:C0342196 +BMGC_DS05797,BMG_DS016588,UMLS ID:C0342199 | Iodine deficiency syndrome | Iodine deficiency syndrome (disorder) | SNOMEDCT ID:237562002 +BMGC_DS05798,BMG_DS016589,congenital hypothyroidism | Endemic Cretinism | DOID:0050328 | MeSH ID:D003409 | Congenital Hypothyroidism | UMLS ID:C0342200 +BMGC_DS05799,BMG_DS016610,Diabetes Complications | MeSH ID:D048909 | UMLS ID:C0342257 | Complications of Diabetes Mellitus +BMGC_DS05800,BMG_DS016620,Transient neonatal diabetes mellitus | Transitory neonatal diabetes mellitus (disorder) | transient neonatal diabetes mellitus | UMLS ID:C0342273 | Transitory neonatal diabetes mellitus | MONDO:0020525 | SNOMEDCT ID:237603002 +BMGC_DS05801,BMG_DS016622,MONDO:0018911 | UMLS ID:C0342276 | Diabetes mellitus autosomal dominant | maturity-onset diabetes of the young | SNOMEDCT ID:400971001 | MODY - Maturity onset diabetes in youth type 1 | Maturity onset diabetes in youth | Maturity onset diabetes in youth type 1 | NIDDY | MODY - Maturity onset diabetes in youth type I | Mason-type diabetes | Maturity onset diabetes mellitus in young (disorder) | OMIM ID:606391 | Maturity onset diabetes mellitus in young | Autosomal dominant diabetes mellitus | MODY | SNOMEDCT ID:28453007 +BMGC_DS05802,BMG_DS016623,"SNOMEDCT ID:237604008 | Maturity onset diabetes in youth type 2 | MONDO:0007453 | UMLS ID:C0342277 | Diabetes mellitus autosomal dominant type II (disorder) | maturity-onset diabetes of the young type 2 | OMIM ID:125851 | MODY2 (maturity onset diabetes of the young type 2) | Maturity onset diabetes of the young, type 2 | Maturity onset diabetes of the young, type 2 (disorder) | GCK (glucokinase) monogenic diabetes mellitus | Diabetes mellitus autosomal dominant type II | Maturity onset diabetes in youth type II" +BMGC_DS05803,BMG_DS016624,Insulin receptor defect with insulin-resistant diabetes mellitus and acanthosis nigricans | OMIM ID:610549 | insulin-resistance syndrome type A | Hereditary benign acanthosis nigricans with insulin resistance | Insulin-resistant acanthosis nigricans type A | SNOMEDCT ID:237606005 | UMLS ID:C0342278 | Hereditary benign acanthosis nigricans with insulin resistance (disorder) | MONDO:0012520 +BMGC_DS05804,BMG_DS016625,AREDYLD syndrome | OMIM ID:207780 | AREDYLD Syndrome | MONDO:0008812 | MeSH ID:C537427 | UMLS ID:C0342280 +BMGC_DS05805,BMG_DS016626,"OMIM ID:158500 | muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome | Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus | UMLS ID:C0342281 | MeSH ID:C562774 | MONDO:0008023" +BMGC_DS05806,BMG_DS016627,MONDO:0008519 | OMIM ID:186500 | multiple synostoses syndrome 1 | MeSH ID:C536943 | UMLS ID:C0342282 | Multiple synostoses syndrome 1 +BMGC_DS05807,BMG_DS016628,MeSH ID:C562776 | OMIM ID:MTHU069939 | OMIM ID:616214 | Hyperproinsulinemia (disorder) | SNOMEDCT ID:237613005 | MONDO:0014535 | UMLS ID:C0342283 | Hyperproinsulinemia | hyperproinsulinemia | Hyperproinsulinaemia +BMGC_DS05808,BMG_DS016629,"SNOMEDCT ID:237614004 | OMIM ID:210740 | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre, and primary gonadal insufficiency | UMLS ID:C0342284 | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency | MeSH ID:C537902 | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency (disorder) | Bangstad syndrome | MONDO:0008874" +BMGC_DS05809,BMG_DS016630,"Diabetes, hypogonadism, deafness, intellectual disability syndrome | MeSH ID:C536742 | Woodhouse-Sakati syndrome | Woodhouse Sakati syndrome | DOID:0112264 | OMIM ID:241080 | Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder) | SNOMEDCT ID:816067005 | MONDO:0009419 | UMLS ID:C0342286" +BMGC_DS05810,BMG_DS016631,DOID:0090117 | OMIM ID:249270 | UMLS ID:C0342287 | MONDO:0009575 | thiamine-responsive megaloblastic anemia syndrome +BMGC_DS05811,BMG_DS016632,Insulin-dependent diabetes mellitus secretory diarrhea syndrome (disorder) | Congenital insulin-dependent diabetes mellitus with fatal secretory diarrhoea | OMIM ID:304790 | UMLS ID:C0342288 | Insulin-dependent diabetes mellitus secretory diarrhoea syndrome | immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | MONDO:0010580 | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | SNOMEDCT ID:237618001 | Congenital insulin-dependent diabetes mellitus with fatal secretory diarrhea +BMGC_DS05812,BMG_DS016633,UMLS ID:C0342289 | Mitochondrial diabetes | Ballinger-Wallace syndrome | maternally-inherited diabetes and deafness | MONDO:0010785 | OMIM ID:520000 | SNOMEDCT ID:237619009 | Maternally-inherited diabetes and hearing loss | Maternally inherited diabetes and deafness | Maternally inherited diabetes and deafness (disorder) | Diabetes-deafness syndrome maternally transmitted | MIDD - maternally inherited diabetes and deafness +BMGC_DS05813,BMG_DS016650,Hypoglycemic state in diabetes | Hypoglycaemic state in diabetes | Hypoglycaemic state due to diabetes mellitus | Hypoglycaemia due to diabetes mellitus | Hypoglycemia due to diabetes mellitus (disorder) | UMLS ID:C0342313 | SNOMEDCT ID:237633009 | Hypoglycemia due to diabetes mellitus | Hypoglycemic state due to diabetes mellitus +BMGC_DS05814,BMG_DS016663,Type A insulin resistance | SNOMEDCT ID:237651005 | Insulin resistance - type A | Insulin resistance - type A (disorder) | UMLS ID:C0342336 +BMGC_DS05815,BMG_DS016668,MeSH ID:D007011 | Idiopathic Hypoparathyroidism | UMLS ID:C0342342 | Hypoparathyroidism +BMGC_DS05816,BMG_DS016669,familial isolated hypoparathyroidism due to agenesis of parathyroid gland | Hypoparathyroidism - X-linked | X-linked hypoparathyroidism (disorder) | OMIM ID:307700 | X-linked hypoparathyroidism | UMLS ID:C0342344 | MONDO:0010618 | SNOMEDCT ID:237655001 +BMGC_DS05817,BMG_DS016670,UMLS ID:C0342345 | MONDO:0011013 | Hypoparathyroidism - autosomal dominant | autosomal dominant hypocalcemia 1 | OMIM ID:601198 | Hypoparathyroidism - autosomal dominant (disorder) | SNOMEDCT ID:237657009 +BMGC_DS05818,BMG_DS016680,"SNOMEDCT ID:237683004 | UMLS ID:C0342376 | OMIM ID:312000 | MONDO:0010712 | panhypopituitarism, X-linked | X-linked panhypopituitarism | Panhypopituitarism - X-linked | X-linked panhypopituitarism (disorder)" +BMGC_DS05819,BMG_DS016683,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 | 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 | UMLS ID:C0342381 | hypogonadotropic hypogonadism 6 with or without anosmia | isolated growth hormone deficiency type IA | Idiopathic growth hormone insufficiency | Hypopituitarism | isolated growth hormone deficiency type III | IGHD - Idiopathic growth hormone deficiency | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | SNOMEDCT ID:237688008 | Idiopathic growth hormone deficiency | Idiopathic growth hormone deficiency (disorder) | 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 | ICD10 ID:E23.0 | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | ICD11 ID:5A61.0 | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia +BMGC_DS05820,BMG_DS016685,OMIM ID:146110 | UMLS ID:C0342384 | hypogonadotropic hypogonadism 7 with or without anosmia | Idiopathic hypogonadotropic hypogonadism | Idiopathic hypogonadotropic hypogonadism (disorder) | SNOMEDCT ID:123953004 | Idiopathic gonadotrophin deficiency | MONDO:0007794 +BMGC_DS05821,BMG_DS016688,MONDO:0008720 | Adrenocorticotropic hormone (ACTH) deficiency (disorder) | UMLS ID:C0342388 | SNOMEDCT ID:237692001 | Adrenocorticotropic hormone deficiency (disorder) | Adrenocorticotropic hormone deficiency | ACTH deficiency | OMIM ID:201400 | congenital isolated adrenocorticotropic hormone deficiency | Adrenocorticotropic hormone (ACTH) deficiency | Secondary hypoadrenalism +BMGC_DS05822,BMG_DS016689,Familial AVP-D (arginine vasopressin deficiency) | Familial central diabetes insipidus | Familial vasopressin deficiency | OMIM ID:125700 | Familial arginine vasopressin deficiency (disorder) | neurohypophyseal diabetes insipidus | MONDO:0007450 | SNOMEDCT ID:237696003 | Familial arginine vasopressin deficiency | UMLS ID:C0342394 +BMGC_DS05823,BMG_DS016698,Pituitary infarct | pituitary gland infarction | Pituitary infarction | Pituitary infarction (disorder) | pituitary infarct | UMLS ID:C0342405 | DOID:1130 | MONDO:0001259 | SNOMEDCT ID:95830009 +BMGC_DS05824,BMG_DS016707,congenital hypothalamic hamartoma syndrome | UMLS ID:C0342418 | MONDO:0009436 | OMIM ID:241800 +BMGC_DS05825,BMG_DS016734,"3 beta-Hydroxysteroid dehydrogenase deficiency | UMLS ID:C0342471 | congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | MONDO:0008727 | 3 beta-HSD deficiency | SNOMEDCT ID:54470008 | OMIM ID:201810 | 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) | Congenital adrenal hyperplasia, type 4 | CAH - 3 beta-dehydrogenase deficiency" +BMGC_DS05826,BMG_DS016735,"UMLS ID:C0342473 | Steroid 17,20-lyase deficiency | Male pseudohermaphroditism due to testicular 17,20-desmolase deficiency | 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) | 17 alpha-Hydroxyprogesterone aldolase deficiency | Defective synthesis of 17-20 desmolase | SNOMEDCT ID:49013001" +BMGC_DS05827,BMG_DS016736,UMLS ID:C0342474 | congenital lipoid adrenal hyperplasia due to STAR deficency | MeSH ID:C537027 | Lipoid congenital adrenal hyperplasia | OMIM ID:201710 | MONDO:0008725 +BMGC_DS05828,BMG_DS016740,"UMLS ID:C0342482 | X-linked Adrenal Hypoplasia | OMIM ID:300200 | MeSH ID:D000075262 | Hypoadrenocorticism, Familial | X-linked adrenal hypoplasia congenita | MONDO:0010264" +BMGC_DS05829,BMG_DS016743,"apparent mineralocorticoid excess | MONDO:0009025 | DOID:4367 | OMIM ID:218030 | apparent mineralocorticoid excess syndrome | Mineralocorticoid Excess Syndrome, Apparent | UMLS ID:C0342488 | MeSH ID:D043204" +BMGC_DS05830,BMG_DS016747,SNOMEDCT ID:237778003 | UMLS ID:C0342495 | Macronodular adrenal hyperplasia | Macronodular adrenal hyperplasia (disorder) | OMIM ID:MTHU020776 +BMGC_DS05831,BMG_DS016766,Androgen deficiency | Defective biosynthesis of testicular androgen | Defect of testicular androgen synthesis | UMLS ID:C0342527 | SNOMEDCT ID:38825009 | Deficiency of testosterone biosynthesis | Deficiency of testosterone biosynthesis (disorder) +BMGC_DS05832,BMG_DS016777,"MONDO:0019165 | central precocious puberty | DOID:0112308 | Puberty, Precocious | UMLS ID:C0342543 | Central Precocious Puberty | MeSH ID:D011629" +BMGC_DS05833,BMG_DS016781,OMIM ID:176410 | MeSH ID:C536961 | Familial Testotoxicosis | MONDO:0008303 | DOID:0111545 | UMLS ID:C0342549 | familial male-limited precocious puberty +BMGC_DS05834,BMG_DS016788,Carcinoid crisis | SNOMEDCT ID:237833006 | UMLS ID:C0342569 | Carcinoid crisis (disorder) | MONDO:0041167 | carcinoid crisis +BMGC_DS05835,BMG_DS016790,OMIM ID:262400 | UMLS ID:C0342573 | MONDO:0009876 | isolated growth hormone deficiency type IA +BMGC_DS05836,BMG_DS016799,"Amyloid Neuropathies, Familial | MeSH ID:D028227 | Amyloid Polyneuropathy, British Type | UMLS ID:C0342608" +BMGC_DS05837,BMG_DS016801,UMLS ID:C0342611 | SNOMEDCT ID:237868006 | Familial non-neuropathic amyloidosis (disorder) | Nonneuropathic heredofamilial amyloidosis | Familial non-neuropathic amyloidosis +BMGC_DS05838,BMG_DS016812,Neonatal hypocalcemia (disorder) | UMLS ID:C0342634 | OMIM ID:MTHU015276 | SNOMEDCT ID:206482007 | (Hypocalcemia: [neonatal] or [cow's milk]) or (neonatal hypoparathroidism) | Neonatal hypocalcaemia | (Hypocalcaemia: [neonatal] or [cow's milk]) or (neonatal hypoparathroidism) | Neonatal hypocalcemia | Neonatal hypocalcaemia (disorder) | SNOMEDCT ID:268846006 | Neonatal hypoparathroidism | Cow's milk hypocalcemia | Cow's milk hypocalcaemia | SNOMEDCT ID:157145008 | (Hypocalcaemia: [neonatal] or [cow's milk]) or (neonatal hypoparathroidism) (disorder) +BMGC_DS05839,BMG_DS016815,"MeSH ID:C537145 | OMIM ID:145980 | MONDO:0007791 | familial hypocalciuric hypercalcemia 1 | Hypocalciuric hypercalcemia, familial, type 1 | UMLS ID:C0342637" +BMGC_DS05840,BMG_DS016817,"MONDO:0007748 | hypercalciuria, absorptive, 2 | OMIM ID:143870 | UMLS ID:C0342639" +BMGC_DS05841,BMG_DS016819,Autosomal dominant hypophosphataemic rickets | Autosomal dominant hypophosphatemic rickets | OMIM ID:193100 | MONDO:0008660 | UMLS ID:C0342642 | SNOMEDCT ID:237889002 | autosomal dominant hypophosphatemic rickets | Autosomal dominant hypophosphatemic rickets (disorder) +BMGC_DS05842,BMG_DS016820,MONDO:0017324 | UMLS ID:C0342643 | Autosomal recessive hypophosphataemic vitamin D refractory rickets | SNOMEDCT ID:90505000 | Autosomal recessive hypophosphataemic rickets | Autosomal recessive hypophosphatemic rickets | Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder) | autosomal recessive hypophosphatemic rickets | Autosomal recessive hypophosphatemic vitamin D refractory rickets +BMGC_DS05843,BMG_DS016821,"Vitamin D-Dependent Rickets, Type 2A | UMLS ID:C0342646 | MeSH ID:C562794 | vitamin D-dependent rickets, type 2A | OMIM ID:277440 | MONDO:0010186" +BMGC_DS05844,BMG_DS016823,"UMLS ID:C0342649 | Vascular calcification | Vascular calcification, radiographic finding | Radiographic finding of vascular calcification | Radiographic finding of vascular calcification (finding) | Vascular calcification (disorder) | SNOMEDCT ID:129759000 | SNOMEDCT ID:237897009" +BMGC_DS05845,BMG_DS016838,"ALBINISM, OCULOCUTANEOUS, TYPE III | oculocutaneous albinism type III | UMLS ID:C0342683 | MONDO:0008747 | OMIM ID:115501 | OMIM ID:203290 | DOID:0070097 | OMIM ID:278400 | oculocutaneous albinism type 3" +BMGC_DS05846,BMG_DS016839,"Nettleship-Falls type ocular albinism | OMIM ID:300500 | X-linked ocular albinism | X-linked ocular albinism, Nettleship type | Ocular albinism, type I | X linked ocular albinism | X-linked recessive ocular albinism | Ocular albinism, type I (disorder) | MONDO:0021019 | UMLS ID:C0342684 | SNOMEDCT ID:78642008 | OA1 - X-linked ocular albinism" +BMGC_DS05847,BMG_DS016842,dopamine beta hydroxylase deficiency | UMLS ID:C0342687 | DOID:0090145 | MeSH ID:C535600 | dopamine beta-hydroxylase deficiency +BMGC_DS05848,BMG_DS016849,UMLS ID:C0342700 | Transcobalamin I Deficiency | OMIM ID:193090 | transcobalamin I deficiency | MeSH ID:C562798 | MONDO:0008659 +BMGC_DS05849,BMG_DS016850,Transcobalamin II deficiency (disorder) | UMLS ID:C0342701 | TCN2 - Transcobalamin II deficiency | transcobalamin II deficiency | SNOMEDCT ID:191143002 | OMIM ID:275350 | OMIM ID:MTHU008999 | ICD10 ID:D51.2 | Hereditary vitamin B12 deficiency anaemia | ICD11 ID:3A01.0 | SNOMEDCT ID:237934001 | MONDO:0010149 | Transcobalamin II deficiency +BMGC_DS05850,BMG_DS016854,"MeSH ID:C562799 | hereditary folate malabsorption | DOID:0111678 | OMIM ID:229050 | MONDO:0009238 | UMLS ID:C0342705 | Folate Malabsorption, Hereditary" +BMGC_DS05851,BMG_DS016856,OMIM ID:613163 | UMLS ID:C0342708 | GABA aminotransaminase deficiency | MONDO:0013166 | MeSH ID:C535407 | Gamma aminobutyric acid transaminase deficiency +BMGC_DS05852,BMG_DS016864,MONDO:0017360 | Mutase0 methylmalonic acidaemia | Mutase0 methylmalonic acidemia | Complete deficiency of methylmalonyl-coenzyme A mutase | vitamin B12-unresponsive methylmalonic acidemia type mut0 | SNOMEDCT ID:237945003 | MMUT-gene related complete deficiency of methylmalonyl-coenzyme A mutase | Vitamin B12-unresponsive methylmalonic aciduria type mut0 | UMLS ID:C0342718 | Vitamin B12-unresponsive methylmalonic acidaemia type mut0 | Complete deficiency of methylmalonyl-coenzyme A mutase (disorder) | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | Complete deficiency of methylmalonyl-CoA mutase +BMGC_DS05853,BMG_DS016865,UMLS ID:C0342719 | Partial deficiency of methylmalonyl-coenzyme A mutase (disorder) | Vitamin B12-unresponsive methylmalonic acidemia type mut- | MONDO:0019267 | Partial deficiency of methylmalonyl-CoA mutase | MMUT-gene related partial deficiency of methylmalonyl-coenzyme A mutase | Partial deficiency of methylmalonyl-coenzyme A mutase | vitamin B12-unresponsive methylmalonic acidemia type mut- | Vitamin B12-unresponsive methylmalonic acidaemia type mut- | SNOMEDCT ID:237946002 | Mutase- methylmalonic acidaemia | Mutase- methylmalonic acidemia +BMGC_DS05854,BMG_DS016870,"OMIM ID:600529 | OMIM ID:250950 | 3-methylglutaconic aciduria type 1 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I | MONDO:0009610 | UMLS ID:C0342727" +BMGC_DS05855,BMG_DS016872,Deficiency of mevalonate kinase (disorder) | Mevalonate kinase deficiency | DOID:0050452 | Deficiency of mevalonate kinase | mevalonic aciduria | UMLS ID:C0342731 | MONDO:0017708 | mevalonate kinase deficiency | SNOMEDCT ID:124327008 +BMGC_DS05856,BMG_DS016874,Cytosolic acetoacetyl-coenzyme A thiolase deficiency (disorder) | acetyl-CoA acetyltransferase-2 deficiency | OMIM ID:614055 | UMLS ID:C0342735 | MeSH ID:C536005 | Cytosolic acetoacetyl-coenzyme A thiolase deficiency | SNOMEDCT ID:237955004 | MONDO:0013548 | Cytosolic acetoacetyl-CoA thiolase deficiency +BMGC_DS05857,BMG_DS016875,3-hydroxyisobutyric aciduria | SNOMEDCT ID:237957007 | OMIM ID:236795 | 3-Hydroxyisobutyric aciduria | UMLS ID:C0342737 | MeSH ID:C535312 | 3-Hydroxyisobutyric aciduria (disorder) | MONDO:0009371 +BMGC_DS05858,BMG_DS016876,UMLS ID:C0342738 | MeSH ID:C562803 | MONDO:0009603 | 3-hydroxyisobutyryl-CoA hydrolase deficiency | Beta-Hydroxyisobutyryl CoA Deacylase Deficiency | OMIM ID:250620 +BMGC_DS05859,BMG_DS016877,Trimethylaminuria | DOID:0080361 | trimethylaminuria | MeSH ID:C536561 | UMLS ID:C0342739 | SNOMEDCT ID:237959005 | Fish odour syndrome | ICD10 ID:E72.52 | MONDO:0011182 | OMIM ID:MTHU054300 | Trimethylaminuria (disorder) | Fish odor syndrome +BMGC_DS05860,BMG_DS016884,OMIM ID:232240 | glycogen storage disease Ic | UMLS ID:C0342749 | DOID:0081331 | GLYCOGEN STORAGE DISEASE Ic | OMIM ID:602671 +BMGC_DS05861,BMG_DS016886,"Generalized glycogen storage disease of infants | SNOMEDCT ID:76219003 | UMLS ID:C0342751 | Glycogen storage disease, type II | Glycogen storage disease, type II (disorder)" +BMGC_DS05862,BMG_DS016888,"Pompe disease, late onset | UMLS ID:C0342753 | Alpha-1,4-glucosidase acid deficiency, late onset | Glycogenosis type II, late onset | Glycogen storage disease due to acid maltase deficiency, late-onset (disorder) | Glycogen storage disease due to acid maltase deficiency, late-onset | MONDO:0018485 | Glycogen storage disease type II late onset | glycogen storage disease due to acid maltase deficiency, late-onset | SNOMEDCT ID:722343009" +BMGC_DS05863,BMG_DS016898,D-Glyceric aciduria (disorder) | MONDO:0009070 | SNOMEDCT ID:237980004 | UMLS ID:C0342765 | D-glyceric aciduria | D-Glyceric aciduria | OMIM ID:220120 +BMGC_DS05864,BMG_DS016901,Fumarase deficiency | SNOMEDCT ID:237983002 | OMIM ID:606812 | fumaric aciduria | UMLS ID:C0342770 | MONDO:0011730 | MeSH ID:C538191 | DOID:0111261 | Fumarate hydratase deficiency (disorder) | Fumarate hydratase deficiency | fumarase deficiency +BMGC_DS05865,BMG_DS016907,UMLS ID:C0342782 | SNOMEDCT ID:237995002 | mitochondrial DNA depletion syndrome | Depletion of mitochondrial DNA | Depletion of mitochondrial deoxyribonucleic acid (disorder) | Depletion of mitochondrial deoxyribonucleic acid | MONDO:0018158 +BMGC_DS05866,BMG_DS016908,Deficiency of butyryl-CoA dehydrogenase (disorder) | UMLS ID:C0342783 | Deficiency of unsaturated acyl-CoA reductase | Deficiency of butyryl-CoA dehydrogenase | Deficiency of butyryl dehydrogenase | OMIM ID:201470 | short chain acyl-CoA dehydrogenase deficiency | SNOMEDCT ID:124166007 | Butyryl-CoA dehydrogenase deficiency | MONDO:0008722 +BMGC_DS05867,BMG_DS016909,UMLS ID:C0342784 | MONDO:0010797 | MeSH ID:C536353 | Pearson's marrow-pancreas syndrome | OMIM ID:557000 | Pearson syndrome +BMGC_DS05868,BMG_DS016912,Renal carnitine transport defect (disorder) | Renal carnitine transport defect | OMIM ID:212140 | Carnitine uptake defect | MONDO:0008919 | UMLS ID:C0342788 | systemic primary carnitine deficiency disease | Carnitine transporter deficiency | SNOMEDCT ID:21764004 | Primary carnitine deficiency | DOID:14365 | Systemic carnitine deficiency +BMGC_DS05869,BMG_DS016913,MONDO:0015515 | Carnitine palmitoyl transferase 2 deficiency | DOID:0060235 | carnitine palmitoyltransferase II deficiency | MeSH ID:C535589 | UMLS ID:C0342790 +BMGC_DS05870,BMG_DS016914,UMLS ID:C0342791 | MONDO:0008918 | OMIM ID:212138 | Carnitine-Acylcarnitine Translocase Deficiency | DOID:0111585 | MeSH ID:C562812 | carnitine-acylcarnitine translocase deficiency +BMGC_DS05871,BMG_DS016915,OMIM ID:245050 | MONDO:0009492 | Succinyl-CoA:3-oxoacid CoA transferase deficiency | succinyl-CoA:3-ketoacid CoA transferase deficiency | MeSH ID:C537527 | UMLS ID:C0342792 +BMGC_DS05872,BMG_DS016916,malonic aciduria | MeSH ID:C535702 | MONDO:0009556 | SNOMEDCT ID:361203007 | OMIM ID:248360 | Malonic aciduria (disorder) | UMLS ID:C0342793 | Malonic aciduria | MLYCD-gene related malonic aciduria +BMGC_DS05873,BMG_DS016919,UMLS ID:C0342800 | Inosine Triphosphatase Deficiency | MeSH ID:C564127 | MONDO:0013461 | inosine triphosphatase deficiency | OMIM ID:613850 +BMGC_DS05874,BMG_DS016920,DOID:0080172 | poor metabolism of thiopurines | OMIM ID:610460 | MONDO:0012503 | UMLS ID:C0342801 | MeSH ID:C536512 | thiopurine S-methyltransferase deficiency | Thiopurine S methyltranferase deficiency +BMGC_DS05875,BMG_DS016922,MONDO:0009111 | DOID:0111629 | Dihydrouracil amidohydrolase deficiency | dihydropyrimidinase deficiency | OMIM ID:222748 | UMLS ID:C0342803 | Dihydropyrimidinase deficiency | SNOMEDCT ID:238014002 | Dihydropyrimidinase deficiency (disorder) | dihydropyrimidinuria +BMGC_DS05876,BMG_DS016943,"UMLS ID:C0342841 | Mucopolysaccharidosis type II severe form | Hunter's syndrome, severe form (disorder) | SNOMEDCT ID:73146005 | Hunter's syndrome, severe form | MONDO:0016315 | Hunter syndrome, severe form | mucopolysaccharidosis type 2, severe form" +BMGC_DS05877,BMG_DS016944,"Hunter's syndrome, mild form (disorder) | Hunter syndrome, mild form | Hunter's syndrome, mild form | UMLS ID:C0342842 | SNOMEDCT ID:5667009 | Mucopolysaccharidosis type II mild form" +BMGC_DS05878,BMG_DS016947,"Mannosidosis, severe form | UMLS ID:C0342847 | Mannosidosis, type I (disorder) | Mannosidosis, type I | Mannosidosis infantile onset | Infantile mannosidosis | SNOMEDCT ID:62311004 | MONDO:0017732 | alpha-mannosidosis, infantile form" +BMGC_DS05879,BMG_DS016950,MONDO:0010028 | UMLS ID:C0342853 | OMIM ID:269921 | Sialuria (disorder) | SNOMEDCT ID:238051008 | DOID:3659 | sialuria | Sialic Acid Storage Disease | Sialuria | MeSH ID:D029461 +BMGC_DS05880,BMG_DS016952,Coproporphyria | UMLS ID:C0342856 | MeSH ID:C535469 | SNOMEDCT ID:190915002 | Coproporphyria (disorder) +BMGC_DS05881,BMG_DS016955,MONDO:0030048 | Harderoporphyria | UMLS ID:C0342859 | OMIM ID:618892 | Homozygous hereditary coproporphyria | Homozygous hereditary coproporphyria (disorder) | harderoporphyria | SNOMEDCT ID:238056003 | MeSH ID:C562816 +BMGC_DS05882,BMG_DS016960,MONDO:0009855 | OMIM ID:261515 | d-bifunctional protein deficiency | UMLS ID:C0342870 +BMGC_DS05883,BMG_DS016962,MeSH ID:C562818 | glutaric acidemia type 3 | UMLS ID:C0342873 | MONDO:0009283 | OMIM ID:231690 | Glutaric Aciduria III +BMGC_DS05884,BMG_DS016968,homozygous familial hypercholesterolemia | Homozygous Familial Hypercholesterolemia | MeSH ID:D000090542 | UMLS ID:C0342881 | MONDO:0018328 +BMGC_DS05885,BMG_DS016969,Familial hypercholesterolaemia - heterozygous | SNOMEDCT ID:238079002 | UMLS ID:C0342882 | Familial hypercholesterolemia - heterozygous | Familial hypercholesterolemia - heterozygous (disorder) +BMGC_DS05886,BMG_DS016970,Cholesteryl Ester Transfer Protein Deficiency | DOID:0111369 | UMLS ID:C0342883 | hyperalphalipoproteinemia 1 | MeSH ID:C564591 | hyperalphalipoproteinemia | MONDO:0015903 +BMGC_DS05887,BMG_DS016975,UMLS ID:C0342895 | Fish-Eye Disease | OMIM ID:136120 | Lecithin Cholesterol Acyltransferase Deficiency | MeSH ID:D007863 | fish eye disease | MONDO:0007620 +BMGC_DS05888,BMG_DS016976,Apolipoprotein A-I deficiency | SNOMEDCT ID:238095002 | Apolipoprotein A-I deficiency (disorder) | UMLS ID:C0342898 +BMGC_DS05889,BMG_DS016978,sitosterolemia | sitosterolemia 1 | DOID:0090019 | UMLS ID:C0342907 | MONDO:0008863 +BMGC_DS05890,BMG_DS016988,UMLS ID:C0342938 | ICD11 ID:5B7Z | SNOMEDCT ID:238128006 | Deficiency of pantothenic acid | Pantothenic acid deficiency (disorder) | Unspecified undernutrition | ICD10 ID:E53.8 | Pantothenic acid deficiency +BMGC_DS05891,BMG_DS017012,Superficial bacterial infection of skin | SNOMEDCT ID:275441009 | UMLS ID:C0342985 | Superficial bacterial infection of skin (disorder) +BMGC_DS05892,BMG_DS017036,MeSH ID:C537005 | Complement component 5 deficiency | MONDO:0012295 | DOID:8158 | complement component 5 deficiency | OMIM ID:609536 | UMLS ID:C0343047 +BMGC_DS05893,BMG_DS017039,guttate psoriasis | MONDO:0023297 | MeSH ID:D000098650 | Guttate Psoriasis | UMLS ID:C0343052 +BMGC_DS05894,BMG_DS017041,Generalized pustular psoriasis | SNOMEDCT ID:238612002 | UMLS ID:C0343055 | Generalized pustular psoriasis (disorder) | Generalised pustular psoriasis | Generalised pustular psoriasis of von Zumbusch | pustular psoriasis 14 | MONDO:0100491 | Acute generalised pustular psoriasis | Acute generalized pustular psoriasis | DOID:0080474 | ICD11 ID:EA90.40 | ICD10 ID:L40.1 | generalized pustular psoriasis | Generalized pustular psoriasis of von Zumbusch +BMGC_DS05895,BMG_DS017042,keratosis follicularis spinulosa decalvans | MONDO:0000136 | UMLS ID:C0343057 +BMGC_DS05896,BMG_DS017045,Dermatographic urticaria (disorder) | Ebbecke's reaction | Autographism | Factitial urticaria | Dermagraphy | Dermographic urticaria | (Dermatographic urticaria) or (factitial urticaria) (disorder) | ICD10 ID:L50.3 | Dermatographism | (Dermatographic urticaria) or (factitial urticaria) | Dermatographia | Dermographism | ICD11 ID:EB01.0 | dermatographia | SNOMEDCT ID:7632005 | Dermographia | SNOMEDCT ID:201263000 | Dermatographic urticaria | DOID:743 | Urticaria factitia | Dermatography | Skin writing | UMLS ID:C0343065 +BMGC_DS05897,BMG_DS017046,FCAS - familial cold autoinflammatory syndrome | SNOMEDCT ID:238687000 | FCU - familial cold urticaria | MONDO:0018768 | Familial cold urticaria | UMLS ID:C0343068 | Familial cold autoinflammatory syndrome | ICD10 ID:M04.2 | familial cold autoinflammatory syndrome | Familial cold urticaria (disorder) +BMGC_DS05898,BMG_DS017049,UMLS ID:C0343073 | isolated familial wooly hair disorder | MONDO:0008686 +BMGC_DS05899,BMG_DS017055,"milia, multiple eruptive | OMIM ID:157400 | MONDO:0008001 | UMLS ID:C0343079" +BMGC_DS05900,BMG_DS017057,White atrophy | ICD10 ID:L95.0 | UMLS ID:C0343081 | livedoid vasculopathy | SNOMEDCT ID:238762002 | SNOMEDCT ID:201299005 | Livedoid vasculitis (disorder) | Livedoid vasculitis | Livedoid vasculopathy | ICD11 ID:EF50 | MONDO:0025514 | Idiopathic atrophic blanche | DOID:0040099 | livedoid vasculitis +BMGC_DS05901,BMG_DS017058,cherry hemangioma | UMLS ID:C0343082 | senile angioma | MONDO:0002323 | DOID:2495 +BMGC_DS05902,BMG_DS017060,UMLS ID:C0343084 | MeSH ID:D019559 | MONDO:0001956 | DOID:14400 | capillary leak syndrome | Capillary Leak Syndrome +BMGC_DS05903,BMG_DS017062,"MONDO:0008261 | OMIM ID:173700 | UMLS ID:C0343094 | hereditary sclerosing poikiloderma, Weary type" +BMGC_DS05904,BMG_DS017063,UMLS ID:C0343097 | Facial Dermatoses | MeSH ID:D005148 | Nodular Elastoidosis +BMGC_DS05905,BMG_DS017067,UMLS ID:C0343108 | MeSH ID:C537066 | Flynn Aird syndrome | OMIM ID:136300 | MONDO:0007624 | Flynn-Aird syndrome +BMGC_DS05906,BMG_DS017068,Naegeli syndrome | MONDO:0008059 | DOID:0111528 | UMLS ID:C0343111 | MeSH ID:C538331 | Naegeli-Franceschetti-Jadassohn syndrome | OMIM ID:161000 +BMGC_DS05907,BMG_DS017070,UMLS ID:C0343114 | wooly hair nevus | MONDO:0019311 +BMGC_DS05908,BMG_DS017071,DOID:3666 | UMLS ID:C0343115 | MONDO:0019314 | cutaneous mastocytoma | solitary mastocytoma of the skin +BMGC_DS05909,BMG_DS017092,Cutaneous livedo with nodules | cutaneous polyarteritis nodosa | UMLS ID:C0343190 | SNOMEDCT ID:239926000 | Nodular livedo | MONDO:0018592 | Cutaneous polyarteritis nodosa | Cutaneous polyarteritis nodosa (disorder) +BMGC_DS05910,BMG_DS017103,Rheumatoid vasculitis | Systemic rheumatoid vasculitis (disorder) | UMLS ID:C0343203 | Systemic rheumatoid vasculitis | SNOMEDCT ID:400054000 | SNOMEDCT ID:239942007 | Rheumatoid arthritis with systemic vasculitis | SNOMEDCT ID:1149219001 | Rheumatoid arthritis with vasculitis | Rheumatoid arthritis with vasculitis (disorder) | Rheumatoid arthritis with systemic vasculitis (disorder) +BMGC_DS05911,BMG_DS017106,Hypocomplementaemic vasculitis | UMLS ID:C0343206 | hypocomplementemic urticarial vasculitis | SNOMEDCT ID:239945009 | Hypocomplementemic urticarial vasculitis (disorder) | Hypocomplementemic vasculitis | MONDO:0018227 | Hypocomplementemic urticarial vasculitis | Hypocomplementaemic urticarial vasculitis +BMGC_DS05912,BMG_DS017150,UMLS ID:C0343284 | MONDO:0022723 | chondrodysplasia +BMGC_DS05913,BMG_DS017158,Tetanus neonatorum | ICD10 ID:A33 | SNOMEDCT ID:43424001 | UMLS ID:C0343312 | DOID:13521 | tetanus neonatorum | Tetanus neonatorum (disorder) | MONDO:0001737 +BMGC_DS05914,BMG_DS017175,UMLS ID:C0343337 | Pseudomonas: [GIT infection] or [pyocyanea diarrhoea] (disorder) | Diarrhoea due to Pseudomonas pyocyanea | Pseudomonas gastrointestinal tract infection | SNOMEDCT ID:266078006 | Pseudomonas: [GIT infection] or [pyocyanea diarrhoea] | Pseudomonas: [GIT infection] or [pyocyanea diarrhea] | Pseudomonas gastrointestinal tract infection (disorder) | SNOMEDCT ID:186142005 | Diarrhea due to Pseudomonas pyocyanea +BMGC_DS05915,BMG_DS017201,UMLS ID:C0343378 | Helicobacter-associated gastritis | SNOMEDCT ID:89538001 | Helicobacter-associated gastritis (disorder) +BMGC_DS05916,BMG_DS017208,Clostridium difficile infection (disorder) | Clostridioides difficile infection | SNOMEDCT ID:389981005 | UMLS ID:C0343386 | Infection caused by Clostridioides difficile | Infection caused by Clostridioides difficile (disorder) | Clostridium difficile infection | SNOMEDCT ID:186431008 +BMGC_DS05917,BMG_DS017218,MONDO:0005725 | ICD10 ID:A07.4 | cyclosporiasis | Cyclosporiasis | DOID:12750 | MeSH ID:D021866 | UMLS ID:C0343398 | SNOMEDCT ID:240372001 | Cyclosporiasis (disorder) +BMGC_DS05918,BMG_DS017221,Methicillin resistant Staphylococcus aureus infection | methicillin-resistant staphylococcus aureus infectious disease | MONDO:0100073 | Methicillin resistant Staphylococcus aureus infection (disorder) | SNOMEDCT ID:266096002 | Infection due to Methicillin resistant Staphylococcus aureus | UMLS ID:C0343401 | MRSA (Methicillin resistant Staphylococcus aureus) infection +BMGC_DS05919,BMG_DS017222,Friedlander bacillus infection | SNOMEDCT ID:186435004 | Bacterial infection caused by Klebsiella pneumoniae | UMLS ID:C0343402 | Friedlander's bacillus infection (disorder) | Friedlander's bacillus infection +BMGC_DS05920,BMG_DS017270,SNOMEDCT ID:240411003 | ENL - Erythema nodosum leprosum | Erythema nodosum leprosum | Erythema nodosum leprosum (disorder) | UMLS ID:C0343467 +BMGC_DS05921,BMG_DS017285,DOID:8596 | SNOMEDCT ID:154301006 | UMLS ID:C0343487 | Streptococcal sore throat with scarlatina (disorder) | SNOMEDCT ID:186357007 | Streptococcal sore throat with scarlatina | scarlet fever +BMGC_DS05922,BMG_DS017296,Gas gangrene caused by clostridium welchii | SNOMEDCT ID:266093005 | Clostridium perfringens infection | Clostridium (& [perfringens] or [welchii]: [infection] or [gas gangrene] | Gas gangrene caused by clostridium perfringens | Clostridium (& [perfringens] or [welchii]: [infection] or [gas gangrene] (disorder) | UMLS ID:C0343500 | Gas gangrene caused by clostridium perfringens (disorder) | SNOMEDCT ID:186410005 +BMGC_DS05923,BMG_DS017322,MONDO:0020487 | Legionnaires' Disease | Pontiac Fever | UMLS ID:C0343528 | MeSH ID:D007877 | Pontiac fever +BMGC_DS05924,BMG_DS017325,Streptococcal toxic shock syndrome (disorder) | UMLS ID:C0343532 | streptococcal toxic-shock syndrome | Streptococcal toxic shock syndrome | MONDO:0020544 | SNOMEDCT ID:240451000 +BMGC_DS05925,BMG_DS017417,SNOMEDCT ID:75003008 | Human papillomavirus infection (disorder) | Human papilloma virus infection | HPV (Human papillomavirus) infection | HPV (Human papillomavirus) disease | MONDO:0005161 | human papilloma virus infection | Papovavirus infection subgroup A (disorder) | Papovavirus infection subgroup A | Human papilloma virus infection (disorder) | SNOMEDCT ID:186751006 | Human papillomavirus infection | SNOMEDCT ID:240532009 | UMLS ID:C0343641 +BMGC_DS05926,BMG_DS017469,UMLS ID:C0343714 | Gonococcal synovitis &/or tenosynovitis (disorder) | SNOMEDCT ID:266138002 | DOID:13454 | gonococcal synovitis | Gonococcal tenosynovitis | Gonococcal synovitis &/or tenosynovitis | Gonococcal synovitis or tenosynovitis (disorder) | Gonococcal teno-synovitis | SNOMEDCT ID:186927008 | Gonococcal synovitis or tenosynovitis | Gonococcal synovitis +BMGC_DS05927,BMG_DS017482,SNOMEDCT ID:266114001 | Warts: [perianal] or [anal] | Perianal warts | SNOMEDCT ID:186689006 | Perianal warts (disorder) | Anal warts | UMLS ID:C0343730 | Warts: [perianal] or [anal] (disorder) | SNOMEDCT ID:154364000 +BMGC_DS05928,BMG_DS017498,Acute HIV infection | Acute human immunodeficiency virus seroconversion illness | UMLS ID:C0343752 | Acute human immunodeficiency virus infection (disorder) | Acute human immunodeficiency virus infection | SNOMEDCT ID:111880001 +BMGC_DS05929,BMG_DS017500,MeSH ID:D019247 | HIV wasting syndrome | MONDO:0005797 | HIV Wasting Syndrome | UMLS ID:C0343755 +BMGC_DS05930,BMG_DS017503,SNOMEDCT ID:240614000 | Rocky Mountain tick fever | American tick typhus (disorder) | Rocky Mountain spotted fever | Sao Paulo fever | UMLS ID:C0343759 | Rocky Mountain spotted fever (disorder) | American tick typhus | RMSF - Rocky Mountain spotted fever | SNOMEDCT ID:186772009 | Brazilian spotted fever +BMGC_DS05931,BMG_DS017559,MONDO:0042452 | Tertiary yaws | tertiary lesion of yaws | SNOMEDCT ID:88037009 | Tertiary lesion of yaws | Tertiary lesion of yaws (disorder) | Tertiary stage of yaws | UMLS ID:C0343833 +BMGC_DS05932,BMG_DS017560,Bone and/or joint yaws lesions | DOID:10568 | Bone and joint yaws lesions | early yaws | UMLS ID:C0343834 | SNOMEDCT ID:266147005 | Bone and/or joint yaws lesions (disorder) +BMGC_DS05933,BMG_DS017580,Candidiasis: [oral and esophagus] or [pharyngeal] | Candidiasis: [oral and oesophagus] or [pharyngeal] (disorder) | Candidosis of pharynx | Candidiasis of mouth and oesophagus | Candidiasis: [oral and oesophagus] or [pharyngeal] | SNOMEDCT ID:240704003 | Pharyngeal candidiasis | Oral moniliasis | Thrush of mouth and esophagus | Pharyngeal thrush | Oral candidiasis | Candidiasis of mouth and esophagus | UMLS ID:C0343861 | Monilia of mouth and oesophagus | Pharyngeal candidiasis (disorder) | Monilia of mouth and esophagus | Thrush of mouth and oesophagus | SNOMEDCT ID:187006006 +BMGC_DS05934,BMG_DS017602,Candidiasis of intestine | UMLS ID:C0343886 | Gastrointestinal candidiasis (disorder) | Gastrointestinal candidiasis | SNOMEDCT ID:84679006 +BMGC_DS05935,BMG_DS017646,MeSH ID:D060586 | UMLS ID:C0343939 | Trichosporonosis (disorder) | SNOMEDCT ID:240761008 | DOID:0050290 | MONDO:0000306 | trichosporonosis | Trichosporonosis +BMGC_DS05936,BMG_DS017647,Disseminated Trichosporonosis | MeSH ID:D060586 | UMLS ID:C0343941 | DOID:0050290 | trichosporonosis | Trichosporonosis +BMGC_DS05937,BMG_DS017666,Entomophthoramycosis | Entomophthoramycosis (disorder) | Zygomycosis | SNOMEDCT ID:240782002 | MeSH ID:D020096 | UMLS ID:C0343961 | Infection by Entomophthora +BMGC_DS05938,BMG_DS017792,"Nystagmus, Pathologic | See-Saw Nystagmus | UMLS ID:C0344243 | MeSH ID:D009759" +BMGC_DS05939,BMG_DS017802,"UMLS ID:C0344289 | SNOMEDCT ID:65545003 | Bullous retinoschisis | DOID:12108 | Peripheral retinoschisis, retinal cysts | Bullous retinoschisis (disorder) | bullous retinoschisis | MONDO:0001435" +BMGC_DS05940,BMG_DS017803,OMIM ID:MTHU002188 | Vitreoretinal degeneration | MONDO:0020248 | Vitreoretinal degeneration (disorder) | vitreoretinal degeneration | UMLS ID:C0344290 | SNOMEDCT ID:247182006 +BMGC_DS05941,BMG_DS017805,SNOMEDCT ID:247199007 | choroidal sclerosis | Choroidal degeneration | Choroidal degeneration (disorder) | UMLS ID:C0344297 | MONDO:0004885 | OMIM ID:MTHU006953 | MeSH ID:C535358 | Choroidal sclerosis | DOID:980 | Choroidal sclerosis (finding) | SNOMEDCT ID:47638000 +BMGC_DS05942,BMG_DS017808,MONDO:0003748 | flying phobia | DOID:605 | UMLS ID:C0344318 +BMGC_DS05943,BMG_DS017824,"SNOMEDCT ID:251159007 | polymorphic ventricular tachycardia | Ventricular tachycardia, polymorphic | MONDO:0020575 | UMLS ID:C0344432 | Ventricular tachycardia, polymorphic (disorder)" +BMGC_DS05944,BMG_DS017826,MONDO:0003606 | UMLS ID:C0344456 | DOID:5719 | adrenal medulla cancer +BMGC_DS05945,BMG_DS017827,DOID:297 | pleomorphic adenoma carcinoma | MONDO:0002472 | UMLS ID:C0344460 | carcinoma ex pleomorphic adenoma +BMGC_DS05946,BMG_DS017829,MeSH ID:C536878 | MONDO:0008454 | OMIM ID:182990 | Spinal intradural arachnoid cysts | UMLS ID:C0344485 | spinal intradural arachnoid cysts +BMGC_DS05947,BMG_DS017833,UMLS ID:C0344516 | coloboma of eye lens | MONDO:0020355 +BMGC_DS05948,BMG_DS017834,cerulean cataract | UMLS ID:C0344523 | MONDO:0020374 +BMGC_DS05949,BMG_DS017836,MONDO:0000733 | cornea plana | UMLS ID:C0344529 +BMGC_DS05950,BMG_DS017837,MONDO:0009576 | DOID:0060305 | UMLS ID:C0344530 | megalocornea | OMIM ID:249300 +BMGC_DS05951,BMG_DS017838,UMLS ID:C0344542 | OMIM ID:106210 | MONDO:0024507 | aniridia 1 +BMGC_DS05952,BMG_DS017839,aniridia 2 | MONDO:0014937 | UMLS ID:C0344543 | OMIM ID:617141 +BMGC_DS05953,BMG_DS017841,MONDO:0011414 | OMIM ID:604229 | UMLS ID:C0344559 | Peters anomaly +BMGC_DS05954,BMG_DS017851,patent ductus venosus | UMLS ID:C0344688 | OMIM ID:601466 | MONDO:0011089 +BMGC_DS05955,BMG_DS017853,MONDO:0020429 | UMLS ID:C0344697 | cor triatriatum dexter +BMGC_DS05956,BMG_DS017859,"UMLS ID:C0344724 | atrial septal defect, ostium secundum type | MONDO:0020434" +BMGC_DS05957,BMG_DS017860,"MONDO:0020436 | UMLS ID:C0344730 | atrial septal defect, sinus venosus type" +BMGC_DS05958,BMG_DS017863,MONDO:0015249 | UMLS ID:C0344760 | mitral atresia disorder +BMGC_DS05959,BMG_DS017879,Dilatation of left cardiac ventricle (disorder) | SNOMEDCT ID:253541009 | Left cardiac ventricular dilatation | UMLS ID:C0344911 | Dilatation of left cardiac ventricle +BMGC_DS05960,BMG_DS017883,MONDO:0020291 | (Right hypoplastic heart syndrome) or (pseudotruncus arteriosus) | Right hypoplastic heart syndrome (disorder) | Pseudotruncus arteriosus | SNOMEDCT ID:204348000 | Right hypoplastic heart syndrome | hypoplastic right heart syndrome | SNOMEDCT ID:268180007 | (Right hypoplastic heart syndrome) or (pseudotruncus arteriosus) (disorder) | UMLS ID:C0344963 | DOID:0070315 +BMGC_DS05961,BMG_DS017884,UMLS ID:C0344975 | OMIM ID:265150 | MONDO:0009931 | pulmonary atresia-intact ventricular septum syndrome +BMGC_DS05962,BMG_DS017885,UMLS ID:C0344976 | MONDO:0008343 | OMIM ID:178370 | pulmonary atresia with ventricular septal defect +BMGC_DS05963,BMG_DS017889,MONDO:0001863 | UMLS ID:C0345010 | DOID:14037 | aorta atresia +BMGC_DS05964,BMG_DS017891,Peripheral pulmonary artery stenosis (disorder) | PPS - Peripheral pulmonary stenosis | SNOMEDCT ID:253631001 | UMLS ID:C0345030 | Peripheral pulmonary artery stenosis | OMIM ID:MTHU014956 +BMGC_DS05965,BMG_DS017894,"aortic aneurysm, familial thoracic 1 | OMIM ID:607086 | UMLS ID:C0345050 | MONDO:0024559" +BMGC_DS05966,BMG_DS017905,DOID:0080833 | UMLS ID:C0345160 | laryngomalacia +BMGC_DS05967,BMG_DS017916,"MONDO:0008738 | OMIM ID:202550 | aganglionosis, total intestinal | UMLS ID:C0345240" +BMGC_DS05968,BMG_DS017923,MONDO:0006904 | phimosis | UMLS ID:C0345326 +BMGC_DS05969,BMG_DS017925,UMLS ID:C0345345 | MONDO:0015195 | atresia of urethra +BMGC_DS05970,BMG_DS017929,UMLS ID:C0345375 | femoral agenesis/hypoplasia | MONDO:0016032 +BMGC_DS05971,BMG_DS017931,"UMLS ID:C0345407 | DOID:0110941 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 | autosomal recessive osteopetrosis 3 | OMIM ID:259730 | MONDO:0009818 | OMIM ID:611492" +BMGC_DS05972,BMG_DS017932,UMLS ID:C0345408 | MONDO:0007343 | isolated congenital digital clubbing | OMIM ID:119900 +BMGC_DS05973,BMG_DS017933,MONDO:0009055 | UMLS ID:C0345419 | OMIM ID:219250 | cutis marmorata telangiectatica congenita +BMGC_DS05974,BMG_DS017934,"UMLS ID:C0345424 | MONDO:0007358 | comedones, familial Dyskeratotic | OMIM ID:120450" +BMGC_DS05975,BMG_DS017949,MONDO:0021366 | DOID:5099 | middle ear cancer | UMLS ID:C0345617 | neoplasm of middle ear +BMGC_DS05976,BMG_DS017952,UMLS ID:C0345668 | ethmoidal sinus benign neoplasm | MONDO:0001764 | ethmoidal sinus neoplasm | DOID:1364 +BMGC_DS05977,BMG_DS017954,MONDO:0001757 | UMLS ID:C0345672 | frontal sinus neoplasm | DOID:1361 | frontal sinus benign neoplasm +BMGC_DS05978,BMG_DS017956,DOID:6947 | sphenoidal sinus benign neoplasm | UMLS ID:C0345676 | MONDO:0004047 | sphenoidal sinus neoplasm +BMGC_DS05979,BMG_DS017958,DOID:2597 | MONDO:0002353 | glottis neoplasm | UMLS ID:C0345713 +BMGC_DS05980,BMG_DS017959,MONDO:0004427 | UMLS ID:C0345726 | DOID:8002 | supraglottis neoplasm +BMGC_DS05981,BMG_DS017960,DOID:10069 | UMLS ID:C0345746 | subglottis neoplasm | subglottis benign neoplasm | MONDO:0000933 +BMGC_DS05982,BMG_DS017963,MONDO:0003970 | UMLS ID:C0345799 | gastric fundus carcinoma | DOID:6700 +BMGC_DS05983,BMG_DS017965,MONDO:0003972 | gastric body carcinoma | DOID:6705 | UMLS ID:C0345804 +BMGC_DS05984,BMG_DS017967,small intestine neoplasm | UMLS ID:C0345832 | DOID:7505 | MONDO:0004251 | small intestine benign neoplasm +BMGC_DS05985,BMG_DS017970,rectosigmoid junction neoplasm | DOID:2780 | UMLS ID:C0345873 | MONDO:0002423 +BMGC_DS05986,BMG_DS017972,MONDO:0017380 | UMLS ID:C0345893 | juvenile polyposis syndrome | OMIM ID:174900 +BMGC_DS05987,BMG_DS017974,DOID:3571 | liver cancer | UMLS ID:C0345904 | MONDO:0002691 +BMGC_DS05988,BMG_DS017975,UMLS ID:C0345905 | DOID:4928 | intrahepatic cholangiocarcinoma | MONDO:0003210 +BMGC_DS05989,BMG_DS017976,liver sarcoma | DOID:270 | UMLS ID:C0345906 | MONDO:0002397 +BMGC_DS05990,BMG_DS017977,UMLS ID:C0345907 | MONDO:0002387 | DOID:268 | liver angiosarcoma +BMGC_DS05991,BMG_DS017981,extrahepatic bile duct neoplasm | MONDO:0021385 | DOID:0050625 | UMLS ID:C0345913 | biliary tract benign neoplasm +BMGC_DS05992,BMG_DS017983,MONDO:0000921 | DOID:10022 | UMLS ID:C0345916 | ampulla of vater neoplasm | ampulla of Vater benign neoplasm +BMGC_DS05993,BMG_DS017986,trachea adenoid cystic carcinoma | MONDO:0006471 | DOID:4875 | UMLS ID:C0345945 | tracheal adenoid cystic carcinoma +BMGC_DS05994,BMG_DS017987,DOID:12003 | UMLS ID:C0345946 | MONDO:0001419 | trachea squamous cell carcinoma +BMGC_DS05995,BMG_DS017988,lung large cell carcinoma | DOID:4556 | UMLS ID:C0345958 | MONDO:0003050 +BMGC_DS05996,BMG_DS017989,UMLS ID:C0345959 | DOID:7267 | lung clear cell carcinoma +BMGC_DS05997,BMG_DS017990,lung giant cell carcinoma | DOID:5583 | UMLS ID:C0345960 | MONDO:0006275 +BMGC_DS05998,BMG_DS017992,UMLS ID:C0345964 | lung adenoma | MONDO:0003422 | DOID:5386 +BMGC_DS05999,BMG_DS017993,OMIM ID:156240 | UMLS ID:C0345967 | DOID:1790 | MONDO:0006292 | malignant mesothelioma +BMGC_DS06000,BMG_DS017996,MONDO:0004523 | UMLS ID:C0345978 | clear cell squamous cell skin carcinoma | DOID:8288 +BMGC_DS06001,BMG_DS017997,UMLS ID:C0345979 | 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,squamous cell papilloma of skin | DOID:7380 | UMLS ID:C0345983 | squamous cell skin papilloma | MONDO:0004204 +BMGC_DS06004,BMG_DS018002,UMLS ID:C0345988 | DOID:2433 | epidermal appendage tumor | MONDO:0002297 +BMGC_DS06005,BMG_DS018006,DOID:4322 | pilar sheath acanthoma | UMLS ID:C0346005 | MONDO:0006907 +BMGC_DS06006,BMG_DS018007,UMLS ID:C0346006 | DOID:8426 | MONDO:0004560 | follicular infundibulum tumor +BMGC_DS06007,BMG_DS018008,MeSH ID:D058249 | MONDO:0800445;MONDO:0800444 | OMIM ID:135150 | DOID:0050676 | Birt-Hogg-Dube syndrome | Birt-Hogg-Dube Syndrome | Birt-Hogg-Dube syndrome 1 | UMLS ID:C0346010 +BMGC_DS06008,BMG_DS018009,MONDO:0002948 | fibroepithelial basal cell carcinoma | UMLS ID:C0346013 | skin fibroepithelial basal cell carcinoma | DOID:4291 +BMGC_DS06009,BMG_DS018010,DOID:4871 | MONDO:0003180 | UMLS ID:C0346017 | cutaneous adenocystic carcinoma +BMGC_DS06010,BMG_DS018011,cutaneous mucoepidermoid carcinoma | DOID:4683 | UMLS ID:C0346019 | MONDO:0003091 +BMGC_DS06011,BMG_DS018013,eccrine mixed tumor of skin | UMLS ID:C0346026 | DOID:2079 | MONDO:0002200 +BMGC_DS06012,BMG_DS018016,DOID:2438 | dermis tumor | UMLS ID:C0346041 | MONDO:0002300 +BMGC_DS06013,BMG_DS018017,cutaneous fibrous histiocytoma | UMLS ID:C0346049 | DOID:4418 +BMGC_DS06014,BMG_DS018018,DOID:5769 | UMLS ID:C0346054 | MONDO:0003640 | verruciform xanthoma of skin +BMGC_DS06015,BMG_DS018020,cutaneous granular cell tumor | UMLS ID:C0346060 | skin granular cell tumor | DOID:2410 | MONDO:0002291 +BMGC_DS06016,BMG_DS018021,UMLS ID:C0346063 | cutaneous ganglioneuroma | MONDO:0002293 | DOID:2425 +BMGC_DS06017,BMG_DS018022,DOID:5132 | UMLS ID:C0346064 | leiomyoma cutis | MONDO:0003291 +BMGC_DS06018,BMG_DS018024,UMLS ID:C0346067 | DOID:5273 | cutaneous leiomyosarcoma | MONDO:0003362 +BMGC_DS06019,BMG_DS018026,UMLS ID:C0346072 | blue rubber bleb nevus | MONDO:0007203 | OMIM ID:112200 +BMGC_DS06020,BMG_DS018027,OMIM ID:607859 | MONDO:0011927 | UMLS ID:C0346073 | tufted angioma +BMGC_DS06021,BMG_DS018028,UMLS ID:C0346075 | angiokeratoma | DOID:479 +BMGC_DS06022,BMG_DS018030,UMLS ID:C0346081 | skin angiosarcoma | DOID:4517 | MONDO:0003029 +BMGC_DS06023,BMG_DS018032,skin glomus tumor | UMLS ID:C0346083 | MONDO:0002295 | DOID:2430 +BMGC_DS06024,BMG_DS018036,UMLS ID:C0346104 | MONDO:0010535 | Bazex-Dupre-Christol syndrome | OMIM ID:301845 +BMGC_DS06025,BMG_DS018037,peritoneal mesothelioma | malignant peritoneal mesothelioma | UMLS ID:C0346109 | MONDO:0005512 | DOID:1788 +BMGC_DS06026,BMG_DS018038,pericardial mesothelioma | DOID:6201 | UMLS ID:C0346110 +BMGC_DS06027,BMG_DS018041,benign lipomatous neoplasm | lipoma | DOID:3315 | UMLS ID:C0346118 | MONDO:0044983 +BMGC_DS06028,BMG_DS018042,UMLS ID:C0346151 | DOID:7578 | scirrhous breast carcinoma | breast scirrhous carcinoma | MONDO:0004288 +BMGC_DS06029,BMG_DS018043,UMLS ID:C0346153 | MONDO:0016419 | OMIM ID:114480 | hereditary breast carcinoma +BMGC_DS06030,BMG_DS018044,malignant breast phyllodes tumor | MONDO:0002489 | DOID:3016 | breast malignant phyllodes tumor | UMLS ID:C0346154 +BMGC_DS06031,BMG_DS018046,UMLS ID:C0346157 | breast giant fibroadenoma | DOID:7223 | MONDO:0004150 +BMGC_DS06032,BMG_DS018047,DOID:1618 | UMLS ID:C0346158 | breast fibroadenoma +BMGC_DS06033,BMG_DS018048,malignant epithelial tumor of ovary | UMLS ID:C0346161 | MONDO:0018364 +BMGC_DS06034,BMG_DS018049,DOID:5828 | UMLS ID:C0346163 | ovarian endometrioid adenocarcinoma | endometrioid ovary carcinoma | MONDO:0006335 +BMGC_DS06035,BMG_DS018052,undifferentiated ovarian carcinoma | MONDO:0006477 | UMLS ID:C0346167 +BMGC_DS06036,BMG_DS018053,MONDO:0005183 | ovarian cystadenoma | UMLS ID:C0346169 | DOID:3269 +BMGC_DS06037,BMG_DS018054,UMLS ID:C0346172 | DOID:3267 | mucinous ovarian cystadenoma | MONDO:0002583 +BMGC_DS06038,BMG_DS018057,MONDO:0018171 | UMLS ID:C0346180 | malignant germ cell tumor of ovary | DOID:2155 | malignant ovarian germ cell neoplasm +BMGC_DS06039,BMG_DS018058,choriocarcinoma of ovary | UMLS ID:C0346181 | DOID:5550 | MONDO:0003507 +BMGC_DS06040,BMG_DS018059,immature ovarian teratoma | UMLS ID:C0346182 | DOID:6331 | MONDO:0018369 | immature teratoma of ovary +BMGC_DS06041,BMG_DS018060,MONDO:0003581 | DOID:5681 | UMLS ID:C0346183 | ovarian embryonal carcinoma +BMGC_DS06042,BMG_DS018061,UMLS ID:C0346185 | dysgerminoma of ovary | DOID:5511 | MONDO:0003481 +BMGC_DS06043,BMG_DS018062,ovarian endodermal sinus tumor | DOID:5350 | ovarian yolk sac tumor | UMLS ID:C0346188 | MONDO:0006344 +BMGC_DS06044,BMG_DS018064,MONDO:0003315 | DOID:5172 | endometrium carcinoma in situ | UMLS ID:C0346191 +BMGC_DS06045,BMG_DS018065,DOID:5729 | intravenous leiomyomatosis | UMLS ID:C0346200 | MONDO:0003614 +BMGC_DS06046,BMG_DS018066,MONDO:0006134 | cervical adenosquamous carcinoma | DOID:5636 | UMLS ID:C0346202 +BMGC_DS06047,BMG_DS018069,UMLS ID:C0346239 | MONDO:0003283 | DOID:512 | epididymal neoplasm +BMGC_DS06048,BMG_DS018070,DOID:4463 | UMLS ID:C0346249 | multilocular clear cell renal cell carcinoma | MONDO:0003010 +BMGC_DS06049,BMG_DS018071,UMLS ID:C0346251 | MONDO:0002930 | kidney sarcoma | DOID:4242 +BMGC_DS06050,BMG_DS018072,kidney oncocytoma | renal oncocytoma | MONDO:0003825 | UMLS ID:C0346255 | DOID:6245 +BMGC_DS06051,BMG_DS018073,DOID:262 | kidney hemangiopericytoma | UMLS ID:C0346256 +BMGC_DS06052,BMG_DS018074,renal pelvis neoplasm | UMLS ID:C0346260 | renal pelvis benign neoplasm | MONDO:0003719 | DOID:5977 +BMGC_DS06053,BMG_DS018077,choroid plexus carcinoma | UMLS ID:C0346289 | MONDO:0002681 | choroid plexus cancer | DOID:5648 +BMGC_DS06054,BMG_DS018079,DOID:3184 | UMLS ID:C0346295 | MONDO:0002541 | spinal cord oligodendroglioma +BMGC_DS06055,BMG_DS018080,UMLS ID:C0346300 | MONDO:0017582 | pituitary carcinoma | DOID:4916 | pituitary adenocarcinoma +BMGC_DS06056,BMG_DS018081,UMLS ID:C0346302 | DOID:6255 | growth hormone secreting pituitary adenoma +BMGC_DS06057,BMG_DS018082,TSH producing pituitary tumor | UMLS ID:C0346303 | TSH-secreting pituitary adenoma | DOID:6275 | MONDO:0019611 +BMGC_DS06058,BMG_DS018086,UMLS ID:C0346326 | DOID:4992 | optic nerve glioma | MONDO:0003235 +BMGC_DS06059,BMG_DS018087,UMLS ID:C0346328 | DOID:5632 | optic nerve sheath meningioma | MONDO:0003557 +BMGC_DS06060,BMG_DS018089,UMLS ID:C0346331 | MONDO:0002432 | DOID:2814 | malignant neoplasm of acoustic nerve +BMGC_DS06061,BMG_DS018090,DOID:4870 | UMLS ID:C0346340 | MONDO:0006262 | lacrimal gland adenoid cystic carcinoma +BMGC_DS06062,BMG_DS018091,UMLS ID:C0346341 | DOID:298 | MONDO:0002475 | lacrimal gland adenocarcinoma +BMGC_DS06063,BMG_DS018092,DOID:296 | lacrimal gland carcinoma ex pleomorphic adenoma | UMLS ID:C0346342 | mixed lacrimal gland cancer | MONDO:0002469 +BMGC_DS06064,BMG_DS018093,UMLS ID:C0346347 | DOID:3259 | MONDO:0002580 | orbit rhabdomyosarcoma +BMGC_DS06065,BMG_DS018094,DOID:14463 | MONDO:0001975 | cavernous hemangioma of orbit | UMLS ID:C0346352 +BMGC_DS06066,BMG_DS018095,DOID:1748 | UMLS ID:C0346359 | conjunctival squamous cell carcinoma | MONDO:0006173 +BMGC_DS06067,BMG_DS018096,UMLS ID:C0346360 | malignant conjunctival melanoma | MONDO:0002096 | DOID:1751 +BMGC_DS06068,BMG_DS018098,MONDO:0001740 | cornea squamous cell carcinoma | UMLS ID:C0346366 | DOID:13538 +BMGC_DS06069,BMG_DS018099,MONDO:0004550 | malignant cornea melanoma | UMLS ID:C0346367 | DOID:8400 +BMGC_DS06070,BMG_DS018100,UMLS ID:C0346372 | iris cancer | MONDO:0002658 | DOID:3478 +BMGC_DS06071,BMG_DS018101,UMLS ID:C0346373 | DOID:6994 | MONDO:0004064 | malignant iris melanoma | iris melanoma +BMGC_DS06072,BMG_DS018103,malignant ciliary body melanoma | MONDO:0003912 | DOID:6524 | UMLS ID:C0346379 +BMGC_DS06073,BMG_DS018105,MONDO:0003878 | UMLS ID:C0346388 | malignant choroid melanoma | DOID:6438 +BMGC_DS06074,BMG_DS018107,adrenal cortex cancer | MONDO:0021312 | UMLS ID:C0346402 | malignant tumor of adrenal cortex | DOID:660 +BMGC_DS06075,BMG_DS018110,chronic eosinophilic leukemia | MONDO:0015687 | UMLS ID:C0346421 +BMGC_DS06076,BMG_DS018111,MONDO:0002376 | spleen angiosarcoma | UMLS ID:C0346424 | DOID:265 +BMGC_DS06077,BMG_DS018113,DOID:7696 | UMLS ID:C0346601 | lung hilum cancer +BMGC_DS06078,BMG_DS018114,DOID:116 | pericardium cancer | UMLS ID:C0346609 | MONDO:0001322 +BMGC_DS06079,BMG_DS018115,epicardium cancer | UMLS ID:C0346610 | DOID:4699 +BMGC_DS06080,BMG_DS018116,MONDO:0004749 | myocardium cancer | DOID:9299 | UMLS ID:C0346611 +BMGC_DS06081,BMG_DS018117,MONDO:0003687 | UMLS ID:C0346612 | endocardium cancer | DOID:5877 +BMGC_DS06082,BMG_DS018118,gastroesophageal cancer | MONDO:0850129 | UMLS ID:C0346619 +BMGC_DS06083,BMG_DS018119,MONDO:0005814 | intestinal cancer | UMLS ID:C0346627 | DOID:10155 +BMGC_DS06084,BMG_DS018120,colorectal cancer | MONDO:0005575 | DOID:9256;DOID:5672 | OMIM ID:114500 | UMLS ID:C0346629 | large intestine cancer +BMGC_DS06085,BMG_DS018121,malignant exocrine pancreas neoplasm | UMLS ID:C0346648 | DOID:1795 | MONDO:0002116 +BMGC_DS06086,BMG_DS018122,UMLS ID:C0346787 | DOID:4364 | MONDO:0002975 | malignant breast melanoma +BMGC_DS06087,BMG_DS018123,malignant dermis tumor | UMLS ID:C0346811 | DOID:5274 | MONDO:0003363 +BMGC_DS06088,BMG_DS018124,DOID:175 | UMLS ID:C0346845 | vascular cancer +BMGC_DS06089,BMG_DS018125,UMLS ID:C0346866 | MONDO:0001108 | DOID:10744 | broad ligament malignant neoplasm +BMGC_DS06090,BMG_DS018126,round ligament malignant neoplasm | DOID:11748 | UMLS ID:C0346867 | MONDO:0001352 +BMGC_DS06091,BMG_DS018127,DOID:6098 | thalamic neoplasm | UMLS ID:C0346902 | MONDO:0003766 | thalamic cancer +BMGC_DS06092,BMG_DS018129,cerebral ventricle cancer | DOID:3541 | UMLS ID:C0346906 +BMGC_DS06093,BMG_DS018130,UMLS ID:C0346935 | Kaposi's sarcoma | DOID:8632 +BMGC_DS06094,BMG_DS018131,Kaposi's sarcoma | UMLS ID:C0346936 | DOID:8632 +BMGC_DS06095,BMG_DS018132,malignant neoplasm of chest wall | UMLS ID:C0346948 | MONDO:0021323 | chest wall lymphoma | DOID:6758 +BMGC_DS06096,BMG_DS018133,metastatic malignant neoplasm in the colon | MONDO:0041447 | UMLS ID:C0346974 +BMGC_DS06097,BMG_DS018138,UMLS ID:C0347095 | DOID:6148 | nasal cavity carcinoma in situ | MONDO:0003784 +BMGC_DS06098,BMG_DS018146,UMLS ID:C0347139 | skin carcinoma in situ | DOID:8687 +BMGC_DS06099,BMG_DS018153,DOID:9310 | benign neoplasm of nasal cavity | UMLS ID:C0347215 | MONDO:0021475 | nasal cavity benign neoplasm +BMGC_DS06100,BMG_DS018160,benign neoplasm of large intestine | MONDO:0021444 | UMLS ID:C0347272 +BMGC_DS06101,BMG_DS018166,MONDO:0002536 | UMLS ID:C0347390 | skin papilloma | DOID:3178 +BMGC_DS06102,BMG_DS018167,UMLS ID:C0347394 | DOID:10188 | skin lipoma | MONDO:0000964 +BMGC_DS06103,BMG_DS018172,DOID:13743 | UMLS ID:C0347446 | spinal cord lipoma | MONDO:0001790 +BMGC_DS06104,BMG_DS018177,spinal meningioma | MONDO:0001275 | UMLS ID:C0347515 | DOID:1138 +BMGC_DS06105,BMG_DS018194,"UMLS ID:C0347869 | Epilepsy, Akinetic | Epilepsy, Generalized | MeSH ID:D004829" +BMGC_DS06106,BMG_DS018223,Congenital malformation syndromes associated with short stature (disorder) | SNOMEDCT ID:205808005 | UMLS ID:C0347915 | Congenital malformation syndromes associated with short stature +BMGC_DS06107,BMG_DS018225,MeSH ID:D011681 | UMLS ID:C0347925 | Non-Syphilitic Argyll-Robertson Pupil | Pupil Disorders +BMGC_DS06108,BMG_DS018229,SNOMEDCT ID:195981004 | SNOMEDCT ID:708038006 | Asthma NOS | Acute exacerbation of asthma | Asthma attack (disorder) | SNOMEDCT ID:155578006 | Asthma attack | Asthma: [NOS] or [attack] | Asthma: [NOS] or [attack] (disorder) | Acute exacerbation of asthma (disorder) | Asthma attack NOS | SNOMEDCT ID:266398009 | Asthma attack (& NOS) | Asthma attack (& NOS) (disorder) | SNOMEDCT ID:266364000 | SNOMEDCT ID:155579003 | UMLS ID:C0347950 +BMGC_DS06109,BMG_DS018352,DOID:1325 | UMLS ID:C0348343 | bronchus cancer +BMGC_DS06110,BMG_DS018353,urinary system cancer | UMLS ID:C0348371 | DOID:3996 +BMGC_DS06111,BMG_DS018354,UMLS ID:C0348374 | central nervous system cancer | DOID:3620 | MONDO:0002714 +BMGC_DS06112,BMG_DS018363,"ICD10 ID:E20.8 | Hypoparathyroidism, unspecified | DOID:0090109 | UMLS ID:C0348454 | autosomal dominant hypocalcemia | ICD11 ID:5A50.Z | Other hypoparathyroidism" +BMGC_DS06113,BMG_DS018365,"ICD11 ID:5A6Z | Disorders of the pituitary hormone system, unspecified | DOID:0090088 | ICD10 ID:E23.6 | UMLS ID:C0348457 | Other disorders of pituitary gland | hypogonadotropic hypogonadism 24 without anosmia" +BMGC_DS06114,BMG_DS018368,"Bartter disease type 2 | Bartter disease type 1 | UMLS ID:C0348460 | Bartter disease type 3 | Other hyperaldosteronism | Bartter disease type 4b | Bartter disease type 4a | ICD10 ID:E26.89 | Bartter disease type 5 | Hyperaldosteronism, unspecified | DOID:0110143;DOID:0110147;DOID:0110142;DOID:0110145;DOID:0110146;DOID:0110144 | ICD10 ID:E26.8 | ICD11 ID:5A72.Z" +BMGC_DS06115,BMG_DS018379,"methylmalonic acidemia cblA type | DOID:0090126;DOID:0060742;DOID:0060741;DOID:0060743 | Other disorders of branched-chain amino-acid metabolism | ICD10 ID:E71.19 | methylmalonic acidemia cblB type | Disorders of branchedchain amino acid metabolism, unspecified | branched-chain keto acid dehydrogenase kinase deficiency | ICD11 ID:5C50.DZ | methylmalonic acidemia due to transcobalamin receptor defect | UMLS ID:C0348484 | ICD10 ID:E71.1" +BMGC_DS06116,BMG_DS018384,"ICD11 ID:5D2Z | hypomyelinating leukodystrophy 6 | Other sphingolipidosis | hypomyelinating leukodystrophy 4 | Gaucher's disease perinatal lethal | Niemann-Pick disease type B | hypomyelinating leukodystrophy 2 | leukoencephalopathy with vanishing white matter | Metabolic disorders, unspecified | hypomyelinating leukodystrophy 9 | 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 | Niemann-Pick disease type C1 | Niemann-Pick disease type C2 | PCWH syndrome | UMLS ID:C0348489 | Gaucher's disease type II | ICD10 ID:E75.2 | Gaucher's disease type III | ICD10 ID:E75.29 | Niemann-Pick disease type A | hypomyelinating leukodystrophy 3 | Gaucher's disease type I | atypical Gaucher's disease due to saposin c deficiency" +BMGC_DS06117,BMG_DS018443,arrhythmogenic right ventricular dysplasia 6 | arrhythmogenic right ventricular dysplasia 9 | arrhythmogenic right ventricular dysplasia 11 | arrhythmogenic right ventricular dysplasia 12 | ICD10 ID:I42.8 | arrhythmogenic right ventricular dysplasia 5 | ICD11 ID:BC43.Y | UMLS ID:C0348617 | arrhythmogenic right ventricular dysplasia 4 | DOID:0110082;DOID:0110072;DOID:0110077;DOID:0110081;DOID:0110083;DOID:0110074;DOID:0110084;DOID:0110076;DOID:0110073;DOID:0110075 | Other specified cardiomyopathy | arrhythmogenic right ventricular dysplasia 3 | arrhythmogenic right ventricular dysplasia 10 | Other cardiomyopathies | arrhythmogenic right ventricular dysplasia 13 | arrhythmogenic right ventricular dysplasia 8 +BMGC_DS06118,BMG_DS018446,ICD10 ID:I49.8 | Brugada syndrome 1 | Other specified diseases of the circulatory system | Other specified cardiac arrhythmias | Brugada syndrome 9 | DOID:0110218;DOID:0110226 | UMLS ID:C0348626 | ICD11 ID:BE2Y +BMGC_DS06119,BMG_DS018518,"UMLS ID:C0348751 | DOID:0050674 | ICD10 ID:K76.8 | ICD10 ID:K76.89 | Other specified diseases of liver | ICD11 ID:DB9Z | congenital bile acid synthesis defect | Diseases of liver, unspecified" +BMGC_DS06120,BMG_DS018582,SNOMEDCT ID:186318004 | UMLS ID:C0348868 | Listerial endocarditis (disorder) | Listerial endocarditis | ICD10 ID:A32.82 +BMGC_DS06121,BMG_DS018590,"OMIM ID:609135 | Aplastic anemia, idiopathic | MeSH ID:C538494 | MONDO:0012197 | idiopathic aplastic anemia | UMLS ID:C0348890" +BMGC_DS06122,BMG_DS018595,ICD10 ID:K58.0 | Irritable bowel syndrome with diarrhea (disorder) | Irritable bowel syndrome with diarrhea | UMLS ID:C0348898 | Irritable bowel syndrome with diarrhoea | SNOMEDCT ID:197125005 +BMGC_DS06123,BMG_DS018617,"Other specified diabetes mellitus with unspecified complications | ICD11 ID:5A13 | UMLS ID:C0348932 | Other specified diabetes mellitus with unspecified complications (disorder) | Wolfram syndrome 1 | Diabetes mellitus, other specified type | DOID:0110629 | SNOMEDCT ID:190425002 | ICD10 ID:E13.8" +BMGC_DS06124,BMG_DS018663,"DOID:0080159 | Meningitis, Cryptococcal | MeSH ID:D016919 | Cryptococcal meningitis | UMLS ID:C0348991 | Cerebral Cryptococcosis" +BMGC_DS06125,BMG_DS018683,phobic disorder | UMLS ID:C0349231 | MONDO:0003699 | DOID:591 +BMGC_DS06126,BMG_DS018684,Nonorganic Insomnia | UMLS ID:C0349255 | MeSH ID:D007319 | Sleep Initiation and Maintenance Disorders +BMGC_DS06127,BMG_DS018713,MONDO:0010198 | Wernicke-Korsakoff syndrome | DOID:10915 | OMIM ID:277730 | UMLS ID:C0349464 +BMGC_DS06128,BMG_DS018726,MeSH ID:D005311 | Fetal Hypoxia | UMLS ID:C0349489 +BMGC_DS06129,BMG_DS018736,MONDO:0001778 | DOID:13691 | UMLS ID:C0349502 | dermoid cyst of skin +BMGC_DS06130,BMG_DS018737,MONDO:0005434 | UMLS ID:C0349506 | skin sensitivity to sun +BMGC_DS06131,BMG_DS018740,DOID:10054 | amelanotic skin melanoma | skin amelanotic melanoma | UMLS ID:C0349515 | MONDO:0005208 +BMGC_DS06132,BMG_DS018750,MONDO:0001060 | DOID:10541 | UMLS ID:C0349530 | microinvasive gastric cancer +BMGC_DS06133,BMG_DS018751,gastric lymphoma | UMLS ID:C0349532 | MONDO:0001059 | DOID:10540 +BMGC_DS06134,BMG_DS018752,UMLS ID:C0349534 | MONDO:0002941 | DOID:4284 | anal margin carcinoma +BMGC_DS06135,BMG_DS018753,UMLS ID:C0349535 | OMIM ID:114900 | MONDO:0021533 | intestinal neuroendocrine tumor G1 +BMGC_DS06136,BMG_DS018755,malignant anus melanoma | UMLS ID:C0349538 | DOID:14145 | MONDO:0006081 | anal melanoma +BMGC_DS06137,BMG_DS018756,UMLS ID:C0349539 | DOID:1992 | rectum malignant melanoma | MONDO:0002167 +BMGC_DS06138,BMG_DS018757,UMLS ID:C0349540 | MONDO:0003174 | DOID:4863 | spinal cord astrocytoma +BMGC_DS06139,BMG_DS018758,DOID:3073 | brain glioblastoma multiforme | UMLS ID:C0349543 | MONDO:0002501 | brain glioblastoma +BMGC_DS06140,BMG_DS018759,scrotum squamous cell carcinoma | DOID:13159 | MONDO:0001651 | UMLS ID:C0349551 +BMGC_DS06141,BMG_DS018761,gestational choriocarcinoma | DOID:2025 | MONDO:0020550 | UMLS ID:C0349557 +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 | MONDO:0000500 | DOID:0050865 | tongue squamous cell carcinoma +BMGC_DS06144,BMG_DS018766,neoplasm of pericardium | MONDO:0021381 | DOID:116 | UMLS ID:C0349574 | pericardium cancer +BMGC_DS06145,BMG_DS018768,UMLS ID:C0349576 | MONDO:0003574 | DOID:5665 | external ear cancer +BMGC_DS06146,BMG_DS018769,MONDO:0041161;MONDO:0006169 | DOID:0080365 | complex endometrial hyperplasia | obsolete endometrial hyperplasia | Complex Endometrial Hyperplasia | Endometrial Hyperplasia | endometrial hyperplasia | MeSH ID:D004714 | UMLS ID:C0349578 +BMGC_DS06147,BMG_DS018770,atypical endometrial hyperplasia | UMLS ID:C0349579 | Atypical Endometrial Hyperplasia | MONDO:0006096;MONDO:0041161 | DOID:0080365 | obsolete endometrial hyperplasia | Endometrial Hyperplasia | endometrial hyperplasia | MeSH ID:D004714 +BMGC_DS06148,BMG_DS018771,MONDO:0002555 | DOID:3202 | UMLS ID:C0349582 | neurilemmoma of the fifth cranial nerve | trigeminal schwannoma +BMGC_DS06149,BMG_DS018775,UMLS ID:C0349604 | DOID:0080842 | MONDO:0850302 | intracranial meningioma +BMGC_DS06150,BMG_DS018776,Central Nervous System Cysts | MONDO:0005262 | MeSH ID:D020863 | central nervous system cyst | UMLS ID:C0349606 +BMGC_DS06151,BMG_DS018781,cerebellar pilocytic astrocytoma | pilocytic astrocytoma of cerebellum | DOID:4853 | UMLS ID:C0349620 | MONDO:0003168 +BMGC_DS06152,BMG_DS018782,UMLS ID:C0349621 | DOID:1660 | malignant pineal area germ cell neoplasm +BMGC_DS06153,BMG_DS018783,MONDO:0003223 | meninges hemangiopericytoma | DOID:4957 | UMLS ID:C0349622 +BMGC_DS06154,BMG_DS018784,UMLS ID:C0349623 | DOID:4955 | central nervous system melanocytic neoplasm +BMGC_DS06155,BMG_DS018787,Richter syndrome | Richter's syndrome | MONDO:0002083 | DOID:1703 | UMLS ID:C0349631 +BMGC_DS06156,BMG_DS018789,MONDO:0017600 | DOID:713 | UMLS ID:C0349633 | HCL-V | hairy cell leukemia variant +BMGC_DS06157,BMG_DS018790,MONDO:0020511 | UMLS ID:C0349636 | precursor B-cell acute lymphoblastic leukemia +BMGC_DS06158,BMG_DS018791,OMIM ID:607785 | juvenile myelomonocytic leukemia | MONDO:0011908 | DOID:0050458 | UMLS ID:C0349639 +BMGC_DS06159,BMG_DS018794,UMLS ID:C0349644 | testicular lymphoma | MONDO:0001472 | DOID:12253 +BMGC_DS06160,BMG_DS018795,lung lymphangioleiomyomatosis | DOID:3319 | MONDO:0006277 | UMLS ID:C0349649 | lymphangioleiomyomatosis +BMGC_DS06161,BMG_DS018796,SNOMEDCT ID:277869007 | Non-tuberculous mycobacterial pneumonia (disorder) | Non-tuberculous mycobacterial pneumonia | UMLS ID:C0349650 +BMGC_DS06162,BMG_DS018797,UMLS ID:C0349653 | MONDO:0008907 | PMM2-congenital disorder of glycosylation | MeSH ID:C535739 | Congenital disorder of glycosylation type 1A | OMIM ID:212065 +BMGC_DS06163,BMG_DS018798,"MONDO:0008909 | MeSH ID:C562844 | congenital disorder of glycosylation, type i/IIx | OMIM ID:212067 | UMLS ID:C0349655 | Congenital Disorder Of Glycosylation, Type I-IIX" +BMGC_DS06164,BMG_DS018799,sarcomatoid squamous cell skin carcinoma | DOID:5536 | MONDO:0003499 | UMLS ID:C0349656 +BMGC_DS06165,BMG_DS018800,UMLS ID:C0349657 | MONDO:0002765 | DOID:3751 | plantar verrucous skin carcinoma +BMGC_DS06166,BMG_DS018805,bladder sarcoma | MONDO:0001374 | DOID:11812 | UMLS ID:C0349666 +BMGC_DS06167,BMG_DS018806,breast sarcoma | MONDO:0002490 | DOID:3017 | UMLS ID:C0349667 +BMGC_DS06168,BMG_DS018807,breast lymphoma | UMLS ID:C0349669 | DOID:5826 +BMGC_DS06169,BMG_DS018820,Hypoglossal Neuralgia | UMLS ID:C0349716 | Hypoglossal Nerve Diseases | MeSH ID:D020437 +BMGC_DS06170,BMG_DS018821,UMLS ID:C0349719 | Scrum pox | Cutaneous herpes simplex infection | Herpes simplex infection of skin (disorder) | SNOMEDCT ID:240475000 | Herpes simplex infection of skin +BMGC_DS06171,BMG_DS018825,Female pelvic cellulitis | UMLS ID:C0349734 | Female pelvic cellulitis (disorder) | SNOMEDCT ID:280486004 +BMGC_DS06172,BMG_DS018839,Diverticulitis of gastrointestinal tract (disorder) | Diverticulitis of gastrointestinal tract | UMLS ID:C0349774 | SNOMEDCT ID:271366000 +BMGC_DS06173,BMG_DS018843,MONDO:0016587 | arrhythmogenic right ventricular cardiomyopathy | Arrhythmogenic Right Ventricular Dysplasia | DOID:0050431 | UMLS ID:C0349788 | MeSH ID:D019571 +BMGC_DS06174,BMG_DS018844,UMLS ID:C0349790 | acute asthma | MONDO:0850283 +BMGC_DS06175,BMG_DS018850,MONDO:0006920 | prediabetes syndrome | DOID:11716 | UMLS ID:C0362046 +BMGC_DS06176,BMG_DS018854,UMLS ID:C0375071 | MONDO:0001528 | DOID:1245 | vulva cancer +BMGC_DS06177,BMG_DS018856,UMLS ID:C0375197 | DOID:14559 | anaerobic meningitis +BMGC_DS06178,BMG_DS018857,DOID:1713 | Benign shuddering attacks | SNOMEDCT ID:446995005 | Shuddering attacks | benign shuddering attacks | MONDO:0002085 | Shuddering attacks (disorder) | UMLS ID:C0375200 +BMGC_DS06179,BMG_DS018863,Acute endocarditis | DOID:10314 | UMLS ID:C0375268 | Acute endocarditis (disorder) | endocarditis | SNOMEDCT ID:91357005 +BMGC_DS06180,BMG_DS018864,UMLS ID:C0375275 | carotid artery occlusion | DOID:807 +BMGC_DS06181,BMG_DS018867,ICD10 ID:J15.4 | ICD11 ID:CA40.0Y | Pneumonia due to other specified bacteria | Pneumonia due to other streptococci | UMLS ID:C0375326 +BMGC_DS06182,BMG_DS018868,UMLS ID:C0375327 | DOID:873 | anaerobic pneumonia +BMGC_DS06183,BMG_DS018872,ulcerative colitis | UMLS ID:C0375359 | Chronic left-sided ulcerative colitis | DOID:8577 | SNOMEDCT ID:441971007 | Chronic left-sided ulcerative colitis (disorder) +BMGC_DS06184,BMG_DS018879,DOID:13461 | urethral intrinsic sphincter deficiency | UMLS ID:C0375381 | MONDO:0001721 | Urethral intrinsic sphincter deficiency | SNOMEDCT ID:16031000119101 | Urethral intrinsic sphincter deficiency (finding) +BMGC_DS06185,BMG_DS018881,DOID:10123 | UMLS ID:C0375489 | pigmentation disease +BMGC_DS06186,BMG_DS018883,MONDO:0001337 | inflamed seborrheic keratosis | UMLS ID:C0376117 | DOID:11685 +BMGC_DS06187,BMG_DS018884,"UMLS ID:C0376171 | Necrotizing Hemorrhagic Encephalomyelitis | Leukoencephalitis, Acute Hemorrhagic | MeSH ID:D004684" +BMGC_DS06188,BMG_DS018885,Bell Palsy | UMLS ID:C0376175 | MONDO:0005665 | DOID:12506 | Bell's palsy | MeSH ID:D020330 +BMGC_DS06189,BMG_DS018886,"Hypoaldosteronism | hyperkalemic renal tubular acidosis | UMLS ID:C0376185 | MONDO:0100161 | Hypoaldosteronism, Hyporeninemic | MeSH ID:D006994" +BMGC_DS06190,BMG_DS018888,SNOMEDCT ID:85670002 | Vitamin deficiency | Avitaminosis | MeSH ID:D001361 | UMLS ID:C0376286 | (Other vitamin deficiency) or (avitaminosis) (disorder) | SNOMEDCT ID:154729006 | (Other vitamin deficiency) or (avitaminosis) | Hypovitaminosis | Vitamin deficiency (disorder) | SNOMEDCT ID:267494000 | Other vitamin deficiency +BMGC_DS06191,BMG_DS018889,SNOMEDCT ID:70449006 | Amaurosis (disorder) | UMLS ID:C0376288 | OMIM ID:MTHU023011 | Amaurosis | Blindness | MeSH ID:D001766 +BMGC_DS06192,BMG_DS018890,MONDO:0000248 | MeSH ID:D019595 | Dengue Shock Syndrome | dengue shock syndrome | Severe Dengue | UMLS ID:C0376300 +BMGC_DS06193,BMG_DS018892,MONDO:0015528 | congenital epulis | UMLS ID:C0376319 | DOID:7280 +BMGC_DS06194,BMG_DS018893,UMLS ID:C0376323 | MeSH ID:D049970 | Graves Ophthalmopathy | Graves ophthalmopathy | DOID:0081120 | Congestive Ophthalmopathy +BMGC_DS06195,BMG_DS018894,Creutzfeldt-Jakob Syndrome | MeSH ID:D007562 | New Variant Creutzfeldt-Jakob Disease | variant Creutzfeldt-Jakob disease | UMLS ID:C0376329 | MONDO:0007012 +BMGC_DS06196,BMG_DS018895,MeSH ID:D011293 | DOID:727 | Premenstrual Tension | Premenstrual Syndrome | UMLS ID:C0376356 | MONDO:0004169 | premenstrual tension +BMGC_DS06197,BMG_DS018896,UMLS ID:C0376358 | 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 | MONDO:0005663 | DOID:6692 | Barre-Lieou syndrome | MeSH ID:D055010 +BMGC_DS06201,BMG_DS018902,"Myocardial Stunning | Hibernation, Myocardial | MeSH ID:D017682 | UMLS ID:C0376416" +BMGC_DS06202,BMG_DS018903,UMLS ID:C0376480 | DOID:3086 | MONDO:0002507 | gingival overgrowth +BMGC_DS06203,BMG_DS018904,UMLS ID:C0376524 | MeSH ID:D019280 | Branchio-Oculo-Facial Syndrome | branchiooculofacial syndrome | OMIM ID:113620 | MONDO:0007235 | Branchio-Oto-Renal Syndrome +BMGC_DS06204,BMG_DS018905,skull base neoplasm | UMLS ID:C0376527 | MONDO:0002785 | skull base cancer | DOID:3842 +BMGC_DS06205,BMG_DS018906,"MONDO:0007295 | DOID:3329 | MeSH ID:D019305 | Epilepsy, Rolandic | OMIM ID:117100 | UMLS ID:C0376532 | benign epilepsy with centrotemporal spikes | childhood epilepsy with centrotemporal spikes" +BMGC_DS06206,BMG_DS018908,DOID:2531 | UMLS ID:C0376544 | hematopoietic and lymphoid cell neoplasm | MONDO:0044881 | hematologic cancer +BMGC_DS06207,BMG_DS018912,Endotoxic shock | MeSH ID:D019446 | Endotoxaemia | SNOMEDCT ID:371770009 | UMLS ID:C0376618 | Gram-negative septic shock | SNOMEDCT ID:82042006 | Endotoxemia | Endotoxemia (disorder) | Gram-negative shock | Endotoxic shock (disorder) +BMGC_DS06208,BMG_DS018914,"alcoholic pancreatitis | MONDO:0003232 | MeSH ID:D019512 | DOID:4988 | UMLS ID:C0376670 | Pancreatitis, Alcoholic" +BMGC_DS06209,BMG_DS018915,UMLS ID:C0376685 | Shoulder Impingement Syndrome | MONDO:0006968 | MeSH ID:D019534 | shoulder impingement syndrome | DOID:14276 +BMGC_DS06210,BMG_DS018918,MeSH ID:D019559 | Clinical Capillary Leak Syndrome | Capillary Leak Syndrome | UMLS ID:C0376704 +BMGC_DS06211,BMG_DS018919,"Hernia, Hiatal | hiatus hernia | DOID:12642 | MeSH ID:D006551 | Esophageal Hernia | UMLS ID:C0376710" +BMGC_DS06212,BMG_DS018921,MeSH ID:C536919 | Tietz syndrome | MONDO:0007077 | UMLS ID:C0391816 | DOID:0090002 | OMIM ID:103500 +BMGC_DS06213,BMG_DS018926,Cowden syndrome | Lhermitte-Duclos disease | UMLS ID:C0391826 | MONDO:0019002 | DOID:6457 +BMGC_DS06214,BMG_DS018929,erythropoietin polycythemia | MONDO:0002440 | UMLS ID:C0391869 | DOID:2839 +BMGC_DS06215,BMG_DS018933,Cervical Sympathetic Dystrophy | UMLS ID:C0391959 | Reflex Sympathetic Dystrophy | MeSH ID:D012019 +BMGC_DS06216,BMG_DS018944,Testicular infarct | SNOMEDCT ID:33793000 | testicular infarct | MONDO:0003279 | Testicular infarction | DOID:5104 | Infarction of testis (disorder) | Infarction of testis | UMLS ID:C0392041 +BMGC_DS06217,BMG_DS018947,MONDO:0003069 | DOID:4639 | Suppurative lymphadenitis | suppurative lymphadenitis | SNOMEDCT ID:48573006 | UMLS ID:C0392051 | Suppurative lymphadenopathy (disorder) | Suppurative lymphadenopathy +BMGC_DS06218,BMG_DS018953,SNOMEDCT ID:75403004 | DOID:13405 | cardiac sarcoidosis | MONDO:0001707 | Cardiac sarcoidosis (disorder) | Cardiac sarcoidosis | UMLS ID:C0392077 +BMGC_DS06219,BMG_DS018958,tracheomalacia | UMLS ID:C0392109 | DOID:0060313 +BMGC_DS06220,BMG_DS018964,UMLS ID:C0392163 | Superficial ulcer of cornea | Corneal erosion (disorder) | Corneal erosion | SNOMEDCT ID:50792001 +BMGC_DS06221,BMG_DS018965,UMLS ID:C0392164 | Cystic Fibrosis | Pulmonary Cystic Fibrosis | MeSH ID:D003550 +BMGC_DS06222,BMG_DS018970,SNOMEDCT ID:109257007 | Radiation-induced mucositis | Mucositis following radiation therapy | Mucositis following radiation therapy (disorder) | UMLS ID:C0392190 | Ulcerative mucositis due to radiation +BMGC_DS06223,BMG_DS018974,DOID:1790 | UMLS ID:C0392400 | malignant mesothelioma +BMGC_DS06224,BMG_DS018975,Benign pemphigus | Benign pemphigus (disorder) | Pemphigoid | SNOMEDCT ID:200902009 | UMLS ID:C0392436 | SNOMEDCT ID:86142006 | Pemphigoid (disorder) +BMGC_DS06225,BMG_DS018976,"Pustular psoriasis of palms and soles (disorder) | SNOMEDCT ID:27520001 | Palmoplantar pustulosis | Recalcitrant pustular eruption of palms and soles | Pustular psoriasis of palms and soles | PPP - Palmoplantar pustulosis | Pustular acrodermatitis | Dermatitis repens | UMLS ID:C0392439 | Pustulosis palmaris et plantaris | psoriasis 14, pustular | Acrodermatitis perstans | Acropustulosis | OMIM ID:614204 | Palmoplantar pustular psoriasis | MONDO:0013626 | Acrodermatitis continua of Hallopeau | Chronic palmoplantar pustular psoriasis | Acrodermatitis continua of Hallopeau (disorder) | SNOMEDCT ID:83839005" +BMGC_DS06226,BMG_DS018979,MeSH ID:D009335 | Necrobiosis Lipoidica | Necrobiosis Lipoidica Diabeticorum | UMLS ID:C0392445 +BMGC_DS06227,BMG_DS018987,"ICD11 ID:BC63.Z | Wolff-Parkinson-White syndrome | ICD10 ID:I45.6 | SNOMEDCT ID:17869006 | Anomalous atrioventricular excitation | Anomalous atrioventricular excitation (disorder) | UMLS ID:C0392470 | SNOMEDCT ID:195057009 | Conduction disorders, unspecified | DOID:384" +BMGC_DS06228,BMG_DS018988,OMIM ID:268300 | SNOMEDCT ID:48718006 | Hypomelia hypotrichosis facial haemangioma syndrome | Hypomelia-hypotrichosis-facial hemangioma syndrome | Roberts syndrome | Roberts-SC phocomelia syndrome (disorder) | UMLS ID:C0392475 | DOID:5325 | Hypomelia-hypotrichosis-facial haemangioma syndrome | OMIM ID:269000 | Roberts-SC phocomelia syndrome | MONDO:0100253 | Pseudothalidomide syndrome | Robert's syndrome | Hypomelia hypotrichosis facial hemangioma syndrome +BMGC_DS06229,BMG_DS018989,MONDO:0001251 | Chronic periapical periodontitis | Chronic periradicular periodontitis | chronic apical periodontitis | SNOMEDCT ID:718052004 | UMLS ID:C0392492 | DOID:11269 | Asymptomatic periapical periodontitis | CAP - chronic apical periodontitis | Asymptomatic periapical periodontitis (disorder) | Chronic apical periodontitis +BMGC_DS06230,BMG_DS018990,ICD10 ID:K14.3 | Hypertrophy of tongue papillae (disorder) | SNOMEDCT ID:6971002 | ICD11 ID:DA03.4 | UMLS ID:C0392494 | MONDO:0001689 | DOID:13333 | Hypertrophy of tongue papillae | hypertrophy of tongue papillae +BMGC_DS06231,BMG_DS018996,Iron storage disease | von Recklinghausen-Appelbaum disease | Bronzed diabetes | Pigmentary cirrhosis of liver | Hereditary hemochromatosis (disorder) | Hereditary haemochromatosis | ICD10 ID:E83.110 | MONDO:0006507 | Bronzed cirrhosis | von Recklinghausen-Applebaum disease | SNOMEDCT ID:86781004 | Primary haemochromatosis | Hemochromatosis | SNOMEDCT ID:35400008 | Hereditary hemochromatosis | Familial hemochromatosis | Hemochromatosis (disorder) | hereditary hemochromatosis | Primary hemochromatosis | Idiopathic haemochromatosis | Haemochromatosis | UMLS ID:C0392514 | Familial haemochromatosis | Idiopathic hemochromatosis | SNOMEDCT ID:190845003 | Hereditary haemochromatosis (disorder) +BMGC_DS06232,BMG_DS018998,SNOMEDCT ID:95570007 | Nephrolith | Renal calculus | Kidney calculus (& [staghorn]) | Kidney calculus (& [staghorn]) (disorder) | Calculus of kidney | UMLS ID:C0392525 | Nephrolithiasis (disorder) | SNOMEDCT ID:56491003 | nephrolithiasis | SNOMEDCT ID:155868000 | Staghorn calculus | Kidney stone (disorder) | Kidney calculus | Kidney stone | OMIM ID:MTHU007103 | SNOMEDCT ID:266623004 | MONDO:0008171 | MeSH ID:D053040 | Nephrolithiasis | Renal stone +BMGC_DS06233,BMG_DS019001,MeSH ID:D000077684 | DOID:11577 | Cauda Equina Syndrome | MONDO:0005693 | Cauda equina syndrome | UMLS ID:C0392548 | cauda equina syndrome +BMGC_DS06234,BMG_DS019003,"hemiplegia | Hemiplegia, Infantile | Hemiplegia | MeSH ID:D006429 | UMLS ID:C0392550 | DOID:10969" +BMGC_DS06235,BMG_DS019004,Hereditary peripheral neuropathy (disorder) | Peroneal muscular atrophy | HSMN - Hereditary sensory and motor neuropathy | DOID:0050539 | Charcot-Marie-Tooth disease type 2 | SNOMEDCT ID:193158000 | Hereditary motor and sensory neuropathy (disorder) | Hereditary sensorimotor neuropathy | SNOMEDCT ID:65017003 | HMSN - Hereditary motor and sensory neuropathy | CMT - Charcot-Marie-Tooth disease | Hereditary peripheral neuropathy | Hereditary sensory-motor neuropathy | UMLS ID:C0392553 | Hereditary motor and sensory neuropathy | SNOMEDCT ID:128202008 | HSMN | Charcot-Marie-Tooth disease | HMSN | Hereditary sensory and motor neuropathy +BMGC_DS06236,BMG_DS019009,UMLS ID:C0392607 | ICD10 ID:D81.31 | Severe combined immunodeficiency due to adenosine deaminase deficiency | MeSH ID:C531816 +BMGC_DS06237,BMG_DS019023,Herpes simplex without mention of complication | UMLS ID:C0392646 | Herpes simplex viral infection | Herpes simplex (disorder) | SNOMEDCT ID:88594005 | Herpes simplex complex | Herpes simplex | Herpes simplex infection +BMGC_DS06238,BMG_DS019024,Measles | UMLS ID:C0392650 | Rubeola | Morbilli | Measles without mention of complication | Measles (disorder) | SNOMEDCT ID:14189004 +BMGC_DS06239,BMG_DS019028,MeSH ID:C536369 | UMLS ID:C0392662 | DOID:0050256 | Angiostrongyliasis | MONDO:0019143 | angiostrongyliasis +BMGC_DS06240,BMG_DS019036,UMLS ID:C0392788 | extranodal nasal NK/T cell lymphoma | MONDO:0019472 +BMGC_DS06241,BMG_DS019037,MONDO:0003792 | UMLS ID:C0392998 | DOID:6170 | ovarian carcinosarcoma +BMGC_DS06242,BMG_DS019064,Non-infective meningitis | UMLS ID:C0393442 | Non-infective meningitis (disorder) | SNOMEDCT ID:230155003 +BMGC_DS06243,BMG_DS019099,UMLS ID:C0393484 | Encephalitis | MeSH ID:D004660 | Rasmussen Syndrome +BMGC_DS06244,BMG_DS019118,"MeSH ID:D013132 | UMLS ID:C0393519 | Spinocerebellar Degenerations | Cerebellar Ataxia, Early Onset" +BMGC_DS06245,BMG_DS019123,"MeSH ID:D013132 | Cerebellar Ataxia, Late Onset | Spinocerebellar Degenerations | UMLS ID:C0393524" +BMGC_DS06246,BMG_DS019124,OMIM ID:MTHU001770 | UMLS ID:C0393525 | SNOMEDCT ID:230233000 | Progressive cerebellar ataxia (disorder) | Progressive cerebellar ataxia +BMGC_DS06247,BMG_DS019135,"spinal muscular atrophy, type II | Muscular Atrophy, Spinal, Type II | intermediate spinal muscular atrophy | Spinal Muscular Atrophies of Childhood | DOID:0050530 | OMIM ID:253550 | MeSH ID:D014897 | UMLS ID:C0393538 | MONDO:0009673" +BMGC_DS06248,BMG_DS019136,"Bulbar Palsy, Progressive | UMLS ID:C0393540 | Childhood Progressive Bulbar Palsy | MeSH ID:D010244" +BMGC_DS06249,BMG_DS019137,"distal hereditary motor neuropathy | Distal Spinal Muscular Atrophy | MONDO:0018894 | Muscular Atrophy, Spinal | UMLS ID:C0393541 | MeSH ID:D009134" +BMGC_DS06250,BMG_DS019141,"UMLS ID:C0393546 | MeSH ID:D009134 | Muscular Atrophy, Spinal | Oculopharyngeal Spinal Muscular Atrophy" +BMGC_DS06251,BMG_DS019142,"bulbospinal muscular atrophy | UMLS ID:C0393547 | Muscular Atrophy, Spinal | MeSH ID:D009134 | Bulbospinal Neuronopathy | MONDO:0016113" +BMGC_DS06252,BMG_DS019145,Madras-type motor neurone disease (disorder) | Madras motor neuron disease | MONDO:0015307 | Madras-type motor neurone disease | UMLS ID:C0393551 | SNOMEDCT ID:230255008 +BMGC_DS06253,BMG_DS019148,UMLS ID:C0393554 | MeSH ID:D000690 | Amyotrophic Lateral Sclerosis | Amyotrophic Lateral Sclerosis With Dementia +BMGC_DS06254,BMG_DS019150,MONDO:0015150 | Complicated hereditary spastic paraplegia (disorder) | Complicated hereditary spastic paraplegia | complex hereditary spastic paraplegia | UMLS ID:C0393556 | SNOMEDCT ID:230261006 +BMGC_DS06255,BMG_DS019152,Troyer syndrome | MONDO:0010156 | Troyer syndrome (disorder) | SNOMEDCT ID:230264003 | OMIM ID:275900 | MeSH ID:C536858 | UMLS ID:C0393559 +BMGC_DS06256,BMG_DS019153,"MeSH ID:D015140 | Vascular Dementia, Acute Onset | UMLS ID:C0393560 | Dementia, Vascular" +BMGC_DS06257,BMG_DS019154,"MeSH ID:D015140 | Dementia, Vascular | Subcortical Vascular Dementia | UMLS ID:C0393561" +BMGC_DS06258,BMG_DS019160,MONDO:0007803 | UMLS ID:C0393571 | DOID:4752 | multiple system atrophy +BMGC_DS06259,BMG_DS019162,"Huntington Disease | MeSH ID:D006816 | UMLS ID:C0393574 | Huntington Disease, Late Onset" +BMGC_DS06260,BMG_DS019164,Choreoacanthocytosis (disorder) | neuroacanthocytosis | chorea-acanthocytosis | choreaacanthocytosis | SNOMEDCT ID:66881004 | MeSH ID:D054546 | Choreoacanthocytosis | OMIM ID:200150 | MONDO:0008695;MONDO:0016987 | Neuroacanthocytosis | DOID:0050766;DOID:0050765 | UMLS ID:C0393576 +BMGC_DS06261,BMG_DS019170,Chorea | OMIM ID:118700 | hereditary progressive chorea without dementia | UMLS ID:C0393584 | MeSH ID:D002819 | MONDO:0021011 | Benign Hereditary Chorea +BMGC_DS06262,BMG_DS019174,paroxysmal dystonia | UMLS ID:C0393588 | MONDO:0016058 +BMGC_DS06263,BMG_DS019176,Idiopathic nonarteriosclerotic cerebrovascular calcification | Fahr's syndrome (disorder) | Cerebrovascular ferrocalcinosis | SNOMEDCT ID:110997000 | Fahr disease | UMLS ID:C0393590 | Fahr's syndrome | Cerebral symmetric calcification | Fahr syndrome | basal ganglia calcification | DOID:0060230 +BMGC_DS06264,BMG_DS019177,MONDO:0018866 | UMLS ID:C0393591 | MeSH ID:C535607 | Aicardi-Goutieres syndrome | ICD10 ID:E79.81 +BMGC_DS06265,BMG_DS019179,UMLS ID:C0393593 | MeSH ID:D020821 | DOID:543 | Dystonia Disorders | dystonia | Dystonic Disorders +BMGC_DS06266,BMG_DS019182,"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 | familial idiopathic torsion dystonia | ICD11 ID:8A02.0Z | torsion dystonia 1 | dystonia 25 | X-linked dystonia-parkinsonism | torsion dystonia 6 | dystonia 27 | Genetic torsion dystonia | torsion dystonia 4 | torsion dystonia 13 | Idiopathic familial dystonia (disorder) | SNOMEDCT ID:230318005 | torsion dystonia 17 | ICD10 ID:G24.1 | dystonia 21 | dopa-responsive dystonia | Primary dystonia, unspecified | torsion dystonia 2 | Idiopathic familial dystonia | generalized dystonia | UMLS ID:C0393598 | SNOMEDCT ID:192852006 | MONDO:0044816 | myoclonic dystonia 11" +BMGC_DS06267,BMG_DS019185,Idiopathic non-familial dystonia | acquired idiopathic torsion dystonia | Idiopathic non-familial dystonia (disorder) | UMLS ID:C0393601 | SNOMEDCT ID:230321007 | DOID:0050835 | MONDO:0044817 | generalized dystonia +BMGC_DS06268,BMG_DS019196,Familial Tremor | MeSH ID:D020329 | Essential Tremor | UMLS ID:C0393615 +BMGC_DS06269,BMG_DS019204,MONDO:0015247 | MeSH ID:D053578 | Opsoclonus-Myoclonus Syndrome | UMLS ID:C0393626 | opsoclonus-myoclonus syndrome +BMGC_DS06270,BMG_DS019213,steroid-responsive encephalopathy associated with autoimmune thyroiditis | Hashimoto's encephalitis | UMLS ID:C0393639 | MeSH ID:C535841 | MONDO:0019385 +BMGC_DS06271,BMG_DS019232,"Multiple Sclerosis, Acute Relapsing | UMLS ID:C0393664 | MeSH ID:D020529 | Multiple Sclerosis, Relapsing-Remitting" +BMGC_DS06272,BMG_DS019233,"MeSH ID:D020528 | chronic progressive multiple sclerosis | Multiple Sclerosis, Chronic Progressive | MONDO:0005284 | UMLS ID:C0393665" +BMGC_DS06273,BMG_DS019234,"MeSH ID:D020528 | progressive relapsing multiple sclerosis | DOID:0050785 | Multiple Sclerosis, Chronic Progressive | UMLS ID:C0393666 | MONDO:0000452 | Multiple Sclerosis, Progressive Relapsing" +BMGC_DS06274,BMG_DS019235,"Extrapontine Myelinolysis | UMLS ID:C0393667 | Myelinolysis, Central Pontine | MeSH ID:D017590" +BMGC_DS06275,BMG_DS019239,"UMLS ID:C0393671 | Epilepsy, Frontal Lobe | Frontal Epilepsy, Benign, Childhood | MeSH ID:D017034" +BMGC_DS06276,BMG_DS019240,"Epilepsy, Benign Psychomotor, Childhood | MeSH ID:D004833 | UMLS ID:C0393672 | Epilepsy, Temporal Lobe" +BMGC_DS06277,BMG_DS019243,"MeSH ID:D004828 | UMLS ID:C0393675 | Epilepsies, Partial | Childhood Benign Occipital Epilepsy" +BMGC_DS06278,BMG_DS019244,"UMLS ID:C0393676 | Panayiotopoulos Syndrome | MeSH ID:D004828 | self-limited epilepsy with autonomic seizures | MONDO:0020307 | Epilepsies, Partial" +BMGC_DS06279,BMG_DS019247,"UMLS ID:C0393679 | MeSH ID:D004828 | Amygdalo-Hippocampal Epilepsy | Epilepsies, Partial" +BMGC_DS06280,BMG_DS019249,"UMLS ID:C0393681 | MeSH ID:D004828 | Epilepsies, Partial | Rhinencephalic Epilepsy" +BMGC_DS06281,BMG_DS019250,"Epilepsy, Temporal Lobe | UMLS ID:C0393682 | Epilepsy, Lateral Temporal | MeSH ID:D004833" +BMGC_DS06282,BMG_DS019251,"Epilepsy, Supplementary Motor | Epilepsy, Frontal Lobe | MeSH ID:D017034 | UMLS ID:C0393683" +BMGC_DS06283,BMG_DS019252,"UMLS ID:C0393684 | Epilepsy, Cingulate | Epilepsy, Frontal Lobe | MeSH ID:D017034" +BMGC_DS06284,BMG_DS019254,"Epilepsy, Frontal Lobe | Epilepsy, Opercular | MeSH ID:D017034 | UMLS ID:C0393688" +BMGC_DS06285,BMG_DS019257,"UMLS ID:C0393691 | MeSH ID:D004828 | Epilepsies, Partial | Occipital Lobe Epilepsy" +BMGC_DS06286,BMG_DS019259,"Epilepsy, Benign Neonatal | MeSH ID:D020936 | Benign Neonatal Epilepsy, Nonfamilial | MONDO:0018981 | benign idiopathic neonatal seizures | UMLS ID:C0393693" +BMGC_DS06287,BMG_DS019260,"MeSH ID:D004831 | Epilepsies, Myoclonic | Early Childhood Epilepsy, Myoclonic | UMLS ID:C0393695" +BMGC_DS06288,BMG_DS019262,"DOID:0050562 | MeSH ID:D013036 | Spasms, Infantile | Cryptogenic Infantile Spasms | UMLS ID:C0393698 | West syndrome" +BMGC_DS06289,BMG_DS019263,"DOID:0050562 | MeSH ID:D013036 | Symptomatic Infantile Spasms | Spasms, Infantile | UMLS ID:C0393699 | West syndrome" +BMGC_DS06290,BMG_DS019266,"UMLS ID:C0393702 | MONDO:0016025 | myoclonic-astatic epilepsy | Epilepsies, Myoclonic | Myoclonic Astatic Epilepsy | MeSH ID:D004831" +BMGC_DS06291,BMG_DS019267,"epilepsy with myoclonic absences | Epilepsies, Myoclonic | Myoclonic Absence Epilepsy | UMLS ID:C0393703 | MeSH ID:D004831 | MONDO:0019487" +BMGC_DS06292,BMG_DS019268,Early infantile epileptic encephalopathy with suppression bursts (disorder) | SNOMEDCT ID:230429005 | MONDO:0100062 | Early infantile epileptic encephalopathy with suppression bursts | Ohtahara syndrome | UMLS ID:C0393706 | developmental and epileptic encephalopathy +BMGC_DS06293,BMG_DS019275,"MeSH ID:D020195 | Reflex Epilepsy, Photosensitive | photosensitive epilepsy | MONDO:0015643 | Epilepsy, Reflex | UMLS ID:C0393720" +BMGC_DS06294,BMG_DS019279,MONDO:0002340 | tactile epilepsy | DOID:2550 | UMLS ID:C0393724 +BMGC_DS06295,BMG_DS019283,"Epilepsy, Reflex | Immersion Related Epilepsy | UMLS ID:C0393729 | MeSH ID:D020195" +BMGC_DS06296,BMG_DS019286,MeSH ID:D013226 | Complex Partial Status Epilepticus | UMLS ID:C0393734 | Status Epilepticus +BMGC_DS06297,BMG_DS019287,MONDO:0021146 | UMLS ID:C0393735 | MeSH ID:D020773 | Headache Disorders | headache disorder +BMGC_DS06298,BMG_DS019291,UMLS ID:C0393739 | MeSH ID:D003027 | Episodic Cluster Headache | Cluster Headache +BMGC_DS06299,BMG_DS019295,MeSH ID:D003027 | Cluster Headache | UMLS ID:C0393744 | Atypical Cluster Headache +BMGC_DS06300,BMG_DS019306,"circadian rhythm sleep disorder, delayed sleep phase type | MeSH ID:D020178 | MONDO:0024377 | UMLS ID:C0393770 | Sleep Disorders, Circadian Rhythm | Delayed Sleep Phase Syndrome" +BMGC_DS06301,BMG_DS019309,Sleep Bruxism | DOID:2846 | Sleep-Related Bruxism | UMLS ID:C0393774 | MeSH ID:D020186 | bruxism +BMGC_DS06302,BMG_DS019312,isolated congenital anosmia | UMLS ID:C0393778 | OMIM ID:107200 | MONDO:0007137 +BMGC_DS06303,BMG_DS019316,"UMLS ID:C0393786 | MeSH ID:D014277 | Trigeminal Neuralgia | Trigeminal Neuralgia, Idiopathic" +BMGC_DS06304,BMG_DS019317,UMLS ID:C0393787 | Trigeminal Neuralgia | Secondary Trigeminal Neuralgia | MeSH ID:D014277 +BMGC_DS06305,BMG_DS019322,ICD10 ID:G61.0 | Acute inflammatory demyelinating polyneuropathy | MONDO:0005851 | Miller Fisher Syndrome | ICD11 ID:8C01.0 | UMLS ID:C0393799 | DOID:12889 | Miller Fisher syndrome | MeSH ID:D019846 +BMGC_DS06306,BMG_DS019327,"Hereditary motor and sensory neuropathy with optic atrophy (disorder) | Hereditary motor and sensory neuropathy with optic atrophy | Hereditary motor-sensory neuropathy with optic atrophy | hereditary motor and sensory neuropathy type 6 | SNOMEDCT ID:128203003 | Hereditary motor-sensory neuropathy, type VI | HMSN VI | Hereditary sensory and motor neuropathy, type VI | MONDO:0019551 | UMLS ID:C0393807 | Hereditary motor and sensory neuropathy type VI" +BMGC_DS06307,BMG_DS019328,"Charcot-Marie-Tooth disease, X-linked, 1 | OMIM ID:302800 | Charcot-Marie-Tooth disease X-linked dominant 1 | MONDO:0010549 | MeSH ID:C535919 | UMLS ID:C0393808" +BMGC_DS06308,BMG_DS019330,Hereditary liability to pressure palsies (disorder) | Hereditary liability to pressure palsies | SNOMEDCT ID:230558006 | Tomaculous neuropathy | MONDO:0008087 | UMLS ID:C0393814 | hereditary neuropathy with liability to pressure palsies | DOID:0060843 | OMIM ID:162500 +BMGC_DS06309,BMG_DS019334,"MONDO:0006702 | UMLS ID:C0393819 | chronic inflammatory demyelinating polyradiculoneuropathy | MeSH ID:D020277 | DOID:5213;DOID:2536 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | chronic inflammatory demyelinating polyneuritis" +BMGC_DS06310,BMG_DS019350,UMLS ID:C0393835 | MeSH ID:D003929 | Diabetic Neuropathies | Diabetic Asymmetric Polyneuropathy +BMGC_DS06311,BMG_DS019362,"critical illness polyneuropathy | MeSH ID:D011115 | Polyneuropathies | UMLS ID:C0393851 | Polyneuropathy, Critical Illness | MONDO:0001957 | DOID:14402" +BMGC_DS06312,BMG_DS019399,Segmental Autonomic Dysfunction | MeSH ID:D001342 | UMLS ID:C0393912 | Autonomic Nervous System Diseases +BMGC_DS06313,BMG_DS019411,FIM - Familial infantile myasthenia | Familial infantile myasthenia (disorder) | congenital myasthenic syndrome 6 | SNOMEDCT ID:230670003 | MONDO:0009689 | UMLS ID:C0393929 | Familial infantile myasthenia | OMIM ID:254210 +BMGC_DS06314,BMG_DS019420,MeSH ID:D020511 | Neuromuscular Junction Diseases | Neuromuscular Junction Toxic Disorders | UMLS ID:C0393939 +BMGC_DS06315,BMG_DS019430,Anterior Cerebral Circulation Infarction | MeSH ID:D020520 | Brain Infarction | UMLS ID:C0393953 +BMGC_DS06316,BMG_DS019457,MeSH ID:D004678 | Encephalomalacia | UMLS ID:C0393992 | Multicystic Encephalomalacia +BMGC_DS06317,BMG_DS019465,"MeSH ID:D002547 | Cerebral Palsy | Cerebral Palsy, Dystonic-Rigid | UMLS ID:C0394003" +BMGC_DS06318,BMG_DS019468,"Cerebellar ataxia, intellectual disability, dysequilibrium syndrome | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome | CAMRQ syndrome | Non-progressive cerebellar ataxia, intellectual disability syndrome | cerebellar ataxia, intellectual disability, and dysequilibrium | DOID:0050997 | DES - dysequilibrium syndrome | MONDO:0009133 | UMLS ID:C0394006 | Uner Tan syndrome | SNOMEDCT ID:230782004 | Dysequilibrium syndrome | Dysequilibrium syndrome (disorder) | Disequilibrium syndrome | SNOMEDCT ID:213341009" +BMGC_DS06319,BMG_DS019469,"MeSH ID:D002547 | Cerebral Palsy | hypotonic cerebral palsy | Cerebral Palsy, Atonic | MONDO:0020695 | UMLS ID:C0394007" +BMGC_DS06320,BMG_DS019474,"UMLS ID:C0394016 | MeSH ID:D020207 | Coma, Post-Head Injury" +BMGC_DS06321,BMG_DS019477,psychogenic polydipsia | MONDO:0040871 | UMLS ID:C0395005 +BMGC_DS06322,BMG_DS019493,malignant otitis externa caused by Pseudomonas aeruginosa | MONDO:0041095 | SNOMEDCT ID:232230009 | UMLS ID:C0395818 | Malignant otitis externa caused by Pseudomonas aeruginosa | Malignant otitis externa caused by Pseudomonas aeruginosa (disorder) +BMGC_DS06323,BMG_DS019512,Congenital stricture of osseous meatus | (Stenosis of external auditory canal) or (congenital stricture: [external auditory canal] or [osseous meatus]) (disorder) | SNOMEDCT ID:204231005 | UMLS ID:C0395837 | Congenital stricture of external auditory canal | (Stenosis of external auditory canal) or (congenital stricture: [external auditory canal] or [osseous meatus]) | Stenosis of external auditory canal (disorder) | Stenosis of ear canal | SNOMEDCT ID:301061006 | Stenosis of external auditory canal +BMGC_DS06324,BMG_DS019515,Chronic tympanitis (disorder) | ICD11 ID:AB15 | Chronic myringitis | UMLS ID:C0395849 | DOID:11217 | chronic tympanitis | SNOMEDCT ID:89723004 | Chronic tympanitis | MONDO:0001227 | ICD10 ID:H73.1 +BMGC_DS06325,BMG_DS019520,Blue drum syndrome | blue drum syndrome | SNOMEDCT ID:52353000 | Acute mucoid otitis media (disorder) | Acute mucoid otitis media | Acute non-suppurative otitis media - mucoid | DOID:9736 | UMLS ID:C0395863 | MONDO:0004865 +BMGC_DS06326,BMG_DS019521,Acute sanguineous otitis media | Acute non-suppurative otitis media - sanguinous | MONDO:0002737 | Acute non-suppurative otitis media with haemotympanum | Acute non-suppurative otitis media with hemotympanum | acute sanguinous otitis media | Acute non-suppurative otitis media - bloody | UMLS ID:C0395865 | Acute sanguineous otitis media (disorder) | SNOMEDCT ID:77478005 | DOID:3696 | Acute sanguinous otitis media +BMGC_DS06327,BMG_DS019552,Vestibular Neuronitis | Recurrent Vestibular Neuritis | UMLS ID:C0395932 | MeSH ID:D020338 +BMGC_DS06328,BMG_DS019558,"Tinnitus, Noise Induced | UMLS ID:C0395955 | Tinnitus | MeSH ID:D014012" +BMGC_DS06329,BMG_DS019607,Chronic tonsillitis | ICD10 ID:J35.02 | SNOMEDCT ID:232420002 | (Chronic tonsillitis) or (chronic adenoiditis) | SNOMEDCT ID:195794009 | (Chronic tonsillitis) or (chronic adenoiditis) (disorder) | DOID:0050145 | UMLS ID:C0396023 | adenoiditis | Chronic adenoiditis | Chronic adenoiditis (disorder) +BMGC_DS06330,BMG_DS019628,UMLS ID:C0396059 | SNOMEDCT ID:232442001 | OMIM ID:150260 | Congenital laryngeal abductor paralysis | Congenital laryngeal abductor palsy (disorder) | laryngeal abductor paralysis | Gerhardt syndrome | MONDO:0007876 | Congenital laryngeal abductor palsy | SNOMEDCT ID:253738002 +BMGC_DS06331,BMG_DS019629,Congenital laryngeal adductor palsy (disorder) | Congenital laryngeal adductor palsy | OMIM ID:150270 | UMLS ID:C0396060 | Congenital laryngeal adductor paralysis | SNOMEDCT ID:232443006 | MONDO:0007877 | SNOMEDCT ID:253739005 | laryngeal adductor paralysis +BMGC_DS06332,BMG_DS019636,laryngeal papillomatosis | UMLS ID:C0396072 | MONDO:0023597 +BMGC_DS06333,BMG_DS019642,Thrombophlebitis migrans | Migratory thrombophlebitis | Trousseau's syndrome | SNOMEDCT ID:31268005 | Thrombophlebitis migrans (disorder) | UMLS ID:C0398359 +BMGC_DS06334,BMG_DS019647,lymphatic malformation | UMLS ID:C0398368 | MONDO:0019313 +BMGC_DS06335,BMG_DS019649,OMIM ID:614103 | UMLS ID:C0398370 | Lipedema (disorder) | Lipoedema | Lipedema | MONDO:0013577 | SNOMEDCT ID:234102003 | MeSH ID:D065134 +BMGC_DS06336,BMG_DS019669,SNOMEDCT ID:234405009 | UMLS ID:C0398562 | TPI - Thiose phosphate isomerase deficiency | Triose phosphate isomerase deficiency (disorder) | Deficiency of triosephosphate mutase | Deficiency of phosphotriose isomerase | Triose phosphate isomerase deficiency +BMGC_DS06337,BMG_DS019672,SNOMEDCT ID:234411007 | UMLS ID:C0398568 | Blood group deletion syndrome (disorder) | McLeod syndrome | MONDO:0018945 | DOID:0112107 | McLeod neuroacanthocytosis syndrome | Blood group deletion syndrome | OMIM ID:300842 +BMGC_DS06338,BMG_DS019689,Specific granule deficiency | MONDO:0009506 | SGD - Specific granule deficiency | UMLS ID:C0398593 | specific granule deficiency | Specific granule deficiency (disorder) | SNOMEDCT ID:234431006 +BMGC_DS06339,BMG_DS019690,UMLS ID:C0398595 | Myeloperoxidase Deficiency | MONDO:0009694 | OMIM ID:254600 | myeloperoxidase deficiency | MeSH ID:C562864 +BMGC_DS06340,BMG_DS019708,SNOMEDCT ID:95840007 | ICD10 ID:E88.02 | MeSH ID:C580017 | UMLS ID:C0398621 | Plasminogen deficiency | DOID:0111592 | Hypoplasminogenaemia | Hypoplasminogenemia | Hypoplasminogenemia (disorder) | plasminogen deficiency type I +BMGC_DS06341,BMG_DS019710,SNOMEDCT ID:191302007 | OMIM ID:MTHU054815 | MeSH ID:D019851 | Thrombophilia (disorder) | DOID:2452 | MONDO:0002305 | Thrombophilia | SNOMEDCT ID:234467004 | UMLS ID:C0398623 | thrombophilia +BMGC_DS06342,BMG_DS019711,UMLS ID:C0398625 | DOID:3756 | MeSH ID:D020151 | Protein C Deficiency | protein C deficiency +BMGC_DS06343,BMG_DS019712,heparin cofactor II deficiency | MONDO:0012876 | UMLS ID:C0398626 | Heparin cofactor II deficiency (disorder) | SNOMEDCT ID:234468009 | DOID:0111901 | OMIM ID:612356 | Heparin cofactor II deficiency | heparin cofactor 2 deficiency +BMGC_DS06344,BMG_DS019719,SNOMEDCT ID:234477002 | UMLS ID:C0398635 | platelet-type bleeding disorder 14 | MONDO:0013597 | Thromboxane synthetase deficiency (disorder) | OMIM ID:614158 | Thromboxane synthetase deficiency +BMGC_DS06345,BMG_DS019732,ICD11 ID:3B64.10 | Immune thrombocytopenic purpura (disorder) | SNOMEDCT ID:234490009 | UMLS ID:C0398650 | ITP - immune thrombocytopenic purpura | ICD10 ID:D69.3 | autoimmune thrombocytopenic purpura | MONDO:0008558 | DOID:8924 | Idiopathic thrombocytopenic purpura | OMIM ID:188030 | SNOMEDCT ID:32273002 | Immune thrombocytopenic purpura +BMGC_DS06346,BMG_DS019737,chronic congestive splenomegaly | MONDO:0001367 | ICD11 ID:3B81.C | Chronic congestive splenomegaly | DOID:11787 | ICD10 ID:D73.2 | UMLS ID:C0398661 | SNOMEDCT ID:191382009 | Chronic congestive splenomegaly (disorder) +BMGC_DS06347,BMG_DS019749,SNOMEDCT ID:111936002 | Cerebral sarcoidosis (disorder) | DOID:13403 | neurosarcoidosis | UMLS ID:C0398676 | MONDO:0001706 | cerebral sarcoidosis | Cerebral sarcoidosis +BMGC_DS06348,BMG_DS019757,Primary immune deficiency disorder (disorder) | SNOMEDCT ID:58606001 | Primary immunodeficiency | UMLS ID:C0398686 | Primary immune deficiency disorder | MONDO:0003778 | inborn error of immunity +BMGC_DS06349,BMG_DS019760,"UMLS ID:C0398689 | OMIM ID:308230 | X-linked hyper IgM syndrome | hyper-IgM syndrome type 1 | MeSH ID:D053307 | DOID:6620 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | MONDO:0010626" +BMGC_DS06350,BMG_DS019761,hyperimmunoglobulinemia D with periodic fever | MeSH ID:D054078 | Hyperimmunoglobulinemia D | DOID:0050452 | Mevalonate Kinase Deficiency | mevalonic aciduria | OMIM ID:260920 | UMLS ID:C0398691 | MONDO:0009849 +BMGC_DS06351,BMG_DS019763,SNOMEDCT ID:234540007 | DOID:6024 | selective IgE deficiency disease | MONDO:0003738 | Selective immunoglobulin E deficiency | Selective IgE deficiency | UMLS ID:C0398694 | Selective immunoglobulin E deficiency (disorder) +BMGC_DS06352,BMG_DS019764,Selective IgD deficiency | Selective immunoglobulin D deficiency | Selective immunoglobulin D deficiency (disorder) | MONDO:0004165 | UMLS ID:C0398695 | selective IgD deficiency disease | DOID:7263 | SNOMEDCT ID:234541006 +BMGC_DS06353,BMG_DS019778,OMIM ID:269650 | Secretory Component Deficiency | MeSH ID:C562869 | secretory component deficiency | UMLS ID:C0398709 | MONDO:0010019 +BMGC_DS06354,BMG_DS019799,leukocyte adhesion deficiency 1 | Leukocyte adhesion deficiency type 1 | MeSH ID:C535887 | OMIM ID:116920 | MONDO:0007293 | UMLS ID:C0398738 +BMGC_DS06355,BMG_DS019800,"Congenital disorder of glycosylation, type 2C | MeSH ID:C535755 | leukocyte adhesion deficiency type II | UMLS ID:C0398739 | MONDO:0009953 | DOID:0070255 | OMIM ID:266265 | congenital disorder of glycosylation type IIc" +BMGC_DS06356,BMG_DS019801,Tuftsin Deficiency | Tuftsin deficiency | MONDO:0008613 | OMIM ID:191150 | UMLS ID:C0398741 | MeSH ID:C562872 +BMGC_DS06357,BMG_DS019805,OMIM ID:266130 | MONDO:0009947 | UMLS ID:C0398746 | SNOMEDCT ID:234589002 | Glutathione synthetase deficiency | Glutathione synthetase deficiency (disorder) | glutathione synthetase deficiency with 5-oxoprolinuria | Gluthathione synthetase deficiency | Pyroglutamicaciduria +BMGC_DS06358,BMG_DS019806,SNOMEDCT ID:234590006 | Gluthathione peroxidase deficiency (disorder) | gluthathione peroxidase deficiency | OMIM ID:614164 | UMLS ID:C0398747 | MONDO:0013601 | Gluthathione peroxidase deficiency +BMGC_DS06359,BMG_DS019808,immunodeficiency due to a classical component pathway complement deficiency | SNOMEDCT ID:234593008 | Classical complement pathway abnormality (disorder) | UMLS ID:C0398750 | MONDO:0015699 | Classical complement pathway abnormality +BMGC_DS06360,BMG_DS019820,Properdin deficiency disease (disorder) | Properdin deficiency disease | UMLS ID:C0398762 | Properdin deficiency | X-linked properdin deficiency | DOID:0111768 | SNOMEDCT ID:81166004 +BMGC_DS06361,BMG_DS019822,UMLS ID:C0398764 | MONDO:0013487 | Complement Factor D Deficiency | recurrent Neisseria infections due to factor D deficiency | MeSH ID:C565027 | OMIM ID:613912 +BMGC_DS06362,BMG_DS019823,MONDO:0015700 | Terminal component deficiency | immunodeficiency due to a late component of complement deficiency | UMLS ID:C0398765 | SNOMEDCT ID:234608003 | Terminal component deficiency (disorder) +BMGC_DS06363,BMG_DS019833,Hereditary angio-oedema - type 1 | SNOMEDCT ID:234619000 | Hereditary angioneurotic oedema - type 1 | Hereditary C1 esterase inhibitor deficiency - deficient factor | Hereditary angioedema - type 1 | C1 esterase inhibitor deficiency - type 1 | UMLS ID:C0398775 | Hereditary C1 esterase inhibitor deficiency - deficient factor (disorder) | Hereditary angioneurotic edema - type 1 +BMGC_DS06364,BMG_DS019834,Hereditary C1 esterase inactivity | Hereditary angioedema - type 2 | hereditary angioedema type 2 | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | Hereditary angio-oedema - type 2 | UMLS ID:C0398776 | MONDO:0015054 | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor (disorder) | C1 esterase inhibitor deficiency - type 2 | SNOMEDCT ID:234620006 | Hereditary angioneurotic oedema - type 2 | Hereditary angioneurotic edema - type 2 +BMGC_DS06365,BMG_DS019835,MeSH ID:C562875 | MONDO:0012350 | OMIM ID:609814 | Complement Factor H Deficiency | complement factor H deficiency | UMLS ID:C0398777 +BMGC_DS06366,BMG_DS019840,MeSH ID:C562876 | MONDO:0008910 | Carboxypeptidase N Deficiency | UMLS ID:C0398782 | DOID:0111583 | carboxypeptidase N deficiency | OMIM ID:212070 +BMGC_DS06367,BMG_DS019846,"immunodeficiency-centromeric instability-facial anomalies syndrome | Immunodeficiency syndrome, variable | MONDO:0000133 | UMLS ID:C0398788 | MeSH ID:C537362" +BMGC_DS06368,BMG_DS019849,MeSH ID:D049932 | DOID:7400 | Nijmegen Breakage Syndrome | MONDO:0009623 | Nijmegen breakage syndrome | UMLS ID:C0398791 | OMIM ID:251260 +BMGC_DS06369,BMG_DS019852,Chediak-Higashi-like syndrome | UMLS ID:C0398794 | Hypopigmentation-immunodeficiency disease (disorder) | SNOMEDCT ID:37548006 | MONDO:0018306 | Partial albinism with immunodeficiency | Griscelli syndrome | Hypopigmentation-immunodeficiency disease | Griscelli syndrome with immunodeficiency +BMGC_DS06370,BMG_DS019858,ICD10 ID:K03 | UMLS ID:C0399347 | Other diseases of hard tissues of teeth +BMGC_DS06371,BMG_DS019859,DOID:0050591;DOID:13714 | anodontia | tooth agenesis | OMIM ID:206780 | UMLS ID:C0399352 | MONDO:0008797 +BMGC_DS06372,BMG_DS019864,amelogenesis imperfecta type 1 | MONDO:0015047 | UMLS ID:C0399367 +BMGC_DS06373,BMG_DS019865,"amelogenesis imperfecta type 1B | UMLS ID:C0399368 | Amelogenesis Imperfecta, Type IB | MeSH ID:C562879 | MONDO:0007092 | OMIM ID:104500" +BMGC_DS06374,BMG_DS019866,MONDO:0015048 | UMLS ID:C0399372 | amelogenesis imperfecta type 2 +BMGC_DS06375,BMG_DS019867,"SNOMEDCT ID:109472008 | UMLS ID:C0399373 | Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism | Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism (disorder) | Amelogenesis imperfecta - hypomaturation - autosomal dominant - hypoplastic with taurodontism" +BMGC_DS06376,BMG_DS019868,"Amelogenesis Imperfecta, Type III | hypocalcified amelogenesis imperfecta | MONDO:0968955 | DOID:0111721 | amelogenesis imperfecta type 3 | MeSH ID:C562880 | UMLS ID:C0399376" +BMGC_DS06377,BMG_DS019870,dentinogenesis imperfecta type 3 | OMIM ID:125500 | UMLS ID:C0399378 | MONDO:0007442 +BMGC_DS06378,BMG_DS019871,"UMLS ID:C0399379 | OMIM ID:125400 | Dentin dysplasia, type 1 | MONDO:0007436 | dentin dysplasia type I | MeSH ID:C538215" +BMGC_DS06379,BMG_DS019879,enamel erosion | Tooth substance loss | Tooth surface loss | UMLS ID:C0399400 | Tooth surface loss (disorder) | DOID:2497 | SNOMEDCT ID:234977009 +BMGC_DS06380,BMG_DS019898,Hereditary gingival fibromatosis (disorder) | UMLS ID:C0399440 | MONDO:0016070 | gingival fibromatosis | Hereditary fibrous enlargement of gingiva | hereditary gingival fibromatosis | DOID:0060466 | SNOMEDCT ID:109620006 | Hereditary gingival fibromatosis +BMGC_DS06381,BMG_DS019931,OMIM ID:176700 | autosomal dominant prognathism | UMLS ID:C0399526 | MONDO:0008312 +BMGC_DS06382,BMG_DS019957,OMIM ID:120500 | UMLS ID:C0399605 | MONDO:0007359 | commissural lip pits +BMGC_DS06383,BMG_DS019965,"UMLS ID:C0400821 | Colitis, Microscopic | DOID:0060182 | MeSH ID:D046728 | MONDO:0000702 | microscopic colitis" +BMGC_DS06384,BMG_DS019966,"UMLS ID:C0400822 | MeSH ID:D046730 | Colitis, Lymphocytic | DOID:0060184 | MONDO:0000704 | lymphocytic colitis" +BMGC_DS06385,BMG_DS019967,Neutropenic colitis (disorder) | UMLS ID:C0400823 | SNOMEDCT ID:235755005 | Neutropenic colitis +BMGC_DS06386,BMG_DS019972,ICD11 ID:DB52 | Ulcer of anus | DOID:13662 | Ulcer of anus and rectum | ulcer of anus and rectum | MONDO:0001772 | ICD10 ID:K62.6 | UMLS ID:C0400832 +BMGC_DS06387,BMG_DS019991,Postoperative ileus | UMLS ID:C0400877 | Postoperative ileus (disorder) | SNOMEDCT ID:235833007 +BMGC_DS06388,BMG_DS020017,SNOMEDCT ID:235866006 | ICD11 ID:1E50.2 | ICD10 ID:B17.1 | Acute hepatitis C | Acute hepatitis C (disorder) | UMLS ID:C0400914 +BMGC_DS06389,BMG_DS020020,Chronic viral hepatitis B with delta-agent | SNOMEDCT ID:186638006 | Chronic viral hepatitis B with hepatitis D | Chronic viral hepatitis B with hepatitis D (disorder) | UMLS ID:C0400918 | SNOMEDCT ID:235869004 +BMGC_DS06390,BMG_DS020022,SNOMEDCT ID:235878005 | Vascular disorder of liver | DOID:272 | hepatic vascular disorder | Vascular disorder of liver (disorder) | MONDO:0002405 | hepatic vascular disease | UMLS ID:C0400923 +BMGC_DS06391,BMG_DS020054,"MONDO:0009381 | UMLS ID:C0400964 | hyperbilirubinemia, conjugated, type 3 | Hyperbilirubinemia, Conjugated, Type III | OMIM ID:237550 | MeSH ID:C562885" +BMGC_DS06392,BMG_DS020056,DOID:0080208 | UMLS ID:C0400966 | metabolic dysfunction-associated steatotic liver disease | MeSH ID:D065626 | Non-alcoholic Fatty Liver Disease | MONDO:0013209 +BMGC_DS06393,BMG_DS020112,MONDO:0044751 | (Chronic diarrhoea) or (other non-infective gastroenteritis and colitis NOS) (disorder) | OMIM ID:MTHU004140 | SNOMEDCT ID:197034002 | chronic diarrheal disease | SNOMEDCT ID:236071009 | (Chronic diarrhoea) or (other non-infective gastroenteritis and colitis NOS) | Chronic diarrhea | Chronic diarrhea (disorder) | Other non-infective gastroenteritis and colitis NOS | (Chronic diarrhea) or (other non-infective gastroenteritis and colitis NOS) | UMLS ID:C0401151 | Chronic diarrhoea +BMGC_DS06394,BMG_DS020150,MeSH ID:D009404 | UMLS ID:C0403396 | nephrotic syndrome of childhood - steroid sensitive | MONDO:0044781 | Nephrotic Syndrome | Steroid-Sensitive Nephrotic Syndrome +BMGC_DS06395,BMG_DS020151,Steroid-resistant nephrotic syndrome | SRNS - Steroid-resistant nephrotic syndrome | SNOMEDCT ID:236381000 | UMLS ID:C0403397 | MONDO:0044765 | steroid-resistant nephrotic syndrome | Steroid-resistant nephrotic syndrome (disorder) | Steroid-unresponsive nephrotic syndrome | OMIM ID:MTHU062745 +BMGC_DS06396,BMG_DS020152,MeSH ID:D009404 | UMLS ID:C0403398 | Nephrotic Syndrome | Steroid-Dependent Nephrotic Syndrome +BMGC_DS06397,BMG_DS020153,"UMLS ID:C0403399 | SNOMEDCT ID:197601003 | CNF - Finnish congenital nephrotic syndrome | Finnish congenital nephrotic syndrome (disorder) | DOID:0080390 | OMIM ID:256300 | Congenital Finnish nephrosis | Finnish congenital nephrotic syndrome | congenital nephrotic syndrome, Finnish type | nephrotic syndrome type 1 | MONDO:0009732" +BMGC_DS06398,BMG_DS020165,acute poststreptococcal glomerulonephritis | PSGN - post-streptococcal glomerulonephritis | DOID:14064 | UMLS ID:C0403414 | Post-streptococcal glomerulonephritis | MONDO:0001870 | Acute glomerulonephritis due to and following streptococcal infection | Acute glomerulonephritis due to and following streptococcal infection (disorder) | Acute post-streptococcal glomerulonephritis | SNOMEDCT ID:68544003 +BMGC_DS06399,BMG_DS020167,Idiopathic crescentic glomerulonephritis (disorder) | UMLS ID:C0403416 | Crescentic glomerulonephritis (disorder) | Proliferative crescentic glomerulonephritis | crescentic glomerulonephritis | DOID:13139 | CGN - Crescentic glomerulonephritis | SNOMEDCT ID:236398000 | MONDO:0001645 | Idiopathic crescentic glomerulonephritis | SNOMEDCT ID:45406000 | Crescentic glomerulonephritis +BMGC_DS06400,BMG_DS020189,"MONDO:0008071 | OMIM ID:161900 | Renal Failure, Progressive, with Hypertension | MeSH ID:C562889 | UMLS ID:C0403443 | autosomal dominant progressive nephropathy with hypertension" +BMGC_DS06401,BMG_DS020192,"UMLS ID:C0403447 | MeSH ID:D051436 | Renal Insufficiency, Chronic | Chronic Kidney Insufficiency" +BMGC_DS06402,BMG_DS020202,End stage renal failure on dialysis | UMLS ID:C0403464 | End stage renal failure on dialysis (disorder) | SNOMEDCT ID:236435004 +BMGC_DS06403,BMG_DS020205,MONDO:0041295 | acute papillary necrosis | UMLS ID:C0403468 +BMGC_DS06404,BMG_DS020247,Acute scleroderma renal crisis | UMLS ID:C0403527 | SNOMEDCT ID:236503001 | Acute scleroderma renal crisis (disorder) +BMGC_DS06405,BMG_DS020249,OMIM ID:233450 | UMLS ID:C0403529 | anti-glomerular basement membrane disease | MeSH ID:D019867 | DOID:9808 | Anti-Glomerular Basement Membrane Disease | Goodpasture syndrome | MONDO:0009303 +BMGC_DS06406,BMG_DS020267,MeSH ID:C537228 | MONDO:0009724 | UMLS ID:C0403548 | OMIM ID:256020 | Salcedo syndrome | nail-patella-like renal disease +BMGC_DS06407,BMG_DS020269,"UMLS ID:C0403551 | MeSH ID:C562894 | MONDO:0009913 | Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness | prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness | OMIM ID:264140" +BMGC_DS06408,BMG_DS020271,Senior-Loken syndrome | UMLS ID:C0403553 | SNOMEDCT ID:236531005 | Loken Senior syndrome | Renal dysplasia and retinal aplasia | MONDO:0017842 | Renal dysplasia and retinal aplasia (disorder) +BMGC_DS06409,BMG_DS020272,"MeSH ID:C562897 | Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness | UMLS ID:C0403554 | OMIM ID:267300 | renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss | MONDO:0009968" +BMGC_DS06410,BMG_DS020273,MONDO:0000463 | Ochoa syndrome | SNOMEDCT ID:236533008 | urofacial syndrome | UMLS ID:C0403555 | Ochoa syndrome (disorder) | DOID:0050816 | MeSH ID:C536480 +BMGC_DS06411,BMG_DS020275,glomerulopathy with fibronectin deposits 1 | MeSH ID:C562900 | UMLS ID:C0403557 | Glomerulopathy with Giant Fibrillar Deposits | OMIM ID:137950 | MONDO:0024527 +BMGC_DS06412,BMG_DS020277,SNOMEDCT ID:87235005 | Dialysis disequilibrium | Dialysis disequilibrium syndrome | UMLS ID:C0403559 | Dialysis dysequilibrium syndrome | dialysis disequilibrium syndrome | DDS - dialysis disequilibrium syndrome | DOID:0070564 | Dialysis disequilibrium syndrome (disorder) +BMGC_DS06413,BMG_DS020282,Aplastic bone disease | Adynamic bone disease | Adynamic bone disease (disorder) | UMLS ID:C0403566 | SNOMEDCT ID:236552002 +BMGC_DS06414,BMG_DS020307,DOID:1426 | MONDO:0001926 | ureteral disease | Disorder of ureter (disorder) | SNOMEDCT ID:128073008 | ureteral disorder | UMLS ID:C0403608 | Disorder of ureter +BMGC_DS06415,BMG_DS020323,MONDO:0041154 | UMLS ID:C0403653 | disorder of neck of urinary bladder +BMGC_DS06416,BMG_DS020324,Obstruction of urinary bladder outflow (disorder) | BOO - bladder outflow obstruction | Obstruction of urinary bladder outflow | SNOMEDCT ID:236645006 | Bladder outflow obstruction | UMLS ID:C0403654 +BMGC_DS06417,BMG_DS020346,SNOMEDCT ID:267441009 | Uric acid urolithiasis (disorder) | DOID:580 | UMLS ID:C0403719 | Uric acid urolithiasis | uric acid nephrolithiasis | OMIM ID:MTHU037371 +BMGC_DS06418,BMG_DS020347,"X-linked recessive nephrolithiasis with renal failure (disorder) | OMIM ID:310468 | X-linked recessive nephrolithiasis with renal failure | MONDO:0010687 | nephrolithiasis, X-linked recessive, with renal failure | SNOMEDCT ID:236713006 | UMLS ID:C0403720" +BMGC_DS06419,BMG_DS020353,Perforation of uterus caused by intrauterine contraceptive device (disorder) | UMLS ID:C0403745 | IUD (intrauterine contraceptive device) perforation of uterus | Uterine perforation by intrauterine contraceptive device | Perforation of uterus caused by intrauterine contraceptive device | SNOMEDCT ID:236738001 | IUCD (intrauterine contraceptive device) perforation of uterus +BMGC_DS06420,BMG_DS020385,OMIM ID:258150 | spermatogenic failure 1 | UMLS ID:C0403810 | MeSH ID:C562902 | MONDO:0009776 | Oligosynaptic Infertility +BMGC_DS06421,BMG_DS020386,UMLS ID:C0403811 | Congenital impairment of spermatozoa motility | SNOMEDCT ID:236805000 | Congenital impairment of sperm motility | Congenital impairment of spermatozoa motility (disorder) +BMGC_DS06422,BMG_DS020387,"Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa | MONDO:0009461 | DOID:0070183 | UMLS ID:C0403812 | OMIM ID:243060 | spermatogenic failure 5 | MeSH ID:C562903" +BMGC_DS06423,BMG_DS020388,MONDO:0010178 | UMLS ID:C0403814 | OMIM ID:277180 | congenital bilateral aplasia of vas deferens from CFTR mutation +BMGC_DS06424,BMG_DS020395,UMLS ID:C0403823 | Asthenozoospermia | OMIM ID:MTHU062248 | MeSH ID:D053627 +BMGC_DS06425,BMG_DS020396,Teratozoospermia | OMIM ID:MTHU064721 | DOID:0070167 | MeSH ID:D000072660 | spermatogenic failure 6 | UMLS ID:C0403824 | Teratozoospermia (disorder) | SNOMEDCT ID:236817003 +BMGC_DS06426,BMG_DS020397,UMLS ID:C0403825 | spermatogenic failure 6 | MONDO:0007060 | OMIM ID:102530 +BMGC_DS06427,BMG_DS020698,Pubertal breast hypertrophy | Diffuse hypertrophy of breast | familial juvenile hypertrophy of the breast | Adolescent macromastia | OMIM ID:113670 | UMLS ID:C0405471 | Pubertal breast hypertrophy (disorder) | Juvenile mammary hypertrophy | SNOMEDCT ID:198113009 | MONDO:0007237 +BMGC_DS06428,BMG_DS020710,Corticoadrenal insufficiency | Adrenocortical hypofunction | Hypoadrenocorticism | DOID:10493 | Adrenal cortical hypofunction | adrenocortical insufficiency | Adrenal insufficiency | Adrenal cortical hypofunction (disorder) | SNOMEDCT ID:386584007 | SNOMEDCT ID:68588005 | adrenal cortical hypofunction | Primary hypoadrenalism | UMLS ID:C0405580 | MONDO:0000004 +BMGC_DS06429,BMG_DS020803,Cutaneous involvement in listeriosis (disorder) | ICD10 ID:A32.0 | Cutaneous involvement in listeriosis | Cutaneous listeriosis | ICD11 ID:1C1A.0 | SNOMEDCT ID:402128003 | UMLS ID:C0406143 | Cutaneous listeriosis (disorder) | Cutaneous involvement by listeriosis | SNOMEDCT ID:238420008 +BMGC_DS06430,BMG_DS020819,actinic prurigo | Actinic prurigo | OMIM ID:174770 | Familial actinic prurigo | UMLS ID:C0406217 | Actinic prurigo (disorder) | SNOMEDCT ID:201015007 | Hydroa vacciniforme | Bazin's hydroa vacciniforme | Hutchinson's summer prurigo | Hydroa estivale (disorder) | SNOMEDCT ID:27687007 | Familial polymorphous light eruption of American Indians | MONDO:0008273 | Summer prurigo of Hutchinson | Hydroa aestivale | Hereditary polymorphous light eruption of American Indians | Hydroa estivale +BMGC_DS06431,BMG_DS020869,Chronic small plaque psoriasis | UMLS ID:C0406317 | SNOMEDCT ID:402308005 | Chronic small plaque psoriasis (disorder) +BMGC_DS06432,BMG_DS020878,UMLS ID:C0406326 | Scalp psoriasis | Psoriasis of scalp | Psoriasis of scalp (disorder) | SNOMEDCT ID:238608008 +BMGC_DS06433,BMG_DS020924,Erosive oral lichen planus (disorder) | Erosive oral lichen planus | SNOMEDCT ID:238662007 | UMLS ID:C0406378 +BMGC_DS06434,BMG_DS020967,UMLS ID:C0406443 | OMIM ID:161050 | nonsyndromic congenital nail disorder 1 | MONDO:0008060 +BMGC_DS06435,BMG_DS020985,loose anagen syndrome | Loose Anagen Hair Syndrome | loose anagen hair syndrome | MONDO:0010908 | DOID:0111702 | OMIM ID:600628 | UMLS ID:C0406468 | MeSH ID:D058247 +BMGC_DS06436,BMG_DS021001,MeSH ID:D012393 | UMLS ID:C0406486 | Ocular Rosacea | Rosacea +BMGC_DS06437,BMG_DS021013,SNOMEDCT ID:238764001 | Hereditary benign telangiectasia | MONDO:0008534 | UMLS ID:C0406502 | OMIM ID:187260 | generalized essential telangiectasia | Hereditary benign telangiectasia (disorder) +BMGC_DS06438,BMG_DS021034,Neuropathic diabetic ulcer - foot | SNOMEDCT ID:201251005 | Neuropathic ulcer of foot due to diabetes mellitus | UMLS ID:C0406526 | Neuropathic ulcer of foot due to diabetes mellitus (disorder) +BMGC_DS06439,BMG_DS021044,Morbilliform Drug Reaction | Drug Eruptions | UMLS ID:C0406537 | MeSH ID:D003875 +BMGC_DS06440,BMG_DS021059,MONDO:0008260 | UMLS ID:C0406557 | DOID:0060472 | Kindler epidermolysis bullosa | Poikiloderma of Kindler | SNOMEDCT ID:238836000 | Kindler syndrome | OMIM ID:173650 | Kindler epidermolysis bullosa (disorder) | Kindler's syndrome | Congenital bullous poikiloderma | MeSH ID:C536321 +BMGC_DS06441,BMG_DS021061,MONDO:0008325 | OMIM ID:177350 | Pseudoatrophoderma colli | MeSH ID:C562909 | UMLS ID:C0406561 | Pseudoatrophoderma Colli +BMGC_DS06442,BMG_DS021074,Lethal tight skin contracture syndrome | MONDO:0031213 | UMLS ID:C0406585 | Infantile restrictive dermopathy | Lethal tight skin contracture syndrome (disorder) | restrictive dermopathy | DOID:0060762 | SNOMEDCT ID:400128006 +BMGC_DS06443,BMG_DS021075,MONDO:0009910 | OMIM ID:264090 | Neonatal pseudo-hydrocephalic progeroid syndrome (disorder) | SNOMEDCT ID:238874008 | Wiedemann-Rautenstrauch syndrome | Neonatal pseudo-hydrocephalic progeroid syndrome | MeSH ID:C536423 | UMLS ID:C0406586 +BMGC_DS06444,BMG_DS021076,MONDO:0010208 | Wrinkly skin syndrome | Wrinkly skin syndrome (disorder) | WSS - Wrinkly skin syndrome | wrinkly skin syndrome | SNOMEDCT ID:238875009 | OMIM ID:278250 | UMLS ID:C0406587 | DOID:0112171 | MeSH ID:C536750 +BMGC_DS06445,BMG_DS021091,MONDO:0006593 | pelvic lipomatosis | UMLS ID:C0406608 | DOID:3927 +BMGC_DS06446,BMG_DS021093,OMIM ID:613001 | MONDO:0013074 | UMLS ID:C0406612 | encephalocraniocutaneous lipomatosis +BMGC_DS06447,BMG_DS021114,Erythema multiforme-like lupus erythematosus | UMLS ID:C0406637 | MONDO:0041186 | SNOMEDCT ID:403491004 | Erythema multiforme-like lupus erythematosus (disorder) | Rowell syndrome +BMGC_DS06448,BMG_DS021145,Bullous pyoderma | Bullous pyoderma gangrenosum (disorder) | UMLS ID:C0406687 | Bullous pyoderma gangrenosum | MONDO:0035237 | bullous pyoderma gangrenosum | SNOMEDCT ID:238985006 +BMGC_DS06449,BMG_DS021156,MONDO:0016619 | autosomal recessive hypohidrotic ectodermal dysplasia | UMLS ID:C0406702 +BMGC_DS06450,BMG_DS021157,"DOID:0060784;DOID:0060782;DOID:0060783 | UMLS ID:C0406704 | EEC syndrome | MeSH ID:C536189 | MONDO:0010004 | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 | Rudiger syndrome 1 | OMIM ID:268650 | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3" +BMGC_DS06451,BMG_DS021158,MeSH ID:C537659 | MONDO:0007507 | Basan syndrome (disorder) | SNOMEDCT ID:239011004 | absence of fingerprints-congenital milia syndrome | UMLS ID:C0406707 | Basan syndrome | OMIM ID:129200 | BASAN syndrome | DOID:0080725 +BMGC_DS06452,BMG_DS021159,"MeSH ID:C535847 | OMIM ID:106260 | Hay-Wells syndrome of ectodermal dysplasia (disorder) | Ankyloblepharon-ectodermal dysplasia-clefting syndrome | Ankyloblepharon, ectodermal defects, cleft lip and palate | AEC syndrome | MONDO:0007124 | Hay Wells syndrome of ectodermal dysplasia | UMLS ID:C0406709 | Hay-Wells syndrome of ectodermal dysplasia | SNOMEDCT ID:55821006 | AEC - Ankyloblepharon, ectodermal defects, cleft lip and palate | Hay-Wells syndrome | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" +BMGC_DS06453,BMG_DS021161,UMLS ID:C0406715 | SNOMEDCT ID:239020008 | ectodermal dysplasia 8 | Fried tooth and nail syndrome | DOID:0111661 | Fried's tooth and nail syndrome | Fried's tooth and nail syndrome (disorder) +BMGC_DS06454,BMG_DS021162,wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome | OMIM ID:278200 | MONDO:0010207 | UMLS ID:C0406718 +BMGC_DS06455,BMG_DS021164,"OMIM ID:230740 | MONDO:0009263 | MeSH ID:C535642 | GAPO syndrome | Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy | UMLS ID:C0406723" +BMGC_DS06456,BMG_DS021165,Trichodental syndrome (disorder) | SNOMEDCT ID:277810000 | MeSH ID:C536551 | MONDO:0011083 | UMLS ID:C0406724 | Trichodental syndrome | OMIM ID:601453 | trichodental syndrome +BMGC_DS06457,BMG_DS021166,MeSH ID:C557817 | UMLS ID:C0406726 | Orofaciodigital syndrome 3 | orofaciodigital syndrome III | DOID:0060373 | MONDO:0009793 | OMIM ID:258850 +BMGC_DS06458,BMG_DS021167,OMIM ID:258860 | DOID:0060374 | orofaciodigital syndrome IV | MeSH ID:C537133 | UMLS ID:C0406727 | MONDO:0009794 | Orofaciodigital syndrome 4 +BMGC_DS06459,BMG_DS021170,CHAND syndrome | UMLS ID:C0406733 | MeSH ID:C538074 | Curly hair-ankyloblepharon-nail dysplasia syndrome | OMIM ID:214350 | MONDO:0008959 +BMGC_DS06460,BMG_DS021172,Witkop-Brearley-Gentry syndrome | OMIM ID:189500 | MONDO:0008582 | DOID:6678 | UMLS ID:C0406735 | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | tooth and nail syndrome | Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) | SNOMEDCT ID:400036004 +BMGC_DS06461,BMG_DS021176,DOID:0111668 | OMIM ID:226750 | Kohlschutter Tonz syndrome | Kohlschutter-Tonz syndrome | MONDO:0009185 | amelocerebrohypohidrotic syndrome | MeSH ID:C537213 | UMLS ID:C0406740 +BMGC_DS06462,BMG_DS021183,Winter erythrokeratolysis | Keratolytic winter erythema | Oudtshoorn disease | UMLS ID:C0406756 | MONDO:0007854 | MeSH ID:C536155 | Keratolytic winter erythema (disorder) | Erythrokeratolysis hiemalis | keratolytic winter erythema | OMIM ID:148370 | SNOMEDCT ID:239064000 +BMGC_DS06463,BMG_DS021184,MONDO:0019272 | UMLS ID:C0406757 | hereditary palmoplantar keratoderma +BMGC_DS06464,BMG_DS021185,MONDO:0031421 | Congenital palmoplantar and perioral keratoderma of Olmsted (disorder) | SNOMEDCT ID:239072003 | Congenital palmoplantar and perioral keratoderma of Olmsted | Olmsted syndrome | UMLS ID:C0406761 | Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques +BMGC_DS06465,BMG_DS021189,UMLS ID:C0406767 | OMIM ID:181600 | MONDO:0008416 | palmoplantar keratoderma-sclerodactyly syndrome +BMGC_DS06466,BMG_DS021193,DOID:0060257 | dyschromatosis symmetrica hereditaria | MONDO:0007483 | OMIM ID:127400 | UMLS ID:C0406775 +BMGC_DS06467,BMG_DS021195,OMIM ID:125595 | DOID:0111342 | UMLS ID:C0406778 | dermatopathia pigmentosa reticularis | MONDO:0007445 +BMGC_DS06468,BMG_DS021210,syringocystadenoma papilliferum | UMLS ID:C0406803 | MONDO:0019392 | DOID:5445 +BMGC_DS06469,BMG_DS021213,UMLS ID:C0406810 | MeSH ID:D056733 | DOID:0050471 | MONDO:0015285 | Carney complex | Carney Complex +BMGC_DS06470,BMG_DS021214,UMLS ID:C0406811 | Reticulate acropigmentation of Kitamura (disorder) | Reticulate acropigmentation of Kitamura | DOID:0060258;DOID:0060256 | SNOMEDCT ID:239133004 | Kitamura's reticulate acropigmentation | Dowling-Degos disease | reticulate acropigmentation of Kitamura | MONDO:0014234 | OMIM ID:615537 +BMGC_DS06471,BMG_DS021215,UMLS ID:C0406817 | OMIM ID:115250 | MONDO:0007271 | familial cutaneous collagenoma +BMGC_DS06472,BMG_DS021216,MONDO:0016986 | congenital smooth muscle hamartoma | UMLS ID:C0406819 +BMGC_DS06473,BMG_DS021275,UMLS ID:C0409495 | Protrusio acetabuli | OMIM ID:177050 | MONDO:0008320 +BMGC_DS06474,BMG_DS021401,juvenile chronic polyarthritis | MONDO:0024281 | juvenile rheumatoid arthritis | DOID:676 | UMLS ID:C0409667 +BMGC_DS06475,BMG_DS021407,"ICD11 ID:FA9Z | MONDO:0020655 | Juvenile ankylosing spondylitis (disorder) | AS - Juvenile ankylosing spondylitis | DOID:0040092 | Inflammation of spine, unspecified | juvenile ankylosing spondylitis | ICD10 ID:M08.1 | SNOMEDCT ID:239805001 | UMLS ID:C0409675 | Juvenile ankylosing spondylitis | SNOMEDCT ID:201802002" +BMGC_DS06476,BMG_DS021499,"UMLS ID:C0409818 | Cryopyrin-Associated Periodic Syndromes | OMIM ID:607115 | MONDO:0011776 | Chronic Infantile Neurological, Cutaneous, and Articular Syndrome | MeSH ID:D056587 | CINCA syndrome" +BMGC_DS06477,BMG_DS021602,"UMLS ID:C0409959 | Osteoarthritis, Knee | MeSH ID:D020370 | osteoarthritis, knee | MONDO:0005416" +BMGC_DS06478,BMG_DS021614,lupus erythematosus | MONDO:0004670 | DOID:8857 | UMLS ID:C0409974 +BMGC_DS06479,BMG_DS021639,"pseudosarcomatous fibromatosis | (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) | Granuloma -foreign body | UMLS ID:C0410005 | ICD10 ID:M72.4 | Muscle/ligament disorder NOS | nodular fasciitis | Contraction - ligament | SNOMEDCT ID:268106003 | SNOMEDCT ID:703616008 | Infiltrative fasciitis | SNOMEDCT ID:156729009 | Hypotonia, unspecified | Nodular fasciitis (morphologic abnormality) | Rhabdomyolysis | Nontraumatic muscle rupture | (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) | Pseudosarcomatous fibromatosis | Pseudosarcomatous fasciitis | Non-traumatic muscle tear | Proliferative fasciitis | DOID:7327 | Talc granuloma | Non-traumatic muscle rupture | Muscle contracture | ICD11 ID:FB51.2 | Nodular fasciitis (disorder) | Fasciitis - nodular | SNOMEDCT ID:400138001 | SNOMEDCT ID:35548007 | Fasciitis and fibromatosis | MONDO:0004187 | Nodular fasciitis | Foreign body granuloma" +BMGC_DS06480,BMG_DS021661,UMLS ID:C0410060 | OMIM ID:190410 | MONDO:0008600 | trigger thumb +BMGC_DS06481,BMG_DS021665,"Dupuytren's disease of finger(s), with contracture | Dupuytren disease of finger, with contracture | SNOMEDCT ID:203051006 | UMLS ID:C0410065 | Dupuytren's disease of finger, with contracture (disorder) | Dupuytren's disease of finger, with contracture" +BMGC_DS06482,BMG_DS021732,SNOMEDCT ID:240056002 | Severe autosomal recessive muscular dystrophy of childhood - North African type | Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) | OMIM ID:253700 | UMLS ID:C0410173 | autosomal recessive limb-girdle muscular dystrophy type 2C | MONDO:0009677 +BMGC_DS06483,BMG_DS021733,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | DOID:0050560 | OMIM ID:253800 | UMLS ID:C0410174 | MONDO:0009678 | Walker-Warburg Syndrome | Fukuyama Type Congenital Muscular Dystrophy | MeSH ID:D058494 | Walker-Warburg syndrome" +BMGC_DS06484,BMG_DS021738,MeSH ID:C537521 | UMLS ID:C0410179 | Ullrich congenital muscular dystrophy 1 | OMIM ID:254090 | MONDO:0009681 | Ullrich congenital muscular dystrophy 1A +BMGC_DS06485,BMG_DS021739,Eichsfeld type congenital muscular dystrophy | SNOMEDCT ID:240063002 | rigid spine muscular dystrophy 1 | UMLS ID:C0410180 | OMIM ID:602771 | Rigid spine syndrome | Eichsfeld type congenital muscular dystrophy (disorder) | MONDO:0011271 +BMGC_DS06486,BMG_DS021746,"Emery-Dreifuss muscular dystrophy | MeSH ID:D020389 | DOID:11726 | MONDO:0016830 | Muscular Dystrophy, Emery-Dreifuss | UMLS ID:C0410189" +BMGC_DS06487,BMG_DS021747,"Emery-Dreifuss muscular dystrophy 2, autosomal dominant | OMIM ID:159001 | MONDO:0021569 | UMLS ID:C0410190 | OMIM ID:181350" +BMGC_DS06488,BMG_DS021749,"OMIM ID:600416 | MONDO:0010884 | UMLS ID:C0410192 | Muscular Dystrophy, Scapulohumeral | muscular dystrophy, scapulohumeral | MeSH ID:C562932" +BMGC_DS06489,BMG_DS021759,UMLS ID:C0410203 | X-linked myotubular myopathy | centronuclear myopathy X-linked | MONDO:0010683 | DOID:0111225 | OMIM ID:310400 +BMGC_DS06490,BMG_DS021760,"DOID:0111220 | MONDO:0009709 | Myopathy, Centronuclear, Autosomal Recessive | UMLS ID:C0410204 | MeSH ID:C562934 | OMIM ID:255200 | centronuclear myopathy 2 | myopathy, centronuclear, 2" +BMGC_DS06491,BMG_DS021763,"Myopathies, Structural, Congenital | Tubular Aggregate Myopathy | UMLS ID:C0410207 | tubular aggregate myopathy | MONDO:0008051 | MeSH ID:D020914" +BMGC_DS06492,BMG_DS021768,MeSH ID:C562935 | UMLS ID:C0410214 | Myopathy with Abnormal Lipid Metabolism +BMGC_DS06493,BMG_DS021777,MONDO:0023595 | MeSH ID:D009223 | congenital myotonic dystrophy | UMLS ID:C0410226 | Myotonic Dystrophy | Congenital Myotonic Dystrophy +BMGC_DS06494,BMG_DS021879,"Osteomyelitis or osteitis, unspecified | Chronic multifocal osteomyelitis | MONDO:0009813 | CRMO - Chronic multifocal osteomyelitis | MeSH ID:C535456 | chronic recurrent multifocal osteomyelitis | SNOMEDCT ID:240151005 | SNOMEDCT ID:203203009 | DOID:0060645 | ICD11 ID:FB84.Z | Chronic multifocal osteomyelitis (disorder) | ICD10 ID:M86.3 | UMLS ID:C0410422" +BMGC_DS06495,BMG_DS021943,SNOMEDCT ID:105986008 | UMLS ID:C0410528 | Osteochondrodysplasia | Osteodysplasia | MONDO:0018230 | Skeletal dysplasia | OMIM ID:MTHU042509 | Congenital skeletal dysplasia | Congenital skeletal dysplasia (disorder) | skeletal dysplasia +BMGC_DS06496,BMG_DS021944,OMIM ID:146000 | SNOMEDCT ID:205468002 | MONDO:0007793 | Hypochondroplasia (disorder) | Hypochondrodysplasia | UMLS ID:C0410529 | DOID:0080041 | hypochondroplasia | Hypochondroplasia +BMGC_DS06497,BMG_DS021945,SNOMEDCT ID:205481009 | Metachondromatosis | MeSH ID:C562938 | DOID:0111512 | Metachondromatosis (disorder) | UMLS ID:C0410530 | OMIM ID:156250 | MONDO:0007979 | metachondromatosis +BMGC_DS06498,BMG_DS021949,OMIM ID:177170 | pseudoachondroplasia | MONDO:0008322 | UMLS ID:C0410538 +BMGC_DS06499,BMG_DS021950,MONDO:0009031 | CDD - Craniodiaphyseal dysplasia | Craniodiaphyseal dysplasia | OMIM ID:218300 | craniodiaphyseal dysplasia | SNOMEDCT ID:205506004 | UMLS ID:C0410539 | Craniodiaphyseal dysplasia (disorder) +BMGC_DS06500,BMG_DS021974,Synovial Hypertrophy | Synovitis | UMLS ID:C0410574 | MeSH ID:D013585 +BMGC_DS06501,BMG_DS021994,cervical disk degenerative disorder | DOID:90 | degenerative disc disease | UMLS ID:C0410606 | MONDO:0044343 +BMGC_DS06502,BMG_DS022238,"MeSH ID:D012640 | UMLS ID:C0422850 | Seizures | Seizures, Somatosensory" +BMGC_DS06503,BMG_DS022244,Amblyopia | MeSH ID:D000550 | Lazy Eye | UMLS ID:C0422955 +BMGC_DS06504,BMG_DS022254,MeSH ID:D020432 | Superior Oblique Myokymia | UMLS ID:C0423092 | Trochlear Nerve Diseases | DOID:13864 | trochlear nerve disease +BMGC_DS06505,BMG_DS022255,MONDO:0008537 | UMLS ID:C0423113 | OMIM ID:187350 | telecanthus +BMGC_DS06506,BMG_DS022261,MONDO:0001210 | enophthalmos | UMLS ID:C0423224 +BMGC_DS06507,BMG_DS022264,OMIM ID:142500 | heterochromia iridis | UMLS ID:C0423318 | MONDO:0007722 +BMGC_DS06508,BMG_DS022271,UMLS ID:C0423401 | MONDO:0008373 | OMIM ID:180000 | retinal arterial tortuosity +BMGC_DS06509,BMG_DS022274,"UMLS ID:C0423682 | Low Back Pain, Mechanical | Low Back Pain | MeSH ID:D017116" +BMGC_DS06510,BMG_DS022280,"UMLS ID:C0423711 | MeSH ID:D009437 | Neuralgia, Perineal | Neuralgia" +BMGC_DS06511,BMG_DS022281,"Neuralgia, Iliohypogastric Nerve | MeSH ID:D009437 | Neuralgia | UMLS ID:C0423712" +BMGC_DS06512,BMG_DS022284,Pityriasis streptogenes | Seborrhoeic eczema of scalp | MONDO:0024343 | Seborrheic eczema of scalp | pityriasis simplex | Pityriasis capitis | Seborrhoeic dermatitis of scalp | Scurfiness of scalp (disorder) | Scurfiness of scalp (finding) | UMLS ID:C0423775 | Scurfiness of scalp | Seborrhoea capitis | Seborrhoea sicca | Seborrhea capitis | Dandruff | Seborrheic dermatitis of scalp | Seborrhea sicca | Pityriasis simplex | Pityriasis sicca | SNOMEDCT ID:247448009 | Scurf | SNOMEDCT ID:48596006 +BMGC_DS06513,BMG_DS022307,Quadriplegia | MeSH ID:D011782 | MONDO:0016215 | Spastic Quadriplegia | spastic quadriplegic cerebral palsy | UMLS ID:C0426970 +BMGC_DS06514,BMG_DS022309,Facial Paresis | MeSH ID:D005158 | UMLS ID:C0427055 | Facial Paralysis +BMGC_DS06515,BMG_DS022321,aortic valve calcification | Calcified aortic valve | Aortic valve calcification (disorder) | OMIM ID:MTHU014585 | UMLS ID:C0428791 | MONDO:0005463 | SNOMEDCT ID:250978003 | Aortic valve calcification +BMGC_DS06516,BMG_DS022328,Dilatation of pulmonary artery (disorder) | SNOMEDCT ID:251047005 | UMLS ID:C0428851 | Dilatation of pulmonary artery +BMGC_DS06517,BMG_DS022329,MONDO:0000469 | UMLS ID:C0428908 | sinoatrial node disorder +BMGC_DS06518,BMG_DS022331,UMLS ID:C0428974 | Supraventricular arrhythmia | Supraventricular arrhythmia (disorder) | SNOMEDCT ID:72654001 +BMGC_DS06519,BMG_DS022348,UMLS ID:C0431108 | MONDO:0016703 | anaplastic oligoastrocytoma +BMGC_DS06520,BMG_DS022349,choroid plexus carcinoma | MONDO:0016718 | UMLS ID:C0431109 | DOID:5648 +BMGC_DS06521,BMG_DS022352,choroid plexus meningioma | MONDO:0003053 | UMLS ID:C0431118 | DOID:4584 +BMGC_DS06522,BMG_DS022353,lymphoplasmacyte-rich meningioma | UMLS ID:C0431119 | DOID:4591 | MONDO:0003056 +BMGC_DS06523,BMG_DS022354,UMLS ID:C0431121 | MONDO:0002918 | DOID:4210 | clear cell meningioma +BMGC_DS06524,BMG_DS022355,cellular schwannoma | DOID:3196 | MONDO:0002548 | UMLS ID:C0431124 +BMGC_DS06525,BMG_DS022356,DOID:3847 | UMLS ID:C0431128 | MONDO:0002788 | papillary craniopharyngioma +BMGC_DS06526,BMG_DS022357,UMLS ID:C0431129 | DOID:3846 | MONDO:0002787 | adamantinous craniopharyngioma +BMGC_DS06527,BMG_DS022367,UMLS ID:C0431349 | MONDO:0035450 | aprosencephaly +BMGC_DS06528,BMG_DS022371,lobar holoprosencephaly | MONDO:0019756 | UMLS ID:C0431362 +BMGC_DS06529,BMG_DS022372,MONDO:0019757 | alobar holoprosencephaly | UMLS ID:C0431363 +BMGC_DS06530,BMG_DS022375,UMLS ID:C0431375 | Classical Lissencephaly | chromosome 17p13.1 deletion syndrome | MeSH ID:D054221 | MONDO:0015146 | Classical Lissencephalies and Subcortical Band Heterotopias | classic lissencephaly | DOID:0060402 +BMGC_DS06531,BMG_DS022377,cerebral cortical dysplasia | MONDO:0017094 | UMLS ID:C0431380 +BMGC_DS06532,BMG_DS022379,colpocephaly | UMLS ID:C0431384 | MONDO:0022236 +BMGC_DS06533,BMG_DS022380,hemimegalencephaly | OMIM ID:MTHU037012 | Hemimegalencephaly | Hemimegalencephaly (disorder) | SNOMEDCT ID:253170008 | MeSH ID:D065705 | UMLS ID:C0431391 | MONDO:0020492 +BMGC_DS06534,BMG_DS022381,SNOMEDCT ID:156895002 | MONDO:0018772 | UMLS ID:C0431399 | Joubert syndrome | SNOMEDCT ID:253175003 | Familial aplasia of the vermis | Familial aplasia of the vermis (disorder) | SNOMEDCT ID:204053001 +BMGC_DS06535,BMG_DS022383,"MONDO:0008795 | aniridia-cerebellar ataxia-intellectual disability syndrome | OMIM ID:206700 | Gillespie syndrome (disorder) | SNOMEDCT ID:253176002 | DOID:0111578 | Aniridia, cerebellar ataxia, intellectual disability syndrome | MeSH ID:C536370 | Gillespie syndrome | UMLS ID:C0431401" +BMGC_DS06536,BMG_DS022384,OMIM ID:125520 | Asymmetric crying face association | UMLS ID:C0431406 | SNOMEDCT ID:51409009 | Congenital unilateral hypoplasia of depressor anguli oris | MONDO:0007443 | Asymmetric crying face association (disorder) | Cardiofacial syndrome | Asymmetrical crying face syndrome | congenital unilateral hypoplasia of depressor anguli oris | Asymmetric crying facies +BMGC_DS06537,BMG_DS022386,Vein of Galen aneurysm | MeSH ID:C536535 | MONDO:0015196 | vein of Galen aneurysm | UMLS ID:C0431420 +BMGC_DS06538,BMG_DS022395,Mayer-Rokitansky-Kuster syndrome | MONDO:0017771 | Congenital absence of uterus and vagina | SNOMEDCT ID:8793008 | Rokitansky sequence (disorder) | Rokitansky sequence | Mayer-Rokitansky-Kuster-Hauser syndrome | UMLS ID:C0431648 +BMGC_DS06539,BMG_DS022397,"renal hypoplasia, bilateral | UMLS ID:C0431692 | MONDO:0019980" +BMGC_DS06540,BMG_DS022398,"Maturity-onset diabetes of the young, type 5 (disorder) | MODY5 - maturity-onset diabetes of the young type 5 | HNF1B monogenic diabetes mellitus | MONDO:0007669 | Renal cysts and diabetes syndrome | Maturity-onset diabetes of the young, type 5 | OMIM ID:137920 | HNF1B (HNF1 homeobox B) monogenic diabetes mellitus | HNF1B-MODY - HNF1 homeobox B maturity-onset diabetes of the young type 5 | renal cysts and diabetes syndrome | SNOMEDCT ID:609572000 | MeSH ID:C535520 | SNOMEDCT ID:446641003 | Renal cysts and diabetes syndrome (disorder) | UMLS ID:C0431693" +BMGC_DS06541,BMG_DS022400,"UMLS ID:C0431697 | renal dysplasia, unilateral | MONDO:0019644" +BMGC_DS06542,BMG_DS022401,"renal dysplasia, bilateral | MONDO:0019645 | UMLS ID:C0431698" +BMGC_DS06543,BMG_DS022407,SNOMEDCT ID:253883006 | Multiple renal cysts | Multiple renal cysts (disorder) | OMIM ID:MTHU015022 | UMLS ID:C0431718 +BMGC_DS06544,BMG_DS022418,"thumbs, congenital Clasped | OMIM ID:314100 | UMLS ID:C0431886 | MONDO:0010746" +BMGC_DS06545,BMG_DS022420,postaxial polydactyly of fingers | MONDO:0017426 | UMLS ID:C0431904 +BMGC_DS06546,BMG_DS022424,split foot | MONDO:0017450 | UMLS ID:C0432028 +BMGC_DS06547,BMG_DS022429,UMLS ID:C0432090 | cleft hard palate | MONDO:0015092 +BMGC_DS06548,BMG_DS022430,UMLS ID:C0432098 | cleft soft palate | OMIM ID:119570 | MONDO:0007338 +BMGC_DS06549,BMG_DS022434,MONDO:0008603 | trigonocephaly 1 | OMIM ID:190440 | UMLS ID:C0432122 +BMGC_DS06550,BMG_DS022435,Kleeblattschaedel syndrome | UMLS ID:C0432126 | OMIM ID:148800 | MeSH ID:C536884 | MONDO:0007861 | isolated cloverleaf skull syndrome +BMGC_DS06551,BMG_DS022436,"OMIM ID:214290 | cervical vertebrae, agenesis of | MONDO:0008957 | UMLS ID:C0432160" +BMGC_DS06552,BMG_DS022443,Schneckenbecken dysplasia | SNOMEDCT ID:254049009 | Schneckenbecken dysplasia (disorder) | schneckenbecken dysplasia | UMLS ID:C0432194 | DOID:0050775 | OMIM ID:269250 | MONDO:0010013 | MeSH ID:C536637 +BMGC_DS06553,BMG_DS022444,short rib dysplasia | MONDO:0019691 | UMLS ID:C0432195 +BMGC_DS06554,BMG_DS022445,"UMLS ID:C0432197 | Short rib-polydactyly syndrome, Verma-Naumoff type | MeSH ID:C537602" +BMGC_DS06555,BMG_DS022446,"MeSH ID:C537599 | MONDO:0010024 | Beemer-Langer syndrome | OMIM ID:269860 | UMLS ID:C0432198 | DOID:9249 | Short rib-polydactyly syndrome, Beemer type" +BMGC_DS06556,BMG_DS022447,UMLS ID:C0432201 | DOID:0050680 | MONDO:0007208 | SNOMEDCT ID:254054000 | Boomerang dysplasia | OMIM ID:112310 | MeSH ID:C536573 | Boomerang dysplasia (disorder) +BMGC_DS06557,BMG_DS022448,SNOMEDCT ID:254058002 | MONDO:0009914 | MeSH ID:C535826 | Pseudodiastrophic dysplasia (disorder) | Pseudodiastrophic dysplasia | UMLS ID:C0432206 | pseudodiastrophic dysplasia | OMIM ID:264180 +BMGC_DS06558,BMG_DS022450,"Dyssegmental dysplasia, Rolland-Desbuquois type | MeSH ID:C537999 | MONDO:0009139 | UMLS ID:C0432209 | dyssegmental dysplasia, Rolland-Desbuquois type | OMIM ID:224400" +BMGC_DS06559,BMG_DS022451,SNOMEDCT ID:254062008 | Spondyloepimetaphyseal dysplasia | MONDO:0100510 | spondyloepimetaphyseal dysplasia | Spondyloepimetaphyseal disorder (disorder) | Spondyloepimetaphyseal disorder | UMLS ID:C0432211 +BMGC_DS06560,BMG_DS022452,"MONDO:0010076 | Spondyloepimetaphyseal Dysplasia, Irapa Type | UMLS ID:C0432213 | spondyloepimetaphyseal dysplasia, Irapa type | OMIM ID:271650 | MeSH ID:C562958" +BMGC_DS06561,BMG_DS022453,Namaqualand hip dysplasia | SNOMEDCT ID:254064009 | UMLS ID:C0432214 | mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis | MONDO:0011496 | OMIM ID:604864 | Namaqualand hip dysplasia (disorder) +BMGC_DS06562,BMG_DS022454,Progressive pseudorheumatoid dysplasia (disorder) | MONDO:0008827 | MeSH ID:C535387 | Progressive pseudorheumatoid dysplasia | progressive pseudorheumatoid arthropathy of childhood | OMIM ID:208230 | UMLS ID:C0432215 | SNOMEDCT ID:254065005 +BMGC_DS06563,BMG_DS022455,"MeSH ID:C536739 | UMLS ID:C0432217 | DOID:0090060 | Wolcott-Rallison syndrome | Epiphyseal dysplasia, multiple, with early onset diabetes mellitus | Wolcott-Rallison dysplasia (disorder) | SNOMEDCT ID:254066006 | Wolcott-Rallison dysplasia | MONDO:0009192 | OMIM ID:226980" +BMGC_DS06564,BMG_DS022457,Opsismodysplasia (disorder) | MONDO:0009785 | SNOMEDCT ID:254068007 | UMLS ID:C0432219 | MeSH ID:C537122 | OMIM ID:258480 | opsismodysplasia | Opsismodysplasia +BMGC_DS06565,BMG_DS022458,"UMLS ID:C0432221 | MONDO:0008479 | MeSH ID:C535793 | DOID:0112297 | spondylometaphyseal dysplasia corner fracture type | OMIM ID:184255 | Spondylometaphyseal dysplasia, 'corner fracture' type | spondylometaphyseal dysplasia, 'corner fracture' type" +BMGC_DS06566,BMG_DS022459,Spondyloenchondrodysplasia (disorder) | Spondyloenchondrodysplasia | MeSH ID:C535782 | SNOMEDCT ID:254079002 | UMLS ID:C0432222 +BMGC_DS06567,BMG_DS022460,"MONDO:0007322 | UMLS ID:C0432224 | chondrodysplasia punctata, tibial-metacarpal type | OMIM ID:118651" +BMGC_DS06568,BMG_DS022461,"metaphyseal chondrodysplasia, Spahr type | MeSH ID:C537353 | MONDO:0009597 | UMLS ID:C0432225 | OMIM ID:250400 | Metaphyseal chondrodysplasia Spahr type" +BMGC_DS06569,BMG_DS022462,UMLS ID:C0432226 | Metaphyseal anadysplasia (disorder) | SNOMEDCT ID:254085009 | metaphyseal anadysplasia | MeSH ID:C537351 | OMIM ID:309645 | Metaphyseal anadysplasia | MONDO:0015177 +BMGC_DS06570,BMG_DS022463,MONDO:0007232 | autosomal dominant brachyolmia | UMLS ID:C0432227 | OMIM ID:113500 +BMGC_DS06571,BMG_DS022464,MeSH ID:C537098 | MONDO:0015262 | DOID:0050690 | SNOMEDCT ID:254088006 | Brachyolmia (disorder) | brachyolmia | Brachyolmia | UMLS ID:C0432228 +BMGC_DS06572,BMG_DS022466,MONDO:0009588 | OMIM ID:249700 | Langer mesomelic dysplasia | UMLS ID:C0432230 +BMGC_DS06573,BMG_DS022467,"UMLS ID:C0432231 | Mesomelic dysplasia - Nievergelt type | OMIM ID:163400 | Nievergelt's syndrome | MeSH ID:C536120 | MONDO:0008098 | mesomelic dwarfism, Nievergelt type | Nievergelt's syndrome (disorder) | Nievergelt syndrome | SNOMEDCT ID:33979003 | Nievergelt-Erb syndrome" +BMGC_DS06574,BMG_DS022468,trichorhinophalangeal syndrome type I | DOID:14743 | SNOMEDCT ID:239016009 | Trichorhinophalangeal dysplasia type I (disorder) | TRPS I - Trichorhinophalangeal syndrome I | Trichorhinophalangeal dysplasia type I | MONDO:0008596 | OMIM ID:190350 | Trichorhinophalangeal syndrome I | SNOMEDCT ID:254091006 | UMLS ID:C0432233 +BMGC_DS06575,BMG_DS022469,OMIM ID:606045 | cranioectodermal dysplasia 1 | DOID:0080803 | OMIM ID:218330 | CRANIOECTODERMAL DYSPLASIA 1 | UMLS ID:C0432235 | MONDO:0021093 +BMGC_DS06576,BMG_DS022470,UMLS ID:C0432238 | bent bone dysplasia | MONDO:0019698 +BMGC_DS06577,BMG_DS022471,Kyphomelic dysplasia (disorder) | Kyphomelic dysplasia | UMLS ID:C0432239 | MeSH ID:C538128 | MONDO:0008881 | OMIM ID:211350 | SNOMEDCT ID:254096001 | kyphomelic dysplasia +BMGC_DS06578,BMG_DS022472,SNOMEDCT ID:254099008 | DOID:0060462 | UMLS ID:C0432242 | Desbuquois syndrome | MONDO:0015426 | MeSH ID:C535943 | Desbuquois dysplasia | Desbuquois syndrome (disorder) +BMGC_DS06579,BMG_DS022473,MONDO:0019675 | Spondyloepimetaphyseal Dysplasia With Joint Laxity | spondyloepimetaphyseal dysplasia with joint laxity | MeSH ID:C562968 | UMLS ID:C0432243 | DOID:0112197 +BMGC_DS06580,BMG_DS022475,"MeSH ID:C565898 | microcephalic osteodysplastic primordial dwarfism type II | MONDO:0008872 | UMLS ID:C0432246 | DOID:0060609 | OMIM ID:210720 | Microcephalic Osteodysplastic Primordial Dwarfism, Type II" +BMGC_DS06581,BMG_DS022476,Osteoporosis with pseudoglioma (disorder) | Osteoporosis with pseudoglioma | DOID:0060849 | SNOMEDCT ID:254112001 | MONDO:0009820 | UMLS ID:C0432252 | osteoporosis-pseudoglioma syndrome | OMIM ID:259770 +BMGC_DS06582,BMG_DS022477,MONDO:0017195 | SNOMEDCT ID:254113006 | Bruck syndrome (disorder) | UMLS ID:C0432253 | Bruck syndrome +BMGC_DS06583,BMG_DS022478,MeSH ID:C537343 | Singleton Merten syndrome | Singleton-Merten dysplasia | UMLS ID:C0432254 | MONDO:0008429 +BMGC_DS06584,BMG_DS022479,OMIM ID:231070 | Geroderma osteodysplastica | geroderma osteodysplastica | geroderma osteodysplasticum | UMLS ID:C0432255 | Geroderma osteodysplastica (disorder) | GO - Geroderma osteodysplastica | Osteodysplastic geroderma | MeSH ID:C537799 | DOID:0111266 | MONDO:0009271 | SNOMEDCT ID:254116003 +BMGC_DS06585,BMG_DS022483,UMLS ID:C0432261 | Osteopetrosis - intermediate type | SNOMEDCT ID:254121000 | Osteopetrosis - intermediate type (disorder) +BMGC_DS06586,BMG_DS022484,SNOMEDCT ID:254123002 | OMIM ID:MTHU064939 | MeSH ID:C562973 | MONDO:0009138 | Dysosteosclerosis (disorder) | UMLS ID:C0432262 | dysosteosclerosis | Dysosteosclerosis | OMIM ID:224300 +BMGC_DS06587,BMG_DS022486,MeSH ID:C537792 | Axial osteosclerosis | osteomesopyknosis | SNOMEDCT ID:254125009 | Axial osteosclerosis (disorder) | OMIM ID:166450 | MONDO:0008155 | UMLS ID:C0432264 | Osteomesopycnosis +BMGC_DS06588,BMG_DS022487,UMLS ID:C0432267 | DOID:0111868;DOID:2960 | nonphotosensitive trichothiodystrophy 5 | MeSH ID:D054463 | IBIDS Syndrome | photosensitive trichothiodystrophy | Trichothiodystrophy Syndromes +BMGC_DS06589,BMG_DS022488,Osteopathia striata cranial sclerosis | MeSH ID:C536053 | DOID:0060886 | UMLS ID:C0432268 | OMIM ID:300373 | osteopathia striata with cranial sclerosis | MONDO:0010310 +BMGC_DS06590,BMG_DS022489,MONDO:0007892 | DOID:0111507 | Lenz-Majewski hyperostotic dwarfism | UMLS ID:C0432269 | OMIM ID:151050 +BMGC_DS06591,BMG_DS022491,Hyperphosphatasemia tarda | Hyperphosphatasaemia tarda | hyperostosis corticalis generalisata | van Buchem's syndrome | MONDO:0009395 | Hyperostosis corticalis generalisata | SNOMEDCT ID:59763006 | Van Buchem disease | OMIM ID:239100 | Leontiasis ossea generalisata | Hyperphosphatasemia tarda (disorder) | UMLS ID:C0432272 | Hyperphosphatasia tarda +BMGC_DS06592,BMG_DS022492,"SNOMEDCT ID:254131007 | MONDO:0007764 | Worth disease (disorder) | Worth syndrome | OMIM ID:144750 | UMLS ID:C0432273 | autosomal dominant osteosclerosis, Worth type | DOID:0080037 | OMIM ID:607636 | Worth disease | Autosomal dominant osteosclerosis" +BMGC_DS06593,BMG_DS022495,UMLS ID:C0432282 | Trevor's disease | Dysplasia epiphysealis hemimelica (disorder) | MeSH ID:C537997 | MONDO:0007489 | OMIM ID:127800 | Trevor disease | SNOMEDCT ID:205480005 | SNOMEDCT ID:240187003 | dysplasia epiphysealis hemimelica | Dysplasia epiphysealis hemimelica +BMGC_DS06594,BMG_DS022496,OMIM ID:166250 | DOID:0111532 | osteoglophonic dwarfism | UMLS ID:C0432283 | MONDO:0008150 | osteoglophonic dysplasia +BMGC_DS06595,BMG_DS022497,UMLS ID:C0432284 | infantile myofibromatosis | MONDO:0016824 +BMGC_DS06596,BMG_DS022499,UMLS ID:C0432288 | OMIM ID:221800 | MeSH ID:C535375 | dermochondrocorneal dystrophy | MONDO:0009094 | Dermochondrocorneal dystrophy of François +BMGC_DS06597,BMG_DS022500,OMIM ID:277950 | SNOMEDCT ID:254151006 | Winchester syndrome | MONDO:0010201 | UMLS ID:C0432289 | Winchester syndrome (disorder) +BMGC_DS06598,BMG_DS022501,UMLS ID:C0432291 | mandibuloacral dysplasia | Mandibuloacral dysostosis | Mandibuloacral dysostosis (disorder) | Mandibuloacral dysplasia | Familial mandibuloacral dysplasia | SNOMEDCT ID:109419009 | MONDO:0016584 | Craniomandibular dermatodysostosis +BMGC_DS06599,BMG_DS022502,familial expansile osteolysis | DOID:0111542 | MONDO:0008275 | OMIM ID:174810 | UMLS ID:C0432292 +BMGC_DS06600,BMG_DS022504,OMIM ID:146700 | MONDO:0007810 | autosomal dominant ichthyosis vulgaris | UMLS ID:C0432300 +BMGC_DS06601,BMG_DS022506,"UMLS ID:C0432304 | MONDO:0007812 | ichthyosis, lamellar, autosomal dominant | OMIM ID:146750 | MeSH ID:C537263 | Lamellar ichthyosis, autosomal dominant form" +BMGC_DS06602,BMG_DS022507,UMLS ID:C0432306 | OMIM ID:146800 | DOID:0060877 | superficial epidermolytic ichthyosis | bullous congenital ichthyosiform erythroderma | MONDO:0007813 +BMGC_DS06603,BMG_DS022509,"ichthyosis histrix, Lambert type | OMIM ID:146600 | MONDO:0007809 | UMLS ID:C0432311" +BMGC_DS06604,BMG_DS022512,"OMIM ID:131960 | MONDO:0007556 | epidermolysis bullosa simplex with mottled pigmentation | epidermolysis bullosa simplex 2F, with mottled pigmentation | UMLS ID:C0432316 | DOID:0111346" +BMGC_DS06605,BMG_DS022513,"EBS 1 | Epidermolysis bullosa simplex, Ogna type (disorder) | Autosomal dominant epidermolysis bullosa simplex | Epidermolysis bullosa simplex, Ogna type | OMIM ID:131950 | UMLS ID:C0432317 | pidermolysis bullosa simplex 5A, Ogna type | SNOMEDCT ID:60518002 | Autosomal dominant epidermolysis bullosa simplex (disorder) | MeSH ID:C535962 | SNOMEDCT ID:398071000 | MONDO:0007555 | Epidermolysis bullosa simplex of Ogna" +BMGC_DS06606,BMG_DS022515,MONDO:0007552 | UMLS ID:C0432321 | pretibial dystrophic epidermolysis bullosa | OMIM ID:131850 +BMGC_DS06607,BMG_DS022516,OMIM ID:131750 | MONDO:0007549 | UMLS ID:C0432322 | generalized dominant dystrophic epidermolysis bullosa +BMGC_DS06608,BMG_DS022518,Junctional epidermolysis bullosa mitis | Generalized atrophic benign epidermolysis bullosa - GABEB | generalized junctional epidermolysis bullosa non-Herlitz type | Junctional epidermolysis bullosa mitis (disorder) | SNOMEDCT ID:254196004 | Junctional epidermolysis bullosa Disentis type | Generalised atrophic benign epidermolysis bullosa - GABEB | MONDO:0019307 | UMLS ID:C0432326 | Junctional epidermolysis bullosa generalized intermediate | Generalized junctional epidermolysis bullosa non-Herlitz type | Generalised junctional epidermolysis bullosa non-Herlitz type | Junctional epidermolysis bullosa generalised intermediate +BMGC_DS06609,BMG_DS022522,MONDO:0013574 | cutis laxa - Marfanoid syndrome | OMIM ID:614100 | MeSH ID:C563639 | Cutis Laxa-Marfanoid Syndrome | UMLS ID:C0432335 +BMGC_DS06610,BMG_DS022523,DOID:0070144 | autosomal recessive cutis laxa type I | UMLS ID:C0432336 +BMGC_DS06611,BMG_DS022528,Uncombable hair syndrome (disorder) | MeSH ID:C536939 | UMLS ID:C0432347 | SNOMEDCT ID:254232009 | Spun glass hair | Uncombable hair syndrome | MONDO:0008621 | Pili trianguli et canaliculi | SNOMEDCT ID:254230001 | uncombable hair syndrome +BMGC_DS06612,BMG_DS022530,isolated congenital breast hypoplasia/aplasia | MONDO:0015855 | UMLS ID:C0432357 +BMGC_DS06613,BMG_DS022531,OMIM ID:243440 | Isotretinoin embryopathy like syndrome | isotretinoin-like syndrome | UMLS ID:C0432364 | MONDO:0009473 | MeSH ID:C535542 +BMGC_DS06614,BMG_DS022551,"MeSH ID:D004314 | UMLS ID:C0432416 | Down Syndrome | Down Syndrome, Partial Trisomy 21" +BMGC_DS06615,BMG_DS022552,"MeSH ID:D004314 | Down Syndrome | Trisomy 21, Meiotic Nondisjunction | UMLS ID:C0432417" +BMGC_DS06616,BMG_DS022568,DOID:0060406 | chromosome 18p deletion syndrome | MeSH ID:C538309 | OMIM ID:146390 | Chromosome 18p deletion syndrome | MONDO:0007800 | UMLS ID:C0432442 +BMGC_DS06617,BMG_DS022569,18p- syndrome | chromosome 18q deletion syndrome | Deletion of long arm of chromosome 18 | Deletion of long arm of chromosome 18 (disorder) | MONDO:0011147 | 18q- syndrome | SNOMEDCT ID:270889005 | OMIM ID:601808 | Deletion of arm of chromosome 18: [long] or [p] (disorder) | SNOMEDCT ID:205631008 | UMLS ID:C0432443 | Deletion of arm of chromosome 18: [long] or [p] +BMGC_DS06618,BMG_DS022593,post-transplant lymphoproliferative disease | UMLS ID:C0432487 | MONDO:0019088 +BMGC_DS06619,BMG_DS022594,UMLS ID:C0432520 | MONDO:0004673 | DOID:8883 | lower lip cancer +BMGC_DS06620,BMG_DS022596,Nodular fasciitis (disorder) | DOID:9599 | SNOMEDCT ID:254737002 | SNOMEDCT ID:35548007 | Pseudosarcomatous fibromatosis | Infiltrative fasciitis | Pseudosarcomatous fasciitis | Proliferative fasciitis (morphologic abnormality) | UMLS ID:C0432528 | Proliferative fasciitis (disorder) | proliferative fasciitis | MONDO:0004831 | SNOMEDCT ID:1295239009 | Proliferative fasciitis | Nodular fasciitis +BMGC_DS06621,BMG_DS022597,intravascular fasciitis | Intravascular fasciitis (disorder) | UMLS ID:C0432529 | MONDO:0004836 | DOID:9603 | Intravascular fasciitis | SNOMEDCT ID:254738007 +BMGC_DS06622,BMG_DS022598,upper lip cancer | DOID:8630 | UMLS ID:C0432579 +BMGC_DS06623,BMG_DS022599,DOID:9125 | lower gum cancer | UMLS ID:C0432581 | MONDO:0004713 +BMGC_DS06624,BMG_DS022629,Granulomatous orchitis | MONDO:0002509 | granulomatous orchitis | Non-specific granulomatous orchitis (disorder) | SNOMEDCT ID:50390006 | Non-specific granulomatous orchitis | UMLS ID:C0436545 | non-specific granulomatous orchitis | DOID:3089 +BMGC_DS06625,BMG_DS022631,"UMLS ID:C0438414 | Epilepsies, Myoclonic | MeSH ID:D004831 | Myoclonic Encephalopathy" +BMGC_DS06626,BMG_DS022646,UMLS ID:C0439857 | DOID:9973 | substance dependence +BMGC_DS06627,BMG_DS022651,SNOMEDCT ID:277317008 | SNOMEDCT ID:193167000 | UMLS ID:C0442874 | Neuropathy (disorder) | Neuropathy (nerve damage) | PN - Peripheral neuropathy | neuropathy | DOID:870 | Peripheral neuropathy | Disorder of the peripheral nervous system | OMIM ID:MTHU016030 | SNOMEDCT ID:42658009 | SNOMEDCT ID:264554005 | Disorder of the peripheral nervous system (disorder) | Neuropathy | SNOMEDCT ID:277878001 | SNOMEDCT ID:386033004 +BMGC_DS06628,BMG_DS022658,OMIM ID:MTHU014570 | Urolith in urinary system | UMLS ID:C0451641 | MONDO:0024647 | SNOMEDCT ID:198527007 | SNOMEDCT ID:95566004 | Urinary stone | urolithiasis | Urolithiasis | Urolithiasis (disorder) | Urinary calculus | DOID:0080653 | MeSH ID:D052878 +BMGC_DS06629,BMG_DS022664,DOID:0090115 | Neuropathy in association with hereditary ataxia (disorder) | SNOMEDCT ID:193165008 | ICD10 ID:G60.2 | spinocerebellar ataxia with axonal neuropathy 1 | ICD11 ID:8A03.15 | Ataxia due to mitochondrial mutations | Neuropathy in association with hereditary ataxia | UMLS ID:C0451669 +BMGC_DS06630,BMG_DS022674,"Infarction, Posterior Cerebral Artery | MeSH ID:D020762 | UMLS ID:C0451681 | Posterior Cerebral Artery Syndrome" +BMGC_DS06631,BMG_DS022686,Immune dysregulation syndromes presenting primarily with lymphoproliferation | Immunodeficiency following hereditary defective response to Epstein-Barr virus | SNOMEDCT ID:191008001 | X-linked lymphoproliferative syndrome 1 | X-linked lymphoproliferative syndrome 2 | ICD11 ID:4A01.22 | UMLS ID:C0451697 | Immunodeficiency following hereditary defective response to Epstein-Barr virus (disorder) | DOID:0060706;DOID:0060705 | ICD10 ID:D82.3 +BMGC_DS06632,BMG_DS022704,"SNOMEDCT ID:197594005 | Nephrotic syndrome, focal and segmental glomerular lesions | Nephrotic syndrome, focal and segmental glomerular lesions (disorder) | UMLS ID:C0451720" +BMGC_DS06633,BMG_DS022818,"Acquired conductive hearing loss | Conductive hearing loss, bilateral (disorder) | Conductive hearing loss, bilateral | UMLS ID:C0452136 | ICD11 ID:AB51.0 | OMIM ID:MTHU046055 | SNOMEDCT ID:194417009 | ICD10 ID:H90.0" +BMGC_DS06634,BMG_DS022820,Sensorineural hearing loss of bilateral ears | SNOMEDCT ID:194424005 | Sensorineural hearing loss of both ears | UMLS ID:C0452138 | Sensorineural hearing loss of bilateral ears (disorder) +BMGC_DS06635,BMG_DS022856,UMLS ID:C0454542 | stuttering | DOID:0060243 +BMGC_DS06636,BMG_DS022882,Dyskinesias | Oral Dyskinesia | MeSH ID:D020820 | UMLS ID:C0454606 +BMGC_DS06637,BMG_DS022901,Expressive language delay (disorder) | Expressive language delay | Expressive developmental language delay | SNOMEDCT ID:229734008 | UMLS ID:C0454641 | OMIM ID:MTHU018110 | Developmental expressive language delay +BMGC_DS06638,BMG_DS022905,Benedict Syndrome | MeSH ID:D020526 | Brain Stem Infarctions | UMLS ID:C0455715 +BMGC_DS06639,BMG_DS022906,Brain Stem Infarctions | UMLS ID:C0455716 | Foville Syndrome | MeSH ID:D020526 +BMGC_DS06640,BMG_DS022907,Weber Syndrome | MONDO:0023642 | MeSH ID:D020526 | UMLS ID:C0455717 | Brain Stem Infarctions | Weber syndrome +BMGC_DS06641,BMG_DS022908,Brain Stem Infarctions | MeSH ID:D020526 | Top of the Basilar Syndrome | UMLS ID:C0455718 +BMGC_DS06642,BMG_DS022918,"MeSH ID:D015160 | Hydrops Fetalis | MONDO:0009369 | non-immune hydrops fetalis | Hydrops Fetalis, Non-Immune | OMIM ID:236750 | UMLS ID:C0455988" +BMGC_DS06643,BMG_DS022919,MeSH ID:D015160 | Hydrops Fetalis | UMLS ID:C0455990 | immune hydrops fetalis | Immune Hydrops Fetalis | MONDO:0018221 +BMGC_DS06644,BMG_DS022974,neonatal sepsis | MONDO:0700217 | Sepsis of the newborn | UMLS ID:C0456103 | Sepsis of the newborn (disorder) | SNOMEDCT ID:206376005 +BMGC_DS06645,BMG_DS022977,Neonatal meningitis (disorder) | SNOMEDCT ID:276674008 | UMLS ID:C0456107 | Neonatal meningitis +BMGC_DS06646,BMG_DS022991,Osteopenic rickets | Osteopenia of prematurity (disorder) | SNOMEDCT ID:276703007 | Osteopenia of prematurity | UMLS ID:C0456127 +BMGC_DS06647,BMG_DS022996,DOID:0080365 | MeSH ID:D004714 | MONDO:0006410;MONDO:0041161 | UMLS ID:C0456483 | obsolete endometrial hyperplasia | Endometrial Hyperplasia | simple endometrial hyperplasia | endometrial hyperplasia | Simple Endometrial Hyperplasia +BMGC_DS06648,BMG_DS022997,UMLS ID:C0456487 | Peutz-Jeghers polyp | DOID:3852 | Peutz-Jeghers syndrome | MONDO:0006365 +BMGC_DS06649,BMG_DS023001,"UMLS ID:C0456516 | Median Neuropathy, Proximal | MeSH ID:D020423 | Median Neuropathy" +BMGC_DS06650,BMG_DS023015,DOID:9547 | non-secretory myeloma | UMLS ID:C0456845 +BMGC_DS06651,BMG_DS023017,UMLS ID:C0456889 | enteropathy-associated T-cell lymphoma | MONDO:0019473 +BMGC_DS06652,BMG_DS023018,MONDO:0009936 | familial primary pulmonary hypoplasia | OMIM ID:265430 | UMLS ID:C0456891 +BMGC_DS06653,BMG_DS023019,Blindness (finding) | Visual impairment | LV - Low vision | UMLS ID:C0456909 | Difficulty seeing | Impaired vision | Unable to see | UTS - Unable to see | Decreased vision | Abnormal vision | Vision problem (disorder) | Partial sight | SNOMEDCT ID:40031005 | Problem seeing | Reduced ability to see | Cannot see | OMIM ID:MTHU001370 | Visual loss | Loss of vision | SNOMEDCT ID:139548004 | MeSH ID:D001766 | Sight impaired | Problem sight | Visual disorder | blindness (disorder) | Poor vision | MONDO:0001941 | Vision problem | Blindness | Low vision | Can't see properly | Cannot see properly +BMGC_DS06654,BMG_DS023027,"SNOMEDCT ID:277807007 | OMIM ID:193530 | UMLS ID:C0457013 | Curry-Hall syndrome (disorder) | MONDO:0008673 | MeSH ID:C536695 | DOID:0111571 | Acrofacial dysostosis Weyers type | Curry-Hall syndrome | acrofacial dysostosis, Weyers type | Weyers acrodental dysostosis | Weyers acrofacial dysostosis" +BMGC_DS06655,BMG_DS023030,MONDO:0018939 | UMLS ID:C0457133 | Muscle eye brain disease | SNOMEDCT ID:277950001 | Muscle eye brain disease (disorder) | muscle-eye-brain disease +BMGC_DS06656,BMG_DS023060,DOID:3223 | MONDO:0019369 | MeSH ID:D020918 | UMLS ID:C0458219 | complex regional pain syndrome | Complex Regional Pain Syndromes +BMGC_DS06657,BMG_DS023108,UMLS ID:C0472367 | Generalized myasthenia (disorder) | SNOMEDCT ID:230686005 | Generalized myasthenia | Generalised myasthenia +BMGC_DS06658,BMG_DS023109,UMLS ID:C0472369 | Hemorrhagic cerebral infarction (disorder) | SNOMEDCT ID:230706003 | Haemorrhagic cerebral infarction | Hemorrhagic cerebral infarction +BMGC_DS06659,BMG_DS023112,"MeSH ID:D002546 | UMLS ID:C0472381 | Posterior Circulation Transient Ischemic Attack | Ischemic Attack, Transient" +BMGC_DS06660,BMG_DS023127,cavernous hemangiomas of face-supraumbilical midline raphe syndrome | MONDO:0007706 | OMIM ID:140850 | UMLS ID:C0472694 +BMGC_DS06661,BMG_DS023138,Nephrogenic anaemia | Anaemia of renal disease | Anemia of renal disease | SNOMEDCT ID:234348004 | Nephrogenic anemia | Anemia of renal disease (disorder) | UMLS ID:C0472713 +BMGC_DS06662,BMG_DS023171,UMLS ID:C0472762 | Alpha thalassemia trait | Alpha trait thalassemia (disorder) | Alpha trait thalassaemia | Alpha trait thalassemia | SNOMEDCT ID:191187006 | Alpha thalassaemia trait +BMGC_DS06663,BMG_DS023175,Beta thalassemia intermedia (disorder) | Beta thalassemia intermedia | beta-thalassemia intermedia | SNOMEDCT ID:191189009 | UMLS ID:C0472767 | Beta thalassaemia intermedia | MONDO:0016487 +BMGC_DS06664,BMG_DS023181,Double heterozygous for Hb E and beta thalassemia | Hemoglobin E/beta thalassemia disease | hemoglobin E-beta-thalassemia syndrome | MONDO:0016491 | UMLS ID:C0472777 | Haemoglobin E/beta thalassaemia disease | Hemoglobin E/beta thalassemia disease (disorder) | SNOMEDCT ID:234392002 | Double heterozygous for Hb E and beta thalassaemia +BMGC_DS06665,BMG_DS023193,Hemolytic anemia due to hexokinase deficiency (disorder) | Hemolytic anemia due to hexokinase deficiency | Haemolytic anaemia due to hexokinase deficiency | SNOMEDCT ID:191177007 | UMLS ID:C0472792 +BMGC_DS06666,BMG_DS023202,Hypodysfibrinogenaemia | UMLS ID:C0472803 | SNOMEDCT ID:234458004 | Hypodysfibrinogenemia | Hypodysfibrinogenemia (disorder) +BMGC_DS06667,BMG_DS023209,X-linked agammaglobulinaemia with growth hormone deficiency | X-linked agammaglobulinemia with growth hormone deficiency | X-linked agammaglobulinemia with growth hormone deficiency (disorder) | UMLS ID:C0472813 | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia | Fleisher syndrome | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinaemia | isolated growth hormone deficiency type III | OMIM ID:307200 | SNOMEDCT ID:234533006 | MONDO:0010615 +BMGC_DS06668,BMG_DS023212,UMLS ID:C0472817 | MONDO:0023880 | MeSH ID:C536697 | WHIM syndrome 1 | DOID:0060591 | WHIM syndrome +BMGC_DS06669,BMG_DS023236,"MONDO:0020728 | UMLS ID:C0473219 | OMIM ID:220150 | hypouricemia, renal 1 | MeSH ID:C537757 | Renal hypouricemia" +BMGC_DS06670,BMG_DS023298,Hypoalphalipoproteinemias | UMLS ID:C0473527 | MeSH ID:D052456 +BMGC_DS06671,BMG_DS023307,MeSH ID:C536347 | SNOMEDCT ID:238694002 | OMIM ID:125630 | UMLS ID:C0473546 | MONDO:0007447;MONDO:0034556 | Vibratory angio-oedema | Vibratory angioedema (disorder) | autosomal dominant vibratory urticaria | OMIM ID:193050 | vibratory angioedema | Vibratory angioedema +BMGC_DS06672,BMG_DS023322,MONDO:0006520 | Achenbach syndrome | DOID:6687 | UMLS ID:C0473563 +BMGC_DS06673,BMG_DS023328,porokeratotic eccrine ostial and dermal duct nevus | UMLS ID:C0473579 | MONDO:0015635 +BMGC_DS06674,BMG_DS023330,MeSH ID:C537575 | UMLS ID:C0473586 | MONDO:0007990 | Michelin tire baby syndrome | multiple benign circumferential skin creases on limbs +BMGC_DS06675,BMG_DS023406,SNOMEDCT ID:87194000 | Nerve fibre bundle defect | DOID:5678 | nerve fibre bundle defect | UMLS ID:C0474334 | Nerve fiber bundle defect | Nerve fiber bundle defect (disorder) +BMGC_DS06676,BMG_DS023411,Optic Disc Neovascularization | UMLS ID:C0474354 | Retinal Neovascularization | MeSH ID:D015861 +BMGC_DS06677,BMG_DS023418,SNOMEDCT ID:49362009 | DOID:11034 | Contact lens corneal edema | Corneal oedema caused by contact lens | Corneal edema caused by wearing of contact lenses | Contact lens-induced central corneal oedema | Contact lens corneal oedema | Corneal edema caused by contact lens | Corneal edema caused by wearing of contact lenses (disorder) | UMLS ID:C0474442 | MONDO:0001183 | Contact lens-induced central corneal edema | Corneal oedema caused by wearing of contact lenses | contact lens corneal edema +BMGC_DS06678,BMG_DS023421,endometrioid tumor | female reproductive endometrioid cancer | DOID:3001 | UMLS ID:C0474809 | MONDO:0002480 +BMGC_DS06679,BMG_DS023427,DOID:6345 | MONDO:0003863 | malignant melanocytic neoplasm of the peripheral nerve sheath | UMLS ID:C0474847 +BMGC_DS06680,BMG_DS023429,UMLS ID:C0474962 | DOID:8630 | upper lip cancer +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 | DOID:3148 +BMGC_DS06683,BMG_DS023495,MONDO:0045011 | UMLS ID:C0475811 | keratinization disease | Disorder of keratinization | Disorder of keratinization (disorder) | Disorder of keratinisation | SNOMEDCT ID:277905003 +BMGC_DS06684,BMG_DS023496,Alpha thalassaemia-mental retardation syndrome | Alpha thalassemia-mental retardation syndrome (disorder) | UMLS ID:C0475813 | Alpha thalassemia-mental retardation syndrome | SNOMEDCT ID:277918006 +BMGC_DS06685,BMG_DS023498,endometrial carcinoma | UMLS ID:C0476089 | DOID:2871 | MONDO:0002447 +BMGC_DS06686,BMG_DS023499,ovarian papillary neoplasm | UMLS ID:C0476121 | DOID:6214 | ovarian papillary tumor | MONDO:0003813 +BMGC_DS06687,BMG_DS023501,hemangiopericytic tumor | UMLS ID:C0476144 | MONDO:0002789 | DOID:3850 +BMGC_DS06688,BMG_DS023503,MONDO:0002528 | synovium neoplasm | DOID:315 | UMLS ID:C0476203 +BMGC_DS06689,BMG_DS023504,dyslexia | DOID:4428 | MONDO:0005489 | UMLS ID:C0476254 +BMGC_DS06690,BMG_DS023505,OMIM ID:607578 | UMLS ID:C0476287 | MONDO:0011861 | breath-holding Spells +BMGC_DS06691,BMG_DS023521,"alpha-2-plasmin inhibitor deficiency | DOID:0060601 | Coagulation defects, unspecified | Other specified coagulation defects | ICD11 ID:3B4Z | UMLS ID:C0477316 | ICD10 ID:D68.8" +BMGC_DS06692,BMG_DS023522,"ICD11 ID:3B64.Z | DOID:8925;DOID:0060691;DOID:0090102;DOID:0060651;DOID:0111048;DOID:8925 | ICD10 ID:D69.49 | autosomal dominant isolated macrothrombocytopenia 1 | primary thrombocytopenia | platelet-type bleeding disorder 16 | UMLS ID:C0477317 | MYH-9 related disease | platelet-type bleeding disorder 19 | ICD10 ID:D69.4 | Thrombocytopenia, unspecified | Other primary thrombocytopenia" +BMGC_DS06693,BMG_DS023523,"autoimmune lymphoproliferative syndrome type 4 | UMLS ID:C0477318 | DOID:0110117 | ICD10 ID:D72.89 | ICD10 ID:D72.8 | Immune system disorders involving white cell lineages, unspecified | Other specified disorders of white blood cells | ICD11 ID:4B0Z" +BMGC_DS06694,BMG_DS023528,"ICD10 ID:D81.89 | UMLS ID:C0477324 | DOID:0060010 | ICD11 ID:4A01.1Z | ICD10 ID:D81.8 | Omenn syndrome | Combined immunodeficiencies, unspecified | Other combined immunodeficiencies" +BMGC_DS06695,BMG_DS023545,DOID:13839 | extrapyramidal and movement disease | MONDO:0001815 | UMLS ID:C0477355 +BMGC_DS06696,BMG_DS023549,episodic kinesigenic dyskinesia 1 | Other specified dystonic disorders | Other dystonia | DOID:0090052;DOID:0090051;DOID:0090053;DOID:0090049 | paroxysmal nonkinesigenic dyskinesia 1 | ICD10 ID:G24.8 | dystonia 23 | dystonia 24 | ICD11 ID:8A02.Y | UMLS ID:C0477360 +BMGC_DS06697,BMG_DS023550,"UMLS ID:C0477362 | hyperekplexia 3 | DOID:0060697;DOID:0060698 | ICD10 ID:G25.89 | hyperekplexia 2 | Other specified extrapyramidal and movement disorders | ICD11 ID:8A0Z | ICD10 ID:G25.8 | Movement disorders, unspecified" +BMGC_DS06698,BMG_DS023552,"Other specified degenerative diseases of nervous system | Disorders with neurocognitive impairment as a major feature, unspecified | ICD11 ID:8A2Z | ICD10 ID:G31.89 | DOID:0050629 | UMLS ID:C0477365 | Aicardi-Goutieres syndrome | ICD10 ID:G31.8" +BMGC_DS06699,BMG_DS023558,SNOMEDCT ID:193037008 | Other forms of migraine | DOID:0060178 | familial hemiplegic migraine | UMLS ID:C0477373 | Other forms of migraine (disorder) +BMGC_DS06700,BMG_DS023566,"ICD11 ID:8C4Z | UMLS ID:C0477392 | Other hereditary and idiopathic neuropathies | hereditary sensory and autonomic neuropathy type 6 | DOID:0070158;DOID:0070149;DOID:0070151 | hereditary sensory neuropathy type 1E | ICD10 ID:G60.8 | Disorders of nerve root, plexus or peripheral nerves, unspecified | hereditary sensory and autonomic neuropathy type 7" +BMGC_DS06701,BMG_DS023591,Hydrocephalus | Post-Traumatic Hydrocephalus | MeSH ID:D006849 | UMLS ID:C0477432 +BMGC_DS06702,BMG_DS023656,hyperphosphatemic familial tumoral calcinosis | Chondrocalcinosis | ICD11 ID:FA26.2 | ICD10 ID:M11.2 | Other chondrocalcinosis | UMLS ID:C0477548 | DOID:0111063 +BMGC_DS06703,BMG_DS023744,"karyomegalic interstitial nephritis | Other chronic tubulo-interstitial nephritis | DOID:0060911 | Chronic tubulointerstitial nephritis, unspecified | UMLS ID:C0477729 | ICD11 ID:GB55.Z | ICD10 ID:N11.8" +BMGC_DS06704,BMG_DS023761,UMLS ID:C0477757 | ICD10 ID:N39.49 | ICD10 ID:N39.498 | ICD10 ID:N39.4 | Other specified urinary incontinence +BMGC_DS06705,BMG_DS023815,autosomal dominant keratitis-ichthyosis-deafness syndrome | DOID:0060871;DOID:0060720 | ICD10 ID:Q80.8 | ICD11 ID:EC20.Y | autosomal recessive congenital ichthyosis 11 | UMLS ID:C0478084 | Other congenital ichthyosis | Other specified genetic disorders of keratinisation +BMGC_DS06706,BMG_DS023817,"Structural developmental anomalies of the skeleton, unspecified | DOID:0110097;DOID:0060179 | ICD11 ID:LB9Z | UMLS ID:C0478093 | Renpenning syndrome | ICD10 ID:Q87.5 | short-rib thoracic dysplasia 9 with or without polydactyly | Other congenital malformation syndromes with other skeletal changes" +BMGC_DS06707,BMG_DS023831,UMLS ID:C0489959 | DOID:8481 | rheumatic myocarditis +BMGC_DS06708,BMG_DS023834,UMLS ID:C0489967 | MONDO:0001446 | low compliance bladder | Low compliance bladder | Hypertonic bladder | Low compliance urinary bladder | SNOMEDCT ID:9009001 | Low compliance urinary bladder (disorder) | DOID:12144 +BMGC_DS06709,BMG_DS023844,DOID:14019 | Infection caused by Brucella canis | Infection due to Brucella canis | Canine brucellosis | Canine abortion syndrome | Brucella canis infection | SNOMEDCT ID:428174001 | Canine brucellosis (disorder) | Infection caused by Brucella canis (disorder) | Brucella canis brucellosis | MONDO:0001857 | UMLS ID:C0494040 | SNOMEDCT ID:78576009 +BMGC_DS06710,BMG_DS023889,UMLS ID:C0494158 | kidney cancer | DOID:263 +BMGC_DS06711,BMG_DS023892,ICD10 ID:D53 | Other nutritional anemias | UMLS ID:C0494219 +BMGC_DS06712,BMG_DS023899,Other hereditary hemolytic anemias | UMLS ID:C0494230 | ICD10 ID:D58 +BMGC_DS06713,BMG_DS023910,"immunodeficiency-centromeric instability-facial anomalies syndrome | immunodeficiency-centromeric instability-facial anomalies syndrome 1 | ICD10 ID:D84.8 | UMLS ID:C0494266 | Other specified immunodeficiencies | Diseases of the immune system, unspecified | 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 | ICD11 ID:4B4Z" +BMGC_DS06714,BMG_DS023913,ICD10 ID:E03 | Other hypothyroidism | UMLS ID:C0494271 +BMGC_DS06715,BMG_DS023919,UMLS ID:C0494304 | Hyperparathyroidism and other disorders of parathyroid gland | ICD10 ID:E21 +BMGC_DS06716,BMG_DS023921,ICD10 ID:E23 | Hypofunction and other disorders of the pituitary gland | UMLS ID:C0494308 +BMGC_DS06717,BMG_DS023923,ICD10 ID:E27 | Other disorders of adrenal gland | UMLS ID:C0494313 +BMGC_DS06718,BMG_DS023929,ICD10 ID:E71 | Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism | UMLS ID:C0494332 +BMGC_DS06719,BMG_DS023930,UMLS ID:C0494334 | ICD10 ID:E72 | Other disorders of amino-acid metabolism +BMGC_DS06720,BMG_DS023931,ICD10 ID:E74 | Other disorders of carbohydrate metabolism | UMLS ID:C0494336 +BMGC_DS06721,BMG_DS023932,ICD10 ID:E75 | Disorders of sphingolipid metabolism and other lipid storage disorders | UMLS ID:C0494338 +BMGC_DS06722,BMG_DS023934,Disorders of porphyrin and bilirubin metabolism | UMLS ID:C0494347 | ICD10 ID:E80 +BMGC_DS06723,BMG_DS023939,"ICD11 ID:5D2Z | congenital generalized lipodystrophy type 3 | UMLS ID:C0494360 | Metabolic disorders, unspecified | congenital generalized lipodystrophy type 4 | Lipodystrophy, not elsewhere classified | congenital generalized lipodystrophy type 1 | congenital generalized lipodystrophy type 2 | DOID:0111137;DOID:0111136;DOID:0111138;DOID:0111135 | ICD10 ID:E88.1" +BMGC_DS06724,BMG_DS023950,ICD10 ID:G12 | UMLS ID:C0494452 | Spinal muscular atrophy and related syndromes +BMGC_DS06725,BMG_DS023954,"MeSH ID:D000544 | UMLS ID:C0494463 | Alzheimer Disease, Late Onset | Alzheimer Disease" +BMGC_DS06726,BMG_DS023955,"Other degenerative diseases of nervous system, not elsewhere classified | ICD10 ID:G31 | UMLS ID:C0494464" +BMGC_DS06727,BMG_DS023965,UMLS ID:C0494491 | Mononeuropathies | MONDO:0001397 | DOID:1188 | MeSH ID:D020422 | mononeuropathy +BMGC_DS06728,BMG_DS023971,Other disorders of brain | ICD10 ID:G93 | UMLS ID:C0494513 +BMGC_DS06729,BMG_DS023987,MONDO:0002467 | inner ear disease | inner ear disorder | UMLS ID:C0494559 | DOID:2952 +BMGC_DS06730,BMG_DS023988,"UMLS ID:C0494566 | Other disorders of ear, not elsewhere classified | ICD10 ID:H93" +BMGC_DS06731,BMG_DS023995,ICD10 ID:I27 | Other pulmonary heart diseases | UMLS ID:C0494585 +BMGC_DS06732,BMG_DS024047,"Noninfective gastroenteritis and colitis, unspecified | Diseases of the digestive system, unspecified | ileocolitis | ICD11 ID:DE2Z | UMLS ID:C0494762 | ICD10 ID:K52.9 | DOID:0060190" +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,UMLS ID:C0494897 | ICD10 ID:M06 | Other rheumatoid arthritis +BMGC_DS06736,BMG_DS024086,Other arthritis | UMLS ID:C0494904 | ICD10 ID:M13 +BMGC_DS06737,BMG_DS024090,"Other joint disorder, not elsewhere classified | ICD10 ID:M25 | UMLS ID:C0494938" +BMGC_DS06738,BMG_DS024108,Other disorders of bone density and structure | ICD10 ID:M85 | UMLS ID:C0495004 +BMGC_DS06739,BMG_DS024109,ICD10 ID:M89 | Other disorders of bone | UMLS ID:C0495006 +BMGC_DS06740,BMG_DS024140,hernia of ovary and fallopian tube | DOID:12735 | UMLS ID:C0495094 +BMGC_DS06741,BMG_DS024172,congenital secretory sodium diarrhea 3 | congenital diarrhea 7 with exudative enteropathy | congenital diarrhea 6 | ICD10 ID:P78.3 | Noninfectious neonatal diarrhoea | ICD11 ID:KB8C | congenital secretory sodium diarrhea 8 | DOID:0060779;DOID:0060776;DOID:0060777;DOID:0060780;DOID:0060781;DOID:0060778 | congenital diarrhea 5 with tufting enteropathy | UMLS ID:C0495452 | Noninfective neonatal diarrhea | congenital malabsorptive diarrhea 4 +BMGC_DS06742,BMG_DS024179,DOID:8712 | neurofibromatosis | UMLS ID:C0495632 +BMGC_DS06743,BMG_DS024180,Other specified congenital malformation syndromes affecting multiple systems | ICD10 ID:Q87 | UMLS ID:C0495636 +BMGC_DS06744,BMG_DS024181,Congenital malformation syndromes involving early overgrowth | CLOVES syndrome | ICD10 ID:Q87.3 | UMLS ID:C0495640 | Overgrowth syndromes | DOID:0080351 | ICD11 ID:LD2C +BMGC_DS06745,BMG_DS024184,tongue cancer | UMLS ID:C0496755 | DOID:8649 +BMGC_DS06746,BMG_DS024185,oral cavity cancer | DOID:8618 | UMLS ID:C0496758 +BMGC_DS06747,BMG_DS024187,epiglottis cancer | UMLS ID:C0496765 | DOID:8133 +BMGC_DS06748,BMG_DS024188,DOID:8660 | postcricoid region cancer | UMLS ID:C0496769 | MONDO:0004635 +BMGC_DS06749,BMG_DS024189,DOID:8533 | hypopharynx cancer | UMLS ID:C0496770 +BMGC_DS06750,BMG_DS024191,malignant neoplasm of abdominal esophagus | esophageal cancer | UMLS ID:C0496775 | MONDO:0021324 | DOID:5041 +BMGC_DS06751,BMG_DS024192,appendix cancer | MONDO:0001235 | DOID:11239 | UMLS ID:C0496779 +BMGC_DS06752,BMG_DS024193,UMLS ID:C0496784 | DOID:1799 | islet cell tumor +BMGC_DS06753,BMG_DS024195,labium majus cancer | MONDO:0001403 | UMLS ID:C0496814 | DOID:11905 +BMGC_DS06754,BMG_DS024196,UMLS ID:C0496815 | DOID:1243 | labia minora cancer | MONDO:0001526 +BMGC_DS06755,BMG_DS024197,bladder trigone cancer | DOID:11813 | MONDO:0001375 | UMLS ID:C0496826 +BMGC_DS06756,BMG_DS024198,bladder dome cancer | DOID:11820 | UMLS ID:C0496827 | MONDO:0001380 +BMGC_DS06757,BMG_DS024199,UMLS ID:C0496828 | MONDO:0001319 | DOID:11593 | bladder lateral wall cancer +BMGC_DS06758,BMG_DS024200,UMLS ID:C0496833 | DOID:4352 | ciliary body cancer | MONDO:0002969 +BMGC_DS06759,BMG_DS024202,MONDO:0851100 | DOID:370 | UMLS ID:C0496838 | malignant olfactory nerve neoplasm +BMGC_DS06760,BMG_DS024203,UMLS ID:C0496842 | pituitary cancer | DOID:1785 | MONDO:0002109 +BMGC_DS06761,BMG_DS024204,UMLS ID:C0496854 | liver carcinoma in situ | DOID:9132 +BMGC_DS06762,BMG_DS024216,SNOMEDCT ID:139134006 | SNOMEDCT ID:161878009 | Lymphadenopathy (finding) | Lymphadenopathy (disorder) | OMIM ID:MTHU002630 | Lymphadenopathy | Swelling of lymph nodes | SNOMEDCT ID:30746006 | SNOMEDCT ID:271821001 | Enlargement of lymph nodes | MeSH ID:D000072281 | UMLS ID:C0497156 +BMGC_DS06763,BMG_DS024218,cardiovascular cancer | UMLS ID:C0497243 | DOID:176 | MONDO:0024757 | cardiovascular neoplasm +BMGC_DS06764,BMG_DS024220,dementia | MONDO:0001627 | UMLS ID:C0497327 +BMGC_DS06765,BMG_DS024224,UMLS ID:C0497552 | congenital nervous system disorder | MONDO:0002320 +BMGC_DS06766,BMG_DS024229,SNOMEDCT ID:64479007 | Pneumonia caused by Klebsiella pneumoniae | Pneumonia due to Klebsiella pneumoniae | MONDO:0030602 | Pneumonia caused by Klebsiella pneumoniae (disorder) | Klebsiella pneumonia | ICD11 ID:CA40.03 | ICD10 ID:J15.0 | UMLS ID:C0519030 +BMGC_DS06767,BMG_DS024231,MONDO:0002035 | colon lymphoma | DOID:1523 | UMLS ID:C0519037 +BMGC_DS06768,BMG_DS024234,lung lymphoma | UMLS ID:C0519063 | DOID:6760 +BMGC_DS06769,BMG_DS024238,"MONDO:0005313 | perinatal necrotizing enterocolitis | Enterocolitis, Necrotizing | Necrotizing Enterocolitis | MeSH ID:D020345 | UMLS ID:C0520459 | necrotizing enterocolitis | DOID:8677" +BMGC_DS06770,BMG_DS024241,somatoform disorder | UMLS ID:C0520482 | MONDO:0001830 | somatization disorder | DOID:13918;DOID:4737 +BMGC_DS06771,BMG_DS024261,UMLS ID:C0520571 | MONDO:0041959 | Fibrosis of bile duct | SNOMEDCT ID:48124008 | Biliary sclerosis | Biliary duct fibrosis | fibrosis of bile duct | Fibrosis of bile duct (disorder) +BMGC_DS06772,BMG_DS024264,SNOMEDCT ID:22352007 | SNOMEDCT ID:155862004 | SNOMEDCT ID:36689008 | Acute PN - pyelonephritis | Pyonephrosis - acute | Acute kidney infection | ICD10 ID:N10 | Acute bacterial tubulointerstitial nephritis (disorder) | Acute pyonephrosis | MONDO:0003529 | (Acute pyelonephritis) or (acute pyonephrosis) (disorder) | DOID:559 | UMLS ID:C0520575 | SNOMEDCT ID:266620001 | APN - Acute pyelonephritis | Acute bacterial TIN (tubulointerstitial nephritis) | Acute pyelonephritis (disorder) | acute pyelonephritis | Acute pyelonephritis | (Acute pyelonephritis) or (acute pyonephrosis) | Acute bacterial tubulointerstitial nephritis +BMGC_DS06773,BMG_DS024266,Urethral atrophy (disorder) | SNOMEDCT ID:52620003 | Urethral atrophy | UMLS ID:C0520577 +BMGC_DS06774,BMG_DS024274,"Sleep Apnea, Obstructive | UMLS ID:C0520679 | obstructive sleep apnea syndrome | MeSH ID:D020181 | obstructive sleep apnea | MONDO:0007147 | DOID:0050848 | OMIM ID:107650" +BMGC_DS06775,BMG_DS024275,"UMLS ID:C0520680 | Sleep Apnea, Central | DOID:9220 | MeSH ID:D020182 | central sleep apnea" +BMGC_DS06776,BMG_DS024283,MONDO:0009790 | MeSH ID:C563002 | OMIM ID:258700 | UMLS ID:C0520711 | Opticocochleodentate Degeneration | Opticocochleodentate degeneration +BMGC_DS06777,BMG_DS024286,UMLS ID:C0520716 | frontotemporal dementia | SNOMEDCT ID:42369001 | Pallidopontonigral degeneration (disorder) | DOID:9255 | Pallidopontonigral degeneration +BMGC_DS06778,BMG_DS024288,"Muscular Disorders, Atrophic | Spinopontine Atrophy | UMLS ID:C0520719 | MeSH ID:D020966" +BMGC_DS06779,BMG_DS024293,"UMLS ID:C0520731 | Nystagmus, Pathologic | Retraction Nystagmus | MeSH ID:D009759" +BMGC_DS06780,BMG_DS024298,"Hereditary elliptocytosis | UMLS ID:C0520739 | MONDO:0009948 | OMIM ID:266140 | HPP - hereditary pyropoikilocytosis | Hereditary elliptocytosis (disorder) | SNOMEDCT ID:58864003 | Hereditary pyropoikilocytosis | pyropoikilocytosis, hereditary | Hereditary pyropoikilocytosis (disorder) | SNOMEDCT ID:9434008" +BMGC_DS06781,BMG_DS024307,Staphylococcal endocarditis (disorder) | UMLS ID:C0520767 | SNOMEDCT ID:73028002 | Staphylococcal endocarditis +BMGC_DS06782,BMG_DS024313,Klebsiella cystitis | UMLS ID:C0520775 | Klebsiella cystitis (disorder) | SNOMEDCT ID:60867007 +BMGC_DS06783,BMG_DS024314,SNOMEDCT ID:188463006 | Pelvic inflammation with female sterility due to Chlamydia trachomatis | Pelvic inflammation with female sterility due to Chlamydia trachomatis (disorder) | UMLS ID:C0520777 | Chlamydial pelvic inflammatory disease | SNOMEDCT ID:73107008 | Chlamydial pelvic inflammatory disease (disorder) +BMGC_DS06784,BMG_DS024361,brain stem infarction | MeSH ID:D020526 | DOID:3523 | MONDO:0006686 | Brain Stem Infarctions | UMLS ID:C0521542 +BMGC_DS06785,BMG_DS024365,MONDO:0020357 | UMLS ID:C0521573 | coloboma of eyelid +BMGC_DS06786,BMG_DS024377,Peritoneal Fibrosis | MeSH ID:D056627 | UMLS ID:C0521607 +BMGC_DS06787,BMG_DS024379,MeSH ID:D041882 | emphysematous cholecystitis | DOID:9765 | Emphysematous Cholecystitis | MONDO:0005742 | UMLS ID:C0521610 +BMGC_DS06788,BMG_DS024393,Neonatal respiratory failure | Neonatal respiratory failure (disorder) | UMLS ID:C0521648 | DOID:11161 | MONDO:0001207 | SNOMEDCT ID:95619009 | neonatal respiratory failure | OMIM ID:MTHU043071 +BMGC_DS06789,BMG_DS024397,"UMLS ID:C0521659 | MeSH ID:D016472 | Motor Neuron Disease | Motor Neuron Disease, Upper" +BMGC_DS06790,BMG_DS024398,UMLS ID:C0521664 | Migraine Disorders | Acute Confusional Migraine | MeSH ID:D008881 +BMGC_DS06791,BMG_DS024401,"UMLS ID:C0521668 | Primary Thunderclap Headache | MeSH ID:D051270 | Headache Disorders, Primary" +BMGC_DS06792,BMG_DS024422,SNOMEDCT ID:405722004 | Atrophic retina | UMLS ID:C0521694 | Retinal atrophy | Atrophic retina (disorder) +BMGC_DS06793,BMG_DS024429,Bilateral cataracts (disorder) | Bilateral cataracts | UMLS ID:C0521707 | Cataracts | SNOMEDCT ID:95722004 | SNOMEDCT ID:193618003 +BMGC_DS06794,BMG_DS024440,"MONDO:0007375 | epithelial basement membrane dystrophy | MeSH ID:C535477 | DOID:0060447 | OMIM ID:121820 | UMLS ID:C0521723 | Corneal dystrophy, epithelial basement membrane" +BMGC_DS06795,BMG_DS024448,Lower eyelid ectropion | Ectropion of lower lid | SNOMEDCT ID:95758006 | Lower eyelid turned out | UMLS ID:C0521736 | Lower eyelid ectropion (disorder) +BMGC_DS06796,BMG_DS024460,"Temporary Nystagmus | Nystagmus, Pathologic | UMLS ID:C0521753 | MeSH ID:D009759" +BMGC_DS06797,BMG_DS024461,"MeSH ID:D009759 | Nystagmus, Pathologic | UMLS ID:C0521754 | Permanent Nystagmus" +BMGC_DS06798,BMG_DS024462,"MeSH ID:D009759 | Nystagmus, Pathologic | Unidirectional Nystagmus | UMLS ID:C0521755" +BMGC_DS06799,BMG_DS024463,"Multidirectional Nystagmus | Nystagmus, Pathologic | MeSH ID:D009759 | UMLS ID:C0521756" +BMGC_DS06800,BMG_DS024464,"MeSH ID:D009759 | Nystagmus, Pathologic | Conjugate Nystagmus | UMLS ID:C0521757" +BMGC_DS06801,BMG_DS024465,"UMLS ID:C0521759 | Nystagmus, Pathologic | Convergence Nystagmus | MeSH ID:D009759" +BMGC_DS06802,BMG_DS024466,"UMLS ID:C0521760 | Fatigable Positional Nystagmus | Nystagmus, Pathologic | MeSH ID:D009759" +BMGC_DS06803,BMG_DS024467,"Non-Fatigable Positional Nystagmus | Nystagmus, Pathologic | MeSH ID:D009759 | UMLS ID:C0521761" +BMGC_DS06804,BMG_DS024482,SNOMEDCT ID:111571009 | Congenital atransferrinemia (disorder) | atransferrinemia | Congenital atransferrinaemia | MONDO:0008846 | OMIM ID:209300 | MeSH ID:C538259 | Congenital atransferrinemia | UMLS ID:C0521802 +BMGC_DS06805,BMG_DS024514,"UMLS ID:C0522253 | Primary Exertional Headache | MeSH ID:D051270 | Headache Disorders, Primary" +BMGC_DS06806,BMG_DS024522,OMIM ID:618398 | MONDO:0019475 | subcutaneous panniculitis-like T-cell lymphoma | UMLS ID:C0522624 +BMGC_DS06807,BMG_DS024523,UMLS ID:C0522630 | DOID:0081084 | acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) +BMGC_DS06808,BMG_DS024524,acute myeloid leukemia with minimal differentiation | MONDO:0005223 | DOID:0081085 | UMLS ID:C0522631 +BMGC_DS06809,BMG_DS024526,UMLS ID:C0524524 | MeSH ID:D002386 | Cataract | Pseudoaphakia | MONDO:0007284 | cataract 20 multiple types | OMIM ID:116100 +BMGC_DS06810,BMG_DS024527,pervasive developmental disorder | UMLS ID:C0524528 | MONDO:0000594 +BMGC_DS06811,BMG_DS024529,OMIM ID:253250 | MeSH ID:D050336 | UMLS ID:C0524582 | MONDO:0009664 | Mulibrey Nanism | DOID:0050436 | mulibrey nanism +BMGC_DS06812,BMG_DS024530,"Chronic Alcoholic Hepatitis | Hepatitis, Alcoholic | MeSH ID:D006519 | UMLS ID:C0524610" +BMGC_DS06813,BMG_DS024531,"MeSH ID:D006521 | Hepatitis, Chronic | Cryptogenic Chronic Hepatitis | UMLS ID:C0524611" +BMGC_DS06814,BMG_DS024532,UMLS ID:C0524620 | MeSH ID:D024821 | Metabolic Syndrome X | abdominal obesity-metabolic syndrome 1 | DOID:14221 | Metabolic Syndrome +BMGC_DS06815,BMG_DS024533,Lymphatism | UMLS ID:C0524631 | Lymphatic Diseases | MeSH ID:D008206 +BMGC_DS06816,BMG_DS024534,MeSH ID:D008206 | UMLS ID:C0524632 | Lymphatic Diseases | Status Lymphaticus +BMGC_DS06817,BMG_DS024535,DOID:2559 | opiate dependence | MONDO:0005530 | UMLS ID:C0524662 +BMGC_DS06818,BMG_DS024536,MeSH ID:D009902 | Neuropapillitis | UMLS ID:C0524679 | Optic Neuritis +BMGC_DS06819,BMG_DS024537,"UMLS ID:C0524686 | Periodontitis, Acute Nonsuppurative | Periapical Periodontitis | MeSH ID:D010485" +BMGC_DS06820,BMG_DS024538,Meningeal Plague | UMLS ID:C0524687 | MeSH ID:D010930 | Plague +BMGC_DS06821,BMG_DS024539,MONDO:0001024 | Pneumonic Plague | UMLS ID:C0524688 | MeSH ID:D010930 | DOID:10398 | pneumonic plague | Plague +BMGC_DS06822,BMG_DS024540,Pulmonary Thromboembolisms | UMLS ID:C0524702 | MeSH ID:D011655 | Pulmonary Embolism +BMGC_DS06823,BMG_DS024545,"MeSH ID:D019568 | MONDO:0000925 | UMLS ID:C0524799 | DOID:10032 | hyperlucent lung | Lung, Hyperlucent" +BMGC_DS06824,BMG_DS024546,MONDO:0021231 | retina neoplasm | retinal cancer | UMLS ID:C0524801 | DOID:4645 +BMGC_DS06825,BMG_DS024547,UMLS ID:C0524802 | DOID:3419 | MONDO:0002640 | optic nerve neoplasm +BMGC_DS06826,BMG_DS024548,MONDO:0006811 | UMLS ID:C0524812 | DOID:4723 | Intracranial Hypotension | MeSH ID:D019585 | intracranial hypotension +BMGC_DS06827,BMG_DS024549,MeSH ID:D019636 | Neurodegenerative Diseases | Neurodegenerative Disorders | neurodegenerative disease | UMLS ID:C0524851 | DOID:1289 +BMGC_DS06828,BMG_DS024550,"UMLS ID:C0524909 | Hepatitis B, Chronic | chronic hepatitis B virus infection | MONDO:0005366 | MeSH ID:D019694" +BMGC_DS06829,BMG_DS024551,"UMLS ID:C0524910 | MONDO:0005354 | Hepatitis C, Chronic | chronic hepatitis C virus infection | MeSH ID:D019698" +BMGC_DS06830,BMG_DS024553,"Hepatitis, Chronic, Drug-Induced | DOID:2044 | drug-induced hepatitis | MeSH ID:D056487 | UMLS ID:C0524912 | Chemical and Drug Induced Liver Injury, Chronic" +BMGC_DS06831,BMG_DS024554,MeSH ID:D019873 | DOID:4371 | UMLS ID:C0524988 | Schnitzler syndrome | MONDO:0018304 | Schnitzler Syndrome +BMGC_DS06832,BMG_DS024555,mood disorder | MONDO:0005371 | UMLS ID:C0525045 | DOID:3324 +BMGC_DS06833,BMG_DS024558,Stress polycythaemia | SNOMEDCT ID:36874002 | Spurious polycythemia | Spurious polycythaemia | UMLS ID:C0541719 | Stress polycythemia | Stress polycythemia (disorder) | Emotional polycythemia | DOID:2838 | Emotional polycythaemia | stress polycythemia | SNOMEDCT ID:191371001 +BMGC_DS06834,BMG_DS024559,UMLS ID:C0541782 | atrial standstill | MONDO:0015281 +BMGC_DS06835,BMG_DS024560,muscular atrophy | MONDO:0004323 | UMLS ID:C0541794 +BMGC_DS06836,BMG_DS024561,carcinoma of duodenum | duodenum cancer | UMLS ID:C0541912 | DOID:10021 | MONDO:0021335 +BMGC_DS06837,BMG_DS024565,Non-Q wave myocardial infarction | SNOMEDCT ID:314207007 | Non-Q wave myocardial infarction (disorder) | UMLS ID:C0542269 +BMGC_DS06838,BMG_DS024573,MONDO:0019669 | UMLS ID:C0542428 | hypochondrogenesis +BMGC_DS06839,BMG_DS024575,renal agenesis | UMLS ID:C0542519 | MONDO:0018470 +BMGC_DS06840,BMG_DS024576,cerebral meningioma | DOID:6112 | MONDO:0003772 | UMLS ID:C0542564 +BMGC_DS06841,BMG_DS024577,glycogen storage disease IXb | UMLS ID:C0543514 | DOID:0111041 | MeSH ID:C563008 | MONDO:0009868 | OMIM ID:261750 | Glycogen Storage Disease IXB +BMGC_DS06842,BMG_DS024579,Glycinuria with or without Oxalate Urolithiasis | OMIM ID:138500 | UMLS ID:C0543541 | hyperglycinuria | MeSH ID:C563009 | MONDO:0007677 +BMGC_DS06843,BMG_DS024591,"MeSH ID:D000744 | UMLS ID:C0543663 | Anemia, Hemolytic, Autoimmune | Idiopathic Autoimmune Hemolytic Anemia" +BMGC_DS06844,BMG_DS024596,"MeSH ID:C563010 | OMIM ID:162830 | UMLS ID:C0543669 | MONDO:0008092 | Neutrophilia, Hereditary | DOID:0090120 | hereditary neutrophilia" +BMGC_DS06845,BMG_DS024600,"MeSH ID:D007713 | Klinefelter Syndrome | UMLS ID:C0543754 | Klinefelter Syndrome, Variants" +BMGC_DS06846,BMG_DS024602,UMLS ID:C0543800 | Idiopathic hypercalciuria | ICD10 ID:R82.994 +BMGC_DS06847,BMG_DS024607,Atherosclerotic ischaemic disease | Atherosclerotic occlusive disease (disorder) | Atherosclerotic ischemic disease | SNOMEDCT ID:129573006 | UMLS ID:C0543822 | Atherosclerotic occlusive disease +BMGC_DS06848,BMG_DS024609,"UMLS ID:C0543858 | MeSH ID:D016472 | Motor Neuron Disease | Motor Neuron Disease, Secondary" +BMGC_DS06849,BMG_DS024610,"OMIM ID:105500 | amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | MONDO:0007104 | amyotrophic lateral sclerosis-parkinsonism-dementia complex | MeSH ID:D000690 | UMLS ID:C0543859 | Amyotrophic Lateral Sclerosis, Guam Form | Amyotrophic Lateral Sclerosis | DOID:0111246" +BMGC_DS06850,BMG_DS024611,"Apraxia, oculomotor, Cogan type | ocular motor apraxia, Cogan type | MeSH ID:C537423 | OMIM ID:257550 | UMLS ID:C0543874 | MONDO:0009764" +BMGC_DS06851,BMG_DS024613,SNOMEDCT ID:723125008 | EE - epileptic encephalopathy | Epileptic encephalopathy (disorder) | Epileptic encephalopathy | UMLS ID:C0543888 | OMIM ID:MTHU028611 +BMGC_DS06852,BMG_DS024614,OMIM ID:605419 | MONDO:0011552 | UMLS ID:C0543918 | schizophrenia 10 +BMGC_DS06853,BMG_DS024615,Chandler's syndrome | Chandler's syndrome (disorder) | Chandler syndrome (disorder) | Chandler syndrome | DOID:11554 | MONDO:0020369 | SNOMEDCT ID:392481002 | UMLS ID:C0544008 | SNOMEDCT ID:404632009 +BMGC_DS06854,BMG_DS024618,DOID:0050138 | podoconiosis | MeSH ID:D004604 | UMLS ID:C0544766 | Elephantiasis Nostras Verrucosa | Elephantiasis +BMGC_DS06855,BMG_DS024621,"UMLS ID:C0544796 | Myositis, Proliferative | Myositis | MeSH ID:D009220" +BMGC_DS06856,BMG_DS024629,MONDO:0007900 | UMLS ID:C0544855 | nonsyndromic congenital nail disorder 3 | OMIM ID:151600 +BMGC_DS06857,BMG_DS024630,neurocutaneous melanocytosis | UMLS ID:C0544862 | OMIM ID:249400 | MONDO:0009578 +BMGC_DS06858,BMG_DS024633,Acrokeratoelastoidosis of Costa | MeSH ID:C535653 | OMIM ID:101850 | punctate palmoplantar keratoderma type III | UMLS ID:C0545044 | DOID:0060362 | MONDO:0007047 +BMGC_DS06859,BMG_DS024634,MONDO:0020561 | myxoid/round cell liposarcoma | mixed-type liposarcoma | UMLS ID:C0545074 | DOID:5709 +BMGC_DS06860,BMG_DS024635,UMLS ID:C0545080 | composite lymphoma | DOID:5820 | MONDO:0005710 +BMGC_DS06861,BMG_DS024638,"Myopathies, Nemaline | UMLS ID:C0546125 | childhood-onset nemaline myopathy | Nemaline Myopathy, Childhood Onset | MeSH ID:D017696 | MONDO:0015738" +BMGC_DS06862,BMG_DS024640,"Myopathies, Structural, Congenital | congenital fiber-type disproportion myopathy | UMLS ID:C0546264 | MONDO:0009711 | Congenital Fiber Type Disproportion | MeSH ID:D020914" +BMGC_DS06863,BMG_DS024643,DOID:4777 | Exudative glomerulonephritis | exudative glomerulonephritis | UMLS ID:C0546345 | SNOMEDCT ID:1162266005 | MONDO:0003133 | Exudative glomerulonephritis (disorder) +BMGC_DS06864,BMG_DS024651,OMIM ID:132800 | MONDO:0007566 | multiple self-healing squamous epithelioma | UMLS ID:C0546476 +BMGC_DS06865,BMG_DS024653,Tinea corporis | (Dermatophytosis of the body) or (herpes circinatus) or (tinea corporis) (disorder) | Dermatophytosis of the body | DOID:12179 | Herpes circinatus | (Dermatophytosis of the body) or (herpes circinatus) or (tinea corporis) | Dermatophytosis of the body (disorder) | tinea corporis | SNOMEDCT ID:266151007 | SNOMEDCT ID:186994008 | UMLS ID:C0546826 +BMGC_DS06866,BMG_DS024654,MONDO:0001487 | DOID:12298 | UMLS ID:C0546835 | intrahepatic bile duct cancer | intrahepatic gall duct cancer +BMGC_DS06867,BMG_DS024655,OMIM ID:133239 | esophageal cancer | MONDO:0007576 | UMLS ID:C0546837 +BMGC_DS06868,BMG_DS024656,SNOMEDCT ID:18191000 | MONDO:0017201 | UMLS ID:C0546878 | Spasmus nutans | Nodding spasm | Salaam spasm | Salaam spasm (finding) +BMGC_DS06869,BMG_DS024664,monilethrix | OMIM ID:252200 | DOID:0050472 | UMLS ID:C0546966 | MONDO:0008009 | OMIM ID:158000 +BMGC_DS06870,BMG_DS024665,"MONDO:0007501 | OMIM ID:128700 | preauricular fistulae, congenital | UMLS ID:C0546969" +BMGC_DS06871,BMG_DS024673,UMLS ID:C0546996 | Swimmer's itch | cercarial dermatitis | Cutaneous schistosomiasis (disorder) | Cercarial dermatitis | Cutaneous schistosomiasis | Schistosomal cercarial dermatitis | Clam digger's itch | MONDO:0001260 | Infection by cercariae of schistosoma | Clam-digger's itch | Infection by cercariae of schistosoma (disorder) | DOID:11302 | SNOMEDCT ID:86711009 | SNOMEDCT ID:187115002 | Swimmers' itch | Swamp itch | Schistosome dermatitis +BMGC_DS06872,BMG_DS024674,"UMLS ID:C0546999 | MONDO:0018500 | MeSH ID:D007815 | cutaneous larva migrans | Larva Migrans, Cutaneous | Larva Migrans" +BMGC_DS06873,BMG_DS024676,oligoastrocytoma | MONDO:0016702 | UMLS ID:C0547065 +BMGC_DS06874,BMG_DS024687,SNOMEDCT ID:238494006 | UMLS ID:C0549150 | SNOMEDCT ID:399205006 | SNOMEDCT ID:201187009 | Pseudofolliculitis barbae (disorder) | MONDO:0012865 | OMIM ID:612318 | Pseudofolliculitis barbae +BMGC_DS06875,BMG_DS024689,MeSH ID:D000073605 | Spotted Fever Group Rickettsiosis | MONDO:0001154 | DOID:10921 | UMLS ID:C0549160 | Siberian tick typhus | North Asian Tick Typhus +BMGC_DS06876,BMG_DS024698,SNOMEDCT ID:193914004 | Meibomitis | Meibomianitis | MeSH ID:D000092663 | Meibomianitis (disorder) | UMLS ID:C0549398 | SNOMEDCT ID:309779001 +BMGC_DS06877,BMG_DS024700,UMLS ID:C0549423 | MeSH ID:D006849 | MONDO:0001896 | Hydrocephalus | obstructive hydrocephalus | DOID:14159 | Obstructive Hydrocephalus +BMGC_DS06878,BMG_DS024701,UMLS ID:C0549463 | MONDO:0010627 | X-linked lymphoproliferative syndrome +BMGC_DS06879,BMG_DS024703,Borderline glaucoma | UMLS ID:C0549470 | borderline glaucoma | Preglaucoma (disorder) | Preglaucoma | DOID:9283 | SNOMEDCT ID:359633007 | Borderline glaucoma (disorder) | SNOMEDCT ID:47891005 +BMGC_DS06880,BMG_DS024704,UMLS ID:C0549471 | MONDO:0006883 | malignant superior sulcus neoplasm | Pancoast tumor | DOID:8007 +BMGC_DS06881,BMG_DS024706,thyroid gland carcinoma | DOID:3963 | MONDO:0015075 | UMLS ID:C0549473 +BMGC_DS06882,BMG_DS024707,obsolete incontinentia pigmenti achromians | UMLS ID:C0549567 | Pigmentation Disorders | MeSH ID:D010859 | MONDO:0006562 +BMGC_DS06883,BMG_DS024709,sexual dysfunction | DOID:1876 | UMLS ID:C0549622 +BMGC_DS06884,BMG_DS024712,UMLS ID:C0553548 | Polyarteritis Nodosa | Necrotizing Arteritis | MeSH ID:D010488 +BMGC_DS06885,BMG_DS024713,"UMLS ID:C0553558 | DOID:0050562 | MeSH ID:D013036 | Spasms, Infantile | Jackknife Seizures | West syndrome" +BMGC_DS06886,BMG_DS024719,UMLS ID:C0553580 | Ewing sarcoma | MONDO:0012817 | OMIM ID:612219 | DOID:3369 +BMGC_DS06887,BMG_DS024720,UMLS ID:C0553586 | Café-au-lait macules with pulmonary stenosis (disorder) | OMIM ID:193520 | Watson syndrome | SNOMEDCT ID:403820003 | Café-au-lait macules with pulmonary stenosis | MONDO:0008672 | Cafe-au-lait macules with pulmonary stenosis +BMGC_DS06888,BMG_DS024722,DOID:0050759;DOID:450 | myotonic syndrome | Myotonic Disorders | MeSH ID:D020967 | myotonic disease | myotonic dystrophy type 2 | UMLS ID:C0553604 | MONDO:0016120 +BMGC_DS06889,BMG_DS024726,Peritonsillar abscess (disorder) | Peritonsillar cellulitis | Peritonsillar abscess | SNOMEDCT ID:15033003 | UMLS ID:C0553656 | SNOMEDCT ID:102453009 | Acute peritonsillitis | Peritonsillar cellulitis (disorder) | Angina tonsillaris | Quinsy +BMGC_DS06890,BMG_DS024729,Hypofibrinogenemia (disorder) | Hypofibrinogenemia | Hypofibrinogenaemia | UMLS ID:C0553681 | SNOMEDCT ID:234457009 | OMIM ID:MTHU009690 +BMGC_DS06891,BMG_DS024732,UMLS ID:C0553707 | DOID:305 | carcinoma +BMGC_DS06892,BMG_DS024734,DOID:3151 | skin squamous cell carcinoma | UMLS ID:C0553723 | MONDO:0002529 +BMGC_DS06893,BMG_DS024735,Pseudogout (disorder) | MONDO:0001314 | Chondrocalcinosis articularis | CPPD - Calcium pyrophosphate deposition disease | CPDD - Calcium pyrophosphate deposition disease | UMLS ID:C0553730 | Chondrocalcinosis due to pyrophosphate crystals | SNOMEDCT ID:239832006 | SNOMEDCT ID:60782007 | Calcium pyrophosphate deposition disease | Idiopathic articular chondrocalcinosis | chondrocalcinosis | Calcium pyrophosphate deposition disease (disorder) | Pseudogout +BMGC_DS06894,BMG_DS024743,Olfaction Disorders | MeSH ID:D000857 | UMLS ID:C0553757 +BMGC_DS06895,BMG_DS024750,MeSH ID:D002547 | Cerebral Palsy | UMLS ID:C0553767 | Congenital Cerebral Palsy +BMGC_DS06896,BMG_DS024772,endomyocardial fibrosis | MONDO:0006746 | UMLS ID:C0553980 | DOID:12932 +BMGC_DS06897,BMG_DS024821,"DOID:0080745 | Polymyositis, Idiopathic | UMLS ID:C0554591 | polymyositis | MeSH ID:D017285 | Polymyositis" +BMGC_DS06898,BMG_DS024827,synovial plica syndrome | SNOMEDCT ID:268005002 | Synovial plica (disorder) | MONDO:0001468 | UMLS ID:C0554601 | Synovial plica +BMGC_DS06899,BMG_DS024834,UMLS ID:C0554628 | Streptococcal Infections | Group A Streptococcal Infections | MeSH ID:D013290 +BMGC_DS06900,BMG_DS024837,UMLS ID:C0554632 | WVI - Genital wart virus infection | HPV - Anogenital human papilloma virus infection | anogenital human papillomavirus infection | Anogenital human papillomavirus infection (disorder) | Genital wart virus infection | Anogenital human papillomavirus infection | anogenital venereal wart | MONDO:0005647 | Anogenital human papilloma virus infection | SNOMEDCT ID:302812006 | DOID:11168 +BMGC_DS06901,BMG_DS024846,UMLS ID:C0555191 | morpheaform basal cell carcinoma | DOID:4292 | MONDO:0002949 +BMGC_DS06902,BMG_DS024848,UMLS ID:C0555198 | malignant glioma | high grade glioma | MONDO:0100342 | DOID:3070 +BMGC_DS06903,BMG_DS024850,UMLS ID:C0555206 | OMIM ID:207950 | Chiari malformation type II | MONDO:0008816 +BMGC_DS06904,BMG_DS024851,UMLS ID:C0555214 | OMIM ID:219600 | MONDO:0009060 | cystic disease of lung +BMGC_DS06905,BMG_DS024859,Infection mouth | Oral infection (disorder) | Oral infection | UMLS ID:C0555971 | SNOMEDCT ID:275393007 +BMGC_DS06906,BMG_DS024884,Diarrhoea-bact.GIT inf. | Specific GIT infectious dis. | Gastroenteritis - bact. | SNOMEDCT ID:154268000 | Dysentery | SNOMEDCT ID:266173000 | Diarrhea-bact.GIT inf. | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) (disorder) | Bacterial gastroenteritis | UMLS ID:C0558348 | SNOMEDCT ID:274080003 | Bacterial gastroenteritis (disorder) | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhea]) | Specific gastrointestinal infectious disease +BMGC_DS06907,BMG_DS024901,SNOMEDCT ID:274401005 | Uric acid renal calculus &/or O/E | O/E: uric acid renal calculus | Uric acid nephrolithiasis | Uric acid renal calculus &/or O/E (finding) | SNOMEDCT ID:270032007 | Uric acid renal calculus | Uric acid renal calculus (disorder) | UMLS ID:C0558595 | SNOMEDCT ID:145274002 +BMGC_DS06908,BMG_DS024961,Gastrointestinal Diseases | Functional Gastrointestinal Disorders | UMLS ID:C0559031 | MeSH ID:D005767 +BMGC_DS06909,BMG_DS024971,adult spinal cord glioblastoma multiforme | adult spinal cord glioblastoma | UMLS ID:C0559185 | MONDO:0004363 | DOID:7806 +BMGC_DS06910,BMG_DS024992,DOID:4164 | UMLS ID:C0559458 | cerebral neuroblastoma | MONDO:0002900 +BMGC_DS06911,BMG_DS024994,adrenal neuroblastoma | DOID:5718 | UMLS ID:C0559460 | MONDO:0006076 | adrenal gland neuroblastoma +BMGC_DS06912,BMG_DS024995,Allergy to edible egg (finding) | Allergy to edible egg | SNOMEDCT ID:91930004 | Allergy to eggs | egg allergy | DOID:4377 | UMLS ID:C0559469 +BMGC_DS06913,BMG_DS024996,peanut allergy | DOID:4378 | SNOMEDCT ID:91935009 | UMLS ID:C0559470 | Allergy to peanut | Allergy to peanut (finding) | Allergy to peanuts +BMGC_DS06914,BMG_DS024997,MONDO:0010742 | pentalogy of Cantrell | SNOMEDCT ID:281587000 | OMIM ID:313850 | UMLS ID:C0559483 | Pentalogy of Cantrell | MeSH ID:D058502 | Pentalogy of Cantrell (disorder) +BMGC_DS06915,BMG_DS025021,DOID:1089 | Spinal cord syndrome | tethered spinal cord syndrome | Spinal cord syndrome (disorder) | UMLS ID:C0560648 | SNOMEDCT ID:282784007 +BMGC_DS06916,BMG_DS025045,UMLS ID:C0563211 | MONDO:0007108 | OMIM ID:105580 | DOID:6126 | anal canal carcinoma +BMGC_DS06917,BMG_DS025046,viral gastritis | UMLS ID:C0563238 | DOID:2327 | Viral gastritis | Viral gastritis (disorder) | SNOMEDCT ID:285344007 | MONDO:0002270 +BMGC_DS06918,BMG_DS025047,Acute infective exacerbation of chronic obstructive pulmonary disease (disorder) | UMLS ID:C0563269 | Acute infective exacerbation of chronic obstructive airways disease | SNOMEDCT ID:285381006 | Acute infective exacerbation of chronic obstructive pulmonary disease +BMGC_DS06919,BMG_DS025151,Maternal hypertension | Maternal hypertension (disorder) | SNOMEDCT ID:157038006 | SNOMEDCT ID:288250001 | UMLS ID:C0565599 +BMGC_DS06920,BMG_DS025163,Primary sclerosing cholangitis (disorder) | Primary sclerosing cholangitis | SNOMEDCT ID:197441003 | DOID:0060643 | MONDO:0013433 | OMIM ID:613806 | primary sclerosing cholangitis | PSC - Primary sclerosing cholangitis | SNOMEDCT ID:4032000 | UMLS ID:C0566602 | ICD10 ID:K83.01 +BMGC_DS06921,BMG_DS025206,Allergy to ketoprofen (finding) | DOID:0040060 | UMLS ID:C0570547 | Allergy to ketoprofen | ketoprofen photoallergic dermatitis | Ketoprofen allergy | SNOMEDCT ID:293621000 +BMGC_DS06922,BMG_DS025751,benzoic acid allergic contact dermatitis | UMLS ID:C0571102 | Benzoic acid allergy (disorder) | Benzoic acid allergy | SNOMEDCT ID:294186000 | DOID:0040057 +BMGC_DS06923,BMG_DS025980,DOID:0040074 | formaldehyde allergic contact dermatitis | Formaldehyde allergy | SNOMEDCT ID:294426006 | Allergy to formaldehyde | UMLS ID:C0571339 | Allergy to formaldehyde (finding) +BMGC_DS06924,BMG_DS026054,DOID:0040021 | UMLS ID:C0571444 | cephalosporin allergy +BMGC_DS06925,BMG_DS026063,DOID:0040023 | Allergy to cefaclor | Allergy to cefaclor (finding) | SNOMEDCT ID:294541008 | cefaclor allergy | Cefaclor allergy | UMLS ID:C0571453 +BMGC_DS06926,BMG_DS026064,Allergy to cefuroxime | cefuroxime allergy | Cefuroxime allergy | DOID:0040025 | SNOMEDCT ID:294542001 | Allergy to cefuroxime (finding) | UMLS ID:C0571454 +BMGC_DS06927,BMG_DS026067,cefotaxime allergy | Allergy to cefotaxime | SNOMEDCT ID:294545004 | Allergy to cefotaxime (finding) | UMLS ID:C0571457 | DOID:0040020 | Cefotaxime allergy +BMGC_DS06928,BMG_DS026068,UMLS ID:C0571458 | Allergy to ceftazidime (finding) | ceftazidime allergy | Allergy to ceftazidime | Ceftazidime allergy | DOID:0040024 | SNOMEDCT ID:294546003 +BMGC_DS06929,BMG_DS026070,SNOMEDCT ID:294548002 | cefixime allergy | Cefixime allergy | UMLS ID:C0571460 | Allergy to cefixime (finding) | DOID:0040030 | Allergy to cefixime +BMGC_DS06930,BMG_DS026073,Allergy to ceftriaxone (finding) | Allergy to ceftriaxone | DOID:0040005 | SNOMEDCT ID:294551009 | Ceftriaxone allergy | UMLS ID:C0571463 | ceftriaxone allergy +BMGC_DS06931,BMG_DS026621,SNOMEDCT ID:124239003 | UMLS ID:C0574080 | DOID:0050799 | OMIM ID:612736 | guanidinoacetate methyltransferase deficiency | MONDO:0012999 | MeSH ID:C537622 | Deficiency of guanidinoacetate methyltransferase | Guanidinoacetate methyltransferase deficiency | Deficiency of guanidinoacetate methyltransferase (disorder) +BMGC_DS06932,BMG_DS026622,Barth syndrome | MONDO:0010543 | OMIM ID:302060 | UMLS ID:C0574083 | 3-Methylglutaconic aciduria type 2 (disorder) | DOID:0050476 | 3-Methylglutaconic aciduria type 2 | SNOMEDCT ID:297231002 +BMGC_DS06933,BMG_DS026623,OMIM ID:258501 | SNOMEDCT ID:297232009 | UMLS ID:C0574084 | Costeff syndrome | 3-methylglutaconic aciduria type 3 | MONDO:0009787 | 3-Methylglutaconic aciduria type 3 (disorder) | 3-Methylglutaconic aciduria type 3 +BMGC_DS06934,BMG_DS026625,Generalised uridine diphosphate galactose-4-epimerase deficiency | UMLS ID:C0574089 | MONDO:0017692 | Generalized uridine diphosphate galactose-4-epimerase deficiency | Generalized uridine diphosphate galactose-4-epimerase deficiency (disorder) | generalized galactose epimerase deficiency | SNOMEDCT ID:297237003 +BMGC_DS06935,BMG_DS026626,erythrocyte galactose epimerase deficiency | UMLS ID:C0574090 | Erythrocyte uridine diphosphate galactose-4-epimerase deficiency | MONDO:0017691 | SNOMEDCT ID:297238008 | Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (disorder) +BMGC_DS06936,BMG_DS026631,MONDO:0018459 | glycerol kinase deficiency | DOID:0060363 | isolated glycerol kinase deficiency | Glycerol kinase deficiency - isolated | SNOMEDCT ID:297256008 | UMLS ID:C0574108 | Glycerol kinase deficiency - isolated (disorder) +BMGC_DS06937,BMG_DS026647,"UMLS ID:C0574908 | Lesion, Superficial Radial Nerve | Radial Neuropathy | MeSH ID:D020425" +BMGC_DS06938,BMG_DS026657,Sacroiliitis (disorder) | MeSH ID:D058566 | SNOMEDCT ID:55146009 | SNOMEDCT ID:274136001 | Sacroiliac joint inflamed | SNOMEDCT ID:156620004 | OMIM ID:MTHU021208 | Sacroiliitis | Inflammation of sacroiliac joint | UMLS ID:C0574960 | Inflammation of sacroiliac joint (finding) +BMGC_DS06939,BMG_DS026660,Spastic quadriparesis (disorder) | UMLS ID:C0575059 | OMIM ID:MTHU004059 | Spastic quadriparesis | SNOMEDCT ID:298282001 | Spastic tetraparesis +BMGC_DS06940,BMG_DS026666,MONDO:0008561 | UMLS ID:C0575897 | OMIM ID:188100 | thumb deformity +BMGC_DS06941,BMG_DS026673,MeSH ID:D021184 | UMLS ID:C0577620 | DOID:4379 | obsolete nut allergic reaction | MONDO:0006872 | nut allergy | Nut Hypersensitivity +BMGC_DS06942,BMG_DS026679,latex allergy | UMLS ID:C0577628 | MONDO:0000807 +BMGC_DS06943,BMG_DS026682,Carotid Atherosclerosis | UMLS ID:C0577631 | MeSH ID:D002340 | Carotid Artery Diseases +BMGC_DS06944,BMG_DS026693,UMLS ID:C0577690 | Proteus septicemia (disorder) | Proteus septicemia | Proteus septicaemia | SNOMEDCT ID:300986008 +BMGC_DS06945,BMG_DS026694,ureter transitional cell carcinoma | MONDO:0004030 | DOID:6888 | UMLS ID:C0577692 +BMGC_DS06946,BMG_DS026698,Escherichia coli urinary tract infection | Urinary tract infection caused by Escherichia coli | Urinary tract infection caused by Escherichia coli (disorder) | SNOMEDCT ID:301011002 | UMLS ID:C0577708 +BMGC_DS06947,BMG_DS026699,Proteus urinary tract infection (disorder) | UMLS ID:C0577709 | SNOMEDCT ID:301012009 | Proteus UTI (urinary tract infection) | Proteus urinary tract infection +BMGC_DS06948,BMG_DS026730,UMLS ID:C0578661 | Gonococcal seminal vesiculitis | DOID:10400;DOID:0050004 | MONDO:0001027 | SNOMEDCT ID:301990003 | seminal vesicle acute gonorrhea | Gonococcal seminal vesiculitis (disorder) | gonococcal seminal vesiculitis +BMGC_DS06949,BMG_DS026738,MONDO:0044212 | UMLS ID:C0578870 | DOID:0080747 | chronic urticaria | Chronic Spontaneous Urticaria | chronic idiopathic urticaria | Chronic Urticaria | MeSH ID:D000080223 +BMGC_DS06950,BMG_DS026743,UMLS ID:C0578878 | Inflammation of large intestine | SNOMEDCT ID:302168000 | Inflammation of large intestine (disorder) +BMGC_DS06951,BMG_DS026784,Recurrent sinusitis | SNOMEDCT ID:195788001 | OMIM ID:MTHU008465 | Recurrent sinusitis (disorder) | UMLS ID:C0581354 +BMGC_DS06952,BMG_DS026802,Decompensated cardiac failure (disorder) | SNOMEDCT ID:195111005 | Decompensated cardiac failure | UMLS ID:C0581377 +BMGC_DS06953,BMG_DS026804,SNOMEDCT ID:195708003 | UMLS ID:C0581381 | Recurrent upper respiratory tract infection | Recurrent upper respiratory tract infection (disorder) +BMGC_DS06954,BMG_DS026808,Exacerbation of multiple sclerosis (disorder) | SNOMEDCT ID:192929006 | Multiple sclerosis (MS) exacerbation | Exacerbation of multiple sclerosis | UMLS ID:C0581392 +BMGC_DS06955,BMG_DS026809,MeSH ID:D003638 | UMLS ID:C0581883 | Complete Hearing Loss | Deafness +BMGC_DS06956,BMG_DS026860,retroperitoneal sarcoma | DOID:12341 | UMLS ID:C0585129 | MONDO:0001501 +BMGC_DS06957,BMG_DS026863,SNOMEDCT ID:307227006 | Gastric retention | UMLS ID:C0585136 | Gastric retention (disorder) +BMGC_DS06958,BMG_DS026874,alpha-thalassemia-myelodysplastic syndrome | MONDO:0010328 | DOID:0112125 | UMLS ID:C0585216 | OMIM ID:300448 | alpha-thalassemia myelodysplasia syndrome +BMGC_DS06959,BMG_DS026885,Hypoglossal Nerve Palsy | Hypoglossal Nerve Diseases | MeSH ID:D020437 | UMLS ID:C0585265 +BMGC_DS06960,BMG_DS026889,MONDO:0004958 | oral cavity squamous cell carcinoma | UMLS ID:C0585362 +BMGC_DS06961,BMG_DS026894,UMLS ID:C0585442 | OMIM ID:259500 | MONDO:0002629 | DOID:3376 | bone osteosarcoma +BMGC_DS06962,BMG_DS026895,DOID:3368 | Ewing sarcoma of bone | MONDO:0002625 | UMLS ID:C0585474 +BMGC_DS06963,BMG_DS026896,DOID:5376 | UMLS ID:C0585475 | skin pilomatrix carcinoma | MONDO:0003414 +BMGC_DS06964,BMG_DS026917,epiglottis cancer | DOID:8133 | UMLS ID:C0585946 +BMGC_DS06965,BMG_DS026926,UMLS ID:C0586323 | MeSH ID:D020270 | Alcohol Withdrawal Seizures +BMGC_DS06966,BMG_DS026958,Varicella Zoster Virus Infection | UMLS ID:C0586989 | MONDO:0005608 | MeSH ID:D000073618 | varicella zoster infection +BMGC_DS06967,BMG_DS026972,UMLS ID:C0587248 | DOID:0050469 | SNOMEDCT ID:309776008 | Costello syndrome (disorder) | MONDO:0009026 | SNOMEDCT ID:205803001 | Costello syndrome | OMIM ID:218040 +BMGC_DS06968,BMG_DS026975,"tenosynovial giant cell tumor, localized type | nodular tenosynovitis | DOID:2701 | UMLS ID:C0588125 | MONDO:0002399" +BMGC_DS06969,BMG_DS026982,Sepsis due to enterococcus | UMLS ID:C0588233 | Septicaemia caused by enterococcus | Septicemia caused by enterococcus | SNOMEDCT ID:186383002 | Septicemia caused by enterococcus (disorder) | Septicemia due to enterococcus | SNOMEDCT ID:310669007 | Septicaemia due to enterococcus (disorder) | Sepsis caused by enterococcus | Septicaemia due to enterococcus +BMGC_DS06970,BMG_DS027011,Atypical absence seizure (finding) | UMLS ID:C0595948 | Atypical absence seizure | SNOMEDCT ID:23374007 +BMGC_DS06971,BMG_DS027020,UMLS ID:C0595989 | laryngeal carcinoma | DOID:2600 | MONDO:0002358 +BMGC_DS06972,BMG_DS027022,idiopathic scoliosis | UMLS ID:C0595995 | MONDO:0000726 +BMGC_DS06973,BMG_DS027024,UMLS ID:C0596046 | MONDO:0021237 | DOID:5719 | adrenal medulla neoplasm | adrenal medulla cancer +BMGC_DS06974,BMG_DS027025,MONDO:0005582 | binge eating disorder | UMLS ID:C0596170 +BMGC_DS06975,BMG_DS027027,UMLS ID:C0596298 | MeSH ID:D002561 | Cerebrovascular Disorders | Cerebrovascular Occlusion +BMGC_DS06976,BMG_DS027030,UMLS ID:C0596869 | lymph node cancer | DOID:10619 | lymph node neoplasm | MONDO:0024339 +BMGC_DS06977,BMG_DS027036,UMLS ID:C0598221 | SNOMEDCT ID:439274008 | hereditary thrombophilia due to congenital protein C deficiency | Hereditary protein C deficiency | MONDO:0019145 | Hereditary protein C deficiency (disorder) +BMGC_DS06978,BMG_DS027037,OMIM ID:242500 | autosomal recessive congenital ichthyosis 4B | MeSH ID:C538424 | MONDO:0009443 | Harlequin type ichthyosis | UMLS ID:C0598226 +BMGC_DS06979,BMG_DS027039,OMIM ID:MTHU070462 | SNOMEDCT ID:419503008 | Hyperhomocysteinemia | Hyperhomocysteinemia (disorder) | DOID:9279 | hyperhomocysteinemia | MONDO:0004743 | MeSH ID:D020138 | UMLS ID:C0598608 | OMIM ID:603174 +BMGC_DS06980,BMG_DS027041,UMLS ID:C0598790 | lung sarcoma | DOID:2784 | MONDO:0002426 +BMGC_DS06981,BMG_DS027042,lymphoid neoplasm | lymphoma | MONDO:0005157 | UMLS ID:C0598798 | DOID:0060058 +BMGC_DS06982,BMG_DS027044,Hyperornithinemia | Hyperornithinemia (disorder) | OMIM ID:MTHU023295 | UMLS ID:C0599035 | SNOMEDCT ID:33985005 | Hyperornithinaemia +BMGC_DS06983,BMG_DS027047,microphthalmia with limb anomalies | OMIM ID:206920 | UMLS ID:C0599973 | MONDO:0008800 +BMGC_DS06984,BMG_DS027048,Chronic interstitial cystitis | chronic interstitial cystitis | IC - Interstitial cystitis | DOID:1678 | Chronic interstitial cystitis (disorder) | Painful bladder syndrome | SNOMEDCT ID:44497007 | SNOMEDCT ID:197834003 | UMLS ID:C0600040 | PBS - Painful bladder syndrome | Interstitial cystitis +BMGC_DS06985,BMG_DS027049,Infective cystitis (disorder) | Infection of bladder | SNOMEDCT ID:236620008 | Infective cystitis | UMLS ID:C0600041 +BMGC_DS06986,BMG_DS027051,DOID:3016 | breast malignant phyllodes tumor | MONDO:0037003 | malignant phyllodes tumor | UMLS ID:C0600066 +BMGC_DS06987,BMG_DS027052,DOID:4939 | MONDO:0006481 | UMLS ID:C0600079 | ureter carcinoma +BMGC_DS06988,BMG_DS027057,prostate carcinoma | DOID:10286 | UMLS ID:C0600139 | MONDO:0005159 +BMGC_DS06989,BMG_DS027058,External Carotid Artery Diseases | UMLS ID:C0600178 | MeSH ID:D002340 | Carotid Artery Diseases +BMGC_DS06990,BMG_DS027059,UMLS ID:C0600228 | cardiac arrest | DOID:0060319 +BMGC_DS06991,BMG_DS027060,"UMLS ID:C0600260 | DOID:2320 | MeSH ID:D008173 | Lung Diseases, Obstructive | obstructive lung disease" +BMGC_DS06992,BMG_DS027063,Periodontosis | ICD10 ID:K05.4 | Aggressive Periodontitis | MeSH ID:D010520 | DOID:9893 | ICD11 ID:DA0C.2 | UMLS ID:C0600298 | periodontosis +BMGC_DS06993,BMG_DS027064,"DOID:14115 | MONDO:0001881 | UMLS ID:C0600327 | toxic shock syndrome | MeSH ID:D012772 | Toxic Shock Syndrome | Shock, Septic" +BMGC_DS06994,BMG_DS027065,SNOMEDCT ID:25147002 | Sneddon-Wilkinson disease | Sneddon-Wilkinson syndrome | MONDO:0006614 | Subcorneal pustular dermatosis | DOID:8508 | subcorneal pustular dermatosis | UMLS ID:C0600336 | Subcorneal pustular dermatosis (disorder) +BMGC_DS06995,BMG_DS027066,"MeSH ID:D015140 | UMLS ID:C0600359 | Arteriosclerotic Dementia | Dementia, Vascular" +BMGC_DS06996,BMG_DS027067,UMLS ID:C0600427 | DOID:9975 | MONDO:0005186 | cocaine dependence +BMGC_DS06997,BMG_DS027068,UMLS ID:C0600433 | MeSH ID:D020016 | Activated Protein C Resistance +BMGC_DS06998,BMG_DS027069,MeSH ID:D020065 | Hepatopulmonary Syndrome | MONDO:0004694 | UMLS ID:C0600452 | DOID:900 | hepatopulmonary syndrome +BMGC_DS06999,BMG_DS027070,vascular hemostatic disease | DOID:484 | MONDO:0003159 | UMLS ID:C0600502 | MeSH ID:D020141 | Vascular Hemostatic Disorders | Hemostatic Disorders +BMGC_DS07000,BMG_DS027072,UMLS ID:C0600518 | MONDO:0810000 | choroidal neovascularization +BMGC_DS07001,BMG_DS027074,vulva carcinoma | DOID:1294 | vulvar carcinoma | UMLS ID:C0677055 | MONDO:0005215 +BMGC_DS07002,BMG_DS027076,Radial Tunnel Syndrome | Radial Neuropathy | MeSH ID:D020425 | UMLS ID:C0677499 +BMGC_DS07003,BMG_DS027077,"MeSH ID:D018500 | Diabetes Insipidus, Nephrogenic | UMLS ID:C0677501 | Congenital Nephrogenic Diabetes Insipidus" +BMGC_DS07004,BMG_DS027079,OMIM ID:140300 | MONDO:0007699 | Hashimoto thyroiditis | MeSH ID:D050031 | Hashimoto Disease | UMLS ID:C0677607 +BMGC_DS07005,BMG_DS027081,"UMLS ID:C0677659 | Esophageal reflux with esophagitis | Gastro-esophageal reflux disease with esophagitis | Reflux oesophagitis | Gastro-oesophageal reflux disease with oesophagitis | Oesophageal reflux with oesophagitis | Gastroesophageal reflux disease with esophagitis (disorder) | ICD11 ID:DA22.Z | Reflux esophagitis | SNOMEDCT ID:266433003 | Gastroesophageal reflux disease with oesophagitis | Peptic oesophagitis | Gastrooesophageal reflux disease, unspecified | Gastroesophageal reflux disease with esophagitis | ICD10 ID:K21.0 | Peptic esophagitis" +BMGC_DS07006,BMG_DS027082,hereditary breast ovarian cancer syndrome | DOID:5683 | MONDO:0003582 | UMLS ID:C0677776 +BMGC_DS07007,BMG_DS027083,MONDO:0003321 | UMLS ID:C0677779 | DOID:5183 | hereditary Wilms tumor | hereditary Wilms' tumor +BMGC_DS07008,BMG_DS027084,MONDO:0002911 | UMLS ID:C0677865 | brain stem glioma | DOID:4202 +BMGC_DS07009,BMG_DS027085,UMLS ID:C0677866 | brainstem neoplasm | DOID:4203 | MONDO:0021228 | brain stem cancer +BMGC_DS07010,BMG_DS027086,UMLS ID:C0677886 | DOID:4001 | ovarian carcinoma +BMGC_DS07011,BMG_DS027091,"Hyperlipidemia, group A (disorder) | Hyperlipidemia, group A | Hyperlipidaemia, group A | UMLS ID:C0678189 | SNOMEDCT ID:190774002" +BMGC_DS07012,BMG_DS027092,MeSH ID:D003424 | Crohn Disease | UMLS ID:C0678201 | Terminal Ileitis +BMGC_DS07013,BMG_DS027093,Crohn's disease (& [regional enteritis]) (disorder) | OMIM ID:MTHU054371 | Crohn's disease (& [regional enteritis]) | UMLS ID:C0678202 | Regional enteritis (disorder) | Regional enteritis - Crohn | SNOMEDCT ID:278522007 | Crohn's disease | Crohn's regional enteritis | SNOMEDCT ID:266517004 | SNOMEDCT ID:155760003 | Enteritis - regional | Regional enteritis +BMGC_DS07014,BMG_DS027094,complete hydatidiform mole | UMLS ID:C0678213 | MONDO:0016785 +BMGC_DS07015,BMG_DS027095,breast carcinoma | MONDO:0004989 | DOID:3459 | UMLS ID:C0678222 +BMGC_DS07016,BMG_DS027099,"MONDO:0000368 | MeSH ID:D000092225 | UMLS ID:C0679362 | extrapulmonary tuberculosis | Tuberculosis, Extrapulmonary" +BMGC_DS07017,BMG_DS027104,UMLS ID:C0683416 | DOID:11038 | depersonalization disorder | MONDO:0001186 +BMGC_DS07018,BMG_DS027105,UMLS ID:C0684249 | DOID:3905 | lung carcinoma | MONDO:0005138 +BMGC_DS07019,BMG_DS027106,Bacterial septicaemia | UMLS ID:C0684256 | Bacterial sepsis (disorder) | Bacterial sepsis | Bacterial septicemia | SNOMEDCT ID:10001005 +BMGC_DS07020,BMG_DS027107,"Hemophilia, NOS | MONDO:0018660 | Haemophilia | hemophilia | SNOMEDCT ID:90935002 | Hemophilia (disorder) | UMLS ID:C0684275 | Hemophilia" +BMGC_DS07021,BMG_DS027109,UMLS ID:C0684333 | tongue cancer | DOID:8649 +BMGC_DS07022,BMG_DS027110,peripheral primitive neuroectodermal tumor | MONDO:0018271 | Ewing sarcoma | UMLS ID:C0684337 | DOID:3369 +BMGC_DS07023,BMG_DS027118,DOID:4045 | MONDO:0005864 | muscle cancer | UMLS ID:C0684743 +BMGC_DS07024,BMG_DS027148,DOID:13081 | MONDO:0006557 | hemangioma of subcutaneous tissue | UMLS ID:C0685200 +BMGC_DS07025,BMG_DS027149,hemangioma of spleen | UMLS ID:C0685201 | splenic hemangioma | DOID:256 | MONDO:0002343 +BMGC_DS07026,BMG_DS027163,UMLS ID:C0685787 | MONDO:0015411 | facial cleft +BMGC_DS07027,BMG_DS027164,UMLS ID:C0685837 | 46 XX gonadal dysgenesis | MONDO:0009299 +BMGC_DS07028,BMG_DS027165,UMLS ID:C0685838 | MONDO:0017312 | MeSH ID:C537286 | Gonadal dysgenesis XX type deafness | Perrault syndrome +BMGC_DS07029,BMG_DS027166,familial isolated congenital asplenia | MONDO:0010066 | UMLS ID:C0685889 | OMIM ID:271400 +BMGC_DS07030,BMG_DS027194,DOID:3119 | gastrointestinal system cancer | UMLS ID:C0685938 +BMGC_DS07031,BMG_DS027206,Tardive Dyskinesia | MONDO:0010096 | UMLS ID:C0686347 | tardive dyskinesia | OMIM ID:272620 | MeSH ID:D000071057 +BMGC_DS07032,BMG_DS027211,"DOID:11724 | MONDO:0016971 | Muscular Dystrophies, Limb-Girdle | limb-girdle muscular dystrophy | MeSH ID:D049288 | UMLS ID:C0686353" +BMGC_DS07033,BMG_DS027221,SNOMEDCT ID:92819001 | Marginal blepharitis (disorder) | Blepharitis (disorder) | Blepharitis | SNOMEDCT ID:41446000 | Marginal blepharitis | Ciliary blepharitis | Inflammation of lid margin | UMLS ID:C0686366 +BMGC_DS07034,BMG_DS027230,malignant oculomotor nerve tumor | UMLS ID:C0686417 | oculomotor nerve cancer | MONDO:0002434 | DOID:2816 +BMGC_DS07035,BMG_DS027253,OMIM ID:MTHU000621 | nephronophthisis | SNOMEDCT ID:204958008 | DOID:12712 | ICD10 ID:Q61.5 | MONDO:0019005 | UMLS ID:C0687120 | Familial juvenile nephronophthisis | Nephronophthisis (disorder) | Autosomal dominant tubulointerstitial disease | Autosomal recessive medullary cystic disease | Familial juvenile medullary cystic kidney disease | Nephronophthisis | ICD11 ID:GB82 +BMGC_DS07036,BMG_DS027254,skin hemangioma | MONDO:0003110 | DOID:471 | UMLS ID:C0687140 +BMGC_DS07037,BMG_DS027255,SNOMEDCT ID:367101009 | UMLS ID:C0687148 | Mineral deficiency (disorder) | Mineral deficiency | SNOMEDCT ID:111379007 +BMGC_DS07038,BMG_DS027256,DOID:1540 | OMIM ID:608266 | parathyroid gland carcinoma | parathyroid carcinoma | MONDO:0012004 | UMLS ID:C0687150 +BMGC_DS07039,BMG_DS027257,"Acrocephalopolysyndactyly (disorder) | Acrocephalopolysyndactyly | UMLS ID:C0687154 | Warburg micro syndrome 2 | (Acrocephalo (& [poly]) syndactyly) or (Apert's syndrome) (disorder) | Multiple developmental anomalies or syndromes, unspecified | Warburg micro syndrome 3 | MONDO:0000078 | DOID:0110716;DOID:0110719;DOID:0110718;DOID:0110717 | SNOMEDCT ID:205260006 | ICD11 ID:LD2Z | Apert's syndrome | Acrocephalosyndactyly | acrocephalopolysyndactyly | Warburg micro syndrome 4 | SNOMEDCT ID:205257004 | ICD10 ID:Q87.0 | Warburg micro syndrome 1 | (Acrocephalo (& [poly]) syndactyly) or (Apert's syndrome)" +BMGC_DS07040,BMG_DS027259,"Diabetes Insipidus, Neurogenic | central diabetes insipidus | MeSH ID:D020790 | neurohypophyseal diabetes insipidus | UMLS ID:C0687720 | MONDO:0015790 | DOID:12388 | Central Diabetes Insipidus" +BMGC_DS07041,BMG_DS027260,Spiny prickle cells present | Abetalipoproteinemia | Abetalipoproteinaemia | SNOMEDCT ID:250249008 | UMLS ID:C0687751 | Acanthocytosis (finding) | Acanthocytosis | OMIM ID:MTHU014873 | Abetalipoproteinemia (disorder) | SNOMEDCT ID:83123000 +BMGC_DS07042,BMG_DS027288,MeSH ID:D000098968 | Community-Acquired Pneumonia | UMLS ID:C0694549 +BMGC_DS07043,BMG_DS027291,Disseminated atypical mycobacterial infection | UMLS ID:C0694566 | SNOMEDCT ID:240413000 | Disseminated atypical mycobacterial infection (disorder) +BMGC_DS07044,BMG_DS027292,UMLS ID:C0695242 | MeSH ID:D055496 | neurogenic bowel | DOID:13419 | Neurogenic Bowel | MONDO:0006868 +BMGC_DS07045,BMG_DS027293,MeSH ID:D002819 | Hereditary Chorea | UMLS ID:C0699731 | Chorea +BMGC_DS07046,BMG_DS027295,"Hereditary Sensory and Autonomic Neuropathies | Sensory Neuropathy, Hereditary | DOID:0050548;DOID:2491 | MeSH ID:D009477 | UMLS ID:C0699739 | sensory peripheral neuropathy | hereditary sensory neuropathy" +BMGC_DS07047,BMG_DS027296,Benign congenital myopathy (disorder) | SNOMEDCT ID:193222002 | Becker muscular dystrophy | Congenital hereditary muscular dystrophy (disorder) | SNOMEDCT ID:111501005 | Congenital hereditary muscular dystrophy | Benign congenital myopathy | DOID:9883 | UMLS ID:C0699741 +BMGC_DS07048,BMG_DS027297,SNOMEDCT ID:240059009 | UMLS ID:C0699743 | MONDO:0019950 | congenital muscular dystrophy | Congenital muscular dystrophy (disorder) | Congenital muscular dystrophy +BMGC_DS07049,BMG_DS027298,Infection of ear | SNOMEDCT ID:129127001 | UMLS ID:C0699744 | ear infection | Ear infection | Infection of ear (disorder) | MONDO:0021666 +BMGC_DS07050,BMG_DS027299,DOID:1520 | MONDO:0002032 | colon carcinoma | UMLS ID:C0699790 +BMGC_DS07051,BMG_DS027300,DOID:5517 | gastric carcinoma | stomach carcinoma | MONDO:0004950 | UMLS ID:C0699791 +BMGC_DS07052,BMG_DS027301,MONDO:0018546 | serotonin syndrome | UMLS ID:C0699828 +BMGC_DS07053,BMG_DS027304,UMLS ID:C0699885 | DOID:4007 | bladder carcinoma | MONDO:0004986 | urinary bladder carcinoma +BMGC_DS07054,BMG_DS027305,female reproductive organ cancer | UMLS ID:C0699889 | MONDO:0001416 | DOID:120 +BMGC_DS07055,BMG_DS027307,MONDO:0002656 | DOID:3451 | skin carcinoma | UMLS ID:C0699893 +BMGC_DS07056,BMG_DS027309,UMLS ID:C0700053 | SNOMEDCT ID:83497002 | Idiopathic hypertrophic subaortic stenosis | SNOMEDCT ID:360465008 | Idiopathic hypertrophic subaortic stenosis (disorder) +BMGC_DS07057,BMG_DS027311,DOID:734 | UMLS ID:C0700101 | urethra cancer +BMGC_DS07058,BMG_DS027312,MONDO:0024884 | UMLS ID:C0700110 | bone carcinoma | metastatic carcinoma in the bone | DOID:2762 +BMGC_DS07059,BMG_DS027317,Viral hepatitis type B | Viral hepatitis B without mention of hepatic coma | SH - Serum hepatitis | SNOMEDCT ID:66071002 | Viral hepatitis type B (disorder) | UMLS ID:C0700211 | Hepatitis B infection | Type B viral hepatitis | Hepatitis B | Serum hepatitis +BMGC_DS07060,BMG_DS027318,SNOMEDCT ID:373435003 | SNOMEDCT ID:14009004 | Pulmonary Mycobacterium avium complex infection | Battey disease | Pulmonary Mycobacterium avium-intracellulare infection | Pulmonary Mycobacterium avium complex infection (disorder) | UMLS ID:C0700226 | SNOMEDCT ID:186342000 | Pulmonary mycobacterium intracellulare infection | Battey disease (disorder) | Pulmonary mycobacterium avium-intracellulare infection +BMGC_DS07061,BMG_DS027319,brachial plexus neuropathy | DOID:3690 | UMLS ID:C0700251 | Brachial Plexus Neuropathies | MONDO:0006683 | MeSH ID:D020516 +BMGC_DS07062,BMG_DS027320,OMIM ID:140700 | MeSH ID:C563030 | UMLS ID:C0700299 | MONDO:0007705 | Heinz Body Anemias | Heinz body anemia +BMGC_DS07063,BMG_DS027321,Thibierge-Weissenbach syndrome | Systemic sclerosis | SNOMEDCT ID:89155008 | Systemic scleroderma | SS - Systemic sclerosis | UMLS ID:C0700318 | Systemic sclerosis (disorder) +BMGC_DS07064,BMG_DS027323,"MeSH ID:D002181 | DOID:2272 | UMLS ID:C0700345 | MONDO:0006014 | vulvovaginal candidiasis | Candidiasis, Vulvovaginal" +BMGC_DS07065,BMG_DS027325,"UMLS ID:C0700367 | MONDO:0016715 | embryonal tumor with multilayered rosettes, C19MC-altered | DOID:0080903 | ependymoblastoma" +BMGC_DS07066,BMG_DS027327,MeSH ID:D008881 | UMLS ID:C0700438 | Migraine Disorders | Sick Headaches +BMGC_DS07067,BMG_DS027329,congenital nystagmus | DOID:9649 | UMLS ID:C0700501 | MONDO:0005712 +BMGC_DS07068,BMG_DS027332,Chronic peptic ulcer | Chronic peptic ulcer (disorder) | UMLS ID:C0700509 | SNOMEDCT ID:128287004 +BMGC_DS07069,BMG_DS027335,acquired hypertrophic pyloric stenosis | MONDO:0001878 | DOID:14099 | UMLS ID:C0700588 | acquired gastric outlet stenosis +BMGC_DS07070,BMG_DS027336,"Nerve root disorder | Radiculopathy (disorder) | ICD11 ID:8B93.Z | Nerve root disorder (disorder) | Radiculopathy | UMLS ID:C0700594 | Radiculopathy, unspecified | MONDO:0002959 | SNOMEDCT ID:394640000 | MeSH ID:D011843 | radiculopathy | ICD10 ID:M54.1 | DOID:4306 | SNOMEDCT ID:72274001" +BMGC_DS07071,BMG_DS027337,Spinal Muscular Atrophies of Childhood | DOID:0060160 | UMLS ID:C0700595 | childhood spinal muscular atrophy | MeSH ID:D014897 +BMGC_DS07072,BMG_DS027339,"Strudwick syndrome | UMLS ID:C0700635 | SNOMEDCT ID:702350003 | MONDO:0008476 | SEMD - spondyloepimetaphyseal dysplasia, Strudwick type | Spondyloepimetaphyseal dysplasia, Strudwick type | Spondyloepimetaphyseal dysplasia, Strudwick type (disorder) | MeSH ID:C537501 | OMIM ID:184250 | Dappled metaphysis syndrome | spondyloepimetaphyseal dysplasia, Strudwick type" +BMGC_DS07073,BMG_DS027342,DOID:12638 | MONDO:0100239 | hypertrophic pyloric stenosis | inherited hypertrophic pyloric stenosis | UMLS ID:C0700639 +BMGC_DS07074,BMG_DS027350,Adrenogenital disorder (disorder) | Androgenital syndrome | SNOMEDCT ID:267395000 | UMLS ID:C0701163 | Adrenogenital syndrome | DOID:0050811 | SNOMEDCT ID:154706003 | Adrenogenital disorder | congenital adrenal hyperplasia +BMGC_DS07075,BMG_DS027353,Calculus of common bile duct | SNOMEDCT ID:197397004 | Bile duct calculus (& [without mention of cholecystitis]) | SNOMEDCT ID:49910001 | Choledocholithiasis | MONDO:0006699 | choledocholithiasis | MeSH ID:D042883 | Bile duct calculus without mention of cholecystitis | UMLS ID:C0701818 | Calculus of common bile duct (disorder) | Bile duct calculus (& [without mention of cholecystitis]) (disorder) | DOID:11755 +BMGC_DS07076,BMG_DS027355,Disorder of thyrocalcitonin secretion | UMLS ID:C0701822 | Disorder of thyrocalcitonin secretion (disorder) | MONDO:0001525 | DOID:12424 | SNOMEDCT ID:190303007 | thyrocalcitonin secretion disease +BMGC_DS07077,BMG_DS027363,DOID:12445 | Conjugate gaze palsy | Palsy of conjugate gaze (disorder) | Palsy of conjugate gaze | MONDO:0001527 | UMLS ID:C0702143 | conjugate gaze palsy | SNOMEDCT ID:1534008 +BMGC_DS07078,BMG_DS027366,"Congenital aplastic anaemia | Hypoplastic anemia - familial | Congenital aplastic anemia | SNOMEDCT ID:28975000 | SNOMEDCT ID:267523003 | DOID:1342 | congenital hypoplastic anemia | UMLS ID:C0702159 | (Anaemia: [constitutional aplastic] or [familial hypoplastic]) or (pancytopenia with malformations) or (Blackfan - Diamond syndrome) (disorder) | Hypoplastic anaemia - familial | Pancytopenia with malformations | SNOMEDCT ID:154808006 | ICD10 ID:D61.0 | (Anemia: [constitutional aplastic] or [familial hypoplastic]) or (pancytopenia with malformations) or (Blackfan - Diamond syndrome) | Constitutional aplastic anaemia (disorder) | Anaemias or other erythrocyte disorders, unspecified | SNOMEDCT ID:191235004 | Constitutional aplastic anaemia | Constitutional aplastic anemia (disorder) | ICD11 ID:3A9Z | Blackfan - Diamond syndrome | (Anaemia: [constitutional aplastic] or [familial hypoplastic]) or (pancytopenia with malformations) or (Blackfan - Diamond syndrome) | Constitutional aplastic anemia" +BMGC_DS07079,BMG_DS027369,Acne Vulgaris | OMIM ID:MTHU036937 | Acne (disorder) | UMLS ID:C0702166 | acne | MONDO:0011438 | DOID:6543 | SNOMEDCT ID:11381005 | ICD10 ID:L70 | Acne | MeSH ID:D000152 +BMGC_DS07080,BMG_DS027375,DOID:10811 | UMLS ID:C0728864 | nasal cavity cancer | MONDO:0001128 +BMGC_DS07081,BMG_DS027376,Cardiovascular disease | Disorder of circulatory system | CVD - cardiovascular disease | UMLS ID:C0728936 | Cardiovascular disorder | Cardiovascular system disease | Disorder of the circulatory system | SNOMEDCT ID:49601007 | Disorder of cardiovascular system | Disorder of cardiovascular system (disorder) | CVS disease - cardiovascular system disease +BMGC_DS07082,BMG_DS027378,MONDO:0003196 | DOID:4902 | UMLS ID:C0728951 | appendix carcinoma +BMGC_DS07083,BMG_DS027380,UMLS ID:C0729245 | SNOMEDCT ID:196682000 | Acute peptic ulcer | Acute peptic ulcer (disorder) +BMGC_DS07084,BMG_DS027386,UMLS ID:C0729264 | OMIM ID:610504 | preterm premature rupture of the membranes | MONDO:0012511 +BMGC_DS07085,BMG_DS027393,Bacterial respiratory infection | UMLS ID:C0729518 | Bacterial respiratory infection (disorder) | SNOMEDCT ID:312117008 +BMGC_DS07086,BMG_DS027394,UMLS ID:C0729519 | Bacterial upper respiratory infection | Bacterial upper respiratory infection (disorder) | SNOMEDCT ID:312118003 +BMGC_DS07087,BMG_DS027395,Bacterial lower respiratory infection (disorder) | SNOMEDCT ID:312119006 | Bacterial lower respiratory infection | UMLS ID:C0729520 +BMGC_DS07088,BMG_DS027399,Bacterial UTI (urinary tract infection) | SNOMEDCT ID:312124009 | bacterial urinary tract infection | Bacterial urinary infection (disorder) | MONDO:0005247 | Bacterial urinary infection | UMLS ID:C0729524 +BMGC_DS07089,BMG_DS027410,UMLS ID:C0729535 | SNOMEDCT ID:312137007 | Viral ear infection (disorder) | Viral ear infection +BMGC_DS07090,BMG_DS027413,UMLS ID:C0729545 | Fungal ear infection (disorder) | Fungal ear infection | SNOMEDCT ID:312148000 +BMGC_DS07091,BMG_DS027426,MONDO:0007621 | DOID:0111358 | Floating-harbor syndrome | OMIM ID:136140 | MeSH ID:C537062 | UMLS ID:C0729582 | Floating-Harbor syndrome +BMGC_DS07092,BMG_DS027429,Infective otitis media (disorder) | UMLS ID:C0729586 | SNOMEDCT ID:312218008 | Infective otitis media +BMGC_DS07093,BMG_DS027430,Infective blepharitis | UMLS ID:C0729587 | Infective blepharitis (disorder) | SNOMEDCT ID:312219000 +BMGC_DS07094,BMG_DS027450,Infective laryngitis | UMLS ID:C0729772 | Infective laryngitis (disorder) | SNOMEDCT ID:312423006 +BMGC_DS07095,BMG_DS027502,Vitreomacular traction syndrome (disorder) | Vitreomacular traction syndrome | UMLS ID:C0730274 | SNOMEDCT ID:312901001 +BMGC_DS07096,BMG_DS027506,SNOMEDCT ID:312905005 | Severe nonproliferative retinopathy due to diabetes mellitus (disorder) | severe nonproliferative diabetic retinopathy | Severe NPDR (nonproliferative diabetic retinopathy) | DOID:8946 | Severe nonproliferative retinopathy | UMLS ID:C0730278 | Severe nonproliferative retinopathy due to diabetes mellitus | MONDO:0004687 | Severe nonproliferative diabetic retinopathy +BMGC_DS07097,BMG_DS027513,Diabetic macular oedema | SNOMEDCT ID:312912001 | MONDO:0004728 | diabetic macular edema | UMLS ID:C0730285 | Macular edema due to diabetes mellitus (disorder) | Macular oedema due to diabetes mellitus | DOID:9191 | Diabetic macular edema | Macular edema due to diabetes mellitus +BMGC_DS07098,BMG_DS027518,DOID:0050795 | Cone Dystrophy | MeSH ID:D000077765 | cone dystrophy | MONDO:0000455 | UMLS ID:C0730290 +BMGC_DS07099,BMG_DS027519,OMIM ID:MTHU067558 | Choroidal dystrophy | SNOMEDCT ID:312918002 | Choroidal dystrophy (disorder) | UMLS ID:C0730291 +BMGC_DS07100,BMG_DS027520,Macular dystrophy (disorder) | SNOMEDCT ID:312919005 | UMLS ID:C0730292 | Macular dystrophy | OMIM ID:MTHU013225 +BMGC_DS07101,BMG_DS027522,UMLS ID:C0730294 | MONDO:0007630 | DOID:0070439 | North Carolina macular dystrophy (disorder) | OMIM ID:136550 | North Carolina macular dystrophy | SNOMEDCT ID:312925009 +BMGC_DS07102,BMG_DS027523,OMIM ID:126700 | UMLS ID:C0730295 | basal laminar drusen | MONDO:0007472 +BMGC_DS07103,BMG_DS027530,MONDO:0003343 | DOID:5240 | UMLS ID:C0730303 | retinal hemangioblastoma +BMGC_DS07104,BMG_DS027532,UMLS ID:C0730306 | MONDO:0004034 | DOID:6903 | eye lymphoma +BMGC_DS07105,BMG_DS027558,SNOMEDCT ID:312999006 | Macular disease | Maculopathy | Macular disorder | Disorder of macula of retina (disorder) | Disorder of macula of retina | UMLS ID:C0730362 +BMGC_DS07106,BMG_DS027563,UMLS ID:C0730379 | Anhydramnios | OMIM ID:MTHU041644 | Anhydramnios (disorder) | SNOMEDCT ID:313017000 | SNOMEDCT ID:199655009 +BMGC_DS07107,BMG_DS027575,UMLS ID:C0730512 | Nonphysiologic vision loss | Functional visual loss | SNOMEDCT ID:313165001 | Nonphysiologic acuity loss | Functional visual loss (disorder) +BMGC_DS07108,BMG_DS027584,SNOMEDCT ID:195998004 | UMLS ID:C0730607 | SNOMEDCT ID:155584009 | Severe chronic obstructive pulmonary disease | Severe chronic obstructive pulmonary disease (disorder) | SNOMEDCT ID:313299006 +BMGC_DS07109,BMG_DS027588,"MONDO:0010619 | OMIM ID:307800 | Familial Hypophosphatemic Rickets | MeSH ID:D053098 | DOID:0050445 | Hypophosphatemic Rickets, X-Linked Dominant | X-linked dominant hypophosphatemic rickets | UMLS ID:C0733682" +BMGC_DS07110,BMG_DS027589,glottis carcinoma | MONDO:0002355 | DOID:2599 | UMLS ID:C0740083 +BMGC_DS07111,BMG_DS027591,bile duct carcinoma | UMLS ID:C0740277 | MONDO:0005496 | DOID:4897 +BMGC_DS07112,BMG_DS027592,OMIM ID:153550 | MONDO:0007925 | myelodysplastic syndrome associated with isolated del(5q) | UMLS ID:C0740302 +BMGC_DS07113,BMG_DS027593,"Amyloidosis, Familial | UMLS ID:C0740340 | hereditary amyloidosis | MeSH ID:D028226 | MONDO:0018634" +BMGC_DS07114,BMG_DS027595,Mononeuropathy Multiplex | MeSH ID:D020422 | Mononeuropathies | UMLS ID:C0740343 +BMGC_DS07115,BMG_DS027596,UMLS ID:C0740372 | MONDO:0004699 | DOID:903 | gastrointestinal lymphoma +BMGC_DS07116,BMG_DS027598,"UMLS ID:C0740376 | Infarction, Middle Cerebral Artery | MeSH ID:D020244 | Middle Cerebral Artery Thrombosis" +BMGC_DS07117,BMG_DS027599,"UMLS ID:C0740386 | MeSH ID:D002532 | Aneurysm, Anterior Communicating Artery | Intracranial Aneurysm" +BMGC_DS07118,BMG_DS027600,"middle cerebral artery infarction | Infarction, Middle Cerebral Artery | UMLS ID:C0740392 | MONDO:0006857 | DOID:3525 | MeSH ID:D020244" +BMGC_DS07119,BMG_DS027601,Blood urate | (Blood urate (& serum level)) or (hyperuricaemia) | SNOMEDCT ID:35885006 | SNOMEDCT ID:271198001 | (Blood urate (& serum level)) or (hyperuricaemia) (procedure) | DOID:1920 | Hyperuricemia | SNOMEDCT ID:237857006 | (Blood urate (& serum level)) or (hyperuricemia) | SNOMEDCT ID:166733000 | Blood urate raised | Hyperuricaemia (disorder) | hyperuricemia | Serum uric acid level | MONDO:0002144 | obsolete hyperuricemia | OMIM ID:MTHU004766 | Hyperuricaemia | Uricacidemia | (Blood urate raised) or (hyperuricaemia) | Uricacidaemia | UMLS ID:C0740394 | Urate - blood | Hyperuricemia (disorder) | (Blood urate raised) or (hyperuricaemia) (finding) | MeSH ID:D033461 | (Blood urate raized) or (hyperuricemia) | SNOMEDCT ID:144021008 +BMGC_DS07120,BMG_DS027605,Acute diarrhoea | MONDO:0000257 | SNOMEDCT ID:409966000 | acute diarrhea | UMLS ID:C0740441 | Acute diarrhea | Acute diarrhea (disorder) +BMGC_DS07121,BMG_DS027606,Peripheral neuropathy due to diabetes mellitus (disorder) | Peripheral neuropathy due to diabetes mellitus | Diabetic peripheral neuropathy | SNOMEDCT ID:424736006 | UMLS ID:C0740447 +BMGC_DS07122,BMG_DS027608,DOID:263 | kidney cancer | UMLS ID:C0740457 | MONDO:0002367 +BMGC_DS07123,BMG_DS027609,undifferentiated high grade pleomorphic sarcoma of bone | malignant fibrous histiocytoma of bone | DOID:3352 | UMLS ID:C0740479 | MONDO:0002618 +BMGC_DS07124,BMG_DS027610,MONDO:0003165 | cerebellar astrocytoma | UMLS ID:C0740480 | DOID:4848 +BMGC_DS07125,BMG_DS027611,MONDO:0001748 | maxillary sinus carcinoma | UMLS ID:C0740487 | maxillary sinus cancer | DOID:1357 +BMGC_DS07126,BMG_DS027616,MONDO:0002491 | UMLS ID:C0740858 | substance abuse +BMGC_DS07127,BMG_DS027628,"UMLS ID:C0741160 | Aortic Aneurysm, Ruptured | MeSH ID:D001019 | Aortic Rupture | DOID:3627 | aortic aneurysm" +BMGC_DS07128,BMG_DS027638,Recurrent bronchitis | OMIM ID:MTHU011349 | UMLS ID:C0741796 +BMGC_DS07129,BMG_DS027641,MeSH ID:D002318 | Cardiovascular Diseases | Cardiac Events | UMLS ID:C0741923 +BMGC_DS07130,BMG_DS027644,Cerebellar vermis atrophy | UMLS ID:C0742028 | OMIM ID:MTHU009393 +BMGC_DS07131,BMG_DS027646,cerebritis | DOID:3431 | UMLS ID:C0742115 | MONDO:0002645 +BMGC_DS07132,BMG_DS027647,"MeSH ID:D011843 | Radiculopathy, Cervical | UMLS ID:C0742186 | Radiculopathy" +BMGC_DS07133,BMG_DS027650,MeSH ID:D056586 | DOID:1584 | acute chest syndrome | Acute Chest Syndrome | MONDO:0005632 | UMLS ID:C0742343 +BMGC_DS07134,BMG_DS027658,Conus Medullaris Syndrome | MeSH ID:D013117 | UMLS ID:C0742803 | Spinal Cord Compression +BMGC_DS07135,BMG_DS027659,SNOMEDCT ID:424551004 | Bacterial cystitis (disorder) | Bacterial cystitis | Bladder infection due to Bacteria | UMLS ID:C0742964 +BMGC_DS07136,BMG_DS027662,granulomatous dermatitis | Granulomatous dermatitis | DOID:4397 | UMLS ID:C0743086 | OMIM ID:MTHU026378 | MONDO:0006555 +BMGC_DS07137,BMG_DS027666,focal dystonia | UMLS ID:C0743332 | MONDO:0000477 | MeSH ID:D020821 | Focal Dystonia | Dystonic Disorders +BMGC_DS07138,BMG_DS027675,MONDO:0003367 | gastric leiomyosarcoma | DOID:5280 | UMLS ID:C0744295 +BMGC_DS07139,BMG_DS027677,SNOMEDCT ID:123752003 | UMLS ID:C0744421 | immune-complex glomerulonephritis | Immune complex glomerulonephritis | Immune-complex glomerulonephritis | DOID:4784 | Immune-complex glomerulonephritis (disorder) | MONDO:0003140 +BMGC_DS07140,BMG_DS027689,Chronic hiccup | Chronic hiccup (disorder) | MONDO:0018334 | Chronic hiccough | SNOMEDCT ID:716771000 | Chronic hiccoughs | chronic hiccup | UMLS ID:C0744898 | Chronic hiccups +BMGC_DS07141,BMG_DS027690,UMLS ID:C0745048 | DOID:10159 | osteonecrosis +BMGC_DS07142,BMG_DS027691,UMLS ID:C0745091 | MeSH ID:D004802 | Hypereosinophilia | OMIM ID:MTHU010702 | Eosinophilia +BMGC_DS07143,BMG_DS027692,"MeSH ID:D006938 | UMLS ID:C0745103 | OMIM ID:143890 | Hyperlipoproteinemia Type IIa | MONDO:0007750 | Hyperlipoproteinemia Type II | hypercholesterolemia, familial, 1" +BMGC_DS07144,BMG_DS027693,UMLS ID:C0745133 | Isolated Systolic Hypertension | MeSH ID:D000092244 +BMGC_DS07145,BMG_DS027694,UMLS ID:C0745136 | Hypertensive emergency | ICD10 ID:I16.1 | Hypertensive emergency (disorder) | SNOMEDCT ID:132721000119104 +BMGC_DS07146,BMG_DS027695,UMLS ID:C0745138 | Hypertensive Urgency | MeSH ID:D000096003 | hypertensive urgency | MONDO:1030007 | Hypertensive Crisis +BMGC_DS07147,BMG_DS027704,UMLS ID:C0745744 | End Stage Liver Disease | MeSH ID:D058625 +BMGC_DS07148,BMG_DS027708,OMIM ID:MTHU014136 | Chronic lung disease | UMLS ID:C0746102 | Chronic lung disease (disorder) | SNOMEDCT ID:413839001 +BMGC_DS07149,BMG_DS027714,"Myelitis, Necrotizing | Myelitis, Transverse | UMLS ID:C0746706 | MeSH ID:D009188" +BMGC_DS07150,BMG_DS027715,MONDO:0003671 | septal myocardial infarction | UMLS ID:C0746727 | DOID:5846 +BMGC_DS07151,BMG_DS027721,Febrile Neutropenia | UMLS ID:C0746883 | MeSH ID:D064147 +BMGC_DS07152,BMG_DS027726,UMLS ID:C0747085 | Recurrent otitis media | OMIM ID:MTHU001507 +BMGC_DS07153,BMG_DS027727,SNOMEDCT ID:111550004 | UMLS ID:C0747102 | OMIM ID:MTHU074236 | Ovarian failure | Ovarian failure (disorder) +BMGC_DS07154,BMG_DS027730,parotid gland cancer | DOID:9036 | MONDO:0004700 | UMLS ID:C0747273 +BMGC_DS07155,BMG_DS027732,MeSH ID:D020427 | MONDO:0002910 | peroneal neuropathy | Peroneal Neuropathies | DOID:4201 | UMLS ID:C0747533 +BMGC_DS07156,BMG_DS027747,UMLS ID:C0748052 | Exfoliative psoriasis | SNOMEDCT ID:56210000 | SNOMEDCT ID:200977004 | Erythrodermic psoriasis | Psoriasis vulgaris | Erythrodermic psoriasis (disorder) | Psoriasis vulgaris (disorder) | OMIM ID:MTHU068351 | Exfoliative dermatitis due to psoriasis +BMGC_DS07157,BMG_DS027749,MeSH ID:D020425 | UMLS ID:C0748226 | DOID:12171 | radial neuropathy | Radial Neuropathy | MONDO:0001459 +BMGC_DS07158,BMG_DS027754,OMIM ID:613471 | Primary biliary cirrhosis co-occurrent with systemic scleroderma (disorder) | Primary biliary cirrhosis co-occurrent with systemic scleroderma | Reynolds syndrome | UMLS ID:C0748397 | SNOMEDCT ID:715401008 | MONDO:0013276 +BMGC_DS07159,BMG_DS027755,"UMLS ID:C0748400 | HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED | MONDO:0859172 | OMIM ID:619462 | hemolytic disease of fetus and newborn, RH-induced" +BMGC_DS07160,BMG_DS027758,"UMLS ID:C0748473 | OMIM ID:108100 | MeSH ID:C563037 | Arthritis, Sacroiliac | MONDO:0007156 | arthritis, sacroiliac" +BMGC_DS07161,BMG_DS027759,"MeSH ID:D045745 | MONDO:0016358 | DOID:1577 | UMLS ID:C0748540 | limited scleroderma | Scleroderma, Limited | limited cutaneous systemic sclerosis" +BMGC_DS07162,BMG_DS027761,DOID:3643 | MONDO:0002720 | UMLS ID:C0748616 | sella turcica neoplasm +BMGC_DS07163,BMG_DS027770,Submandibular abscess | UMLS ID:C0749101 | ICD11 ID:DA01.30 | Cellulitis or abscess of soft tissues of the mouth | DOID:0060310 | uvulitis | ICD10 ID:K12.2 +BMGC_DS07164,BMG_DS027772,MONDO:0004293 | supraglottis squamous cell carcinoma | UMLS ID:C0749163 | DOID:7587 +BMGC_DS07165,BMG_DS027777,MONDO:0019855 | UMLS ID:C0749420 | athyreosis +BMGC_DS07166,BMG_DS027778,oncocytic carcinoma of the thyroid | OMIM ID:607464 | thyroid Hurthle cell carcinoma | MONDO:0011836 | UMLS ID:C0749424 | DOID:8161 +BMGC_DS07167,BMG_DS027790,MONDO:0007390 | OMIM ID:122700 | UMLS ID:C0750384 | coumarin resistance +BMGC_DS07168,BMG_DS027794,Cochlear Neuritis | Vestibulocochlear Nerve Diseases | UMLS ID:C0750884 | MeSH ID:D000160 +BMGC_DS07169,BMG_DS027795,MeSH ID:D000160 | Cochlear Nerve Diseases | Vestibulocochlear Nerve Diseases | UMLS ID:C0750885 +BMGC_DS07170,BMG_DS027796,UMLS ID:C0750886 | Vestibular Nerve Diseases | Vestibulocochlear Nerve Diseases | MeSH ID:D000160 +BMGC_DS07171,BMG_DS027797,UMLS ID:C0750887 | MONDO:0002817 | adrenal gland cancer | DOID:3953 +BMGC_DS07172,BMG_DS027798,"Autonomic Hyperactivity, Alcohol Withdrawal Associated | UMLS ID:C0750897 | MeSH ID:D000430 | Alcohol Withdrawal Delirium" +BMGC_DS07173,BMG_DS027799,"MeSH ID:D000544 | UMLS ID:C0750901 | Alzheimer Disease | Alzheimer Disease, Early Onset" +BMGC_DS07174,BMG_DS027800,"Amblyopia | UMLS ID:C0750902 | MeSH ID:D000550 | Amblyopia, Developmental" +BMGC_DS07175,BMG_DS027801,"suppression amblyopia | DOID:10375 | strabismic amblyopia | Amblyopia | UMLS ID:C0750903 | MeSH ID:D000550 | MONDO:0001019 | Amblyopia, Suppression" +BMGC_DS07176,BMG_DS027802,"UMLS ID:C0750905 | MeSH ID:D000592 | Amino Acid Metabolism, Inborn Errors | Amino Acid Metabolism, Inherited Disorders" +BMGC_DS07177,BMG_DS027803,MONDO:0011184 | childhood apraxia of speech | OMIM ID:602081 | UMLS ID:C0750927 +BMGC_DS07178,BMG_DS027804,Chiari malformation type I | UMLS ID:C0750929 | OMIM ID:118420 | MONDO:0007316 +BMGC_DS07179,BMG_DS027807,malignant astrocytoma | MONDO:0021633 | cerebral astrocytoma | UMLS ID:C0750935 | DOID:3069 +BMGC_DS07180,BMG_DS027808,"Ataxia | MeSH ID:D001259 | UMLS ID:C0750940 | Tremor, Rubral" +BMGC_DS07181,BMG_DS027810,Autonomic Nervous System Diseases | MeSH ID:D001342 | UMLS ID:C0750944 | Peripheral Autonomic Nervous System Diseases +BMGC_DS07182,BMG_DS027811,"UMLS ID:C0750945 | parasympathetic nervous system disorder | MONDO:0044995 | Nervous System Diseases, Parasympathetic | Autonomic Nervous System Diseases | MeSH ID:D001342" +BMGC_DS07183,BMG_DS027812,"UMLS ID:C0750946 | Autonomic Nervous System Diseases | MeSH ID:D001342 | Nervous System Diseases, Sympathetic | MONDO:0044993 | sympathetic nervous system disorder" +BMGC_DS07184,BMG_DS027813,Vertebrogenic Pain Syndrome | UMLS ID:C0750949 | Back Pain | MeSH ID:D001416 +BMGC_DS07185,BMG_DS027814,UMLS ID:C0750951 | Basal Ganglia Diseases | Lenticulostriate Disorders | MeSH ID:D001480 +BMGC_DS07186,BMG_DS027815,MONDO:0003060 | UMLS ID:C0750952 | DOID:4607 | biliary tract cancer +BMGC_DS07187,BMG_DS027816,"obsolete neurogenic bladder | Urinary Bladder, Neurogenic | Urinary Bladder Neurogenesis | UMLS ID:C0750953 | MONDO:0001445 | MeSH ID:D001750" +BMGC_DS07188,BMG_DS027817,"obsolete neurogenic bladder | UMLS ID:C0750955 | Neurogenic Urinary Bladder, Spastic | Urinary Bladder, Neurogenic | MONDO:0001445 | MeSH ID:D001750" +BMGC_DS07189,BMG_DS027818,"MeSH ID:D001766 | UMLS ID:C0750958 | Blindness | Blindness, Monocular" +BMGC_DS07190,BMG_DS027823,"Brain Diseases, Metabolic | Central Nervous System Metabolic Disorders | MeSH ID:D001928 | UMLS ID:C0750968" +BMGC_DS07191,BMG_DS027824,brain cancer | UMLS ID:C0750974 | MONDO:0021632 | primary brain neoplasm | DOID:1319 +BMGC_DS07192,BMG_DS027825,brain cancer | UMLS ID:C0750979 | DOID:1319 +BMGC_DS07193,BMG_DS027826,Internal Carotid Artery Diseases | UMLS ID:C0750986 | MeSH ID:D002340 | Carotid Artery Diseases +BMGC_DS07194,BMG_DS027827,"Arterial Diseases, Common Carotid | UMLS ID:C0750987 | MeSH ID:D002340 | Carotid Artery Diseases" +BMGC_DS07195,BMG_DS027828,UMLS ID:C0750988 | MeSH ID:D002341 | Carotid Artery Thrombosis | Common Carotid Artery Thrombosis +BMGC_DS07196,BMG_DS027829,UMLS ID:C0750989 | MeSH ID:D002341 | Carotid Artery Thrombosis | External Carotid Artery Thrombosis +BMGC_DS07197,BMG_DS027830,UMLS ID:C0750990 | MeSH ID:D002341 | Carotid Artery Thrombosis | Internal Carotid Artery Thrombosis +BMGC_DS07198,BMG_DS027832,"UMLS ID:C0750992 | Catatonia | MeSH ID:D002389 | Catatonia, Malignant" +BMGC_DS07199,BMG_DS027834,"UMLS ID:C0751001 | Aneurysm, Basilar Artery | MeSH ID:D002532 | Intracranial Aneurysm" +BMGC_DS07200,BMG_DS027835,UMLS ID:C0751003 | MONDO:0005291 | brain aneurysm | Brain Aneurysm | MeSH ID:D002532 | Intracranial Aneurysm +BMGC_DS07201,BMG_DS027836,Intracranial Aneurysm | MeSH ID:D002532 | Giant Intracranial Aneurysm | UMLS ID:C0751004 +BMGC_DS07202,BMG_DS027837,"MeSH ID:D002532 | Mycotic Aneurysm, Intracranial | UMLS ID:C0751005 | Intracranial Aneurysm" +BMGC_DS07203,BMG_DS027838,UMLS ID:C0751007 | Intracranial Atherosclerosis | MeSH ID:D002537 | Intracranial Arteriosclerosis +BMGC_DS07204,BMG_DS027839,"Cerebral Infarction, Left Hemisphere | MeSH ID:D002544 | Cerebral Infarction | UMLS ID:C0751010" +BMGC_DS07205,BMG_DS027840,"UMLS ID:C0751011 | Cerebral Infarction, Right Hemisphere | MeSH ID:D002544 | Cerebral Infarction" +BMGC_DS07206,BMG_DS027841,Cerebral Infarction | MeSH ID:D002544 | UMLS ID:C0751012 | Anterior Choroidal Artery Infarction +BMGC_DS07207,BMG_DS027842,Subcortical Infarction | MeSH ID:D002544 | Cerebral Infarction | UMLS ID:C0751014 +BMGC_DS07208,BMG_DS027843,"UMLS ID:C0751019 | MeSH ID:D002546 | Ischemic Attack, Transient | Carotid Circulation Transient Ischemic Attack" +BMGC_DS07209,BMG_DS027844,"MeSH ID:D002546 | UMLS ID:C0751020 | Ischemic Attack, Transient | Transient Ischemic Attack, Vertebrobasilar Circulation" +BMGC_DS07210,BMG_DS027845,"MeSH ID:D002546 | UMLS ID:C0751021 | Ischemic Attack, Transient | Crescendo Transient Ischemic Attacks" +BMGC_DS07211,BMG_DS027846,"MeSH ID:D002546 | UMLS ID:C0751022 | Ischemic Attack, Transient | Brain Stem Ischemia, Transient" +BMGC_DS07212,BMG_DS027847,"MeSH ID:D002547 | MONDO:0000400 | Cerebral Palsy | Cerebral Palsy, Mixed | UMLS ID:C0751024 | mixed cerebral palsy" +BMGC_DS07213,BMG_DS027848,"MeSH ID:D002547 | Cerebral Palsy | UMLS ID:C0751025 | Cerebral Palsy, Rolandic Type" +BMGC_DS07214,BMG_DS027852,UMLS ID:C0751036 | MONDO:0019011 | Charcot-Marie-Tooth disease type 1 +BMGC_DS07215,BMG_DS027853,"UMLS ID:C0751037 | Cockayne syndrome type 3 | MONDO:0008998 | OMIM ID:216411 | MeSH ID:D003057 | Cockayne Syndrome, Type III | Cockayne Syndrome" +BMGC_DS07216,BMG_DS027854,"OMIM ID:133540 | Cockayne syndrome type 2 | Cockayne Syndrome, Type II | MeSH ID:D003057 | UMLS ID:C0751038 | MONDO:0019570 | Cockayne Syndrome" +BMGC_DS07217,BMG_DS027855,"Cockayne Syndrome, Type I | UMLS ID:C0751039 | OMIM ID:216400 | Cockayne syndrome type 1 | MeSH ID:D003057 | Cockayne Syndrome | MONDO:0019569" +BMGC_DS07218,BMG_DS027856,"Color Vision Defects | MeSH ID:D003117 | UMLS ID:C0751042 | Color Blindness, Inherited" +BMGC_DS07219,BMG_DS027857,Color Vision Defects | Monochromatopsia | MeSH ID:D003117 | UMLS ID:C0751043 +BMGC_DS07220,BMG_DS027858,"UMLS ID:C0751057 | Seizures, Febrile | MeSH ID:D003294 | Seizure, Febrile, Complex" +BMGC_DS07221,BMG_DS027859,"UMLS ID:C0751059 | MeSH ID:D003389 | Cranial Neuropathies, Multiple | Cranial Nerve Diseases" +BMGC_DS07222,BMG_DS027860,"Deafness, Acquired | UMLS ID:C0751068 | MeSH ID:D003638 | Deafness" +BMGC_DS07223,BMG_DS027861,MeSH ID:D003929 | Diabetic Neuropathies | Diabetic Neuralgia | UMLS ID:C0751074 +BMGC_DS07224,BMG_DS027863,"Diplopia | Diplopia, Vertical | MeSH ID:D004172 | UMLS ID:C0751079" +BMGC_DS07225,BMG_DS027864,"UMLS ID:C0751081 | Down Syndrome | Trisomy 21, Mitotic Nondisjunction | MeSH ID:D004314" +BMGC_DS07226,BMG_DS027865,"OMIM ID:604356 | MONDO:0011444 | Duane retraction syndrome 2 | Duane Retraction Syndrome | Duane Retraction Syndrome, Type 2 | MeSH ID:D004370 | UMLS ID:C0751083" +BMGC_DS07227,BMG_DS027866,"UMLS ID:C0751084 | MeSH ID:D004370 | Duane Retraction Syndrome, Type 3 | Duane Retraction Syndrome" +BMGC_DS07228,BMG_DS027867,"Dyskinesia, Medication-Induced | Dyskinesia, Drug-Induced | MeSH ID:D004409 | UMLS ID:C0751088" +BMGC_DS07229,BMG_DS027868,UMLS ID:C0751094 | ear cancer | DOID:5101 +BMGC_DS07230,BMG_DS027869,"Empty Sella Syndrome | MeSH ID:D004652 | UMLS ID:C0751097 | Empty Sella Syndrome, Secondary" +BMGC_DS07231,BMG_DS027871,"Encephalomyelitis, Postexanthem | MeSH ID:D004673 | Encephalomyelitis, Acute Disseminated | UMLS ID:C0751099" +BMGC_DS07232,BMG_DS027872,"UMLS ID:C0751100 | MeSH ID:D004673 | Postinfectious Encephalomyelitis | Encephalomyelitis, Acute Disseminated" +BMGC_DS07233,BMG_DS027873,"Post-Vaccinal Encephalitis | Encephalomyelitis, Acute Disseminated | DOID:13664 | UMLS ID:C0751101 | post-vaccinal encephalitis | MeSH ID:D004673 | MONDO:0001773" +BMGC_DS07234,BMG_DS027878,"MeSH ID:D004684 | Leukoencephalitis, Acute Hemorrhagic | Leukoencephalitis, Subacute Hemorrhagic | UMLS ID:C0751108" +BMGC_DS07235,BMG_DS027879,Single Seizure | UMLS ID:C0751110 | Seizures | MeSH ID:D012640 +BMGC_DS07236,BMG_DS027880,UMLS ID:C0751111 | Epilepsy | Awakening Epilepsy | MeSH ID:D004827 +BMGC_DS07237,BMG_DS027881,"UMLS ID:C0751112 | MeSH ID:D004828 | Subclinical Seizure | Epilepsies, Partial" +BMGC_DS07238,BMG_DS027882,"MeSH ID:D004828 | UMLS ID:C0751113 | Epilepsies, Partial | Uncinate Seizures" +BMGC_DS07239,BMG_DS027883,"Digestive Epilepsy | UMLS ID:C0751115 | MeSH ID:D004828 | Epilepsies, Partial" +BMGC_DS07240,BMG_DS027884,"MeSH ID:D004830 | Epilepsy, Tonic-Clonic | Cryptogenic Tonic-Clonic Epilepsy | UMLS ID:C0751117" +BMGC_DS07241,BMG_DS027885,"Epilepsy, Tonic-Clonic, Familial | UMLS ID:C0751118 | Epilepsy, Tonic-Clonic | MeSH ID:D004830" +BMGC_DS07242,BMG_DS027886,"UMLS ID:C0751119 | MeSH ID:D004830 | Epilepsy, Tonic-Clonic | Epilepsy, Tonic-Clonic, Symptomatic" +BMGC_DS07243,BMG_DS027887,"UMLS ID:C0751120 | Benign Infantile Myoclonic Epilepsy | MONDO:0100566 | Epilepsies, Myoclonic | MeSH ID:D004831 | myoclonic epilepsy in infancy" +BMGC_DS07244,BMG_DS027888,"UMLS ID:C0751122 | Epilepsies, Myoclonic | MONDO:0100135 | MeSH ID:D004831 | Dravet syndrome | Infantile Severe Myoclonic Epilepsy" +BMGC_DS07245,BMG_DS027889,Atonic Absence Seizures | UMLS ID:C0751123 | Seizures | MeSH ID:D012640 +BMGC_DS07246,BMG_DS027890,"absence epilepsy | DOID:0070309 | UMLS ID:C0751124 | Epilepsy, Absence | Epilepsy, Absence, Atypical | MeSH ID:D004832" +BMGC_DS07247,BMG_DS027892,Facial Nerve Diseases | UMLS ID:C0751131 | MeSH ID:D005155 | Facial Neuritis +BMGC_DS07248,BMG_DS027893,Facial Nerve Diseases | UMLS ID:C0751132 | MeSH ID:D005155 | Familial Facial Neuropathy +BMGC_DS07249,BMG_DS027894,Facial Nerve Diseases | MeSH ID:D005155 | UMLS ID:C0751133 | Acquired Facial Neuropathy +BMGC_DS07250,BMG_DS027896,"Fibromyalgia, Primary | MeSH ID:D005356 | UMLS ID:C0751152 | Fibromyalgia" +BMGC_DS07251,BMG_DS027897,"Fibromyalgia | Fibromyalgia, Secondary | MeSH ID:D005356 | UMLS ID:C0751153" +BMGC_DS07252,BMG_DS027898,Fragile X Syndrome | MeSH ID:D005600 | UMLS ID:C0751156 | FRAXA Syndrome +BMGC_DS07253,BMG_DS027899,Fragile X Syndrome | MeSH ID:D005600 | OMIM ID:309548 | UMLS ID:C0751157 | FRAXE Syndrome | MONDO:0010659 | FRAXE intellectual disability +BMGC_DS07254,BMG_DS027900,galactose epimerase deficiency | MONDO:0009257 | UMLS ID:C0751161 | DOID:0111458 | OMIM ID:230350 +BMGC_DS07255,BMG_DS027902,MeSH ID:D006009 | Adult Glycogen Storage Disease Type II | UMLS ID:C0751172 | Glycogen Storage Disease Type II +BMGC_DS07256,BMG_DS027903,"Glycogen Storage Disease Type II, Infantile | UMLS ID:C0751173 | MeSH ID:D006009 | Glycogen Storage Disease Type II" +BMGC_DS07257,BMG_DS027904,"UMLS ID:C0751174 | Glycogen Storage Disease Type II, Juvenile | MeSH ID:D006009 | Glycogen Storage Disease Type II" +BMGC_DS07258,BMG_DS027905,"Primary Cough Headache | UMLS ID:C0751185 | MeSH ID:D051270 | Headache Disorders, Primary" +BMGC_DS07259,BMG_DS027906,Fulminant Hepatic Failure with Cerebral Edema | MeSH ID:D006501 | Hepatic Encephalopathy | UMLS ID:C0751197 +BMGC_DS07260,BMG_DS027907,Hepatic Stupor | MeSH ID:D006501 | UMLS ID:C0751198 | Hepatic Encephalopathy +BMGC_DS07261,BMG_DS027908,OMIM ID:236200 | MONDO:0009352 | classic homocystinuria | MeSH ID:D006712 | UMLS ID:C0751202 | Cystathionine beta-Synthase Deficiency Disease | Homocystinuria +BMGC_DS07262,BMG_DS027913,Akinetic-Rigid Variant of Huntington Disease | MeSH ID:D006816 | UMLS ID:C0751207 | Huntington Disease +BMGC_DS07263,BMG_DS027914,UMLS ID:C0751208 | juvenile Huntington disease | Huntington Disease | Juvenile Huntington Disease | MeSH ID:D006816 | MONDO:0016621 +BMGC_DS07264,BMG_DS027915,UMLS ID:C0751220 | Pituitary ACTH Hypersecretion | Inappropriate ACTH Secretion Syndrome | MeSH ID:D047748 +BMGC_DS07265,BMG_DS027919,"MeSH ID:D006970 | DOID:8619 | Hypersomnia, Recurrent | recurrent hypersomnia | Disorders of Excessive Somnolence | UMLS ID:C0751226 | MONDO:0004617" +BMGC_DS07266,BMG_DS027920,"Disorders of Excessive Somnolence | Hypersomnolence Disorders, Primary | MeSH ID:D006970 | UMLS ID:C0751227" +BMGC_DS07267,BMG_DS027921,"Disorders of Excessive Somnolence | Hypersomnolence Disorders, Secondary | MeSH ID:D006970 | UMLS ID:C0751228" +BMGC_DS07268,BMG_DS027922,Hypothalamic Diseases | MONDO:0043101 | UMLS ID:C0751230 | MeSH ID:D007027 | hypothalamic dysfunction | Hypothalamic Dysfunction Syndromes +BMGC_DS07269,BMG_DS027923,UMLS ID:C0751231 | Hypothalamic Dysinhibition Syndrome | Hypothalamic Diseases | MeSH ID:D007027 +BMGC_DS07270,BMG_DS027924,Hypothalamic Overactivity Syndrome | Hypothalamic Diseases | UMLS ID:C0751232 | 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,UMLS ID:C0751235 | Hypothalamic Diseases | Pituitary Diencephalic Syndrome | MeSH ID:D007027 +BMGC_DS07274,BMG_DS027928,Chronic Insomnia | UMLS ID:C0751249 | MeSH ID:D007319 | Sleep Initiation and Maintenance Disorders +BMGC_DS07275,BMG_DS027929,Psychophysiological Insomnia | MeSH ID:D007319 | UMLS ID:C0751250 | Sleep Initiation and Maintenance Disorders +BMGC_DS07276,BMG_DS027930,MeSH ID:D007319 | Sleep Initiation and Maintenance Disorders | Sleep Initiation Dysfunction | UMLS ID:C0751252 +BMGC_DS07277,BMG_DS027931,"Creutzfeldt-Jakob Syndrome | MeSH ID:D007562 | UMLS ID:C0751254 | MONDO:0007403 | OMIM ID:123400 | Creutzfeldt-Jakob Disease, Familial | inherited Creutzfeldt-Jakob disease" +BMGC_DS07278,BMG_DS027933,"MeSH ID:D007805 | auditory perceptual disorders | MONDO:0024422 | Language Development Disorders | Auditory Processing Disorder, Central | UMLS ID:C0751257" +BMGC_DS07279,BMG_DS027934,UMLS ID:C0751265 | MONDO:0004681 | DOID:8927 | learning disability +BMGC_DS07280,BMG_DS027935,"Leigh Disease | MeSH ID:D007888 | UMLS ID:C0751267 | Encephalopathy, Subacute Necrotizing, Infantile" +BMGC_DS07281,BMG_DS027936,"Leigh Disease | Encephalopathy, Subacute Necrotizing, Juvenile | UMLS ID:C0751268 | MeSH ID:D007888" +BMGC_DS07282,BMG_DS027937,"MeSH ID:D007965 | Leukodystrophy, Globoid Cell | Infantile Globoid Cell Leukodystrophy | MONDO:0016089 | infantile Krabbe disease | UMLS ID:C0751273" +BMGC_DS07283,BMG_DS027938,"Metachromatic leukodystrophy, juvenile type | Scholz cerebral sclerosis | Metachromatic leukodystrophy, juvenile type (disorder) | metachromatic leukodystrophy, juvenile form | Scholz-Bielschowsky-Henneberg diffuse cerebral sclerosis | SNOMEDCT ID:44359008 | OMIM ID:250100 | Juvenile metachromatic leucodystrophy | Metachromatic leucodystrophy, juvenile type | MONDO:0009591 | UMLS ID:C0751276" +BMGC_DS07284,BMG_DS027939,"MONDO:0017729 | MeSH ID:D007966 | metachromatic leukodystrophy, late infantile form | UMLS ID:C0751278 | Leukodystrophy, Metachromatic | Metachromatic Leukodystrophy, Infant" +BMGC_DS07285,BMG_DS027940,"UMLS ID:C0751279 | Leukodystrophy, Metachromatic, Adult | MONDO:0017730 | metachromatic leukodystrophy, adult form | Leukodystrophy, Metachromatic | MeSH ID:D007966" +BMGC_DS07286,BMG_DS027942,"thiamine-responsive maple syrup urine disease | MeSH ID:D008375 | Maple Syrup Urine Disease, Thiamine Responsive | MONDO:0017054 | UMLS ID:C0751285 | Maple Syrup Urine Disease" +BMGC_DS07287,BMG_DS027943,MONDO:0016711 | UMLS ID:C0751291 | desmoplastic/nodular medulloblastoma +BMGC_DS07288,BMG_DS027944,MONDO:0003774 | UMLS ID:C0751303 | cerebral convexity meningioma | DOID:6114 +BMGC_DS07289,BMG_DS027945,DOID:6869 | parasagittal meningioma | MONDO:0004022 | UMLS ID:C0751304 +BMGC_DS07290,BMG_DS027946,"UMLS ID:C0751307 | Meningitis, Haemophilus parainfluenzae | MeSH ID:D008583 | Meningitis, Haemophilus | DOID:0080179 | haemophilus meningitis" +BMGC_DS07291,BMG_DS027947,"UMLS ID:C0751308 | Meningitis, Haemophilus influenzae Type F | MeSH ID:D008583 | Meningitis, Haemophilus | DOID:0080179 | haemophilus meningitis" +BMGC_DS07292,BMG_DS027948,"MeSH ID:D008586 | Meningitis, Pneumococcal | Meningitis, Pneumococcal, Penicillin-Resistant | UMLS ID:C0751313" +BMGC_DS07293,BMG_DS027949,myelomeningocele | UMLS ID:C0751316 | DOID:0060326 +BMGC_DS07294,BMG_DS027950,"Moyamoya Disease | MeSH ID:D009072 | UMLS ID:C0751322 | Moyamoya Disease, Primary" +BMGC_DS07295,BMG_DS027951,"Moyamoya Disease | Moyamoya Disease, Secondary | MeSH ID:D009072 | UMLS ID:C0751323" +BMGC_DS07296,BMG_DS027952,"Multiple Sclerosis, Acute Fulminating | Multiple Sclerosis | MeSH ID:D009103 | UMLS ID:C0751324" +BMGC_DS07297,BMG_DS027953,"Progressive Proximal Myelopathic Muscular Atrophy | MeSH ID:D009134 | UMLS ID:C0751334 | Muscular Atrophy, Spinal" +BMGC_DS07298,BMG_DS027954,"scapuloperoneal spinal muscular atrophy, autosomal dominant | scapuloperoneal spinal muscular atrophy | Muscular Atrophy, Spinal | UMLS ID:C0751335 | MeSH ID:D009134 | Scapuloperoneal Form of Spinal Muscular Atrophy | MONDO:0008408 | DOID:0111552 | OMIM ID:181405" +BMGC_DS07299,BMG_DS027955,MONDO:0018949 | distal myopathy | UMLS ID:C0751336 | Distal Myopathies | Distal Muscular Dystrophies | DOID:11720 | MeSH ID:D049310 +BMGC_DS07300,BMG_DS027956,X-linked Emery-Dreifuss muscular dystrophy | UMLS ID:C0751337 | X-Linked Emery-Dreifuss Muscular Dystrophy | MONDO:0010680 | MeSH ID:D000083143 +BMGC_DS07301,BMG_DS027957,"Myasthenia Gravis | UMLS ID:C0751339 | Myasthenia Gravis, Generalized | MeSH ID:D009157" +BMGC_DS07302,BMG_DS027958,"UMLS ID:C0751340 | Myasthenia Gravis | MeSH ID:D009157 | Myasthenia Gravis, Ocular" +BMGC_DS07303,BMG_DS027960,"Myelitis, Transverse | Myelitis, Paraneoplastic | MeSH ID:D009188 | UMLS ID:C0751342" +BMGC_DS07304,BMG_DS027961,"Myelitis, Transverse | Myelitis, Postinfectious | UMLS ID:C0751343 | MeSH ID:D009188" +BMGC_DS07305,BMG_DS027962,"Myelitis, Transverse | UMLS ID:C0751344 | MeSH ID:D009188 | Myelitis, Postvaccinal" +BMGC_DS07306,BMG_DS027963,"Myelitis, Transverse | MeSH ID:D009188 | Myelitis, Subacute Transverse | UMLS ID:C0751345" +BMGC_DS07307,BMG_DS027964,"Demyelinative Myelitis | UMLS ID:C0751346 | MeSH ID:D009188 | Myelitis, Transverse" +BMGC_DS07308,BMG_DS027965,"Myoclonus | MeSH ID:D009207 | Myoclonus, Eyelid | UMLS ID:C0751349" +BMGC_DS07309,BMG_DS027966,idiopathic inflammatory myopathy | Idiopathic Inflammatory Myopathies | MONDO:0600023 | UMLS ID:C0751356 | MeSH ID:D009220 | Myositis +BMGC_DS07310,BMG_DS027967,"Myositis, Focal | UMLS ID:C0751357 | Myositis | MeSH ID:D009220" +BMGC_DS07311,BMG_DS027968,"MeSH ID:D009224 | Thomsen and Becker disease | Becker Generalized Myotonia | OMIM ID:255700 | myotonia congenita, autosomal recessive | Myotonia Congenita | MONDO:0009715;MONDO:0009710 | UMLS ID:C0751360" +BMGC_DS07312,BMG_DS027969,Narcolepsy-Cataplexy Syndrome | MeSH ID:D009290 | MONDO:0016158 | narcolepsy-cataplexy syndrome | Narcolepsy | UMLS ID:C0751362 +BMGC_DS07313,BMG_DS027970,External Nerve Compression Syndromes | UMLS ID:C0751367 | MeSH ID:D009408 | Nerve Compression Syndromes +BMGC_DS07314,BMG_DS027971,Nerve Compression Syndromes | MeSH ID:D009408 | Internal Nerve Compression Syndromes | UMLS ID:C0751368 +BMGC_DS07315,BMG_DS027972,UMLS ID:C0751376 | Neuroleptic-Induced Neuroleptic Malignant Syndrome | Neuroleptic Malignant Syndrome | MeSH ID:D009459 +BMGC_DS07316,BMG_DS027973,Neuromuscular Diseases | Foley-Denny-Brown Syndrome | MONDO:0035586 | MeSH ID:D009468 | Cramp-fasciculation syndrome | UMLS ID:C0751381 +BMGC_DS07317,BMG_DS027974,MONDO:0008767 | MeSH ID:D009472 | Juvenile Neuronal Ceroid Lipofuscinosis | OMIM ID:204200 | UMLS ID:C0751383 | neuronal ceroid lipofuscinosis 3 | Neuronal Ceroid-Lipofuscinoses +BMGC_DS07318,BMG_DS027975,UMLS ID:C0751396 | oligodendroglioma | DOID:3181 +BMGC_DS07319,BMG_DS027979,Optic Disk Disorders | UMLS ID:C0751402 | MeSH ID:D009901 | Optic Nerve Diseases +BMGC_DS07320,BMG_DS027980,MeSH ID:D010024 | UMLS ID:C0751406 | Post-Traumatic Osteoporosis | Osteoporosis +BMGC_DS07321,BMG_DS027982,"MeSH ID:D010302 | Parkinson Disease, Secondary Vascular | UMLS ID:C0751414 | Parkinson Disease, Secondary" +BMGC_DS07322,BMG_DS027983,"MeSH ID:D010302 | UMLS ID:C0751415 | Parkinson Disease, Secondary | Atherosclerotic Parkinsonism" +BMGC_DS07323,BMG_DS027984,MONDO:0017953 | hereditary periodic fever syndrome | UMLS ID:C0751422 | MeSH ID:D056660 | Hereditary Autoinflammatory Diseases +BMGC_DS07324,BMG_DS027987,"Classical phenylketonuria | UMLS ID:C0751434 | ICD10 ID:E70.0 | ICD11 ID:5C50.00 | SNOMEDCT ID:7573000 | Hyperphenylalaninaemia, type I | Imbecilitus phenylpyruvica | Severe phenylalanine hydroxylase deficiency | Classical phenylketonuria (disorder) | Hyperphenylalaninemia, type I | MONDO:0019259 | classic phenylketonuria" +BMGC_DS07325,BMG_DS027988,Hyperphenylalaninemia | SNOMEDCT ID:68528007 | Hyperphenylalaninemia (disorder) | MeSH ID:D010661 | Phenylketonurias | Hyperphenylalaninaemia | UMLS ID:C0751435 +BMGC_DS07326,BMG_DS027989,"Hyperphenylalaninemia, Non-Phenylketonuric | MONDO:0016543 | UMLS ID:C0751436 | MeSH ID:D010661 | Phenylketonurias | hyperphenylalaninemia due to tetrahydrobiopterin deficiency" +BMGC_DS07327,BMG_DS027990,anterior pituitary gland disorder | Adenohypophyseal Diseases | Pituitary Diseases | MONDO:0024468 | UMLS ID:C0751437 | MeSH ID:D010900 +BMGC_DS07328,BMG_DS027994,"UMLS ID:C0751445 | Poliomyelitis | MeSH ID:D011051 | Encephalitis, Polio" +BMGC_DS07329,BMG_DS027995,"Poliomyelitis, Nonpoliovirus | Poliomyelitis | MeSH ID:D011051 | UMLS ID:C0751446" +BMGC_DS07330,BMG_DS027996,"Poliomyelitis | MeSH ID:D011051 | UMLS ID:C0751447 | Poliomyelitis, Preparalytic" +BMGC_DS07331,BMG_DS027997,"Polyneuropathy, Familial | UMLS ID:C0751448 | Polyneuropathies | MeSH ID:D011115" +BMGC_DS07332,BMG_DS027998,Acquired Polyneuropathy | Polyneuropathies | UMLS ID:C0751449 | MeSH ID:D011115 +BMGC_DS07333,BMG_DS028000,MeSH ID:D011782 | Flaccid Quadriplegia | Quadriplegia | UMLS ID:C0751460 +BMGC_DS07334,BMG_DS028001,"UMLS ID:C0751461 | MeSH ID:D011782 | Quadriplegia | Paralysis, Spinal, Quadriplegic" +BMGC_DS07335,BMG_DS028002,MeSH ID:D011843 | Nerve Root Compression | UMLS ID:C0751463 | Radiculopathy +BMGC_DS07336,BMG_DS028003,MONDO:0018160 | OMIM ID:180200 | hereditary retinoblastoma | UMLS ID:C0751483 | DOID:4648 | familial retinoblastoma +BMGC_DS07337,BMG_DS028004,"MeSH ID:D012202 | Reye Syndrome | Reye Syndrome, Adult | UMLS ID:C0751485" +BMGC_DS07338,BMG_DS028005,Reye-Like Syndrome | MeSH ID:D012202 | UMLS ID:C0751486 | Reye Syndrome +BMGC_DS07339,BMG_DS028006,"Sandhoff disease, adult form | MeSH ID:D012497 | Sandhoff Disease | MONDO:0017723 | Adult Sandhoff Disease | UMLS ID:C0751489" +BMGC_DS07340,BMG_DS028007,"MeSH ID:D012497 | Sandhoff disease, infantile form | Infantile Sandhoff Disease | MONDO:0017721 | Sandhoff Disease | UMLS ID:C0751490" +BMGC_DS07341,BMG_DS028008,"UMLS ID:C0751491 | MONDO:0017722 | Sandhoff disease, juvenile form | Juvenile Sandhoff Disease | Sandhoff Disease | MeSH ID:D012497" +BMGC_DS07342,BMG_DS028009,"Seizures, Focal | Seizures | MeSH ID:D012640 | UMLS ID:C0751495" +BMGC_DS07343,BMG_DS028010,Special Senses Disorders | MeSH ID:D012678 | UMLS ID:C0751497 | Sensation Disorders +BMGC_DS07344,BMG_DS028011,"MeSH ID:D012851 | Petrous Sinus Thrombophlebitis | Sinus Thrombosis, Intracranial | UMLS ID:C0751500" +BMGC_DS07345,BMG_DS028012,"UMLS ID:C0751501 | Sinus Thrombosis, Intracranial | MeSH ID:D012851 | Intracranial Sinus Thrombophlebitis" +BMGC_DS07346,BMG_DS028013,"Petrous Sinus Thrombosis | Sinus Thrombosis, Intracranial | UMLS ID:C0751502 | MeSH ID:D012851" +BMGC_DS07347,BMG_DS028014,UMLS ID:C0751505 | Insufficient Sleep Syndrome | MeSH ID:D012892 | Sleep Deprivation +BMGC_DS07348,BMG_DS028015,REM Sleep Deprivation | MeSH ID:D012892 | Sleep Deprivation | UMLS ID:C0751506 +BMGC_DS07349,BMG_DS028016,Sleep Wake Disorders | obsolete rare sleep disorder | MONDO:0019045 | UMLS ID:C0751510 | MeSH ID:D012893 | Sleep-Related Neurogenic Tachypnea +BMGC_DS07350,BMG_DS028017,Speech Disorders | UMLS ID:C0751514 | MeSH ID:D013064 | Verbal Fluency Disorders +BMGC_DS07351,BMG_DS028018,"UMLS ID:C0751522 | MeSH ID:D013226 | Status Epilepticus, Subclinical | Status Epilepticus" +BMGC_DS07352,BMG_DS028019,MeSH ID:D013226 | UMLS ID:C0751523 | Non-Convulsive Status Epilepticus | Status Epilepticus +BMGC_DS07353,BMG_DS028020,UMLS ID:C0751524 | MeSH ID:D013226 | Simple Partial Status Epilepticus | Status Epilepticus +BMGC_DS07354,BMG_DS028021,Strabismus | UMLS ID:C0751525 | Convergent Comitant Strabismus | MeSH ID:D013285 +BMGC_DS07355,BMG_DS028022,"UMLS ID:C0751526 | MeSH ID:D013285 | Strabismus | Strabismus, Noncomitant" +BMGC_DS07356,BMG_DS028023,UMLS ID:C0751527 | stuttering | DOID:0060243 +BMGC_DS07357,BMG_DS028024,UMLS ID:C0751528 | stuttering | DOID:0060243 +BMGC_DS07358,BMG_DS028025,stuttering | UMLS ID:C0751529 | 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,"UMLS ID:C0751539 | Syncope, Stokes-Adams | Syncope | MeSH ID:D013575" +BMGC_DS07362,BMG_DS028034,Tangier Disease | UMLS ID:C0751544 | MeSH ID:D013631 | Tangier Disease Neuropathy +BMGC_DS07363,BMG_DS028035,UMLS ID:C0751545 | Giant Cell Arteritis | Giant Cell Aortic Arteritis | MeSH ID:D013700 +BMGC_DS07364,BMG_DS028036,MONDO:0016848 | juvenile temporal arteritis | Giant Cell Arteritis | Juvenile Temporal Arteritis | MeSH ID:D013700 | UMLS ID:C0751547 +BMGC_DS07365,BMG_DS028040,DOID:3277 | UMLS ID:C0751552 | MONDO:0002586 | thymus cancer +BMGC_DS07366,BMG_DS028041,MeSH ID:D013981 | Tic Disorders | UMLS ID:C0751553 | Childhood Tic Disorders +BMGC_DS07367,BMG_DS028042,MeSH ID:D013981 | Motor Tic Disorders | UMLS ID:C0751554 | Tic Disorders +BMGC_DS07368,BMG_DS028043,UMLS ID:C0751559 | Pulsatile Tinnitus | Tinnitus | MeSH ID:D014012 +BMGC_DS07369,BMG_DS028044,UMLS ID:C0751560 | tonsil cancer | DOID:8858 | MONDO:0006998 +BMGC_DS07370,BMG_DS028047,MeSH ID:D014715 | Vertebrobasilar Insufficiency | UMLS ID:C0751572 | Vertebrobasilar Dolichoectasia +BMGC_DS07371,BMG_DS028051,"Encephalitis, West Nile Fever | UMLS ID:C0751583 | MeSH ID:D014901 | West Nile encephalitis | MONDO:0019376 | West-Nile encephalitis | West Nile Fever | DOID:2365" +BMGC_DS07372,BMG_DS028052,MeSH ID:D014901 | West Nile Fever | UMLS ID:C0751584 | West Nile Fever Meningitis +BMGC_DS07373,BMG_DS028053,MeSH ID:D014901 | UMLS ID:C0751585 | West Nile Fever | West Nile Fever Meningoencephalitis +BMGC_DS07374,BMG_DS028054,MeSH ID:D014901 | UMLS ID:C0751586 | West Nile Fever Myelitis | West Nile Fever +BMGC_DS07375,BMG_DS028055,cerebral arteriopathy with subcortical infarcts and leukoencephalopathy | CADASIL | UMLS ID:C0751587 | MONDO:0007432 | DOID:13945 +BMGC_DS07376,BMG_DS028056,UMLS ID:C0751589 | supratentorial cancer | DOID:1659 | MONDO:0002071 +BMGC_DS07377,BMG_DS028057,DOID:4706 | UMLS ID:C0751593 | infratentorial cancer | MONDO:0003107 +BMGC_DS07378,BMG_DS028058,UMLS ID:C0751594 | MeSH ID:D015211 | Zellweger Syndrome | Zellweger-Like Syndrome +BMGC_DS07379,BMG_DS028059,Pyruvate Dehydrogenase Complex Deficiency Disease | UMLS ID:C0751595 | Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease | MeSH ID:D015325 +BMGC_DS07380,BMG_DS028060,"Pyruvate Dehydrogenase Complex Deficiency Disease | MeSH ID:D015325 | UMLS ID:C0751596 | Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal" +BMGC_DS07381,BMG_DS028061,"Ataxia with Lactic Acidosis, Type I | Pyruvate Dehydrogenase Complex Deficiency Disease | MeSH ID:D015325 | UMLS ID:C0751597" +BMGC_DS07382,BMG_DS028062,"Hereditary Autosomal Dominant Spastic Paraplegia | MeSH ID:D015419 | UMLS ID:C0751602 | Spastic Paraplegia, Hereditary" +BMGC_DS07383,BMG_DS028063,"MeSH ID:D015419 | Autosomal Recessive Hereditary Spastic Paraplegia | UMLS ID:C0751603 | Spastic Paraplegia, Hereditary" +BMGC_DS07384,BMG_DS028064,"Hereditary X-Linked Recessive Spastic Paraplegia | MeSH ID:D015419 | UMLS ID:C0751604 | Spastic Paraplegia, Hereditary" +BMGC_DS07385,BMG_DS028065,"X-Linked, Spastic Paraplegia, Hereditary | UMLS ID:C0751605 | MeSH ID:D015419 | Spastic Paraplegia, Hereditary" +BMGC_DS07386,BMG_DS028066,MONDO:0003541 | adult acute lymphoblastic leukemia | adult acute lymphocytic leukemia | DOID:5604 | UMLS ID:C0751606 +BMGC_DS07387,BMG_DS028068,"Eosinophilia-Myalgia Syndrome | Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related | UMLS ID:C0751622 | MeSH ID:D016603" +BMGC_DS07388,BMG_DS028070,"Toxoplasmosis, Cerebral | MeSH ID:D016781 | Toxoplasmosis, Central Nervous System | UMLS ID:C0751629" +BMGC_DS07389,BMG_DS028071,"Intracranial Toxoplasmosis | MeSH ID:D016781 | Toxoplasmosis, Cerebral | UMLS ID:C0751630" +BMGC_DS07390,BMG_DS028072,"Toxoplasmosis, Cerebral | Neurotoxoplasmosis | UMLS ID:C0751631 | MeSH ID:D016781" +BMGC_DS07391,BMG_DS028073,Common Carotid Artery Stenosis | UMLS ID:C0751635 | Carotid Stenosis | MeSH ID:D016893 +BMGC_DS07392,BMG_DS028074,Carotid Stenosis | UMLS ID:C0751636 | External Carotid Artery Stenosis | MeSH ID:D016893 +BMGC_DS07393,BMG_DS028075,"DOID:0080159 | Meningitis, Cryptococcal | MeSH ID:D016919 | Cryptococcal meningitis | UMLS ID:C0751637 | Granulomous Cerebral Cryptococcosis" +BMGC_DS07394,BMG_DS028077,"UMLS ID:C0751640 | MeSH ID:D017029 | Epilepsy, Complex Partial | Cryptogenic Partial Complex Epilepsy" +BMGC_DS07395,BMG_DS028078,"UMLS ID:C0751641 | MeSH ID:D017029 | Epilepsy, Symptomatic, Partial Complex | Epilepsy, Complex Partial" +BMGC_DS07396,BMG_DS028079,"Epilepsy, Frontal Lobe | UMLS ID:C0751642 | Epilepsy, Anterior Fronto-Polar | MeSH ID:D017034" +BMGC_DS07397,BMG_DS028080,"UMLS ID:C0751643 | Epilepsy, Orbito-Frontal | Epilepsy, Frontal Lobe | MeSH ID:D017034" +BMGC_DS07398,BMG_DS028081,"MeSH ID:D017096 | Human Transmissible Spongiform Encephalopathies, Inherited | Prion Diseases | UMLS ID:C0751645" +BMGC_DS07399,BMG_DS028082,"UMLS ID:C0751647 | Pseudoakathisia | MeSH ID:D017109 | Akathisia, Drug-Induced" +BMGC_DS07400,BMG_DS028083,Mitochondrial Diseases | mitochondrial disease | UMLS ID:C0751651 | MeSH ID:D028361 | mitochondrial metabolism disease | DOID:700 | MONDO:0044970 +BMGC_DS07401,BMG_DS028088,"MeSH ID:D017772 | Amyloid Neuropathy, Secondary | Amyloid Neuropathies | UMLS ID:C0751660" +BMGC_DS07402,BMG_DS028089,"MeSH ID:D017825 | Canavan Disease | UMLS ID:C0751663 | Canavan Disease, Familial Form" +BMGC_DS07403,BMG_DS028090,"MeSH ID:D017825 | UMLS ID:C0751664 | Canavan Disease, Neonatal | Canavan Disease" +BMGC_DS07404,BMG_DS028091,"MeSH ID:D017825 | Canavan Disease | Canavan Disease, Sporadic Form | UMLS ID:C0751665" +BMGC_DS07405,BMG_DS028092,"MeSH ID:D017825 | UMLS ID:C0751666 | Canavan Disease, Infantile | Canavan Disease" +BMGC_DS07406,BMG_DS028093,"MeSH ID:D017825 | Canavan Disease | Canavan Disease, Juvenile | UMLS ID:C0751667" +BMGC_DS07407,BMG_DS028094,Machado-Joseph Disease | UMLS ID:C0751668 | MONDO:0017174 | MeSH ID:D017827 | Machado-Joseph Disease Type I | Machado-Joseph disease type 1 +BMGC_DS07408,BMG_DS028095,Machado-Joseph Disease | MONDO:0017175 | MeSH ID:D017827 | Machado-Joseph Disease Type II | Machado-Joseph disease type 2 | UMLS ID:C0751669 +BMGC_DS07409,BMG_DS028096,Machado-Joseph Disease | UMLS ID:C0751670 | MeSH ID:D017827 | Machado-Joseph disease type 3 | Machado-Joseph Disease Type III | MONDO:0017176 +BMGC_DS07410,BMG_DS028097,Machado-Joseph Disease | Machado-Joseph Disease Type IV | MeSH ID:D017827 | UMLS ID:C0751671 +BMGC_DS07411,BMG_DS028098,OMIM ID:606690 | UMLS ID:C0751674 | MONDO:0011705 | lymphangioleiomyomatosis +BMGC_DS07412,BMG_DS028099,UMLS ID:C0751675 | DOID:7398 | cerebral primitive neuroectodermal tumor | MONDO:0004209 +BMGC_DS07413,BMG_DS028100,DOID:1749 | UMLS ID:C0751688 | squamous cell carcinoma +BMGC_DS07414,BMG_DS028101,DOID:3193 | UMLS ID:C0751689 | peripheral nerve sheath neoplasm +BMGC_DS07415,BMG_DS028102,UMLS ID:C0751690 | malignant peripheral nerve sheath tumor | DOID:5940 | MONDO:0017827 +BMGC_DS07416,BMG_DS028103,MONDO:0019404 | perineurioma | UMLS ID:C0751691 | DOID:4697 +BMGC_DS07417,BMG_DS028104,Brown-Sequard Syndrome | MeSH ID:D018437 | UMLS ID:C0751693 | Brown-Sequard's Paralysis +BMGC_DS07418,BMG_DS028105,Brown-Sequard Syndrome | MeSH ID:D018437 | UMLS ID:C0751694 | Spastic Spinal Monoplegia Syndrome +BMGC_DS07419,BMG_DS028112,Tension-Type Headache | MeSH ID:D018781 | Tension-Vascular Headache | UMLS ID:C0751705 +BMGC_DS07420,BMG_DS028113,UMLS ID:C0751706 | progressive non-fluent aphasia | MONDO:0015059 +BMGC_DS07421,BMG_DS028114,"Peroxisomal Dysfunction, General | MeSH ID:D018901 | UMLS ID:C0751708 | Peroxisomal Disorders" +BMGC_DS07422,BMG_DS028115,"Peroxisomal Disorders | MeSH ID:D018901 | Peroxisomal Dysfunction, Multiple | UMLS ID:C0751709" +BMGC_DS07423,BMG_DS028116,"MeSH ID:D018901 | Peroxisomal Dysfunction, Single | UMLS ID:C0751710 | Peroxisomal Disorders" +BMGC_DS07424,BMG_DS028117,"anterior ischemic optic neuropathy | MeSH ID:D018917 | Anterior Ischemic Optic Neuropathy | Optic Neuropathy, Ischemic | MONDO:0006649 | UMLS ID:C0751711" +BMGC_DS07425,BMG_DS028118,"Optic Neuropathy, Ischemic | MeSH ID:D018917 | Posterior Ischemic Optic Neuropathy | UMLS ID:C0751712" +BMGC_DS07426,BMG_DS028119,"MeSH ID:D018979 | Myositis, Inclusion Body | Inclusion Body Myopathy, Sporadic | UMLS ID:C0751713" +BMGC_DS07427,BMG_DS028120,UMLS ID:C0751716 | Adult Neuroaxonal Dystrophy | MeSH ID:D019150 | Neuroaxonal Dystrophies +BMGC_DS07428,BMG_DS028121,UMLS ID:C0751717 | Juvenile Neuroaxonal Dystrophy | MeSH ID:D019150 | Neuroaxonal Dystrophies +BMGC_DS07429,BMG_DS028122,UMLS ID:C0751718 | Late Infantile Neuroaxonal Dystrophy | MeSH ID:D019150 | Neuroaxonal Dystrophies +BMGC_DS07430,BMG_DS028126,"UMLS ID:C0751729 | MeSH ID:D019575 | Blindness, Cortical | Blindness, Cortical, Post-Ictal" +BMGC_DS07431,BMG_DS028127,"MeSH ID:D019575 | Anton Syndrome | Blindness, Cortical | UMLS ID:C0751730" +BMGC_DS07432,BMG_DS028130,"Neurodegenerative Diseases | MeSH ID:D019636 | Degenerative Diseases, Spinal Cord | UMLS ID:C0751733" +BMGC_DS07433,BMG_DS028132,MeSH ID:D020144 | UMLS ID:C0751739 | basal ganglia cerebrovascular disease | basal ganglia cerebrovascular disorder | MONDO:0006505 | DOID:10991 | Basal Ganglia Cerebrovascular Disease +BMGC_DS07434,BMG_DS028133,UMLS ID:C0751740 | Lenticulostriate Vasculopathy | MeSH ID:D020144 | Basal Ganglia Cerebrovascular Disease +BMGC_DS07435,BMG_DS028134,"Brain Diseases, Metabolic | UMLS ID:C0751743 | MeSH ID:D001928 | Metabolic Disorder, Central Nervous System, Acquired" +BMGC_DS07436,BMG_DS028135,"Brain Diseases, Metabolic, Acquired | UMLS ID:C0751744 | MeSH ID:D001928 | Brain Diseases, Metabolic" +BMGC_DS07437,BMG_DS028137,"Hyperglycinemia, Nonketotic, Type III | UMLS ID:C0751747 | MeSH ID:D020158 | Hyperglycinemia, Nonketotic" +BMGC_DS07438,BMG_DS028138,"UMLS ID:C0751748 | Nonketotic Hyperglycinemia | MeSH ID:D020158 | DOID:9268 | Hyperglycinemia, Nonketotic | glycine encephalopathy | MONDO:0011612" +BMGC_DS07439,BMG_DS028139,"Citrullinemia | UMLS ID:C0751750 | MeSH ID:D020159 | Argininosuccinic Acid Synthetase Deficiency Disease, Partial" +BMGC_DS07440,BMG_DS028140,"Argininosuccinic Acid Synthetase Deficiency, Complete | UMLS ID:C0751751 | Citrullinemia | MeSH ID:D020159" +BMGC_DS07441,BMG_DS028141,DOID:9280 | Carbamoyl-Phosphate Synthase I Deficiency Disease | UMLS ID:C0751753 | MeSH ID:D020165 | carbamoyl phosphate synthetase I deficiency disease +BMGC_DS07442,BMG_DS028143,"MeSH ID:D020178 | Advanced Sleep Phase Syndrome | Sleep Disorders, Circadian Rhythm | circadian rhythm sleep disorder, advanced sleep phase type | MONDO:0024378 | UMLS ID:C0751758" +BMGC_DS07443,BMG_DS028145,"Upper Airway Resistance Sleep Apnea Syndrome | Sleep Apnea, Obstructive | UMLS ID:C0751761 | MeSH ID:D020181" +BMGC_DS07444,BMG_DS028146,"MONDO:0024356 | Sleep Apnea, Central | Central Sleep Apnea, Primary | primary central sleep apnea syndrome | UMLS ID:C0751762 | MeSH ID:D020182" +BMGC_DS07445,BMG_DS028147,"UMLS ID:C0751763 | MeSH ID:D020182 | Central Sleep Apnea, Secondary | Sleep Apnea, Central" +BMGC_DS07446,BMG_DS028151,REM sleep behavior disorder | DOID:9091 | MONDO:0005937 | UMLS ID:C0751772 +BMGC_DS07447,BMG_DS028152,MONDO:0005905 | periodic limb movement disorder | MeSH ID:D020189 | DOID:9207 | UMLS ID:C0751774 | Nocturnal Myoclonus Syndrome +BMGC_DS07448,BMG_DS028153,"UMLS ID:C0751776 | Atypical Inclusion-Body Disease | Myoclonic Epilepsies, Progressive | MeSH ID:D020191" +BMGC_DS07449,BMG_DS028154,"UMLS ID:C0751777 | Familial Progressive Myoclonic Epilepsy | MeSH ID:D020191 | Myoclonic Epilepsies, Progressive" +BMGC_DS07450,BMG_DS028155,"Myoclonic Epilepsies, Progressive | MONDO:0020074 | UMLS ID:C0751778 | progressive myoclonus epilepsy | DOID:891 | MeSH ID:D020191" +BMGC_DS07451,BMG_DS028156,"Myoclonic Epilepsies, Progressive | MONDO:0009699 | OMIM ID:254900 | Action Myoclonus-Renal Failure Syndrome | UMLS ID:C0751779 | action myoclonus-renal failure syndrome | DOID:0111444 | progressive myoclonus epilepsy 4 | MeSH ID:D020191" +BMGC_DS07452,BMG_DS028157,"Biotin-Responsive Encephalopathy | UMLS ID:C0751780 | MeSH ID:D020191 | Myoclonic Epilepsies, Progressive" +BMGC_DS07453,BMG_DS028158,"UMLS ID:C0751781 | Myoclonic Epilepsies, Progressive | dentatorubral-pallidoluysian atrophy | Dentatorubral-Pallidoluysian Atrophy | DOID:0060162 | OMIM ID:125370 | MONDO:0007435 | MeSH ID:D020191" +BMGC_DS07454,BMG_DS028159,"Myoclonic Epilepsies, Progressive | May-White Syndrome | UMLS ID:C0751782 | MeSH ID:D020191" +BMGC_DS07455,BMG_DS028160,MONDO:0009697 | UMLS ID:C0751783 | MeSH ID:D020192 | DOID:3534 | Lafora disease | Lafora Disease +BMGC_DS07456,BMG_DS028161,"UMLS ID:C0751784 | MeSH ID:D020192 | Lafora Disease | Lafora Body Disease, Late Onset" +BMGC_DS07457,BMG_DS028162,Unverricht-Lundborg syndrome | UMLS ID:C0751785 | DOID:3535 | Unverricht-Lundborg Syndrome | MeSH ID:D020194 | OMIM ID:254800 | MONDO:0009698 +BMGC_DS07458,BMG_DS028163,"Epilepsy, Reflex | UMLS ID:C0751786 | Decision Making Reflex Epilepsy | MeSH ID:D020195" +BMGC_DS07459,BMG_DS028164,"Reflex Epilepsy, Eating-Induced | MeSH ID:D020195 | Epilepsy, Reflex | UMLS ID:C0751787" +BMGC_DS07460,BMG_DS028165,"Reflex Epilepsy, Visual Pattern | Epilepsy, Reflex | UMLS ID:C0751788 | MeSH ID:D020195" +BMGC_DS07461,BMG_DS028166,"Epilepsy, Reflex | MeSH ID:D020195 | Tactile Reflex Epilepsy | UMLS ID:C0751789" +BMGC_DS07462,BMG_DS028167,"Epilepsy, Reflex | MeSH ID:D020195 | Writing-Induced Reflex Epilepsy | UMLS ID:C0751790" +BMGC_DS07463,BMG_DS028168,"audiogenic seizures | MeSH ID:D020195 | Reflex Epilepsy, Audiogenic | Epilepsy, Reflex | MONDO:0015644 | UMLS ID:C0751791" +BMGC_DS07464,BMG_DS028169,"UMLS ID:C0751812 | MeSH ID:D020207 | Coma, Post-Head Injury | Coma, Post-Traumatic, Prolonged" +BMGC_DS07465,BMG_DS028170,"Carotid Artery, Internal, Dissection | MeSH ID:D020215 | UMLS ID:C0751815" +BMGC_DS07466,BMG_DS028173,"UMLS ID:C0751823 | Septic Phlebitis, Sagittal Sinus | Sagittal Sinus Thrombosis | MeSH ID:D020225" +BMGC_DS07467,BMG_DS028174,MeSH ID:D020225 | Sagittal Sinus Thrombosis | UMLS ID:C0751824 | Sagittal Sinus Thrombophlebitis +BMGC_DS07468,BMG_DS028175,"Septic Phlebitis, Cavernous Sinus | Cavernous Sinus Thrombosis | MeSH ID:D020226 | UMLS ID:C0751825" +BMGC_DS07469,BMG_DS028178,"Gait Disorder, Sensorimotor | Gait Disorders, Neurologic | MeSH ID:D020233 | UMLS ID:C0751829" +BMGC_DS07470,BMG_DS028179,"Gait Disorders, Neurologic | UMLS ID:C0751830 | MeSH ID:D020233" +BMGC_DS07471,BMG_DS028183,"UMLS ID:C0751843 | MONDO:0006647 | anterior cerebral artery infarction | Infarction, Anterior Cerebral Artery | DOID:3528 | MeSH ID:D020243" +BMGC_DS07472,BMG_DS028185,"MeSH ID:D020244 | Infarction, Middle Cerebral Artery | UMLS ID:C0751845 | Middle Cerebral Artery Embolus" +BMGC_DS07473,BMG_DS028186,"MeSH ID:D020244 | Left Middle Cerebral Artery Infarction | Infarction, Middle Cerebral Artery | UMLS ID:C0751846" +BMGC_DS07474,BMG_DS028187,"MeSH ID:D020244 | Embolic Infarction, Middle Cerebral Artery | Infarction, Middle Cerebral Artery | UMLS ID:C0751847" +BMGC_DS07475,BMG_DS028188,"MeSH ID:D020244 | Thrombotic Infarction, Middle Cerebral Artery | UMLS ID:C0751848 | Infarction, Middle Cerebral Artery" +BMGC_DS07476,BMG_DS028189,"UMLS ID:C0751849 | Right Middle Cerebral Artery Infarction | MeSH ID:D020244 | Infarction, Middle Cerebral Artery" +BMGC_DS07477,BMG_DS028190,UMLS ID:C0751851 | MeSH ID:D020261 | Arsenic Encephalopathy | Arsenic Poisoning +BMGC_DS07478,BMG_DS028191,"UMLS ID:C0751857 | Mercury Poisoning, Nervous System | MeSH ID:D020262 | Mercurial Neuroanesthenia" +BMGC_DS07479,BMG_DS028192,"MeSH ID:D020264 | Lead Poisoning, Nervous System, Childhood | UMLS ID:C0751860 | Lead Encephalopathy, Childhood" +BMGC_DS07480,BMG_DS028193,"Lead Polyneuropathy | UMLS ID:C0751862 | MeSH ID:D020265 | Lead Poisoning, Nervous System, Adult" +BMGC_DS07481,BMG_DS028194,UMLS ID:C0751864 | MPTP-Induced Degeneration of the Striatum | MeSH ID:D020267 | MPTP Poisoning +BMGC_DS07482,BMG_DS028195,"MeSH ID:D020268 | UMLS ID:C0751865 | Alcohol-Induced Disorders, Nervous System" +BMGC_DS07483,BMG_DS028197,Alcohol Withdrawal-Induced Major Motor Seizure | UMLS ID:C0751868 | MeSH ID:D020270 | Alcohol Withdrawal Seizures +BMGC_DS07484,BMG_DS028198,"UMLS ID:C0751869 | MeSH ID:D020270 | Status Epilepticus, Alcohol Withdrawal-Induced | Alcohol Withdrawal Seizures" +BMGC_DS07485,BMG_DS028199,"Heredodegenerative Disorders, Nervous System | MeSH ID:D020271 | UMLS ID:C0751870" +BMGC_DS07486,BMG_DS028200,MONDO:0002977 | Autoimmune Diseases of the Nervous System | autoimmune disease of the nervous system | autoimmune disorder of the nervous system | UMLS ID:C0751871 | DOID:438 | MeSH ID:D020274 +BMGC_DS07487,BMG_DS028201,"UMLS ID:C0751872 | MeSH ID:D020274 | Autoimmune Diseases of the Nervous System | Immune Disorders, Nervous System" +BMGC_DS07488,BMG_DS028206,"DOID:525 | MONDO:0003346 | MeSH ID:D020293 | central nervous system vasculitis | Vasculitis, Central Nervous System | UMLS ID:C0751878" +BMGC_DS07489,BMG_DS028207,"UMLS ID:C0751879 | Secondary CNS Vasculitis | Vasculitis, Central Nervous System | MeSH ID:D020293" +BMGC_DS07490,BMG_DS028208,"UMLS ID:C0751880 | Vasculitis, Central Nervous System | Postzoster Arteritis | MeSH ID:D020293" +BMGC_DS07491,BMG_DS028209,"Primary CNS Vasculitis | Vasculitis, Central Nervous System | MeSH ID:D020293 | UMLS ID:C0751881" +BMGC_DS07492,BMG_DS028210,"DOID:3635 | MeSH ID:D020294 | congenital myasthenic syndrome | MONDO:0018940 | UMLS ID:C0751882 | Myasthenic Syndromes, Congenital" +BMGC_DS07493,BMG_DS028211,"Congenital Myasthenic Syndromes, Postsynaptic | UMLS ID:C0751883 | postsynaptic congenital myasthenic syndrome | Myasthenic Syndromes, Congenital | MeSH ID:D020294 | MONDO:0020344" +BMGC_DS07494,BMG_DS028212,"MeSH ID:D020294 | UMLS ID:C0751884 | Congenital Myasthenic Syndromes, Presynaptic | Myasthenic Syndromes, Congenital" +BMGC_DS07495,BMG_DS028213,"Myasthenic Syndromes, Congenital, Slow Channel | Myasthenic Syndromes, Congenital | MeSH ID:D020294 | UMLS ID:C0751885" +BMGC_DS07496,BMG_DS028214,UMLS ID:C0751886 | DOID:4203 | brain stem cancer +BMGC_DS07497,BMG_DS028215,"DOID:13100 | Vasospasm, Intracranial | intracranial vasospasm | MONDO:0006812 | MeSH ID:D020301 | UMLS ID:C0751895" +BMGC_DS07498,BMG_DS028216,MeSH ID:D020325 | Migraine with Aura | UMLS ID:C0751904 | Migraine with Acute Onset Aura +BMGC_DS07499,BMG_DS028218,Vestibular Neuronitis | UMLS ID:C0751907 | MeSH ID:D020338 | Subacute Vestibular Neuritis +BMGC_DS07500,BMG_DS028219,Vestibular Neuronitis | UMLS ID:C0751908 | vestibular neuronitis | DOID:12683 | MeSH ID:D020338 | MONDO:0006008 +BMGC_DS07501,BMG_DS028220,Vestibular Neuropathy | Vestibular Neuronitis | MeSH ID:D020338 | UMLS ID:C0751909 +BMGC_DS07502,BMG_DS028224,UMLS ID:C0751914 | Pelizaeus-Merzbacher Disease | Adult Pelizaeus-Merzbacher Disease | MeSH ID:D020371 +BMGC_DS07503,BMG_DS028225,"MeSH ID:D020371 | Pelizaeus-Merzbacher Disease, Atypical | Pelizaeus-Merzbacher Disease | UMLS ID:C0751915" +BMGC_DS07504,BMG_DS028226,"UMLS ID:C0751916 | Pelizaeus-Merzbacher Disease | Classic Pelizaeus-Merzbacher Disease | MONDO:0017222 | Pelizaeus-Merzbacher disease, classic form | MeSH ID:D020371" +BMGC_DS07505,BMG_DS028227,"MONDO:0017223 | Pelizaeus-Merzbacher Disease, Transitional | Pelizaeus-Merzbacher Disease | UMLS ID:C0751917 | Pelizaeus-Merzbacher disease, transitional form | MeSH ID:D020371" +BMGC_DS07506,BMG_DS028228,MeSH ID:D020371 | Cockayne-Pelizaeus-Merzbacher Disease | UMLS ID:C0751918 | Pelizaeus-Merzbacher Disease +BMGC_DS07507,BMG_DS028229,MeSH ID:D020386 | Isaacs Syndrome | UMLS ID:C0751919 | Acquired Neuromyotonia +BMGC_DS07508,BMG_DS028230,"Median Neuropathy | UMLS ID:C0751920 | MeSH ID:D020423 | Medial Neuropathy, Distal" +BMGC_DS07509,BMG_DS028231,Median Neuropathy | MeSH ID:D020423 | UMLS ID:C0751922 | median nerve neuropathy | MONDO:0003598 +BMGC_DS07510,BMG_DS028232,"Sciatic Neuropathy | Neuralgia-Neuritis, Sciatic Nerve | MeSH ID:D020426 | UMLS ID:C0751924" +BMGC_DS07511,BMG_DS028233,UMLS ID:C0751925 | Sciatic Neuropathy | Sciatic Nerve Palsy | MeSH ID:D020426 +BMGC_DS07512,BMG_DS028234,"MeSH ID:D020427 | Neuropathy, Common Peroneal | UMLS ID:C0751926 | Peroneal Neuropathies" +BMGC_DS07513,BMG_DS028235,Fibular Neuropathy | Peroneal Neuropathies | MeSH ID:D020427 | UMLS ID:C0751927 +BMGC_DS07514,BMG_DS028236,"UMLS ID:C0751928 | Neuropathy, Deep Peroneal | MeSH ID:D020427 | Peroneal Neuropathies" +BMGC_DS07515,BMG_DS028237,"MeSH ID:D020427 | UMLS ID:C0751929 | Neuropathy, Superficial Peroneal | Peroneal Neuropathies" +BMGC_DS07516,BMG_DS028238,UMLS ID:C0751930 | Femoral Neuropathy | Femoral Neuritis | MeSH ID:D020428 +BMGC_DS07517,BMG_DS028239,MeSH ID:D020428 | MONDO:0006759 | UMLS ID:C0751931 | Femoral Neuropathy | DOID:4196 | femoral neuropathy +BMGC_DS07518,BMG_DS028240,Tibial Neuropathy | DOID:1187 | tibial neuropathy | UMLS ID:C0751932 | MeSH ID:D020429 | MONDO:0006997 +BMGC_DS07519,BMG_DS028245,DOID:367 | MONDO:0002727 | olfactory nerve disorder | olfactory nerve disease | UMLS ID:C0751937 +BMGC_DS07520,BMG_DS028246,"Superior Oblique Palsy, Neurogenic | MeSH ID:D020432 | Trochlear Nerve Diseases | DOID:13864 | UMLS ID:C0751939 | trochlear nerve disease" +BMGC_DS07521,BMG_DS028247,"UMLS ID:C0751940 | Abducens Nerve Diseases | Abducens Palsy, Childhood, Benign Recurrent | MeSH ID:D020434" +BMGC_DS07522,BMG_DS028249,UMLS ID:C0751942 | MeSH ID:D020435 | Glossopharyngeal Nerve Diseases | glossopharyngeal motor neuropathy | Glossopharyngeal Motor Neuropathy | DOID:7558 | MONDO:0004279 +BMGC_DS07523,BMG_DS028252,Hypoglossal Nerve Diseases | Hypoglossal Neuropathy | MeSH ID:D020437 | UMLS ID:C0751945 +BMGC_DS07524,BMG_DS028253,"Parasomnias | UMLS ID:C0751946 | Neonatal Sleep Myoclonus, Benign | MeSH ID:D020447" +BMGC_DS07525,BMG_DS028254,Parasomnias | MeSH ID:D020447 | Sleep-Related Abnormal Swallowing Syndrome | UMLS ID:C0751948 +BMGC_DS07526,BMG_DS028255,MONDO:0020124 | UMLS ID:C0751950 | DOID:439 | MeSH ID:D020511 | Neuromuscular Junction Diseases | neuromuscular junction disease +BMGC_DS07527,BMG_DS028256,"UMLS ID:C0751951 | MeSH ID:D020512 | DOID:3529 | Myopathy, Central Core | congenital myopathy 1A" +BMGC_DS07528,BMG_DS028257,Anterior Circulation Brain Infarction | MeSH ID:D020520 | UMLS ID:C0751952 | Brain Infarction +BMGC_DS07529,BMG_DS028258,"Brain Infarction | MeSH ID:D020520 | UMLS ID:C0751953 | Brain Infarction, Posterior Circulation" +BMGC_DS07530,BMG_DS028259,"MeSH ID:D020520 | UMLS ID:C0751954 | Brain Infarction | Venous Infarction, Brain" +BMGC_DS07531,BMG_DS028260,UMLS ID:C0751955 | Brain Infarction | MONDO:0005394 | brain infarction | MeSH ID:D020520 | DOID:3454 +BMGC_DS07532,BMG_DS028261,UMLS ID:C0751956 | MeSH ID:D020521 | Acute Cerebrovascular Accidents | Stroke +BMGC_DS07533,BMG_DS028262,"Lymphoma, Mantle-Cell | Lymphoma, Lymphocytic, Intermediate | UMLS ID:C0751958 | DOID:0050746 | mantle cell lymphoma | MeSH ID:D020522" +BMGC_DS07534,BMG_DS028263,Millard-Gublar Syndrome | Brain Stem Infarctions | UMLS ID:C0751963 | MeSH ID:D020526 +BMGC_DS07535,BMG_DS028264,"MONDO:0000451 | MeSH ID:D020528 | UMLS ID:C0751964 | Multiple Sclerosis, Primary Progressive | Multiple Sclerosis, Chronic Progressive | primary progressive multiple sclerosis | DOID:0050784" +BMGC_DS07536,BMG_DS028265,"MeSH ID:D020528 | DOID:0050783 | MONDO:0000450 | Multiple Sclerosis, Secondary Progressive | UMLS ID:C0751965 | secondary progressive multiple sclerosis | Multiple Sclerosis, Chronic Progressive" +BMGC_DS07537,BMG_DS028266,"UMLS ID:C0751967 | Multiple Sclerosis, Relapsing-Remitting | relapsing-remitting multiple sclerosis | DOID:2378 | MONDO:0005314 | MeSH ID:D020529" +BMGC_DS07538,BMG_DS028267,MeSH ID:D020642 | UMLS ID:C0752048 | Acatalasia | Hypocatalasemia +BMGC_DS07539,BMG_DS028268,Autosomal Dominant Juvenile Parkinson Disease | UMLS ID:C0752097 | MeSH ID:D020734 | Parkinsonian Disorders +BMGC_DS07540,BMG_DS028269,Parkinsonian Disorders | MeSH ID:D020734 | Autosomal Dominant Parkinsonism | UMLS ID:C0752098 +BMGC_DS07541,BMG_DS028270,UMLS ID:C0752100 | MeSH ID:D020734 | Autosomal Recessive Parkinsonism | Parkinsonian Disorders +BMGC_DS07542,BMG_DS028271,Parkinsonian Disorders | Familial Juvenile Parkinsonism | UMLS ID:C0752104 | MeSH ID:D020734 +BMGC_DS07543,BMG_DS028272,"UMLS ID:C0752105 | juvenile-onset Parkinson disease | MeSH ID:D020734 | MONDO:0000828 | Parkinsonian Disorders | Parkinsonism, Juvenile" +BMGC_DS07544,BMG_DS028273,"Brain Diseases, Metabolic, Inborn | UMLS ID:C0752107 | Brain Diseases, Metabolic, Inherited | MeSH ID:D020739" +BMGC_DS07545,BMG_DS028274,"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,MeSH ID:D020754 | Spinocerebellar Ataxia Type 1 | spinocerebellar ataxia type 1 | MONDO:0008119 | OMIM ID:164400 | Spinocerebellar Ataxias | UMLS ID:C0752120 +BMGC_DS07548,BMG_DS028277,MeSH ID:D020754 | spinocerebellar ataxia type 2 | MONDO:0008458 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxias | UMLS ID:C0752121 | OMIM ID:183090 +BMGC_DS07549,BMG_DS028278,Spinocerebellar Ataxia Type 4 | OMIM ID:600223 | MeSH ID:D020754 | DOID:0050957 | spinocerebellar ataxia type 4 | Spinocerebellar Ataxias | UMLS ID:C0752122 | MONDO:0010847 +BMGC_DS07550,BMG_DS028279,MONDO:0010848 | MeSH ID:D020754 | UMLS ID:C0752123 | spinocerebellar ataxia type 5 | OMIM ID:600224 | Spinocerebellar Ataxias | Spinocerebellar Ataxia Type 5 +BMGC_DS07551,BMG_DS028280,UMLS ID:C0752124 | spinocerebellar ataxia type 6 | MONDO:0008457 | OMIM ID:183086 +BMGC_DS07552,BMG_DS028281,MeSH ID:D020754 | autosomal dominant cerebellar ataxia type II | OMIM ID:164500 | Spinocerebellar Ataxias | Spinocerebellar Ataxia Type 7 | UMLS ID:C0752125 | MONDO:0016163 +BMGC_DS07553,BMG_DS028282,Spinal Cord Vascular Diseases | vascular disease | MeSH ID:D020758 | UMLS ID:C0752127 | DOID:178 +BMGC_DS07554,BMG_DS028283,UMLS ID:C0752128 | MeSH ID:D020758 | Spinal Cord Vascular Diseases | Posterior Spinal Artery Syndrome +BMGC_DS07555,BMG_DS028284,spinal cord ischemia | vascular disease | Spinal Cord Ischemia | DOID:178 | UMLS ID:C0752130 | MONDO:0020688 | MeSH ID:D020760 +BMGC_DS07556,BMG_DS028285,"DOID:3821 | MeSH ID:D020762 | UMLS ID:C0752132 | Infarction, Posterior Cerebral Artery | MONDO:0006917 | posterior cerebral artery infarction" +BMGC_DS07557,BMG_DS028286,"Infarction, Posterior Cerebral Artery | UMLS ID:C0752133 | MeSH ID:D020762 | Embolic Infarction, Posterior Cerebral Artery" +BMGC_DS07558,BMG_DS028287,"MeSH ID:D020762 | UMLS ID:C0752134 | Infarction, Posterior Cerebral Artery | Thrombotic Infarction, Posterior Cerebral Artery" +BMGC_DS07559,BMG_DS028288,"Intracranial Arterial Diseases | UMLS ID:C0752137 | MeSH ID:D020765 | Brain Diseases, Arterial" +BMGC_DS07560,BMG_DS028289,MONDO:0006808 | Intracranial Arterial Diseases | intracranial arterial disease | UMLS ID:C0752138 | MeSH ID:D020765 | DOID:13089 +BMGC_DS07561,BMG_DS028290,intracranial embolism | MeSH ID:D020766 | UMLS ID:C0752140 | Intracranial Embolism | MONDO:0006809 | DOID:4372 +BMGC_DS07562,BMG_DS028291,MONDO:0002907 | UMLS ID:C0752143 | MeSH ID:D020767 | DOID:4193 | intracranial thrombosis | Intracranial Thrombosis +BMGC_DS07563,BMG_DS028292,Intracranial Thrombosis | MeSH ID:D020767 | Brain Thrombosis | UMLS ID:C0752144 +BMGC_DS07564,BMG_DS028294,Headache Disorders | MeSH ID:D020773 | UMLS ID:C0752147 | Chronic Daily Headache +BMGC_DS07565,BMG_DS028295,"Headache, Intractable | Headache Disorders | MeSH ID:D020773 | UMLS ID:C0752149" +BMGC_DS07566,BMG_DS028296,"UMLS ID:C0752150 | MONDO:0017181 | Headache Disorders, Primary | Hypnic Headache | MeSH ID:D051270 | hypnic headache" +BMGC_DS07567,BMG_DS028298,DOID:1935 | MeSH ID:D020788 | Bardet-Biedl Syndrome | UMLS ID:C0752166 | Bardet-Biedl syndrome | MONDO:0015229 +BMGC_DS07568,BMG_DS028306,UMLS ID:C0752191 | DOID:13722 | MeSH ID:D020818 | SNOMEDCT ID:1177012000 | Infection of nervous system caused by Schistosoma (disorder) | neuroschistosomiasis | Neuroschistosomiasis | Infection of nervous system caused by Schistosoma | MONDO:0005874 +BMGC_DS07569,BMG_DS028311,UMLS ID:C0752196 | Ballism (disorder) | MeSH ID:D020820 | Ballismus | SNOMEDCT ID:426592006 | Dyskinesias | OMIM ID:MTHU055453 | Ballism +BMGC_DS07570,BMG_DS028312,Dystonic Disorders | Adult-Onset Dystonias | MeSH ID:D020821 | UMLS ID:C0752197 +BMGC_DS07571,BMG_DS028313,Adult-Onset Idiopathic Focal Dystonias | UMLS ID:C0752198 | MeSH ID:D020821 | Dystonic Disorders +BMGC_DS07572,BMG_DS028314,Adult-Onset Idiopathic Torsion Dystonias | MeSH ID:D020821 | UMLS ID:C0752199 | Dystonic Disorders +BMGC_DS07573,BMG_DS028315,Dystonic Disorders | UMLS ID:C0752200 | MeSH ID:D020821 | Autosomal Dominant Familial Dystonia +BMGC_DS07574,BMG_DS028316,Dystonic Disorders | MeSH ID:D020821 | Autosomal Recessive Familial Dystonia | UMLS ID:C0752201 +BMGC_DS07575,BMG_DS028317,UMLS ID:C0752202 | MeSH ID:D020821 | Dystonic Disorders | Childhood Onset Dystonias +BMGC_DS07576,BMG_DS028318,"Dystonic Disorders | Dystonia, Primary | MeSH ID:D020821 | UMLS ID:C0752203" +BMGC_DS07577,BMG_DS028319,"Dystonia, Secondary | UMLS ID:C0752205 | MeSH ID:D020821 | Dystonic Disorders" +BMGC_DS07578,BMG_DS028320,"UMLS ID:C0752206 | Dystonias, Sporadic | MeSH ID:D020821 | Dystonic Disorders" +BMGC_DS07579,BMG_DS028321,Familial Dystonia | MeSH ID:D020821 | DOID:0050835 | UMLS ID:C0752207 | generalized dystonia | Dystonic Disorders +BMGC_DS07580,BMG_DS028322,psychogenic movement disorders | MONDO:0019114 | UMLS ID:C0752208 | MeSH ID:D020821 | Pseudodystonia | Dystonic Disorders +BMGC_DS07581,BMG_DS028323,"UMLS ID:C0752210 | Chorea | paroxysmal dyskinesia | MONDO:0015427 | MeSH ID:D002819 | Dyskinesias, Paroxysmal" +BMGC_DS07582,BMG_DS028326,MeSH ID:D020852 | UMLS ID:C0752235 | DOID:11729 | Lyme Neuroborreliosis | Lyme disease +BMGC_DS07583,BMG_DS028333,Position Sense Disorders | MeSH ID:D020886 | UMLS ID:C0752258 | Somatosensory Disorders +BMGC_DS07584,BMG_DS028334,MeSH ID:D020886 | Thermal Sensation Disorders | UMLS ID:C0752261 | Somatosensory Disorders +BMGC_DS07585,BMG_DS028335,MeSH ID:D020886 | UMLS ID:C0752262 | Somatosensory Disorders +BMGC_DS07586,BMG_DS028336,"Congenital Structural Myopathy | Myopathies, Structural, Congenital | UMLS ID:C0752282 | MONDO:0002921 | DOID:422 | congenital structural myopathy | MeSH ID:D020914" +BMGC_DS07587,BMG_DS028339,Dyssomnias | Environmental Sleep Disorder | UMLS ID:C0752289 | MeSH ID:D020920 +BMGC_DS07588,BMG_DS028340,"Sleep Disorders, Extrinsic | Dyssomnias | UMLS ID:C0752293 | MeSH ID:D020920" +BMGC_DS07589,BMG_DS028348,"MeSH ID:D020925 | Hypoxia-Ischemia, Brain | Hypoxic-Ischemic Encephalopathy | UMLS ID:C0752304" +BMGC_DS07590,BMG_DS028349,"Anoxic-Ischemic Encephalopathy | Hypoxia-Ischemia, Brain | MeSH ID:D020925 | UMLS ID:C0752305" +BMGC_DS07591,BMG_DS028350,"Anoxia-Ischemia, Brain | Hypoxia-Ischemia, Brain | UMLS ID:C0752306 | MeSH ID:D020925" +BMGC_DS07592,BMG_DS028351,"Anoxia-Ischemia, Cerebral | Hypoxia-Ischemia, Brain | MeSH ID:D020925 | UMLS ID:C0752307" +BMGC_DS07593,BMG_DS028352,"MeSH ID:D020925 | MONDO:0006685 | brain hypoxia - ischemia | Hypoxia-Ischemia, Brain | UMLS ID:C0752308" +BMGC_DS07594,BMG_DS028353,"DOID:3330 | Epilepsy, Partial, Sensory | MeSH ID:D020937 | partial sensory epilepsy | UMLS ID:C0752322" +BMGC_DS07595,BMG_DS028354,"Focal Clonic Seizures | Epilepsy, Partial, Motor | UMLS ID:C0752323 | MeSH ID:D020938" +BMGC_DS07596,BMG_DS028361,"central nervous system lupus | MONDO:0043985 | MeSH ID:D020945 | Lupus Vasculitis, Central Nervous System | UMLS ID:C0752332" +BMGC_DS07597,BMG_DS028362,"Lupus Meningoencephalitis | Lupus Vasculitis, Central Nervous System | MeSH ID:D020945 | UMLS ID:C0752334" +BMGC_DS07598,BMG_DS028363,"UMLS ID:C0752335 | MeSH ID:D020945 | Lupus Vasculitis, Central Nervous System | Neuropsychiatric Systemic Lupus Erythematosus" +BMGC_DS07599,BMG_DS028365,UMLS ID:C0752342 | DOID:13565 | Neuroaspergillosis | MeSH ID:D020953 | neuroaspergillosis | MONDO:0005873 +BMGC_DS07600,BMG_DS028366,UMLS ID:C0752347 | MONDO:0007488 | Lewy Body Disease | MeSH ID:D020961 | DOID:12217 | Lewy body dementia | OMIM ID:127750 +BMGC_DS07601,BMG_DS028367,"UMLS ID:C0752352 | MONDO:0004714 | Muscular Disorders, Atrophic | DOID:913 | atrophic muscular disease | MeSH ID:D020966" +BMGC_DS07602,BMG_DS028369,MONDO:0020481 | myotonia fluctuans | UMLS ID:C0752355 +BMGC_DS07603,BMG_DS028373,UMLS ID:C0795687 | Cerebral arterial thrombosis (disorder) | Cerebral thrombosis | SNOMEDCT ID:71444005 | CT - Cerebral thrombosis | Thrombosis of cerebral arteries | Cerebral arterial thrombosis +BMGC_DS07604,BMG_DS028374,UMLS ID:C0795690 | umbilical hernia | omphalocele | MONDO:0019015 | DOID:0060327;DOID:0060321 +BMGC_DS07605,BMG_DS028391,Recombinant chromosome 8 syndrome (disorder) | MONDO:0008365 | MeSH ID:C535296 | UMLS ID:C0795822 | San Luis Valley syndrome | Recombinant chromosome 8 syndrome | OMIM ID:179613 | SNOMEDCT ID:718189004 | recombinant 8 syndrome +BMGC_DS07606,BMG_DS028396,UMLS ID:C0795830 | MONDO:0008013 | CHROMOSOME 9p DELETION SYNDROME | chromosome 9p deletion syndrome | OMIM ID:158170 +BMGC_DS07607,BMG_DS028398,Kleefstra syndrome 1 | OMIM ID:610253 | DOID:0060352 | KLEEFSTRA SYNDROME 1 | MONDO:0027407 | OMIM ID:607001 | UMLS ID:C0795833 +BMGC_DS07608,BMG_DS028403,Jacobsen Distal 11q Deletion Syndrome | MeSH ID:D054868 | Jacobsen Syndrome | OMIM ID:147791 | UMLS ID:C0795841 | DOID:0111723 | Jacobsen syndrome | MONDO:0007838 +BMGC_DS07609,BMG_DS028416,ICD10 ID:Q93.88 | UMLS ID:C0795864 | OMIM ID:182290 | MONDO:0008434 | Smith-Magenis syndrome (disorder) | Smith-Magenis syndrome | SNOMEDCT ID:401315004 +BMGC_DS07610,BMG_DS028426,"autism, susceptibility to, X-linked 4 | OMIM ID:300830 | MONDO:0010440 | UMLS ID:C0795888" +BMGC_DS07611,BMG_DS028427,UMLS ID:C0795889 | OMIM ID:300523 | MONDO:0010354 | Allan-Herndon-Dudley syndrome +BMGC_DS07612,BMG_DS028429,alopecia - contractures - dwarfism - intellectual disability syndrome | OMIM ID:203550 | MONDO:0008754 | UMLS ID:C0795895 | MeSH ID:C537051 | Alopecia contractures dwarfism mental retardation +BMGC_DS07613,BMG_DS028430,UMLS ID:C0795898 | MONDO:0007337 | cleft palate-lateral synechia syndrome | DOID:0080313 | OMIM ID:119550 | Cleft Palate-Lateral Synechia Syndrome | MeSH ID:C563047 +BMGC_DS07614,BMG_DS028432,"DOID:0111249 | MeSH ID:C535971 | UMLS ID:C0795902 | Coloboma, cleft lip-palate and mental retardation syndrome | uveal coloboma-cleft lip and palate-intellectual disability" +BMGC_DS07615,BMG_DS028433,MeSH ID:C535572 | Cantu syndrome | OMIM ID:239850 | Cantu's syndrome (disorder) | DOID:0060569 | Cantu's syndrome | UMLS ID:C0795905 | MONDO:0009406 | hypertrichotic osteochondrodysplasia Cantu type | SNOMEDCT ID:239087008 +BMGC_DS07616,BMG_DS028434,OMIM ID:217095 | CONOTRUNCAL ANOMALY FACE SYNDROME | UMLS ID:C0795907 +BMGC_DS07617,BMG_DS028435,UMLS ID:C0795910 | COWCHOCK SYNDROME | OMIM ID:310490 | OMIM ID:300169 | MONDO:0010689 | Charcot-Marie-Tooth disease X-linked recessive 4 +BMGC_DS07618,BMG_DS028436,"Congenital cataract, nephropathy, encephalopathy syndrome | cataract-nephropathy-encephalopathy syndrome | SNOMEDCT ID:722381004 | UMLS ID:C0795914 | Crome syndrome | Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | MeSH ID:C536216 | MONDO:0009045 | OMIM ID:218900" +BMGC_DS07619,BMG_DS028437,Curry-Jones syndrome | Winter Shortland Temple syndrome | MeSH ID:C536735 | OMIM ID:601707 | UMLS ID:C0795915 | MONDO:0011134 +BMGC_DS07620,BMG_DS028438,"MONDO:0007716 | OMIM ID:141750 | MeSH ID:C563050 | Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type | alpha thalassemia-intellectual disability syndrome type 1 | UMLS ID:C0795917" +BMGC_DS07621,BMG_DS028440,"DOID:0111627 | Deafness, congenital onychodystrophy, recessive form | DOORS syndrome | MeSH ID:C538204 | UMLS ID:C0795927" +BMGC_DS07622,BMG_DS028441,Edinburgh malformation syndrome | MeSH ID:C563051 | MONDO:0007519 | UMLS ID:C0795933 | Edinburgh Malformation Syndrome | OMIM ID:129850 +BMGC_DS07623,BMG_DS028442,UMLS ID:C0795934 | OMIM ID:220500 | MONDO:0009079 | DOORS syndrome | MeSH ID:C563052 | Digitorenocerebral Syndrome +BMGC_DS07624,BMG_DS028444,pseudoaminopterin syndrome | MONDO:0010865 | UMLS ID:C0795939 | OMIM ID:600325 | AMINOPTERIN SYNDROME SINE AMINOPTERIN +BMGC_DS07625,BMG_DS028445,"UMLS ID:C0795940 | DOID:0112194 | SNOMEDCT ID:720954000 | OMIM ID:272440 | Type 1 syndactyly, microcephaly, intellectual disability syndrome | Filippi syndrome | MONDO:0010092 | MeSH ID:C538152 | Filippi syndrome (disorder)" +BMGC_DS07626,BMG_DS028446,Fine-Lubinsky syndrome | MONDO:0011049 | UMLS ID:C0795941 | OMIM ID:601353 | MeSH ID:C537933 +BMGC_DS07627,BMG_DS028448,"MONDO:0009241 | Deafness, skeletal dysplasia, coarse face with full lips syndrome | SNOMEDCT ID:720957007 | Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Deafness with skeletal dysplasia and lip granuloma syndrome | Fountain syndrome | UMLS ID:C0795944 | MeSH ID:C537270 | OMIM ID:229120 | fountain syndrome" +BMGC_DS07628,BMG_DS028450,"Galloway Mowat syndrome (disorder) | Galloway Mowat syndrome | Galloway-Mowat syndrome | MONDO:0009627 | DOID:0080694 | Nephrosis, neuronal dysmigration syndrome | Galloway syndrome | UMLS ID:C0795949 | MeSH ID:C537548 | Microcephaly, hiatus hernia, nephrotic syndrome | SNOMEDCT ID:721297008" +BMGC_DS07629,BMG_DS028451,UMLS ID:C0795950 | Corpus callosum agenesis neuronopathy | MeSH ID:C536446 | agenesis of the corpus callosum with peripheral neuropathy | OMIM ID:218000 | MONDO:0000902 +BMGC_DS07630,BMG_DS028452,MONDO:0008811 | MeSH ID:C536767 | XK aprosencephaly | UMLS ID:C0795952 | OMIM ID:207770 +BMGC_DS07631,BMG_DS028453,"MASA syndrome | MASA (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome | DOID:0060246 | SNOMEDCT ID:838441009 | Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome | OMIM ID:303350 | Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome | UMLS ID:C0795953 | MONDO:0010559 | Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder)" +BMGC_DS07632,BMG_DS028454,UMLS ID:C0795956 | Anderson syndrome | Hypertriglyceridaemia | SNOMEDCT ID:702364003 | chylomicron retention disease | OMIM ID:246700 | Chylomicron retention disease (disorder) | MONDO:0009528 | Chylomicron retention disease | MeSH ID:C535460 | DOID:0060357 | Lipid transport defect of intestine | ICD10 ID:E78.3 | ICD11 ID:5C80.1 +BMGC_DS07633,BMG_DS028455,SNOMEDCT ID:722451006 | OMIM ID:601853 | UMLS ID:C0795959 | Gomez Lopez Hernandez syndrome | Gomez-Lopez-Hernandez syndrome | MONDO:0011157 | Cerebellotrigeminal dermal dysplasia syndrome | MeSH ID:C537285 | Gomez Lopez Hernandez syndrome (disorder) +BMGC_DS07634,BMG_DS028456,"MONDO:0010661 | X-linked mental retardation Gustavson type | UMLS ID:C0795965 | OMIM ID:309555 | severe X-linked intellectual disability, Gustavson type | MeSH ID:C536759" +BMGC_DS07635,BMG_DS028457,Cholestasis with pigmentary retinopathy and cleft palate syndrome | UMLS ID:C0795969 | Hardikar syndrome | OMIM ID:612726 | MONDO:0012997 | MeSH ID:C535632 | SNOMEDCT ID:720636001 | Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | cholestasis-pigmentary retinopathy-cleft palate syndrome | OMIM ID:301068 +BMGC_DS07636,BMG_DS028459,"bullous dystrophy, macular type | MONDO:0010540 | UMLS ID:C0795974 | OMIM ID:302000" +BMGC_DS07637,BMG_DS028462,infantile bilateral striatal necrosis | Infantile striatonigral degeneration | SNOMEDCT ID:718174008 | Infantile bilateral striatal necrosis | UMLS ID:C0795996 | Infantile striatonigral degeneration (disorder) | MONDO:0015518 +BMGC_DS07638,BMG_DS028463,Jackson-Weiss syndrome | OMIM ID:136350 | DOID:0111337 | UMLS ID:C0795998 | JACKSON-WEISS SYNDROME | OMIM ID:123150 | OMIM ID:176943 | MONDO:0007400 +BMGC_DS07639,BMG_DS028467,Juberg-Marsidi syndrome | UMLS ID:C0796003 | MeSH ID:C567476 +BMGC_DS07640,BMG_DS028468,UMLS ID:C0796004 | MONDO:0016512 | DOID:0060473 | Kabuki syndrome +BMGC_DS07641,BMG_DS028469,SNOMEDCT ID:722031003 | MONDO:0009483 | Kapur-Toriello syndrome | UMLS ID:C0796005 | OMIM ID:244300 | Kapur Toriello syndrome | Kapur Toriello syndrome (disorder) | MeSH ID:C537008 +BMGC_DS07642,BMG_DS028470,UMLS ID:C0796010 | Kifafa seizure disorder | MeSH ID:C537708 | MONDO:0009497 | OMIM ID:245180 +BMGC_DS07643,BMG_DS028471,OMIM ID:261540 | MONDO:0009856 | Peters plus syndrome | Krause-Kivlin syndrome | MeSH ID:C537617 | UMLS ID:C0796012 +BMGC_DS07644,BMG_DS028472,Zimmerman Laband syndrome | Zimmermann-Laband syndrome | MeSH ID:C536725 | UMLS ID:C0796013 | MONDO:0000200 +BMGC_DS07645,BMG_DS028473,"UMLS ID:C0796016 | OMIM ID:309800 | microphthalmia, syndromic 1 | MONDO:0010671" +BMGC_DS07646,BMG_DS028474,MeSH ID:C536859 | Spastic paraplegia 23 | MONDO:0010046 | UMLS ID:C0796019 | OMIM ID:270750 | hereditary spastic paraplegia 23 +BMGC_DS07647,BMG_DS028475,Lowry Maclean syndrome | MONDO:0010851 | OMIM ID:600252 | UMLS ID:C0796020 | Lowry-MacLean syndrome | MeSH ID:C537037 +BMGC_DS07648,BMG_DS028476,"SNOMEDCT ID:721975004 | Lowry Wood syndrome | Lowry-Wood syndrome | Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | MONDO:0009191 | OMIM ID:226960 | Epiphyseal dysplasia, microcephalus, nystagmus syndrome | MeSH ID:C537038 | UMLS ID:C0796021" +BMGC_DS07649,BMG_DS028477,syndromic X-linked intellectual disability 14 | X-linked intellectual disability with marfanoid habitus | MeSH ID:C537724 | UMLS ID:C0796022 | DOID:0060821 | OMIM ID:309520 | Lujan Fryns syndrome | MONDO:0010655 +BMGC_DS07650,BMG_DS028478,MONDO:0009542 | MeSH ID:C563080 | OMIM ID:247950 | lysine malabsorption syndrome | UMLS ID:C0796023 | Lysine Malabsorption Syndrome +BMGC_DS07651,BMG_DS028479,prominent glabella-microcephaly-hypogenitalism syndrome | UMLS ID:C0796024 | SNOMEDCT ID:716023007 | MONDO:0009543 | Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) | Prominent glabella with microcephaly and hypogenitalism syndrome | MacDermot Winter syndrome | OMIM ID:247990 | MeSH ID:C537714 +BMGC_DS07652,BMG_DS028480,"DOID:0050647 | MONDO:0010533 | Arts syndrome | ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION | UMLS ID:C0796028 | OMIM ID:301835" +BMGC_DS07653,BMG_DS028481,UMLS ID:C0796031 | MeSH ID:C535703 | Najjar syndrome | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | MONDO:0008915 | OMIM ID:212112 | Cardiogenital syndrome | Malouf syndrome | DOID:0111584 | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) | SNOMEDCT ID:719451006 | dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +BMGC_DS07654,BMG_DS028482,UMLS ID:C0796032 | OMIM ID:248340 | 3MC syndrome 3 | Malpuech facial clefting syndrome | MeSH ID:C535704 | MONDO:0009554 +BMGC_DS07655,BMG_DS028483,Marden-Walker syndrome | MARDEN-WALKER SYNDROME | OMIM ID:248700 | MONDO:0009564 | UMLS ID:C0796033 | OMIM ID:613629 +BMGC_DS07656,BMG_DS028485,Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | UMLS ID:C0796037 | SNOMEDCT ID:722380003 | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | MONDO:0023910 | Martsolf syndrome | DOID:0111586 | MeSH ID:C536028 +BMGC_DS07657,BMG_DS028487,ataxia - deafness - intellectual disability syndrome | OMIM ID:208850 | MeSH ID:C535295 | Reardon Wilson Cavanagh syndrome | UMLS ID:C0796045 | MONDO:0008838 +BMGC_DS07658,BMG_DS028488,Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Skeletal dysplasia with epilepsy and short stature syndrome | Gurrieri Sammito Bellussi syndrome | SNOMEDCT ID:715428003 | skeletal dysplasia-epilepsy-short stature syndrome | OMIM ID:601187 | UMLS ID:C0796046 | MeSH ID:C537625 | MONDO:0011011 +BMGC_DS07659,BMG_DS028489,encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | UMLS ID:C0796055 | Mercaptolactate-Cysteine Disulfiduria | MONDO:0009585 | OMIM ID:249650 | MeSH ID:C563085 +BMGC_DS07660,BMG_DS028491,MONDO:0009587 | mesoaxial hexadactyly and cardiac malformation | Mexican Cardiomelic Dysplasia | MeSH ID:C563087 | UMLS ID:C0796057 | OMIM ID:249670 +BMGC_DS07661,BMG_DS028492,3MC syndrome 1 | Oculopalatoskeletal syndrome | MeSH ID:C537738 | UMLS ID:C0796059 | OMIM ID:257920 | MONDO:0009770 +BMGC_DS07662,BMG_DS028494,Jawad syndrome | OMIM ID:251255 | MONDO:0009622 | UMLS ID:C0796063 +BMGC_DS07663,BMG_DS028495,MONDO:0009621 | MeSH ID:C537325 | UMLS ID:C0796066 | Microcephaly cervical spine fusion anomalies | OMIM ID:251250 | microcephaly-cervical spine fusion anomalies syndrome +BMGC_DS07664,BMG_DS028496,DOID:0060464 | UMLS ID:C0796068 | MONDO:0015267 | Feingold syndrome | Oculodigitoesophagoduodenal syndrome | MeSH ID:C537734 +BMGC_DS07665,BMG_DS028497,"MICROPHTHALMIA, SYNDROMIC 7 | MONDO:0024552 | OMIM ID:309801 | UMLS ID:C0796070 | linear skin defects with multiple congenital anomalies 1" +BMGC_DS07666,BMG_DS028498,"MONDO:0009986 | UMLS ID:C0796072 | OMIM ID:268050 | MeSH ID:C536438 | Mirhosseini-Holmes-Walton syndrome | retinopathy, pigmentary, and intellectual disability" +BMGC_DS07667,BMG_DS028499,OMIM ID:304700 | MOHR-TRANEBJAERG SYNDROME | MONDO:0010578 | UMLS ID:C0796074 | deafness dystonia syndrome | OMIM ID:300356 +BMGC_DS07668,BMG_DS028503,"Laryngotracheal stenosis, arthropathy, prognathism and short stature | OMIM ID:139210 | Facial dysmorphism, intellectual deficit, short stature and hearing loss | Myhre syndrome | Myhre syndrome (disorder) | MONDO:0007688 | UMLS ID:C0796081 | MeSH ID:C537620 | SNOMEDCT ID:699316006" +BMGC_DS07669,BMG_DS028504,Najjar syndrome | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Cardiogenital syndrome | Malouf syndrome | MeSH ID:C535580 | dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | DOID:0111584 | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) | SNOMEDCT ID:719451006 | UMLS ID:C0796083 +BMGC_DS07670,BMG_DS028505,OMIM ID:302350 | MONDO:0010545 | UMLS ID:C0796085 | DOID:0060599 | Nance-Horan syndrome | MeSH ID:C538336 | Nance-Horan syndrome (disorder) | SNOMEDCT ID:445257004 +BMGC_DS07671,BMG_DS028506,UMLS ID:C0796086 | Neuhauser syndrome | megalocornea-intellectual disability syndrome | OMIM ID:249310 | MONDO:0009577 | MeSH ID:C536143 +BMGC_DS07672,BMG_DS028508,"Norman-Roberts syndrome | OMIM ID:257320 | MONDO:0009760 | LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE | DOID:0060902 | UMLS ID:C0796089" +BMGC_DS07673,BMG_DS028509,MONDO:0008108 | oculocerebrocutaneous syndrome | Oculocerebrocutaneous syndrome | SNOMEDCT ID:403554008 | UMLS ID:C0796092 | MeSH ID:C538088 | Oculocerebrocutaneous syndrome (disorder) | OMIM ID:164180 | Delleman-Oorthuys syndrome +BMGC_DS07674,BMG_DS028510,odonto-onycho-dermal dysplasia | MeSH ID:C537742 | UMLS ID:C0796093 | MONDO:0009773 | Odontoonychodermal dysplasia | OMIM ID:257980 +BMGC_DS07675,BMG_DS028511,"Ohdo syndrome | UMLS ID:C0796094 | blepharophimosis - intellectual disability syndrome, Ohdo type | DOID:0060289 | OMIM ID:249620 | MeSH ID:C536232 | Blepharophimosis syndrome Ohdo type | MONDO:0009583" +BMGC_DS07676,BMG_DS028512,DOID:0111581 | OMIM ID:211750 | MeSH ID:C537418 | C syndrome | Opitz trigonocephaly syndrome | UMLS ID:C0796095 | MONDO:0008893 +BMGC_DS07677,BMG_DS028513,OMIM ID:216100 | MONDO:0008992 | UMLS ID:C0796099 | CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY | Juberg-Hayward syndrome +BMGC_DS07678,BMG_DS028514,UMLS ID:C0796100 | orofaciodigital syndrome VII | OMIM ID:608518 | DOID:0060377 | MeSH ID:C563104 | Orofaciodigital Syndrome VII | MONDO:0012049 +BMGC_DS07679,BMG_DS028515,Orofaciodigital syndrome 8 | MONDO:0010336 | MeSH ID:C557820 | DOID:0060378 | orofaciodigital syndrome VIII | UMLS ID:C0796101 | OMIM ID:300484 +BMGC_DS07680,BMG_DS028516,UMLS ID:C0796102 | MeSH ID:C557818 | DOID:0060382 | OMIM ID:258865 | orofaciodigital syndrome IX | Orofaciodigital syndrome 9 | MONDO:0009795 +BMGC_DS07681,BMG_DS028518,"Perlman syndrome | DOID:0060476 | Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor | OMIM ID:267000 | MONDO:0009965 | UMLS ID:C0796113 | MeSH ID:C536399" +BMGC_DS07682,BMG_DS028519,Wolf-Hirschhorn syndrome | UMLS ID:C0796117 | DOID:0050460 | Pitt-Rogers-Danks Syndrome | MeSH ID:D054877 | Wolf-Hirschhorn Syndrome +BMGC_DS07683,BMG_DS028522,"OMIM ID:259050 | MONDO:0009798 | SNOMEDCT ID:726709001 | Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) | UMLS ID:C0796121 | Primrose syndrome | Intellectual disability, cataract, calcified pinna, myopathy syndrome | MeSH ID:C536420" +BMGC_DS07684,BMG_DS028523,OMIM ID:212710 | cataract-ataxia-deafness syndrome | MeSH ID:C538283 | Cataract ataxia deafness | UMLS ID:C0796123 | MONDO:0008928 +BMGC_DS07685,BMG_DS028524,Proud Syndrome | OMIM ID:300004 | MONDO:0010224 | corpus callosum agenesis-abnormal genitalia syndrome | UMLS ID:C0796124 | MeSH ID:C563110 +BMGC_DS07686,BMG_DS028525,UMLS ID:C0796125 | MONDO:0008694 | OMIM ID:200130 | pseudoprogeria syndrome | MeSH ID:C563111 | Absent Eyebrows and Eyelashes with Mental Retardation +BMGC_DS07687,BMG_DS028526,Aicardi-Goutieres syndrome 1 | OMIM ID:606609 | OMIM ID:225750 | MONDO:0009165 | UMLS ID:C0796126 | AICARDI-GOUTIERES SYNDROME 1 +BMGC_DS07688,BMG_DS028527,OMIM ID:266270 | UMLS ID:C0796133 | MeSH ID:C535285 | MONDO:0009954 | Ramon Syndrome | Ramon syndrome +BMGC_DS07689,BMG_DS028528,Renpenning syndrome 1 | MeSH ID:C537761 | MONDO:0010653 | Renpenning syndrome | OMIM ID:309500 | UMLS ID:C0796135 +BMGC_DS07690,BMG_DS028530,Ritscher Schinzel syndrome | DOID:0060565 | Cranio-cerebello-cardiac dysplasia syndrome (disorder) | UMLS ID:C0796137 | Ritscher-Schinzel syndrome | MeSH ID:C535313 | MONDO:0019078 | Craniocerebellocardiac dysplasia | SNOMEDCT ID:718556007 | 3C syndrome | Cranio-cerebello-cardiac dysplasia syndrome +BMGC_DS07691,BMG_DS028532,"OMIM ID:180900 | Oculodental syndrome Rutherfurd syndrome | MeSH ID:C537732 | MONDO:0008396 | oculodental syndrome, Rutherfurd type | UMLS ID:C0796140" +BMGC_DS07692,BMG_DS028533,MeSH ID:C563119 | UMLS ID:C0796142 | MONDO:0010007 | Sao Paulo MCA-MR Syndrome | OMIM ID:268850 | microbrachycephaly-ptosis-cleft lip syndrome +BMGC_DS07693,BMG_DS028534,Acrocallosal Syndrome | MeSH ID:D055673 | UMLS ID:C0796147 | MONDO:0008708 | acrocallosal syndrome | DOID:9250 | OMIM ID:200990 +BMGC_DS07694,BMG_DS028535,Scott Syndrome | DOID:0111052 | UMLS ID:C0796149 | MONDO:0009885 | MeSH ID:C563120 | Scott syndrome | OMIM ID:262890 +BMGC_DS07695,BMG_DS028536,"OMIM ID:300037 | DOID:0060248 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | Simpson-Golabi-Behmel syndrome type 1 | MONDO:0020602 | UMLS ID:C0796154 | OMIM ID:312870" +BMGC_DS07696,BMG_DS028538,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE | UMLS ID:C0796160 | OMIM ID:300105 | MONDO:0010664 | OMIM ID:309583 | syndromic X-linked intellectual disability Snyder type" +BMGC_DS07697,BMG_DS028539,Congenital heart defect with round face and developmental delay syndrome (disorder) | MONDO:0010039 | Congenital heart defect with round face and developmental delay syndrome | MeSH ID:C536680 | OMIM ID:270460 | SNOMEDCT ID:715987000 | congenital heart defect-round face-developmental delay syndrome | UMLS ID:C0796162 | Sonoda syndrome +BMGC_DS07698,BMG_DS028541,"MONDO:0010738 | Spondylometaphyseal Dysplasia, X-Linked | MeSH ID:C563124 | OMIM ID:313420 | spondylometaphyseal dysplasia, Golden type | UMLS ID:C0796172" +BMGC_DS07699,BMG_DS028542,MeSH ID:C535799 | UMLS ID:C0796173 | spondyloperipheral dysplasia | MONDO:0010078 | Spondyloperipheral dysplasia short ulna | OMIM ID:271700 +BMGC_DS07700,BMG_DS028543,UMLS ID:C0796176 | Stuve-Wiedemann syndrome | MONDO:0031280 +BMGC_DS07701,BMG_DS028544,UMLS ID:C0796179 | Hypertelorism Teebi type | MONDO:0030639 | SNOMEDCT ID:724284005 | Hypertelorism Teebi type (disorder) | Teebi hypertelorism syndrome | MeSH ID:C538387 | Teebi syndrome | Brachycephalofrontonasal dysplasia | Craniofrontonasal dysplasia Teebi type +BMGC_DS07702,BMG_DS028545,SNOMEDCT ID:715427008 | Toriello syndrome | Acromelic frontonasal dysplasia (disorder) | MeSH ID:C535657 | Acromelic frontonasal dysplasia | UMLS ID:C0796182 +BMGC_DS07703,BMG_DS028546,"MeSH ID:C563127 | OMIM ID:217980 | Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence | Toriello-Carey syndrome | MONDO:0009021 | UMLS ID:C0796184" +BMGC_DS07704,BMG_DS028548,van den Bosch syndrome | MeSH ID:C563129 | MONDO:0010754 | UMLS ID:C0796192 | OMIM ID:314500 | Van Den Bosch Syndrome +BMGC_DS07705,BMG_DS028549,Waisman syndrome | SNOMEDCT ID:716107009 | OMIM ID:311510 | Early onset parkinsonism and intellectual disability syndrome | MeSH ID:C537179 | early-onset parkinsonism-intellectual disability syndrome | MONDO:0010709 | Early onset parkinsonism and intellectual disability syndrome (disorder) | Laxova Opitz syndrome | UMLS ID:C0796195 +BMGC_DS07706,BMG_DS028550,Blepharonasofacial malformation syndrome | OMIM ID:110050 | SNOMEDCT ID:717913006 | blepharonasofacial malformation syndrome | MONDO:0007200 | Blepharonasofacial malformation syndrome (disorder) | Pashayan syndrome | UMLS ID:C0796197 | Pashayan Prozansky syndrome | MeSH ID:C536303 +BMGC_DS07707,BMG_DS028552,UMLS ID:C0796200 | OMIM ID:314580 | MONDO:0010758 | Wieacker-Wolff syndrome +BMGC_DS07708,BMG_DS028554,UMLS ID:C0796203 | MONDO:0014096 | WOODS SYNDROME | microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome | OMIM ID:615236 +BMGC_DS07709,BMG_DS028555,Congenital suprabulbar paresis | Worster-Drought syndrome | UMLS ID:C0796204 | Worster Drought syndrome | MONDO:0008503 | SNOMEDCT ID:716335003 | OMIM ID:185480 | MeSH ID:C536747 | Congenital suprabulbar paresis (disorder) +BMGC_DS07710,BMG_DS028556,"OMIM ID:300014 | X-linked progressive cerebellar ataxia | MONDO:0010547 | OMIM ID:302500 | DOID:0111829 | UMLS ID:C0796205 | SPINOCEREBELLAR ATAXIA, X-LINKED 1 | X-linked spinocerebellar ataxia 1" +BMGC_DS07711,BMG_DS028558,"OMIM ID:300428 | MONDO:0010322 | UMLS ID:C0796207 | intellectual disability, X-linked 2" +BMGC_DS07712,BMG_DS028559,"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE | DOID:0111814 | methylmalonic acidemia and homocysteinemia cblX type | UMLS ID:C0796208 | MONDO:0010657 | OMIM ID:300019 | OMIM ID:309541 | methylmalonic acidemia with homocystinuria, type cblX" +BMGC_DS07713,BMG_DS028560,"intellectual disability, X-linked 9 | OMIM ID:309549 | UMLS ID:C0796215 | MONDO:0010660" +BMGC_DS07714,BMG_DS028561,"MONDO:0010496 | UMLS ID:C0796218 | OMIM ID:300395 | OMIM ID:300957 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12 | DOID:0112056 | X-linked intellectual disability-short stature-overweight syndrome" +BMGC_DS07715,BMG_DS028562,"MONDO:0010236 | OMIM ID:300062 | intellectual disability, X-linked 14 | UMLS ID:C0796220" +BMGC_DS07716,BMG_DS028563,"OMIM ID:300114 | intellectual disability, X-linked 49 | MONDO:0010250 | OMIM ID:302910 | DOID:0112060 | UMLS ID:C0796221 | Raynaud-Claes syndrome | RAYNAUD-CLAES SYNDROME" +BMGC_DS07717,BMG_DS028564,"OMIM ID:300055 | OMIM ID:300005 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | X-linked intellectual disability-psychosis-macroorchidism syndrome | UMLS ID:C0796222 | MONDO:0010235" +BMGC_DS07718,BMG_DS028565,"OMIM ID:300075 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 | non-syndromic X-linked intellectual disability 19 | OMIM ID:300844 | DOID:0112019 | intellectual disability, X-linked 19 | UMLS ID:C0796225 | MONDO:0010447" +BMGC_DS07719,BMG_DS028566,"MONDO:0010231 | OMIM ID:300047 | UMLS ID:C0796226 | intellectual disability, X-linked 20" +BMGC_DS07720,BMG_DS028567,"MONDO:0010230 | UMLS ID:C0796229 | intellectual disability, X-linked 23 | OMIM ID:300046" +BMGC_DS07721,BMG_DS028568,SNOMEDCT ID:720565000 | UMLS ID:C0796232 | MONDO:0011510 | OMIM ID:605039 | Bohring syndrome | Bohring Opitz syndrome | Bohring Opitz syndrome (disorder) | Opitz trigonocephaly-like syndrome | Bohring-Opitz syndrome | MeSH ID:C537419 | C-like syndrome +BMGC_DS07722,BMG_DS028569,"UMLS ID:C0796237 | OMIM ID:300558 | non-syndromic X-linked intellectual disability 30 | intellectual disability, X-linked 30 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | DOID:0112051 | MONDO:0010361 | OMIM ID:300142" +BMGC_DS07723,BMG_DS028570,chromosome Xp11.22 duplication syndrome | DOID:0112037 | CHROMOSOME Xp11.22 DUPLICATION SYNDROME | MONDO:0010406 | OMIM ID:300705 | UMLS ID:C0796238 +BMGC_DS07724,BMG_DS028571,"OMIM ID:300419 | intellectual disability, X-linked, with or without seizures, arx-related | OMIM ID:300382 | non-syndromic X-linked intellectual disability ARX-related | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | UMLS ID:C0796244 | DOID:0112021 | MONDO:0010317" +BMGC_DS07725,BMG_DS028572,Partington syndrome | MONDO:0010654 | OMIM ID:309510 | SNOMEDCT ID:702412005 | UMLS ID:C0796250 | Partington x-linked mental retardation syndrome | Partington X-linked intellectual disability syndrome | X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) | MeSH ID:C536300 | X-linked intellectual deficit-dystonia-dysarthria syndrome | Partington-Mulley syndrome +BMGC_DS07726,BMG_DS028573,"OMIM ID:304340 | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome | SNOMEDCT ID:719139003 | DOID:0060800 | syndromic X-linked intellectual disability 5 | MONDO:0010574 | Pettigrew syndrome | UMLS ID:C0796254 | MeSH ID:C535773 | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)" +BMGC_DS07727,BMG_DS028575,UMLS ID:C0796271 | DOID:0111874 | Sabinas brittle hair syndrome | Sabinas brittle hair syndrome (disorder) | OMIM ID:211390 | SNOMEDCT ID:1003920007 | MONDO:0008886 | MeSH ID:C536320 +BMGC_DS07728,BMG_DS028576,Brown-Vialetto-van Laere syndrome 1 | MONDO:0024537 | OMIM ID:211530 | UMLS ID:C0796274 +BMGC_DS07729,BMG_DS028577,Brunner Syndrome | MONDO:0010379 | Brunner syndrome | MeSH ID:C563156 | OMIM ID:300615 | DOID:0060693 | UMLS ID:C0796275 +BMGC_DS07730,BMG_DS028579,MeSH ID:C535586 | 3MC syndrome 2 | OMIM ID:265050 | Carnevale syndrome | UMLS ID:C0796279 | MONDO:0009927 +BMGC_DS07731,BMG_DS028580,UMLS ID:C0796280 | MONDO:0007051 | SNOMEDCT ID:720456009 | OMIM ID:102150 | Acromegaloid facial appearance syndrome (disorder) | acromegaloid facial appearance syndrome | Acromegaloid facial appearance syndrome | MeSH ID:C535655 +BMGC_DS07732,BMG_DS028581,"Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | MONDO:0008894 | CAHMR syndrome | CAHMR (cataract, hypertrichosis, mental retardation) syndrome | cataract-hypertrichosis-intellectual disability syndrome | Congenital cataract with hypertrichosis and intellectual disability syndrome | UMLS ID:C0796282 | OMIM ID:211770 | SNOMEDCT ID:722379001 | MeSH ID:C537959" +BMGC_DS07733,BMG_DS028584,UMLS ID:C0796430 | adult choroid plexus cancer | MONDO:0002683 | adult choroid plexus neoplasm | DOID:3542 +BMGC_DS07734,BMG_DS028586,Ewing sarcoma | UMLS ID:C0796547 | DOID:3369 +BMGC_DS07735,BMG_DS028587,DOID:6082 | MONDO:0003758 | UMLS ID:C0796663 | childhood testicular germ cell tumor +BMGC_DS07736,BMG_DS028588,UMLS ID:C0796664 | MONDO:0003760 | DOID:6084 | pediatric ovarian germ cell tumor | childhood ovarian germ cell tumor +BMGC_DS07737,BMG_DS028590,OMIM ID:603463 | Branchio-skeleto-genital syndrome | BSG syndrome | Elsahy-Waters syndrome | MONDO:0008885 | Branchioskeletogenital syndrome (disorder) | Branchioskeletogenital syndrome | UMLS ID:C0809936 | OMIM ID:211380 | SNOMEDCT ID:719097002 +BMGC_DS07738,BMG_DS028594,malignant pleural mesothelioma | DOID:7474 | UMLS ID:C0812413 | MONDO:0005112 +BMGC_DS07739,BMG_DS028595,DOID:0060291 | UMLS ID:C0812437 | oculodentodigital dysplasia | OMIM ID:164200 | MONDO:0008111 +BMGC_DS07740,BMG_DS028596,Ulnar Neuropathies | MeSH ID:D020424 | Ulnar Nerve Palsy | UMLS ID:C0812454 +BMGC_DS07741,BMG_DS028598,Chronobiology Disorders | Circadian Rhythm Disorders | UMLS ID:C0813142 | MeSH ID:D021081 +BMGC_DS07742,BMG_DS028599,hypertriglyceridemia | UMLS ID:C0813230 | MONDO:0005347 +BMGC_DS07743,BMG_DS028601,Alcohol Related Neurodevelopmental Disorder | UMLS ID:C0814154 | Fetal Alcohol Spectrum Disorders | MeSH ID:D063647 +BMGC_DS07744,BMG_DS028603,UMLS ID:C0836924 | DOID:2228 | SNOMEDCT ID:415115007 | SNOMEDCT ID:165557006 | Thrombocythaemia | ICD10 ID:D75.83 | Thrombocytosis | Thrombocythemia | thrombocytosis disease | SNOMEDCT ID:6631009 | Thrombocythemia (disorder) | MeSH ID:D013922 | thrombocytosis | SNOMEDCT ID:79574003 | Increased platelets | Platelet count above reference range | Thrombocythemia (finding) | MONDO:0002249 | Platelet count above reference range (finding) | OMIM ID:MTHU008388 | Thrombocytosis (disorder) +BMGC_DS07745,BMG_DS028621,ICD11 ID:8D20.10 | Spastic quadriplegic cerebral palsy | UMLS ID:C0837178 | ICD10 ID:G80.0 +BMGC_DS07746,BMG_DS029146,UMLS ID:C0840564 | Nontraumatic rupture of bladder | Rupture of bladder | SNOMEDCT ID:251925007 | Rupture of urinary bladder (disorder) | SNOMEDCT ID:840001 | Nontraumatic rupture of bladder (disorder) | Rupture of urinary bladder +BMGC_DS07747,BMG_DS029148,DOID:174 | acanthoma | UMLS ID:C0846967 | MONDO:0002093 +BMGC_DS07748,BMG_DS029156,DOID:10892 | UMLS ID:C0848558 | hypospadias | MONDO:0005345 +BMGC_DS07749,BMG_DS029157,MONDO:0002466 | UMLS ID:C0848866 | DOID:295 | eye carcinoma +BMGC_DS07750,BMG_DS029158,trachea carcinoma | DOID:4876 | UMLS ID:C0848879 +BMGC_DS07751,BMG_DS029166,Helicobacter pylori infection | Infection caused by H. pylori (Helicobacter pylori) | SNOMEDCT ID:721730009 | Infection caused by Helicobacter pylori | UMLS ID:C0850666 | Infection caused by Helicobacter pylori (disorder) +BMGC_DS07752,BMG_DS029172,UMLS ID:C0851140 | cervix uteri carcinoma in situ | MONDO:0042487 | uterine cervix carcinoma in situ | DOID:8991 +BMGC_DS07753,BMG_DS029189,MeSH ID:D016720 | Pneumocystis Infections | MONDO:0005923 | UMLS ID:C0851886 | Pneumocystis infectious disease +BMGC_DS07754,BMG_DS029191,"UMLS ID:C0852036 | hypertension, pregnancy-induced | MONDO:0024664" +BMGC_DS07755,BMG_DS029192,"MeSH ID:D025861 | UMLS ID:C0852077 | MONDO:0021181 | inherited blood coagulation disorder | Blood Coagulation Disorders, Inherited" +BMGC_DS07756,BMG_DS029195,Respiratory Distress Syndrome | MeSH ID:D012128 | UMLS ID:C0852283 +BMGC_DS07757,BMG_DS029199,Moraxellaceae Infections | Moraxella Infections | MeSH ID:D045828 | MONDO:0006878 | Moraxellaceae infectious disease | UMLS ID:C0852874 +BMGC_DS07758,BMG_DS029202,MONDO:0000961 | endobronchial lipoma | UMLS ID:C0852937 | DOID:10183 +BMGC_DS07759,BMG_DS029209,DOID:3449 | UMLS ID:C0853105 | MONDO:0006360 | penis carcinoma | penile carcinoma +BMGC_DS07760,BMG_DS029210,UMLS ID:C0853193 | MONDO:0001866 | bipolar I disorder +BMGC_DS07761,BMG_DS029211,UMLS ID:C0853195 | MONDO:0002646 | DOID:3436 | viral laryngitis +BMGC_DS07762,BMG_DS029214,DOID:8427 | UMLS ID:C0853394 | retinal melanoma | MONDO:0004561 +BMGC_DS07763,BMG_DS029215,renal pelvis papillary tumor | DOID:5975 | MONDO:0003717 | UMLS ID:C0853688 +BMGC_DS07764,BMG_DS029218,neutropenia | UMLS ID:C0853697 | MONDO:0001475 +BMGC_DS07765,BMG_DS029219,DOID:476 | UMLS ID:C0853715 | MONDO:0003126 | breast hemangioma +BMGC_DS07766,BMG_DS029222,MONDO:0006256 | invasive breast carcinoma | UMLS ID:C0853879 +BMGC_DS07767,BMG_DS029223,Diabetic Cardiomyopathies | UMLS ID:C0853897 | MeSH ID:D058065 +BMGC_DS07768,BMG_DS029225,OMIM ID:MTHU002022 | Insulin-resistant diabetes mellitus | UMLS ID:C0854110 +BMGC_DS07769,BMG_DS029226,MeSH ID:D001064 | Appendicitis | Ruptured Appendicitis | UMLS ID:C0854119 +BMGC_DS07770,BMG_DS029230,Feeding and Eating Disorders | Feeding Disorders | MeSH ID:D001068 | UMLS ID:C0854145 +BMGC_DS07771,BMG_DS029231,MONDO:0002309 | DOID:2458 | Papillary conjunctivitis (disorder) | papillary conjunctivitis | UMLS ID:C0854165 | SNOMEDCT ID:416878008 | Papillary conjunctivitis +BMGC_DS07772,BMG_DS029232,UMLS ID:C0854196 | MONDO:0002514 | hepatobiliary benign neoplasm | DOID:3117 | hepatobiliary neoplasm +BMGC_DS07773,BMG_DS029233,Bacterial keratitis | Bacterial keratitis (disorder) | SNOMEDCT ID:314557000 | UMLS ID:C0854211 +BMGC_DS07774,BMG_DS029235,bacterial meningitis caused by gram-negative bacteria | Meningitis with gram negative bacteria | Bacterial meningitis caused by Gram-negative bacteria | MONDO:0041825 | Gram-negative bacterial meningitis | Bacterial meningitis caused by Gram-negative bacteria (disorder) | UMLS ID:C0854215 | SNOMEDCT ID:425887005 +BMGC_DS07775,BMG_DS029237,Pneumonia caused by Gram-negative bacteria | SNOMEDCT ID:430395005 | Gram negative pneumonia | MONDO:0041850 | pneumonia caused by gram negative bacteria | UMLS ID:C0854248 | Pneumonia caused by Gram negative bacteria | Pneumonia caused by Gram negative bacteria (disorder) +BMGC_DS07776,BMG_DS029238,Infection caused by anaerobic bacteria (disorder) | Infection caused by anaerobic bacteria | anaerobic bacteria infectious disease | MONDO:0024389 | UMLS ID:C0854328 | SNOMEDCT ID:423451008 | Anaerobic bacterial infection +BMGC_DS07777,BMG_DS029240,eczema herpeticum | DOID:9123 | MONDO:0004712 | UMLS ID:C0854331 | herpes simplex dermatitis +BMGC_DS07778,BMG_DS029245,UMLS ID:C0854486 | functioning pituitary adenoma | functioning pituitary gland adenoma | MONDO:0003429 | DOID:5395 +BMGC_DS07779,BMG_DS029253,trichomegaly | MONDO:0008593 | UMLS ID:C0854699 | OMIM ID:190330 +BMGC_DS07780,BMG_DS029255,inherited retinal dystrophy | MeSH ID:D058499 | fundus dystrophy | UMLS ID:C0854723 | Retinal Dystrophies | MONDO:0019118 | DOID:8501 +BMGC_DS07781,BMG_DS029256,DOID:3571 | UMLS ID:C0854795 | liver cancer +BMGC_DS07782,BMG_DS029257,refractory T lymphoblastic leukemia/lymphoma | refractory precursor T-lymphoblastic lymphoma/leukemia | DOID:7936 | UMLS ID:C0854859 | MONDO:0004404 +BMGC_DS07783,BMG_DS029258,pericardial mesothelioma | DOID:6201 | UMLS ID:C0854883 +BMGC_DS07784,BMG_DS029259,DOID:1788 | peritoneal mesothelioma | UMLS ID:C0854886 +BMGC_DS07785,BMG_DS029260,UMLS ID:C0854893 | angiosarcoma | DOID:0001816 +BMGC_DS07786,BMG_DS029261,UMLS ID:C0854912 | DOID:7428 | pineal region germinoma | MONDO:0004216 +BMGC_DS07787,BMG_DS029262,UMLS ID:C0854914 | DOID:4650 | MONDO:0003075 | bilateral retinoblastoma +BMGC_DS07788,BMG_DS029263,unilateral retinoblastoma | UMLS ID:C0854915 | MONDO:0003076 | DOID:4651 +BMGC_DS07789,BMG_DS029264,DOID:3674 | kidney rhabdoid cancer | UMLS ID:C0854917 | MONDO:0002729 | rhabdoid tumor of the kidney +BMGC_DS07790,BMG_DS029265,UMLS ID:C0854921 | MONDO:0001978 | DOID:14491 | regional ureteric cancer +BMGC_DS07791,BMG_DS029266,endometrial serous adenocarcinoma | MONDO:0006196 | DOID:5750 | UMLS ID:C0854924 +BMGC_DS07792,BMG_DS029267,UMLS ID:C0854995 | paranasal sinus cancer | paranasal sinus carcinoma | MONDO:0000380 | DOID:0050619 +BMGC_DS07793,BMG_DS029268,DOID:4388 | peripheral primitive neuroectodermal tumor of bone | UMLS ID:C0855009 | MONDO:0002981 | bone peripheral neuroepithelioma +BMGC_DS07794,BMG_DS029269,UMLS ID:C0855011 | DOID:5862 | MONDO:0003682 | localized chondrosarcoma +BMGC_DS07795,BMG_DS029270,UMLS ID:C0855052 | extraosseous osteosarcoma | MONDO:0002621 | DOID:3357 +BMGC_DS07796,BMG_DS029272,MONDO:0000901 | UMLS ID:C0855112 | relapsed/refractory diffuse large B-cell lymphoma +BMGC_DS07797,BMG_DS029274,UMLS ID:C0855159 | DOID:3308 | embryonal carcinoma +BMGC_DS07798,BMG_DS029275,immature extragonadal teratoma | malignant teratoma | UMLS ID:C0855163 | DOID:5563 | MONDO:0024857 +BMGC_DS07799,BMG_DS029276,MONDO:0006374 | UMLS ID:C0855173 | DOID:2024 | placental choriocarcinoma +BMGC_DS07800,BMG_DS029277,UMLS ID:C0855197 | MONDO:0003510 | DOID:5556 | malignant testicular germ cell tumor | testicular malignant germ cell cancer +BMGC_DS07801,BMG_DS029286,UMLS ID:C0856695 | Acute exacerbation of chronic bronchitis (disorder) | Acute exacerbation of chronic obstructive airways disease | SNOMEDCT ID:425748003 | Acute exacerbation of chronic obstructive pulmonary disease (disorder) | Acute exacerbation of chronic obstructive pulmonary disease | SNOMEDCT ID:195951007 | Acute exacerbation of COPD (chronic obstructive pulmonary disease) | Acute exacerbation of chronic bronchitis +BMGC_DS07802,BMG_DS029288,UMLS ID:C0856750 | Aneurysm of descending aorta (disorder) | SNOMEDCT ID:426948001 | OMIM ID:MTHU060236 | Aneurysm of descending aorta +BMGC_DS07803,BMG_DS029290,UMLS ID:C0856761 | MeSH ID:D006502 | Budd-Chiari syndrome | OMIM ID:600880 | Budd-Chiari Syndrome | MONDO:0010947 +BMGC_DS07804,BMG_DS029293,UMLS ID:C0856815 | DOID:2833 | dehydration polycythemia | MONDO:0002437 +BMGC_DS07805,BMG_DS029294,UMLS ID:C0856817 | DOID:8431 | physiological polycythemia | MONDO:0004563 +BMGC_DS07806,BMG_DS029295,UMLS ID:C0856818 | DOID:2835 | polycythemia due to hypoxia | MONDO:0005572 +BMGC_DS07807,BMG_DS029296,UMLS ID:C0856825 | acute graft versus host disease | MONDO:0020546 +BMGC_DS07808,BMG_DS029297,UMLS ID:C0856830 | MeSH ID:C563162 | Chondrocalcinosis 2 | chondrocalcinosis 2 | OMIM ID:118600 | MONDO:0007319 +BMGC_DS07809,BMG_DS029299,MONDO:0003206 | acquired hemangioma | UMLS ID:C0856897 | DOID:492 +BMGC_DS07810,BMG_DS029300,DOID:2687 | skin sarcoma | MONDO:0006414 | UMLS ID:C0856900 +BMGC_DS07811,BMG_DS029301,Retinol Deficiency | UMLS ID:C0856901 | MeSH ID:C536156 +BMGC_DS07812,BMG_DS029304,"MeSH ID:D051556 | UMLS ID:C0857007 | Hyperbilirubinemia, Neonatal" +BMGC_DS07813,BMG_DS029314,"Pneumonia, Staphylococcal | MONDO:0041879 | MeSH ID:D011023 | Staphylococcus Aureus Pneumonia | UMLS ID:C0857862 | staphylococcus aureus pneumonia" +BMGC_DS07814,BMG_DS029316,UMLS ID:C0858252 | DOID:3458 | MONDO:0004988 | breast adenocarcinoma +BMGC_DS07815,BMG_DS029317,early-onset posterior polar cataract | MONDO:0020378 | UMLS ID:C0858617 +BMGC_DS07816,BMG_DS029318,UMLS ID:C0858618 | Dyschromatopsia | OMIM ID:MTHU002533 +BMGC_DS07817,BMG_DS029319,"MeSH ID:D019575 | Blindness, Cortical | UMLS ID:C0858621 | Blindness, Cortical, Transient" +BMGC_DS07818,BMG_DS029323,diffuse glomerulonephritis | DOID:4781 | MONDO:0003137 | UMLS ID:C0859036 +BMGC_DS07819,BMG_DS029327,MONDO:0003413 | DOID:5375 | hair follicle neoplasm | UMLS ID:C0859920 +BMGC_DS07820,BMG_DS029329,transient hypogammaglobulinemia | DOID:625 | MONDO:0003827 | UMLS ID:C0859960 +BMGC_DS07821,BMG_DS029330,Idiopathic achalasia of esophagus | SNOMEDCT ID:715192004 | Achalasia cardia | Primary achalasia | idiopathic achalasia | Idiopathic achalasia of oesophagus | MONDO:0019635 | Idiopathic achalasia | Idiopathic achalasia of esophagus (disorder) | UMLS ID:C0859976 +BMGC_DS07822,BMG_DS029331,"MeSH ID:D002181 | UMLS ID:C0860029 | Vaginal Yeast Infections | Candidiasis, Vulvovaginal" +BMGC_DS07823,BMG_DS029333,UMLS ID:C0860158 | MONDO:0019155 | Leydig cell hypoplasia +BMGC_DS07824,BMG_DS029336,UMLS ID:C0860204 | Cholestatic liver disease | OMIM ID:MTHU026268 +BMGC_DS07825,BMG_DS029337,Chemical and Drug Induced Liver Injury | UMLS ID:C0860207 | drug-induced liver injury | MeSH ID:D056486 | MONDO:0005359 | Drug-Induced Liver Disease +BMGC_DS07826,BMG_DS029339,"MeSH ID:C563164 | hernia, double inguinal | UMLS ID:C0860251 | MONDO:0007720 | Hernia, Double Inguinal | OMIM ID:142350" +BMGC_DS07827,BMG_DS029342,Retinoic acid syndrome (disorder) | Differentiation syndrome | UMLS ID:C0860564 | Retinoic acid syndrome | SNOMEDCT ID:450887006 +BMGC_DS07828,BMG_DS029343,medullary breast carcinoma | breast medullary carcinoma | MONDO:0005063 | DOID:5605 | UMLS ID:C0860580 +BMGC_DS07829,BMG_DS029348,DOID:3010 | MONDO:0002486 | UMLS ID:C0861352 | lobular neoplasia +BMGC_DS07830,BMG_DS029349,UMLS ID:C0861854 | DOID:5624 | MONDO:0003549 | adenosquamous bile duct carcinoma +BMGC_DS07831,BMG_DS029350,DOID:7032 | UMLS ID:C0861855 | extrahepatic bile duct clear cell adenocarcinoma | bile duct clear cell adenocarcinoma | MONDO:0004081 +BMGC_DS07832,BMG_DS029351,UMLS ID:C0861856 | DOID:3698 | bile duct mucinous adenocarcinoma | MONDO:0002739 | extrahepatic bile duct mucinous adenocarcinoma +BMGC_DS07833,BMG_DS029352,UMLS ID:C0861858 | MONDO:0004039 | papillary extrahepatic bile duct adenocarcinoma | DOID:6931 +BMGC_DS07834,BMG_DS029353,DOID:3494 | UMLS ID:C0861859 | bile duct signet ring cell carcinoma | extrahepatic bile duct signet ring cell carcinoma | MONDO:0002664 +BMGC_DS07835,BMG_DS029354,UMLS ID:C0861861 | DOID:5537 | squamous cell bile duct carcinoma | MONDO:0003500 +BMGC_DS07836,BMG_DS029355,B-lymphoblastic leukemia/lymphoma | UMLS ID:C0862030 | DOID:0080630 +BMGC_DS07837,BMG_DS029357,malignant epithelial mesothelioma | UMLS ID:C0862312 | malignant epithelioid mesothelioma | MONDO:0005599 | DOID:4489 +BMGC_DS07838,BMG_DS029359,MONDO:0002836 | DOID:4013 | urethra transitional cell carcinoma | UMLS ID:C0863015 +BMGC_DS07839,BMG_DS029360,MONDO:0001992 | UMLS ID:C0863024 | rete testis adenocarcinoma | DOID:14544 +BMGC_DS07840,BMG_DS029361,testicular Leydig cell tumor | DOID:4756 | UMLS ID:C0863027 | MONDO:0003124 +BMGC_DS07841,BMG_DS029362,Ewing sarcoma | UMLS ID:C0863029 | DOID:3369 +BMGC_DS07842,BMG_DS029386,"ICD10 ID:D75.1 | Polycythemia due to fall in plasma volume | ICD11 ID:3A81.Z | UMLS ID:C0865275 | Acquired polycythaemia, unspecified | familial erythrocytosis 2 | DOID:0060474" +BMGC_DS07843,BMG_DS029389,Parkinson's disease 19A | Parkinson's disease 23 | Idiopathic Parkinsonism or Parkinson's disease | Parkinson's disease 4 | ICD10 ID:G20 | UMLS ID:C0865475 | DOID:0060891;DOID:0060896;DOID:0060895 +BMGC_DS07844,BMG_DS029390,Parkinson's disease 19A | Parkinson's disease 23 | Primary Parkinsonism or Parkinson's disease | Parkinson's disease 4 | UMLS ID:C0865476 | ICD10 ID:G20 | DOID:0060891;DOID:0060896;DOID:0060895 +BMGC_DS07845,BMG_DS029402,DOID:5641 | MONDO:0003563 | diffuse pulmonary fibrosis | UMLS ID:C0865849 +BMGC_DS07846,BMG_DS029415,SNOMEDCT ID:402356004 | Chronic graft-versus-host disease | UMLS ID:C0867389 | Chronic graft-versus-host disease (disorder) | MONDO:0020547 | ICD10 ID:D89.811 | chronic graft versus host disease | Chronic graft versus host disease +BMGC_DS07847,BMG_DS029420,SNOMEDCT ID:240307008 | Hypocalcemic tetany in newborn | Late neonatal hypocalcaemia | Hypocalcaemic tetany in newborn | UMLS ID:C0869150 | Late neonatal hypocalcemia (disorder) | Late neonatal hypocalcemia +BMGC_DS07848,BMG_DS029425,SNOMEDCT ID:399617002 | Carditis (disorder) | MeSH ID:D009205 | Myocarditis | MONDO:0024636 | inflammation of heart layer | UMLS ID:C0869523 | Carditis +BMGC_DS07849,BMG_DS029429,SNOMEDCT ID:201059003 | Keratosis | SNOMEDCT ID:238623003 | Acquired keratoderma palmaris et plantaris | Keratoma | UMLS ID:C0870082 | Hyperkeratosis | Hyperkeratosis of skin | Tylosis | OMIM ID:MTHU001049 | SNOMEDCT ID:20637002 | Excessive cornification | SNOMEDCT ID:396228006 | SNOMEDCT ID:26996000 | Hyperkeratosis (disorder) | Hyperkeratosis (morphologic abnormality) | HK - Hyperkeratosis | Acquired keratosis palmaris et plantaris | Hyperkeratosis palmoplantaris climacterica | Callosity | Tyloma | Skin callus | Keratoderma climactericum +BMGC_DS07850,BMG_DS029433,Sarcopenia | MONDO:0006516 | Sarcopenia (disorder) | ICD10 ID:M62.84 | obsolete sarcopenia | SNOMEDCT ID:772791006 | UMLS ID:C0872084 | MeSH ID:D055948 | Loss of skeletal muscle mass +BMGC_DS07851,BMG_DS029434,UMLS ID:C0872218 | MONDO:0017575 | mitochondrial neurogastrointestinal encephalomyopathy +BMGC_DS07852,BMG_DS029440,Schimke immuno-osseous dysplasia | OMIM ID:242900 | MONDO:0009458 | DOID:0060490 | UMLS ID:C0877024 +BMGC_DS07853,BMG_DS029449,Patellofemoral Pain Syndrome | MeSH ID:D046788 | MONDO:0006894 | patellofemoral pain syndrome | DOID:14284 | UMLS ID:C0877149 +BMGC_DS07854,BMG_DS029450,UMLS ID:C0877152 | MONDO:0002845 | DOID:4037 | necrotizing gastritis +BMGC_DS07855,BMG_DS029454,UMLS ID:C0877208 | DOID:9997 | Peripartum cardiomyopathy | MONDO:0018920 | Cardiomyopathy in the puerperium | ICD10 ID:O90.3 | ICD11 ID:JB44.3 | peripartum cardiomyopathy +BMGC_DS07856,BMG_DS029460,thyroid malformation | UMLS ID:C0877367 | MONDO:0004564 | DOID:8433 +BMGC_DS07857,BMG_DS029461,DOID:6621 | cerebral angioma | UMLS ID:C0877388 | MONDO:0003948 | cerebral hemangioma +BMGC_DS07858,BMG_DS029464,MeSH ID:C563167 | UMLS ID:C0877431 | MONDO:0007583 | obsolete exostoses of heel | OMIM ID:133600 | Exostoses Of Heel +BMGC_DS07859,BMG_DS029466,MONDO:0044070 | MeSH ID:D058387 | Candidemia (disorder) | UMLS ID:C0877445 | Candidemia | SNOMEDCT ID:432261003 | candidemia +BMGC_DS07860,BMG_DS029469,MONDO:0004185 | UMLS ID:C0877572 | ovarian serous cystadenofibroma | DOID:7320 +BMGC_DS07861,BMG_DS029470,UMLS ID:C0877611 | DOID:4413 | cervix melanoma | MONDO:0002988 +BMGC_DS07862,BMG_DS029473,Ewing sarcoma | UMLS ID:C0877849 | MONDO:0006094 | Askin tumor | DOID:3369 +BMGC_DS07863,BMG_DS029474,Cerebral Arteriosclerosis | UMLS ID:C0877854 | MeSH ID:D002537 | Intracranial Arteriosclerosis +BMGC_DS07864,BMG_DS029475,UMLS ID:C0877855 | Intracranial Embolism and Thrombosis | MeSH ID:D002542 | Cerebral Embolism and Thrombosis +BMGC_DS07865,BMG_DS029476,MONDO:0003730 | DOID:6004 | UMLS ID:C0877858 | aleukemic leukemia +BMGC_DS07866,BMG_DS029478,MONDO:0006658 | UMLS ID:C0878486 | MeSH ID:D050379 | Arteriolosclerosis | SNOMEDCT ID:17941002 | DOID:5162 | arteriolosclerosis | Arteriolosclerosis (morphologic abnormality) +BMGC_DS07867,BMG_DS029483,UMLS ID:C0878544 | Cardiomyopathies | MONDO:0004994 | DOID:0050700 | MeSH ID:D009202 | cardiomyopathy +BMGC_DS07868,BMG_DS029484,Diffuse panbronchiolitis | SNOMEDCT ID:430476004 | UMLS ID:C0878555 | OMIM ID:604809 | diffuse panbronchiolitis | MeSH ID:C536174 | Diffuse panbronchiolitis (disorder) | MONDO:0011490 +BMGC_DS07869,BMG_DS029486,MONDO:0044033 | Posterior Leukoencephalopathy Syndrome | MeSH ID:D054038 | UMLS ID:C0878576 | posterior leukoencephalopathy syndrome +BMGC_DS07870,BMG_DS029488,"OMIM ID:243400 | UMLS ID:C0878587 | MONDO:0009472 | acetylation, slow" +BMGC_DS07871,BMG_DS029489,MeSH ID:D046628 | UMLS ID:C0878588 | Sphincter of Oddi Dysfunction +BMGC_DS07872,BMG_DS029492,MONDO:0018153 | Erdheim-Chester Disease | DOID:4329 | Erdheim-Chester disease | UMLS ID:C0878675 | MeSH ID:D031249 +BMGC_DS07873,BMG_DS029493,MeSH ID:C535325 | BH4-deficient hyperphenylalaninemia A | UMLS ID:C0878676 | OMIM ID:261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | DOID:0090106 | MONDO:0009863 +BMGC_DS07874,BMG_DS029494,OMIM ID:300257 | Glycogen Storage Disease Type IIb | MeSH ID:D052120 | UMLS ID:C0878677 | Danon disease | DOID:0050437 | MONDO:0010281 +BMGC_DS07875,BMG_DS029495,Dent disease | UMLS ID:C0878681 | MONDO:0015612 | Dent's disease (disorder) | DOID:0050699 | SNOMEDCT ID:444645005 | Dent's disease +BMGC_DS07876,BMG_DS029496,aceruloplasminemia | MONDO:0011426 | UMLS ID:C0878682 | Deficiency of ferroxidase (disorder) | Deficiency of ferroxidase | Deficiency of ceruloplasmin | Deficiency of caeruloplasmin | SNOMEDCT ID:124224004 | OMIM ID:604290 +BMGC_DS07877,BMG_DS029497,"MONDO:0009878 | pituitary hormone deficiency, combined, 2 | UMLS ID:C0878683 | OMIM ID:262600" +BMGC_DS07878,BMG_DS029498,OMIM ID:269880 | UMLS ID:C0878684 | DOID:0111454 | MeSH ID:C537327 | SHORT syndrome | MONDO:0010026 +BMGC_DS07879,BMG_DS029499,Chronic localised conjunctival chemosis | UMLS ID:C0878693 | SNOMEDCT ID:408663001 | Conjunctivochalasis | Chronic localized conjunctival chemosis | conjunctivochalasis | Conjunctivochalasis (disorder) | DOID:4250 | MONDO:0002931 | ICD10 ID:H11.82 +BMGC_DS07880,BMG_DS029503,Synovitis | MeSH ID:D013585 | DOID:12225 | Plica syndrome | Synovial Plica Syndrome | UMLS ID:C0878705 +BMGC_DS07881,BMG_DS029504,"Overactive Bladder | MeSH ID:D053201 | overactive bladder syndrome | UMLS ID:C0878773 | DOID:0070355 | Urinary Bladder, Overactive | MONDO:0006624 | overactive bladder" +BMGC_DS07882,BMG_DS029506,DOID:6163 | familial renal papillary carcinoma | OMIM ID:605074 | hereditary papillary renal cell carcinoma | UMLS ID:C0879257 | MONDO:0003789 +BMGC_DS07883,BMG_DS029507,familial renal oncocytoma | hereditary kidney oncocytoma | DOID:6244 | MONDO:0003824 | UMLS ID:C0879606 +BMGC_DS07884,BMG_DS029508,Cerebral Infarction | UMLS ID:C0887799 | MeSH ID:D002544 | Posterior Choroidal Artery Infarction +BMGC_DS07885,BMG_DS029510,UMLS ID:C0887833 | pancreatic ductal carcinoma | DOID:3587 +BMGC_DS07886,BMG_DS029511,UMLS ID:C0887846 | DOID:6003 | aleukemic leukemia cutis | MONDO:0003729 +BMGC_DS07887,BMG_DS029512,"MONDO:0008265 | OMIM ID:174050 | MeSH ID:D016891 | polycystic liver disease 1 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | UMLS ID:C0887850 | Polycystic Kidney, Autosomal Dominant" +BMGC_DS07888,BMG_DS029516,"Becker Muscular Dystrophy | Becker muscular dystrophy | MONDO:0010311 | UMLS ID:C0917713 | OMIM ID:300376 | MeSH ID:D020388 | Muscular Dystrophy, Duchenne" +BMGC_DS07889,BMG_DS029517,MeSH ID:D031845 | Hajdu-Cheney syndrome | DOID:2736 | OMIM ID:102500 | Acroosteolysis dominant type | Hajdu-Cheney Syndrome | MONDO:0007057 | UMLS ID:C0917715 +BMGC_DS07890,BMG_DS029518,MeSH ID:D010930 | UMLS ID:C0917716 | Plague | Pulmonic Plague +BMGC_DS07891,BMG_DS029519,"OMIM ID:535000 | Leber hereditary optic neuropathy | DOID:705 | UMLS ID:C0917796 | MONDO:0010788 | Optic Atrophy, Hereditary, Leber | MeSH ID:D029242" +BMGC_DS07892,BMG_DS029520,MONDO:0005299 | brain ischemia | UMLS ID:C0917798 +BMGC_DS07893,BMG_DS029521,Hypersomnia | Excessive sleepiness | MeSH ID:D006970 | ICD10 ID:G47.1 | Hypersomnia (excessive sleeping) | hypersomnia | OMIM ID:MTHU062007 | Idiopathic hypersomnia | ICD11 ID:7A21 | Sleeps too much | Hypersomnia (disorder) | UMLS ID:C0917799 | MONDO:0005466 | Excessive sleep | Disorders of Excessive Somnolence | SNOMEDCT ID:77692006 +BMGC_DS07894,BMG_DS029522,"Epilepsy, Myoclonic, Infantile | MONDO:0011506 | Epilepsies, Myoclonic | MeSH ID:D004831 | familial infantile myoclonic epilepsy | UMLS ID:C0917800 | OMIM ID:605021" +BMGC_DS07895,BMG_DS029523,insomnia | MONDO:0013600 | UMLS ID:C0917801 +BMGC_DS07896,BMG_DS029524,MONDO:0007154 | OMIM ID:108010 | UMLS ID:C0917804 | arteriovenous malformations of the brain +BMGC_DS07897,BMG_DS029525,"MeSH ID:D002546 | Transient Cerebral Ischemia | Ischemic Attack, Transient | UMLS ID:C0917805" +BMGC_DS07898,BMG_DS029526,"UMLS ID:C0917807 | Haemophilus influenzae Meningitis Type B | MeSH ID:D008583 | Meningitis, Haemophilus | DOID:0080179 | haemophilus meningitis" +BMGC_DS07899,BMG_DS029528,MeSH ID:D009408 | UMLS ID:C0917811 | Nerve Entrapment | Nerve Compression Syndromes +BMGC_DS07900,BMG_DS029529,MeSH ID:D013746 | Tetany | Tetanilla | UMLS ID:C0917812 +BMGC_DS07901,BMG_DS029531,DOID:13185 | UMLS ID:C0917875 | esophageal diverticulosis | MONDO:0006754 +BMGC_DS07902,BMG_DS029534,"Muscular Atrophy, Spinal | DOID:318 | MeSH ID:D009134 | progressive muscular atrophy | Progressive Muscular Atrophy | UMLS ID:C0917981" +BMGC_DS07903,BMG_DS029535,Acro-Osteolysis | acroosteolysis | Hajdu-Cheney syndrome | MeSH ID:D030981 | DOID:2736 | OMIM ID:102400 | MONDO:0007056 | UMLS ID:C0917990 +BMGC_DS07904,BMG_DS029536,MeSH ID:D002532 | UMLS ID:C0917996 | Cerebral Aneurysm | Intracranial Aneurysm +BMGC_DS07905,BMG_DS029537,MONDO:0021068 | DOID:2394 | ovarian neoplasm | UMLS ID:C0919267 | ovarian cancer +BMGC_DS07906,BMG_DS029538,optic papillitis | Decreased Intraocular Pressure-Associated Papilledema | DOID:10175 | UMLS ID:C0919308 | Papilledema | MeSH ID:D010211 +BMGC_DS07907,BMG_DS029542,"MeSH ID:D056824 | Upper Extremity Deep Vein Thrombosis, Primary | UMLS ID:C0919631 | Upper Extremity Deep Vein Thrombosis" +BMGC_DS07908,BMG_DS029543,DOID:4638 | UMLS ID:C0919638 | MONDO:0003068 | postauricular lymphadenitis +BMGC_DS07909,BMG_DS029548,UMLS ID:C0919747 | Cytokine Release Syndrome | MeSH ID:D000080424 | Cytokine Storm +BMGC_DS07910,BMG_DS029549,axillary adenitis | DOID:4640 | MONDO:0003070 | axillary lymphadenitis | UMLS ID:C0919797 +BMGC_DS07911,BMG_DS029560,eyelid carcinoma | DOID:6425 | MONDO:0003876 | UMLS ID:C0920196 +BMGC_DS07912,BMG_DS029562,DOID:5271 | MONDO:0003360 | UMLS ID:C0920305 | small intestine leiomyosarcoma +BMGC_DS07913,BMG_DS029564,"DOID:5684 | spondyloepimetaphyseal dysplasia, Sponastrime type | UMLS ID:C0920349" +BMGC_DS07914,BMG_DS029565,"Lymphocytic thyroiditis | autoimmune thyroid disease | Autoimmune thyroiditis | Autoimmune thyroiditis, unspecified | Hashimoto's thyroiditis | Autoimmune thyroiditis (disorder) | SNOMEDCT ID:21983002 | Thyroiditis: [chronic lymphocytic] or [autoimmune] or [Hashimoto's] (disorder) | ICD11 ID:5A03.2Z | MONDO:0005623 | OMIM ID:MTHU037300 | DOID:7188 | Hashimoto thyroiditis | UMLS ID:C0920350 | SNOMEDCT ID:190297000 | Hashimoto's disease | Thyroiditis: [chronic lymphocytic] or [autoimmune] or [Hashimoto's] | Struma lymphomatosis | SNOMEDCT ID:66944004 | autoimmune thyroiditis | ICD10 ID:E06.3 | Autoimmune lymphocytic chronic thyroiditis | Hashimoto thyroiditis (disorder) | Struma lymphomatosa | Chronic lymphocytic thyroiditis" +BMGC_DS07915,BMG_DS029569,complete androgen insensitivity syndrome | Testicular Feminization | MONDO:0021023 | UMLS ID:C0936016 | Androgen-Insensitivity Syndrome | MeSH ID:D013734 | DOID:0080775 +BMGC_DS07916,BMG_DS029570,DOID:8455 | UMLS ID:C0936215 | MeSH ID:D026681 | pyridoxine deficiency anemia | Vitamin B 6 Deficiency +BMGC_DS07917,BMG_DS029572,UMLS ID:C0936243 | HIV-1-Associated Cognitive Motor Complex | AIDS Dementia Complex | MeSH ID:D015526 +BMGC_DS07918,BMG_DS029574,Brain Embolism and Thrombosis | MeSH ID:D002542 | UMLS ID:C0936247 | Intracranial Embolism and Thrombosis +BMGC_DS07919,BMG_DS029575,MONDO:0002360 | UMLS ID:C0936248 | chondroma | DOID:2602 +BMGC_DS07920,BMG_DS029576,eczema herpeticum | MeSH ID:D007617 | DOID:9123 | UMLS ID:C0936250 | Kaposi Varicelliform Eruption | Eczema Herpeticum +BMGC_DS07921,BMG_DS029577,UMLS ID:C0936251 | MeSH ID:D011128 | Polyradiculopathy | Polyradiculitis +BMGC_DS07922,BMG_DS029579,UMLS ID:C0936256 | Hyperlysinemias | MeSH ID:D020167 | Lysine Alpha-Ketoglutarate Reductase Deficiency Disease +BMGC_DS07923,BMG_DS029581,Brain Thrombus | MeSH ID:D020767 | UMLS ID:C0936261 | Intracranial Thrombosis +BMGC_DS07924,BMG_DS029582,Intracranial Thrombosis | MeSH ID:D020767 | UMLS ID:C0936263 | Cerebral Thrombus +BMGC_DS07925,BMG_DS029583,"Amyloid Neuropathies, Familial | Familial Amyloid Polyneuropathy, Type IV | MeSH ID:D028227 | UMLS ID:C0936273" +BMGC_DS07926,BMG_DS029584,embryoma | DOID:4766 | UMLS ID:C0936282 | MONDO:0005565 | blastoma +BMGC_DS07927,BMG_DS029585,lipoma of colon | DOID:10655 | UMLS ID:C0940607 | MONDO:0001091 +BMGC_DS07928,BMG_DS029593,Gallbladder calculus (disorder) | Biliary calculus (disorder) | GS - Gallstone | cholecystolithiasis | Gallstones | MeSH ID:D041761 | Cholecystolithiasis | Biliary calculus | Gallbladder stones | DOID:11151 | Gallstone | SNOMEDCT ID:44900007 | SNOMEDCT ID:235919008 | MONDO:0006698 | Gallbladder calculus | UMLS ID:C0947622 +BMGC_DS07929,BMG_DS029596,SNOMEDCT ID:422504002 | Ischemic stroke (disorder) | UMLS ID:C0948008 | Ischemic stroke | Ischaemic stroke | OMIM ID:MTHU000098 +BMGC_DS07930,BMG_DS029597,Bacterial gastritis | SNOMEDCT ID:723096000 | UMLS ID:C0948039 | Gastritis caused by bacterium | Gastritis caused by bacterium (disorder) | DOID:4033 | bacterial gastritis | MONDO:0002842 +BMGC_DS07931,BMG_DS029601,acute coronary syndrome | Acute Coronary Syndrome | UMLS ID:C0948089 | MeSH ID:D054058 | MONDO:0005542 +BMGC_DS07932,BMG_DS029605,Respirat distress synd-adult | (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) | Tracheomalacia (disorder) | MONDO:0019804 | SNOMEDCT ID:155627006 | Respiratory disease NOS | Resp. distress synd. - adult | Pmeumomediastinum | SNOMEDCT ID:95434006 | UMLS ID:C0948187 | Pneumomediastinum | tracheomalacia | OMIM ID:MTHU012591 | SNOMEDCT ID:266411000 | Adult respiratory distress syndrome | Tracheomalacia | MeSH ID:D055090 +BMGC_DS07933,BMG_DS029607,SNOMEDCT ID:1137353009 | Infection caused by Citrobacter (disorder) | Citrobacter infection | UMLS ID:C0948204 | Infection caused by Citrobacter +BMGC_DS07934,BMG_DS029609,ovarian adenocarcinoma | ovary adenocarcinoma | UMLS ID:C0948216 | DOID:3713 | MONDO:0002752 +BMGC_DS07935,BMG_DS029611,cytokine release syndrome | UMLS ID:C0948245 | MeSH ID:D000080424 | Cytokine Release Syndrome | MONDO:0600008 +BMGC_DS07936,BMG_DS029614,UMLS ID:C0948268 | Hemodynamic instability (finding) | Haemodynamic instability | OMIM ID:MTHU070057 | Hemodynamic instability | SNOMEDCT ID:422773005 +BMGC_DS07937,BMG_DS029621,MONDO:0009367 | DOID:0111255 | OMIM ID:236700 | McKusick-Kaufman syndrome | UMLS ID:C0948368 +BMGC_DS07938,BMG_DS029629,Coronary Restenosis | MONDO:0005355 | coronary restenosis | MeSH ID:D023903 | DOID:4247 | UMLS ID:C0948480 +BMGC_DS07939,BMG_DS029635,Gastritis caused by fungus (disorder) | Fungal gastritis | UMLS ID:C0948638 | DOID:4034 | fungal gastritis | SNOMEDCT ID:723097009 | Gastritis caused by fungus | MONDO:0002843 +BMGC_DS07940,BMG_DS029638,pituitary hypoplasia | MONDO:0004201 | UMLS ID:C0948740 | DOID:7378 +BMGC_DS07941,BMG_DS029639,MONDO:0001502 | UMLS ID:C0948749 | retroperitoneum carcinoma | DOID:12342 +BMGC_DS07942,BMG_DS029640,salivary gland carcinoma | MONDO:0000521 | UMLS ID:C0948750 +BMGC_DS07943,BMG_DS029643,Gastrointestinal hypomotility (disorder) | SNOMEDCT ID:421807004 | Gastrointestinal hypomotility | UMLS ID:C0948779 +BMGC_DS07944,BMG_DS029646,SNOMEDCT ID:370999003 | Hypergonadotropic hypogonadism | Primary hypogonadism | UMLS ID:C0948896 | OMIM ID:MTHU055789 | Primary hypogonadism (disorder) +BMGC_DS07945,BMG_DS029648,MONDO:0002488 | intraductal breast benign neoplasm | UMLS ID:C0948967 | DOID:3013 | intraductal breast neoplasm +BMGC_DS07946,BMG_DS029649,rectum cancer | UMLS ID:C0949022 | DOID:1993 | MONDO:0006519 | rectal cancer +BMGC_DS07947,BMG_DS029651,MONDO:0021392 | UMLS ID:C0949059 | polyp of large intestine +BMGC_DS07948,BMG_DS029652,SNOMEDCT ID:425464007 | Nosocomial pneumonia | Nosocomial pneumonia (disorder) | UMLS ID:C0949083 | HAP - hospital acquired pneumonia | Hospital acquired pneumonia +BMGC_DS07949,BMG_DS029653,UMLS ID:C0949116 | Diamond-Blackfan anaemia | SNOMEDCT ID:191236003 | Anaemia: [congenital hypoplastic] or [constitutional aplastic without mention of malformation] (disorder) | DOID:1342 | congenital hypoplastic anemia | Constitutional aplastic anemia without mention of malformation | Congenital red cell aplasia | Diamond-Blackfan syndrome | SNOMEDCT ID:188588001 | Anemia: [congenital hypoplastic] or [constitutional aplastic without mention of malformation] | Familial hypoplastic anaemia | OMIM ID:MTHU011578 | Familial hypoplastic anemia | Anaemia: [congenital hypoplastic] or [constitutional aplastic without mention of malformation] | Congenital hypoplastic anaemia | Chronic constitutional pure red cell anemia | Constitutional aplastic anaemia without mention of malformation | Chronic constitutional pure red cell anaemia | Chronic constitutional pure red cell aplasia | Diamond-Blackfan anemia | Congenital erythroid hypoplasia | Adenosine deaminase superactivity (disorder) | Congenital hypoplastic anemia +BMGC_DS07950,BMG_DS029654,acute laryngitis | DOID:9396 | UMLS ID:C0949123 | Acute laryngitis with obstruction | Acute laryngitis with obstruction (disorder) | SNOMEDCT ID:408669002 +BMGC_DS07951,BMG_DS029664,UMLS ID:C0949272 | ileocolitis | MeSH ID:D003424 | Ileocolitis | Crohn Disease | MONDO:0005534 +BMGC_DS07952,BMG_DS029665,OMIM ID:600171 | UMLS ID:C0949331 | gonadal agenesis | MONDO:0010838 +BMGC_DS07953,BMG_DS029666,"MeSH ID:D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | UMLS ID:C0949367 | Neonatal Diseases and Abnormalities" +BMGC_DS07954,BMG_DS029667,Luft Disease | MeSH ID:D017240 | UMLS ID:C0949496 | Mitochondrial Myopathies +BMGC_DS07955,BMG_DS029669,OMIM ID:MTHU048670 | Porokeratosis | Mibelli's disease | SNOMEDCT ID:80432009 | UMLS ID:C0949506 | MeSH ID:D017499 | porokeratosis of Mibelli | Porokeratosis of Mibelli | MONDO:0019141 | Porokeratosis of Mibelli (disorder) | SNOMEDCT ID:201087007 +BMGC_DS07956,BMG_DS029670,wheat allergy | DOID:3660 | UMLS ID:C0949570 +BMGC_DS07957,BMG_DS029671,OMIM ID:233300 | ovarian dysgenesis 1 | 46 XX gonadal dysgenesis | UMLS ID:C0949595 | MONDO:0024463 | DOID:14450 +BMGC_DS07958,BMG_DS029673,"Cardiomyopathy, Hypertrophic, Familial | UMLS ID:C0949658 | MeSH ID:D024741 | DOID:0080326 | familial hypertrophic cardiomyopathy | MONDO:0024573" +BMGC_DS07959,BMG_DS029674,Tauopathies | tauopathy | MeSH ID:D024801 | UMLS ID:C0949664 | MONDO:0005574 | DOID:680 +BMGC_DS07960,BMG_DS029676,MeSH ID:D025241 | Inflammatory spondylopathy | SNOMEDCT ID:371082009 | UMLS ID:C0949690 | inflammatory spondylopathy | Arthritis of spine | MONDO:0001434 | Arthritis of spine (disorder) | Spondylarthritis +BMGC_DS07961,BMG_DS029677,MONDO:0005095 | DOID:1123 | Spondylarthropathies | MeSH ID:D025242 | UMLS ID:C0949691 | spondyloarthropathy +BMGC_DS07962,BMG_DS029678,MONDO:0005927 | MeSH ID:D027601 | UMLS ID:C0949804 | polyomavirus infectious disease | Polyomavirus Infections +BMGC_DS07963,BMG_DS029679,"Electron Transport Chain Deficiencies, Mitochondrial | Mitochondrial Diseases | UMLS ID:C0949855 | MeSH ID:D028361" +BMGC_DS07964,BMG_DS029680,MeSH ID:D028361 | Mitochondrial Diseases | UMLS ID:C0949856 | Oxidative Phosphorylation Deficiencies +BMGC_DS07965,BMG_DS029681,Mitochondrial Respiratory Chain Deficiencies | MeSH ID:D028361 | UMLS ID:C0949857 | Mitochondrial Diseases +BMGC_DS07966,BMG_DS029684,OMIM ID:194080 | Denys-Drash Syndrome | MONDO:0008682 | UMLS ID:C0950121 | MeSH ID:D030321 | Denys-Drash syndrome | DOID:3764 +BMGC_DS07967,BMG_DS029685,OMIM ID:136680 | Frasier Syndrome | MONDO:0007635 | Frasier syndrome | UMLS ID:C0950122 | MeSH ID:D052159 | DOID:0050438 +BMGC_DS07968,BMG_DS029686,"UMLS ID:C0950123 | MeSH ID:D030342 | Genetic Diseases, Inborn" +BMGC_DS07969,BMG_DS029687,Disease due to Papilloma virus | SNOMEDCT ID:30415006 | Disease caused by Papillomavirus (disorder) | Disease caused by Papilloma virus | Disease caused by Papillomavirus | UMLS ID:C0950124 +BMGC_DS07970,BMG_DS029688,MeSH ID:D025063 | Chromosome Disorders | Autosomal Chromosome Disorders | UMLS ID:C0969687 +BMGC_DS07971,BMG_DS029690,Aphasia | SNOMEDCT ID:20301004 | Dysphasia (finding) | aphasia | ICD10 ID:R47.02 | Dysphasia | MeSH ID:D001037 | Dysphasia (disorder) | SNOMEDCT ID:229653009 | DOID:0060046 | OMIM ID:MTHU036833 | UMLS ID:C0973461 +BMGC_DS07972,BMG_DS029692,Type 1 Duane Retraction Syndrome | UMLS ID:C0994516 | OMIM ID:126800 | Duane Retraction Syndrome | MeSH ID:D004370 | MONDO:0024265 | Duane syndrome type 1 +BMGC_DS07973,BMG_DS029694,Drug Resistant Epilepsy | UMLS ID:C1096063 | MeSH ID:D000069279 +BMGC_DS07974,BMG_DS029701,Kinsbourne Syndrome | UMLS ID:C1096154 | MeSH ID:D053578 | Opsoclonus-Myoclonus Syndrome +BMGC_DS07975,BMG_DS029702,Macrophage Activation Syndrome | MONDO:0015545 | macrophage activation syndrome | MeSH ID:D055501 | UMLS ID:C1096155 +BMGC_DS07976,BMG_DS029712,MONDO:0002117 | UMLS ID:C1096346 | DOID:1796 | pancreas sarcoma +BMGC_DS07977,BMG_DS029713,neurofibroma of the heart | DOID:9300 | MONDO:0004752 | UMLS ID:C1096349 +BMGC_DS07978,BMG_DS029720,Peptostreptococcus infection | SNOMEDCT ID:135341000119101 | Peptostreptococcus infection (disorder) | UMLS ID:C1096562 | Peptostreptococcus infectious disease | MONDO:0024412 +BMGC_DS07979,BMG_DS029725,UMLS ID:C1096638 | MONDO:0002702 | ovarian cystadenocarcinoma | DOID:3605 +BMGC_DS07980,BMG_DS029726,UMLS ID:C1096639 | appendix mucinous cystadenocarcinoma | DOID:3607 | MONDO:0002703 +BMGC_DS07981,BMG_DS029731,"UMLS ID:C1096902 | MONDO:0010027 | free sialic acid storage disease, infantile form | Sialic Acid Storage Disease | MeSH ID:D029461 | Infantile Sialic Acid Storage Disease | OMIM ID:269920" +BMGC_DS07982,BMG_DS029732,"Adult sialic acid storage disease | Salla disease | OMIM ID:604369 | SNOMEDCT ID:87074006 | UMLS ID:C1096903 | Sialuria, Finnish type | MONDO:0011449 | Salla disease (disorder)" +BMGC_DS07983,BMG_DS029733,DOID:3003 | MONDO:0002482 | nipple benign neoplasm | nipple neoplasm | UMLS ID:C1112166 +BMGC_DS07984,BMG_DS029736,OMIM ID:MTHU035590 | Sensorimotor neuropathy | UMLS ID:C1112256 +BMGC_DS07985,BMG_DS029739,epiglottis cancer | UMLS ID:C1112382 | MONDO:0004473 | DOID:8133 +BMGC_DS07986,BMG_DS029741,soft tissue peripheral neuroepithelioma | UMLS ID:C1112437 | DOID:4389 | peripheral primitive neuroectodermal tumor of soft tissues | MONDO:0002982 +BMGC_DS07987,BMG_DS029744,esophagus small cell carcinoma | DOID:7134 | UMLS ID:C1112474 | MONDO:0004116 | esophageal small cell neuroendocrine carcinoma +BMGC_DS07988,BMG_DS029745,MONDO:0020333 | aggressive systemic mastocytosis | UMLS ID:C1112486 | DOID:4798 +BMGC_DS07989,BMG_DS029747,DOID:9655 | UMLS ID:C1112530 | oral mucosa leukoplakia +BMGC_DS07990,BMG_DS029748,UMLS ID:C1112570 | paraneoplastic pemphigus | DOID:0080852 | MONDO:0018974 +BMGC_DS07991,BMG_DS029750,"ICD11 ID:DA42.Z | DOID:4038 | ICD10 ID:K29.6 | UMLS ID:C1112577 | Granulomatous gastritis | Gastritis, unspecified | granulomatous gastritis | MONDO:0002846" +BMGC_DS07992,BMG_DS029755,MONDO:0004695 | UMLS ID:C1112746 | liver lymphoma | DOID:901 +BMGC_DS07993,BMG_DS029756,sickle cell-hemoglobin E disease syndrome | MONDO:0016671 | UMLS ID:C1112747 +BMGC_DS07994,BMG_DS029758,UMLS ID:C1134515 | MONDO:0002716 | childhood spinal cord tumor | DOID:3637 +BMGC_DS07995,BMG_DS029759,UMLS ID:C1134719 | invasive ductal carcinoma | DOID:3008 +BMGC_DS07996,BMG_DS029761,DOID:11149 | MONDO:0001206 | UMLS ID:C1135189 | aqueous misdirection +BMGC_DS07997,BMG_DS029762,"UMLS ID:C1135191 | DOID:9651 | MONDO:0006993 | Heart Failure, Systolic | systolic heart failure | MeSH ID:D054143" +BMGC_DS07998,BMG_DS029764,"diastolic heart failure | UMLS ID:C1135196 | Heart Failure, Diastolic | MONDO:0006727 | DOID:9775 | MeSH ID:D054144" +BMGC_DS07999,BMG_DS029768,ICD10 ID:K31.82 | Dieulafoy lesion (hemorrhagic) of stomach and duodenum | DOID:12070 | Dieulafoy lesion | UMLS ID:C1135229 +BMGC_DS08000,BMG_DS029779,"MeSH ID:D008585 | Meningitis, Meningococcal, Serogroup A | DOID:0080176 | Meningitis, Meningococcal | meningococcal meningitis | UMLS ID:C1135745" +BMGC_DS08001,BMG_DS029780,"MeSH ID:D008585 | Meningitis, Meningococcal, Serogroup B | DOID:0080176 | UMLS ID:C1135746 | Meningitis, Meningococcal | meningococcal meningitis" +BMGC_DS08002,BMG_DS029781,"Meningitis, Meningococcal, Serogroup C | UMLS ID:C1135747 | MeSH ID:D008585 | DOID:0080176 | Meningitis, Meningococcal | meningococcal meningitis" +BMGC_DS08003,BMG_DS029782,"UMLS ID:C1135773 | Acquired Metabolic Diseases, Nervous System | MeSH ID:D001928 | Brain Diseases, Metabolic" +BMGC_DS08004,BMG_DS029785,UMLS ID:C1135868 | MONDO:0018944 | DOID:3590 | gestational trophoblastic neoplasm +BMGC_DS08005,BMG_DS029787,UMLS ID:C1135873 | non-gestational choriocarcinoma | MONDO:0006871 | DOID:4320 +BMGC_DS08006,BMG_DS029788,"Wasting Disease, Chronic | MONDO:0002680 | MeSH ID:D034081 | UMLS ID:C1135993 | DOID:3530 | chronic wasting disease" +BMGC_DS08007,BMG_DS029789,UMLS ID:C1136033 | cutaneous mastocytosis | DOID:3663 | MONDO:0019023 | OMIM ID:154800 +BMGC_DS08008,BMG_DS029790,Plasma cell dyscrasia (disorder) | SNOMEDCT ID:71390001 | plasma cell neoplasm | OMIM ID:MTHU071575 | Plasma cell dyscrasia | DOID:6536 | UMLS ID:C1136084 +BMGC_DS08009,BMG_DS029792,UMLS ID:C1136135 | MeSH ID:D003681 | Dehydration | Water Stress +BMGC_DS08010,BMG_DS029795,"MeSH ID:D008585 | Meningitis, Meningococcal, Serogroup Y | DOID:0080176 | UMLS ID:C1136209 | Meningitis, Meningococcal | meningococcal meningitis" +BMGC_DS08011,BMG_DS029796,"Meningitis, Meningococcal, Serogroup W-135 | MeSH ID:D008585 | UMLS ID:C1136210 | DOID:0080176 | Meningitis, Meningococcal | meningococcal meningitis" +BMGC_DS08012,BMG_DS029797,"X-linked intellectual disability | OMIM ID:300495 | UMLS ID:C1136249 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED | MONDO:0100284 | OMIM ID:300427" +BMGC_DS08013,BMG_DS029798,HIV-Associated Lipodystrophy Syndrome | MeSH ID:D039682 | UMLS ID:C1136321 +BMGC_DS08014,BMG_DS029800,Sclerocystic Ovaries | UMLS ID:C1136382 | MeSH ID:D011085 | Polycystic Ovary Syndrome +BMGC_DS08015,BMG_DS029801,"Retinoschisis | MeSH ID:D041441 | Retinoschisis, Degenerative | UMLS ID:C1137478" +BMGC_DS08016,BMG_DS029803,"Genetic Diseases, X-Linked | MONDO:0000425 | UMLS ID:C1138434 | X-linked disease | MeSH ID:D040181" +BMGC_DS08017,BMG_DS029804,DOID:2394 | UMLS ID:C1140680 | OMIM ID:167000 | MONDO:0008170 | ovarian cancer +BMGC_DS08018,BMG_DS029805,familial long QT syndrome | SNOMEDCT ID:442917000 | Familial long QT syndrome | UMLS ID:C1141890 | Congenital long QT syndrome | Familial long QT syndrome (disorder) | MONDO:0019171 | Inherited long QT syndrome +BMGC_DS08019,BMG_DS029806,SNOMEDCT ID:129576003 | Purple glove syndrome (disorder) | Purple glove syndrome | UMLS ID:C1141936 +BMGC_DS08020,BMG_DS029811,SNOMEDCT ID:421784001 | Carnitine deficiency | Carnitine deficiency (disorder) | UMLS ID:C1142132 +BMGC_DS08021,BMG_DS029813,MONDO:0015263 | Brugada syndrome | UMLS ID:C1142166 | DOID:0050451 +BMGC_DS08022,BMG_DS029823,Bacteremia caused by Staphylococcus aureus | SNOMEDCT ID:428763004 | UMLS ID:C1142423 | Staphylococcus aureus bacteraemia | Bacteraemia caused by Staphylococcus aureus | Bacteremia caused by Staphylococcus aureus (finding) | Staphylococcus aureus bacteremia +BMGC_DS08023,BMG_DS029830,MONDO:0001292 | autonomic nervous system disorder | UMLS ID:C1145628 +BMGC_DS08024,BMG_DS029831,MONDO:0021113 | respiratory failure | UMLS ID:C1145670 | MeSH ID:D012131 | Respiratory Insufficiency | Respiratory Failure +BMGC_DS08025,BMG_DS029832,"MONDO:0002976 | UMLS ID:C1148546 | Diverticulosis, Stomach | DOID:4370 | stomach diverticulosis | Stomach Diverticulosis | MeSH ID:D045724" +BMGC_DS08026,BMG_DS029833,"UMLS ID:C1148551 | dyskeratosis congenita, X-linked | MONDO:0010584 | OMIM ID:305000 | MeSH ID:D019871 | Dyskeratosis Congenita | X-Linked Dyskeratosis Congenita" +BMGC_DS08027,BMG_DS029834,MONDO:0005461 | DOID:2870 | endometrial adenocarcinoma | UMLS ID:C1153706 | endometrium adenocarcinoma +BMGC_DS08028,BMG_DS029835,UMLS ID:C1167650 | chronic polyneuropathy | DOID:5221 | MONDO:0003335 +BMGC_DS08029,BMG_DS029838,Pericarditis | UMLS ID:C1167732 | Pleuropericarditis | MeSH ID:D010493 +BMGC_DS08030,BMG_DS029840,SNOMEDCT ID:129624009 | UMLS ID:C1168173 | Iris naevus syndrome | Iris nevus syndrome | MONDO:0020370 | Cogan-Reese syndrome | Nodular unilateral glaucoma | DOID:0060217 | Nodular unilateral glaucoma (disorder) | Cogan-Reese syndrome (disorder) | SNOMEDCT ID:404633004 +BMGC_DS08031,BMG_DS029842,UMLS ID:C1168198 | recurrent respiratory papillomatosis | MONDO:0018955 +BMGC_DS08032,BMG_DS029843,infectious otitis interna | DOID:3930 | UMLS ID:C1168225 | MONDO:0002812 | otitis interna +BMGC_DS08033,BMG_DS029847,DOID:5520 | UMLS ID:C1168401 | OMIM ID:275355 | head and neck squamous cell carcinoma | MONDO:0010150 +BMGC_DS08034,BMG_DS029850,UMLS ID:C1175175 | MeSH ID:D045169 | DOID:2945 | Severe Acute Respiratory Syndrome | MONDO:0005091 | severe acute respiratory syndrome +BMGC_DS08035,BMG_DS029851,breast ductal carcinoma | UMLS ID:C1176475 | DOID:3007 +BMGC_DS08036,BMG_DS029853,UMLS ID:C1257753 | Child Nutrition Disorders | Child Malnutrition | MeSH ID:D015362 +BMGC_DS08037,BMG_DS029854,Disorder of hyperalimentation | MeSH ID:D044343 | overnutrition | Overnutrition | Disorder of hyperalimentation (disorder) | Overfed | SNOMEDCT ID:302872003 | DOID:654 | MONDO:0003916 | UMLS ID:C1257763 +BMGC_DS08038,BMG_DS029855,Child Overnutrition | Child Nutrition Disorders | UMLS ID:C1257764 | MeSH ID:D015362 +BMGC_DS08039,BMG_DS029856,UMLS ID:C1257765 | Infant Overnutrition | Infant Nutrition Disorders | MeSH ID:D007228 +BMGC_DS08040,BMG_DS029857,"MeSH ID:D043202 | Steroid Metabolism, Inborn Errors | steroid inherited metabolic disorder | MONDO:0005523 | UMLS ID:C1257809 | DOID:1701" +BMGC_DS08041,BMG_DS029858,UMLS ID:C1257843 | Clostridium difficile colitis | DOID:0060185 +BMGC_DS08042,BMG_DS029859,"Clostridium Enterocolitis | Enterocolitis, Pseudomembranous | Clostridium difficile colitis | UMLS ID:C1257844 | MeSH ID:D004761 | DOID:0060185" +BMGC_DS08043,BMG_DS029860,"UMLS ID:C1257845 | Enterocolitis, Pseudomembranous | Clostridium difficile colitis | MeSH ID:D004761 | Enteritis, Pseudomembranous | DOID:0060185" +BMGC_DS08044,BMG_DS029867,UMLS ID:C1257877 | MONDO:0000550 | extra-adrenal sympathetic paraganglioma +BMGC_DS08045,BMG_DS029869,Intestinal Polyposis | UMLS ID:C1257915 | gastrointestinal polyp | MONDO:0024292 | MeSH ID:D044483 +BMGC_DS08046,BMG_DS029870,Glucose Metabolism Disorders | glucose metabolism disease | DOID:4194 | UMLS ID:C1257958 | MONDO:0002908 | MeSH ID:D044882 +BMGC_DS08047,BMG_DS029872,UMLS ID:C1257963 | Hyperinsulinism | Endogenous Hyperinsulinism | MeSH ID:D006946 +BMGC_DS08048,BMG_DS029873,Exogenous Hyperinsulinism | UMLS ID:C1257964 | MeSH ID:D006946 | Hyperinsulinism +BMGC_DS08049,BMG_DS029874,Hyperinsulinism | UMLS ID:C1257965 | MeSH ID:D006946 | Compensatory Hyperinsulinemia +BMGC_DS08050,BMG_DS029878,MeSH ID:D001471 | UMLS ID:C1258085 | Barrett Esophagus | Barrett Epithelium +BMGC_DS08051,BMG_DS029880,"DOID:1580 | MeSH ID:D045743 | Diffuse Scleroderma | UMLS ID:C1258104 | MONDO:0005019 | Scleroderma, Diffuse | diffuse scleroderma" +BMGC_DS08052,BMG_DS029881,IO - Intestinal obstruction | DOID:8440 | Intestinal obstruction (disorder) | ileus | Obstruction of intestine | Intestinal obstruction | MONDO:0004567 | OMIM ID:MTHU007815 | UMLS ID:C1258215 | Bowel obstruction | Ileus | SNOMEDCT ID:81060008 | MeSH ID:D045823 | Ileus (disorder) | SNOMEDCT ID:278524008 +BMGC_DS08053,BMG_DS029889,Moraxellaceae Infections | MeSH ID:D045828 | UMLS ID:C1258225 | MONDO:0006878 | Moraxellaceae infectious disease +BMGC_DS08054,BMG_DS029890,Moraxellaceae Infections | Psychobacter Infections | MeSH ID:D045828 | MONDO:0006878 | UMLS ID:C1258226 | Moraxellaceae infectious disease +BMGC_DS08055,BMG_DS029891,DOID:6262 | MONDO:0005764 | follicular dendritic cell sarcoma | UMLS ID:C1260325 +BMGC_DS08056,BMG_DS029892,UMLS ID:C1260326 | DOID:7848 | interdigitating dendritic cell sarcoma | MONDO:0005813 +BMGC_DS08057,BMG_DS029893,Langerhans cell sarcoma | DOID:7146 | MONDO:0019480 | UMLS ID:C1260327 +BMGC_DS08058,BMG_DS029898,UMLS ID:C1260402 | splenic sequestration | MONDO:0001366 | DOID:11786 +BMGC_DS08059,BMG_DS029899,DOID:437 | UMLS ID:C1260409 | myasthenia gravis +BMGC_DS08060,BMG_DS029905,AVD - Aortic valve disease | SNOMEDCT ID:8722008 | MONDO:0003803 | UMLS ID:C1260873 | Aortic valve disorder (disorder) | aortic valve disorder | Aortic valve disorder | Aortic valve disease | DOID:62 | aortic valve disease +BMGC_DS08061,BMG_DS029920,"Anemia, Diamond-Blackfan | MONDO:0015253 | Diamond-Blackfan anemia | DOID:1339 | MeSH ID:D029503 | UMLS ID:C1260899" +BMGC_DS08062,BMG_DS029923,Dysfibrinogenemia (disorder) | UMLS ID:C1260903 | Dysfibrinogenemia | Dysfibrinogenaemia | SNOMEDCT ID:111589005 +BMGC_DS08063,BMG_DS029925,Haemorrhagic septicaemia due to Pasteurella multocida | SNOMEDCT ID:9772004 | SNOMEDCT ID:197718007 | MONDO:0040998 | Infection caused by Pasteurella multocida | UMLS ID:C1260911 | Infection caused by Pasteurella multocida (disorder) | Hemorrhagic septicemia due to Pasteurella multocida | Infection by Pasteurella multocida | Hemorrhagic septicemia due to Pasteurella multocida (disorder) | Pasteurella multocida infectious disease +BMGC_DS08064,BMG_DS029928,Late latent syphilis (disorder) | UMLS ID:C1260915 | SNOMEDCT ID:186903006 | MONDO:0040923 | late latent syphilis | Late latent syphilis +BMGC_DS08065,BMG_DS029929,UMLS ID:C1260917 | SNOMEDCT ID:195888009 | Proteus pneumonia (disorder) | Proteus pneumonia +BMGC_DS08066,BMG_DS029934,UMLS ID:C1260964 | malignant acrospiroma | DOID:5570 | ductal eccrine adenocarcinoma | MONDO:0024245 +BMGC_DS08067,BMG_DS029935,UMLS ID:C1260965 | lipoblastoma | MONDO:0016611 +BMGC_DS08068,BMG_DS029941,UMLS ID:C1261128 | MONDO:0008311 | progeria-short stature-pigmented nevi syndrome | MeSH ID:C536422 | Progeria short stature pigmented nevi | OMIM ID:176690 +BMGC_DS08069,BMG_DS029945,SNOMEDCT ID:373666002 | UMLS ID:C1261175 | pontocerebellar hypoplasia | Pontoneocerebellar hypoplasia (disorder) | Pontoneocerebellar hypoplasia | MONDO:0020135 +BMGC_DS08070,BMG_DS029949,Pelvic inflammatory disease caused by Metamycoplasma hominis (disorder) | SNOMEDCT ID:270550006 | Pelvic inflammatory disease caused by Metamycoplasma hominis | UMLS ID:C1261256 | Pelvic inflammatory disease caused by Mycoplasma hominis +BMGC_DS08071,BMG_DS029952,UMLS ID:C1261278 | ICD10 ID:N30.3 | MONDO:0001732 | (Cystitis NOS) or (trigonitis) | DOID:13507 | Trigonitis (disorder) | (Trigonitis) or (follicular cystitis) (disorder) | Follicular cystitis | SNOMEDCT ID:155885003 | SNOMEDCT ID:266629000 | (Cystitis NOS) or (trigonitis) (disorder) | SNOMEDCT ID:266562000 | SNOMEDCT ID:197843007 | trigonitis | Trigonitis | SNOMEDCT ID:74445007 | (Trigonitis) or (follicular cystitis) | ICD11 ID:GC00.0 | Cystitis NOS +BMGC_DS08072,BMG_DS029954,Mycetoma | SNOMEDCT ID:82684004 | Actinomycotic mycetoma (disorder) | MeSH ID:D008271 | Actinomycotic madura foot | Actinomycotic maduromycosis | ICD10 ID:B47.1 | Actinomycotic schizomycetoma | SNOMEDCT ID:187089001 | Actinomycotic madura foot (disorder) | Actinomycetoma | Actinomycotic mycetoma | UMLS ID:C1261283 | Actinomycotic mycetema | ICD11 ID:1C43 +BMGC_DS08073,BMG_DS029956,"Degeneration of macular due to cyst, hole or pseudohole | Degeneration of macula due to cyst, hole or pseudohole (disorder) | SNOMEDCT ID:193388002 | Macular cyst or hole | Degeneration of macula due to cyst, hole or pseudohole | DOID:13214 | Degeneration of macular due to cyst &/or hole &/or pseudohole | Degeneration of macular due to cyst &/or hole &/or pseudohole (disorder) | UMLS ID:C1261331 | MONDO:0001663 | hole retinal cyst | Macular hole | SNOMEDCT ID:267612009" +BMGC_DS08074,BMG_DS029964,MONDO:0005089 | sarcoma | UMLS ID:C1261473 +BMGC_DS08075,BMG_DS029967,Bacterial sinusitis | Bacterial sinusitis (disorder) | SNOMEDCT ID:703470001 | UMLS ID:C1262006 +BMGC_DS08076,BMG_DS029970,Fungal infection of cornea | SNOMEDCT ID:314558005 | Keratomycosis | UMLS ID:C1262117 | fungal keratitis | Fungal keratitis (disorder) | MONDO:0033821 | Mycotic keratitis | Fungal keratitis +BMGC_DS08077,BMG_DS029977,MeSH ID:C535952 | SNOMEDCT ID:359804008 | Infection by Anisakis larva (disorder) | Eosinophilic gastroenteritis | MONDO:0016129 | DOID:4031 | Infection by Anisakis larva | SNOMEDCT ID:32183007 | UMLS ID:C1262481 | eosinophilic gastroenteritis | Eosinophilic gastroenteritis (disorder) +BMGC_DS08078,BMG_DS029982,"Chemical and Drug Induced Liver Injury | MeSH ID:D056486 | drug-induced hepatitis | Hepatitis, Drug-Induced | UMLS ID:C1262760 | MONDO:0002184" +BMGC_DS08079,BMG_DS030019,MONDO:0003138 | UMLS ID:C1263744 | DOID:4782 | subacute glomerulonephritis | SNOMEDCT ID:123609007 | Subacute glomerulonephritis | Subacute glomerulonephritis (disorder) +BMGC_DS08080,BMG_DS030030,UMLS ID:C1263758 | SNOMEDCT ID:125585007 | Female genital tract infection | Female genital tract infection (disorder) +BMGC_DS08081,BMG_DS030051,UMLS ID:C1263846 | MONDO:0007743 | attention deficit-hyperactivity disorder +BMGC_DS08082,BMG_DS030060,Peripheral axonal neuropathy | SNOMEDCT ID:128208007 | UMLS ID:C1263857 | Peripheral axonal neuropathy (disorder) | MONDO:0004183 | OMIM ID:MTHU001038 | axonal neuropathy +BMGC_DS08083,BMG_DS030061,"UMLS ID:C1263858 | Muscular dystrophy congenital, merosin negative | OMIM ID:607855 | congenital merosin-deficient muscular dystrophy 1A | MeSH ID:C537384 | MONDO:0011925 | DOID:0110636" +BMGC_DS08084,BMG_DS030079,UMLS ID:C1263885 | cerebrum cancer | MONDO:0021374 | neoplasm of cerebral hemisphere | DOID:368 +BMGC_DS08085,BMG_DS030080,frontal lobe neoplasm | UMLS ID:C1263886 | MONDO:0001421 | DOID:12016 +BMGC_DS08086,BMG_DS030081,neoplasm of temporal lobe | temporal lobe neoplasm | MONDO:0021372 | UMLS ID:C1263887 | DOID:2135 +BMGC_DS08087,BMG_DS030082,UMLS ID:C1263888 | DOID:14384 | neoplasm of parietal lobe | MONDO:0021373 | parietal lobe neoplasm +BMGC_DS08088,BMG_DS030083,UMLS ID:C1263889 | occipital lobe neoplasm | DOID:910 | MONDO:0004709 +BMGC_DS08089,BMG_DS030084,UMLS ID:C1263892 | DOID:4847 | MONDO:0003164 | cauda equina neoplasm +BMGC_DS08090,BMG_DS030085,cranial nerve III tumor | UMLS ID:C1263895 | oculomotor nerve neoplasm | DOID:2817 | MONDO:0002435 +BMGC_DS08091,BMG_DS030086,trochlear nerve neoplasm | MONDO:0002642 | DOID:3421 | UMLS ID:C1263896 +BMGC_DS08092,BMG_DS030087,MONDO:0001420 | trigeminal nerve neoplasm | UMLS ID:C1263897 | DOID:1201 +BMGC_DS08093,BMG_DS030088,abducens nerve neoplasm | MONDO:0001884 | UMLS ID:C1263898 | DOID:14125 +BMGC_DS08094,BMG_DS030089,DOID:1760 | MONDO:0002101 | UMLS ID:C1263899 | facial nerve neoplasm +BMGC_DS08095,BMG_DS030090,glossopharyngeal nerve neoplasm | UMLS ID:C1263900 | MONDO:0002638 | DOID:3417 +BMGC_DS08096,BMG_DS030091,vagus nerve neoplasm | MONDO:0001608 | DOID:12984 | UMLS ID:C1263901 +BMGC_DS08097,BMG_DS030092,UMLS ID:C1263902 | spinal accessory nerve neoplasm | MONDO:0002626 | DOID:337 +BMGC_DS08098,BMG_DS030093,MONDO:0002550 | UMLS ID:C1263903 | hypoglossal nerve neoplasm | DOID:3198 +BMGC_DS08099,BMG_DS030125,Sickle cell-Hemoglobin O Arab disease (disorder) | UMLS ID:C1264000 | Sickle cell-Hemoglobin O Arab disease | Sickle cell-Haemoglobin O Arab disease | SNOMEDCT ID:127048005 +BMGC_DS08100,BMG_DS030155,"MeSH ID:D056725 | MONDO:0008668 | UMLS ID:C1264039 | von Willebrand disease 1 | von Willebrand Disease, Type 1 | von Willebrand's disease 1 | OMIM ID:193400 | DOID:0060573" +BMGC_DS08101,BMG_DS030156,"DOID:0060574 | OMIM ID:613554 | von Willebrand Disease, Type 2 | MeSH ID:D056728 | von Willebrand disease 2 | von Willebrand's disease 2 | MONDO:0013304 | UMLS ID:C1264040" +BMGC_DS08102,BMG_DS030157,"UMLS ID:C1264041 | DOID:0111054 | von Willebrand Disease, Type 3 | von Willebrand's disease 3 | von Willebrand disease 3 | MONDO:0010191 | OMIM ID:277480 | MeSH ID:D056729" +BMGC_DS08103,BMG_DS030204,DOID:6658 | pulmonary large cell neuroendocrine carcinoma | MONDO:0005057 | large cell neuroendocrine carcinoma | UMLS ID:C1265996 +BMGC_DS08104,BMG_DS030205,DOID:7480 | UMLS ID:C1265997 | large cell carcinoma with rhabdoid phenotype | MONDO:0004237 +BMGC_DS08105,BMG_DS030206,DOID:5522 | UMLS ID:C1266005 | basaloid squamous cell carcinoma | MONDO:0003486 +BMGC_DS08106,BMG_DS030207,non-invasive bladder papillary urothelial neoplasm | UMLS ID:C1266010 | DOID:6239 +BMGC_DS08107,BMG_DS030208,sclerosing hepatic carcinoma | UMLS ID:C1266018 | DOID:5026 | MONDO:0003246 +BMGC_DS08108,BMG_DS030209,MONDO:0003243 | UMLS ID:C1266020 | DOID:5016 | hepatocellular clear cell carcinoma +BMGC_DS08109,BMG_DS030210,UMLS ID:C1266023 | DOID:7539 | pregnancy adenoma | MONDO:0004271 +BMGC_DS08110,BMG_DS030211,anal gland adenocarcinoma | DOID:7531 | MONDO:0004266 | UMLS ID:C1266027 +BMGC_DS08111,BMG_DS030215,biliary papillomatosis | UMLS ID:C1266038 | DOID:5468 +BMGC_DS08112,BMG_DS030216,chromophobe renal cell carcinoma | DOID:4471 | MONDO:0017885 | UMLS ID:C1266042 +BMGC_DS08113,BMG_DS030217,sarcomatoid renal cell carcinoma | DOID:4473 | UMLS ID:C1266043 | MONDO:0003012 +BMGC_DS08114,BMG_DS030218,MONDO:0005220 | collecting duct carcinoma | UMLS ID:C1266044 | DOID:4464 +BMGC_DS08115,BMG_DS030219,DOID:6404 | UMLS ID:C1266045 | metanephric adenoma | MONDO:0006301 +BMGC_DS08116,BMG_DS030220,MONDO:0004524 | UMLS ID:C1266046 | thyroid gland atypical follicular adenoma | atypical follicular adenoma | DOID:8292 +BMGC_DS08117,BMG_DS030222,"MONDO:0004174 | DOID:7289 | secretory uterine corpus endometrioid adenocarcinoma | endometrial endometrioid adenocarcinoma, secretory variant | UMLS ID:C1266057" +BMGC_DS08118,BMG_DS030224,malignant spiradenoma | UMLS ID:C1266063 | DOID:7960 | MONDO:0004412 +BMGC_DS08119,BMG_DS030225,MONDO:0006189 | DOID:7566 | UMLS ID:C1266065 | eccrine porocarcinoma +BMGC_DS08120,BMG_DS030226,DOID:4920 | eccrine adenocarcinoma | UMLS ID:C1266066 +BMGC_DS08121,BMG_DS030227,DOID:7575 | UMLS ID:C1266071 | pancreatic intraductal papillary-mucinous neoplasm +BMGC_DS08122,BMG_DS030228,pancreatic non-invasive mucinous cystadenocarcinoma | UMLS ID:C1266078 | DOID:7237 | MONDO:0004159 +BMGC_DS08123,BMG_DS030229,DOID:8340 | UMLS ID:C1266079 | endocervical type cervical mucinous adenocarcinoma +BMGC_DS08124,BMG_DS030230,acinar cell cystadenocarcinoma | UMLS ID:C1266087 | pancreatic acinar cell cystadenocarcinoma | MONDO:0004343 | DOID:7729 +BMGC_DS08125,BMG_DS030232,UMLS ID:C1266091 | MONDO:0002588 | spindle cell thymoma | DOID:3279 | thymoma type A +BMGC_DS08126,BMG_DS030233,mixed type thymoma | DOID:3280 | MONDO:0016975 | UMLS ID:C1266092 | thymoma type AB +BMGC_DS08127,BMG_DS030234,malignant type AB thymoma | MONDO:0003976 | DOID:6723 | UMLS ID:C1266093 +BMGC_DS08128,BMG_DS030235,UMLS ID:C1266094 | DOID:6917 | predominantly cortical thymoma | MONDO:0006459 | thymoma type B1 +BMGC_DS08129,BMG_DS030236,MONDO:0003915 | thymoma type B2 | UMLS ID:C1266095 | cortical thymoma | DOID:6530 +BMGC_DS08130,BMG_DS030238,thymic epithelial neoplasm | UMLS ID:C1266101 | MONDO:0018079 +BMGC_DS08131,BMG_DS030239,MONDO:0003340 | DOID:5233 | UMLS ID:C1266111 | malignant glomus tumor | glomangiosarcoma +BMGC_DS08132,BMG_DS030240,MONDO:0003867 | diffuse meningeal melanocytosis | DOID:6379 | UMLS ID:C1266112 +BMGC_DS08133,BMG_DS030242,MONDO:0004512 | UMLS ID:C1266114 | DOID:8243 | meningeal melanomatosis +BMGC_DS08134,BMG_DS030243,solitary fibrous tumor | MONDO:0016238 | UMLS ID:C1266119 +BMGC_DS08135,BMG_DS030244,myofibroma | DOID:4386 | MONDO:0006312 | UMLS ID:C1266121 +BMGC_DS08136,BMG_DS030246,"OMIM ID:612160 | histiocytoma, Angiomatoid fibrous | UMLS ID:C1266127 | MONDO:0012809" +BMGC_DS08137,BMG_DS030247,ossifying fibromyxoid tumor | DOID:2685 | UMLS ID:C1266128 | MONDO:0006330 +BMGC_DS08138,BMG_DS030249,UMLS ID:C1266130 | fibroblastic liposarcoma | MONDO:0003590 | DOID:5698 +BMGC_DS08139,BMG_DS030250,DOID:10208 | MONDO:0000977 | chondroid lipoma | UMLS ID:C1266131 +BMGC_DS08140,BMG_DS030251,UMLS ID:C1266134 | spindle cell rhabdomyosarcoma | MONDO:0002581 | DOID:3260 +BMGC_DS08141,BMG_DS030254,nephrogenic adenofibroma | MONDO:0002396 | DOID:2698 | UMLS ID:C1266141 +BMGC_DS08142,BMG_DS030255,MONDO:0011014 | pleuropulmonary blastoma | OMIM ID:601200 | DOID:4769 | UMLS ID:C1266144 +BMGC_DS08143,BMG_DS030257,DOID:3593 | UMLS ID:C1266159 | MONDO:0016787 | epithelioid trophoblastic tumor +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 | DOID:5867 | clear cell chondrosarcoma | MONDO:0003684 +BMGC_DS08147,BMG_DS030261,malignant giant cell tumor of the tendon sheath | MONDO:0002401 | DOID:2704 | UMLS ID:C1266168 | malignant tenosynovial giant cell tumor +BMGC_DS08148,BMG_DS030262,UMLS ID:C1266173 | chondroid chordoma | MONDO:0006145 | DOID:4152 +BMGC_DS08149,BMG_DS030263,DOID:2647 | parachordoma | UMLS ID:C1266175 | MONDO:0006351 +BMGC_DS08150,BMG_DS030265,DOID:2679 | MONDO:0005505 | dysembryoplastic neuroepithelial tumor | UMLS ID:C1266177 +BMGC_DS08151,BMG_DS030266,UMLS ID:C1266178 | MONDO:0003170 | DOID:4856 | gliofibroma +BMGC_DS08152,BMG_DS030267,MONDO:0002791 | UMLS ID:C1266180 | large cell medulloblastoma | DOID:3857 +BMGC_DS08153,BMG_DS030268,DOID:2129 | UMLS ID:C1266184 | MONDO:0020560 | atypical teratoid rhabdoid tumor +BMGC_DS08154,BMG_DS030269,malignant perineurioma | UMLS ID:C1266188 | MONDO:0016751 +BMGC_DS08155,BMG_DS030270,"Hodgkin's lymphoma, lymphocytic-histiocytic predominance | UMLS ID:C1266194 | DOID:8543 | MONDO:0004604" +BMGC_DS08156,BMG_DS030289,"UMLS ID:C1268935 | OMIM ID:274150 | MeSH ID:D011697 | congenital thrombotic thrombocytopenic purpura | Purpura, Thrombotic Thrombocytopenic | Congenital Thrombotic Thrombocytopenic Purpura | MONDO:0010122" +BMGC_DS08157,BMG_DS030293,UMLS ID:C1269683 | OMIM ID:608516 | major depressive disorder | MONDO:0002009 +BMGC_DS08158,BMG_DS030317,ectopia pupillae | OMIM ID:129750 | UMLS ID:C1271219 | MONDO:0007515 +BMGC_DS08159,BMG_DS030318,MONDO:0010896 | UMLS ID:C1271398 | Pigment dispersion syndrome | Pigment dispersion syndrome (disorder) | pigment dispersion syndrome | OMIM ID:600510 | SNOMEDCT ID:392133001 +BMGC_DS08160,BMG_DS030347,tibial adamantinoma | DOID:6322 | MONDO:0006469 | UMLS ID:C1273017 +BMGC_DS08161,BMG_DS030348,SNOMEDCT ID:395650008 | UMLS ID:C1273070 | SNOMEDCT ID:395704004 | OMIM ID:MTHU076255 | Left ventricular diastolic dysfunction | Left ventricular diastolic dysfunction (disorder) +BMGC_DS08162,BMG_DS030354,SNOMEDCT ID:372936000 | Infection caused by Talaromyces marneffei (disorder) | Infection caused by Talaromyces marneffei | Infection due to Penicillium marneffei (disorder) | UMLS ID:C1274008 | MONDO:0000304 | penicilliosis | Infection caused by Penicillium marneffei +BMGC_DS08163,BMG_DS030376,IgA pemphigus | DOID:0080851 | UMLS ID:C1274167 | Immunoglobulin A pemphigus | SNOMEDCT ID:402717008 | Immunoglobulin A pemphigus (disorder) | MONDO:0034127 +BMGC_DS08164,BMG_DS030392,UMLS ID:C1274184 | Factitious skin disease (disorder) | Factitious skin disease | SNOMEDCT ID:402736003 | MONDO:0006586 | DOID:9165 | neurotic excoriation +BMGC_DS08165,BMG_DS030404,UMLS ID:C1274215 | MONDO:0017265 | autosomal recessive congenital ichthyosis +BMGC_DS08166,BMG_DS030405,UMLS ID:C1274216 | DOID:0060361 | punctate palmoplantar keratoderma +BMGC_DS08167,BMG_DS030413,Chylomicronemia syndrome (disorder) | Chylomicronemia syndrome | UMLS ID:C1274228 | SNOMEDCT ID:402786009 +BMGC_DS08168,BMG_DS030417,DOID:11200 | T-cell immunodeficiency | SNOMEDCT ID:402792003 | T-lymphocyte immunodeficiency (disorder) | T-lymphocyte immunodeficiency | UMLS ID:C1274233 | MONDO:0003780 | T cell deficiency +BMGC_DS08169,BMG_DS030474,Recurrent herpes labialis | UMLS ID:C1274321 | SNOMEDCT ID:402892009 | Recurrent herpes simplex labialis | Recurrent herpes simplex labialis (disorder) +BMGC_DS08170,BMG_DS030476,Recurrent genital herpes simplex (disorder) | Recurrent genital herpes simplex | Recurrent herpes genitalis | SNOMEDCT ID:402894005 | UMLS ID:C1274323 +BMGC_DS08171,BMG_DS030506,SNOMEDCT ID:402937004 | Streptococcal infection of skin (disorder) | UMLS ID:C1274355 | Streptococcal infection of skin +BMGC_DS08172,BMG_DS030548,Nocardia Infections | Primary Cutaneous Nocardiosis | UMLS ID:C1274400 | MeSH ID:D009617 +BMGC_DS08173,BMG_DS030613,Onychomycosis of toenails (disorder) | Onychomycosis of toenails | UMLS ID:C1274470 | SNOMEDCT ID:403059006 +BMGC_DS08174,BMG_DS030691,Demodectic blepharitis | UMLS ID:C1274557 | SNOMEDCT ID:403152000 | Demodectic blepharitis (disorder) +BMGC_DS08175,BMG_DS030774,OMIM ID:618352 | UMLS ID:C1274708 | ICD10 ID:L66.81 | MONDO:0022113 | Central centrifugal cicatricial alopecia | Hot comb alopecia | SNOMEDCT ID:109441000119102 | central centrifugal cicatricial alopecia | Central centrifugal cicatricial alopecia (disorder) +BMGC_DS08176,BMG_DS030799,OMIM ID:144110 | UMLS ID:C1274743 | MONDO:0007754 | MeSH ID:C563185 | hyperhidrosis palmaris ET plantaris | Hyperhidrosis Palmaris Et Plantaris +BMGC_DS08177,BMG_DS030839,Ligneous conjunctivitis (disorder) | ligneous conjunctivitis | Ligneous conjunctivitis | SNOMEDCT ID:403435005 | UMLS ID:C1274789 | 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,pediatric systemic lupus erythematosus | Systemic lupus erythematosus of childhood | Systemic lupus erythematosus of childhood (disorder) | SNOMEDCT ID:403488004 | MONDO:0019725 | UMLS ID:C1274834 +BMGC_DS08180,BMG_DS030923,Drug-Induced Stevens Johnson Syndrome | Stevens-Johnson Syndrome | MeSH ID:D013262 | UMLS ID:C1274933 +BMGC_DS08181,BMG_DS030972,SNOMEDCT ID:403666006 | UMLS ID:C1274988 | Drug-induced mucositis | Drug-induced mucositis (disorder) +BMGC_DS08182,BMG_DS031016,UMLS ID:C1275078 | SNOMEDCT ID:403767009 | DOID:0060234 | Acrocephalopolysyndactyly type II | MONDO:0019012 | Acrocephalopolysyndactyly type 2 | Carpenter syndrome | Acrocephalopolysyndactyly type II (disorder) +BMGC_DS08183,BMG_DS031017,MeSH ID:C537227 | UMLS ID:C1275079 | OMIM ID:101120 | DOID:0060359 | Sakati-Nyhan syndrome | MONDO:0007040 | Sakati syndrome +BMGC_DS08184,BMG_DS031018,MONDO:0015280 | SNOMEDCT ID:403770008 | UMLS ID:C1275081 | Cardio-facio-cutaneous syndrome | Cardio-facio-cutaneous syndrome (disorder) | cardiofaciocutaneous syndrome +BMGC_DS08185,BMG_DS031020,OMIM ID:106070 | MONDO:0007116 | hereditary neurocutaneous angioma | UMLS ID:C1275084 +BMGC_DS08186,BMG_DS031023,Dykes Markes Harper syndrome | MONDO:0009445 | OMIM ID:242520 | ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome | UMLS ID:C1275088 | MeSH ID:C535727 +BMGC_DS08187,BMG_DS031024,"Ichthyosiform erythroderma, corneal involvement, deafness | MONDO:0009440 | OMIM ID:242150 | MeSH ID:C537363 | UMLS ID:C1275089 | ichthyosiform erythroderma, corneal involvement, and hearing loss" +BMGC_DS08188,BMG_DS031038,Autosomal dominant familial woolly hair | Autosomal dominant familial wooly hair (disorder) | UMLS ID:C1275103 | Autosomal dominant familial wooly hair | SNOMEDCT ID:403794008 +BMGC_DS08189,BMG_DS031046,recessive dystrophic epidermolysis bullosa inversa | Dystrophic epidermolysis bullosa inverse type | Dystrophic epidermolysis bullosa inverse type (disorder) | UMLS ID:C1275113 | MONDO:0019310 | SNOMEDCT ID:403809003 +BMGC_DS08190,BMG_DS031047,MeSH ID:C563192 | OMIM ID:604129 | Epidermolysis Bullosa Pruriginosa | dystrophic epidermolysis bullosa pruriginosa | UMLS ID:C1275114 | MONDO:0011398 +BMGC_DS08191,BMG_DS031049,UMLS ID:C1275116 | OMIM ID:264800 | MONDO:0009925 | Autosomal recessive pseudoxanthoma elasticum | Autosomal recessive pseudoxanthoma elasticum (disorder) | SNOMEDCT ID:403812000 | autosomal recessive inherited pseudoxanthoma elasticum +BMGC_DS08192,BMG_DS031051,familial multiple trichoepithelioma | MONDO:0011114 | UMLS ID:C1275122 +BMGC_DS08193,BMG_DS031054,autosomal dominant familial periodic fever | Tumour necrosis factor (TNF) receptor-associated periodic fever syndrome | Tumor necrosis factor receptor-associated periodic fever syndrome | OMIM ID:142680 | Familial autosomal dominant periodic fever | MONDO:0007727 | Tumour necrosis factor receptor-associated periodic fever syndrome | TNF receptor-associated periodic fever syndrome (TRAPS) | TNF receptor-associated periodic fever syndrome | SNOMEDCT ID:403833009 | Tumor necrosis factor receptor-associated periodic fever syndrome (disorder) | UMLS ID:C1275126 | Tumor necrosis factor (TNF) receptor-associated periodic fever syndrome | TRAPS - TNF receptor-associated periodic fever syndrome +BMGC_DS08194,BMG_DS031071,UMLS ID:C1275217 | vulval Paget disease | vulval Paget's disease | DOID:2097 | MONDO:0002207 +BMGC_DS08195,BMG_DS031072,skin glomangioma | cutaneous glomangioma | UMLS ID:C1275226 | MONDO:0002298 | DOID:2435 +BMGC_DS08196,BMG_DS031078,malignant skin fibrous histiocytoma | cutaneous undifferentiated pleomorphic sarcoma | MONDO:0002141 | UMLS ID:C1275254 | DOID:1906 +BMGC_DS08197,BMG_DS031080,MONDO:0003302 | DOID:5149 | UMLS ID:C1275264 | epithelioid neurofibroma +BMGC_DS08198,BMG_DS031081,familial multiple lipomatosis | OMIM ID:151900 | MONDO:0007909 | MeSH ID:D000071070 | DOID:0070518 | UMLS ID:C1275273 | Familial Multiple Lipomatosis +BMGC_DS08199,BMG_DS031082,DOID:5705 | spindle cell liposarcoma | MONDO:0003596 | UMLS ID:C1275275 +BMGC_DS08200,BMG_DS031084,UMLS ID:C1275278 | extraskeletal myxoid chondrosarcoma | MONDO:0012825 | OMIM ID:612237 | DOID:4549 +BMGC_DS08201,BMG_DS031085,DOID:4548 | extraskeletal mesenchymal chondrosarcoma | UMLS ID:C1275279 +BMGC_DS08202,BMG_DS031134,MONDO:0000410 | funisitis | UMLS ID:C1275592 | Funisitis (disorder) | Inflammation of umbilical cord | Funisitis | SNOMEDCT ID:396343006 +BMGC_DS08203,BMG_DS031135,UMLS ID:C1275668 | melanotic medulloblastoma | MONDO:0002796 | DOID:3868 +BMGC_DS08204,BMG_DS031136,Meibomian gland dysfunction (disorder) | Meibomian gland dysfunction | Posterior blepharitis | MGD-Meibomian gland dysfunction | OMIM ID:MTHU045781 | UMLS ID:C1275684 | SNOMEDCT ID:397549002 +BMGC_DS08205,BMG_DS031137,granular corneal dystrophy 2 | MeSH ID:C535474 | Granular corneal dystrophy type II (disorder) | Granular corneal dystrophy type II | UMLS ID:C1275685 | SNOMEDCT ID:397568004 | MONDO:0011855 | OMIM ID:607541 | DOID:0060444 | Avellino corneal dystrophy | granular corneal dystrophy type II | Granular-lattice corneal dystrophy +BMGC_DS08206,BMG_DS031139,Herpes zoster keratitis (disorder) | UMLS ID:C1275687 | HZV (herpes zoster virus) keratitis | SNOMEDCT ID:397573005 | Herpes zoster keratitis +BMGC_DS08207,BMG_DS031143,"CCHS - Congenital central hypoventilation | SNOMEDCT ID:399040002 | Ondine curse | SNOMEDCT ID:361207008 | Congenital pulmonary hypoventilation | Congenital central hypoventilation (disorder) | Ondine's curse | Primary alveolar hypoventilation | central hypoventilation syndrome, congenital | CCHS - Congenital central hypoventilation (finding) | Congenital central hypoventilation | MONDO:0800031 | UMLS ID:C1275808" +BMGC_DS08208,BMG_DS031160,"Fetal akinesia-hypokinesia sequence | fetal akinesia deformation sequence 1 | FADS - foetal akinesia deformation sequence | Foetal akinesia-hypokinesia sequence | FADS - fetal akinesia deformation sequence | fetal akinesia deformation sequence syndrome | MONDO:0100101 | DOID:0111375 | Arthrogryposis multiplex congenita, pulmonary hypoplasia syndrome | SNOMEDCT ID:401138005 | Pena-Shokeir syndrome type I | Pena-Shokeir syndrome type I (disorder) | OMIM ID:208150 | UMLS ID:C1276035" +BMGC_DS08209,BMG_DS031175,SNOMEDCT ID:402201001 | Impetiginized atopic dermatitis | Impetiginized atopic dermatitis (disorder) | Infected atopic dermatitis | UMLS ID:C1276076 +BMGC_DS08210,BMG_DS031228,Infection caused by Erysipelothrix insidiosa | UMLS ID:C1276801 | Infection due to Erysipelothrix rhusiopathiae (disorder) | MONDO:0006752 | Infection caused by Erysipelothrix rhusiopathiae (disorder) | SNOMEDCT ID:266005008 | Erysipelothrix rhusiopathiae infectious disease | Infection caused by Erysipelothrix rhusiopathiae +BMGC_DS08211,BMG_DS031257,Postnatal infection (disorder) | UMLS ID:C1278797 | SNOMEDCT ID:178280004 | Postnatal infection +BMGC_DS08212,BMG_DS031259,SNOMEDCT ID:236683007 | Inflammation of urethra caused by Chlamydia | Inflammation of urethra caused by Chlamydia (disorder) | Chlamydial urethritis | UMLS ID:C1278807 +BMGC_DS08213,BMG_DS031262,MeSH ID:C536694 | Familial myoplegia | UMLS ID:C1279186 | SNOMEDCT ID:267607008 | SNOMEDCT ID:182747006 | Familial periodic paralysis | Cavarre disease | Myoplegic dystrophy | Periodic myotonia | Familial periodic paralysis (disorder) | Familial recurrent paralysis | SNOMEDCT ID:54696002 | Westphal disease (disorder) | Westphal disease | MONDO:0042980 +BMGC_DS08214,BMG_DS031290,periodic paralysis (finding) | SNOMEDCT ID:198030008 | periodic paralysis | Periodic paralysis | MONDO:0016122 | Periodic paralysis (finding) | UMLS ID:C1279412 +BMGC_DS08215,BMG_DS031293,T-B+ severe combined immunodeficiency due to gamma chain deficiency | X-linked severe combined immunodeficiency | OMIM ID:300400 | MeSH ID:D053632 | X-Linked Combined Immunodeficiency Diseases | DOID:0060013 | MONDO:0010315 | UMLS ID:C1279481 +BMGC_DS08216,BMG_DS031299,Tinea profunda | Majocchi's granuloma | UMLS ID:C1279621 | tinea profunda | SNOMEDCT ID:58950002 | SNOMEDCT ID:214600002 | MONDO:0001698 | Tinea profunda (disorder) | DOID:13368 +BMGC_DS08217,BMG_DS031304,DOID:2800 | UMLS ID:C1279945 | acute interstitial pneumonia +BMGC_DS08218,BMG_DS031310,Lipoatrophy (disorder) | UMLS ID:C1280433 | Lipoatrophy | OMIM ID:MTHU049594 | SNOMEDCT ID:248315005 +BMGC_DS08219,BMG_DS031312,Podoconiosis (disorder) | Elephantiasis | Podoconiosis | DOID:0050138 | podoconiosis | MeSH ID:D004604 | UMLS ID:C1280469 | MONDO:0005425 | SNOMEDCT ID:890181005 +BMGC_DS08220,BMG_DS031319,Jumping Frenchmen of Maine | OMIM ID:244100 | UMLS ID:C1280764 | MONDO:0009481 +BMGC_DS08221,BMG_DS031322,"Von Willebrand disease, platelet type | MONDO:0008332 | MeSH ID:C536458 | UMLS ID:C1280798 | platelet-type von Willebrand disease | OMIM ID:177820" +BMGC_DS08222,BMG_DS031411,"Ocular Cicatricial Pemphigoid | MeSH ID:D010390 | UMLS ID:C1282359 | OMIM ID:164185 | MONDO:0008109 | ocular cicatricial pemphigoid | Pemphigoid, Benign Mucous Membrane" +BMGC_DS08223,BMG_DS031422,metastasis from malignant tumor of colon | UMLS ID:C1282500 | MONDO:0041448 +BMGC_DS08224,BMG_DS031441,enthesitis | UMLS ID:C1282952 | Enthesitis (disorder) | Enthesitis | SNOMEDCT ID:359643005 | MONDO:0024419 +BMGC_DS08225,BMG_DS031448,"von Willebrand Disease, Type 2 | MeSH ID:D056728 | von Willebrand disease type 2A | MONDO:0015628 | von Willebrand Disease, Type 2A | UMLS ID:C1282968" +BMGC_DS08226,BMG_DS031449,"von Willebrand Disease, Type 2B | UMLS ID:C1282971 | von Willebrand Disease, Type 2 | MeSH ID:D056728 | von Willebrand disease type 2B | MONDO:0015629" +BMGC_DS08227,BMG_DS031451,von Willebrand disease type 2M (disorder) | UMLS ID:C1282974 | MONDO:0015630 | von Willebrand disease type 2M | SNOMEDCT ID:359729006 | SNOMEDCT ID:128111001 +BMGC_DS08228,BMG_DS031452,"UMLS ID:C1282975 | von Willebrand Disease, Type 2 | von Willebrand Disease, Type 2N | MeSH ID:D056728 | MONDO:0015631 | von Willebrand disease type 2N" +BMGC_DS08229,BMG_DS031464,lymphocytic gastritis | SNOMEDCT ID:360375007 | DOID:4035 | SNOMEDCT ID:235658000 | UMLS ID:C1283271 | Lymphocytic gastritis | MONDO:0002844 | Lymphocytic gastritis (disorder) +BMGC_DS08230,BMG_DS031474,Pseudocholinesterase deficiency (disorder) | MeSH ID:C537417 | SNOMEDCT ID:191397007 | MONDO:0015270 | Pseudocholinesterase deficiency | UMLS ID:C1283400 | Cholinesterase deficiency | butyrylcholinesterase deficiency | Serum cholinesterase deficiency | Serum cholinesterase defect | Butyrylcholinesterase deficiency | OMIM ID:617936 | Suxamethonium paralysis | Plasma cholinesterase deficiency +BMGC_DS08231,BMG_DS031494,"MeSH ID:C538139 | DOID:0111633 | congenital sucrase-isomaltase deficiency | Sucrase-isomaltase deficiency, congenital | UMLS ID:C1283620 | OMIM ID:222900 | MONDO:0009114" +BMGC_DS08232,BMG_DS031527,UMLS ID:C1285162 | SNOMEDCT ID:362975008 | Degenerative disorder (disorder) | neurodegenerative disease | Degenerative disorder | DOID:1289 +BMGC_DS08233,BMG_DS031540,UMLS ID:C1285261 | Fetal Nutrition Disorders | MeSH ID:D048070 +BMGC_DS08234,BMG_DS031543,OMIM ID:MTHU003014 | Foetal ascites | Fetal ascites (disorder) | Fetal ascites | SNOMEDCT ID:363125002 | UMLS ID:C1285291 +BMGC_DS08235,BMG_DS031599,MONDO:0001458 | ulnar nerve lesion | SNOMEDCT ID:367475009 | ICD11 ID:8C10.1 | Ulnar neuropathy | Lesion of ulnar nerve | SNOMEDCT ID:55802003 | ICD10 ID:G56.2 | Ulnar nerve lesion (disorder) | SNOMEDCT ID:359834003 | Ulnar neuropathy (disorder) | Lesion of ulnar nerve (disorder) | Ulnar nerve lesion | UMLS ID:C1288279 | DOID:12168 +BMGC_DS08236,BMG_DS031601,AA amyloidosis | Familial Mediterranean fever | Familial Mediterranean fever (disorder) | AA amyloidosis (disorder) | SNOMEDCT ID:84137001 | Familial recurrent polyserositis | Periodic polyserositis | Paroxysmal polyserositis | SNOMEDCT ID:367528006 | Amyloidosis due to familial Mediterranean fever (disorder) | SNOMEDCT ID:12579009 | Amyloidosis due to familial Mediterranean fever | Recurrent polyserositis | Periodic disease | Periodic peritonitis | Periodic familial peritonitis | UMLS ID:C1288287 | Amyloid of familial Mediterranean fever | Familial paroxysmal polyserositis | Benign paroxysmal peritonitis | FMF - Familial Mediterranean fever | MEF - Familial Mediterranean fever +BMGC_DS08237,BMG_DS031662,Arthropathy associated with bacterial disease (disorder) | SNOMEDCT ID:48245008 | Bacterial arthritis | Arthropathy associated with bacterial disease | UMLS ID:C1290139 | Arthritis due to bacterial infection | SNOMEDCT ID:111212009 | Bacterial arthritis (disorder) +BMGC_DS08238,BMG_DS031681,UMLS ID:C1290159 | SNOMEDCT ID:109298000 | subacute bursitis | Subacute bursitis | MONDO:0040698 | Subacute bursitis (disorder) +BMGC_DS08239,BMG_DS031732,DOID:5090 | sternal neoplasm | sternum cancer | UMLS ID:C1290244 | MONDO:0021578 +BMGC_DS08240,BMG_DS031751,DOID:2801 | Nonspecific interstitial pneumonia | nonspecific interstitial pneumonia | UMLS ID:C1290344 | Nonspecific interstitial pneumonitis | MONDO:0019622 | Nonspecific interstitial pneumonitis (disorder) | non-specific interstitial pneumonia | SNOMEDCT ID:129452008 +BMGC_DS08241,BMG_DS031753,UMLS ID:C1290353 | epiglottis neoplasm | MONDO:0004109 | DOID:7105 +BMGC_DS08242,BMG_DS031754,DOID:5767 | lung hilum neoplasm | MONDO:0003639 | hilar lung neoplasm | UMLS ID:C1290358 +BMGC_DS08243,BMG_DS031755,Acute cardiovascular disease | Acute disease of cardiovascular system (disorder) | UMLS ID:C1290379 | Acute disorder of cardiovascular system | SNOMEDCT ID:128487001 | Acute cardiovascular disorder | Acute disease of cardiovascular system +BMGC_DS08244,BMG_DS031760,Structural disorder of heart | UMLS ID:C1290384 | Structural disorder of heart (disorder) | SNOMEDCT ID:128599005 +BMGC_DS08245,BMG_DS031775,endocardium cancer | DOID:5877 | neoplasm of endocardium | UMLS ID:C1290401 | MONDO:0021378 +BMGC_DS08246,BMG_DS031776,UMLS ID:C1290402 | myocardium cancer | DOID:9299 | MONDO:0021380 | neoplasm of myocardium +BMGC_DS08247,BMG_DS031777,DOID:4699 | epicardium cancer | MONDO:0021379 | UMLS ID:C1290403 | neoplasm of epicardium +BMGC_DS08248,BMG_DS031778,UMLS ID:C1290407 | DOID:175 | vascular cancer +BMGC_DS08249,BMG_DS032021,UMLS ID:C1291230 | 3-hydroxyacyl-CoA dehydrogenase deficiency | MeSH ID:C535310 | OMIM ID:231530 | 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | MONDO:0017715 +BMGC_DS08250,BMG_DS032036,MONDO:0000193 | cortisone reductase deficiency | DOID:0090139 | Cortisone reductase deficiency | MeSH ID:C536447 | UMLS ID:C1291245 +BMGC_DS08251,BMG_DS032090,MONDO:0010133 | OMIM ID:274500 | UMLS ID:C1291299 | thyroid dyshormonogenesis 2A | Deficiency of iodide peroxidase | SNOMEDCT ID:124204003 | Deficiency of iodide peroxidase (disorder) | Deficiency of iodinase +BMGC_DS08252,BMG_DS032120,Transaldolase Deficiency | MONDO:0011624 | OMIM ID:606003 | transaldolase deficiency | MeSH ID:C563207 | UMLS ID:C1291329 +BMGC_DS08253,BMG_DS032162,MONDO:0014969 | OMIM ID:617213 | SNOMEDCT ID:124309005 | isolated sedoheptulokinase deficiency | Deficiency of heptulokinase | UMLS ID:C1291373 | Deficiency of sedoheptulokinase (disorder) | Deficiency of sedoheptulokinase +BMGC_DS08254,BMG_DS032175,ICD10 ID:E72.59 | D-glycericacidemia | MeSH ID:C535767 | D-glyceric aciduria | DOID:0111626 | UMLS ID:C1291386 +BMGC_DS08255,BMG_DS032190,MONDO:0043176 | Deficiency of ribose-phosphate pyrophosphokinase (disorder) | Phosphoribosylpyrophosphate synthetase deficiency | SNOMEDCT ID:124343001 | Deficiency of ribose-phosphate pyrophosphokinase | MeSH ID:C537897 | UMLS ID:C1291401 | phosphoribosylpyrophosphate synthetase deficiency +BMGC_DS08256,BMG_DS032249,Deficiency of phosphoserine phosphatase (disorder) | Deficiency of choline phosphatase | UMLS ID:C1291463 | Deficiency of phosphoserine phosphatase | MONDO:0013531 | PSPH deficiency | OMIM ID:614023 | SNOMEDCT ID:124432005 +BMGC_DS08257,BMG_DS032275,MONDO:0011093 | Hyaluronidase Deficiency | UMLS ID:C1291490 | mucopolysaccharidosis type 9 | OMIM ID:601492 | MeSH ID:C563209 +BMGC_DS08258,BMG_DS032297,MeSH ID:C563210 | OMIM ID:613161 | Beta-Ureidopropionase Deficiency | beta-ureidopropionase deficiency | UMLS ID:C1291512 | MONDO:0013164 +BMGC_DS08259,BMG_DS032344,Deficiency of phosphoribosylaminoimidazole carboxylase (disorder) | phosphoribosylaminoimidazole carboxylase deficiency | OMIM ID:619859 | MONDO:0859244 | UMLS ID:C1291561 | Deficiency of phosphoribosylaminoimidazole carboxylase | SNOMEDCT ID:124597000 +BMGC_DS08260,BMG_DS032347,UMLS ID:C1291564 | Deficiency of aromatic-L-amino-acid decarboxylase | Deficiency of aromatic-L-amino-acid decarboxylase (disorder) | DOID:0090123 | SNOMEDCT ID:124600004 | MONDO:0012084 | aromatic L-amino acid decarboxylase deficiency | Deficiency of hydroxytryptophan decarboxylase | Deficiency of dopa decarboxylase | Deficiency of tryptophan decarboxylase | OMIM ID:608643 +BMGC_DS08261,BMG_DS032389,maleylacetoacetate isomerase deficiency | OMIM ID:617596 | UMLS ID:C1291607 | SNOMEDCT ID:124664006 | MONDO:0060527 | Deficiency of maleylacetoacetate isomerase | GSTZ1-gene related deficiency of maleylacetoacetate isomerase | Deficiency of maleylacetoacetate isomerase (disorder) +BMGC_DS08262,BMG_DS032391,MeSH ID:C563212 | OMIM ID:608611 | MONDO:0012073 | ribose-5-P isomerase deficiency | Ribose 5-Phosphate Isomerase Deficiency | UMLS ID:C1291609 +BMGC_DS08263,BMG_DS032402,MONDO:0009113 | SNOMEDCT ID:124678007 | Deficiency of bisphosphoglycerate synthase | hemolytic anemia due to diphosphoglycerate mutase deficiency | Deficiency of bisphosphoglycerate mutase (disorder) | Deficiency of bisphosphoglycerate mutase | Deficiency of diphosphoglycerate mutase | UMLS ID:C1291620 | OMIM ID:222800 | Deficiency of glycerate phosphomutase +BMGC_DS08264,BMG_DS032437,MONDO:0020323 | UMLS ID:C1292754 | primary mediastinal large B-cell lymphoma +BMGC_DS08265,BMG_DS032438,T-lymphoblastic lymphoma | UMLS ID:C1292758 | MONDO:0044917 +BMGC_DS08266,BMG_DS032440,"UMLS ID:C1292772 | atypical chronic myeloid leukemia, BCR-ABL1 negative | MONDO:0004653 | DOID:0060597" +BMGC_DS08267,BMG_DS032441,acute myeloid leukemia with multilineage dysplasia | UMLS ID:C1292773 | MONDO:0019456 +BMGC_DS08268,BMG_DS032442,MONDO:0015166 | acute myeloid leukemia with t(8;21)(q22;q22) translocation | UMLS ID:C1292774 +BMGC_DS08269,BMG_DS032443,MONDO:0020317 | UMLS ID:C1292775 | acute myeloid leukemia with 11q23 abnormalities +BMGC_DS08270,BMG_DS032444,MONDO:0019457 | therapy related acute myeloid leukemia and myelodysplastic syndrome | UMLS ID:C1292776 +BMGC_DS08271,BMG_DS032445,aggressive NK-cell leukemia | MONDO:0019470 | UMLS ID:C1292777 | DOID:1035 +BMGC_DS08272,BMG_DS032446,UMLS ID:C1292778 | MONDO:0020076 | myeloproliferative neoplasm | DOID:2226 +BMGC_DS08273,BMG_DS032453,MeSH ID:D006959 | ICD10 ID:E72.53 | Oxalosis | Oxalosis (disorder) | UMLS ID:C1298681 | SNOMEDCT ID:373607009 | Hyperoxaluria +BMGC_DS08274,BMG_DS032456,cleft lip and alveolus | MONDO:0015420 | UMLS ID:C1298692 +BMGC_DS08275,BMG_DS032604,MONDO:0004259 | DOID:7519 | endocervical carcinoma | UMLS ID:C1299237 +BMGC_DS08276,BMG_DS032605,DOID:2892 | MONDO:0002455 | UMLS ID:C1299238 | exocervical carcinoma +BMGC_DS08277,BMG_DS032606,UMLS ID:C1299239 | DOID:7764 | MONDO:0004358 | subglottis carcinoma +BMGC_DS08278,BMG_DS032607,carcinoma of supraglottis | UMLS ID:C1299240 | MONDO:0004357 | DOID:7763 +BMGC_DS08279,BMG_DS032608,UMLS ID:C1299247 | DOID:2394 | ovarian cancer +BMGC_DS08280,BMG_DS032610,MeSH ID:D003324 | UMLS ID:C1299433 | Left Main Coronary Artery Disease | Coronary Artery Disease +BMGC_DS08281,BMG_DS032638,SNOMEDCT ID:371139006 | Early cirrhosis | UMLS ID:C1299579 | Early cirrhosis (disorder) +BMGC_DS08282,BMG_DS032650,MONDO:0011479 | Postural Orthostatic Tachycardia Syndrome | UMLS ID:C1299624 | MeSH ID:D054972 | DOID:0111154 | OMIM ID:604715 | postural orthostatic tachycardia syndrome +BMGC_DS08283,BMG_DS032661,UMLS ID:C1299641 | Extravasation injury (disorder) | SNOMEDCT ID:371100002 | Extravasation injury +BMGC_DS08284,BMG_DS032676,Eosinophilic myositis (disorder) | UMLS ID:C1299884 | SNOMEDCT ID:370474006 | Eosinophilic myositis +BMGC_DS08285,BMG_DS032717,UMLS ID:C1300127 | neoplasm with perivascular epithelioid cell differentiation | perivascular epithelioid cell tumor | MONDO:0006359 | DOID:2643 +BMGC_DS08286,BMG_DS032718,chronic lacrimal gland enlargement | UMLS ID:C1300133 | Chronic enlargement of lacrimal gland (disorder) | SNOMEDCT ID:4839005 | Chronic lacrimal gland enlargement | ICD10 ID:H04.03 | DOID:12809 | MONDO:0001588 | Chronic enlargement of lacrimal gland +BMGC_DS08287,BMG_DS032724,Genochondromatosis (disorder) | SNOMEDCT ID:389264005 | OMIM ID:137360 | MeSH ID:C563215 | genochondromatosis | UMLS ID:C1300229 | Genochondromatosis | MONDO:0007653 +BMGC_DS08288,BMG_DS032731,"SNOMEDCT ID:389158007 | MONDO:0008547 | MeSH ID:C536508 | Thanatophoric dysplasia, type 2 (disorder) | UMLS ID:C1300257 | thanatophoric dysplasia type 2 | OMIM ID:187601 | Thanatophoric dysplasia, type 2" +BMGC_DS08289,BMG_DS032732,"spondyloepimetaphyseal dysplasia, sponastrime type | UMLS ID:C1300260 | MONDO:0010068 | OMIM ID:271510 | Spondyloepimetaphyseal dysplasia, sponastrime type | MeSH ID:C535786" +BMGC_DS08290,BMG_DS032738,Brachydactyly syndrome type C (disorder) | Brachydactyly syndrome type C | brachydactyly type C | UMLS ID:C1300268 | SNOMEDCT ID:389169005 | DOID:0110970 +BMGC_DS08291,BMG_DS032743,"OMIM ID:606976 | microcephalic osteodysplastic dysplasia, Saul-Wilson type | DOID:0111673 | MONDO:0019407 | SAUL-WILSON SYNDROME | Saul-Wilson syndrome | UMLS ID:C1300285 | OMIM ID:618150" +BMGC_DS08292,BMG_DS032744,"Transient neonatal hyperparathyroidism | UMLS ID:C1300287 | OMIM ID:618188 | hyperparathyroidism, transient neonatal | MONDO:0032591 | SNOMEDCT ID:389201004 | Transient neonatal hyperparathyroidism (disorder)" +BMGC_DS08293,BMG_DS032749,UMLS ID:C1300347 | MONDO:0003236 | DOID:4993 | atypical polypoid adenomyoma +BMGC_DS08294,BMG_DS032752,DOID:7141 | prostate small cell carcinoma | MONDO:0006390 | UMLS ID:C1300585 +BMGC_DS08295,BMG_DS032757,UMLS ID:C1301048 | mixed ductal-endocrine carcinoma | MONDO:0004340 | mixed ductal-endocrine carcinoma of pancreas | DOID:7716 +BMGC_DS08296,BMG_DS032764,acantholytic acanthoma | UMLS ID:C1301270 | DOID:4324 | MONDO:0002963 +BMGC_DS08297,BMG_DS032766,myelodysplastic/myeloproliferative neoplasm | MONDO:0006311 | DOID:4972 | UMLS ID:C1301355 +BMGC_DS08298,BMG_DS032767,acute leukemia of ambiguous lineage | MONDO:0019460 | UMLS ID:C1301357 +BMGC_DS08299,BMG_DS032769,primary cutaneous anaplastic large cell lymphoma | UMLS ID:C1301362 | MONDO:0017598 +BMGC_DS08300,BMG_DS032770,MONDO:0019467 | UMLS ID:C1301363 | CD4+/CD56+ hematodermic neoplasm +BMGC_DS08301,BMG_DS032771,DOID:7849 | dendritic cell sarcoma | UMLS ID:C1301364 | MONDO:0004380 +BMGC_DS08302,BMG_DS032772,MONDO:0020332 | systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease | DOID:4797 | SM-AHNMD | UMLS ID:C1301365 +BMGC_DS08303,BMG_DS032782,UMLS ID:C1301509 | SNOMEDCT ID:397541004 | Severe visual impairment (disorder) | Severe visual impairment | OMIM ID:MTHU006121 +BMGC_DS08304,BMG_DS032784,UMLS ID:C1301518 | Vaccinia keratitis (disorder) | SNOMEDCT ID:397552005 | Vaccinia keratitis +BMGC_DS08305,BMG_DS032795,"Pre-eclampsia | Severe pre-eclampsia | SNOMEDCT ID:6758009 | EPH - Oedema, proteinuria and hypertension of pregnancy | Proteinuric hypertension of pregnancy | SNOMEDCT ID:46764007 | Pre-eclamptic toxemia | Severe pre-eclampsia (disorder) | EPH - Edema, proteinuria and hypertension of pregnancy | Pre-eclampsia (disorder) | Gestosis | Hypertension with albuminuria (disorder) | PET - Pre-eclamptic toxemia | PE - Pre-eclampsia | Severe pre-eclamptic toxaemia | PET - Severe pre-eclamptic toxemia | Pre-eclamptic toxaemia | PET - Pre-eclamptic toxaemia | Severe proteinuric hypertension of pregnancy | UMLS ID:C1301626 | Hypertension with albuminuria | PET - Severe pre-eclamptic toxaemia | Severe pre-eclamptic toxemia | SNOMEDCT ID:397748008" +BMGC_DS08306,BMG_DS032821,MONDO:0005484 | UMLS ID:C1302401 | colorectal adenoma +BMGC_DS08307,BMG_DS032825,prostate squamous cell carcinoma | DOID:10287 | UMLS ID:C1302530 | MONDO:0000993 +BMGC_DS08308,BMG_DS032827,MONDO:0003864 | chronic lymphocytic leukemia/small lymphocytic lymphoma | DOID:6354 | UMLS ID:C1302547 +BMGC_DS08309,BMG_DS032828,DOID:5207 | ovarian monodermal teratoma | MONDO:0003331 | UMLS ID:C1302569 | monodermal teratoma +BMGC_DS08310,BMG_DS032844,"MONDO:0009219 | UMLS ID:C1302740 | fascial dystrophy, congenital | OMIM ID:228020" +BMGC_DS08311,BMG_DS032873,UMLS ID:C1302848 | MONDO:0044656 | epidermolytic nevus +BMGC_DS08312,BMG_DS032887,congenital fibrosis of extraocular muscles | MONDO:0007614 | UMLS ID:C1302995 +BMGC_DS08313,BMG_DS032896,OMIM ID:156600 | UMLS ID:C1303009 | congenital microcoria | MONDO:0007989 +BMGC_DS08314,BMG_DS032899,UMLS ID:C1303073 | Nicolaides Baraitser syndrome | MONDO:0011053 | intellectual disability-sparse hair-brachydactyly syndrome | MeSH ID:C536116 | OMIM ID:601358 +BMGC_DS08315,BMG_DS032905,UMLS ID:C1303258 | Acute ST segment elevation myocardial infarction (disorder) | STEMI - ST elevation myocardial infarction | SNOMEDCT ID:401303003 | Acute ST segment elevation myocardial infarction +BMGC_DS08316,BMG_DS033048,UMLS ID:C1304177 | Idiopathic angioedema (disorder) | Idiopathic angio-oedema | SNOMEDCT ID:402382008 | Idiopathic angioedema +BMGC_DS08317,BMG_DS033060,DOID:0080747 | Autoimmune Urticaria | autoimmune urticaria | MONDO:0025513 | UMLS ID:C1304191 | chronic urticaria | Chronic Urticaria | MeSH ID:D000080223 +BMGC_DS08318,BMG_DS033062,DOID:0080747 | Chronic Autoimmune Urticaria | chronic urticaria | UMLS ID:C1304193 | Chronic Urticaria | MeSH ID:D000080223 +BMGC_DS08319,BMG_DS033105,MONDO:0007101 | Familial localised cutaneous amyloidosis | Familial localized cutaneous amyloidosis | UMLS ID:C1304242 | familial primary localized cutaneous amyloidosis | Familial localized cutaneous amyloidosis (disorder) | SNOMEDCT ID:402463003 +BMGC_DS08320,BMG_DS033124,DOID:4290 | adamantinoid basal cell epithelioma | MONDO:0002947 | UMLS ID:C1304295 +BMGC_DS08321,BMG_DS033127,DOID:4280 | nodular basal cell carcinoma | UMLS ID:C1304300 +BMGC_DS08322,BMG_DS033271,Linear and whorled nevoid hypermelanosis | linear and whorled nevoid hypermelanosis | OMIM ID:614323 | UMLS ID:C1304501 | Linear and whorled nevoid hypermelanosis (disorder) | MONDO:0013688 | Linear and whorled naevoid hypermelanosis | SNOMEDCT ID:403803002 +BMGC_DS08323,BMG_DS033276,spindle cell hemangioma | MONDO:0016222 | UMLS ID:C1304508 | DOID:496 +BMGC_DS08324,BMG_DS033277,subungual glomus tumor | UMLS ID:C1304510 | DOID:5236 | MONDO:0003341 +BMGC_DS08325,BMG_DS033278,UMLS ID:C1304511 | MONDO:0003172 | glomeruloid hemangioma | DOID:486 +BMGC_DS08326,BMG_DS033281,UMLS ID:C1304514 | Ischemic fasciitis (disorder) | Ischaemic fasciitis | Ischemic fasciitis (morphologic abnormality) | MONDO:0004834 | SNOMEDCT ID:403990005 | DOID:9601 | SNOMEDCT ID:1295240006 | ischemic fasciitis | Ischemic fasciitis +BMGC_DS08327,BMG_DS033289,"SNOMEDCT ID:195265003 | ICD11 ID:BD50.51 | Thoracoabdominal aortic aneurysm with rupture | Thoracoabdominal aortic aneurysm, ruptured (disorder) | ICD10 ID:I71.5 | UMLS ID:C1305122 | Thoracoabdominal aortic aneurysm, ruptured | DOID:3627 | aortic aneurysm" +BMGC_DS08328,BMG_DS033292,DOID:3615 | MONDO:0002710 | infiltrating angiolipoma | UMLS ID:C1305256 +BMGC_DS08329,BMG_DS033296,breast fibroadenosis | DOID:10352 | Fibroadenosis breast | UMLS ID:C1305875 | SNOMEDCT ID:23260002 | ICD10 ID:N60.2 | Fibroadenosis - breast | SNOMEDCT ID:270893004 | Adenosis - breast | Fibroadenosis of breast | Breast: [fibroadenosis] or [adenosis] (disorder) | Breast: [fibroadenosis] or [adenosis] | ICD11 ID:GB20.1 | Fibroadenosis of breast (disorder) +BMGC_DS08330,BMG_DS033298,Benign familial haematuria | UMLS ID:C1305904 | Hereditary nephritis | Familial hematuria | Familial haematuria | GN - Hereditary glomerulonephritis | Familial hematuria (disorder) | Benign familial hematuria | Hereditary nephritis (disorder) | Hereditary glomerulonephritis | Non-progressive hereditary glomerulonephritis | SNOMEDCT ID:399094007 | SNOMEDCT ID:57333009 | Alport's syndrome | Familial nephritis +BMGC_DS08331,BMG_DS033302,UMLS ID:C1305934 | MONDO:0004808 | benign mammary dysplasia +BMGC_DS08332,BMG_DS033321,developmental dysplasia of the hip 1 | OMIM ID:142700 | MONDO:0007729 | UMLS ID:C1306065 +BMGC_DS08333,BMG_DS033324,Oguchi's disease (disorder) | MeSH ID:C537743 | UMLS ID:C1306122 | congenital stationary night blindness | Oguchi disease | MONDO:0019152 | hereditary night blindness | DOID:8498;DOID:0050534 | SNOMEDCT ID:193687000 | Oguchi's disease +BMGC_DS08334,BMG_DS033328,ACTH-secreting pituitary adenoma | ACTH-producing pituitary gland adenoma | UMLS ID:C1306214 | DOID:7004 | MONDO:0006068 +BMGC_DS08335,BMG_DS033333,MONDO:0002558 | DOID:3205 | UMLS ID:C1306247 | melanotic neurilemmoma +BMGC_DS08336,BMG_DS033338,omphalocele | UMLS ID:C1306503 | umbilical hernia | DOID:0060327;DOID:0060321 +BMGC_DS08337,BMG_DS033339,chronic venous insufficiency | SNOMEDCT ID:20696009 | Chronic venous insufficiency | Peripheral venous insufficiency (disorder) | Peripheral venous insufficiency | MONDO:0000492 | UMLS ID:C1306557 +BMGC_DS08338,BMG_DS033341,botryoid rhabdomyosarcoma | DOID:3255 | UMLS ID:C1306573 +BMGC_DS08339,BMG_DS033344,SNOMEDCT ID:2776000 | Acute organic reaction | ABS - Acute brain syndrome | Acute encephalopathy | Delirium | Acute psycho-organic syndrome | OBS - Organic brain syndrome | OMIM ID:MTHU004221 | Acute brain syndrome | SNOMEDCT ID:35610006 | Acute brain syndrome (disorder) | Acute confusional state | UMLS ID:C1306587 | Delirium (disorder) | Organic brain syndrome +BMGC_DS08340,BMG_DS033345,"Hereditary erythroblast multinuclearity with positive acid serum test | congenital dyserythropoietic anemia type II | DOID:0111401 | OMIM ID:224100 | congenital dyserythropoietic anemia type 2 | UMLS ID:C1306589 | MONDO:0009134 | HEMPAS - hereditary erythroblast multinuclearity with positive acid serum test | Congenital dyserythropoietic anaemia, type II | SNOMEDCT ID:68870007 | Congenital dyserythropoietic anemia, type II | Congenital dyserythropoietic anemia, type II (disorder)" +BMGC_DS08341,BMG_DS033357,wound botulism | Wound Botulism | MONDO:0015803 | Botulism | MeSH ID:D001906 | UMLS ID:C1306794 +BMGC_DS08342,BMG_DS033362,Self-limiting autoimmune thyroiditis with transient hyperthyroidism and/or hypothyroidism (disorder) | Subacute lymphocytic thyroiditis | SNOMEDCT ID:18018005 | MONDO:0004135 | subacute lymphocytic thyroiditis | DOID:7187 | Self-limiting autoimmune thyroiditis with transient hyperthyroidism and/or hypothyroidism | SNOMEDCT ID:361126006 | UMLS ID:C1306804 | Subacute lymphocytic thyroiditis (disorder) +BMGC_DS08343,BMG_DS033364,Periarthritis of shoulder (disorder) | Periarthritis of shoulder | ICD11 ID:FB53.0 | Duplay periarthritis syndrome | ICD10 ID:M75.0 | SNOMEDCT ID:8753005 | SNOMEDCT ID:399114005 | SNOMEDCT ID:36527001 | Adhesive capsulitis of shoulder (disorder) | UMLS ID:C1306835 | Adhesive capsulitis of shoulder | Frozen shoulder | Scapulohumeral myofibrosis | Pericapsulitis of shoulder | Scapulohumeral fibrositis | Duplay's periarthritis syndrome +BMGC_DS08344,BMG_DS033365,DOID:4465 | MONDO:0017884 | papillary renal cell carcinoma | UMLS ID:C1306837 +BMGC_DS08345,BMG_DS033366,Degenerative polyarthritis | OA - Osteoarthritis | Osteoarthrosis | Atrophic arthritis | RhA - Rheumatoid arthritis | OA - Osteoarthrosis | SNOMEDCT ID:80843008 | Proliferative arthritis | Rheumatoid disease | Degenerative arthritis | Rheumatoid arthritis (disorder) | Hypertrophic polyarthritis | Hypertrophic arthritis | SNOMEDCT ID:69896004 | RA - Rheumatoid arthritis | Degenerative joint disease | Osteoarthritis (disorder) | Osteoarthritis | Rheumatic gout | Proliferative arthritis (disorder) | SNOMEDCT ID:224729007 | Degenerative joint disease (disorder) | Rheumatoid arthritis | Degenerative arthropathy | SNOMEDCT ID:267888004 | UMLS ID:C1306838 +BMGC_DS08346,BMG_DS033375,SNOMEDCT ID:399957001 | Peripheral arterial occlusive disease | Peripheral angiopathy | Peripheral vascular disease | Peripheral vascular disease (disorder) | SNOMEDCT ID:91523003 | Peripheral artery occlusive disease | PAOD - Peripheral arterial occlusive disease | Peripheral arterial disease | PVD - Peripheral vascular disease | UMLS ID:C1306889 | Peripheral arterial occlusive disease (disorder) +BMGC_DS08347,BMG_DS033377,Primary (congenital) lymphoedema | SNOMEDCT ID:75127007 | Milroy's disease | Hereditary oedema of legs | Primary (congenital) lymphedema | hereditary lymphedema | Hereditary edema of legs (disorder) | Hereditary edema of legs | DOID:0050580 | SNOMEDCT ID:205542007 | UMLS ID:C1313885 | Hereditary trophoedeme | Hereditary trophedema | Congenital lymphedema | Hereditary trophoedema | Congenital lymphoedema +BMGC_DS08348,BMG_DS033380,"Trichorrhexis nodosa syndrome | MONDO:0021013 | trichothiodystrophy 4, nonphotosensitive | MeSH ID:C536556 | OMIM ID:234050 | UMLS ID:C1313961" +BMGC_DS08349,BMG_DS033383,Acute contagious conjunctivitis (disorder) | SNOMEDCT ID:240066005 | SNOMEDCT ID:17482009 | Mucopurulent conjunctivitis | UMLS ID:C1313983 | acute contagious conjunctivitis | Mucopurulent conjunctivitis (disorder) | Acute contagious conjunctivitis | MONDO:0001226 | DOID:11213 +BMGC_DS08350,BMG_DS033386,Hypertension complicating childbirth | UMLS ID:C1314752 | GH - Gestational hypertension | SNOMEDCT ID:48194001 | Pregnancy-induced hypertension (disorder) | PIH - Pregnancy-induced hypertension | Pregnancy-induced hypertension | Gestational hypertension | Hypertension induced by pregnancy +BMGC_DS08351,BMG_DS033388,Impetigo herpetiformis (disorder) | Generalised pustular psoriasis | pustular psoriasis 14 | UMLS ID:C1314968 | ICD10 ID:L40.1 | DOID:0080474;DOID:8503 | Pustular psoriasis | SNOMEDCT ID:65539006 | SNOMEDCT ID:200973000 | Impetigo herpetiformis | impetigo herpetiformis | MONDO:0004591 | ICD11 ID:EA90.40 | Pustular psoriasis (disorder) +BMGC_DS08352,BMG_DS033398,Necrotizing vasculitis (disorder) | Necrotizing vasculitis | UMLS ID:C1318520 | necrotizing vasculitis | SNOMEDCT ID:11791001 | Necrotising vasculitis | MONDO:0800113 +BMGC_DS08353,BMG_DS033400,acquired polycythemia | UMLS ID:C1318533 | secondary polycythemia | MONDO:0020115 | DOID:2834 +BMGC_DS08354,BMG_DS033401,MONDO:0002522 | tenosynovial giant cell tumor | DOID:314 | UMLS ID:C1318543 +BMGC_DS08355,BMG_DS033403,UMLS ID:C1318550 | myelodysplastic syndrome with excess blasts-1 | MONDO:0015040 +BMGC_DS08356,BMG_DS033405,DOID:0111359 | large congenital melanocytic nevus | UMLS ID:C1318558 +BMGC_DS08357,BMG_DS033406,Acute necrotising ulcerative stomatitis | Vincent's gingivitis | Trench mouth | Acute necrotising ulcerative gingivitis | Acute necrotizing ulcerative stomatitis | Acute necrotizing ulcerative gingivitis (disorder) | SNOMEDCT ID:171847006 | Spirochetal stomatitis | Fusospirochetal pharyngitis (disorder) | Fusospirochaetal pharyngitis | Vincent's angina | ICD10 ID:A69.1 | Fusospirochetosis | UMLS ID:C1318559 | Acute ulceromembranous gingivitis | Unspecified bacterial disease | Acute ulcerative gingivitis | Fusospirochetal pharyngitis | Acute necrotizing ulcerative gingivitis | ICD11 ID:1C4Z | Spirochaetal stomatitis | ANUG | SNOMEDCT ID:399095008 +BMGC_DS08358,BMG_DS033417,MONDO:0005545 | UMLS ID:C1318973 | Staphylococcus aureus infection | SNOMEDCT ID:406602003 | staphylococcus aureus infection | Infection caused by Staphylococcus aureus (disorder) | Infection caused by Staphylococcus aureus +BMGC_DS08359,BMG_DS033442,MONDO:0005008 | colorectal adenocarcinoma | DOID:0050861 | UMLS ID:C1319315 +BMGC_DS08360,BMG_DS033443,MONDO:0000536 | UMLS ID:C1319317 | pharyngeal squamous cell carcinoma +BMGC_DS08361,BMG_DS033448,Barber-Say syndrome | MeSH ID:C537908 | OMIM ID:209885 | MONDO:0008853 | UMLS ID:C1319466 | Barber Say syndrome | DOID:0060549 +BMGC_DS08362,BMG_DS033453,"Asthma, Aspirin-Induced | UMLS ID:C1319853 | MeSH ID:D055963" +BMGC_DS08363,BMG_DS033476,Infection caused by Enterococcus | SNOMEDCT ID:406574007 | Infection caused by Enterococcus (disorder) | UMLS ID:C1320183 +BMGC_DS08364,BMG_DS033518,DOID:8082 | MONDO:0004454 | cellular congenital mesoblastic nephroma | UMLS ID:C1320471 +BMGC_DS08365,BMG_DS033520,SNOMEDCT ID:405821001 | UMLS ID:C1320547 | Allergic otitis externa (disorder) | Allergic otitis externa +BMGC_DS08366,BMG_DS033523,UMLS ID:C1320640 | MONDO:0001451 | DOID:12161 | ICD11 ID:9B78.4 | SNOMEDCT ID:95704002 | SNOMEDCT ID:61536007 | SNOMEDCT ID:193393004 | peripheral retinal degeneration | Peripheral retinal degeneration | Retina atrophic (disorder) | Peripheral degeneration of retina | Retina atrophic | Retinal atrophy | ICD10 ID:H35.4 | Peripheral retinal degeneration (disorder) +BMGC_DS08367,BMG_DS033538,MeSH ID:D047508 | UMLS ID:C1320834 | Massive Hepatic Necrosis | Drug-induced Hepatic Necrosis +BMGC_DS08368,BMG_DS033551,Paraneoplastic hyponatraemia | SNOMEDCT ID:405566004 | UMLS ID:C1321135 | Paraneoplastic hyponatremia | Paraneoplastic hyponatremia (disorder) +BMGC_DS08369,BMG_DS033555,mixed germ cell-sex cord neoplasm | mixed germ cell-sex cord-stromal tumor | DOID:2996 | MONDO:0002478 | UMLS ID:C1321220 +BMGC_DS08370,BMG_DS033578,DOID:8353 | epithelioid malignant peripheral nerve sheath tumor | UMLS ID:C1321427 | MONDO:0004540 +BMGC_DS08371,BMG_DS033589,Behçet disease affecting oral mucosa | Behçet's disease affecting oral mucosa | SNOMEDCT ID:403443000 | Behçet's disease affecting oral mucosa (disorder) | UMLS ID:C1321482 | Oral ulceration due to Behçet's disease +BMGC_DS08372,BMG_DS033591,DOID:0050465 | Muir-Torre syndrome | MONDO:0008018 | OMIM ID:158320 | UMLS ID:C1321489 +BMGC_DS08373,BMG_DS033595,"acromegaloid changes, cutis verticis gyrata, and corneal leukoma | MONDO:0007050 | UMLS ID:C1321495 | OMIM ID:102100" +BMGC_DS08374,BMG_DS033599,Velocardiofacial syndrome | 22q11 microdeletion with velocardiofacial syndrome phenotype | Shprintzen Goldberg craniosynostosis syndrome | UMLS ID:C1321551 | Marfanoid craniosynostosis syndrome | OMIM ID:182212 | Shprintzen-Goldberg syndrome | Shprintzen syndrome (disorder) | VCF-Velocardiofacial syndrome | MONDO:0008426 | SNOMEDCT ID:719069008 | SNOMEDCT ID:83092002 | Shprintzen syndrome | Shprintzen Goldberg craniosynostosis syndrome (disorder) | Velo-cardio-facial syndrome +BMGC_DS08375,BMG_DS033604,DOID:11684 | MONDO:0006579 | melanoacanthoma | UMLS ID:C1321683 +BMGC_DS08376,BMG_DS033605,UMLS ID:C1321709 | MONDO:0003862 | melanotic psammomatous malignant peripheral nerve sheath tumor | DOID:6344 +BMGC_DS08377,BMG_DS033609,"Pre-eclampsia | Severe pre-eclampsia | SNOMEDCT ID:6758009 | EPH - Oedema, proteinuria and hypertension of pregnancy | Proteinuric hypertension of pregnancy | SNOMEDCT ID:46764007 | Pre-eclamptic toxemia | Disorder of pregnancy (disorder) | EPH - Edema, proteinuria and hypertension of pregnancy | Severe pre-eclampsia (disorder) | Pre-eclampsia (disorder) | Gestosis | PET - Pre-eclamptic toxemia | PE - Pre-eclampsia | Severe pre-eclamptic toxaemia | SNOMEDCT ID:173300003 | PET - Severe pre-eclamptic toxemia | UMLS ID:C1321782 | Pre-eclamptic toxaemia | PET - Pre-eclamptic toxaemia | Disorder of pregnancy | Severe proteinuric hypertension of pregnancy | Hypertension with albuminuria | PET - Severe pre-eclamptic toxaemia | Severe pre-eclamptic toxemia" +BMGC_DS08378,BMG_DS033611,DOID:3079 | UMLS ID:C1321865 | childhood astrocytic tumor | MONDO:0002505 +BMGC_DS08379,BMG_DS033612,MONDO:0004045 | DOID:6938 | childhood intraocular retinoblastoma | pediatric intraocular retinoblastoma | UMLS ID:C1321869 +BMGC_DS08380,BMG_DS033613,DOID:7747 | UMLS ID:C1321870 | pediatric extraocular retinoblastoma | childhood extraocular retinoblastoma | MONDO:0004350 +BMGC_DS08381,BMG_DS033616,MONDO:0002206 | sweat gland cancer | DOID:2095 | UMLS ID:C1321904 +BMGC_DS08382,BMG_DS033619,DOID:3774 | UMLS ID:C1322252 | chordoid glioma | MONDO:0016706 | chordoid glioma of the third ventricle +BMGC_DS08383,BMG_DS033622,UMLS ID:C1322286 | type C thymoma | DOID:4554 +BMGC_DS08384,BMG_DS033624,rectosigmoid cancer | DOID:2781 | rectosigmoid carcinoma | UMLS ID:C1327709 | MONDO:0002424 +BMGC_DS08385,BMG_DS033625,DOID:0090118 | congenital amegakaryocytic thrombocytopenia | MONDO:0800451 | UMLS ID:C1327915 +BMGC_DS08386,BMG_DS033626,MONDO:0009990 | OMIM ID:268130 | UMLS ID:C1327916 | Revesz syndrome +BMGC_DS08387,BMG_DS033628,OMIM ID:147750 | MeSH ID:C535544 | DOID:0111381 | MONDO:0007836 | UMLS ID:C1327918 | IVIC syndrome | Oculootoradial syndrome | IVIC (Instituto Venezolano de Investigaciones Cientificas) syndrome | Oculootoradial syndrome (disorder) | Oculo-oto-radial syndrome | SNOMEDCT ID:722019000 +BMGC_DS08388,BMG_DS033629,UMLS ID:C1327919 | MONDO:0008038 | ataxia-pancytopenia syndrome | MeSH ID:C563233 | Myelocerebellar Disorder | OMIM ID:159550 +BMGC_DS08389,BMG_DS033630,thymoma type B | DOID:3282 | MONDO:0016974 | UMLS ID:C1328042 +BMGC_DS08390,BMG_DS033632,Infection caused by Leishmania braziliensis (disorder) | Infection by Leishmania braziliensis | SNOMEDCT ID:721813000 | Mucocutaneous leishmaniasis | Espundia | Leishmania braziliensis complex | Infection caused by Leishmania braziliensis | ICD10 ID:B55.2 | SNOMEDCT ID:39625001 | Uta | DOID:9155 | Mucocutaneous infection caused by Leishmania (disorder) | mucocutaneous leishmaniasis | MONDO:0005859 | UMLS ID:C1328252 | Mucocutaneous infection caused by Leishmania | ICD11 ID:1F54.2 +BMGC_DS08391,BMG_DS033635,"Neuropathy, Ataxia, and Retinitis Pigmentosa | MONDO:0010794 | DOID:0111273 | OMIM ID:551500 | MeSH ID:C537396 | UMLS ID:C1328349 | NARP syndrome" +BMGC_DS08392,BMG_DS033636,Shabbir syndrome | LOC syndrome | laryngo-onycho-cutaneous syndrome | Laryngo-onycho-cutaneous syndrome (disorder) | Laryngo-onycho-cutaneous syndrome | LOGIC syndrome | Laryngoonychocutaneous syndrome | MONDO:0009513 | OMIM ID:245660 | UMLS ID:C1328355 | SNOMEDCT ID:722675000 +BMGC_DS08393,BMG_DS033638,DOID:1625 | MONDO:0002058 | breast adenoma | UMLS ID:C1328385 +BMGC_DS08394,BMG_DS033641,MONDO:0005893 | pancreatic endocrine carcinoma | UMLS ID:C1328479 | DOID:1798 +BMGC_DS08395,BMG_DS033643,MONDO:0850353 | UMLS ID:C1328504 | castration-resistant prostate carcinoma +BMGC_DS08396,BMG_DS033644,DOID:6587 | breast tubular carcinoma | invasive tubular breast carcinoma | MONDO:0003936 | UMLS ID:C1328544 +BMGC_DS08397,BMG_DS033645,SNOMEDCT ID:426958002 | UMLS ID:C1328577 | Empty follicle syndrome | Empty follicle syndrome (disorder) +BMGC_DS08398,BMG_DS033646,Autoimmune Lymphoproliferative Syndrome | DOID:6688 | autoimmune lymphoproliferative syndrome type 1 | UMLS ID:C1328840 | autoimmune lymphoproliferative syndrome | MONDO:0017979;MONDO:0011158 | OMIM ID:601859 | MeSH ID:D056735 +BMGC_DS08399,BMG_DS033651,UMLS ID:C1331534 | extrahepatic bile duct adenoma | DOID:5438 | MONDO:0003445 +BMGC_DS08400,BMG_DS033652,UMLS ID:C1331535 | MONDO:0003444 | intrahepatic bile duct adenoma | DOID:5437 +BMGC_DS08401,BMG_DS033654,UMLS ID:C1331541 | thymic dysplasia | DOID:7350 | MONDO:0004195 +BMGC_DS08402,BMG_DS033657,UMLS ID:C1331544 | DOID:13160 | scrotum melanoma | MONDO:0001652 +BMGC_DS08403,BMG_DS033660,UMLS ID:C1332079 | ALK-positive anaplastic large cell lymphoma | MONDO:0017602 +BMGC_DS08404,BMG_DS033661,neonatal abstinence syndrome | UMLS ID:C1332133 | DOID:9828 +BMGC_DS08405,BMG_DS033662,MeSH ID:C536012 | OMIM ID:100700 | DOID:6686 | MONDO:0007036 | UMLS ID:C1332135 | Achard syndrome +BMGC_DS08406,BMG_DS033663,acinar lung adenocarcinoma | DOID:6482 | UMLS ID:C1332137 | lung acinar adenocarcinoma | MONDO:0003892 +BMGC_DS08407,BMG_DS033664,DOID:3024 | UMLS ID:C1332139 | prostatic acinar adenocarcinoma | MONDO:0002493 +BMGC_DS08408,BMG_DS033665,MONDO:0018237 | acrofacial dysostosis | UMLS ID:C1332140 | Nager acrofacial dysostosis | DOID:5768 +BMGC_DS08409,BMG_DS033666,UMLS ID:C1332149 | MONDO:0003337 | DOID:5224 | acute hemorrhagic encephalitis +BMGC_DS08410,BMG_DS033669,UMLS ID:C1332167 | breast adenoid cystic carcinoma | adenoid cystic breast carcinoma | MONDO:0003185 | DOID:4877 +BMGC_DS08411,BMG_DS033670,thymic adenosquamous carcinoma | thymus adenosquamous carcinoma | MONDO:0003551 | DOID:5626 | UMLS ID:C1332171 +BMGC_DS08412,BMG_DS033672,DOID:8140 | adrenal gland ganglioneuroblastoma | MONDO:0004477 | UMLS ID:C1332176 +BMGC_DS08413,BMG_DS033674,adult astrocytic tumor | MONDO:0002503 | UMLS ID:C1332183 | DOID:3076 +BMGC_DS08414,BMG_DS033675,adult botryoid rhabdomyosarcoma | UMLS ID:C1332185 | DOID:6847 | MONDO:0004012 +BMGC_DS08415,BMG_DS033676,adult brain ependymoma | MONDO:0004352 | DOID:7750 | UMLS ID:C1332186 +BMGC_DS08416,BMG_DS033677,UMLS ID:C1332190 | DOID:3186 | adult oligodendroglioma +BMGC_DS08417,BMG_DS033678,MONDO:0003706 | adult brainstem astrocytoma | UMLS ID:C1332191 | DOID:5922 +BMGC_DS08418,BMG_DS033679,adult brain stem neoplasm | UMLS ID:C1332192 | DOID:4203 | MONDO:0024797 | brain stem cancer +BMGC_DS08419,BMG_DS033680,adult central nervous system immature teratoma | MONDO:0003734 | UMLS ID:C1332193 | DOID:6018 +BMGC_DS08420,BMG_DS033681,adult central nervous system mature teratoma | MONDO:0003732 | DOID:6016 | UMLS ID:C1332194 +BMGC_DS08421,BMG_DS033682,adult central nervous system mixed germ cell tumor | UMLS ID:C1332195 | DOID:7945 | MONDO:0004406 +BMGC_DS08422,BMG_DS033684,MONDO:0003260 | UMLS ID:C1332197 | adult cerebellar neoplasm | DOID:5056 +BMGC_DS08423,BMG_DS033685,clear cell sarcoma | UMLS ID:C1332198 | DOID:4233 +BMGC_DS08424,BMG_DS033687,MONDO:0003765 | DOID:6090 | adult leptomeningeal melanoma | UMLS ID:C1332204 +BMGC_DS08425,BMG_DS033688,DOID:5825 | adult lymphoma | UMLS ID:C1332206 | MONDO:0003660 +BMGC_DS08426,BMG_DS033689,UMLS ID:C1332207 | adult mesenchymal chondrosarcoma | MONDO:0003042 | DOID:4547 +BMGC_DS08427,BMG_DS033691,DOID:8251 | MONDO:0004513 | adult pleomorphic rhabdomyosarcoma | UMLS ID:C1332211 +BMGC_DS08428,BMG_DS033692,UMLS ID:C1332215 | adult spinal cord ependymoma | MONDO:0004361 | DOID:7788 +BMGC_DS08429,BMG_DS033693,DOID:2154 | adult kidney Wilms tumor | nephroblastoma | UMLS ID:C1332219 | MONDO:0024675 +BMGC_DS08430,BMG_DS033694,DOID:7875 | UMLS ID:C1332220 | MONDO:0004385 | adult xanthogranuloma +BMGC_DS08431,BMG_DS033695,adult endodermal sinus tumor | UMLS ID:C1332221 | MONDO:0003404 | adult yolk sac tumor | DOID:5348 +BMGC_DS08432,BMG_DS033696,MONDO:0003245 | DOID:5022 | UMLS ID:C1332222 | aflatoxin-related hepatocellular carcinoma | aflatoxins-related hepatocellular carcinoma +BMGC_DS08433,BMG_DS033697,MONDO:0004051 | DOID:6958 | aleukemic monocytic leukemia cutis | UMLS ID:C1332232 +BMGC_DS08434,BMG_DS033699,UMLS ID:C1332243 | DOID:3502 | ampulla of Vater adenocarcinoma | MONDO:0002670 | ampulla of vater adenocarcinoma +BMGC_DS08435,BMG_DS033700,DOID:5628 | MONDO:0003553 | ampulla of Vater adenosquamous carcinoma | UMLS ID:C1332245 | ampulla of vater adenosquamous carcinoma +BMGC_DS08436,BMG_DS033701,ampulla of vater clear cell adenocarcinoma | DOID:5308 | ampulla of Vater clear cell adenocarcinoma | UMLS ID:C1332246 | MONDO:0003388 +BMGC_DS08437,BMG_DS033702,UMLS ID:C1332248 | MONDO:0002736 | DOID:3693 | ampulla of Vater mucinous adenocarcinoma | ampulla of vater mucinous adenocarcinoma +BMGC_DS08438,BMG_DS033703,UMLS ID:C1332249 | DOID:3501 | MONDO:0002669 | ampullary signet ring cell adenocarcinoma +BMGC_DS08439,BMG_DS033704,ampulla of vater small cell neuroendocrine carcinoma | MONDO:0004117 | DOID:7136 | UMLS ID:C1332250 | ampulla of Vater small cell carcinoma +BMGC_DS08440,BMG_DS033705,DOID:5527 | UMLS ID:C1332251 | ampulla of Vater squamous cell carcinoma | MONDO:0003490 | ampulla of vater squamous cell carcinoma +BMGC_DS08441,BMG_DS033706,DOID:3447 | UMLS ID:C1332257 | anus adenocarcinoma | MONDO:0002652 +BMGC_DS08442,BMG_DS033707,DOID:3692 | anal canal adenocarcinoma | UMLS ID:C1332259 | MONDO:0002735 +BMGC_DS08443,BMG_DS033708,anal canal Paget disease | UMLS ID:C1332261 | DOID:8119 | MONDO:0004468 | anal canal Paget's disease +BMGC_DS08444,BMG_DS033710,Kaposi's sarcoma | DOID:8632 | UMLS ID:C1332265 +BMGC_DS08445,BMG_DS033712,DOID:5267 | anus leiomyosarcoma | MONDO:0003358 | UMLS ID:C1332267 +BMGC_DS08446,BMG_DS033713,MONDO:0001888 | UMLS ID:C1332268 | anus lymphoma | DOID:14139 +BMGC_DS08447,BMG_DS033714,anal margin basal cell carcinoma | MONDO:0002940 | UMLS ID:C1332269 | DOID:4283 +BMGC_DS08448,BMG_DS033715,perianal skin Paget disease | UMLS ID:C1332270 | perianal skin Paget's disease | DOID:7708 | MONDO:0004337 +BMGC_DS08449,BMG_DS033716,anal mucinous adenocarcinoma | anal colloid adenocarcinoma | MONDO:0002734 | UMLS ID:C1332272 | DOID:3691 +BMGC_DS08450,BMG_DS033717,UMLS ID:C1332273 | anal neuroendocrine tumor | anal canal neuroendocrine neoplasm | MONDO:0003504 | DOID:5545 +BMGC_DS08451,BMG_DS033718,anal Paget's disease | anal Paget disease | DOID:3446 | MONDO:0002651 | UMLS ID:C1332274 +BMGC_DS08452,BMG_DS033719,DOID:4066 | anus rhabdomyosarcoma | UMLS ID:C1332276 | MONDO:0002864 +BMGC_DS08453,BMG_DS033720,anus sarcoma | DOID:4067 | UMLS ID:C1332277 | MONDO:0002865 +BMGC_DS08454,BMG_DS033721,DOID:7175 | anal Buschke-Lowenstein tumor | MONDO:0004131 | anal verrucous carcinoma | UMLS ID:C1332278 +BMGC_DS08455,BMG_DS033723,MONDO:0002997 | anterior cranial fossa meningioma | UMLS ID:C1332301 | DOID:4436 +BMGC_DS08456,BMG_DS033724,MONDO:0003868 | UMLS ID:C1332302 | DOID:6381 | anterior foramen magnum meningioma +BMGC_DS08457,BMG_DS033725,UMLS ID:C1332308 | anterior optic tract meningioma | DOID:6334 | MONDO:0003858 +BMGC_DS08458,BMG_DS033726,MONDO:0003136 | UMLS ID:C1332309 | DOID:4780 | anti-basement membrane glomerulonephritis +BMGC_DS08459,BMG_DS033727,DOID:4510 | UMLS ID:C1332312 | aorta angiosarcoma | MONDO:0003023 +BMGC_DS08460,BMG_DS033728,DOID:5999 | MONDO:0003726 | UMLS ID:C1332314 | apocrine adenosis of breast +BMGC_DS08461,BMG_DS033729,breast apocrine carcinoma in situ | UMLS ID:C1332315 | DOID:8428 | MONDO:0004562 +BMGC_DS08462,BMG_DS033730,MONDO:0003934 | UMLS ID:C1332316 | DOID:6581 | breast apocrine carcinoma +BMGC_DS08463,BMG_DS033731,apocrine sweat gland neoplasm | MONDO:0003686 | UMLS ID:C1332318 | DOID:5876 +BMGC_DS08464,BMG_DS033733,UMLS ID:C1332328 | appendix lymphoma | MONDO:0001237 | DOID:11241 +BMGC_DS08465,BMG_DS033735,MONDO:0004295 | DOID:7596 | UMLS ID:C1332337 | asbestos-related lung carcinoma +BMGC_DS08466,BMG_DS033736,DOID:1790 | malignant mesothelioma | UMLS ID:C1332338 +BMGC_DS08467,BMG_DS033738,DOID:7559 | asymmetric motor neuropathy | MONDO:0004280 | UMLS ID:C1332341 +BMGC_DS08468,BMG_DS033739,UMLS ID:C1332342 | asynchronous multifocal osteogenic sarcoma | DOID:6697 | MONDO:0003968 +BMGC_DS08469,BMG_DS033740,MONDO:0004507 | UMLS ID:C1332346 | DOID:8227 | atypical breast papilloma +BMGC_DS08470,BMG_DS033741,UMLS ID:C1332355 | DOID:2048 | autoimmune hepatitis +BMGC_DS08471,BMG_DS033742,DOID:2621 | MONDO:0002366 | autonomic nervous system neoplasm | UMLS ID:C1332356 +BMGC_DS08472,BMG_DS033743,DOID:7941 | UMLS ID:C1332460 | MONDO:0004405 | Barrett adenocarcinoma | Barrett's adenocarcinoma +BMGC_DS08473,BMG_DS033744,basaloid carcinoma of the penis | MONDO:0004089 | penis basaloid carcinoma | UMLS ID:C1332462 | DOID:7047 +BMGC_DS08474,BMG_DS033745,MONDO:0004087 | UMLS ID:C1332463 | basaloid lung carcinoma | DOID:7045 | basaloid large cell lung carcinoma +BMGC_DS08475,BMG_DS033746,thymic basaloid carcinoma | MONDO:0004092 | DOID:7050 | UMLS ID:C1332464 | thymus basaloid carcinoma +BMGC_DS08476,BMG_DS033748,DOID:7181 | UMLS ID:C1332490 | MONDO:0004134 | benign dermal neurilemmoma +BMGC_DS08477,BMG_DS033752,MONDO:0004397 | DOID:7921 | mediastinal psammomatous neurilemmoma | benign mediastinal psammomatous neurilemmoma | UMLS ID:C1332513 +BMGC_DS08478,BMG_DS033753,DOID:3350 | UMLS ID:C1332517 | mesenchymal cell neoplasm +BMGC_DS08479,BMG_DS033757,MONDO:0003342 | benign perivascular tumor | UMLS ID:C1332532 | DOID:5238 +BMGC_DS08480,BMG_DS033763,DOID:6335 | MONDO:0003859 | bilateral meningioma of optic nerve | UMLS ID:C1332551 +BMGC_DS08481,BMG_DS033764,MONDO:0003089 | UMLS ID:C1332552 | bile duct mucoepidermoid carcinoma | extrahepatic bile duct mucoepidermoid carcinoma | DOID:4681 +BMGC_DS08482,BMG_DS033765,DOID:4767 | UMLS ID:C1332556 | classic pulmonary blastoma | MONDO:0003128 +BMGC_DS08483,BMG_DS033766,DOID:5306 | bladder clear cell adenocarcinoma | UMLS ID:C1332557 | MONDO:0003386 +BMGC_DS08484,BMG_DS033769,UMLS ID:C1332561 | bladder lymphoma | MONDO:0001381 | DOID:11821 +BMGC_DS08485,BMG_DS033770,DOID:6481 | UMLS ID:C1332563 | MONDO:0003891 | bladder signet ring cell adenocarcinoma +BMGC_DS08486,BMG_DS033771,MONDO:0004114 | DOID:7132 | urinary bladder small cell neuroendocrine carcinoma | UMLS ID:C1332564 +BMGC_DS08487,BMG_DS033775,UMLS ID:C1332579 | DOID:3367 | MONDO:0002624 | bone leiomyosarcoma +BMGC_DS08488,BMG_DS033776,UMLS ID:C1332581 | DOID:3381 | liposarcoma of bone | MONDO:0002634 +BMGC_DS08489,BMG_DS033777,primary bone lymphoma | bone lymphoma | MONDO:0017814 | DOID:6759 | UMLS ID:C1332582 +BMGC_DS08490,BMG_DS033778,UMLS ID:C1332591 | MONDO:0002628 | peripheral osteosarcoma | DOID:3374 +BMGC_DS08491,BMG_DS033780,UMLS ID:C1332602 | MONDO:0003700 | DOID:5913 | brachial plexus neoplasm +BMGC_DS08492,BMG_DS033781,UMLS ID:C1332606 | MONDO:0002214 | brain germinoma | DOID:2127 +BMGC_DS08493,BMG_DS033782,UMLS ID:C1332607 | brain sarcoma | DOID:2132 | MONDO:0002216 +BMGC_DS08494,BMG_DS033783,DOID:4860 | UMLS ID:C1332608 | brain stem astrocytic neoplasm | MONDO:0003173 +BMGC_DS08495,BMG_DS033784,DOID:5508 | brain stem ependymoma | UMLS ID:C1332609 | MONDO:0003477 +BMGC_DS08496,BMG_DS033785,MONDO:0003902 | brain stem angioblastoma | UMLS ID:C1332611 | brain stem hemangioblastoma | DOID:6501 +BMGC_DS08497,BMG_DS033786,UMLS ID:C1332612 | brainstem intraparenchymal clear cell meningioma | DOID:4209 | MONDO:0002916 +BMGC_DS08498,BMG_DS033787,MONDO:0003024 | breast angiosarcoma | DOID:4511 | UMLS ID:C1332614 +BMGC_DS08499,BMG_DS033788,MONDO:0003896 | breast capillary hemangioma | DOID:6491 | UMLS ID:C1332619 +BMGC_DS08500,BMG_DS033789,breast epithelioid hemangioma | DOID:6492 | MONDO:0003897 | UMLS ID:C1332627 +BMGC_DS08501,BMG_DS033790,MONDO:0003724 | DOID:5997 | UMLS ID:C1332628 | non-proliferative fibrocystic change of the breast +BMGC_DS08502,BMG_DS033792,DOID:6001 | breast fibrosarcoma | UMLS ID:C1332630 | MONDO:0003728 +BMGC_DS08503,BMG_DS033793,breast leiomyosarcoma | UMLS ID:C1332631 | MONDO:0003371 | DOID:5285 +BMGC_DS08504,BMG_DS033794,DOID:5701 | MONDO:0003593 | UMLS ID:C1332632 | breast liposarcoma +BMGC_DS08505,BMG_DS033797,breast rhabdomyosarcoma | MONDO:0002859 | UMLS ID:C1332637 | DOID:4060 +BMGC_DS08506,BMG_DS033798,UMLS ID:C1332640 | DOID:7030 | lung mucous gland adenoma | bronchial mucus gland adenoma | MONDO:0004079 +BMGC_DS08507,BMG_DS033800,C3 deficiency | DOID:8354 | complement component 3 deficiency | Complement component 3 deficiency (disorder) | SNOMEDCT ID:771443008 | UMLS ID:C1332655 | Complement component 3 deficiency +BMGC_DS08508,BMG_DS033802,UMLS ID:C1332840 | DOID:8415 | MONDO:0004556 | carcinoma arising in nasal papillomatosis +BMGC_DS08509,BMG_DS033803,MONDO:0003742 | DOID:6033 | heart fibrosarcoma | UMLS ID:C1332844 +BMGC_DS08510,BMG_DS033805,Kaposi's sarcoma | UMLS ID:C1332847 | DOID:8632 +BMGC_DS08511,BMG_DS033806,UMLS ID:C1332848 | MONDO:0003353 | heart leiomyosarcoma | DOID:5261 +BMGC_DS08512,BMG_DS033807,MONDO:0003841 | DOID:6285 | UMLS ID:C1332849 | heart lipoma +BMGC_DS08513,BMG_DS033808,MONDO:0003917 | heart lymphoma | DOID:6547 | UMLS ID:C1332850 +BMGC_DS08514,BMG_DS033809,MONDO:0006123 | UMLS ID:C1332852 | cardiac rhabdomyoma +BMGC_DS08515,BMG_DS033811,MONDO:0003645 | DOID:5776 | UMLS ID:C1332863 | cavernous hemangioma of face +BMGC_DS08516,BMG_DS033812,cavernous sinus meningioma | MONDO:0002996 | UMLS ID:C1332865 | DOID:4435 +BMGC_DS08517,BMG_DS033813,UMLS ID:C1332866 | DOID:3039 | cecum adenocarcinoma | MONDO:0006028 +BMGC_DS08518,BMG_DS033814,UMLS ID:C1332867 | MONDO:0002034 | cecum lymphoma | DOID:1522 +BMGC_DS08519,BMG_DS033816,MONDO:0003021 | DOID:4504 | central nervous system angiosarcoma | UMLS ID:C1332875 +BMGC_DS08520,BMG_DS033818,MONDO:0003882 | DOID:6451 | UMLS ID:C1332879 | central nervous system fibrosarcoma +BMGC_DS08521,BMG_DS033819,UMLS ID:C1332880 | central nervous system germ cell tumor | DOID:4439 | MONDO:0003000 +BMGC_DS08522,BMG_DS033820,MONDO:0003641 | DOID:5772 | central nervous system hematopoietic neoplasm | UMLS ID:C1332882 | central nervous system hematologic cancer +BMGC_DS08523,BMG_DS033821,DOID:6019 | central nervous system immature teratoma | UMLS ID:C1332883 | MONDO:0003735 +BMGC_DS08524,BMG_DS033822,UMLS ID:C1332884 | DOID:12969 | central nervous system leukemia | MONDO:0001606 +BMGC_DS08525,BMG_DS033823,central nervous system lipoma | MONDO:0003844 | DOID:6293 | UMLS ID:C1332885 +BMGC_DS08526,BMG_DS033824,MONDO:0003733 | DOID:6017 | central nervous system mature teratoma | UMLS ID:C1332886 +BMGC_DS08527,BMG_DS033825,UMLS ID:C1332887 | DOID:4955 | MONDO:0003222 | central nervous system melanocytic neoplasm +BMGC_DS08528,BMG_DS033826,central nervous system rhabdomyosarcoma | UMLS ID:C1332891 | DOID:4048 | MONDO:0002850 +BMGC_DS08529,BMG_DS033827,MONDO:0002217 | central nervous system sarcoma | DOID:2133 | UMLS ID:C1332892 +BMGC_DS08530,BMG_DS033829,DOID:3640 | UMLS ID:C1332895 | central nervous system teratoma | MONDO:0002718 +BMGC_DS08531,BMG_DS033830,DOID:8224 | MONDO:0004505 | central breast papilloma | UMLS ID:C1332896 +BMGC_DS08532,BMG_DS033831,cerebellar angioblastoma | MONDO:0003901 | cerebellar hemangioblastoma | DOID:6500 | UMLS ID:C1332900 +BMGC_DS08533,BMG_DS033832,MONDO:0003261 | DOID:5057 | UMLS ID:C1332902 | papillary meningioma of the cerebellum +BMGC_DS08534,BMG_DS033836,MONDO:0003843 | cerebral hemisphere lipoma | DOID:6291 | UMLS ID:C1332907 +BMGC_DS08535,BMG_DS033837,MONDO:0006133 | cervical adenoid cystic carcinoma | UMLS ID:C1332911 | DOID:4867 +BMGC_DS08536,BMG_DS033838,cervical clear cell adenocarcinoma | DOID:5303 | MONDO:0006135 | UMLS ID:C1332912 +BMGC_DS08537,BMG_DS033839,MONDO:0003665 | cervical endometrioid adenocarcinoma | UMLS ID:C1332913 | DOID:5830 +BMGC_DS08538,BMG_DS033840,DOID:7915 | cervical spinal canal and spinal cord meningioma | MONDO:0004396 | UMLS ID:C1332916 +BMGC_DS08539,BMG_DS033841,UMLS ID:C1332917 | cervical carcinosarcoma | DOID:4112 | MONDO:0002877 +BMGC_DS08540,BMG_DS033842,UMLS ID:C1332919 | DOID:3701 | MONDO:0002742 | cervical mucinous adenocarcinoma +BMGC_DS08541,BMG_DS033844,DOID:4707 | cervicomedullary junction neoplasm | MONDO:0003108 | UMLS ID:C1332923 +BMGC_DS08542,BMG_DS033846,chest wall lymphoma | MONDO:0003985 | UMLS ID:C1332933 | DOID:6758 +BMGC_DS08543,BMG_DS033847,chest wall parachordoma | DOID:8043 | UMLS ID:C1332934 | MONDO:0004443 +BMGC_DS08544,BMG_DS033848,MONDO:0002756 | UMLS ID:C1332936 | solitary plasmacytoma of chest wall | DOID:3723 +BMGC_DS08545,BMG_DS033849,UMLS ID:C1332944 | MONDO:0003992 | childhood botryoid rhabdomyosarcoma | DOID:6786 +BMGC_DS08546,BMG_DS033850,UMLS ID:C1332945 | DOID:6787 | childhood vagina botryoid rhabdomyosarcoma | MONDO:0003993 +BMGC_DS08547,BMG_DS033851,DOID:6789 | MONDO:0003995 | vulvar childhood botryoid-type embryonal rhabdomyosarcoma | UMLS ID:C1332946 +BMGC_DS08548,BMG_DS033852,MONDO:0004217 | UMLS ID:C1332948 | DOID:7429 | childhood brain germinoma +BMGC_DS08549,BMG_DS033854,DOID:6386 | UMLS ID:C1332950 | MONDO:0003870 | childhood brainstem astrocytoma +BMGC_DS08550,BMG_DS033855,UMLS ID:C1332951 | MONDO:0002914 | childhood brain stem neoplasm | DOID:4206 +BMGC_DS08551,BMG_DS033856,DOID:8078 | childhood central nervous system germinoma | MONDO:0004452 | UMLS ID:C1332953 +BMGC_DS08552,BMG_DS033857,childhood central nervous system immature teratoma | DOID:6654 | MONDO:0003958 | UMLS ID:C1332954 +BMGC_DS08553,BMG_DS033858,childhood central nervous system mature teratoma | MONDO:0003875 | DOID:6423 | UMLS ID:C1332955 +BMGC_DS08554,BMG_DS033859,DOID:7516 | childhood central nervous system mixed germ cell tumor | MONDO:0004257 | UMLS ID:C1332956 +BMGC_DS08555,BMG_DS033861,childhood cerebellar neoplasm | MONDO:0003263 | DOID:5059 | UMLS ID:C1332959 +BMGC_DS08556,BMG_DS033864,MONDO:0017043 | UMLS ID:C1332965 | DOID:4773 | congenital mesoblastic nephroma +BMGC_DS08557,BMG_DS033865,MONDO:0004176 | childhood extraosseous osteosarcoma | UMLS ID:C1332968 | DOID:7297 +BMGC_DS08558,BMG_DS033867,"childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered | DOID:7522 | MONDO:0004263 | pediatric infratentorial ependymoblastoma | UMLS ID:C1332972" +BMGC_DS08559,BMG_DS033868,MONDO:0002915 | UMLS ID:C1332973 | childhood infratentorial neoplasm | DOID:4207 +BMGC_DS08560,BMG_DS033869,MONDO:0004306 | childhood intracortical osteosarcoma | UMLS ID:C1332974 | DOID:7612 +BMGC_DS08561,BMG_DS033870,UMLS ID:C1332976 | DOID:6089 | childhood leptomeningeal melanoma | pediatric leptomeningeal melanoma | MONDO:0003764 +BMGC_DS08562,BMG_DS033871,MONDO:0004355 | DOID:7757 | UMLS ID:C1332977 | childhood leukemia +BMGC_DS08563,BMG_DS033872,UMLS ID:C1332979 | pediatric lymphoma | MONDO:0003659 | DOID:5823 | childhood lymphoma +BMGC_DS08564,BMG_DS033873,UMLS ID:C1332981 | childhood mediastinal neurogenic neoplasm | childhood mediastinal neurogenic tumor | DOID:4690 | MONDO:0003097 +BMGC_DS08565,BMG_DS033874,DOID:4546 | pediatric mesenchymal chondrosarcoma | MONDO:0003041 | UMLS ID:C1332982 | childhood mesenchymal chondrosarcoma +BMGC_DS08566,BMG_DS033875,childhood multilocular cystic kidney neoplasm | UMLS ID:C1332983 | DOID:7762 | MONDO:0004356 +BMGC_DS08567,BMG_DS033876,MONDO:0003898 | DOID:6494 | childhood myxoid chondrosarcoma | pediatric myxoid chondrosarcoma | UMLS ID:C1332984 +BMGC_DS08568,BMG_DS033877,UMLS ID:C1332986 | DOID:3361 | childhood osteosarcoma | MONDO:0002623 | pediatric osteosarcoma +BMGC_DS08569,BMG_DS033878,childhood choriocarcinoma of the ovary | MONDO:0004535 | UMLS ID:C1332987 | DOID:8336 +BMGC_DS08570,BMG_DS033879,DOID:7340 | pediatric ovarian dysgerminoma | childhood ovarian dysgerminoma | MONDO:0004193 | UMLS ID:C1332988 +BMGC_DS08571,BMG_DS033880,DOID:8036 | MONDO:0004441 | childhood ovarian embryonal carcinoma | UMLS ID:C1332989 +BMGC_DS08572,BMG_DS033881,childhood immature teratoma of ovary | DOID:7037 | MONDO:0004082 | UMLS ID:C1332990 +BMGC_DS08573,BMG_DS033882,MONDO:0003818 | DOID:6229 | childhood mature teratoma of the ovary | UMLS ID:C1332991 +BMGC_DS08574,BMG_DS033883,MONDO:0003819 | childhood teratoma of the ovary | DOID:6230 | UMLS ID:C1332992 +BMGC_DS08575,BMG_DS033884,MONDO:0003759 | DOID:6083 | childhood ovarian endodermal sinus tumor | UMLS ID:C1332993 | childhood ovarian yolk sac tumor +BMGC_DS08576,BMG_DS033885,DOID:5809 | childhood parosteal osteosarcoma | UMLS ID:C1332994 | MONDO:0003654 | childhood parosteal osteogenic sarcoma +BMGC_DS08577,BMG_DS033886,MONDO:0004000 | childhood pilocytic astrocytoma | UMLS ID:C1332995 | DOID:6812 +BMGC_DS08578,BMG_DS033889,MONDO:0004554 | childhood kidney angiomyolipoma | DOID:8410 | UMLS ID:C1333000 +BMGC_DS08579,BMG_DS033890,childhood kidney cell carcinoma | UMLS ID:C1333001 | MONDO:0003007 | DOID:4454 +BMGC_DS08580,BMG_DS033891,DOID:3675 | childhood kidney cancer | UMLS ID:C1333003 | childhood kidney neoplasm | MONDO:0002730 +BMGC_DS08581,BMG_DS033892,DOID:6160 | MONDO:0003786 | childhood choriocarcinoma of the testis | childhood testicular choriocarcinoma | UMLS ID:C1333006 +BMGC_DS08582,BMG_DS033893,MONDO:0003788 | childhood embryonal testis carcinoma | UMLS ID:C1333007 | DOID:6162 +BMGC_DS08583,BMG_DS033894,MONDO:0003888 | UMLS ID:C1333008 | childhood testicular mixed embryonal carcinoma and teratoma | DOID:6474 | childhood teratocarcinoma of the testis +BMGC_DS08584,BMG_DS033895,childhood testicular mixed germ cell tumor | childhood testicular mixed germ cell cancer | UMLS ID:C1333009 | MONDO:0003787 | DOID:6161 +BMGC_DS08585,BMG_DS033896,MONDO:0037250 | UMLS ID:C1333010 | childhood testicular neoplasm | DOID:2998 | testicular cancer +BMGC_DS08586,BMG_DS033897,childhood optic tract astrocytoma | UMLS ID:C1333014 | DOID:6575 | MONDO:0003931 +BMGC_DS08587,BMG_DS033898,DOID:2154 | MONDO:0024676 | childhood kidney Wilms tumor | nephroblastoma | UMLS ID:C1333015 +BMGC_DS08588,BMG_DS033899,childhood endodermal sinus tumor | DOID:5342 | UMLS ID:C1333016 | MONDO:0003400 +BMGC_DS08589,BMG_DS033901,DOID:7041 | choroid epithelioid cell melanoma | UMLS ID:C1333024 | MONDO:0004085 +BMGC_DS08590,BMG_DS033902,UMLS ID:C1333025 | DOID:6525 | choroid mixed cell melanoma | MONDO:0003913 +BMGC_DS08591,BMG_DS033903,UMLS ID:C1333026 | DOID:7807 | choroid necrotic melanoma | MONDO:0004364 +BMGC_DS08592,BMG_DS033904,UMLS ID:C1333027 | choroid spindle cell melanoma | MONDO:0003745 | DOID:6041 +BMGC_DS08593,BMG_DS033905,postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma | chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation | MONDO:0004152 | DOID:7230 | UMLS ID:C1333037 +BMGC_DS08594,BMG_DS033906,DOID:8144 | UMLS ID:C1333038 | pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma | MONDO:0004478 +BMGC_DS08595,BMG_DS033907,MONDO:0004224 | DOID:7441 | chronic metabolic polyneuropathy | UMLS ID:C1333042 +BMGC_DS08596,BMG_DS033908,"myeloproliferative neoplasm, unclassifiable | UMLS ID:C1333046 | MONDO:0019452" +BMGC_DS08597,BMG_DS033909,chronic toxic polyneuropathy | UMLS ID:C1333048 | MONDO:0004372 | DOID:7825 +BMGC_DS08598,BMG_DS033910,DOID:7042 | ciliary body epithelioid cell melanoma | UMLS ID:C1333050 | MONDO:0004086 +BMGC_DS08599,BMG_DS033911,DOID:6523 | ciliary body mixed cell melanoma | MONDO:0003911 | UMLS ID:C1333051 +BMGC_DS08600,BMG_DS033912,ciliary body spindle cell melanoma | DOID:6043 | UMLS ID:C1333052 | MONDO:0003746 +BMGC_DS08601,BMG_DS033913,MONDO:0000967 | DOID:10193 | conventional lipoma | UMLS ID:C1333059 +BMGC_DS08602,BMG_DS033914,classic variant of chromophobe renal cell carcinoma | UMLS ID:C1333062 | MONDO:0003941 | DOID:6605 +BMGC_DS08603,BMG_DS033915,UMLS ID:C1333065 | lung clear cell-sugar-tumor | clear cell-sugar-tumor of the lung | DOID:5763 | MONDO:0003637 +BMGC_DS08604,BMG_DS033916,MONDO:0004475 | DOID:8137 | thymus clear cell carcinoma | UMLS ID:C1333069 +BMGC_DS08605,BMG_DS033917,clitoral carcinoma | clitoris cancer | MONDO:0024873 | DOID:2401 | UMLS ID:C1333070 +BMGC_DS08606,BMG_DS033918,MONDO:0003849 | DOID:6312 | UMLS ID:C1333071 | clivus chordoma +BMGC_DS08607,BMG_DS033919,clivus chondroid chordoma | MONDO:0003850 | DOID:6313 | UMLS ID:C1333072 +BMGC_DS08608,BMG_DS033920,DOID:6517 | UMLS ID:C1333073 | clivus meningioma | MONDO:0003908 +BMGC_DS08609,BMG_DS033921,MONDO:0004052 | UMLS ID:C1333074 | DOID:6959 | rectal cloacogenic carcinoma +BMGC_DS08610,BMG_DS033922,colloid carcinoma of the pancreas | UMLS ID:C1333081 | DOID:7717 | MONDO:0004341 +BMGC_DS08611,BMG_DS033923,MONDO:0003554 | UMLS ID:C1333082 | adenosquamous colon carcinoma | DOID:5629 +BMGC_DS08612,BMG_DS033926,cavernous hemangioma of colon | UMLS ID:C1333086 | MONDO:0003644 | DOID:5775 +BMGC_DS08613,BMG_DS033928,MONDO:0003997 | DOID:6804 | colon Kaposi sarcoma | UMLS ID:C1333091 +BMGC_DS08614,BMG_DS033929,colon leiomyoma | DOID:10656 | UMLS ID:C1333092 | MONDO:0001092 +BMGC_DS08615,BMG_DS033930,MONDO:0003351 | colon leiomyosarcoma | UMLS ID:C1333093 | DOID:5259 +BMGC_DS08616,BMG_DS033931,colonic lymphangioma | DOID:10657 | MONDO:0001093 | UMLS ID:C1333094 +BMGC_DS08617,BMG_DS033933,MONDO:0002882 | colon neuroendocrine neoplasm | DOID:4118 | UMLS ID:C1333097 +BMGC_DS08618,BMG_DS033934,MONDO:0003352 | UMLS ID:C1333098 | colon sarcoma | DOID:5260 +BMGC_DS08619,BMG_DS033935,colon small cell neuroendocrine carcinoma | MONDO:0003978 | colon small cell carcinoma | UMLS ID:C1333099 | DOID:6727 +BMGC_DS08620,BMG_DS033936,colon squamous cell carcinoma | DOID:5519 | squamous cell carcinoma of colon | UMLS ID:C1333100 | MONDO:0018513 +BMGC_DS08621,BMG_DS033938,large bowel leiomyoma | UMLS ID:C1333113 | DOID:5143 | colorectal leiomyoma | MONDO:0003299 +BMGC_DS08622,BMG_DS033939,DOID:6460 | UMLS ID:C1333114 | colorectal lipoma | large intestine lipoma | MONDO:0003885 +BMGC_DS08623,BMG_DS033941,columnar cell papillary thyroid carcinoma | MONDO:0004102 | columnar cell variant thyroid gland papillary carcinoma | DOID:7088 | UMLS ID:C1333120 +BMGC_DS08624,BMG_DS033942,MONDO:0004142 | lung combined large cell neuroendocrine carcinoma | UMLS ID:C1333122 | DOID:7207 +BMGC_DS08625,BMG_DS033944,UMLS ID:C1333125 | DOID:5421 | MONDO:0003438 | lung combined type small cell carcinoma | combined small cell lung carcinoma +BMGC_DS08626,BMG_DS033945,breast fibroadenoma | UMLS ID:C1333137 | DOID:1618 +BMGC_DS08627,BMG_DS033946,DOID:11200 | MONDO:0001222 | UMLS ID:C1333147 | congenital T-cell immunodeficiency | T cell deficiency +BMGC_DS08628,BMG_DS033947,conjunctival intraepithelial neoplasm | UMLS ID:C1333148 | DOID:5465 | MONDO:0003453 +BMGC_DS08629,BMG_DS033948,DOID:3641 | MONDO:0002719 | conus medullaris neoplasm | UMLS ID:C1333153 +BMGC_DS08630,BMG_DS033949,conventional angiosarcoma | DOID:4512 | UMLS ID:C1333155 | MONDO:0003025 +BMGC_DS08631,BMG_DS033950,DOID:3517 | conventional fibrosarcoma | MONDO:0002677 | UMLS ID:C1333156 +BMGC_DS08632,BMG_DS033951,UMLS ID:C1333157 | conventional leiomyosarcoma | DOID:5253 | MONDO:0003348 +BMGC_DS08633,BMG_DS033952,MONDO:0003800 | conventional malignant hemangiopericytoma | UMLS ID:C1333158 | DOID:6197 +BMGC_DS08634,BMG_DS033953,UMLS ID:C1333159 | DOID:6198 | corneal intraepithelial neoplasm | MONDO:0003801 +BMGC_DS08635,BMG_DS033954,UMLS ID:C1333160 | corpus callosum lipoma | MONDO:0003845 | DOID:6294 +BMGC_DS08636,BMG_DS033955,cranial pseudosarcomatous fasciitis | MONDO:0004186 | cranial nodular fasciitis | DOID:7326 | UMLS ID:C1333162 +BMGC_DS08637,BMG_DS033957,UMLS ID:C1333174 | DOID:10188 | skin lipoma +BMGC_DS08638,BMG_DS033958,MONDO:0003600 | DOID:5712 | cutaneous liposarcoma | UMLS ID:C1333175 +BMGC_DS08639,BMG_DS033959,capillary lymphangioma | skin lymphangioma | UMLS ID:C1333176 | MONDO:0024673 | DOID:2286 +BMGC_DS08640,BMG_DS033961,DOID:469 | deep hemangioma | deep angioma | MONDO:0003096 | UMLS ID:C1333265 +BMGC_DS08641,BMG_DS033962,MONDO:0003289 | DOID:5128 | deep leiomyoma | UMLS ID:C1333266 +BMGC_DS08642,BMG_DS033963,MONDO:0004096 | spinal cord dermoid cyst | DOID:7071 | UMLS ID:C1333278 +BMGC_DS08643,BMG_DS033965,UMLS ID:C1333283 | DOID:7103 | MONDO:0004108 | diaphragma sellae meningioma +BMGC_DS08644,BMG_DS033966,diencephalic astrocytoma | UMLS ID:C1333284 | MONDO:0003169 | diencephalic astrocytomas | DOID:4855 +BMGC_DS08645,BMG_DS033967,DOID:3843 | diencephalic neoplasm | UMLS ID:C1333286 +BMGC_DS08646,BMG_DS033969,DOID:6677 | MONDO:0003963 | DILS - diffuse infiltrative lymphocytosis syndrome | Diffuse infiltrative lymphocytosis syndrome (disorder) | Diffuse infiltrative lymphocytosis syndrome | diffuse infiltrative lymphocytosis syndrome | SNOMEDCT ID:449784008 | UMLS ID:C1333292 +BMGC_DS08647,BMG_DS033973,UMLS ID:C1333298 | diffuse lipomatosis | DOID:3923 | MONDO:0006539 +BMGC_DS08648,BMG_DS033974,UMLS ID:C1333306 | peripheral epithelioid sarcoma | MONDO:0004060 | DOID:6988 +BMGC_DS08649,BMG_DS033975,MONDO:0003707 | UMLS ID:C1333308 | distal biliary tract carcinoma | DOID:5923 +BMGC_DS08650,BMG_DS033976,MONDO:0004236 | duodenal somatostatinoma | UMLS ID:C1333320 | DOID:7479 +BMGC_DS08651,BMG_DS033977,UMLS ID:C1333321 | DOID:7959 | MONDO:0004411 | duodenal gastrin-producing neuroendocrine tumor | duodenal gastrinoma +BMGC_DS08652,BMG_DS033980,UMLS ID:C1333369 | MONDO:0004530 | DOID:8307 | early invasive cervical adenocarcinoma +BMGC_DS08653,BMG_DS033981,microinvasive cervical squamous cell carcinoma | DOID:8409 | UMLS ID:C1333370 | MONDO:0004552 +BMGC_DS08654,BMG_DS033982,MONDO:0002090 | DOID:173 | UMLS ID:C1333371 | eccrine sweat gland neoplasm +BMGC_DS08655,BMG_DS033984,OMIM ID:MTHU019219 | DOID:6307 | MONDO:0003848 | Ectopic thymus | UMLS ID:C1333375 | ectopic thymus +BMGC_DS08656,BMG_DS033985,DOID:7232 | UMLS ID:C1333377 | MONDO:0018843 | central nervous system embryonal carcinoma | embryonal carcinoma of the central nervous system +BMGC_DS08657,BMG_DS033986,UMLS ID:C1333383 | encapsulated thymoma | MONDO:0002587 | DOID:3278 +BMGC_DS08658,BMG_DS033987,MONDO:0003944 | UMLS ID:C1333386 | DOID:6608 | endobronchial leiomyoma +BMGC_DS08659,BMG_DS033988,DOID:5533 | endometrial squamous cell carcinoma | UMLS ID:C1333396 | MONDO:0006198 +BMGC_DS08660,BMG_DS033989,UMLS ID:C1333405 | MONDO:0003942 | eosinophilic variant of chromophobe renal cell carcinoma | DOID:6606 +BMGC_DS08661,BMG_DS033990,UMLS ID:C1333407 | MONDO:0003266 | high grade ependymoma | DOID:5074 | ependymal tumor +BMGC_DS08662,BMG_DS033991,epicardium lipoma | DOID:6284 | UMLS ID:C1333411 | MONDO:0003840 +BMGC_DS08663,BMG_DS033992,DOID:4323 | UMLS ID:C1333414 | MONDO:0002962 | epidermolytic acanthoma +BMGC_DS08664,BMG_DS033994,UMLS ID:C1333416 | DOID:3617 | epidural spinal canal angiolipoma | MONDO:0002712 +BMGC_DS08665,BMG_DS033995,MONDO:0002778 | epidural spinal canal meningioma | DOID:3809 | UMLS ID:C1333417 +BMGC_DS08666,BMG_DS033996,liver benign neoplasm | UMLS ID:C1333419 | DOID:916 +BMGC_DS08667,BMG_DS033997,epithelial predominant pulmonary blastoma | MONDO:0003129 | DOID:4768 | UMLS ID:C1333420 +BMGC_DS08668,BMG_DS033998,uveal epithelioid cell melanoma | UMLS ID:C1333422 | epithelioid cell uveal melanoma | DOID:7040 | MONDO:0006200 +BMGC_DS08669,BMG_DS034000,UMLS ID:C1333441 | DOID:4878 | esophageal adenoid cystic carcinoma | MONDO:0003186 +BMGC_DS08670,BMG_DS034001,UMLS ID:C1333443 | DOID:7051 | MONDO:0004093 | esophageal basaloid carcinoma | esophageal basaloid squamous cell carcinoma +BMGC_DS08671,BMG_DS034002,DOID:5040 | MONDO:0003251 | malignant granular cell esophageal tumor | esophageal granular cell tumor | UMLS ID:C1333448 +BMGC_DS08672,BMG_DS034003,Kaposi's sarcoma | UMLS ID:C1333453 | DOID:8632 +BMGC_DS08673,BMG_DS034004,UMLS ID:C1333454 | MONDO:0003365 | DOID:5276 | esophagus leiomyosarcoma +BMGC_DS08674,BMG_DS034006,esophagus liposarcoma | DOID:5694 | UMLS ID:C1333456 | MONDO:0003586 +BMGC_DS08675,BMG_DS034007,DOID:1106 | esophagus lymphoma | MONDO:0001188 | UMLS ID:C1333459 +BMGC_DS08676,BMG_DS034008,DOID:1108 | UMLS ID:C1333460 | MONDO:0001192 | esophageal melanoma | esophagus melanoma +BMGC_DS08677,BMG_DS034009,MONDO:0003093 | mucoepidermoid esophageal carcinoma | UMLS ID:C1333461 | DOID:4686 +BMGC_DS08678,BMG_DS034010,UMLS ID:C1333462 | esophageal neuroendocrine tumor | DOID:5784 +BMGC_DS08679,BMG_DS034011,neurofibroma of the esophagus | UMLS ID:C1333463 | DOID:961 | MONDO:0004837 +BMGC_DS08680,BMG_DS034012,DOID:1114 | MONDO:0001204 | esophagus sarcoma | UMLS ID:C1333466 +BMGC_DS08681,BMG_DS034014,DOID:3747 | esophagus verrucous carcinoma | MONDO:0002762 | UMLS ID:C1333470 +BMGC_DS08682,BMG_DS034015,ethmoid sinus adenocarcinoma | DOID:2766 | MONDO:0002418 | UMLS ID:C1333472 +BMGC_DS08683,BMG_DS034016,UMLS ID:C1333473 | MONDO:0006201 | DOID:2764 | ethmoid sinus adenoid cystic carcinoma +BMGC_DS08684,BMG_DS034017,DOID:6562 | UMLS ID:C1333474 | ethmoid sinus inverted papilloma | MONDO:0003925 +BMGC_DS08685,BMG_DS034018,MONDO:0004014 | DOID:6854 | UMLS ID:C1333475 | ethmoid sinus ectopic meningioma +BMGC_DS08686,BMG_DS034019,DOID:6559 | MONDO:0003923 | UMLS ID:C1333476 | ethmoid sinus Schneiderian papilloma +BMGC_DS08687,BMG_DS034020,ethmoid sinus squamous cell carcinoma | DOID:2763 | MONDO:0002416 | UMLS ID:C1333477 +BMGC_DS08688,BMG_DS034021,Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone | MONDO:0021123 | UMLS ID:C1333481 | DOID:3368 | Ewing sarcoma of bone +BMGC_DS08689,BMG_DS034023,MONDO:0002943 | UMLS ID:C1333491 | external ear basal cell carcinoma | DOID:4287 +BMGC_DS08690,BMG_DS034024,DOID:4288 | MONDO:0002944 | external ear carcinoma | UMLS ID:C1333492 +BMGC_DS08691,BMG_DS034025,UMLS ID:C1333494 | external ear squamous cell carcinoma | MONDO:0003501 | DOID:5538 +BMGC_DS08692,BMG_DS034026,MONDO:0002749 | DOID:371 | extracranial neuroblastoma | UMLS ID:C1333499 +BMGC_DS08693,BMG_DS034027,MONDO:0003668 | DOID:5838 | UMLS ID:C1333502 | extragonadal seminoma +BMGC_DS08694,BMG_DS034028,MONDO:0004462 | UMLS ID:C1333504 | DOID:8105 | extrahepatic bile duct cystadenoma +BMGC_DS08695,BMG_DS034029,MONDO:0002576 | embryonal extrahepatic bile duct rhabdomyosarcoma | UMLS ID:C1333505 | DOID:3253 +BMGC_DS08696,BMG_DS034031,extrahepatic bile duct leiomyosarcoma | UMLS ID:C1333508 | DOID:5293 | MONDO:0003377 +BMGC_DS08697,BMG_DS034032,extrahepatic bile duct lipoma | MONDO:0000978 | DOID:10209 | UMLS ID:C1333509 +BMGC_DS08698,BMG_DS034033,UMLS ID:C1333510 | DOID:7503 | MONDO:0004250 | extrahepatic bile duct papillary adenoma +BMGC_DS08699,BMG_DS034034,MONDO:0004353 | UMLS ID:C1333511 | DOID:7752 | extrahepatic biliary papillomatosis +BMGC_DS08700,BMG_DS034035,extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor | extraosseous Ewing sarcoma | MONDO:0021039 | UMLS ID:C1333514 | DOID:4232 +BMGC_DS08701,BMG_DS034036,fallopian tube adenocarcinoma | MONDO:0002746 | DOID:3706 | UMLS ID:C1333590 +BMGC_DS08702,BMG_DS034037,DOID:5301 | fallopian tube clear cell adenocarcinoma | MONDO:0003383 | UMLS ID:C1333591 +BMGC_DS08703,BMG_DS034038,UMLS ID:C1333592 | MONDO:0003666 | fallopian tube endometrioid adenocarcinoma | DOID:5831 +BMGC_DS08704,BMG_DS034039,MONDO:0004489 | DOID:8186 | fallopian tube gestational choriocarcinoma | UMLS ID:C1333593 +BMGC_DS08705,BMG_DS034040,fallopian tube papillary adenocarcinoma | MONDO:0003535 | DOID:5597 | UMLS ID:C1333595 +BMGC_DS08706,BMG_DS034041,fallopian tube squamous cell carcinoma | UMLS ID:C1333596 | MONDO:0003503 | DOID:5540 +BMGC_DS08707,BMG_DS034042,DOID:7986 | UMLS ID:C1333597 | cerebral falx meningioma | MONDO:0004422 +BMGC_DS08708,BMG_DS034044,DOID:5484 | UMLS ID:C1333616 | MONDO:0003465 | fibrous synovial sarcoma +BMGC_DS08709,BMG_DS034045,UMLS ID:C1333620 | flat ductal epithelial atypia | DOID:6841 | MONDO:0004008 +BMGC_DS08710,BMG_DS034049,DOID:4708 | MONDO:0003109 | UMLS ID:C1333630 | foramen magnum meningioma +BMGC_DS08711,BMG_DS034050,DOID:8000 | UMLS ID:C1333643 | frontal convexity meningioma | MONDO:0004426 +BMGC_DS08712,BMG_DS034051,DOID:8060 | MONDO:0004448 | UMLS ID:C1333644 | frontal sinus inverted papilloma +BMGC_DS08713,BMG_DS034052,frontal sinus Schneiderian papilloma | UMLS ID:C1333645 | MONDO:0003752 | DOID:6054 +BMGC_DS08714,BMG_DS034053,DOID:2441 | UMLS ID:C1333646 | frontal sinus squamous cell carcinoma | MONDO:0002301 +BMGC_DS08715,BMG_DS034054,MONDO:0006217 | UMLS ID:C1333741 | gallbladder adenosquamous carcinoma | DOID:5627 | adenosquamous gallbladder carcinoma +BMGC_DS08716,BMG_DS034055,DOID:4513 | UMLS ID:C1333742 | gallbladder angiosarcoma | MONDO:0003026 +BMGC_DS08717,BMG_DS034056,Kaposi's sarcoma | UMLS ID:C1333744 | DOID:8632 +BMGC_DS08718,BMG_DS034058,gallbladder leiomyosarcoma | DOID:5275 | MONDO:0003364 | UMLS ID:C1333746 +BMGC_DS08719,BMG_DS034060,DOID:8135 | MONDO:0004474 | UMLS ID:C1333748 | gallbladder lymphoma +BMGC_DS08720,BMG_DS034061,MONDO:0004484 | gallbladder melanoma | UMLS ID:C1333749 | DOID:8167 +BMGC_DS08721,BMG_DS034062,DOID:6998 | UMLS ID:C1333750 | gallbladder mucinous carcinoma | gallbladder mucinous adenocarcinoma | MONDO:0004067 +BMGC_DS08722,BMG_DS034063,neurofibroma of gallbladder | MONDO:0003303 | DOID:5150 | UMLS ID:C1333751 +BMGC_DS08723,BMG_DS034066,DOID:4057 | UMLS ID:C1333756 | gallbladder rhabdomyosarcoma | MONDO:0002856 +BMGC_DS08724,BMG_DS034067,MONDO:0002857 | gallbladder sarcoma | UMLS ID:C1333757 | DOID:4058 +BMGC_DS08725,BMG_DS034068,DOID:3499 | MONDO:0002667 | gallbladder signet ring cell adenocarcinoma | UMLS ID:C1333758 +BMGC_DS08726,BMG_DS034069,UMLS ID:C1333759 | MONDO:0006219 | gallbladder small cell neuroendocrine carcinoma | DOID:7133 | gallbladder small cell carcinoma +BMGC_DS08727,BMG_DS034070,MONDO:0004313 | DOID:7635 | gasserian ganglion meningioma | Gasserian ganglion meningioma | UMLS ID:C1333760 +BMGC_DS08728,BMG_DS034071,DOID:5635 | UMLS ID:C1333761 | MONDO:0006034 | gastric adenosquamous carcinoma +BMGC_DS08729,BMG_DS034072,gastric cardia adenocarcinoma | UMLS ID:C1333762 | DOID:6271 | MONDO:0003835 +BMGC_DS08730,BMG_DS034073,DOID:6270 | MONDO:0003834 | gastric cardia carcinoma | UMLS ID:C1333763 +BMGC_DS08731,BMG_DS034074,Cronkhite-Canada syndrome | DOID:6225 | UMLS ID:C1333764 +BMGC_DS08732,BMG_DS034075,UMLS ID:C1333767 | gastric gastrin-producing neuroendocrine tumor | gastric gastrinoma | MONDO:0003524 | DOID:5579 +BMGC_DS08733,BMG_DS034076,UMLS ID:C1333769 | malignant gastric germ cell tumor | DOID:4716 +BMGC_DS08734,BMG_DS034078,Kaposi's sarcoma | DOID:8632 | UMLS ID:C1333776 +BMGC_DS08735,BMG_DS034080,UMLS ID:C1333778 | DOID:5700 | MONDO:0003592 | gastric liposarcoma +BMGC_DS08736,BMG_DS034083,gastric neuroendocrine neoplasm | UMLS ID:C1333783 | DOID:4715 | MONDO:0003111 +BMGC_DS08737,BMG_DS034085,DOID:5593 | gastric papillary adenocarcinoma | MONDO:0006228 | UMLS ID:C1333785 +BMGC_DS08738,BMG_DS034086,MONDO:0003971 | UMLS ID:C1333787 | DOID:6703 | gastric pylorus carcinoma +BMGC_DS08739,BMG_DS034087,UMLS ID:C1333788 | DOID:6552 | gastric small cell neuroendocrine carcinoma | gastric small cell carcinoma | MONDO:0006229 +BMGC_DS08740,BMG_DS034088,DOID:5516 | MONDO:0006230 | gastric squamous cell carcinoma | UMLS ID:C1333789 +BMGC_DS08741,BMG_DS034089,MONDO:0003513 | DOID:5561 | UMLS ID:C1333790 | gastric teratoma +BMGC_DS08742,BMG_DS034090,DOID:6595 | UMLS ID:C1333791 | gastric tubular adenocarcinoma | MONDO:0006035 +BMGC_DS08743,BMG_DS034092,DOID:4148 | MONDO:0024503 | gastrointestinal neuroendocrine benign tumor | digestive system neuroendocrine neoplasm | UMLS ID:C1333799 +BMGC_DS08744,BMG_DS034093,central nervous system germinoma | MONDO:0002999 | DOID:4438 | UMLS ID:C1333813 +BMGC_DS08745,BMG_DS034094,MONDO:0003643 | giant hemangioma | UMLS ID:C1333817 | DOID:5774 +BMGC_DS08746,BMG_DS034095,MONDO:0004559 | DOID:8420 | malignant glandular tumor of peripheral nerve sheath | UMLS ID:C1333821 +BMGC_DS08747,BMG_DS034096,MONDO:0004035 | glomangiomatosis | UMLS ID:C1333824 | DOID:6906 +BMGC_DS08748,BMG_DS034097,granular cell leiomyosarcoma | UMLS ID:C1333871 | MONDO:0003350 | DOID:5258 +BMGC_DS08749,BMG_DS034098,neurohypophysis granular cell tumor | UMLS ID:C1333873 | granular cell tumor of the sellar region | DOID:5047 | MONDO:0003256 +BMGC_DS08750,BMG_DS034099,granulomatous endometritis | UMLS ID:C1333876 | DOID:4561 | MONDO:0003052 +BMGC_DS08751,BMG_DS034100,"DOID:5822 | UMLS ID:C1333878 | B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma | gray zone lymphoma | MONDO:0003658" +BMGC_DS08752,BMG_DS034105,hepatic angiomyolipoma | UMLS ID:C1333962 | DOID:3317 | MONDO:0002605 +BMGC_DS08753,BMG_DS034106,liver solitary fibrous tumor | DOID:907 | liver fibroma | UMLS ID:C1333965 | MONDO:0004705 +BMGC_DS08754,BMG_DS034107,MONDO:0004435 | DOID:8022 | UMLS ID:C1333966 | liver fibrosarcoma +BMGC_DS08755,BMG_DS034108,DOID:918 | liver inflammatory pseudotumor | liver inflammatory myofibroblastic tumor | UMLS ID:C1333967 | MONDO:0004726 +BMGC_DS08756,BMG_DS034109,UMLS ID:C1333968 | liver leiomyoma | MONDO:0004723 | DOID:917 +BMGC_DS08757,BMG_DS034110,UMLS ID:C1333969 | liver leiomyosarcoma | MONDO:0003378 | DOID:5296 +BMGC_DS08758,BMG_DS034111,MONDO:0000965 | UMLS ID:C1333970 | liver lipoma | DOID:10190 +BMGC_DS08759,BMG_DS034113,DOID:6370 | UMLS ID:C1333974 | MONDO:0003866 | liver extraskeletal osteosarcoma | hepatic osteogenic sarcoma +BMGC_DS08760,BMG_DS034114,UMLS ID:C1333975 | DOID:4047 | MONDO:0002849 | liver rhabdomyosarcoma +BMGC_DS08761,BMG_DS034115,liver benign neoplasm | liver and intrahepatic bile duct neoplasm | UMLS ID:C1333976 | MONDO:0024477 | DOID:916 +BMGC_DS08762,BMG_DS034116,MONDO:0019474 | hepatosplenic T-cell lymphoma | UMLS ID:C1333984 +BMGC_DS08763,BMG_DS034117,DOID:7192 | UMLS ID:C1333985 | hereditary clear cell renal cell carcinoma | hereditary conventional renal cell carcinoma | MONDO:0018492 +BMGC_DS08764,BMG_DS034118,DOID:7996 | familial glomangioma | UMLS ID:C1333987 +BMGC_DS08765,BMG_DS034119,DOID:4586 | UMLS ID:C1333989 | familial meningioma +BMGC_DS08766,BMG_DS034120,UMLS ID:C1333990 | hereditary nonpolyposis colon cancer | MONDO:0018630 +BMGC_DS08767,BMG_DS034121,Lynch syndrome 2 | MONDO:0012249 | OMIM ID:609310 | UMLS ID:C1333991 +BMGC_DS08768,BMG_DS034122,familial ovarian carcinoma | MONDO:0100514 | DOID:6901 | familiar ovarian carcinoma | UMLS ID:C1333992 +BMGC_DS08769,BMG_DS034123,UMLS ID:C1333996 | herpetic gastritis | DOID:6102 | MONDO:0003769 +BMGC_DS08770,BMG_DS034126,UMLS ID:C1334030 | MONDO:0006247 | DOID:5621 | histiocytic and dendritic cell neoplasm | histiocytic and dendritic cell cancer +BMGC_DS08771,BMG_DS034129,UMLS ID:C1334067 | DOID:13407 | MONDO:0001709 | hypercalcemic sarcoidosis +BMGC_DS08772,BMG_DS034130,hyperimmunoglobulin syndrome | DOID:2959 | MONDO:0002468 | UMLS ID:C1334069 +BMGC_DS08773,BMG_DS034132,DOID:3428 | granulomatous myositis | MONDO:0002644 | idiopathic granulomatous myositis | UMLS ID:C1334150 +BMGC_DS08774,BMG_DS034133,immature gastric teratoma | malignant gastric teratoma | UMLS ID:C1334151 | DOID:6948 | MONDO:0004048 +BMGC_DS08775,BMG_DS034136,DOID:5251 | inflammatory leiomyosarcoma | UMLS ID:C1334179 | MONDO:0003347 +BMGC_DS08776,BMG_DS034137,"UMLS ID:C1334180 | DOID:6192 | malignant inflammatory fibrous histiocytoma | MONDO:0006480 | undifferentiated pleomorphic sarcoma, inflammatory variant" +BMGC_DS08777,BMG_DS034138,MONDO:0004065 | DOID:6996 | intermediate cell type choroid melanoma | UMLS ID:C1334208 +BMGC_DS08778,BMG_DS034139,UMLS ID:C1334209 | DOID:6997 | intermediate cell type ciliary body melanoma | MONDO:0004066 +BMGC_DS08779,BMG_DS034140,MONDO:0004063 | DOID:6993 | UMLS ID:C1334210 | intermediate cell type iris melanoma | iris mixed cell melanoma +BMGC_DS08780,BMG_DS034142,DOID:5990 | internal auditory canal meningioma | UMLS ID:C1334227 | MONDO:0003722 +BMGC_DS08781,BMG_DS034143,intestinal neuroendocrine neoplasm | intestinal neuroendocrine benign tumor | DOID:4119 | MONDO:0002883 | UMLS ID:C1334231 +BMGC_DS08782,BMG_DS034144,intracerebral cystic meningioma | DOID:6113 | MONDO:0003773 | UMLS ID:C1334236 +BMGC_DS08783,BMG_DS034145,intracranial cavernous angioma | MONDO:0002327 | UMLS ID:C1334237 | DOID:2516 +BMGC_DS08784,BMG_DS034146,MONDO:0004392 | UMLS ID:C1334238 | intracranial chondrosarcoma | DOID:7903 | intracranial extraskeletal myxoid chondrosarcoma +BMGC_DS08785,BMG_DS034147,DOID:5714 | UMLS ID:C1334242 | intracranial liposarcoma | MONDO:0003602 +BMGC_DS08786,BMG_DS034151,UMLS ID:C1334252 | intraductal papillary breast neoplasm | MONDO:0002061 | DOID:1628 +BMGC_DS08787,BMG_DS034152,cauda equina intradural extramedullary astrocytoma | UMLS ID:C1334254 | MONDO:0003163 | DOID:4846 +BMGC_DS08788,BMG_DS034153,MONDO:0003545 | UMLS ID:C1334255 | DOID:5615 | intradural extramedullary spinal canal neoplasm | spinal canal intradural extramedullary neoplasm +BMGC_DS08789,BMG_DS034154,MONDO:0003979 | intrahepatic bile duct cystadenoma | DOID:6733 | UMLS ID:C1334257 +BMGC_DS08790,BMG_DS034155,intrahepatic biliary papillomatosis | MONDO:0004509 | DOID:8230 | UMLS ID:C1334258 +BMGC_DS08791,BMG_DS034156,UMLS ID:C1334259 | DOID:3639 | MONDO:0002717 | spinal cord intramedullary teratoma +BMGC_DS08792,BMG_DS034157,MONDO:0002888 | UMLS ID:C1334261 | DOID:4141 | intraorbital meningioma +BMGC_DS08793,BMG_DS034158,DOID:1140 | UMLS ID:C1334264 | intraspinal meningioma | spinal canal and spinal cord meningioma | MONDO:0001279 +BMGC_DS08794,BMG_DS034159,UMLS ID:C1334267 | intravascular angioleiomyoma | DOID:4266 | MONDO:0002934 +BMGC_DS08795,BMG_DS034160,intraventricular meningioma | DOID:3772 | UMLS ID:C1334271 | MONDO:0002772 +BMGC_DS08796,BMG_DS034163,MONDO:0003890 | infiltrating bladder urothelial carcinoma | UMLS ID:C1334281 | invasive bladder transitional cell carcinoma | DOID:6477 +BMGC_DS08797,BMG_DS034164,UMLS ID:C1334282 | inverted urothelial papilloma | DOID:5433 | urinary tract papillary transitional cell benign neoplasm | MONDO:0021109 +BMGC_DS08798,BMG_DS034165,UMLS ID:C1334287 | iris spindle cell melanoma | DOID:7328 | MONDO:0004188 +BMGC_DS08799,BMG_DS034167,UMLS ID:C1334297 | DOID:3216 | jejunal somatostatinoma | MONDO:0002563 +BMGC_DS08800,BMG_DS034168,jugular foramen meningioma | DOID:6110 | UMLS ID:C1334298 | MONDO:0003771 +BMGC_DS08801,BMG_DS034169,schwannoma of jugular foramen | MONDO:0003980 | DOID:6735 | UMLS ID:C1334300 +BMGC_DS08802,BMG_DS034171,Kaposi's sarcoma | UMLS ID:C1334318 | DOID:8632 +BMGC_DS08803,BMG_DS034172,UMLS ID:C1334323 | DOID:3116 | kidney benign neoplasm +BMGC_DS08804,BMG_DS034173,labia majora carcinoma | MONDO:0001702 | DOID:13389 | UMLS ID:C1334356 +BMGC_DS08805,BMG_DS034174,UMLS ID:C1334357 | labia minora carcinoma | MONDO:0001602 | DOID:1293 +BMGC_DS08806,BMG_DS034175,DOID:293 | lacrimal gland carcinoma | MONDO:0002463 | UMLS ID:C1334358 +BMGC_DS08807,BMG_DS034176,MONDO:0003092 | lacrimal gland mucoepidermoid carcinoma | UMLS ID:C1334359 | DOID:4685 +BMGC_DS08808,BMG_DS034178,DOID:292 | MONDO:0002460 | UMLS ID:C1334361 | lacrimal system cancer +BMGC_DS08809,BMG_DS034179,UMLS ID:C1334362 | DOID:4321 | large cell acanthoma | MONDO:0002961 +BMGC_DS08810,BMG_DS034180,UMLS ID:C1334363 | pulmonary large cell neuroendocrine carcinoma | DOID:6658 | MONDO:0003960 +BMGC_DS08811,BMG_DS034181,MONDO:0003047 | thymus large cell carcinoma | UMLS ID:C1334364 | DOID:4553 | thymic large cell neuroendocrine carcinoma +BMGC_DS08812,BMG_DS034182,UMLS ID:C1334368 | laryngeal adenoid cystic carcinoma | DOID:4869 | MONDO:0006264 +BMGC_DS08813,BMG_DS034183,DOID:10070 | UMLS ID:C1334370 | laryngeal leiomyoma | larynx leiomyoma | MONDO:0000934 +BMGC_DS08814,BMG_DS034184,DOID:5288 | UMLS ID:C1334371 | MONDO:0003374 | larynx leiomyosarcoma | laryngeal leiomyosarcoma +BMGC_DS08815,BMG_DS034185,MONDO:0003588 | DOID:5696 | UMLS ID:C1334372 | larynx liposarcoma +BMGC_DS08816,BMG_DS034186,UMLS ID:C1334373 | DOID:4688 | laryngeal mucoepidermoid carcinoma | MONDO:0003095 +BMGC_DS08817,BMG_DS034187,UMLS ID:C1334374 | laryngeal neuroendocrine neoplasm | MONDO:0015070 | laryngeal neuroendocrine tumor | DOID:5457 +BMGC_DS08818,BMG_DS034188,larynx sarcoma | DOID:2877 | laryngeal sarcoma | MONDO:0002448 | UMLS ID:C1334377 +BMGC_DS08819,BMG_DS034189,UMLS ID:C1334378 | MONDO:0006265 | laryngeal small cell carcinoma | DOID:7144 +BMGC_DS08820,BMG_DS034190,DOID:6115 | lateral ventricle meningioma | MONDO:0003775 | UMLS ID:C1334380 +BMGC_DS08821,BMG_DS034193,UMLS ID:C1334386 | leptomeningeal melanoma | meningeal melanoma | DOID:6085 | MONDO:0003761 +BMGC_DS08822,BMG_DS034194,DOID:3368 | Ewing sarcoma of bone | UMLS ID:C1334406 +BMGC_DS08823,BMG_DS034195,UMLS ID:C1334408 | DOID:3369 | Ewing sarcoma +BMGC_DS08824,BMG_DS034196,medulloblastoma | DOID:0050902 | UMLS ID:C1334410 +BMGC_DS08825,BMG_DS034198,lower clivus meningioma | DOID:8239 | UMLS ID:C1334434 | MONDO:0004511 +BMGC_DS08826,BMG_DS034199,UMLS ID:C1334436 | lumbar spinal canal and spinal cord meningioma | MONDO:0004256 | DOID:7515 +BMGC_DS08827,BMG_DS034200,lumbar plexus neoplasm | UMLS ID:C1334437 | MONDO:0004546 | DOID:8389 +BMGC_DS08828,BMG_DS034202,lung adenoid cystic carcinoma | MONDO:0003181 | UMLS ID:C1334439 | DOID:4872 +BMGC_DS08829,BMG_DS034204,hilar lung carcinoma | lung hilum carcinoma | MONDO:0004499 | UMLS ID:C1334445 | DOID:8207 +BMGC_DS08830,BMG_DS034205,UMLS ID:C1334447 | MONDO:0003293 | lung leiomyoma | DOID:5136 +BMGC_DS08831,BMG_DS034206,UMLS ID:C1334448 | MONDO:0003357 | DOID:5265 | lung leiomyosarcoma +BMGC_DS08832,BMG_DS034207,UMLS ID:C1334450 | DOID:5764 | MONDO:0003638 | lung meningioma +BMGC_DS08833,BMG_DS034208,lung neuroendocrine neoplasm | UMLS ID:C1334452 | DOID:5410 | MONDO:0005454 | pulmonary neuroendocrine tumor +BMGC_DS08834,BMG_DS034210,DOID:5766 | pulmonary sclerosing hemangioma | UMLS ID:C1334455 +BMGC_DS08835,BMG_DS034211,Kaposi's sarcoma | UMLS ID:C1334457 | DOID:8632 +BMGC_DS08836,BMG_DS034212,MONDO:0004205 | lymphohistiocytoid mesothelioma | UMLS ID:C1334464 | DOID:7381 +BMGC_DS08837,BMG_DS034213,MONDO:0003651 | DOID:5798 | UMLS ID:C1334543 | macrotrabecular hepatoblastoma +BMGC_DS08838,BMG_DS034218,UMLS ID:C1334556 | MONDO:0006069 | malignant ACTH producing neoplasm of pituitary gland | ACTH-producing pituitary gland carcinoma | DOID:6276 +BMGC_DS08839,BMG_DS034219,brain cancer | UMLS ID:C1334557 | DOID:1319 +BMGC_DS08840,BMG_DS034220,adult intracranial malignant hemangiopericytoma | DOID:6333 | MONDO:0003857 | UMLS ID:C1334558 +BMGC_DS08841,BMG_DS034221,aortic malignant tumor | MONDO:0004539 | UMLS ID:C1334560 | DOID:8352 +BMGC_DS08842,BMG_DS034222,apocrine sweat gland cancer | UMLS ID:C1334561 | MONDO:0003215 | DOID:4934 +BMGC_DS08843,BMG_DS034223,breast adenomyoepithelioma | DOID:1642 | UMLS ID:C1334564 +BMGC_DS08844,BMG_DS034224,breast malignant eccrine spiradenoma | DOID:7983 | MONDO:0004420 | UMLS ID:C1334565 +BMGC_DS08845,BMG_DS034225,DOID:14535 | malignant cardiac germ cell tumor | MONDO:0001991 | UMLS ID:C1334566 +BMGC_DS08846,BMG_DS034226,MONDO:0003743 | DOID:6034 | UMLS ID:C1334567 | heart malignant hemangiopericytoma +BMGC_DS08847,BMG_DS034227,DOID:14534 | UMLS ID:C1334569 | malignant cardiac peripheral nerve sheath neoplasm | MONDO:0001990 +BMGC_DS08848,BMG_DS034229,MONDO:0003933 | DOID:6579 | UMLS ID:C1334572 | chest wall bone cancer +BMGC_DS08849,BMG_DS034230,MONDO:0004479 | DOID:8149 | malignant childhood germ cell neoplasm | UMLS ID:C1334574 +BMGC_DS08850,BMG_DS034231,malignant granular cell skin tumor | MONDO:0004314 | malignant cutaneous granular cell skin tumor | DOID:7639 | UMLS ID:C1334575 +BMGC_DS08851,BMG_DS034232,UMLS ID:C1334576 | diencephalic neoplasm | MONDO:0002786 | diencephalic cancer | DOID:3843 +BMGC_DS08852,BMG_DS034233,UMLS ID:C1334577 | eccrine sweat gland cancer | MONDO:0005506 | DOID:4921 +BMGC_DS08853,BMG_DS034234,extragonadal germ cell cancer | UMLS ID:C1334581 | MONDO:0003113 | DOID:4717 +BMGC_DS08854,BMG_DS034235,UMLS ID:C1334582 | MONDO:0003578 | extragonadal nonseminomatous germ cell tumor | DOID:5677 | malignant extragonadal nonseminomatous germ cell tumor +BMGC_DS08855,BMG_DS034237,UMLS ID:C1334585 | malignant gastric granular cell tumor | DOID:10536 | MONDO:0001057 +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 | MONDO:0003762 | malignant leptomeningeal neoplasm | DOID:6086 | malignant leptomeningeal tumor +BMGC_DS08858,BMG_DS034241,malignant mediastinum hemangiopericytoma | UMLS ID:C1334598 | DOID:6209 | MONDO:0003809 +BMGC_DS08859,BMG_DS034243,malignant melanocytic peripheral nerve sheath tumor of mediastinum | UMLS ID:C1334600 | DOID:7077 | MONDO:0004098 +BMGC_DS08860,BMG_DS034244,UMLS ID:C1334602 | mixed epithelial stromal tumour | malignant mixed epithelial stromal tumor of the kidney | DOID:5088 | MONDO:0024711 +BMGC_DS08861,BMG_DS034245,UMLS ID:C1334603 | DOID:4236 | carcinosarcoma +BMGC_DS08862,BMG_DS034247,perivascular tumor | DOID:3316 | UMLS ID:C1334611 +BMGC_DS08863,BMG_DS034248,MONDO:0002073 | DOID:1660 | malignant pineal area germ cell neoplasm | UMLS ID:C1334612 +BMGC_DS08864,BMG_DS034249,prolactin producing pituitary tumor | MONDO:0006388 | DOID:5396 | prolactin-producing pituitary gland carcinoma | UMLS ID:C1334614 +BMGC_DS08865,BMG_DS034250,prostate malignant phyllodes tumor | DOID:10289 | malignant prostate phyllodes tumor | UMLS ID:C1334615 | MONDO:0000994 +BMGC_DS08866,BMG_DS034251,DOID:175 | UMLS ID:C1334616 | vascular cancer +BMGC_DS08867,BMG_DS034252,DOID:175 | UMLS ID:C1334617 | vascular cancer +BMGC_DS08868,BMG_DS034254,UMLS ID:C1334619 | skeletal muscle cancer | MONDO:0002847 | DOID:4043 +BMGC_DS08869,BMG_DS034255,smooth muscle cancer | UMLS ID:C1334620 | DOID:4230 | MONDO:0002924 +BMGC_DS08870,BMG_DS034256,UMLS ID:C1334624 | synovium cancer | DOID:2706 | MONDO:0002403 +BMGC_DS08871,BMG_DS034257,DOID:5345 | MONDO:0003403 | testicular non-seminomatous germ cell cancer | UMLS ID:C1334625 +BMGC_DS08872,BMG_DS034258,malignant thyroid stimulating hormone producing neoplasm of pituitary gland | UMLS ID:C1334627 | MONDO:0003836 | DOID:6274 +BMGC_DS08873,BMG_DS034259,uterine body mixed cancer | UMLS ID:C1334628 | MONDO:0002879 | DOID:4114 +BMGC_DS08874,BMG_DS034260,DOID:175 | UMLS ID:C1334630 | vascular cancer +BMGC_DS08875,BMG_DS034261,MONDO:0004007 | UMLS ID:C1334631 | breast intraductal proliferative lesion | DOID:6839 +BMGC_DS08876,BMG_DS034262,DOID:706 | mature B-cell neoplasm | UMLS ID:C1334633 | neoplasm of mature B-cells | MONDO:0004949 +BMGC_DS08877,BMG_DS034263,MONDO:0004467 | DOID:8118 | mature gastric teratoma | UMLS ID:C1334635 +BMGC_DS08878,BMG_DS034264,UMLS ID:C1334637 | mature ovarian teratoma | mature teratoma of the ovary | DOID:6231 | MONDO:0003820 +BMGC_DS08879,BMG_DS034267,DOID:7684 | UMLS ID:C1334642 | maxillary sinus adenocarcinoma | MONDO:0004328 +BMGC_DS08880,BMG_DS034268,DOID:7198 | UMLS ID:C1334643 | MONDO:0006297 | maxillary sinus adenoid cystic carcinoma +BMGC_DS08881,BMG_DS034269,DOID:867 | MONDO:0006577 | maxillary sinus cholesteatoma | UMLS ID:C1334644 +BMGC_DS08882,BMG_DS034270,DOID:7868 | UMLS ID:C1334645 | MONDO:0004384 | maxillary sinus inverted papilloma +BMGC_DS08883,BMG_DS034271,maxillary sinus Schneiderian papilloma | UMLS ID:C1334646 | DOID:8093 | MONDO:0004457 +BMGC_DS08884,BMG_DS034272,DOID:7910 | MONDO:0004394 | UMLS ID:C1334647 | maxillary sinus squamous cell carcinoma +BMGC_DS08885,BMG_DS034273,UMLS ID:C1334649 | mediastinum angiosarcoma | MONDO:0003034 | DOID:4525 +BMGC_DS08886,BMG_DS034274,mediastinum ganglioneuroblastoma | UMLS ID:C1334653 | MONDO:0001096 | DOID:10661 +BMGC_DS08887,BMG_DS034275,UMLS ID:C1334655 | MONDO:0021067 | mediastinal germ cell tumor +BMGC_DS08888,BMG_DS034276,MONDO:0003255 | mediastinal granular cell myoblastoma | DOID:5046 | UMLS ID:C1334656 +BMGC_DS08889,BMG_DS034277,mediastinal gray zone lymphoma | UMLS ID:C1334657 | DOID:6867 | MONDO:0004020 +BMGC_DS08890,BMG_DS034279,UMLS ID:C1334660 | mediastinum leiomyosarcoma | DOID:5292 | MONDO:0003376 +BMGC_DS08891,BMG_DS034280,DOID:3926 | MONDO:0006578 | mediastinal lipomatosis | UMLS ID:C1334662 +BMGC_DS08892,BMG_DS034281,UMLS ID:C1334663 | mediastinum liposarcoma | DOID:5713 | MONDO:0003601 +BMGC_DS08893,BMG_DS034282,DOID:6868 | MONDO:0004021 | mediastinal malignant lymphoma | UMLS ID:C1334665 +BMGC_DS08894,BMG_DS034283,DOID:6484 | mediastinal melanocytic neurilemmoma | UMLS ID:C1334668 | MONDO:0003894 +BMGC_DS08895,BMG_DS034284,DOID:5560 | UMLS ID:C1334669 | mediastinal mesenchymal tumor | MONDO:0003512 +BMGC_DS08896,BMG_DS034285,DOID:4691 | mediastinal neural neoplasm | MONDO:0003098 | UMLS ID:C1334672 | malignant mediastinal neurogenic neoplasm +BMGC_DS08897,BMG_DS034286,MONDO:0001095 | DOID:10660 | UMLS ID:C1334673 | mediastinum neuroblastoma +BMGC_DS08898,BMG_DS034287,mediastinum neurofibroma | MONDO:0001426 | DOID:12064 | UMLS ID:C1334674 +BMGC_DS08899,BMG_DS034288,UMLS ID:C1334675 | DOID:6208 | mediastinal osteogenic sarcoma | MONDO:0003808 | mediastinal extraskeletal osteosarcoma +BMGC_DS08900,BMG_DS034289,mediastinum rhabdomyosarcoma | UMLS ID:C1334677 | MONDO:0002851 | DOID:4049 +BMGC_DS08901,BMG_DS034290,mediastinum sarcoma | MONDO:0002852 | DOID:4050 | UMLS ID:C1334678 +BMGC_DS08902,BMG_DS034291,mediastinal schwannoma | mediastinal neurilemmoma | DOID:6175 | UMLS ID:C1334679 | MONDO:0004398 +BMGC_DS08903,BMG_DS034292,mediastinum seminoma | UMLS ID:C1334680 | MONDO:0003826 | DOID:6249 +BMGC_DS08904,BMG_DS034293,UMLS ID:C1334681 | DOID:5488 | mediastinum synovial sarcoma | MONDO:0003467 +BMGC_DS08905,BMG_DS034294,DOID:5568 | UMLS ID:C1334682 | mediastinum teratoma | MONDO:0003518 +BMGC_DS08906,BMG_DS034296,MONDO:0004141 | melanomatosis | DOID:7206 | UMLS ID:C1334691 +BMGC_DS08907,BMG_DS034297,meningioma | UMLS ID:C1334698 | DOID:3565;DOID:0080843 | supratentorial meningioma +BMGC_DS08908,BMG_DS034298,DOID:3350 | mesenchymal cell neoplasm | MONDO:0002616 | UMLS ID:C1334699 +BMGC_DS08909,BMG_DS034299,DOID:3379 | MONDO:0002632 | metachronous osteosarcoma of the bone | UMLS ID:C1334704 +BMGC_DS08910,BMG_DS034300,DOID:5178 | MONDO:0003317 | metachronous kidney Wilms' tumor | UMLS ID:C1334705 +BMGC_DS08911,BMG_DS034301,MONDO:0006043 | breast metaplastic carcinoma | DOID:4680 | UMLS ID:C1334708 | metaplastic breast carcinoma +BMGC_DS08912,BMG_DS034302,DOID:7379 | metastatic carcinoma in the adrenal medulla | adrenal medulla carcinoma | UMLS ID:C1334717 | MONDO:0024868 +BMGC_DS08913,BMG_DS034303,UMLS ID:C1334749 | methotrexate-associated lymphoproliferative disorders | methotrexate-associated lymphoproliferation | DOID:5821 | MONDO:0019483 +BMGC_DS08914,BMG_DS034304,MONDO:0004534 | UMLS ID:C1334753 | DOID:8335 | microglandular adenosis of breast +BMGC_DS08915,BMG_DS034305,UMLS ID:C1334757 | DOID:4749 | MONDO:0003121 | middle cranial fossa meningioma +BMGC_DS08916,BMG_DS034306,middle ear adenocarcinoma | UMLS ID:C1334758 | DOID:4892 | MONDO:0003189 +BMGC_DS08917,BMG_DS034308,UMLS ID:C1334760 | middle ear carcinoma | MONDO:0003190 | DOID:4893 +BMGC_DS08918,BMG_DS034309,middle ear squamous cell carcinoma | UMLS ID:C1334762 | MONDO:0006303 | DOID:5526 +BMGC_DS08919,BMG_DS034313,mixed cell uveal melanoma | DOID:6522 | MONDO:0003910 | UMLS ID:C1334782 +BMGC_DS08920,BMG_DS034314,mixed hepatoblastoma | UMLS ID:C1334784 | DOID:5789 | MONDO:0003650 +BMGC_DS08921,BMG_DS034316,UMLS ID:C1334788 | lung mixed small cell and squamous cell carcinoma | DOID:7081 | MONDO:0004100 +BMGC_DS08922,BMG_DS034317,DOID:5495 | monophasic synovial sarcoma | MONDO:0005067 | UMLS ID:C1334801 +BMGC_DS08923,BMG_DS034318,UMLS ID:C1334807 | MONDO:0002707 | DOID:3610 | breast mucinous carcinoma +BMGC_DS08924,BMG_DS034319,mucinous gastric adenocarcinoma | UMLS ID:C1334809 | MONDO:0006309 | mucinous stomach adenocarcinoma | DOID:3716 +BMGC_DS08925,BMG_DS034321,MONDO:0003087 | UMLS ID:C1334813 | mucoepidermoid breast carcinoma | DOID:4679 | breast mucoepidermoid carcinoma +BMGC_DS08926,BMG_DS034322,thymus mucoepidermoid carcinoma | UMLS ID:C1334814 | thymic mucoepidermoid carcinoma | DOID:4678 | MONDO:0003086 +BMGC_DS08927,BMG_DS034323,MONDO:0019754 | UMLS ID:C1334815 | multicentric Castleman disease | DOID:0111152 +BMGC_DS08928,BMG_DS034324,multicentric papillary thyroid carcinoma | DOID:7086 | UMLS ID:C1334817 | MONDO:0004101 +BMGC_DS08929,BMG_DS034326,DOID:3360 | multifocal osteogenic sarcoma | MONDO:0002622 | UMLS ID:C1334820 +BMGC_DS08930,BMG_DS034327,DOID:7646 | MONDO:0004317 | UMLS ID:C1334825 | multiple spinal canal and spinal cord meningioma +BMGC_DS08931,BMG_DS034328,UMLS ID:C1334828 | multiple mucosal neuroma | DOID:5155 | MONDO:0003307 +BMGC_DS08932,BMG_DS034329,DOID:7054 | UMLS ID:C1334829 | MONDO:0004094 | multiple skull base meningioma +BMGC_DS08933,BMG_DS034330,UMLS ID:C1334920 | nasal cavity adenocarcinoma | MONDO:0003211 | DOID:4930 +BMGC_DS08934,BMG_DS034331,DOID:10813 | MONDO:0001130 | UMLS ID:C1334921 | nasal cavity lymphoma +BMGC_DS08935,BMG_DS034332,nasal cavity olfactory neuroblastoma | DOID:10812 | UMLS ID:C1334923 | MONDO:0001129 +BMGC_DS08936,BMG_DS034334,DOID:1542 | head and neck carcinoma | UMLS ID:C1334927 +BMGC_DS08937,BMG_DS034336,nerve plexus neoplasm | UMLS ID:C1334945 | MONDO:0003100 | DOID:4693 +BMGC_DS08938,BMG_DS034337,MONDO:0003103 | DOID:4698 | UMLS ID:C1334946 | nerve root neoplasm +BMGC_DS08939,BMG_DS034339,nervous system cancer | UMLS ID:C1334956 | DOID:3093 +BMGC_DS08940,BMG_DS034340,posterior pituitary gland neoplasm | MONDO:0003257 | UMLS ID:C1334957 | DOID:5048 +BMGC_DS08941,BMG_DS034341,DOID:6629 | UMLS ID:C1334966 | MONDO:0003950 | nipple carcinoma +BMGC_DS08942,BMG_DS034342,MONDO:0004409 | UMLS ID:C1334967 | DOID:7953 | nipple duct carcinoma +BMGC_DS08943,BMG_DS034345,UMLS ID:C1334970 | medulloblastoma with extensive nodularity | MONDO:0016710 | DOID:3873 | desmoplastic/nodular medulloblastoma +BMGC_DS08944,BMG_DS034347,non-functioning pancreatic endocrine tumor | non-functional pancreatic neuroendocrine tumor | MONDO:0004334 | DOID:7698 | UMLS ID:C1334977 +BMGC_DS08945,BMG_DS034348,penis non-invasive verrucous carcinoma | MONDO:0003697 | UMLS ID:C1334984 | DOID:5907 | non-invasive verrucous carcinoma of the penis +BMGC_DS08946,BMG_DS034349,DOID:574 | peripheral nervous system disease | UMLS ID:C1335029 +BMGC_DS08947,BMG_DS034350,reproductive system disease | DOID:15 | UMLS ID:C1335037 +BMGC_DS08948,BMG_DS034351,DOID:18 | UMLS ID:C1335051 | urinary system disease +BMGC_DS08949,BMG_DS034353,UMLS ID:C1335060 | lung adenocarcinoma | DOID:3910 +BMGC_DS08950,BMG_DS034354,UMLS ID:C1335061 | DOID:4560 | non specific chronic endometritis | MONDO:0003051 +BMGC_DS08951,BMG_DS034355,UMLS ID:C1335062 | renal Wilms' tumor | MONDO:0003316 | nonanaplastic kidney Wilms tumor | DOID:5176 +BMGC_DS08952,BMG_DS034356,non-ossifying fibromyxoid tumor | UMLS ID:C1335063 | DOID:8305 | MONDO:0004529 | nonossifying fibromyxoid tumor +BMGC_DS08953,BMG_DS034357,UMLS ID:C1335069 | notochordal cancer | notochordal tumor | DOID:3303 | MONDO:0002597 +BMGC_DS08954,BMG_DS034358,MONDO:0004128 | DOID:7169 | UMLS ID:C1335095 | lung occult large cell carcinoma +BMGC_DS08955,BMG_DS034359,lung occult adenocarcinoma | MONDO:0004127 | DOID:7168 | UMLS ID:C1335096 +BMGC_DS08956,BMG_DS034360,MONDO:0003437 | lung occult small cell carcinoma | occult small cell lung carcinoma | UMLS ID:C1335099 | DOID:5414 +BMGC_DS08957,BMG_DS034361,lung occult squamous cell carcinoma | MONDO:0003904 | DOID:6510 | UMLS ID:C1335100 +BMGC_DS08958,BMG_DS034362,UMLS ID:C1335107 | MONDO:0004446 | DOID:8057 | olfactory groove meningioma +BMGC_DS08959,BMG_DS034364,MONDO:0003234 | DOID:4991 | UMLS ID:C1335114 | optic nerve astrocytoma +BMGC_DS08960,BMG_DS034365,DOID:4384 | orbit alveolar rhabdomyosarcoma | UMLS ID:C1335126 | MONDO:0002978 +BMGC_DS08961,BMG_DS034366,DOID:3258 | UMLS ID:C1335127 | MONDO:0002579 | orbit embryonal rhabdomyosarcoma +BMGC_DS08962,BMG_DS034367,UMLS ID:C1335128 | hemangioma of orbit | DOID:14459 | MONDO:0001974 +BMGC_DS08963,BMG_DS034368,MONDO:0004943 | orbit sarcoma | DOID:9987 | UMLS ID:C1335131 +BMGC_DS08964,BMG_DS034371,breast osteosarcoma | UMLS ID:C1335149 | MONDO:0004360 | DOID:7787 | breast extraskeletal osteosarcoma +BMGC_DS08965,BMG_DS034373,UMLS ID:C1335152 | MONDO:0003035 | ovarian angiosarcoma | DOID:4527 +BMGC_DS08966,BMG_DS034374,MONDO:0003281 | DOID:5118 | ovarian cystic teratoma | UMLS ID:C1335155 +BMGC_DS08967,BMG_DS034376,DOID:6212 | ovarian endometrial cancer | UMLS ID:C1335159 +BMGC_DS08968,BMG_DS034377,ovary leiomyosarcoma | MONDO:0003355 | UMLS ID:C1335163 | DOID:5263 +BMGC_DS08969,BMG_DS034378,liposarcoma of the ovary | UMLS ID:C1335165 | MONDO:0003589 | DOID:5697 +BMGC_DS08970,BMG_DS034379,DOID:3606 | MONDO:0005601 | UMLS ID:C1335167 | ovarian mucinous adenocarcinoma +BMGC_DS08971,BMG_DS034380,MONDO:0003756 | ovarian mucinous neoplasm | DOID:6067 | UMLS ID:C1335168 +BMGC_DS08972,BMG_DS034381,UMLS ID:C1335169 | ovarian mesodermal adenosarcoma | ovarian adenosarcoma | DOID:4115 | MONDO:0002880 +BMGC_DS08973,BMG_DS034382,ovarian myxoid liposarcoma | DOID:8023 | UMLS ID:C1335170 | MONDO:0004436 | myxoid liposarcoma of the ovary +BMGC_DS08974,BMG_DS034383,ovary neuroendocrine neoplasm | UMLS ID:C1335172 | MONDO:0002481 | DOID:3002 | ovarian neuroendocrine neoplasm +BMGC_DS08975,BMG_DS034384,DOID:4555 | ovarian large-cell neuroendocrine carcinoma | UMLS ID:C1335174 | MONDO:0003049 +BMGC_DS08976,BMG_DS034385,DOID:6405 | UMLS ID:C1335175 | MONDO:0003872 | ovarian papillary cystadenoma +BMGC_DS08977,BMG_DS034386,ovary rhabdomyosarcoma | UMLS ID:C1335176 | MONDO:0002858 | DOID:4059 +BMGC_DS08978,BMG_DS034387,DOID:5744 | MONDO:0005211 | UMLS ID:C1335177 | ovarian serous adenocarcinoma | ovary serous adenocarcinoma +BMGC_DS08979,BMG_DS034388,UMLS ID:C1335178 | MONDO:0003874 | ovary papillary carcinoma | DOID:6408 | ovarian serous surface papillary adenocarcinoma +BMGC_DS08980,BMG_DS034389,UMLS ID:C1335181 | MONDO:0003852 | DOID:6315 | ovarian solid teratoma +BMGC_DS08981,BMG_DS034390,ovarian surface papilloma | DOID:6407 | MONDO:0003873 | UMLS ID:C1335183 +BMGC_DS08982,BMG_DS034391,ovary transitional cell carcinoma | ovarian transitional cell carcinoma | MONDO:0006343 | UMLS ID:C1335184 | DOID:4000 +BMGC_DS08983,BMG_DS034393,pancreatic adenosquamous carcinoma | MONDO:0005614 | DOID:5637 | UMLS ID:C1335299 +BMGC_DS08984,BMG_DS034394,pancreatic ACTH-producing neuroendocrine tumor | pancreatic ACTH hormone producing tumor | UMLS ID:C1335300 | MONDO:0004333 | DOID:7697 +BMGC_DS08985,BMG_DS034395,UMLS ID:C1335301 | MONDO:0002994 | pancreatic delta cell neuroendocrine tumor | DOID:4433 | pancreatic delta cell neoplasm +BMGC_DS08986,BMG_DS034396,MONDO:0005184 | UMLS ID:C1335302 | pancreatic ductal adenocarcinoma | DOID:3498 +BMGC_DS08987,BMG_DS034397,MONDO:0004287 | pancreatic foamy gland adenocarcinoma | UMLS ID:C1335303 | DOID:7577 +BMGC_DS08988,BMG_DS034398,DOID:7574 | pancreatic intraductal papillary-colloid carcinoma | pancreatic intraductal papillary-mucinous carcinoma | UMLS ID:C1335304 | MONDO:0004285 +BMGC_DS08989,BMG_DS034399,DOID:1792 | MONDO:0002114 | UMLS ID:C1335307 | pancreas lymphoma +BMGC_DS08990,BMG_DS034400,DOID:7735 | pancreatic mucinous cystadenoma | MONDO:0018523 | pancreatic colloid cystadenoma | UMLS ID:C1335309 +BMGC_DS08991,BMG_DS034401,DOID:13313 | UMLS ID:C1335310 | MONDO:0001683 | pancreatic mucinous ductal ectasia +BMGC_DS08992,BMG_DS034402,MONDO:0004377 | DOID:7840 | pancreatic non-functioning delta cell tumor | UMLS ID:C1335311 +BMGC_DS08993,BMG_DS034403,pancreatic serous cystadenocarcinoma | DOID:5751 | UMLS ID:C1335315 | MONDO:0003630 +BMGC_DS08994,BMG_DS034404,DOID:3917 | MONDO:0002808 | pancreatic serous cystadenoma | UMLS ID:C1335316 +BMGC_DS08995,BMG_DS034405,pancreatic signet ring cell adenocarcinoma | MONDO:0002666 | UMLS ID:C1335317 | DOID:3497 +BMGC_DS08996,BMG_DS034406,DOID:8013 | papillary carcinoma of the penis | MONDO:0004433 | penis papillary carcinoma | UMLS ID:C1335322 +BMGC_DS08997,BMG_DS034408,papillary lung adenocarcinoma | UMLS ID:C1335325 | DOID:5588 | MONDO:0006049 | lung papillary adenocarcinoma +BMGC_DS08998,BMG_DS034409,MONDO:0003534 | UMLS ID:C1335327 | papillary thymic adenocarcinoma | DOID:5595 +BMGC_DS08999,BMG_DS034411,UMLS ID:C1335329 | DOID:5433 | MONDO:0003443 | urinary tract papillary transitional cell benign neoplasm | papillary urothelial neoplasm +BMGC_DS09000,BMG_DS034412,paranasal sinus cancer | UMLS ID:C1335336 | DOID:0050619 +BMGC_DS09001,BMG_DS034413,UMLS ID:C1335337 | paranasal sinus adenoid cystic carcinoma | paranasal sinus cancer | MONDO:0006352 | DOID:0050619 +BMGC_DS09002,BMG_DS034414,UMLS ID:C1335339 | DOID:1355 | MONDO:0001743 | paranasal sinus lymphoma +BMGC_DS09003,BMG_DS034415,paranasal sinus mucoepidermoid carcinoma | MONDO:0044956 | UMLS ID:C1335340 | paranasal sinus cancer | DOID:0050619 +BMGC_DS09004,BMG_DS034416,DOID:1362 | UMLS ID:C1335342 | MONDO:0001758 | paranasal sinus sarcoma +BMGC_DS09005,BMG_DS034418,DOID:10207 | MONDO:0000976 | paratesticular lipoma | UMLS ID:C1335348 +BMGC_DS09006,BMG_DS034420,MONDO:0004305 | UMLS ID:C1335351 | parathyroid oncocytic adenoma | DOID:7611 +BMGC_DS09007,BMG_DS034421,Skene gland carcinoma | DOID:7284 | UMLS ID:C1335352 +BMGC_DS09008,BMG_DS034427,Kaposi's sarcoma | UMLS ID:C1335372 | DOID:8632 +BMGC_DS09009,BMG_DS034428,periampullary adenocarcinoma | UMLS ID:C1335377 | MONDO:0004465 | DOID:8110 +BMGC_DS09010,BMG_DS034430,pericardial mesothelioma | UMLS ID:C1335381 | DOID:6201 | MONDO:0003805 | malignant pericardial mesothelioma +BMGC_DS09011,BMG_DS034432,periocular meningioma | MONDO:0004439 | DOID:8030 | UMLS ID:C1335383 +BMGC_DS09012,BMG_DS034433,UMLS ID:C1335387 | DOID:5195 | peripheral ganglioneuroblastoma | MONDO:0003327 | peripheral nervous system ganglioneuroblastoma +BMGC_DS09013,BMG_DS034434,DOID:8225 | microscopic breast papilloma | MONDO:0004506 | UMLS ID:C1335390 +BMGC_DS09014,BMG_DS034435,perivascular tumor | pericytic neoplasm | UMLS ID:C1335392 | DOID:3316 | MONDO:0002604 +BMGC_DS09015,BMG_DS034436,DOID:7818 | UMLS ID:C1335395 | petroclival meningioma | MONDO:0004367 +BMGC_DS09016,BMG_DS034437,UMLS ID:C1335396 | DOID:7482 | MONDO:0004238 | petrous apex meningioma +BMGC_DS09017,BMG_DS034442,pineal region choriocarcinoma | DOID:5553 | MONDO:0003509 | UMLS ID:C1335414 +BMGC_DS09018,BMG_DS034443,UMLS ID:C1335415 | DOID:5510 | pineal region dysgerminoma | MONDO:0003480 | pineal dysgerminoma +BMGC_DS09019,BMG_DS034444,UMLS ID:C1335416 | MONDO:0004017 | pineal region immature teratoma | DOID:6858 +BMGC_DS09020,BMG_DS034445,pineal region mature teratoma | DOID:6857 | MONDO:0004016 | UMLS ID:C1335417 +BMGC_DS09021,BMG_DS034446,DOID:8031 | MONDO:0004440 | UMLS ID:C1335418 | pineal region meningioma +BMGC_DS09022,BMG_DS034447,MONDO:0004015 | pineal region teratoma | DOID:6856 | UMLS ID:C1335419 +BMGC_DS09023,BMG_DS034448,pineal region yolk sac tumor | DOID:5341 | UMLS ID:C1335420 | MONDO:0003399 +BMGC_DS09024,BMG_DS034449,MONDO:0004447 | pituitary stalk meningioma | DOID:8058 | UMLS ID:C1335422 +BMGC_DS09025,BMG_DS034450,UMLS ID:C1335423 | placenta disease | DOID:780 +BMGC_DS09026,BMG_DS034452,MONDO:0003926 | UMLS ID:C1335435 | DOID:6564 | neurilemmoma of the pleura +BMGC_DS09027,BMG_DS034453,UMLS ID:C1335437 | plexopathy | DOID:3688 +BMGC_DS09028,BMG_DS034454,posterior foramen magnum meningioma | MONDO:0003921 | DOID:6553 | UMLS ID:C1335449 +BMGC_DS09029,BMG_DS034455,UMLS ID:C1335469 | MONDO:0003538 | DOID:9952 | precursor lymphoblastic lymphoma/leukemia | acute lymphoblastic leukemia +BMGC_DS09030,BMG_DS034457,UMLS ID:C1335473 | chondrosarcoma | DOID:3371 +BMGC_DS09031,BMG_DS034459,skin meningioma | MONDO:0024663 | primary skin meningioma | UMLS ID:C1335481 | DOID:8006 +BMGC_DS09032,BMG_DS034461,UMLS ID:C1335488 | DOID:5764 | lung meningioma +BMGC_DS09033,BMG_DS034462,DOID:4868 | UMLS ID:C1335502 | prostate adenoid cystic carcinoma | MONDO:0003177 +BMGC_DS09034,BMG_DS034463,adenosquamous prostate carcinoma | MONDO:0003558 | UMLS ID:C1335503 | DOID:5634 +BMGC_DS09035,BMG_DS034464,MONDO:0003033 | prostate angiosarcoma | UMLS ID:C1335504 | DOID:4524 +BMGC_DS09036,BMG_DS034465,DOID:3251 | prostate embryonal rhabdomyosarcoma | MONDO:0002574 | UMLS ID:C1335508 +BMGC_DS09037,BMG_DS034466,UMLS ID:C1335509 | Kaposi's sarcoma | DOID:8632 +BMGC_DS09038,BMG_DS034468,MONDO:0003368 | prostate leiomyosarcoma | DOID:5282 | UMLS ID:C1335511 +BMGC_DS09039,BMG_DS034469,UMLS ID:C1335512 | DOID:10290 | MONDO:0000996 | prostate lymphoma +BMGC_DS09040,BMG_DS034470,DOID:3703 | acinar prostate mucinous adenocarcinoma | MONDO:0006067 | prostate colloid adenocarcinoma | UMLS ID:C1335513 +BMGC_DS09041,BMG_DS034471,MONDO:0002477 | prostate neuroendocrine neoplasm | UMLS ID:C1335515 | DOID:2992 +BMGC_DS09042,BMG_DS034472,prostate rhabdomyosarcoma | MONDO:0006389 | UMLS ID:C1335518 | DOID:3252 +BMGC_DS09043,BMG_DS034473,prostate signet ring cell adenocarcinoma | UMLS ID:C1335520 | DOID:3504 +BMGC_DS09044,BMG_DS034474,prostate stromal sarcoma | UMLS ID:C1335521 | MONDO:0004124 | DOID:7152 +BMGC_DS09045,BMG_DS034475,central epithelioid sarcoma | DOID:7492 | UMLS ID:C1335563 | MONDO:0004244 | proximal-type epithelioid sarcoma +BMGC_DS09046,BMG_DS034477,DOID:7389 | pulmonary artery leiomyosarcoma | MONDO:0004207 | UMLS ID:C1335572 +BMGC_DS09047,BMG_DS034478,pulmonary sulcus neoplasm | UMLS ID:C1335574 | Pancoast tumor | MONDO:0024813 | DOID:8007 +BMGC_DS09048,BMG_DS034479,MONDO:0004206 | pulmonary vein leiomyosarcoma | UMLS ID:C1335575 | DOID:7388 +BMGC_DS09049,BMG_DS034480,reactive cutaneous fibrous lesion | UMLS ID:C1335666 | MONDO:0006603 | DOID:2053 +BMGC_DS09050,BMG_DS034483,MONDO:0003796 | rectum Kaposi's sarcoma | UMLS ID:C1335681 | DOID:6190 | rectum Kaposi sarcoma +BMGC_DS09051,BMG_DS034484,rectal leiomyoma | DOID:7160 | rectum leiomyoma | UMLS ID:C1335682 | MONDO:0004125 +BMGC_DS09052,BMG_DS034485,DOID:5297 | rectum leiomyosarcoma | UMLS ID:C1335683 | MONDO:0003379 +BMGC_DS09053,BMG_DS034486,lipoma of the rectum | MONDO:0003884 | rectal lipoma | UMLS ID:C1335684 | DOID:6459 +BMGC_DS09054,BMG_DS034487,UMLS ID:C1335685 | rectum lymphoma | MONDO:0002166 | DOID:1988 +BMGC_DS09055,BMG_DS034488,UMLS ID:C1335686 | DOID:5777 | rectum neuroendocrine neoplasm +BMGC_DS09056,BMG_DS034489,DOID:4053 | UMLS ID:C1335687 | rectum rhabdomyosarcoma | MONDO:0002853 +BMGC_DS09057,BMG_DS034490,UMLS ID:C1335688 | DOID:1995 | MONDO:0002168 | rectum sarcoma +BMGC_DS09058,BMG_DS034491,rectum sarcomatoid carcinoma | UMLS ID:C1335689 | DOID:7356 | rectal sarcomatoid carcinoma | MONDO:0004196 +BMGC_DS09059,BMG_DS034492,UMLS ID:C1335690 | squamous cell carcinoma of rectum | rectum squamous cell carcinoma | DOID:5528 | MONDO:0018515 +BMGC_DS09060,BMG_DS034494,DOID:712 | UMLS ID:C1335724 | refractory hematologic cancer | MONDO:0004111 +BMGC_DS09061,BMG_DS034495,UMLS ID:C1335743 | kidney leiomyosarcoma | MONDO:0003373 | DOID:5287 +BMGC_DS09062,BMG_DS034496,UMLS ID:C1335744 | kidney lipoma | MONDO:0000968 | DOID:10194 +BMGC_DS09063,BMG_DS034497,DOID:5699 | UMLS ID:C1335745 | kidney liposarcoma | MONDO:0003591 +BMGC_DS09064,BMG_DS034498,DOID:5983 | UMLS ID:C1335747 | kidney osteogenic sarcoma | MONDO:0003721 +BMGC_DS09065,BMG_DS034499,UMLS ID:C1335748 | renal pelvis adenocarcinoma | MONDO:0003205 | DOID:4918 +BMGC_DS09066,BMG_DS034500,MONDO:0005519 | UMLS ID:C1335749 | renal pelvis carcinoma | DOID:4919 +BMGC_DS09067,BMG_DS034501,MONDO:0003776 | DOID:6118 | UMLS ID:C1335751 | renal pelvis inverted papilloma +BMGC_DS09068,BMG_DS034502,DOID:6844 | UMLS ID:C1335752 | kidney pelvis sarcomatoid transitional cell carcinoma | MONDO:0004009 +BMGC_DS09069,BMG_DS034503,DOID:175 | UMLS ID:C1335753 | vascular cancer +BMGC_DS09070,BMG_DS034504,UMLS ID:C1335765 | DOID:771 | retinal cell cancer | MONDO:0024341 | retinal cell neoplasm +BMGC_DS09071,BMG_DS034505,DOID:5874 | UMLS ID:C1335776 | MONDO:0003685 | retroperitoneal germ cell neoplasm +BMGC_DS09072,BMG_DS034506,retroperitoneal hemangiopericytoma | UMLS ID:C1335777 | DOID:5373 | MONDO:0003412 +BMGC_DS09073,BMG_DS034507,MONDO:0001499 | UMLS ID:C1335779 | retroperitoneal lymphoma | DOID:12339 +BMGC_DS09074,BMG_DS034508,MONDO:0004498 | UMLS ID:C1335893 | DOID:8203 | sacral spinal canal and spinal cord meningioma +BMGC_DS09075,BMG_DS034512,UMLS ID:C1335923 | MONDO:0004410 | sarcomatoid penile squamous cell carcinoma | DOID:7958 +BMGC_DS09076,BMG_DS034513,DOID:8138 | MONDO:0006452 | thymic sarcomatoid carcinoma | thymus sarcomatoid carcinoma | UMLS ID:C1335924 +BMGC_DS09077,BMG_DS034514,DOID:3197 | MONDO:0002549 | UMLS ID:C1335928 | schwannoma of twelfth cranial nerve +BMGC_DS09078,BMG_DS034515,MONDO:0008075 | UMLS ID:C1335929 | DOID:3204 | schwannomatosis +BMGC_DS09079,BMG_DS034516,DOID:8310 | UMLS ID:C1335931 | sclerosing adenosis of breast | MONDO:0004531 +BMGC_DS09080,BMG_DS034517,sclerosing breast papilloma | UMLS ID:C1335932 | DOID:7984 | MONDO:0004421 +BMGC_DS09081,BMG_DS034518,DOID:4278 | scrotum basal cell carcinoma | UMLS ID:C1335934 | MONDO:0002936 +BMGC_DS09082,BMG_DS034519,UMLS ID:C1335936 | MONDO:0003951 | scrotal angioma | scrotal hemangioma | DOID:663 +BMGC_DS09083,BMG_DS034520,MONDO:0003739 | UMLS ID:C1335942 | selective immunoglobulin deficiency disease | DOID:6025 +BMGC_DS09084,BMG_DS034522,MONDO:0002671 | signet ring cell breast carcinoma | UMLS ID:C1335964 | breast signet ring cell adenocarcinoma | DOID:3503 +BMGC_DS09085,BMG_DS034523,gastric signet ring cell adenocarcinoma | UMLS ID:C1335965 | MONDO:0006409 | DOID:8025 | signet ring cell gastric adenocarcinoma +BMGC_DS09086,BMG_DS034524,UMLS ID:C1335971 | skeletal muscle neoplasm | DOID:4044 | MONDO:0002848 +BMGC_DS09087,BMG_DS034525,UMLS ID:C1335973 | skin basaloid carcinoma | MONDO:0004091 | DOID:7049 | basaloid squamous cell skin carcinoma +BMGC_DS09088,BMG_DS034526,UMLS ID:C1335974 | pseudovascular skin squamous cell carcinoma | MONDO:0004469 | DOID:8122 +BMGC_DS09089,BMG_DS034527,DOID:4151 | skull base chordoma | MONDO:0002892 | UMLS ID:C1335975 +BMGC_DS09090,BMG_DS034528,DOID:4437 | skull base meningioma | MONDO:0002998 | UMLS ID:C1335976 +BMGC_DS09091,BMG_DS034529,extrahepatic bile duct small cell adenocarcinoma | DOID:5926 | MONDO:0003708 | UMLS ID:C1335979 +BMGC_DS09092,BMG_DS034530,DOID:7142 | MONDO:0004122 | UMLS ID:C1335980 | thymus small cell carcinoma +BMGC_DS09093,BMG_DS034534,UMLS ID:C1335994 | small bowel fibrosarcoma | small intestinal fibrosarcoma | DOID:6880 | MONDO:0004028 +BMGC_DS09094,BMG_DS034537,MONDO:0018510 | UMLS ID:C1336005 | DOID:4434 | small intestine neuroendocrine neoplasm +BMGC_DS09095,BMG_DS034538,UMLS ID:C1336007 | small intestinal sarcoma | DOID:5272 | MONDO:0003361 +BMGC_DS09096,BMG_DS034539,small intestinal vasoactive intestinal peptide producing tumor | DOID:5740 | MONDO:0003621 | UMLS ID:C1336009 +BMGC_DS09097,BMG_DS034540,DOID:3355 | UMLS ID:C1336021 | fibrosarcoma +BMGC_DS09098,BMG_DS034541,solid papillary breast carcinoma | breast papillary carcinoma | MONDO:0044783 | DOID:5592 | UMLS ID:C1336027 +BMGC_DS09099,BMG_DS034542,DOID:6827 | pancreatic solid pseudopapillary carcinoma | MONDO:0018525 | UMLS ID:C1336029 | solid pseudopapillary carcinoma of pancreas +BMGC_DS09100,BMG_DS034544,sphenocavernous meningioma | MONDO:0004370 | DOID:7820 | UMLS ID:C1336036 +BMGC_DS09101,BMG_DS034545,UMLS ID:C1336037 | MONDO:0004326 | DOID:7678 | sphenoid sinus inverted papilloma +BMGC_DS09102,BMG_DS034546,sphenoid sinus Schneiderian papilloma | DOID:7679 | MONDO:0004327 | UMLS ID:C1336038 +BMGC_DS09103,BMG_DS034547,MONDO:0001995 | sphenoid sinus squamous cell carcinoma | UMLS ID:C1336039 | DOID:14547 +BMGC_DS09104,BMG_DS034548,DOID:7819 | MONDO:0004368 | UMLS ID:C1336040 | sphenoorbital meningioma +BMGC_DS09105,BMG_DS034549,MONDO:0001892 | spinal cord lymphoma | DOID:14150 | UMLS ID:C1336044 +BMGC_DS09106,BMG_DS034550,UMLS ID:C1336045 | MONDO:0001893 | spinal cord melanoma | DOID:14151 +BMGC_DS09107,BMG_DS034551,MONDO:0004024 | UMLS ID:C1336046 | spinal cord neuroblastoma | DOID:6871 +BMGC_DS09108,BMG_DS034552,neurofibroma of spinal cord | UMLS ID:C1336047 | MONDO:0001789 | DOID:13742 +BMGC_DS09109,BMG_DS034553,UMLS ID:C1336048 | DOID:6872 | spinal cord primitive neuroectodermal tumor | MONDO:0006426 | spinal cord primitive neuroectodermal neoplasm +BMGC_DS09110,BMG_DS034554,UMLS ID:C1336049 | MONDO:0001894 | spinal cord sarcoma | DOID:14152 +BMGC_DS09111,BMG_DS034555,spinal multifocal clear cell meningioma | DOID:7824 | UMLS ID:C1336051 | MONDO:0004371 +BMGC_DS09112,BMG_DS034557,DOID:709 | UMLS ID:C1336064 | MONDO:0004104 | splenic manifestation of hairy cell leukemia +BMGC_DS09113,BMG_DS034558,splenic manifestation of leukemia | UMLS ID:C1336065 | DOID:710 | MONDO:0004107 +BMGC_DS09114,BMG_DS034559,DOID:4334 | MONDO:0002966 | UMLS ID:C1336066 | splenic manifestation of prolymphocytic leukemia +BMGC_DS09115,BMG_DS034560,MONDO:0004438 | UMLS ID:C1336076 | DOID:8029 | sporadic breast cancer +BMGC_DS09116,BMG_DS034561,DOID:4465 | papillary renal cell carcinoma | UMLS ID:C1336078 +BMGC_DS09117,BMG_DS034562,MONDO:0006056 | breast squamous cell carcinoma | squamous cell breast carcinoma | UMLS ID:C1336079 | DOID:5514 +BMGC_DS09118,BMG_DS034563,penis squamous cell carcinoma | DOID:5518 | UMLS ID:C1336081 +BMGC_DS09119,BMG_DS034564,DOID:5530 | thymus squamous cell carcinoma | MONDO:0003493 | UMLS ID:C1336082 +BMGC_DS09120,BMG_DS034566,intratubular embryonal carcinoma | DOID:8275 | UMLS ID:C1336096 +BMGC_DS09121,BMG_DS034567,UMLS ID:C1336362 | MONDO:0004182 | Jewett-Marshall bladder cancer | stage IVb bladder cancer | DOID:7315 +BMGC_DS09122,BMG_DS034568,UMLS ID:C1336504 | DOID:6762 | MONDO:0003988 | sternum lymphoma +BMGC_DS09123,BMG_DS034569,UMLS ID:C1336506 | DOID:3925 | MONDO:0006612 | steroid lipomatosis +BMGC_DS09124,BMG_DS034574,DOID:7371 | MONDO:0004200 | UMLS ID:C1336527 | superficial urinary bladder cancer | superficial urinary bladder carcinoma +BMGC_DS09125,BMG_DS034575,lung superior sulcus carcinoma | DOID:8208 | UMLS ID:C1336529 | MONDO:0004500 +BMGC_DS09126,BMG_DS034576,DOID:4522 | UMLS ID:C1336530 | superior vena cava angiosarcoma | MONDO:0003032 +BMGC_DS09127,BMG_DS034577,UMLS ID:C1336531 | superior vena cava leiomyosarcoma | DOID:7390 | MONDO:0004208 +BMGC_DS09128,BMG_DS034578,UMLS ID:C1336535 | MONDO:0004312 | DOID:7634 | suprasellar meningioma +BMGC_DS09129,BMG_DS034580,UMLS ID:C1336538 | supratentorial primitive neuroectodermal tumor | MONDO:0003145 | DOID:4791 +BMGC_DS09130,BMG_DS034581,DOID:3201 | sympathetic neurilemmoma | UMLS ID:C1336543 | MONDO:0002554 +BMGC_DS09131,BMG_DS034582,DOID:6696 | UMLS ID:C1336544 | MONDO:0003967 | synchronous multifocal osteogenic sarcoma +BMGC_DS09132,BMG_DS034583,MONDO:0004519 | synovial angioma | UMLS ID:C1336546 | DOID:8274 +BMGC_DS09133,BMG_DS034585,MONDO:0004103 | DOID:7089 | tall cell papillary thyroid carcinoma | UMLS ID:C1336695 | tall cell variant thyroid gland papillary carcinoma +BMGC_DS09134,BMG_DS034586,UMLS ID:C1336699 | DOID:6048 | MONDO:0003747 | telangiectatic glomangioma +BMGC_DS09135,BMG_DS034587,MONDO:0004076 | DOID:7016 | tendon sheath lipoma | UMLS ID:C1336703 +BMGC_DS09136,BMG_DS034588,MONDO:0010108 | testicular germ cell cancer | DOID:5557 | OMIM ID:273300 | UMLS ID:C1336708 | testicular germ cell tumor +BMGC_DS09137,BMG_DS034589,testicular granulosa cell tumor | MONDO:0003395 | UMLS ID:C1336709 | DOID:5331 +BMGC_DS09138,BMG_DS034590,UMLS ID:C1336711 | MONDO:0001482 | testicular leukemia | DOID:12286 +BMGC_DS09139,BMG_DS034591,mixed testicular germ cell cancer | DOID:4743 | mixed testicular germ cell tumor | UMLS ID:C1336720 | MONDO:0003120 +BMGC_DS09140,BMG_DS034592,testis rhabdomyosarcoma | MONDO:0002860 | DOID:4061 | UMLS ID:C1336726 +BMGC_DS09141,BMG_DS034593,DOID:4062 | testis sarcoma | MONDO:0002861 | UMLS ID:C1336727 +BMGC_DS09142,BMG_DS034594,UMLS ID:C1336733 | DOID:6098 | thalamic neoplasm +BMGC_DS09143,BMG_DS034595,UMLS ID:C1336738 | MONDO:0003770 | thoracic spinal canal and spinal cord meningioma | DOID:6103 +BMGC_DS09144,BMG_DS034596,DOID:4923 | thymus adenocarcinoma | thymus gland adenocarcinoma | UMLS ID:C1336743 | MONDO:0003209 +BMGC_DS09145,BMG_DS034598,DOID:10146 | thymus lymphoma | MONDO:0000951 | UMLS ID:C1336745 +BMGC_DS09146,BMG_DS034599,UMLS ID:C1336748 | thyroid gland angiosarcoma | thyroid angiosarcoma | DOID:4514 | MONDO:0003027 +BMGC_DS09147,BMG_DS034601,thyroid Hurthle cell adenoma | MONDO:0004483 | UMLS ID:C1336750 | DOID:8162 | thyroid gland oncocytic adenoma +BMGC_DS09148,BMG_DS034602,DOID:6203 | thyroid hyalinizing trabecular adenoma | MONDO:0003806 | UMLS ID:C1336751 +BMGC_DS09149,BMG_DS034603,DOID:10011 | thyroid lymphoma | MONDO:0019962 | UMLS ID:C1336753 +BMGC_DS09150,BMG_DS034605,DOID:4515 | MONDO:0003028 | thyroid sarcoma | UMLS ID:C1336756 +BMGC_DS09151,BMG_DS034609,MONDO:0001417 | tracheal lymphoma | DOID:12001 | UMLS ID:C1336773 +BMGC_DS09152,BMG_DS034610,trachea sarcoma | MONDO:0001418 | DOID:12002 | UMLS ID:C1336774 +BMGC_DS09153,BMG_DS034611,DOID:7713 | MONDO:0004339 | UMLS ID:C1336829 | tuberculum sellae meningioma +BMGC_DS09154,BMG_DS034615,upper clivus meningioma | UMLS ID:C1336871 | MONDO:0004503 | DOID:8221 +BMGC_DS09155,BMG_DS034616,ureter adenocarcinoma | UMLS ID:C1336873 | DOID:4938 | MONDO:0003216 +BMGC_DS09156,BMG_DS034617,MONDO:0004043 | DOID:6935 | ureter inverted papilloma | UMLS ID:C1336874 +BMGC_DS09157,BMG_DS034618,ureter leiomyoma | MONDO:0001399 | UMLS ID:C1336875 | DOID:11887 +BMGC_DS09158,BMG_DS034619,UMLS ID:C1336876 | DOID:14489 | MONDO:0001977 | ureteral lymphoma +BMGC_DS09159,BMG_DS034620,DOID:11888 | schwannoma of ureter | UMLS ID:C1336877 | MONDO:0001400 +BMGC_DS09160,BMG_DS034621,ureter small cell carcinoma | UMLS ID:C1336878 | MONDO:0006482 | DOID:6886 +BMGC_DS09161,BMG_DS034622,MONDO:0003502 | DOID:5539 | UMLS ID:C1336879 | ureter squamous cell carcinoma +BMGC_DS09162,BMG_DS034623,fibroepithelial polyp of urethra | MONDO:0006550 | DOID:8108 | UMLS ID:C1336884 +BMGC_DS09163,BMG_DS034624,urethra adenocarcinoma | DOID:4910 | UMLS ID:C1336885 | MONDO:0003200 +BMGC_DS09164,BMG_DS034625,UMLS ID:C1336886 | urethra clear cell adenocarcinoma | MONDO:0003387 | DOID:5307 +BMGC_DS09165,BMG_DS034626,DOID:6934 | MONDO:0004042 | urethra inverted papilloma | UMLS ID:C1336887 +BMGC_DS09166,BMG_DS034627,urethra leiomyoma | MONDO:0002222 | DOID:2142 | UMLS ID:C1336888 +BMGC_DS09167,BMG_DS034628,nephrogenic adenoma of the urethra | MONDO:0004464 | UMLS ID:C1336889 | DOID:8109 +BMGC_DS09168,BMG_DS034629,UMLS ID:C1336890 | urethra squamous cell carcinoma | MONDO:0002764 | DOID:3750 +BMGC_DS09169,BMG_DS034637,adenomyoma of uterine corpus | DOID:4994 | MONDO:0003237 | UMLS ID:C1336903 +BMGC_DS09170,BMG_DS034638,DOID:8188 | UMLS ID:C1336904 | uterine corpus choriocarcinoma | MONDO:0004491 +BMGC_DS09171,BMG_DS034639,DOID:2870 | endometrial adenocarcinoma | endometrial endometrioid adenocarcinoma | MONDO:0006192 | UMLS ID:C1336905 +BMGC_DS09172,BMG_DS034640,UMLS ID:C1336913 | MONDO:0004220 | sarcomatoid uterine corpus endometrioid adenocarcinoma | endometrial endometrioid adenocarcinoma with spindled epithelial cells | DOID:7436 +BMGC_DS09173,BMG_DS034641,DOID:4113 | MONDO:0002878 | uterine corpus adenosarcoma | UMLS ID:C1336917 +BMGC_DS09174,BMG_DS034643,MONDO:0003369 | DOID:5283 | vagina leiomyosarcoma | UMLS ID:C1336940 +BMGC_DS09175,BMG_DS034645,vaginal yolk sac tumor | DOID:1910 | MONDO:0002143 | UMLS ID:C1336945 +BMGC_DS09176,BMG_DS034647,UMLS ID:C1336955 | MONDO:0003698 | DOID:5908 | penis verrucous carcinoma +BMGC_DS09177,BMG_DS034648,UMLS ID:C1336962 | MONDO:0003991 | villoglandular endometrial endometrioid adenocarcinoma | DOID:6777 +BMGC_DS09178,BMG_DS034649,optic nerve astrocytoma | UMLS ID:C1336971 | optic tract astrocytoma | MONDO:0024649 | DOID:4991 +BMGC_DS09179,BMG_DS034651,vulva adenocarcinoma | MONDO:0024336 | UMLS ID:C1336975 | vulvar adenocarcinoma | DOID:2098 +BMGC_DS09180,BMG_DS034652,vulva basal cell carcinoma | DOID:4301 | UMLS ID:C1336977 | MONDO:0002955 +BMGC_DS09181,BMG_DS034653,vulva fibroepithelial polyp | MONDO:0006620 | DOID:8255 | UMLS ID:C1336978 +BMGC_DS09182,BMG_DS034654,UMLS ID:C1336981 | vulvar seborrheic keratosis | MONDO:0006622 | DOID:6944 +BMGC_DS09183,BMG_DS034655,DOID:2071 | UMLS ID:C1336982 | vestibular papilloma | vulvar squamous papilloma | MONDO:0002194 +BMGC_DS09184,BMG_DS034656,vulva verrucous carcinoma | UMLS ID:C1336983 | MONDO:0002758 | DOID:3740 +BMGC_DS09185,BMG_DS034659,UMLS ID:C1337012 | benign intermediate mesothelioma | DOID:5884 | well differentiated papillary mesothelioma | MONDO:0003688 +BMGC_DS09186,BMG_DS034660,MONDO:0015447 | UMLS ID:C1337013 | differentiated thyroid carcinoma +BMGC_DS09187,BMG_DS034661,Xanthogranulomatous cholecystitis | Xanthogranulomatous cholecystitis (disorder) | MeSH ID:C536762 | SNOMEDCT ID:448286002 | DOID:9766 | xanthogranulomatous cholecystitis | MONDO:0004875 | UMLS ID:C1337035 +BMGC_DS09188,BMG_DS034663,MONDO:0016739 | UMLS ID:C1337040 | yolk sac tumor of central nervous system | DOID:5343 | central nervous system endodermal sinus tumor +BMGC_DS09189,BMG_DS034665,Acute amebiasis | Acute amebiasis (disorder) | UMLS ID:C1363999 | Acute amebic dysentery without mention of abscess | SNOMEDCT ID:39224005 | Acute amoebiasis +BMGC_DS09190,BMG_DS034670,cerebral cavernous malformation 1 | MONDO:0020724 | UMLS ID:C1366911 | OMIM ID:116860 +BMGC_DS09191,BMG_DS034671,kaposiform hemangioendothelioma | UMLS ID:C1367420 | MONDO:0016236 +BMGC_DS09192,BMG_DS034672,juvenile nasopharyngeal angiofibroma | MONDO:0017340 | UMLS ID:C1367536 +BMGC_DS09193,BMG_DS034673,MONDO:0017604 | marginal zone lymphoma | UMLS ID:C1367654 +BMGC_DS09194,BMG_DS034674,DOID:5591 | eccrine papillary adenocarcinoma | UMLS ID:C1367774 +BMGC_DS09195,BMG_DS034676,MONDO:0006369 | DOID:5030 | pineal parenchymal tumor of intermediate differentiation | UMLS ID:C1367859 +BMGC_DS09196,BMG_DS034679,DOID:3443 | mammary Paget's disease | MONDO:0021165 | UMLS ID:C1368019 | Paget disease +BMGC_DS09197,BMG_DS034680,Acute respiratory distress syndrome | Traumatic wet lung | Congestive atelectasis | UMLS ID:C1368020 | SNOMEDCT ID:67782005 | Pulmonary insufficiency following trauma (disorder) | Acute respiratory distress syndrome (disorder) | Post-traumatic pulmonary insufficiency | ARDS - Adult respiratory distress syndrome | Shock lung | SNOMEDCT ID:196153002 | Acquired respiratory distress syndrome | Pulmonary capillary leak syndrome | DaNang lung | Adult respiratory distress syndrome | Adult hyaline membrane disease | Pulmonary insufficiency following trauma | Vietnam lung +BMGC_DS09198,BMG_DS034681,UMLS ID:C1368021 | Acute respiratory distress syndrome | Traumatic wet lung | Pulmonary insufficiency following shock | Congestive atelectasis | SNOMEDCT ID:67782005 | SNOMEDCT ID:196151000 | Acute respiratory distress syndrome (disorder) | Post-traumatic pulmonary insufficiency | ARDS - Adult respiratory distress syndrome | Shock lung | Acquired respiratory distress syndrome | Pulmonary capillary leak syndrome | Pulmonary insufficiency following shock (disorder) | DaNang lung | Adult respiratory distress syndrome | Adult hyaline membrane disease | Vietnam lung +BMGC_DS09199,BMG_DS034682,pancreatic somatostatinoma | MONDO:0002993 | DOID:4432 | UMLS ID:C1368041 +BMGC_DS09200,BMG_DS034683,pancreatic gastrinoma | UMLS ID:C1368066 | MONDO:0003525 | pancreatic gastrin-producing neuroendocrine tumor | DOID:5580 +BMGC_DS09201,BMG_DS034686,UMLS ID:C1368295 | DOID:2513 | basal cell carcinoma +BMGC_DS09202,BMG_DS034687,UMLS ID:C1368354 | mixed cell type cancer | mixed neoplasm | MONDO:0021043 | DOID:154 +BMGC_DS09203,BMG_DS034689,epithelial neoplasm | UMLS ID:C1368683 | DOID:305 | MONDO:0005626 | carcinoma +BMGC_DS09204,BMG_DS034691,UMLS ID:C1368816 | MONDO:0002375 | DOID:2648 | sebaceous adenoma +BMGC_DS09205,BMG_DS034692,childhood neoplasm | UMLS ID:C1368871 | MONDO:0021079 +BMGC_DS09206,BMG_DS034693,adult cystic teratoma | UMLS ID:C1368888 | DOID:7079 | MONDO:0004099 +BMGC_DS09207,BMG_DS034695,cystic teratoma | MONDO:0002379 | DOID:2660 | UMLS ID:C1368903 +BMGC_DS09208,BMG_DS034696,DOID:5566 | UMLS ID:C1368910 | mature teratoma | MONDO:0003517 +BMGC_DS09209,BMG_DS034697,DOID:6228 | UMLS ID:C1368918 | peritoneal serous papillary adenocarcinoma | primary peritoneal serous/papillary carcinoma | MONDO:0018368 +BMGC_DS09210,BMG_DS034699,ovarian granulosa cell tumor | UMLS ID:C1370419 | MONDO:0023283 +BMGC_DS09211,BMG_DS034700,scrotal carcinoma | UMLS ID:C1370468 | DOID:3445 | MONDO:0002650 +BMGC_DS09212,BMG_DS034701,UMLS ID:C1370500 | DOID:5504 | tanycytic ependymoma | MONDO:0003474 +BMGC_DS09213,BMG_DS034702,DOID:7233 | adult central nervous system embryonal carcinoma | MONDO:0004155 | UMLS ID:C1370503 +BMGC_DS09214,BMG_DS034703,adult central nervous system germinoma | MONDO:0004383 | DOID:7867 | UMLS ID:C1370504 +BMGC_DS09215,BMG_DS034704,MONDO:0003952 | adult central nervous system choriocarcinoma | DOID:6634 | UMLS ID:C1370505 +BMGC_DS09216,BMG_DS034705,MONDO:0003731 | adult central nervous system teratoma | UMLS ID:C1370506 | DOID:6015 +BMGC_DS09217,BMG_DS034706,cerebellar liponeurocytoma | UMLS ID:C1370507 | DOID:6458 | MONDO:0006131 +BMGC_DS09218,BMG_DS034707,DOID:8368 | MONDO:0004544 | chordoid meningioma | UMLS ID:C1370510 +BMGC_DS09219,BMG_DS034708,perineurioma | UMLS ID:C1370657 | DOID:4697 +BMGC_DS09220,BMG_DS034709,MONDO:0015032 | UMLS ID:C1370658 | DOID:4696 | intraneural perineurioma +BMGC_DS09221,BMG_DS034710,UMLS ID:C1370659 | MONDO:0002559 | plexiform schwannoma | DOID:3206 +BMGC_DS09222,BMG_DS034711,UMLS ID:C1370701 | DOID:5443 | MONDO:0003447 | clear cell hidradenoma +BMGC_DS09223,BMG_DS034713,bile duct adenocarcinoma | DOID:4896 | MONDO:0003193 | UMLS ID:C1370800 +BMGC_DS09224,BMG_DS034714,pulmonary interstitial emphysema | DOID:10030 | ICD11 ID:CB40.3 | UMLS ID:C1370824 | Interstitial emphysema | Soft tissue emphysema | interstitial emphysema | ICD10 ID:J98.2 | MONDO:0000923 | SNOMEDCT ID:11211003 | Interstitial emphysema (morphologic abnormality) +BMGC_DS09225,BMG_DS034715,MONDO:0005103 | DOID:5690 | UMLS ID:C1370889 | well-differentiated liposarcoma +BMGC_DS09226,BMG_DS034716,inflammatory liposarcoma | DOID:8233 | MONDO:0004510 | UMLS ID:C1370890 +BMGC_DS09227,BMG_DS034717,DOID:7430 | childhood germ cell brain tumor | UMLS ID:C1377598 | MONDO:0004218 +BMGC_DS09228,BMG_DS034718,UMLS ID:C1377604 | childhood CNS choriocarcinoma | DOID:6639 | MONDO:0003953 | pediatric CNS choriocarcinoma +BMGC_DS09229,BMG_DS034719,DOID:7231 | UMLS ID:C1377605 | childhood central nervous system embryonal carcinoma | MONDO:0004153 | childhood CNS embryonal cell carcinoma +BMGC_DS09230,BMG_DS034721,central nervous system endodermal sinus tumor | DOID:5343 | MONDO:0003401 | UMLS ID:C1377613 +BMGC_DS09231,BMG_DS034723,MONDO:0003212 | nasal cavity carcinoma | UMLS ID:C1377785 | DOID:4931 +BMGC_DS09232,BMG_DS034724,UMLS ID:C1377843 | MONDO:0003895 | DOID:6489 | periosteal osteogenic sarcoma +BMGC_DS09233,BMG_DS034725,MONDO:0003886 | DOID:6468 | mucinous cystadenofibroma | UMLS ID:C1377844 +BMGC_DS09234,BMG_DS034726,papillary adenofibroma | MONDO:0003462 | UMLS ID:C1377850 | DOID:5479 +BMGC_DS09235,BMG_DS034727,DOID:5895 | clear cell cystadenofibroma | MONDO:0003693 | UMLS ID:C1377853 +BMGC_DS09236,BMG_DS034728,testis refractory cancer | DOID:7928 | MONDO:0004401 | UMLS ID:C1377904 +BMGC_DS09237,BMG_DS034731,benign pleural mesothelioma | UMLS ID:C1377913 | MONDO:0003308 | DOID:5157 | pleural mesothelioma +BMGC_DS09238,BMG_DS034732,UMLS ID:C1377914 | DOID:4812 | adult brainstem gliosarcoma | MONDO:0003152 +BMGC_DS09239,BMG_DS034733,UMLS ID:C1377915 | DOID:5921 | MONDO:0003705 | adult brainstem mixed glioma +BMGC_DS09240,BMG_DS034735,UMLS ID:C1378050 | MONDO:0010795 | OMIM ID:553000 | oncocytic neoplasm +BMGC_DS09241,BMG_DS034737,UMLS ID:C1378511 | acute leukemia | DOID:12603 +BMGC_DS09242,BMG_DS034738,DOID:4451 | MONDO:0005206 | UMLS ID:C1378703 | renal carcinoma +BMGC_DS09243,BMG_DS034739,UMLS ID:C1382025 | sternum cancer | MONDO:0003273 | DOID:5090 +BMGC_DS09244,BMG_DS034740,sebaceous gland cancer | DOID:4840 | sebaceous carcinoma | UMLS ID:C1382026 | MONDO:0037735 +BMGC_DS09245,BMG_DS034741,DOID:5500 | cellular ependymoma | UMLS ID:C1384403 | MONDO:0003470 +BMGC_DS09246,BMG_DS034742,DOID:4588 | UMLS ID:C1384406 | MONDO:0003055 | secretory meningioma +BMGC_DS09247,BMG_DS034743,DOID:4594 | UMLS ID:C1384408 | MONDO:0003058 | microcystic meningioma +BMGC_DS09248,BMG_DS034744,leptomeningeal sarcoma | MONDO:0004330 | UMLS ID:C1384416 | DOID:7689 | leptomeninges sarcoma +BMGC_DS09249,BMG_DS034748,Hyperaldosteronism | MONDO:0001422 | DOID:12028 | MeSH ID:D006929 | Conn Syndrome | primary aldosteronism | Conn's syndrome | UMLS ID:C1384514 +BMGC_DS09250,BMG_DS034749,"SNOMEDCT ID:367333009 | Male hypogonadism | Primary testicular failure | Eunuchoidism | Primary hypogonadism (disorder) | SNOMEDCT ID:370997001 | SNOMEDCT ID:54238005 | Primary testicular failure (disorder) | Primary male hypogonadism | Testicular hypogonadism | UMLS ID:C1384582 | Eunuchoidism hypogonadism | Eunuchoidism, hypogonadism | Primary failure of the testes | Primary hypogonadism | SNOMEDCT ID:48723006 | Primary gonadal failure | Testicular failure | Male hypogonadism (disorder)" +BMGC_DS09251,BMG_DS034750,Germinal cell absence | Gene deletion in AZF region of Y chromosome | Congenital absence of germinal epithelium of testes (disorder) | Sertoli cell-only syndrome | AZF - Azoospermia factor | Germinal aplasia | UMLS ID:C1384583 | DOID:0050457 | Congenital absence of germinal epithelium of testes | SNOMEDCT ID:73465006 | Sertoli-cell-only syndrome | Azoospermia factor +BMGC_DS09252,BMG_DS034753,Ringworm of genitocrural region | Tinea of perianal region | Tinea cruris | Tinea inguinalis | SNOMEDCT ID:59089002 | Tinea of groin | Tinea cruris (disorder) | (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) (disorder) | ICD10 ID:B35.6 | SNOMEDCT ID:399029005 | Dermatophytosis of groin | (Tinea: [groin/perianal] or [cruris]) or (Dhobie itch) (disorder) | Jock itch | Dermatophytosis of groin and pubic area | Eczema marginatum | Dermatophytosis of groin and pubic area (disorder) | ICD11 ID:1F28.3 | Genitocrural dermatophytosis | SNOMEDCT ID:186989008 | Hebrae | Tinea of groin/perianal | SNOMEDCT ID:266216007 | (Tinea: [groin/perianal] or [cruris]) or (Dhobie itch) | Dermatophytosis of groin and perianal area | UMLS ID:C1384589 | Dhobie itch | (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) | SNOMEDCT ID:240697008 +BMGC_DS09253,BMG_DS034756,Systemic onset juvenile chronic arthritis (disorder) | SNOMEDCT ID:201796004 | Systemic onset juvenile chronic arthritis | Juvenile onset Still's disease | Juvenile arthritis with systemic onset | Systemic onset juvenile rheumatoid arthritis | Systemic juvenile idiopathic arthritis | UMLS ID:C1384600 +BMGC_DS09254,BMG_DS034759,"Spondyloses | Cervical spondylosis (& [without myelopathy]) or (osteoarthritis cervical spine) (disorder) | SNOMEDCT ID:123796003 | SNOMEDCT ID:268074002 | Arthritis - spine | Osteoarthritis - spine | Cervical spondylosis (& [without myelopathy]) or (osteoarthritis cervical spine) | MONDO:0008481 | (Spondyloses: [cervical] or [lumbar] or [sacral]) or (arthritis - spine) or (osteoarthritis - spine) (disorder) | CS - Cervical spondylosis | SNOMEDCT ID:387800004 | Cervical spondyloarthritis | SNOMEDCT ID:202656009 | Cervical spondylitis | Osteoarthritis of spine | Degeneration of lumbar spine | Cervical spondylarthritis | Lumbar spondylosis | Cervical spine degeneration | spondylosis, cervical | Osteoarthritis of cervical spine | UMLS ID:C1384641 | Sacral spondylosis | (Spondyloses: [cervical] or [lumbar] or [sacral]) or (arthritis - spine) or (osteoarthritis - spine) | Cervical arthritis | Cervical osteoarthritis | Osteoarthritis cervical spine | Cervical spondylosis | Arthritis of spine | Cervical spondylosis (disorder) | Cervical spondylosis without myelopathy | SNOMEDCT ID:156622007 | OMIM ID:184300" +BMGC_DS09255,BMG_DS034760,MONDO:0005365 | UMLS ID:C1384666 | hearing loss disorder +BMGC_DS09256,BMG_DS034763,bladder urothelial papilloma | UMLS ID:C1384678 | DOID:6933 | MONDO:0044906 | bladder transitional cell papilloma +BMGC_DS09257,BMG_DS034773,Cystic Disease Of Lung | UMLS ID:C1384901 | MeSH ID:C563237 +BMGC_DS09258,BMG_DS034789,OMIM ID:105805 | interventricular septum aneurysm | MeSH ID:C563239 | UMLS ID:C1387721 | Aneurysm Of Interventricular Septum | MONDO:0007112 +BMGC_DS09259,BMG_DS034790,MeSH ID:C536369 | UMLS ID:C1387797 | DOID:0050256 | Angiostrongylus costaricensis infection | angiostrongyliasis +BMGC_DS09260,BMG_DS034795,DOID:7540 | breast apocrine adenoma | UMLS ID:C1388299 | MONDO:0004273 +BMGC_DS09261,BMG_DS034799,UMLS ID:C1389018 | MONDO:0859565 | atrioventricular septal defect | OMIM ID:606215 +BMGC_DS09262,BMG_DS034802,Peroneal muscle atrophy | OMIM ID:MTHU041535 | UMLS ID:C1389118 +BMGC_DS09263,BMG_DS034819,Endocardial fibroelastosis | UMLS ID:C1391997 | ICD11 ID:BC43.3 | Congenital cardiomyopathy | ICD10 ID:I42.4 +BMGC_DS09264,BMG_DS034840,OMIM ID:261000 | Intrinsic Factor Deficiency | UMLS ID:C1394891 | MONDO:0009852 | hereditary intrinsic factor deficiency | MeSH ID:C563242 +BMGC_DS09265,BMG_DS034847,UMLS ID:C1395852 | polydactyly of a biphalangeal thumb | OMIM ID:174400 | MONDO:0008269 +BMGC_DS09266,BMG_DS034872,Ectopic rhythm | SNOMEDCT ID:29320008 | UMLS ID:C1399226 | Ectopic rhythm (disorder) +BMGC_DS09267,BMG_DS034874,HEMIFACIAL HYPERPLASIA | UMLS ID:C1399354 | OMIM ID:133900 | MONDO:0007590 | hemifacial hypertrophy +BMGC_DS09268,BMG_DS034912,retinitis punctata albescens | UMLS ID:C1405854 | SNOMEDCT ID:715562001 | Retinitis punctata albescens (disorder) | Retinitis punctata albescens | MONDO:0018877 +BMGC_DS09269,BMG_DS034941,"UMLS ID:C1409763 | MONDO:0007826 | incisors, shovel-shaped | OMIM ID:147400" +BMGC_DS09270,BMG_DS034952,"ICD10 ID:K55.1 | SNOMEDCT ID:24988007 | Chronic vascular disorders of intestine, unspecified | Mesenteric vascular insufficiency (disorder) | ICD11 ID:DD31.Z | Mesenteric vascular insufficiency | UMLS ID:C1412000" +BMGC_DS09271,BMG_DS034954,pineal body neoplasm | DOID:5032 | pineal gland cancer | UMLS ID:C1412004 | MONDO:0021232 +BMGC_DS09272,BMG_DS034956,DOID:5667 | MONDO:0005524 | UMLS ID:C1412016 | sweat gland carcinoma +BMGC_DS09273,BMG_DS034958,UMLS ID:C1412036 | DOID:5525 | anal squamous cell carcinoma | MONDO:0006082 +BMGC_DS09274,BMG_DS034959,MONDO:0001470 | anal margin squamous cell carcinoma | DOID:12239 | UMLS ID:C1412037 +BMGC_DS09275,BMG_DS034960,UMLS ID:C1412041 | MeSH ID:C538101 | MONDO:0010707 | Paine syndrome | OMIM ID:311400 +BMGC_DS09276,BMG_DS034961,"OMIM ID:613283 | DEAFNESS, AUTOSOMAL RECESSIVE 25 | OMIM ID:613285 | autosomal recessive nonsyndromic hearing loss 25 | UMLS ID:C1414017 | MONDO:0013210" +BMGC_DS09277,BMG_DS034962,"UMLS ID:C1414216 | MONDO:0011264 | MeSH ID:C538003 | OMIM ID:602629 | Dystonia 6, torsion | torsion dystonia 6" +BMGC_DS09278,BMG_DS034964,"MONDO:0011546 | OMIM ID:605376 | heterotaxy, visceral, 2, autosomal | HETEROTAXY, VISCERAL, 2, AUTOSOMAL | UMLS ID:C1415817 | OMIM ID:605194" +BMGC_DS09279,BMG_DS034965,RETINITIS PIGMENTOSA 23 | OMIM ID:300424 | UMLS ID:C1419610 | retinitis pigmentosa 23 | OMIM ID:300170 | MONDO:0010320 +BMGC_DS09280,BMG_DS034966,retinitis pigmentosa 28 | OMIM ID:613596 | UMLS ID:C1419614 | RETINITIS PIGMENTOSA 28 | OMIM ID:606068 | MONDO:0011630 +BMGC_DS09281,BMG_DS034968,cone-rod dystrophy 9 | MONDO:0013002 | UMLS ID:C1423873 | OMIM ID:612775 | DOID:0111020 | CONE-ROD DYSTROPHY 9 | OMIM ID:602713 +BMGC_DS09282,BMG_DS034975,UMLS ID:C1442835 | SNOMEDCT ID:23346002 | Sunburn | Solar dermatitis | Sunburn (disorder) | ICD10 ID:L57.8 +BMGC_DS09283,BMG_DS034977,UMLS ID:C1442839 | DOID:9971 | SNOMEDCT ID:27712000 | Hypervitaminosis D (disorder) | hypervitaminosis D | Hypervitaminosis D | MONDO:0004937 | Vitamin D excess | ICD11 ID:5B90.2 | SNOMEDCT ID:190969000 | ICD10 ID:E67.3 | Vitamin D intoxication +BMGC_DS09284,BMG_DS034979,"Lumbar Osteoarthritis | UMLS ID:C1442869 | MeSH ID:D055013 | Osteoarthritis, Spine" +BMGC_DS09285,BMG_DS034983,UMLS ID:C1442903 | DOID:203 | exostosis | OMIM ID:MTHU027312 | Exostoses | MeSH ID:D005096 | MONDO:0002181 +BMGC_DS09286,BMG_DS034987,"Muscular Dystrophy, Cardiac Type | UMLS ID:C1442927 | OMIM ID:309930 | muscular dystrophy, cardiac type | MeSH ID:C563247 | MONDO:0010675" +BMGC_DS09287,BMG_DS034988,"autosomal dominant chondrodysplasia punctata | UMLS ID:C1442935 | MeSH ID:C563248 | Chondrodysplasia Punctata, Autosomal Dominant | MONDO:0007321 | OMIM ID:118650" +BMGC_DS09288,BMG_DS034992,Keratinocytic intraepidermal neoplasia | SNOMEDCT ID:46795000 | UMLS ID:C1442958 | DSAP - Disseminated superficial actinic porokeratosis | Disseminated superficial actinic porokeratosis (disorder) | Actinic keratosis | Actinic keratosis (morphologic abnormality) | SNOMEDCT ID:856006 | SNOMEDCT ID:41495000 | Actinic cheilitis | Solar keratosis | Solar keratosis of lip | Actinic porokeratosis | Actinic cheilitis (disorder) | Senile keratoma | Disseminated superficial actinic porokeratosis +BMGC_DS09289,BMG_DS034993,Perthes disease | Avascular necrosis of capital femoral epiphysis | SNOMEDCT ID:15739006 | Avascular necrosis of capital femoral epiphysis (disorder) | OMIM ID:150600 | Osteonecrosis of capital femoral epiphysis | Juvenile osteochondrosis of hip AND/OR pelvis (disorder) | Juvenile osteochondritis of hip AND/OR pelvis | Legg-Calve-Perthes disease | Pseudocoxalgia | Perthes disease of hip | MONDO:0007885 | UMLS ID:C1442965 | SNOMEDCT ID:111255008 | Aseptic necrosis of capital femoral epiphysis | Avascular necrosis of the capital femoral epiphysis +BMGC_DS09290,BMG_DS034995,SNOMEDCT ID:41309000 | Alcoholic liver disease | Alcoholic liver damage | Alcoholic liver damage (disorder) | ALD - Alcoholic liver disease | UMLS ID:C1442981 +BMGC_DS09291,BMG_DS034997,"Hyperglycinaemia with ketosis AND leucopenia, types I AND/OR II | Propionic aciduria | Propionic acidemia (disorder) | Ketotic hyperglycinaemia | Ketotic glycinemia | Propionic acidaemia, type II | SNOMEDCT ID:360364008 | SNOMEDCT ID:18979005 | Ketotic hyperglycinemia | UMLS ID:C1442992 | Ketotic glycinaemia | Propionic acidemia | Hyperglycinemia with ketosis and leukopenia, types I and II | Hyperglycinemia with ketosis AND leukopenia, types I AND/OR II | Ketotic glycinemia, types I and II | Propionyl-CoA carboxylase deficiency (disorder) | Hyperglycinemia with ketosis and leukopenia | Propionic acidaemia | Propionyl-CoA carboxylase deficiency | SNOMEDCT ID:367417005 | Hyperglycinaemia with ketosis and leucopenia | PCC - Propionyl-CoA carboxylase deficiency | Ketotic glycinaemia, types I and II | Propionic acidaemia, type I | Propionic acidemia, type I | SNOMEDCT ID:69080001 | Hyperglycinaemia with ketosis and leucopenia, types I and II | Propionic acidemia, type II" +BMGC_DS09292,BMG_DS035009,Carnitine Acetyltransferase Deficiency | MeSH ID:C563249 | MONDO:0011642 | carnitine acetyltransferase deficiency | OMIM ID:606175 | UMLS ID:C1443228 +BMGC_DS09293,BMG_DS035035,MeSH ID:D011778 | Chronic Q Fever | Q Fever | UMLS ID:C1443892 +BMGC_DS09294,BMG_DS035049,DOID:0040067 | Neomycin sulphate allergy | SNOMEDCT ID:409640001 | Neomycin sulfate allergy | UMLS ID:C1443961 | Neomycin sulfate allergy (disorder) | neomycin sulfate allergic contact dermatitis +BMGC_DS09295,BMG_DS035115,"Juvenile idiopathic arthritis, extended oligoarthritis (disorder) | UMLS ID:C1444843 | Juvenile idiopathic arthritis, extended oligoarthritis | SNOMEDCT ID:410800006" +BMGC_DS09296,BMG_DS035128,"dilated cardiomyopathy 1A | MeSH ID:D002311 | Cardiomyopathy, Familial Idiopathic | MONDO:0007269 | OMIM ID:115200 | Cardiomyopathy, Dilated | UMLS ID:C1449563" +BMGC_DS09297,BMG_DS035129,MeSH ID:D046589 | UMLS ID:C1449626 | CADASILM | CADASIL +BMGC_DS09298,BMG_DS035130,Sphincter of Oddi Stenosis | MeSH ID:D046628 | UMLS ID:C1449630 | Sphincter of Oddi Dysfunction +BMGC_DS09299,BMG_DS035131,MeSH ID:D001657 | UMLS ID:C1449631 | Gallbladder Dyskinesia | Biliary Dyskinesia +BMGC_DS09300,BMG_DS035132,MeSH ID:D010538 | Primary Peritonitis | UMLS ID:C1449646 | Peritonitis +BMGC_DS09301,BMG_DS035133,MeSH ID:D010538 | Secondary Peritonitis | UMLS ID:C1449647 | Peritonitis +BMGC_DS09302,BMG_DS035134,UMLS ID:C1449718 | MeSH ID:D001941 | Endocrine Breast Diseases | Breast Diseases +BMGC_DS09303,BMG_DS035135,UMLS ID:C1449720 | Gynecomastia | Adolescent Gynecomastia | MeSH ID:D006177 +BMGC_DS09304,BMG_DS035136,MONDO:0001323 | UMLS ID:C1449721 | Infant Gynecomastia | Gynecomastia | DOID:11603 | infant gynecomastia | MeSH ID:D006177 +BMGC_DS09305,BMG_DS035139,"Pseudohypoaldosteronism | UMLS ID:C1449842 | MeSH ID:D011546 | autosomal dominant pseudohypoaldosteronism type 1 | OMIM ID:177735 | MONDO:0008329 | Pseudohypoaldosteronism, Type I, Autosomal Dominant" +BMGC_DS09306,BMG_DS035140,"Pseudohypoaldosteronism | Pseudohypoaldosteronism, Type I, Autosomal Recessive | MeSH ID:D011546 | autosomal dominant pseudohypoaldosteronism type 1 | DOID:0060855 | UMLS ID:C1449843" +BMGC_DS09307,BMG_DS035141,"Pseudohypoaldosteronism | Pseudohypoaldosteronism, Type II | MeSH ID:D011546 | UMLS ID:C1449844 | MONDO:0019162 | pseudohypoaldosteronism type 2" +BMGC_DS09308,BMG_DS035142,Erythematotelangiectatic Rosacea | MeSH ID:D012393 | UMLS ID:C1449852 | Rosacea +BMGC_DS09309,BMG_DS035143,Papulopustular Rosacea | MeSH ID:D012393 | UMLS ID:C1449853 | Rosacea +BMGC_DS09310,BMG_DS035144,Phymatous Rosacea | MeSH ID:D012393 | UMLS ID:C1449854 | Rosacea +BMGC_DS09311,BMG_DS035145,"Muscular Dystrophy, Emery-Dreifuss | MeSH ID:D020389 | UMLS ID:C1450051 | Autosomal Recessive Emery-Dreifuss Muscular Dystrophy" +BMGC_DS09312,BMG_DS035146,UMLS ID:C1450052 | Distal Myopathies | MeSH ID:D049310 | Tibial Muscular Dystrophy +BMGC_DS09313,BMG_DS035153,SNOMEDCT ID:91162000 | Necrosis of liver of pregnancy | MONDO:0016573 | AFLP - acute fatty liver of pregnancy | MeSH ID:C537957 | Nonalcoholic fatty liver during pregnancy | UMLS ID:C1455728 | Acute fatty liver of pregnancy | acute fatty liver of pregnancy | Necrosis of liver of pregnancy (disorder) | SNOMEDCT ID:716379000 | Acute fatty liver of pregnancy (disorder) +BMGC_DS09314,BMG_DS035160,Gastric hypertonus | Increased gastric tonus (finding) | Vagotonia | UMLS ID:C1455782 | SNOMEDCT ID:18644006 | Increased gastric tonus +BMGC_DS09315,BMG_DS035164,DOID:216 | smooth surface dental caries | UMLS ID:C1456145 | dental caries | MONDO:0005592 +BMGC_DS09316,BMG_DS035165,UMLS ID:C1456162 | MONDO:0001762 | DOID:13629 | dentine erosion +BMGC_DS09317,BMG_DS035166,DOID:14140 | MONDO:0001890 | pulp erosion | UMLS ID:C1456163 +BMGC_DS09318,BMG_DS035168,internal pathological resorption | DOID:13239 | UMLS ID:C1456167 +BMGC_DS09319,BMG_DS035179,Narcolepsy without cataplexy (disorder) | SNOMEDCT ID:91521000119104 | MONDO:0019371 | narcolepsy without cataplexy | Narcolepsy without cataplexy | ICD10 ID:G47.419 | UMLS ID:C1456240 +BMGC_DS09320,BMG_DS035181,DOID:14131 | Midline cystocele (disorder) | SNOMEDCT ID:423633003 | MONDO:0001886 | midline cystocele | Midline cystocele | UMLS ID:C1456248 +BMGC_DS09321,BMG_DS035182,DOID:12637 | MONDO:0001559 | UMLS ID:C1456251 | perineocele +BMGC_DS09322,BMG_DS035183,MONDO:0001327 | DOID:11629 | pelvic muscle wasting | UMLS ID:C1456255 +BMGC_DS09323,BMG_DS035187,DOID:13575 | UMLS ID:C1456268 | non-renal secondary hyperparathyroidism +BMGC_DS09324,BMG_DS035190,alcohol-induced mental disorder | DOID:251 | UMLS ID:C1456283 +BMGC_DS09325,BMG_DS035200,Still disease with juvenile onset and/or adult onset | UMLS ID:C1456792 | Still's disease with juvenile onset and/or adult onset (disorder) | SNOMEDCT ID:410794002 | Still's disease | Still's disease with juvenile onset and/or adult onset +BMGC_DS09326,BMG_DS035202,MeSH ID:D014514 | UMLS ID:C1456865 | Ureteral Calculi +BMGC_DS09327,BMG_DS035204,Alpha plus thalassemia | Alpha thalassaemia 2 | SNOMEDCT ID:36467003 | Alpha thalassemia 2 | Alpha plus thalassemia (disorder) | UMLS ID:C1456873 | Alpha plus thalassaemia +BMGC_DS09328,BMG_DS035207,Congenital hypogammaglobulinemia (finding) | Bruton's agammaglobulinaemia | UMLS ID:C1457897 | congenital hypogammaglobulinemia | Hypogammaglobulinaemia: [congenital] or [agammaglobulinaemia: (Bruton's) or (congenital sex-linked & [X-linked])] | Congenital sex-linked agammaglobulinemia | Hypogammaglobulinaemia: [congenital] or [agammaglobulinaemia: (Bruton's) or (congenital sex-linked & [X-linked])] (disorder) | Congenital X-linked agammaglobulinemia | Congenital X-linked agammaglobulinaemia | Congenital sex-linked agammaglobulinaemia | DOID:14177 | Congenital hypogammaglobulinemia | SNOMEDCT ID:267460002 | Bruton's agammaglobulinemia | Congenital hypogammaglobulinaemia | Hypogammaglobulinemia: [congenital] or [agammaglobulinemia: (Bruton's) or (congenital sex-linked & [X-linked])] | SNOMEDCT ID:190983003 +BMGC_DS09329,BMG_DS035212,MONDO:0021100 | breast neoplasm | UMLS ID:C1458155 +BMGC_DS09330,BMG_DS035218,"UMLS ID:C1504412 | Puberty, Precocious | DOID:0111545 | Testotoxicosis | familial male-limited precocious puberty | MeSH ID:D011629" +BMGC_DS09331,BMG_DS035227,UMLS ID:C1504568 | SNOMEDCT ID:21290001000004104 | Stenosis of middle cerebral artery (disorder) | Stenosis of middle cerebral artery +BMGC_DS09332,BMG_DS035228,partial chromosome Y deletion | UMLS ID:C1507149 | MONDO:0015607 +BMGC_DS09333,BMG_DS035229,UMLS ID:C1509147 | MONDO:0005509 | histiocytoma | DOID:4231 +BMGC_DS09334,BMG_DS035230,DOID:495 | MONDO:0006280 | lung sclerosing hemangioma | sclerosing hemangioma | UMLS ID:C1509148 +BMGC_DS09335,BMG_DS035232,DOID:9541 | UMLS ID:C1510415 | osteosclerotic myeloma +BMGC_DS09336,BMG_DS035233,gait apraxia | DOID:4260 | Gait Apraxia | MeSH ID:D020235 | UMLS ID:C1510417 | MONDO:0006766 +BMGC_DS09337,BMG_DS035236,nerve compression syndrome | DOID:573 | MONDO:0003615 | UMLS ID:C1510429 | Nerve Compression Syndromes | MeSH ID:D009408 | Entrapment Neuropathies +BMGC_DS09338,BMG_DS035237,Photosensitivity Disorders | MeSH ID:D010787 | Chronic Actinic Dermatitis | UMLS ID:C1510437 +BMGC_DS09339,BMG_DS035240,acrocephalosyndactyly | DOID:12960 | acrocephalosyndactylia | MONDO:0019796 | UMLS ID:C1510455 +BMGC_DS09340,BMG_DS035241,OMIM ID:311200 | DOID:0060316 | MeSH ID:D009958 | orofaciodigital syndrome I | Orofaciodigital Syndrome I | MONDO:0010702 | Orofaciodigital Syndromes | UMLS ID:C1510460 +BMGC_DS09341,BMG_DS035242,Avitaminosis | MONDO:0024298 | UMLS ID:C1510471 | vitamin deficiency disorder | MeSH ID:D001361 | Vitamin Deficiency +BMGC_DS09342,BMG_DS035243,UMLS ID:C1510472 | MONDO:0005303 | drug dependence +BMGC_DS09343,BMG_DS035244,Diverticulum | MeSH ID:D004240 | Diverticulosis | Diverticulum (morphologic abnormality) | OMIM ID:MTHU014943 | SNOMEDCT ID:31113003 | UMLS ID:C1510475 +BMGC_DS09344,BMG_DS035245,amyotrophic neuralgia | MeSH ID:D020968 | Neuralgic Amyotrophy | Brachial Plexus Neuritis | UMLS ID:C1510479 | neuralgic amyotrophy | MONDO:0017362 | DOID:10383 +BMGC_DS09345,BMG_DS035246,"MeSH ID:D028243 | DOID:9246 | Cerebral Amyloid Angiopathy, Familial | Cerebral Amyloid Angiopathy, Hereditary | MONDO:0005620 | cerebral amyloid angiopathy | UMLS ID:C1510489" +BMGC_DS09346,BMG_DS035247,DOID:5389 | oncocytic adenoma | UMLS ID:C1510502 | MONDO:0003424 | oxyphilic adenoma +BMGC_DS09347,BMG_DS035250,autism spectrum disorder | MONDO:0005258 | UMLS ID:C1510586 +BMGC_DS09348,BMG_DS035251,UMLS ID:C1510654 | Anemia (disorder) | Anaemia | SNOMEDCT ID:271737000 | Absolute anaemia | Anemia | Absolute anemia | SNOMEDCT ID:64593003 +BMGC_DS09349,BMG_DS035252,DOID:4422 | adenocarcinofibroma | UMLS ID:C1510778 | MONDO:0002991 | malignant adenofibroma +BMGC_DS09350,BMG_DS035253,MONDO:0001017 | UMLS ID:C1510784 | epididymis adenocarcinoma | DOID:10368 | epididymal adenocarcinoma +BMGC_DS09351,BMG_DS035255,UMLS ID:C1510795 | MONDO:0002066 | DOID:1642 | breast adenomyoepithelioma +BMGC_DS09352,BMG_DS035256,DOID:5623 | adenosquamous breast carcinoma | MONDO:0003548 | UMLS ID:C1510796 +BMGC_DS09353,BMG_DS035257,MONDO:0003306 | DOID:5153 | UMLS ID:C1510961 | atypical neurofibroma +BMGC_DS09354,BMG_DS035258,UMLS ID:C1511047 | Bartholin's gland adenoid cystic carcinoma | DOID:4879 | MONDO:0003187 | Bartholin gland adenoid cystic carcinoma +BMGC_DS09355,BMG_DS035259,Bartholin gland adenoma | DOID:5382 | Bartholin's gland adenoma | UMLS ID:C1511048 | MONDO:0003419 +BMGC_DS09356,BMG_DS035260,Bartholin's gland adenomyoma | Bartholin gland adenomyoma | DOID:6518 | MONDO:0003909 | UMLS ID:C1511049 +BMGC_DS09357,BMG_DS035261,DOID:5630 | Bartholin's gland adenosquamous carcinoma | Bartholin gland adenosquamous carcinoma | UMLS ID:C1511050 | MONDO:0003555 +BMGC_DS09358,BMG_DS035262,MONDO:0004120 | UMLS ID:C1511051 | DOID:7140 | Bartholin's gland small cell carcinoma | Bartholin gland small cell carcinoma +BMGC_DS09359,BMG_DS035263,Bartholin's gland squamous cell carcinoma | bartholin gland squamous cell carcinoma | DOID:6961 | MONDO:0004053 | UMLS ID:C1511052 +BMGC_DS09360,BMG_DS035264,DOID:3998 | Bartholin gland transitional cell carcinoma | Bartholin's gland transitional cell carcinoma | UMLS ID:C1511053 | MONDO:0002828 +BMGC_DS09361,BMG_DS035265,cervical basaloid carcinoma | cervical basaloid squamous cell carcinoma | DOID:7046 | MONDO:0004088 | UMLS ID:C1511063 +BMGC_DS09362,BMG_DS035267,UMLS ID:C1511091 | chondroid syringoma of the vulva | MONDO:0002199 | benign mixed tumor of the vulva | DOID:2078 +BMGC_DS09363,BMG_DS035269,benign vaginal mixed epithelial and mesenchymal neoplasm | DOID:135 | MONDO:0001731 | UMLS ID:C1511106 | benign vaginal carcinosarcoma +BMGC_DS09364,BMG_DS035270,DOID:6505 | benign vaginal mixed tumor | MONDO:0003903 | vaginal spindle cell epithelioma | UMLS ID:C1511107 +BMGC_DS09365,BMG_DS035271,MONDO:0003810 | UMLS ID:C1511187 | bladder diffuse clear cell adenocarcinoma | DOID:6210 +BMGC_DS09366,BMG_DS035272,UMLS ID:C1511188 | MONDO:0003938 | DOID:6594 | bladder colonic type adenocarcinoma +BMGC_DS09367,BMG_DS035273,DOID:8097 | bladder hepatoid adenocarcinoma | UMLS ID:C1511189 | MONDO:0004459 +BMGC_DS09368,BMG_DS035275,bladder mixed adenocarcinoma | DOID:8096 | MONDO:0004458 | UMLS ID:C1511192 +BMGC_DS09369,BMG_DS035276,UMLS ID:C1511193 | bladder colloid adenocarcinoma | DOID:3710 | MONDO:0002750 +BMGC_DS09370,BMG_DS035277,bladder papillary clear cell adenocarcinoma | MONDO:0004445 | DOID:8051 | UMLS ID:C1511196 +BMGC_DS09371,BMG_DS035278,UMLS ID:C1511197 | MONDO:0003442 | bladder papillary transitional cell neoplasm | bladder papillary urothelial neoplasm | DOID:5432 +BMGC_DS09372,BMG_DS035280,bladder tubulo-cystic clear cell adenocarcinoma | UMLS ID:C1511203 | DOID:8050 | MONDO:0004444 +BMGC_DS09373,BMG_DS035281,bladder urachal adenocarcinoma | DOID:7694 | UMLS ID:C1511204 +BMGC_DS09374,BMG_DS035282,UMLS ID:C1511206 | bladder urachal squamous cell carcinoma | DOID:5957 | MONDO:0003714 +BMGC_DS09375,BMG_DS035283,DOID:7244 | MONDO:0004163 | bladder urachal urothelial carcinoma | UMLS ID:C1511207 +BMGC_DS09376,BMG_DS035284,bladder verrucous carcinoma | UMLS ID:C1511208 | DOID:3741 | bladder verrucous squamous cell carcinoma | MONDO:0002759 +BMGC_DS09377,BMG_DS035285,DOID:6788 | UMLS ID:C1511275 | botryoid-type embryonal rhabdomyosarcoma of the vagina | vagina botryoid rhabdomyosarcoma | MONDO:0003994 +BMGC_DS09378,BMG_DS035286,breast adenomyoepithelial adenosis | DOID:7312 | MONDO:0004181 | UMLS ID:C1511283 +BMGC_DS09379,BMG_DS035287,breast angiomatosis | MONDO:0002064 | DOID:1637 | UMLS ID:C1511284 +BMGC_DS09380,BMG_DS035288,DOID:8130 | UMLS ID:C1511305 | breast columnar cell mucinous carcinoma | MONDO:0004472 +BMGC_DS09381,BMG_DS035290,MONDO:0004270 | DOID:7538 | UMLS ID:C1511307 | breast ductal adenoma +BMGC_DS09382,BMG_DS035292,MONDO:0002487 | UMLS ID:C1511312 | DOID:3011 | breast granular cell tumor +BMGC_DS09383,BMG_DS035293,DOID:5370 | breast hemangiopericytoma | UMLS ID:C1511313 | MONDO:0003411 +BMGC_DS09384,BMG_DS035294,MONDO:0003959 | breast large cell neuroendocrine carcinoma | UMLS ID:C1511316 | DOID:6657 +BMGC_DS09385,BMG_DS035296,DOID:3609 | MONDO:0002705 | UMLS ID:C1511318 | breast mucinous cystadenocarcinoma +BMGC_DS09386,BMG_DS035297,UMLS ID:C1511319 | DOID:3004 | breast myoepithelial neoplasm | MONDO:0002483 | breast myoepithelial tumor +BMGC_DS09387,BMG_DS035299,bulbomembranous urethral cancer | DOID:8259 | MONDO:0004516 | UMLS ID:C1511339 +BMGC_DS09388,BMG_DS035300,DOID:4160 | UMLS ID:C1511934 | MONDO:0002899 | differentiating neuroblastoma +BMGC_DS09389,BMG_DS035303,familiar fallopian tube carcinoma | hereditary fallopian tube carcinoma | MONDO:0004166 | UMLS ID:C1512418 | DOID:7266 +BMGC_DS09390,BMG_DS035304,DOID:6846 | MONDO:0018961 | UMLS ID:C1512419 | familial melanoma +BMGC_DS09391,BMG_DS035306,UMLS ID:C1512709 | chronic NK-cell lymphocytosis | MONDO:0004234 | DOID:7465 | chronic lymphoproliferative disorder of NK-cells +BMGC_DS09392,BMG_DS035307,MONDO:0004299 | infiltrating bladder lymphoepithelioma-like carcinoma | DOID:7600 | UMLS ID:C1512736 +BMGC_DS09393,BMG_DS035308,"DOID:6476 | MONDO:0003889 | infiltrating bladder urothelial carcinoma, clear cell variant | UMLS ID:C1512737 | clear cell variant infiltrating bladder urothelial carcinoma" +BMGC_DS09394,BMG_DS035309,DOID:7967 | MONDO:0004415 | lipid-cell variant infiltrating bladder urothelial carcinoma | UMLS ID:C1512738 +BMGC_DS09395,BMG_DS035310,DOID:7972 | UMLS ID:C1512739 | lymphoma-like variant infiltrating bladder urothelial carcinoma +BMGC_DS09396,BMG_DS035311,MONDO:0004418 | UMLS ID:C1512740 | DOID:7971 | microcystic variant infiltrating bladder urothelial carcinoma +BMGC_DS09397,BMG_DS035312,UMLS ID:C1512741 | MONDO:0004417 | nested variant infiltrating bladder urothelial carcinoma | DOID:7969 +BMGC_DS09398,BMG_DS035313,DOID:7968 | MONDO:0004416 | UMLS ID:C1512742 | plasmacytoid variant infiltrating bladder urothelial carcinoma +BMGC_DS09399,BMG_DS035314,MONDO:0004278 | DOID:7553 | infiltrating bladder urothelial carcinoma sarcomatoid variant | UMLS ID:C1512743 +BMGC_DS09400,BMG_DS035315,infiltrating ureter transitional cell carcinoma | DOID:6845 | infiltrating renal pelvis/ureter urothelial carcinoma | MONDO:0004010 | UMLS ID:C1512750 +BMGC_DS09401,BMG_DS035317,MONDO:0024320 | DOID:5102 | inner ear neoplasm | UMLS ID:C1512779 | inner ear cancer +BMGC_DS09402,BMG_DS035318,DOID:8068 | MONDO:0004449 | UMLS ID:C1512935 | intraductal breast myoepitheliosis +BMGC_DS09403,BMG_DS035319,vaginal carcinosarcoma | MONDO:0037746 | malignant vaginal mixed epithelial and mesenchymal neoplasm | UMLS ID:C1512974 | DOID:136 +BMGC_DS09404,BMG_DS035321,UMLS ID:C1513364 | MONDO:0004526 | mixed endometrial stromal and smooth muscle tumor | DOID:8302 +BMGC_DS09405,BMG_DS035322,mixed epithelial/mesenchymal metaplastic breast carcinoma | UMLS ID:C1513365 | DOID:7541 | MONDO:0004274 +BMGC_DS09406,BMG_DS035323,penis mixed squamous cell carcinoma | MONDO:0004430 | UMLS ID:C1513369 | DOID:8009 +BMGC_DS09407,BMG_DS035324,mucin-rich endometrial endometrioid adenocarcinoma | DOID:7293 | MONDO:0004175 | UMLS ID:C1513711 +BMGC_DS09408,BMG_DS035325,UMLS ID:C1513718 | DOID:7024 | mucinous intrahepatic cholangiocarcinoma | MONDO:0004078 +BMGC_DS09409,BMG_DS035326,DOID:4472 | UMLS ID:C1513719 | mucinous tubular and spindle renal cell carcinoma +BMGC_DS09410,BMG_DS035327,thyroid gland mucoepidermoid carcinoma | UMLS ID:C1513721 | MONDO:0006463 | DOID:4687 +BMGC_DS09411,BMG_DS035329,DOID:7521 | breast myoepitheliosis | MONDO:0004262 | UMLS ID:C1513799 +BMGC_DS09412,BMG_DS035331,UMLS ID:C1514199 | MONDO:0003989 | polyembryoma of the ovary | DOID:6774 +BMGC_DS09413,BMG_DS035332,MONDO:0004442 | UMLS ID:C1514200 | testis polyembryoma | DOID:8042 +BMGC_DS09414,BMG_DS035333,potassium deficiency disease | hypokalemia | UMLS ID:C1514284 | DOID:4500 | MONDO:0003019 +BMGC_DS09415,BMG_DS035334,glioblastoma | DOID:3068 | UMLS ID:C1514422 +BMGC_DS09416,BMG_DS035335,primary peritoneal carcinoma | MONDO:0015686 | UMLS ID:C1514428 | peritoneal carcinoma | DOID:1791 +BMGC_DS09417,BMG_DS035336,primary peritoneal serous adenocarcinoma | DOID:4901 | UMLS ID:C1514429 | MONDO:0006386 | peritoneal serous adenocarcinoma +BMGC_DS09418,BMG_DS035339,MONDO:0003790 | DOID:6166 | UMLS ID:C1514522 | prostatic urethra urothelial carcinoma +BMGC_DS09419,BMG_DS035340,UMLS ID:C1514523 | DOID:6167 | MONDO:0003791 | prostatic urethral cancer +BMGC_DS09420,BMG_DS035341,MONDO:0002874 | UMLS ID:C1514608 | testicular pure germ cell tumor | DOID:4087 +BMGC_DS09421,BMG_DS035342,UMLS ID:C1514844 | renal pelvis urothelial papilloma | MONDO:0003777 | DOID:6119 +BMGC_DS09422,BMG_DS035343,DOID:6837 | UMLS ID:C1514905 | rete ovarii adenoma | MONDO:0004005 +BMGC_DS09423,BMG_DS035344,UMLS ID:C1514906 | MONDO:0004006 | DOID:6838 | rete ovarii cystadenofibroma +BMGC_DS09424,BMG_DS035345,MONDO:0003610 | UMLS ID:C1514907 | DOID:5725 | rete ovarii cystadenoma +BMGC_DS09425,BMG_DS035346,DOID:4895 | rete ovarii neoplasm | MONDO:0003192 | rete ovarii benign neoplasm | UMLS ID:C1514909 +BMGC_DS09426,BMG_DS035348,rete testis neoplasm | DOID:5639 | MONDO:0003562 | UMLS ID:C1514912 +BMGC_DS09427,BMG_DS035350,DOID:3038 | UMLS ID:C1515024 | submucosal invasive colon adenocarcinoma | MONDO:0002496 +BMGC_DS09428,BMG_DS035351,DOID:6742 | MONDO:0003983 | synchronous bilateral breast carcinoma | UMLS ID:C1515107 +BMGC_DS09429,BMG_DS035352,tamoxifen-related endometrial lesion | MONDO:0004414 | DOID:7962 | UMLS ID:C1515212 +BMGC_DS09430,BMG_DS035353,MONDO:0003118 | testicular Brenner tumor | UMLS ID:C1515281 | DOID:4739 +BMGC_DS09431,BMG_DS035356,UMLS ID:C1515284 | adult type testicular granulosa cell tumor | DOID:8394 | MONDO:0004548 +BMGC_DS09432,BMG_DS035357,UMLS ID:C1515285 | MONDO:0003741 | DOID:6032 | juvenile type testicular granulosa cell tumor +BMGC_DS09433,BMG_DS035358,testicular Leydig cell tumor | UMLS ID:C1515288 | malignant testicular Leydig cell tumor | DOID:4756 | MONDO:0003737 +BMGC_DS09434,BMG_DS035359,UMLS ID:C1515289 | DOID:4757 | testicular sex cord-stromal neoplasm +BMGC_DS09435,BMG_DS035360,DOID:6693 | MONDO:0003966 | testicular monophasic choriocarcinoma | UMLS ID:C1515290 +BMGC_DS09436,BMG_DS035361,cribriform variant testicular seminoma | MONDO:0004168 | DOID:7269 | UMLS ID:C1515292 +BMGC_DS09437,BMG_DS035362,MONDO:0004541 | UMLS ID:C1515293 | DOID:8358 | pseudoglandular variant testicular seminoma +BMGC_DS09438,BMG_DS035363,tubular variant testicular seminoma | MONDO:0003973 | DOID:6706 | UMLS ID:C1515294 +BMGC_DS09439,BMG_DS035365,MONDO:0002871 | testicular trophoblastic tumor | UMLS ID:C1515301 | DOID:4084 +BMGC_DS09440,BMG_DS035366,"DOID:7302 | UMLS ID:C1515303 | endodermal sinus pattern testicular yolk sac tumor | testicular yolk sac tumor, endodermal sinus pattern | MONDO:0004178" +BMGC_DS09441,BMG_DS035367,UMLS ID:C1515304 | DOID:8362 | MONDO:0004543 | enteric pattern testicular yolk sac tumor +BMGC_DS09442,BMG_DS035368,"UMLS ID:C1515305 | testicular yolk sac tumor, glandular-alveolar pattern | MONDO:0004402 | DOID:7930 | glandular-alveolar pattern testicular yolk sac tumor" +BMGC_DS09443,BMG_DS035369,"UMLS ID:C1515306 | hepatoid pattern testicular yolk sac tumor | testicular yolk sac tumor, hepatoid pattern | MONDO:0004494 | DOID:8195" +BMGC_DS09444,BMG_DS035370,"testicular yolk sac tumor, macrocystic pattern | DOID:7097 | macrocystic pattern testicular yolk sac tumor | UMLS ID:C1515307 | MONDO:0004106" +BMGC_DS09445,BMG_DS035371,DOID:8392 | reticular pattern testicular yolk sac tumor | MONDO:0004547 | UMLS ID:C1515308 +BMGC_DS09446,BMG_DS035372,"testicular yolk sac tumor, myxomatous pattern | MONDO:0004453 | UMLS ID:C1515309 | myxomatous pattern testicular yolk sac tumor | DOID:8081" +BMGC_DS09447,BMG_DS035373,"testicular yolk sac tumor, papillary pattern | papillary pattern testicular yolk sac tumor | UMLS ID:C1515310 | MONDO:0004493 | DOID:8193" +BMGC_DS09448,BMG_DS035374,polyvesicular vitelline pattern testicular yolk sac tumor | UMLS ID:C1515311 | DOID:7435 | MONDO:0004219 +BMGC_DS09449,BMG_DS035375,"testicular yolk sac tumor, solid pattern | solid pattern testicular yolk sac tumor | DOID:7360 | UMLS ID:C1515312 | MONDO:0004198" +BMGC_DS09450,BMG_DS035376,UMLS ID:C1515864 | lymphoepithelioma-like acinar prostate adenocarcinoma | DOID:7246 +BMGC_DS09451,BMG_DS035377,DOID:5743 | acinic cell breast carcinoma | UMLS ID:C1515868 | MONDO:0003624 +BMGC_DS09452,BMG_DS035378,adult vagina botryoid embryonal rhabdomyosarcoma | UMLS ID:C1515893 | MONDO:0004013 | DOID:6848 | adult vagina botryoid rhabdomyosarcoma +BMGC_DS09453,BMG_DS035379,DOID:7632 | UMLS ID:C1516284 | Cowper gland carcinoma | MONDO:0004311 | carcinoma of Cowper glands +BMGC_DS09454,BMG_DS035380,MONDO:0003975 | UMLS ID:C1516285 | DOID:6721 | Littre gland carcinoma +BMGC_DS09455,BMG_DS035381,DOID:5152 | cellular neurofibroma | UMLS ID:C1516371 | MONDO:0003305 +BMGC_DS09456,BMG_DS035383,UMLS ID:C1516403 | DOID:6428 | MONDO:0006132 | cervical adenoid basal carcinoma +BMGC_DS09457,BMG_DS035384,MONDO:0003238 | cervical adenomyoma | DOID:4995 | UMLS ID:C1516404 +BMGC_DS09458,BMG_DS035385,MONDO:0004486 | endocervical type cervical adenomyoma | UMLS ID:C1516405 | DOID:8177 +BMGC_DS09459,BMG_DS035386,"MONDO:0004542 | UMLS ID:C1516407 | DOID:8361 | glassy cell variant cervical adenosquamous carcinoma | cervical adenosquamous carcinoma, glassy cell variant" +BMGC_DS09460,BMG_DS035387,UMLS ID:C1516408 | cervical alveolar soft part sarcoma | DOID:4442 | MONDO:0003003 +BMGC_DS09461,BMG_DS035388,DOID:8179 | cervical atypical polypoid adenomyoma | UMLS ID:C1516409 | MONDO:0004488 +BMGC_DS09462,BMG_DS035390,UMLS ID:C1516417 | cervical large cell neuroendocrine carcinoma | MONDO:0006138 | DOID:6659 +BMGC_DS09463,BMG_DS035391,DOID:7598 | UMLS ID:C1516418 | cervical lymphoepithelioma-like carcinoma | MONDO:0004296 +BMGC_DS09464,BMG_DS035392,UMLS ID:C1516419 | DOID:5368 | Wolffian duct adenocarcinoma | MONDO:0003410 +BMGC_DS09465,BMG_DS035393,cervical carcinosarcoma | DOID:4112 | UMLS ID:C1516420 +BMGC_DS09466,BMG_DS035394,DOID:8339 | MONDO:0004537 | intestinal variant cervical mucinous adenocarcinoma | UMLS ID:C1516422 +BMGC_DS09467,BMG_DS035395,"cervical mucinous adenocarcinoma, minimal deviation variant | MONDO:0006140 | cervical adenoma malignum | DOID:6627 | UMLS ID:C1516423" +BMGC_DS09468,BMG_DS035396,DOID:6101 | UMLS ID:C1516424 | MONDO:0003768 | signet ring cell variant cervical mucinous adenocarcinoma +BMGC_DS09469,BMG_DS035397,MONDO:0002876 | DOID:4111 | UMLS ID:C1516426 | cervical adenosarcoma +BMGC_DS09470,BMG_DS035399,MONDO:0003631 | UMLS ID:C1516431 | DOID:5752 | cervical serous adenocarcinoma +BMGC_DS09471,BMG_DS035400,cervical verrucous carcinoma | UMLS ID:C1516435 | MONDO:0002761 | DOID:3743 +BMGC_DS09472,BMG_DS035401,DOID:5190 | cervical Wilms' tumor | UMLS ID:C1516437 | MONDO:0006144 | cervical Wilms tumor +BMGC_DS09473,BMG_DS035402,UMLS ID:C1516475 | classic congenital mesoblastic nephroma | DOID:8083 | MONDO:0004455 +BMGC_DS09474,BMG_DS035403,DOID:7642 | MONDO:0004315 | UMLS ID:C1516490 | cholangiolocellular carcinoma +BMGC_DS09475,BMG_DS035404,DOID:8106 | UMLS ID:C1516553 | cellular phase chronic idiopathic myelofibrosis | MONDO:0004463 +BMGC_DS09476,BMG_DS035405,MONDO:0002950 | DOID:4293 | clear cell basal cell carcinoma | UMLS ID:C1516599 | skin clear cell basal cell carcinoma +BMGC_DS09477,BMG_DS035406,MONDO:0004408 | Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma | schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma | UMLS ID:C1516760 | DOID:7951 +BMGC_DS09478,BMG_DS035407,DOID:7949 | stroma-dominant and stroma-poor composite ganglioneuroblastoma | UMLS ID:C1516761 | MONDO:0004407 +BMGC_DS09479,BMG_DS035409,endometrial small cell carcinoma | UMLS ID:C1516858 | DOID:7139 | MONDO:0006197 +BMGC_DS09480,BMG_DS035410,endometrial transitional cell carcinoma | DOID:4005 | MONDO:0002832 | UMLS ID:C1516864 +BMGC_DS09481,BMG_DS035412,UMLS ID:C1517109 | fallopian tube adenofibroma | DOID:5478 | fallopian tube serous adenofibroma | MONDO:0003461 +BMGC_DS09482,BMG_DS035414,DOID:8211 | fallopian tube cystadenofibroma | MONDO:0004501 | UMLS ID:C1517111 +BMGC_DS09483,BMG_DS035415,UMLS ID:C1517113 | DOID:5831 | fallopian tube endometrioid adenocarcinoma | fallopian tube endometrioid tumor | MONDO:0021576 +BMGC_DS09484,BMG_DS035416,fallopian tube germ cell cancer | DOID:5324 | fallopian tube germ cell tumor | UMLS ID:C1517114 | MONDO:0003392 +BMGC_DS09485,BMG_DS035418,fallopian tube leiomyosarcoma | DOID:1965 | UMLS ID:C1517116 | MONDO:0002159 +BMGC_DS09486,BMG_DS035419,DOID:1970 | UMLS ID:C1517117 | fallopian tube carcinosarcoma | MONDO:0006207 +BMGC_DS09487,BMG_DS035420,UMLS ID:C1517119 | fallopian tube mucinous adenocarcinoma | DOID:3704 | MONDO:0002744 +BMGC_DS09488,BMG_DS035422,DOID:1973 | fallopian tube adenosarcoma | MONDO:0002162 | UMLS ID:C1517121 +BMGC_DS09489,BMG_DS035424,fallopian tube serous adenocarcinoma | DOID:5598 | UMLS ID:C1517124 | MONDO:0006208 +BMGC_DS09490,BMG_DS035425,DOID:5564 | MONDO:0003515 | UMLS ID:C1517127 | fallopian tube teratoma +BMGC_DS09491,BMG_DS035426,DOID:4008 | UMLS ID:C1517128 | MONDO:0002833 | fallopian tube transitional cell carcinoma +BMGC_DS09492,BMG_DS035427,DOID:738 | UMLS ID:C1517154 | female urethral cancer | MONDO:0004203 +BMGC_DS09493,BMG_DS035428,MONDO:0003326 | intermixed schwannian stroma-rich ganglioneuroblastoma | DOID:5194 | UMLS ID:C1517444 +BMGC_DS09494,BMG_DS035429,DOID:5193 | nodular ganglioneuroblastoma | MONDO:0003325 | UMLS ID:C1517445 +BMGC_DS09495,BMG_DS035430,DOID:7591 | MONDO:0004294 | gestational ovarian choriocarcinoma | UMLS ID:C1517538 +BMGC_DS09496,BMG_DS035431,MONDO:0004057 | DOID:6976 | micropapillary variant infiltrating bladder urothelial carcinoma | UMLS ID:C1517579 +BMGC_DS09497,BMG_DS035432,UMLS ID:C1517658 | cervical keratinizing squamous cell carcinoma | DOID:7483 | MONDO:0004239 +BMGC_DS09498,BMG_DS035433,late yaws | UMLS ID:C1517744 | DOID:10567 | MONDO:0001066 +BMGC_DS09499,BMG_DS035435,DOID:7076 | MONDO:0021090 | UMLS ID:C1517894 | breast lipid-rich carcinoma | lipid-rich breast carcinoma +BMGC_DS09500,BMG_DS035437,MONDO:0004197 | DOID:736 | UMLS ID:C1518164 | male urethral cancer +BMGC_DS09501,BMG_DS035438,UMLS ID:C1518167 | breast myoepithelial carcinoma | malignant breast myoepithelioma | MONDO:0003990 | DOID:6776 +BMGC_DS09502,BMG_DS035439,cervical carcinosarcoma | UMLS ID:C1518168 | DOID:4112 +BMGC_DS09503,BMG_DS035441,DOID:6212 | UMLS ID:C1518231 | MONDO:0003812 | ovarian endometrial cancer +BMGC_DS09504,BMG_DS035442,UMLS ID:C1518233 | MONDO:0024282 | mucinous ovarian cancer | ovarian mucinous neoplasm | DOID:6067 +BMGC_DS09505,BMG_DS035443,DOID:5744 | UMLS ID:C1518234 | malignant ovarian serous tumor | MONDO:0024885 | ovary serous adenocarcinoma +BMGC_DS09506,BMG_DS035444,UMLS ID:C1518236 | malignant ovarian surface epithelial-stromal neoplasm | DOID:2151 +BMGC_DS09507,BMG_DS035445,non-gestational ovarian choriocarcinoma | UMLS ID:C1518355 | MONDO:0004322 | DOID:7665 +BMGC_DS09508,BMG_DS035446,MONDO:0003822 | non-invasive bladder papillary urothelial neoplasm | DOID:6239 | UMLS ID:C1518358 +BMGC_DS09509,BMG_DS035447,DOID:6065 | UMLS ID:C1518361 | MONDO:0003755 | urinary tract non-invasive transitional cell neoplasm +BMGC_DS09510,BMG_DS035448,cervical non-keratinizing squamous cell carcinoma | DOID:7961 | UMLS ID:C1518366 | MONDO:0004413 +BMGC_DS09511,BMG_DS035449,oncocytic breast carcinoma | DOID:6585 | breast oncocytic carcinoma | MONDO:0003935 | UMLS ID:C1518574 +BMGC_DS09512,BMG_DS035450,DOID:6232 | MONDO:0003821 | UMLS ID:C1518691 | ovarian biphasic or triphasic teratoma +BMGC_DS09513,BMG_DS035451,DOID:5304 | MONDO:0006045 | UMLS ID:C1518693 | ovarian clear cell adenocarcinoma +BMGC_DS09514,BMG_DS035452,MONDO:0003695 | UMLS ID:C1518694 | ovarian clear cell adenofibroma | DOID:5897 +BMGC_DS09515,BMG_DS035453,UMLS ID:C1518695 | DOID:5896 | MONDO:0003694 | ovarian clear cell cystadenofibroma +BMGC_DS09516,BMG_DS035454,DOID:6445 | ovarian endometrioid malignant adenofibroma | MONDO:0003879 | UMLS ID:C1518711 | ovarian endometrioid adenocarcinofibroma +BMGC_DS09517,BMG_DS035455,MONDO:0004136 | DOID:7191 | ovarian endometrioid cystadenoma | UMLS ID:C1518713 +BMGC_DS09518,BMG_DS035456,DOID:6314 | UMLS ID:C1518715 | MONDO:0003851 | ovarian fetiform teratoma +BMGC_DS09519,BMG_DS035457,ovarian gonadoblastoma | DOID:3578 | UMLS ID:C1518716 | OMIM ID:424500 | MONDO:0002697 +BMGC_DS09520,BMG_DS035458,DOID:2150 | ovarian lymphoma | MONDO:0002227 | UMLS ID:C1518720 +BMGC_DS09521,BMG_DS035459,UMLS ID:C1518721 | DOID:2143 | MONDO:0002223 | ovarian malignant mesothelioma +BMGC_DS09522,BMG_DS035460,DOID:6469 | ovarian mucinous adenofibroma | UMLS ID:C1518723 | MONDO:0003887 +BMGC_DS09523,BMG_DS035461,DOID:7013 | UMLS ID:C1518725 | MONDO:0004074 | ovarian mucinous cystadenofibroma +BMGC_DS09524,BMG_DS035462,MONDO:0003408 | ovarian primitive germ cell tumor | DOID:5351 | UMLS ID:C1518727 +BMGC_DS09525,BMG_DS035463,ovarian serous adenofibroma | UMLS ID:C1518729 | MONDO:0006340 | DOID:5474 +BMGC_DS09526,BMG_DS035467,DOID:7347 | UMLS ID:C1518743 | MONDO:0004194 | ovarian stromal hyperthecosis +BMGC_DS09527,BMG_DS035468,UMLS ID:C1518746 | MONDO:0002230 | DOID:2153 | ovarian Wilms tumor | ovarian Wilms' cancer +BMGC_DS09528,BMG_DS035469,"ovarian yolk sac tumor, glandular pattern | MONDO:0003905 | DOID:6511 | UMLS ID:C1518747 | glandular pattern ovarian yolk sac tumor" +BMGC_DS09529,BMG_DS035470,"ovarian yolk sac tumor, hepatoid pattern | MONDO:0003906 | hepatoid pattern ovarian yolk sac tumor | UMLS ID:C1518748 | DOID:6512" +BMGC_DS09530,BMG_DS035471,"ovarian yolk sac tumor, polyvesicular vitelline pattern | UMLS ID:C1518749 | polyvesicular vitelline pattern ovarian yolk sac tumor | DOID:6514 | MONDO:0003907" +BMGC_DS09531,BMG_DS035472,DOID:6865 | MONDO:0004019 | UMLS ID:C1518768 | oxyphilic endometrial endometrioid adenocarcinoma +BMGC_DS09532,BMG_DS035474,pancreatic invasive mucinous cystadenocarcinoma | DOID:7236 | MONDO:0004158 | UMLS ID:C1518870 | pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma +BMGC_DS09533,BMG_DS035475,pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma | UMLS ID:C1518871 | DOID:8150 | pancreatic invasive intraductal papillary-mucinous carcinoma | MONDO:0004481 +BMGC_DS09534,BMG_DS035476,pancreatic mucinous-cystic neoplasm | pancreatic mucinous cystadenoma | MONDO:0044879 | UMLS ID:C1518872 | DOID:7235 +BMGC_DS09535,BMG_DS035477,DOID:7685 | UMLS ID:C1518873 | pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia | pancreatic non-invasive intraductal papillary-mucinous carcinoma | MONDO:0004329 +BMGC_DS09536,BMG_DS035478,DOID:3919 | MONDO:0002810 | UMLS ID:C1518875 | pancreatic serous cystic neoplasm +BMGC_DS09537,BMG_DS035479,chromophil adenoma of the kidney | UMLS ID:C1518879 | DOID:6257 | MONDO:0003829 +BMGC_DS09538,BMG_DS035480,DOID:6975 | UMLS ID:C1518882 | MONDO:0004056 | bladder urothelial papillary carcinoma | bladder papillary urothelial carcinoma +BMGC_DS09539,BMG_DS035481,DOID:4277 | MONDO:0002935 | UMLS ID:C1518949 | penis basal cell carcinoma +BMGC_DS09540,BMG_DS035482,DOID:8223 | penile urethral cancer | UMLS ID:C1518950 | MONDO:0004504 +BMGC_DS09541,BMG_DS035483,periductal breast myoepitheliosis | DOID:7520 | UMLS ID:C1518974 | MONDO:0004261 +BMGC_DS09542,BMG_DS035484,MONDO:0004820 | peripheral nerve schwannoma | UMLS ID:C1519001 | DOID:956 +BMGC_DS09543,BMG_DS035485,MONDO:0016692 | pilomyxoid astrocytoma | DOID:4845 | UMLS ID:C1519086 +BMGC_DS09544,BMG_DS035487,OMIM ID:181030 | MONDO:0008401 | UMLS ID:C1519176 | pleomorphic adenoma +BMGC_DS09545,BMG_DS035488,UMLS ID:C1519182 | DOID:4303 | MONDO:0002957 | sarcomatoid basal cell carcinoma +BMGC_DS09546,BMG_DS035489,MONDO:0004451 | sarcomatous intrahepatic cholangiocarcinoma | UMLS ID:C1519184 | DOID:8072 +BMGC_DS09547,BMG_DS035490,MONDO:0003635 | sebaceous breast carcinoma | UMLS ID:C1519207 | DOID:5760 +BMGC_DS09548,BMG_DS035491,UMLS ID:C1519233 | DOID:14545 | MONDO:0001993 | seminal vesicle adenocarcinoma +BMGC_DS09549,BMG_DS035492,seminal vesicle cystadenoma | DOID:5724 | MONDO:0003609 | UMLS ID:C1519234 +BMGC_DS09550,BMG_DS035493,DOID:4304 | signet ring basal cell carcinoma | UMLS ID:C1519320 | MONDO:0002958 +BMGC_DS09551,BMG_DS035494,MONDO:0004346 | UMLS ID:C1519321 | signet ring cell intrahepatic cholangiocarcinoma | DOID:7733 +BMGC_DS09552,BMG_DS035496,MONDO:0004229 | acantholytic variant squamous cell breast carcinoma | DOID:7459 | UMLS ID:C1519485 +BMGC_DS09553,BMG_DS035497,DOID:7461 | MONDO:0004232 | UMLS ID:C1519486 | large cell keratinizing variant squamous cell breast carcinoma +BMGC_DS09554,BMG_DS035498,spindle cell variant squamous cell breast carcinoma | UMLS ID:C1519487 | MONDO:0004231 | DOID:7460 +BMGC_DS09555,BMG_DS035500,type 1 papillary adenoma of the kidney | MONDO:0003830 | DOID:6258 | UMLS ID:C1519706 +BMGC_DS09556,BMG_DS035501,UMLS ID:C1519710 | DOID:6259 | type 2 papillary adenoma of the kidney | MONDO:0003831 +BMGC_DS09557,BMG_DS035503,UMLS ID:C1519823 | DOID:6936 | ureter urothelial papilloma | MONDO:0004044 +BMGC_DS09558,BMG_DS035504,DOID:2140 | urethral urothelial papilloma | UMLS ID:C1519826 | MONDO:0002221 +BMGC_DS09559,BMG_DS035505,MONDO:0002763 | UMLS ID:C1519827 | DOID:3749 | urethral verrucous carcinoma +BMGC_DS09560,BMG_DS035506,MONDO:0003565 | urethral villous adenoma | DOID:5643 | UMLS ID:C1519828 +BMGC_DS09561,BMG_DS035508,DOID:7878 | UMLS ID:C1519844 | MONDO:0004386 | uterine corpus atypical polypoid adenomyoma +BMGC_DS09562,BMG_DS035509,DOID:7242 | UMLS ID:C1519845 | uterine corpus cellular leiomyoma | MONDO:0004162 +BMGC_DS09563,BMG_DS035510,MONDO:0001842 | DOID:13953 | uterine corpus dissecting leiomyoma | UMLS ID:C1519847 +BMGC_DS09564,BMG_DS035511,uterine corpus endometrial stromal sarcoma | DOID:4227 | UMLS ID:C1519849 | MONDO:0002923 +BMGC_DS09565,BMG_DS035512,UMLS ID:C1519850 | DOID:13951 | MONDO:0001841 | uterine corpus epithelioid leiomyoma +BMGC_DS09566,BMG_DS035513,MONDO:0003782 | uterine corpus epithelioid leiomyosarcoma | UMLS ID:C1519851 | DOID:6139 +BMGC_DS09567,BMG_DS035514,MONDO:0004161 | UMLS ID:C1519852 | DOID:7241 | uterine corpus apoplectic leiomyoma +BMGC_DS09568,BMG_DS035517,DOID:13957 | uterine corpus lipoleiomyoma | UMLS ID:C1519856 | MONDO:0001845 +BMGC_DS09569,BMG_DS035519,DOID:3707 | endometrial mucinous adenocarcinoma | UMLS ID:C1519859 | MONDO:0002747 +BMGC_DS09570,BMG_DS035520,DOID:13956 | UMLS ID:C1519860 | MONDO:0001844 | uterine corpus myxoid leiomyoma +BMGC_DS09571,BMG_DS035521,uterine corpus myxoid leiomyosarcoma | UMLS ID:C1519861 | DOID:6567 | MONDO:0003928 +BMGC_DS09572,BMG_DS035522,uterus perivascular epithelioid cell tumor | MONDO:0004221 | UMLS ID:C1519862 | uterine corpus perivascular epithelioid cell tumor | DOID:7437 +BMGC_DS09573,BMG_DS035524,uterine ligament neoplasm | UMLS ID:C1519870 | DOID:5727 | uterine ligament cancer | MONDO:0021629 +BMGC_DS09574,BMG_DS035525,UMLS ID:C1519872 | DOID:5747 | uterine ligament serous adenocarcinoma | MONDO:0003626 +BMGC_DS09575,BMG_DS035527,DOID:5402 | vaginal adenoma | UMLS ID:C1519913 | MONDO:0003434 +BMGC_DS09576,BMG_DS035528,vaginal adenosarcoma | DOID:4117 | UMLS ID:C1519914 | MONDO:0002881 +BMGC_DS09577,BMG_DS035529,vaginal carcinosarcoma | DOID:136 | MONDO:0006488 | UMLS ID:C1519918 +BMGC_DS09578,BMG_DS035530,UMLS ID:C1519921 | vaginal glandular neoplasm | vaginal glandular tumor | MONDO:0001704 | DOID:134 +BMGC_DS09579,BMG_DS035531,vaginal carcinosarcoma | UMLS ID:C1519924 | DOID:136 +BMGC_DS09580,BMG_DS035533,MONDO:0001806 | UMLS ID:C1519931 | DOID:138 | vaginal squamous tumor +BMGC_DS09581,BMG_DS035534,UMLS ID:C1519933 | vaginal tubulovillous adenoma | MONDO:0004461 | DOID:8104 +BMGC_DS09582,BMG_DS035535,DOID:6613 | MONDO:0003946 | vaginal villous adenoma | UMLS ID:C1519936 +BMGC_DS09583,BMG_DS035536,UMLS ID:C1519982 | DOID:6569 | MONDO:0003929 | vestibular micropapillomatosis | micropapillomatosis labialis +BMGC_DS09584,BMG_DS035537,DOID:5313 | UMLS ID:C1520069 | vulvar alveolar soft part sarcoma | MONDO:0003391 +BMGC_DS09585,BMG_DS035538,MONDO:0004283 | vulvar clear cell hidradenocarcinoma | DOID:7567 | UMLS ID:C1520076 +BMGC_DS09586,BMG_DS035539,DOID:7565 | UMLS ID:C1520081 | MONDO:0004281 | vulvar eccrine porocarcinoma +BMGC_DS09587,BMG_DS035540,vulvar glandular tumor | vulvar glandular neoplasm | DOID:2076 | UMLS ID:C1520082 | MONDO:0002198 +BMGC_DS09588,BMG_DS035542,vulvar inverted follicular keratosis | UMLS ID:C1520084 | MONDO:0006621 | DOID:6943 +BMGC_DS09589,BMG_DS035545,MONDO:0004213 | vulvar non-keratinizing squamous cell carcinoma | UMLS ID:C1520092 | DOID:7409 +BMGC_DS09590,BMG_DS035546,MONDO:0004243 | vulvar proximal-type epithelioid sarcoma | UMLS ID:C1520093 | DOID:7491 +BMGC_DS09591,BMG_DS035547,vulvar sebaceous carcinoma | MONDO:0003636 | UMLS ID:C1520094 | DOID:5761 +BMGC_DS09592,BMG_DS035548,vulvar squamous tumor | UMLS ID:C1520097 | DOID:2072 | MONDO:0002195 | vulvar squamous neoplasm +BMGC_DS09593,BMG_DS035551,Wolffian adnexal tumor | MONDO:0004255 | DOID:7514 | UMLS ID:C1520159 | Wolffian adnexal neoplasm +BMGC_DS09594,BMG_DS035552,Transient ischemic attack (disorder) | Intermittent cerebral ischemia | UMLS ID:C1521728 | Transient cerebral ischaemia | SNOMEDCT ID:38609002 | Transient cerebral ischemia | SNOMEDCT ID:266257000 | Transient ischaemic attack | Intermittent cerebral ischaemia | Intermittent cerebral ischemia (disorder) | TIA - transient ischaemic attack | Temporary cerebral vascular dysfunction | Transient ischemic attack | TIA - transient ischemic attack | SNOMEDCT ID:195206000 | Transient cerebral ischemia (disorder) +BMGC_DS09595,BMG_DS035555,UMLS ID:C1527168 | MeSH ID:D014424 | Bonnevie-Ullrich Syndrome | Bonnevie-Ullrich syndrome | Turner Syndrome | DOID:3491 | Turner syndrome | MONDO:0100492 +BMGC_DS09596,BMG_DS035557,"Calcinosis, Raynaud phenomenon, sclerodactyly, and telangiectasia (CRST) syndrome | Calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia syndrome | CRST syndrome | Calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia syndrome (disorder) | CREST syndrome | Calcinosis, Raynaud's phenomenon, sclerodactyly, telangiectasia syndrome | SNOMEDCT ID:62382002 | Calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia (CRST) syndrome | UMLS ID:C1527226 | CRST - Calcinosis, Raynaud's phenomenon, sclerodactyly, telangiectasia syndrome | Calcinosis cutis, Raynaud's, sclerodactyly AND telangiectasia | DOID:0060218" +BMGC_DS09597,BMG_DS035558,Adrenomyeloneuropathy | adrenomyeloneuropathy | UMLS ID:C1527231 | Schilder-Addison complex | Adrenoleukodystrophy | SNOMEDCT ID:1269423000 | ICD10 ID:E71.522 | MeSH ID:D000326 | MONDO:0015339 | Adrenoleukodystrophy (disorder) | ALD - adrenoleukodystrophy | Adrenomyeloneuropathy (disorder) | AMN - adrenomyeloneuropathy | SNOMEDCT ID:65389002 | Adrenoleucodystrophy | X-linked adrenoleucodystrophy | Siemerling-Creutzfeldt disease | X-linked adrenoleukodystrophy | Adult onset adrenoleukodystrophy | Bronze Schilder disease +BMGC_DS09598,BMG_DS035560,dentin dysplasia type II | OMIM ID:125420 | Dental Pulp Calcification | UMLS ID:C1527284 | MeSH ID:D003784 | MONDO:0007437 | Dental Pulp Stone +BMGC_DS09599,BMG_DS035563,"MeSH ID:D029424 | Chronic Airflow Obstruction | UMLS ID:C1527303 | Pulmonary Disease, Chronic Obstructive" +BMGC_DS09600,BMG_DS035564,Refractive Errors | Ametropia | Disorder of refraction | Disorder of refraction (disorder) | MeSH ID:D012030 | Refractive error | SNOMEDCT ID:39021009 | UMLS ID:C1527310 +BMGC_DS09601,BMG_DS035565,DOID:4724 | UMLS ID:C1527311 | brain edema +BMGC_DS09602,BMG_DS035566,Alpha-Aminoadipic Semialdehyde Deficiency Disease | UMLS ID:C1527317 | Hyperlysinemias | MeSH ID:D020167 +BMGC_DS09603,BMG_DS035568,"MeSH ID:D008575 | Vertigo, Aural | UMLS ID:C1527320 | Meniere Disease" +BMGC_DS09604,BMG_DS035569,Vitamin B 6 Deficiency | MeSH ID:D026681 | UMLS ID:C1527330 | Pyridoxine Deficiency +BMGC_DS09605,BMG_DS035570,"UMLS ID:C1527335 | MeSH ID:D002546 | Transient Ischemic Attack, Anterior Circulation | Ischemic Attack, Transient" +BMGC_DS09606,BMG_DS035571,OMIM ID:270150 | Sjogren's Syndrome | DOID:12894 | UMLS ID:C1527336 | Sjogren's syndrome | Sjogren syndrome | MONDO:0010030 | MeSH ID:D012859 +BMGC_DS09607,BMG_DS035572,"Amyloid Neuropathies, Familial | MeSH ID:D028227 | UMLS ID:C1527337 | Familial Amyloid Polyneuropathy, Appalachian Type" +BMGC_DS09608,BMG_DS035573,"ACys amyloidosis | MeSH ID:D028243 | DOID:9246 | Cerebral Amyloid Angiopathy, Familial | cerebral amyloid angiopathy | MONDO:0007098 | Hereditary Cerebral Amyloid Angiopathy, Icelandic Type | UMLS ID:C1527338 | OMIM ID:105150" +BMGC_DS09609,BMG_DS035574,invasive ductal carcinoma | breast ductal adenocarcinoma | UMLS ID:C1527349 | DOID:3008 | MONDO:0005590 +BMGC_DS09610,BMG_DS035575,Nerve Root Disorder | UMLS ID:C1527351 | MeSH ID:D011843 | Radiculopathy +BMGC_DS09611,BMG_DS035576,Hepatolenticular Degeneration | Hepatic Form of Wilson Disease | MeSH ID:D006527 | UMLS ID:C1527352 +BMGC_DS09612,BMG_DS035577,UMLS ID:C1527353 | MeSH ID:D012019 | Reflex Sympathetic Dystrophy | Algodystrophic Syndrome +BMGC_DS09613,BMG_DS035579,"Dermatitis, Phototoxic | Phototoxicity | UMLS ID:C1527358 | Photosensitization reaction | Photosensitive dermatitis | MeSH ID:D017484 | Phototoxicity (finding) | Photosensitisation reaction | SNOMEDCT ID:84326006" +BMGC_DS09614,BMG_DS035580,"DOID:0050562 | MeSH ID:D013036 | Spasms, Infantile | UMLS ID:C1527366 | West syndrome | Salaam Seizures" +BMGC_DS09615,BMG_DS035581,"necrotizing ulcerative gingivitis | DOID:13924 | MeSH ID:D005892 | UMLS ID:C1527368 | Vincent Angina | Gingivitis, Necrotizing Ulcerative" +BMGC_DS09616,BMG_DS035582,MeSH ID:D005348 | Cystic Breast Disease | UMLS ID:C1527375 | Fibrocystic Breast Disease +BMGC_DS09617,BMG_DS035583,"Morphoea | UMLS ID:C1527383 | Morphea (disorder) | MeSH ID:D012594 | Scleroderma, Localized | SNOMEDCT ID:201049004 | SNOMEDCT ID:90424004 | Localized scleroderma | Morphea | SNOMEDCT ID:156452007 | Morphoea (disorder) | Localised scleroderma | Localized scleroderma (disorder)" +BMGC_DS09618,BMG_DS035586,UMLS ID:C1527395 | MeSH ID:D003112 | Colonic Pseudo-Obstruction | Ogilvie Syndrome +BMGC_DS09619,BMG_DS035587,Fibrocystic Disease of Pancreas | Cystic Fibrosis | MeSH ID:D003550 | UMLS ID:C1527396 +BMGC_DS09620,BMG_DS035590,Senile arthritis | Forestier-Certonciny syndrome | Polymyalgia rheumatica (disorder) | Polymyalgia rheumatica | PMR - Polymyalgia rheumatica | UMLS ID:C1527406 | Rhizomelic pseudopolyarthritis | SNOMEDCT ID:65323003 +BMGC_DS09621,BMG_DS035591,MeSH ID:D011657 | Pulmonary Eosinophilia | MONDO:0005749 | Eosinophilic Pneumonia | UMLS ID:C1527407 | DOID:5870 | eosinophilic pneumonia +BMGC_DS09622,BMG_DS035592,"Renal bone disease | OMIM ID:MTHU038299 | Renal rickets (disorder) | ROD - Renal osteodystrophy | SNOMEDCT ID:197667002 | ICD11 ID:GB61.Z | Renal rickets | SNOMEDCT ID:16726004 | UMLS ID:C1527410 | ICD10 ID:N25.0 | Chronic kidney disease, stage unspecified | Renal osteodystrophy | Renal osteodystrophy (disorder)" +BMGC_DS09623,BMG_DS035593,UMLS ID:C1527411 | Thrombosis of retinal vein (disorder) | Retinal vein thrombosis | Thrombosis of retinal vein | SNOMEDCT ID:46085004 +BMGC_DS09624,BMG_DS035594,adenocarcinoma of skene gland origin | MONDO:0004173 | DOID:7284 | Skene gland carcinoma | UMLS ID:C1527427 +BMGC_DS09625,BMG_DS035616,atherosclerosis susceptibility | UMLS ID:C1531719 | OMIM ID:108725 | MONDO:0007169 +BMGC_DS09626,BMG_DS035618,SNOMEDCT ID:413936007 | DOID:0111546 | UMLS ID:C1531773 | MONDO:0008305 | Currarino syndrome | Currarino triad | OMIM ID:176450 | Currarino triad (disorder) | MeSH ID:C536221 +BMGC_DS09627,BMG_DS035650,Disorder of immune function | Disorder of immune function (disorder) | SNOMEDCT ID:414029004 | Immune system disorder | UMLS ID:C1532237 +BMGC_DS09628,BMG_DS035662,UMLS ID:C1532322 | MeSH ID:D009877 | Infectious Endophthalmitis | Endophthalmitis +BMGC_DS09629,BMG_DS035708,primary congenital glaucoma | OMIM ID:MTHU073627 | SNOMEDCT ID:415176004 | UMLS ID:C1533041 | Primary infantile glaucoma | Primary congenital glaucoma (disorder) | Primary congenital glaucoma | MONDO:0000365 +BMGC_DS09630,BMG_DS035720,Chronic ischaemic heart disease | UMLS ID:C1533195 | Chronic myocardial ischemia (disorder) | Chronic coronary insufficiency | Chronic ischemic heart disease | SNOMEDCT ID:413844008 | Chronic myocardial ischemia | Chronic ischemic heart disease (disorder) | Chronic myocardial ischaemia | SNOMEDCT ID:84537008 +BMGC_DS09631,BMG_DS035723,beta-ketothiolase deficiency | 3-Ketoacyl-CoA thiolase deficiency | UMLS ID:C1533628 | DOID:14723 | SNOMEDCT ID:238067002 | Pseudo-Zellweger syndrome | Peroxisomal thiolase deficiency | MeSH ID:C535818 | Peroxisomal thiolase deficiency (disorder) +BMGC_DS09632,BMG_DS035730,skeletal muscle disorder | Disorder of skeletal muscle (disorder) | MONDO:0020120 | Disease of skeletal muscle | Disorder of skeletal muscle | UMLS ID:C1533847 | SNOMEDCT ID:128615009 | SNOMEDCT ID:75047002 +BMGC_DS09633,BMG_DS035732,Gingival haemorrhage | Gingival crevicular bleeding | Gingival hemorrhage | Gingival crevice bleeding | Bleeding gums | Crevicular bleeding of gum | Bleeding gums (finding) | Bleeding of subgingival space (disorder) | SNOMEDCT ID:86276007 | Gingival bleeding | SNOMEDCT ID:109616007 | Bleeding of subgingival space | UMLS ID:C1533849 +BMGC_DS09634,BMG_DS036050,UMLS ID:C1535893 | neurocirculatory asthenia | MONDO:0001315 +BMGC_DS09635,BMG_DS036052,MONDO:0700092 | UMLS ID:C1535926 | neurodevelopmental disorder +BMGC_DS09636,BMG_DS036053,MONDO:0019121 | UMLS ID:C1535939 | DOID:11339 | pneumocystosis +BMGC_DS09637,BMG_DS036054,"UMLS ID:C1535942 | autoimmune polyendocrinopathy type 3 | MeSH ID:D016884 | Polyglandular Type III Autoimmune Syndrome | Polyendocrinopathies, Autoimmune | MONDO:0016422" +BMGC_DS09638,BMG_DS036058,MeSH ID:D064806 | UMLS ID:C1536021 | Dysbacteriosis | Dysbiosis +BMGC_DS09639,BMG_DS036069,UMLS ID:C1536451 | Central areolar choroidal sclerosis | MONDO:0008982 | SNOMEDCT ID:231996009 | Central areolar choroidal dystrophy | MeSH ID:C535358 | Central areolar choroidal sclerosis (disorder) | central areolar choroidal dystrophy +BMGC_DS09640,BMG_DS036080,3-Methylhydroxybutyric acidemia | Acetoacetyl-CoA thiolase deficiency | MONDO:0008760 | 3-Methylhydroxybutyric acidaemia | Deficiency of acetyl-coenzyme A acetyltransferase (disorder) | beta-ketothiolase deficiency | UMLS ID:C1536500 | alpha-Methylacetoacetic aciduria | OMIM ID:203750 | Deficiency of acetoacetyl-CoA thiolase | Deficiency of acetyl-coenzyme A acetyltransferase | 3-Ketothiolase deficiency | SNOMEDCT ID:124258007 | Deficiency of acetyl-CoA acetyltransferase +BMGC_DS09641,BMG_DS036144,"Chronic obstructive pulmonary disease | Chronic obstructive airway disease | CAO - Chronic airflow obstruction | Chronic airflow obstruction | COLD - Chronic obstructive lung disease | CAFL - Chronic airflow limitation | Chronic airway disease | COPD - Chronic obstructive pulmonary disease | CAL - Chronic airflow limitation | Chronic obstructive lung disease, NEC | Chronic airway obstruction | UMLS ID:C1537189 | Chronic irreversible airway obstruction | COAD - Chronic obstructive airways disease | SNOMEDCT ID:13645005 | Chronic airflow limitation | Chronic obstructive pulmonary disease (disorder) | Chronic obstructive lung disease" +BMGC_DS09642,BMG_DS036273,Pyloric obstruction (disorder) | UMLS ID:C1541124 | Gastric outflow obstruction | SNOMEDCT ID:302917004 | Pyloric obstruction | SNOMEDCT ID:244815007 +BMGC_DS09643,BMG_DS036363,Bacterial endocarditis (disorder) | Infective endocarditis | infective endocarditis | MONDO:0000565 | Bacterial endocarditis | UMLS ID:C1541923 | SNOMEDCT ID:233850007 | Infective endocarditis (disorder) | IE - Infective endocarditis | SNOMEDCT ID:50194006 +BMGC_DS09644,BMG_DS036424,Fanconi anemia | Pancytopenia-dysmelia syndrome | Fanconi anaemia | UMLS ID:C1542664 | Fanconi's anaemia | Fanconi's anemia (disorder) | Fanconi pancytopenia syndrome | SNOMEDCT ID:30575002 | Fanconi's hypoplastic anemia | Fanconi's familial refractory anemia | Fanconi's hypoplastic anaemia | Fanconi's anemia | Fanconi's familial refractory anaemia +BMGC_DS09645,BMG_DS036496,"MONDO:0005300 | UMLS ID:C1561643 | Renal Insufficiency, Chronic | chronic kidney disease | Chronic Kidney Diseases | MeSH ID:D051436" +BMGC_DS09646,BMG_DS036497,Overweight and obesity | ICD10 ID:E66 | UMLS ID:C1561826 +BMGC_DS09647,BMG_DS036499,Anaemia co-occurrent and due to chronic kidney disease | Anemia in chronic kidney disease | SNOMEDCT ID:707323002 | UMLS ID:C1561828 | Anaemia in chronic kidney disease | Anemia co-occurrent and due to chronic kidney disease (disorder) | ICD10 ID:D63.1 | Anemia co-occurrent and due to chronic kidney disease +BMGC_DS09648,BMG_DS036533,UMLS ID:C1562113 | Fleck corneal dystrophy | DOID:0060448 | OMIM ID:121850 | MONDO:0007376 | fleck corneal dystrophy | Fleck corneal dystrophy (disorder) | SNOMEDCT ID:417183007 +BMGC_DS09649,BMG_DS036559,Ocular histoplasmosis syndrome | UMLS ID:C1562543 | SNOMEDCT ID:416770009 | Ocular histoplasmosis syndrome (disorder) | OHS-ocular histoplasmosis syndrome +BMGC_DS09650,BMG_DS036560,"MONDO:0041751 | MeSH ID:D056006 | UMLS ID:C1562585 | Leprosy, Multibacillary | multibacillary leprosy" +BMGC_DS09651,BMG_DS036566,SNOMEDCT ID:417017003 | Acute cerebellar syndrome | Acute cerebellar syndrome (disorder) | UMLS ID:C1562722 +BMGC_DS09652,BMG_DS036574,Twin reversal arterial perfusion syndrome | SNOMEDCT ID:417006004 | MONDO:0041755 | Twin reversal arterial perfusion syndrome (disorder) | TRAP- twin reversal arterial perfusion syndrome | twin reversal arterial perfusion syndrome | UMLS ID:C1562817 +BMGC_DS09653,BMG_DS036581,"Thiel-Behnke corneal dystrophy (disorder) | DOID:0060455 | MONDO:0011185 | Thiel-Behnke corneal dystrophy | OMIM ID:602082 | CDB type II-Corneal dystrophy of Bowman's membrane, type II | SNOMEDCT ID:417065002 | MeSH ID:C535942 | UMLS ID:C1562894" +BMGC_DS09654,BMG_DS036584,"MONDO:0041752 | Leprosy, Paucibacillary | MeSH ID:D056005 | paucibacillary leprosy | UMLS ID:C1562908" +BMGC_DS09655,BMG_DS036592,Dapsone resistant leprosy (disorder) | SNOMEDCT ID:416597004 | Dapsone resistant leprosy | Diaminodiphenylsulphone resistant leprosy | UMLS ID:C1563054 | Dapsone resistant mycobacterium leprae | Diaminodiphenylsulfone resistant leprosy +BMGC_DS09656,BMG_DS036624,MeSH ID:D049914 | DNA Repair-Deficiency Disorders | UMLS ID:C1563696 +BMGC_DS09657,BMG_DS036625,MeSH ID:D049914 | UMLS ID:C1563697 | DNA Repair-Deficiency Disorders | Chromosome Instability Syndromes +BMGC_DS09658,BMG_DS036626,"diabetes insipidus, nephrogenic, X-linked | OMIM ID:304800 | UMLS ID:C1563705 | Nephrogenic Diabetes Insipidus, Type I | MONDO:0010581 | Diabetes Insipidus, Nephrogenic | MeSH ID:D018500" +BMGC_DS09659,BMG_DS036627,"UMLS ID:C1563706 | OMIM ID:125800 | diabetes insipidus, nephrogenic, autosomal | Nephrogenic Diabetes Insipidus, Type II | MeSH ID:D018500 | Diabetes Insipidus, Nephrogenic | MONDO:0007451" +BMGC_DS09660,BMG_DS036628,MeSH ID:D049970 | UMLS ID:C1563709 | Graves Ophthalmopathy | Graves ophthalmopathy | DOID:0081120 | Myopathic Ophthalmopathy +BMGC_DS09661,BMG_DS036629,OMIM ID:170390 | Andersen Syndrome | DOID:0050434 | MONDO:0008222 | MeSH ID:D050030 | Andersen-Tawil syndrome | UMLS ID:C1563715 +BMGC_DS09662,BMG_DS036630,Genital Infantilism | MeSH ID:D050035 | Sexual Infantilism | UMLS ID:C1563718 +BMGC_DS09663,BMG_DS036631,MeSH ID:D017436 | Kallmann Syndrome 1 | hypogonadotropic hypogonadism 1 with or without anosmia | MONDO:0010635 | Kallmann Syndrome | UMLS ID:C1563719 | OMIM ID:308700 +BMGC_DS09664,BMG_DS036632,MeSH ID:D017436 | MONDO:0007844 | Kallmann Syndrome 2 | OMIM ID:147950 | Kallmann Syndrome | UMLS ID:C1563720 | hypogonadotropic hypogonadism 2 with or without anosmia +BMGC_DS09665,BMG_DS036635,"UMLS ID:C1565106 | MeSH ID:D051270 | Headache Disorders, Primary" +BMGC_DS09666,BMG_DS036639,MeSH ID:D005767 | UMLS ID:C1565321 | Gastrointestinal Diseases | Cholera Infantum +BMGC_DS09667,BMG_DS036640,MeSH ID:D051437 | UMLS ID:C1565489 | Renal Insufficiency +BMGC_DS09668,BMG_DS036641,Acute Kidney Insufficiency | acute kidney failure | UMLS ID:C1565662 | DOID:3021 | MeSH ID:D058186 | Acute Kidney Injury +BMGC_DS09669,BMG_DS036642,"UMLS ID:C1565885 | MeSH ID:D051556 | Direct Hyperbilirubinemia, Neonatal | Hyperbilirubinemia, Neonatal" +BMGC_DS09670,BMG_DS036643,"UMLS ID:C1565886 | Indirect Hyperbilirubinemia, Neonatal | MeSH ID:D051556 | Hyperbilirubinemia, Neonatal" +BMGC_DS09671,BMG_DS036645,DOID:4211 | UMLS ID:C1565950 | posterior cranial fossa meningioma | MONDO:0002919 | posterior fossa meningioma +BMGC_DS09672,BMG_DS036646,"MONDO:0006584 | Icterus Gravis Neonatorum | obsolete neonatal jaundice | UMLS ID:C1566050 | MeSH ID:D007567 | Jaundice, Neonatal" +BMGC_DS09673,BMG_DS036647,"MeSH ID:D005322 | Preterm Premature Rupture of Fetal Membranes | Fetal Membranes, Premature Rupture | UMLS ID:C1566302" +BMGC_DS09674,BMG_DS036648,UMLS ID:C1567426 | Unilateral Multicystic Dysplastic Kidney | MeSH ID:D021782 | unilateral multicystic dysplastic kidney | MONDO:0019981 | Multicystic Dysplastic Kidney +BMGC_DS09675,BMG_DS036649,"Nephritis, Hereditary | UMLS ID:C1567741 | Alport syndrome | MONDO:0018965 | MeSH ID:D009394 | Alport Syndrome" +BMGC_DS09676,BMG_DS036650,"UMLS ID:C1567742 | Nephritis, Hereditary | MeSH ID:D009394 | Alport Syndrome, X-Linked" +BMGC_DS09677,BMG_DS036651,"Alport Syndrome, Autosomal Dominant | Nephritis, Hereditary | MeSH ID:D009394 | UMLS ID:C1567743" +BMGC_DS09678,BMG_DS036652,"Nephritis, Hereditary | MeSH ID:D009394 | Alport Syndrome, Autosomal Recessive | UMLS ID:C1567744" +BMGC_DS09679,BMG_DS036653,Usher syndrome type 1 | MONDO:0010168 | UMLS ID:C1568247 +BMGC_DS09680,BMG_DS036654,"Usher Syndrome, Type III | Usher Syndromes | Usher syndrome type 3 | Usher syndrome type 2 | DOID:0110829;DOID:0110827;DOID:0110828 | MONDO:0016485 | MeSH ID:D052245 | UMLS ID:C1568248 | retinitis pigmentosa-deafness syndrome" +BMGC_DS09681,BMG_DS036655,"Usher Syndromes | Usher syndrome type 2D | Usher syndrome type 3 | DOID:0110827;DOID:0110828 | OMIM ID:611383 | Usher syndrome type 2 | MeSH ID:D052245 | Usher Syndrome, Type II | UMLS ID:C1568249 | MONDO:0012662" +BMGC_DS09682,BMG_DS036656,Tendinopathy | MeSH ID:D052256 | UMLS ID:C1568272 +BMGC_DS09683,BMG_DS036657,SNOMEDCT ID:724152009 | Tendinosis | MeSH ID:D052256 | Tendinosis (disorder) | UMLS ID:C1568363 | MONDO:0100011 | SNOMEDCT ID:430671000124105 | Tendinosis (finding) | tendinosis | Tendinopathy +BMGC_DS09684,BMG_DS036658,Oral Mucositis | UMLS ID:C1568868 | MeSH ID:D013280 | Stomatitis +BMGC_DS09685,BMG_DS036762,(Acidemia: [renal] or [renotubular]) or other impaired renal function disorder NOS | Other impaired renal function disorder NOS | Renal tubular acidosis | Renal acidaemia | Renal tubular acidosis (disorder) | Renotubular acidaemia | Renal acidemia | Renotubular acidemia | UMLS ID:C1578594 | (Acidaemia: [renal] or [renotubular]) or other impaired renal function disorder NOS (disorder) | SNOMEDCT ID:197673001 | SNOMEDCT ID:1776003 | RTA - Renal tubular acidosis | (Acidaemia: [renal] or [renotubular]) or other impaired renal function disorder NOS +BMGC_DS09686,BMG_DS036782,Bacterial vaginosis | SNOMEDCT ID:266655004 | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) | Vaginitis - non sp. | Vaginitis/vulvovaginitis | Vulvo-vaginitis | Vulvitis - non sp. | UMLS ID:C1578688 | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) (disorder) | Vulvovaginitis | SNOMEDCT ID:155981006 +BMGC_DS09687,BMG_DS036785,"UMLS ID:C1578691 | Myxedema, Congenital | MeSH ID:D003409 | Congenital Hypothyroidism" +BMGC_DS09688,BMG_DS036825,MONDO:0007834 | islet cell adenomatosis | OMIM ID:147630 | UMLS ID:C1578917 +BMGC_DS09689,BMG_DS036844,"Renal failure (chronic) | Renal failure: [chronic] or [end stage] | Renal failure - chronic | Chronic renal failure syndrome (disorder) | Chronic renal failure | SNOMEDCT ID:197654000 | SNOMEDCT ID:90688005 | Chronic uremia (disorder) | Uraemia - chronic | Uremia - chronic | SNOMEDCT ID:35533001 | UMLS ID:C1579029 | SNOMEDCT ID:155856009 | Chronic uraemia | End stage renal failure | Chronic uremia | Failure, renal -chronic | CRF - Chronic renal failure | Chronic renal failure syndrome | Renal failure: [chronic] or [end stage] (disorder)" +BMGC_DS09690,BMG_DS036923,megacystis-microcolon-intestinal hypoperistalsis syndrome | UMLS ID:C1608393 | MONDO:0025986 | Megacystis microcolon intestinal hypoperistalsis syndrome | DOID:0060610 | MeSH ID:C536138 +BMGC_DS09691,BMG_DS036927,"Mycobacterium abscessus Infection | MeSH ID:D009165 | Mycobacterium Infections, Nontuberculous | UMLS ID:C1608955" +BMGC_DS09692,BMG_DS036929,Potter syndrome | BRA - Bilateral renal agenesis | Oligohydramnios sequence (disorder) | Oligohydramnios sequence | Potter's anomaly of the kidney | Congenital absence of kidneys syndrome | Renofacial syndrome | Renal agenesis syndrome | SNOMEDCT ID:41962002 | bilateral renal agenesis | MONDO:0015986 | Bilateral congenital absence of kidneys | UMLS ID:C1609433 +BMGC_DS09693,BMG_DS036931,UMLS ID:C1609538 | MONDO:0040753 | latent tuberculosis infection | Latent Tuberculosis | MeSH ID:D055985 +BMGC_DS09694,BMG_DS036943,MeSH ID:D054989 | Nephrogenic Fibrosing Dermopathy | UMLS ID:C1619692 +BMGC_DS09695,BMG_DS036944,UMLS ID:C1619700 | OMIM ID:191830 | MONDO:0024519 | renal hypodysplasia/aplasia 1 +BMGC_DS09696,BMG_DS036945,UMLS ID:C1619727 | SNOMEDCT ID:716203000 | Decompensated cirrhosis of liver (disorder) | Decompensated cirrhosis | Decompensated cirrhosis of liver +BMGC_DS09697,BMG_DS036946,ICD10 ID:M10 | UMLS ID:C1619733 | Gout flare +BMGC_DS09698,BMG_DS036953,SNOMEDCT ID:69886008 | Incomplete heart block | Second degree heart block | UMLS ID:C1621824 | Incomplete atrioventricular block | SNOMEDCT ID:195039008 | SNOMEDCT ID:155356003 | Partial atrioventricular block | Partial heart block | Incomplete atrioventricular block (disorder) | Partial atrioventricular block (disorder) +BMGC_DS09699,BMG_DS036955,Adrenal hyperplasia | SNOMEDCT ID:419920004 | UMLS ID:C1621895 | OMIM ID:MTHU014670 | Adrenal hyperplasia (disorder) +BMGC_DS09700,BMG_DS036956,MeSH ID:D008375 | intermediate maple syrup urine disease | MONDO:0017052 | Intermediate Maple Syrup Urine Disease | Maple Syrup Urine Disease | UMLS ID:C1621920 +BMGC_DS09701,BMG_DS036957,UMLS ID:C1622345 | OMIM ID:105120 | Meretoja syndrome (disorder) | MONDO:0007097 | Finnish type amyloidosis | SNOMEDCT ID:419398009 | Amyloid cranial neuropathy with lattice corneal dystrophy | Meretoja syndrome | MeSH ID:C537459 | Meretoja type amyloidosis +BMGC_DS09702,BMG_DS036959,"central cloudy dystrophy of François | UMLS ID:C1622427 | MONDO:0009018 | Corneal Dystrophy, Central Type | OMIM ID:217600 | MeSH ID:C563262" +BMGC_DS09703,BMG_DS036963,Cirrhosis | UMLS ID:C1623038 | Fibrosis | MeSH ID:D005355 +BMGC_DS09704,BMG_DS036964,MONDO:0011812 | Duane-radial ray syndrome | Duane Retraction Syndrome | Okihiro Syndrome | MeSH ID:D004370 | OMIM ID:607323 | UMLS ID:C1623209 +BMGC_DS09705,BMG_DS036995,"OMIM ID:604772 | catecholaminergic polymorphic ventricular tachycardia 1 | UMLS ID:C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | OMIM ID:600996 | MONDO:0011484" +BMGC_DS09706,BMG_DS036996,SNOMEDCT ID:418171008 | Complicated appendicitis (disorder) | UMLS ID:C1632842 | Complicated appendicitis +BMGC_DS09707,BMG_DS037005,"MeSH ID:C537834 | macular corneal dystrophy | UMLS ID:C1636149 | OMIM ID:217800 | MONDO:0009020 | Macular dystrophy, corneal type 1" +BMGC_DS09708,BMG_DS037026,Groenouw corneal dystrophy type I (disorder) | Granular corneal dystrophy type I | Groenouw corneal dystrophy type I | UMLS ID:C1641846 | Granular corneal dystrophy type I (disorder) | OMIM ID:121900 | MONDO:0007377 | granular corneal dystrophy type I | SNOMEDCT ID:419039007 +BMGC_DS09709,BMG_DS037035,MeSH ID:C563268 | ectopia lentis et pupillae | DOID:0111648 | Ectopia Lentis with Ectopia of Pupil | OMIM ID:225200 | UMLS ID:C1644196 | MONDO:0009153 | ectopia lentis with ectopia of pupil +BMGC_DS09710,BMG_DS037038,early-onset schizophrenia | MONDO:0019939 | UMLS ID:C1656427 +BMGC_DS09711,BMG_DS037057,Intraoperative floppy iris syndrome | Intraoperative floppy iris syndrome (disorder) | UMLS ID:C1688637 | SNOMEDCT ID:418801006 | intraoperative floppy iris syndrome | MONDO:0041775 | IFIS - intraoperative floppy iris syndrome +BMGC_DS09712,BMG_DS037063,Lattice corneal dystrophy Type I | OMIM ID:122200 | lattice corneal dystrophy type I | Lattice corneal dystrophy Type I (disorder) | SNOMEDCT ID:419197009 | UMLS ID:C1690006 | MONDO:0007380 | Biber-Haab-Dimmer dystrophy +BMGC_DS09713,BMG_DS037073,Macular corneal dystrophy Type II | SNOMEDCT ID:418435001 | Macular corneal dystrophy Type II (disorder) | UMLS ID:C1691013 +BMGC_DS09714,BMG_DS037077,"UMLS ID:C1691228 | MeSH ID:D052177 | Kidney Diseases, Cystic | Cystic Kidney Diseases" +BMGC_DS09715,BMG_DS037084,"MONDO:0004471 | Arthritis, Bacterial | bacterial arthritis | MeSH ID:D001170 | Arthritis, Infectious | UMLS ID:C1692886" +BMGC_DS09716,BMG_DS037088,UMLS ID:C1696371 | Bacterial tonsillitis (disorder) | Bacterial tonsillitis | SNOMEDCT ID:703468005 +BMGC_DS09717,BMG_DS037092,Spontaneous hematomas | UMLS ID:C1697453 | OMIM ID:MTHU047994 +BMGC_DS09718,BMG_DS037093,Kidney disease caused by BK polyomavirus | Nephropathy caused by BK polyomavirus | Polyomavirus-associated nephropathy | SNOMEDCT ID:713886006 | UMLS ID:C1697878 | MONDO:0022529 | DOID:0040086 | BK virus nephropathy | Nephropathy caused by BK polyomavirus (disorder) | BK-virus nephropathy +BMGC_DS09719,BMG_DS037096,Bacterial otitis media (disorder) | UMLS ID:C1698510 | Bacterial otitis media | SNOMEDCT ID:703469002 +BMGC_DS09720,BMG_DS037097,SNOMEDCT ID:280221000009107 | UMLS ID:C1699099 | Bacterial otitis externa | Otitis externa caused by bacteria | Otitis externa caused by bacteria (disorder) +BMGC_DS09721,BMG_DS037099,"Pneumonia, Ventilator-Associated | MeSH ID:D053717 | UMLS ID:C1701940" +BMGC_DS09722,BMG_DS037104,neoplastic meningitis | UMLS ID:C1704231 | MONDO:0700219 +BMGC_DS09723,BMG_DS037106,benign prostatic hyperplasia | MONDO:0010811 | UMLS ID:C1704272 | OMIM ID:600082 +BMGC_DS09724,BMG_DS037109,MeSH ID:D052880 | Tropical myositis | UMLS ID:C1704275 | Tropical pyomyositis (disorder) | Pyomyositis | SNOMEDCT ID:65110003 | Tropical pyomyositis +BMGC_DS09725,BMG_DS037110,"MeSH ID:D052476 | UMLS ID:C1704299 | Hypobetalipoproteinemia, Familial, Apolipoprotein B" +BMGC_DS09726,BMG_DS037111,Keratotic plaque | Leukokeratosis (morphologic abnormality) | Leukokeratosis (disorder) | MeSH ID:D007971 | SNOMEDCT ID:9187004 | UMLS ID:C1704317 | Leukoplakia | Leucokeratosis | Leukokeratosis | SNOMEDCT ID:773540001 +BMGC_DS09727,BMG_DS037112,"MeSH ID:D009402 | Nephrosis, Lipoid | UMLS ID:C1704321 | Nephrotic Syndrome, Minimal Change" +BMGC_DS09728,BMG_DS037116,Dental Diseases | Stomatognathic Diseases | UMLS ID:C1704330 | MeSH ID:D009057 +BMGC_DS09729,BMG_DS037117,"Rickets, Hypophosphatemic | MONDO:0024300 | MeSH ID:D063730 | Hypophosphatemic Rickets | UMLS ID:C1704375 | hypophosphatemic rickets" +BMGC_DS09730,BMG_DS037119,MeSH ID:D005921 | UMLS ID:C1704377 | Bright Disease | Glomerulonephritis +BMGC_DS09731,BMG_DS037120,"Glomerulonephritis, Membranous | Heymann Nephritis | MeSH ID:D015433 | UMLS ID:C1704378" +BMGC_DS09732,BMG_DS037121,"distal renal tubular acidosis | Acidosis, Renal Tubular | UMLS ID:C1704380 | MONDO:0015827 | Distal Renal Tubular Acidosis | MeSH ID:D000141" +BMGC_DS09733,BMG_DS037123,"MONDO:0007751 | MeSH ID:D006938 | UMLS ID:C1704417 | Hyperlipoproteinemia Type IIb | hypercholesterolemia, autosomal dominant, type B | Hyperlipoproteinemia Type II | OMIM ID:144010" +BMGC_DS09734,BMG_DS037125,MONDO:0007919 | Lymphedema | lymphatic malformation 1 | Milroy Disease | OMIM ID:153100 | hereditary lymphedema I | MeSH ID:D008209 | DOID:0070212 | UMLS ID:C1704423 +BMGC_DS09735,BMG_DS037126,SNOMEDCT ID:400040008 | Hereditary lymphoedema type II | hereditary lymphedema II | Hereditary lymphedema type II (disorder) | Hereditary lymphedema type II | Meige lymphedema | UMLS ID:C1704424 | Meige lymphoedema | Meige disease | DOID:0070213 +BMGC_DS09736,BMG_DS037128,"Hypoalphalipoproteinemias | Hypoalphalipoproteinemia, Familial | MeSH ID:D052456 | UMLS ID:C1704429" +BMGC_DS09737,BMG_DS037129,Urinary Schistosomiasis | Schistosomiasis haematobia | urinary schistosomiasis | MeSH ID:D012553 | MONDO:0006001 | UMLS ID:C1704430 +BMGC_DS09738,BMG_DS037130,MeSH ID:D058729 | peripheral arterial disease | Peripheral Arterial Disease | Peripheral Arterial Diseases | peripheral artery disease | MONDO:0005386 | DOID:0050830 | UMLS ID:C1704436 +BMGC_DS09739,BMG_DS037133,OMIM ID:145001 | MONDO:0007768 | Hyperparathyroidism-Jaw Tumor Syndrome | MeSH ID:C563273 | hyperparathyroidism 2 with jaw tumors | UMLS ID:C1704981 +BMGC_DS09740,BMG_DS037141,"DOID:0050449 | UMLS ID:C1706595 | Pachyonychia Congenita | OMIM ID:167200 | Pachyonychia Congenita, Jadassohn Lewandowsky Type | pachyonychia congenita 1 | pachyonychia congenita | MeSH ID:D053549 | MONDO:0008173" +BMGC_DS09741,BMG_DS037142,MONDO:0003899 | adult myxoid chondrosarcoma | DOID:7902 | UMLS ID:C1706731 | adult extraskeletal myxoid chondrosarcoma +BMGC_DS09742,BMG_DS037143,MONDO:0016505 | aldosterone-producing adrenal cortex adenoma | UMLS ID:C1706762 +BMGC_DS09743,BMG_DS037147,MONDO:0005563 | UMLS ID:C1707291 | nut midline carcinoma | NUT midline carcinoma | DOID:0060463 +BMGC_DS09744,BMG_DS037150,classic medulloblastoma | UMLS ID:C1707400 | MONDO:0016712 +BMGC_DS09745,BMG_DS037164,UMLS ID:C1708349 | hereditary diffuse gastric adenocarcinoma | MONDO:0007648 +BMGC_DS09746,BMG_DS037165,hereditary leiomyomatosis and renal cell cancer | MONDO:0007888 | OMIM ID:150800 | UMLS ID:C1708350 +BMGC_DS09747,BMG_DS037166,hereditary pheochromocytoma-paraganglioma | UMLS ID:C1708353 | MONDO:0017366 +BMGC_DS09748,BMG_DS037168,OMIM ID:500000 | MONDO:0010771 | UMLS ID:C1708371 | histiocytoid cardiomyopathy +BMGC_DS09749,BMG_DS037177,UMLS ID:C1708781 | MONDO:0006279 | lung sarcomatoid carcinoma +BMGC_DS09750,BMG_DS037185,Osteofibrous Dysplasia | MeSH ID:C563276 | UMLS ID:C1709353 +BMGC_DS09751,BMG_DS037198,sinonasal undifferentiated carcinoma | MONDO:0006411 | UMLS ID:C1710096 +BMGC_DS09752,BMG_DS037203,OMIM ID:182950 | MeSH ID:C531624 | UMLS ID:C1710146 | MONDO:0008450 | spinal arachnoiditis | Familial spinal arachnoiditis +BMGC_DS09753,BMG_DS037208,DOID:0070327 | MONDO:0850110 | melanoma in congenital melanocytic nevus | UMLS ID:C1711221 +BMGC_DS09754,BMG_DS037220,SNOMEDCT ID:433493000 | Acquired torsion dystonia | Acquired torsion dystonia (disorder) | MONDO:0044870 | acquired torsion dystonia | UMLS ID:C1719382 +BMGC_DS09755,BMG_DS037224,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,MONDO:0008047 | Episodic ataxia type 1 | episodic ataxia type 1 | Episodic ataxia type 1 (EA1) | UMLS ID:C1719788 | SNOMEDCT ID:421182009 | Episodic ataxia type 1 (disorder) | OMIM ID:160120 +BMGC_DS09758,BMG_DS037279,SNOMEDCT ID:420585007 | Meningitis caused by Klebsiella mobilis | Meningitis caused by Aerobacter aerogenes | Meningitis caused by Enterobacter aerogenes | Meningitis caused by Klebsiella aerogenes (disorder) | UMLS ID:C1719906 | Meningitis caused by Klebsiella aerogenes +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 II diabetes mellitus | SNOMEDCT ID:422014003 +BMGC_DS09760,BMG_DS037305,Gastrointestinal infection caused by Klebsiella mobilis | UMLS ID:C1720135 | SNOMEDCT ID:421429008 | Gastrointestinal infection caused by Enterobacter aerogenes | Gastrointestinal infection caused by Klebsiella aerogenes (disorder) | Gastrointestinal infection caused by Klebsiella aerogenes | Gastrointestinal infection caused by Aerobacter aerogenes +BMGC_DS09761,BMG_DS037309,SNOMEDCT ID:422127002 | UMLS ID:C1720144 | Herpes zoster with acquired immunodeficiency syndrome | Herpes zoster with acquired immunodeficiency syndrome (disorder) | Herpes zoster with AIDS (acquired immunodeficiency syndrome) +BMGC_DS09762,BMG_DS037318,MeSH ID:C580065 | MONDO:0016227 | hereditary episodic ataxia | DOID:963 | Episodic Ataxia | UMLS ID:C1720189 | episodic ataxia +BMGC_DS09763,BMG_DS037342,"Episodic Ataxia, Type 2 | MeSH ID:C535506 | DOID:0050990 | OMIM ID:108500 | UMLS ID:C1720416 | MONDO:0007163 | episodic ataxia type 2" +BMGC_DS09764,BMG_DS037352,Toxoplasmosis associated with acquired immunodeficiency syndrome (disorder) | Toxoplasmosis associated with AIDS | Toxoplasmosis associated with acquired immunodeficiency syndrome | UMLS ID:C1720498 | SNOMEDCT ID:421666009 +BMGC_DS09765,BMG_DS037353,Adult growth hormone deficiency | UMLS ID:C1720505 | Adult growth hormone deficiency (disorder) | SNOMEDCT ID:421684006 +BMGC_DS09766,BMG_DS037381,UMLS ID:C1720771 | MONDO:0004920 | hydrocele +BMGC_DS09767,BMG_DS037382,MeSH ID:D007009 | UMLS ID:C1720772 | Hypolipoproteinemias | Hypoprebetalipoproteinemia +BMGC_DS09768,BMG_DS037383,MeSH ID:D007673 | Kidney Cortex Necrosis | Glomerular Necrosis | UMLS ID:C1720774 +BMGC_DS09769,BMG_DS037385,familial apolipoprotein C-II deficiency | UMLS ID:C1720779 | MONDO:0008810 | DOID:0111418 | OMIM ID:207750 +BMGC_DS09770,BMG_DS037386,"MeSH ID:D008586 | Meningitis, Pneumococcal | UMLS ID:C1720785 | Meningitis, Pneumococcal, Recurrent" +BMGC_DS09771,BMG_DS037387,Prostatitis | Acute Bacterial Prostatitis | MeSH ID:D011472 | UMLS ID:C1720795 +BMGC_DS09772,BMG_DS037388,Prostatitis | UMLS ID:C1720796 | Asymptomatic Inflammatory Prostatitis | MeSH ID:D011472 +BMGC_DS09773,BMG_DS037389,Prostatitis | MeSH ID:D011472 | UMLS ID:C1720797 | Chronic Bacterial Prostatitis +BMGC_DS09774,BMG_DS037390,"Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency | Refsum Disease | MeSH ID:D012035 | UMLS ID:C1720802" +BMGC_DS09775,BMG_DS037392,Endometrial Diseases | UMLS ID:C1720816 | Uterine Diseases | MeSH ID:D014591 +BMGC_DS09776,BMG_DS037393,"MeSH ID:D015432 | UMLS ID:C1720821 | Membranoproliferative Glomerulonephritis, Type III | Glomerulonephritis, Membranoproliferative" +BMGC_DS09777,BMG_DS037394,sudden cardiac arrest | MONDO:0100511 | UMLS ID:C1720824 +BMGC_DS09778,BMG_DS037395,"Painful Bladder Syndrome | UMLS ID:C1720830 | Cystitis, Interstitial | MeSH ID:D018856" +BMGC_DS09779,BMG_DS037397,"Lipodystrophy, Familial Partial | familial partial lipodystrophy | MONDO:0012072 | UMLS ID:C1720859 | DOID:0070207;DOID:0050440 | familial partial lipodystrophy, Kobberling type | OMIM ID:608600 | Familial Partial Lipodystrophy, Type 1 | MeSH ID:D052496 | familial partial lipodystrophy type 1" +BMGC_DS09780,BMG_DS037398,"Lipodystrophy, Familial Partial | familial partial lipodystrophy | MONDO:0007906 | OMIM ID:151660 | familial partial lipodystrophy, Dunnigan type | DOID:0070202;DOID:0050440 | MeSH ID:D052496 | UMLS ID:C1720860 | Familial Partial Lipodystrophy, Type 2 | familial partial lipodystrophy type 2" +BMGC_DS09781,BMG_DS037399,"Lipodystrophy, Familial Partial | PPARG-related familial partial lipodystrophy | familial partial lipodystrophy | Familial Partial Lipodystrophy, Type 3 | DOID:0070204;DOID:0050440 | UMLS ID:C1720861 | familial partial lipodystrophy type 3 | OMIM ID:604367 | MeSH ID:D052496 | MONDO:0011448" +BMGC_DS09782,BMG_DS037400,"MeSH ID:D052497 | MONDO:0012071 | UMLS ID:C1720862 | Congenital Generalized Lipodystrophy Type 1 | Lipodystrophy, Congenital Generalized | OMIM ID:608594 | congenital generalized lipodystrophy type 1" +BMGC_DS09783,BMG_DS037401,UMLS ID:C1720863 | congenital generalized lipodystrophy type 2 | OMIM ID:269700 | MONDO:0010020 +BMGC_DS09784,BMG_DS037402,"UMLS ID:C1720864 | mucosulfatidosis | Multiple Sulfatase Deficiency Disease | DOID:0050441 | Sulfatidosis, Juvenile, Austin Type | MeSH ID:D052517" +BMGC_DS09785,BMG_DS037403,Female Urogenital Diseases | UMLS ID:C1720887 | MeSH ID:D052776 +BMGC_DS09786,BMG_DS037404,Male Urogenital Diseases | UMLS ID:C1720894 | MeSH ID:D052801 +BMGC_DS09787,BMG_DS037405,"Hyper-IgM Immunodeficiency Syndrome | OMIM ID:605258 | UMLS ID:C1720956 | hyper-IgM syndrome type 2 | MONDO:0011528 | Hyper-IgM Immunodeficiency Syndrome, Type 2 | DOID:0060758 | MeSH ID:D053306 | immunodeficiency with hyper-IgM type 2" +BMGC_DS09788,BMG_DS037406,"UMLS ID:C1720957 | hyper-IgM syndrome type 3 | OMIM ID:606843 | MONDO:0011735 | Hyper-IgM Immunodeficiency Syndrome, Type 3 | Hyper-IgM Immunodeficiency Syndrome | immunodeficiency with hyper IgM type 3 | DOID:0060023 | MeSH ID:D053306" +BMGC_DS09789,BMG_DS037407,"UMLS ID:C1720958 | OMIM ID:608106 | MONDO:0011971 | immunodeficiency with hyper IgM type 5 | Hyper-IgM Immunodeficiency Syndrome | MeSH ID:D053306 | DOID:0060759 | Hyper-IgM Immunodeficiency Syndrome, Type 5 | hyper-IgM syndrome type 5" +BMGC_DS09790,BMG_DS037408,"UMLS ID:C1720965 | Ectodermal Dysplasia 3, Anhidrotic | MeSH ID:D053359" +BMGC_DS09791,BMG_DS037409,obsolete channelopathy | Channelopathies | UMLS ID:C1720983 | MONDO:0021016 | MeSH ID:D053447 +BMGC_DS09792,BMG_DS037411,"MONDO:0015748 | MeSH ID:D053529 | DOID:0050448 | Leukokeratosis, Hereditary Mucosal | hereditary mucosal leukokeratosis | UMLS ID:C1721005 | white sponge nevus" +BMGC_DS09793,BMG_DS037412,"MONDO:0968949 | DOID:0080223 | Keratoderma, Palmoplantar, Epidermolytic | UMLS ID:C1721006 | epidermolytic palmoplantar keratoderma | MeSH ID:D053546 | palmoplantar keratoderma, epidermolytic" +BMGC_DS09794,BMG_DS037413,"MONDO:0008174 | DOID:0050449 | Pachyonychia Congenita | OMIM ID:167210 | Pachyonychia Congenita, Type 2 | pachyonychia congenita | pachyonychia congenita 2 | MeSH ID:D053549 | UMLS ID:C1721007" +BMGC_DS09795,BMG_DS037415,Paraneoplastic Opsoclonus-Myoclonus Ataxia | UMLS ID:C1721017 | MeSH ID:D053578 | Opsoclonus-Myoclonus Syndrome +BMGC_DS09796,BMG_DS037417,Brugada syndrome | DOID:0050451 | UMLS ID:C1721096 +BMGC_DS09797,BMG_DS037418,Prostatitis | UMLS ID:C1723764 | Chronic Prostatitis with Chronic Pelvic Pain Syndrome | MeSH ID:D011472 +BMGC_DS09798,BMG_DS037420,Migraine with Aura | UMLS ID:C1735856 | MeSH ID:D020325 | Migraine with Typical Aura +BMGC_DS09799,BMG_DS037423,UMLS ID:C1735886 | DOID:0060562 | Bland White Garland Syndrome | MONDO:0000811 | anomalous left coronary artery from the pulmonary artery | MeSH ID:D063748 +BMGC_DS09800,BMG_DS037434,MONDO:0850306 | DOID:0080846 | UMLS ID:C1739108 | Latent Autoimmune Diabetes in Adults | latent autoimmune diabetes in adults | MeSH ID:D000071698 +BMGC_DS09801,BMG_DS037436,UMLS ID:C1739363 | MeSH ID:D011470 | Prostatic Hyperplasia | Prostatic Hypertrophy +BMGC_DS09802,BMG_DS037437,UMLS ID:C1739384 | Angel-shaped phalango-epiphyseal dysplasia | MONDO:0007114 | OMIM ID:105835 +BMGC_DS09803,BMG_DS037438,MONDO:0019018 | Tako-tsubo cardiomyopathy | MeSH ID:D054549 | UMLS ID:C1739395 | Takotsubo Cardiomyopathy +BMGC_DS09804,BMG_DS037442,SNOMEDCT ID:239051001 | Congenital ectodermal dysplasia of face (disorder) | focal facial dermal dysplasia type III | UMLS ID:C1744559 | Congenital ectodermal dysplasia of face | MONDO:0009203 | OMIM ID:227260 +BMGC_DS09805,BMG_DS037446,SNOMEDCT ID:47839005 | UMLS ID:C1761609 | Aspiration pneumonia | SNOMEDCT ID:155597006 | MONDO:0002572 | Aspiration pneumonitis | Aspiration pneumonia (disorder) | Aspiration pneumonitis (disorder) | Inhalation pneumonia | aspiration pneumonitis +BMGC_DS09806,BMG_DS037447,OMIM ID:129400 | Rapp-Hodgkin syndrome | RAPP-HODGKIN SYNDROME | OMIM ID:603273 | UMLS ID:C1785148 | MONDO:0007508 | DOID:0090119 | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +BMGC_DS09807,BMG_DS037448,idiopathic pulmonary fibrosis | Idiopathic Pulmonary Fibrosis | DOID:0050156 | MeSH ID:D054990 | UMLS ID:C1800706 +BMGC_DS09808,BMG_DS037449,OMIM ID:300590 | Congenital muscular hypertrophy-cerebral syndrome (disorder) | Bruch-de Lange syndrome | Congenital muscular hypertrophy-cerebral syndrome | Cornelia de Lange syndrome 2 | UMLS ID:C1802395 | MONDO:0010370 | SNOMEDCT ID:55016009 +BMGC_DS09809,BMG_DS037452,SNOMEDCT ID:54920000 | UMLS ID:C1809471 | FHH - familial hypocalciuric hypercalcemia | SNOMEDCT ID:237885008 | Familial benign hypercalcemia | Familial hypocalciuric hypercalcaemia | Familial hyperparathyroidism (disorder) | familial hypocalciuric hypercalcemia | Familial hypocalciuric hypercalcemia (disorder) | MONDO:0018458 | FHH - familial hypocalciuric hypercalcaemia | Familial hyperparathyroidism | Familial benign hypercalcaemia | Familial benign hypercalcemia (disorder) | SNOMEDCT ID:190868007 | Familial hypocalciuric hypercalcemia +BMGC_DS09810,BMG_DS037454,Pseudocowpox | SNOMEDCT ID:266193008 | Milkers' node | Orf | Classical smallpox | Variola major | UMLS ID:C1812609 | Smallpox | variola major infectious disease | Variola major (disorder) | MONDO:0000338 | SNOMEDCT ID:154344005 | Roseola infantum | Milker's node | variola major | Other viral exanthemata | Cowpox | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder) | Fifth disease | DOID:0050508 | (Viral exanthemata [& variants]) or (orf) or (milkers node) | Parascarlatina | Ordinary smallpox | Fourth disease | SNOMEDCT ID:47452006 +BMGC_DS09811,BMG_DS037455,"DEAFNESS, AUTOSOMAL RECESSIVE 70 | autosomal recessive nonsyndromic hearing loss 70 | UMLS ID:C1824925 | OMIM ID:610316 | MONDO:0013978 | OMIM ID:614934" +BMGC_DS09812,BMG_DS037478,Decompensated chronic heart failure | Decompensated chronic heart failure (disorder) | SNOMEDCT ID:424404003 | UMLS ID:C1827266 +BMGC_DS09813,BMG_DS037482,MeSH ID:D054908 | Extensively Drug-Resistant Tuberculosis | UMLS ID:C1827301 | extensively drug-resistant tuberculosis | MONDO:0100482 +BMGC_DS09814,BMG_DS037488,Poor metabolizer due to CYP2C9 | SNOMEDCT ID:424451001 | UMLS ID:C1827367 | Poor metabolizer due to cytochrome p450 CYP2C9 variant | Poor metabolizer due to cytochrome p450 CYP2C9 variant (disorder) +BMGC_DS09815,BMG_DS037492,Slow acetylator due to N-acetyltransferase enzyme variant | SNOMEDCT ID:425079005 | UMLS ID:C1827377 | Slow acetylator due to N-acetyltransferase enzyme variant (disorder) | Slow acetylator +BMGC_DS09816,BMG_DS037499,SNOMEDCT ID:424500005 | Poor metabolizer due to cytochrome p450 CYP2C19 variant | Poor metabolizer due to CYP2C19 | Poor metabolizer due to cytochrome p450 CYP2C19 variant (disorder) | UMLS ID:C1827468 +BMGC_DS09817,BMG_DS037525,SNOMEDCT ID:422681000 | Ultrarapid metabolizer due to cytochrome p450 CYP2D6 variant (disorder) | UMLS ID:C1827786 | Ultrarapid metabolizer due to cytochrome p450 CYP2D6 variant | Ultrarapid metabolizer due to CYP2D6 +BMGC_DS09818,BMG_DS037547,MONDO:0009907 | OMIM ID:264060 | Prepapillary vascular loops | UMLS ID:C1828066 +BMGC_DS09819,BMG_DS037558,"Macular dystrophy, concentric annular | UMLS ID:C1828210 | MeSH ID:C537833" +BMGC_DS09820,BMG_DS037573,Poor metabolizer due to CYP2D6 | SNOMEDCT ID:423629005 | UMLS ID:C1828413 | Poor metabolizer due to cytochrome p450 CYP2D6 variant | Poor metabolizer due to cytochrome p450 CYP2D6 variant (disorder) +BMGC_DS09821,BMG_DS037582,UMLS ID:C1829703 | MeSH ID:C535588 | OMIM ID:255120 | MONDO:0009705 | Carnitine palmitoyl transferase 1A deficiency | carnitine palmitoyl transferase 1A deficiency +BMGC_DS09822,BMG_DS037584,MONDO:0011112 | UMLS ID:C1832099 | OMIM ID:601583 | Wilms tumor 5 +BMGC_DS09823,BMG_DS037587,"UMLS ID:C1832162 | MONDO:0011107 | OMIM ID:601553 | HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY | OMIM ID:114021 | DOID:0110711 | congenital hypotrichosis with juvenile macular dystrophy" +BMGC_DS09824,BMG_DS037588,"facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | MeSH ID:C563293 | MONDO:0011106 | UMLS ID:C1832167 | OMIM ID:601552" +BMGC_DS09825,BMG_DS037589,OMIM ID:126600 | DOYNE HONEYCOMB RETINAL DYSTROPHY | MONDO:0007471 | UMLS ID:C1832174 | Doyne honeycomb retinal dystrophy | OMIM ID:601548 +BMGC_DS09826,BMG_DS037590,"Cataract, Congenital, Cerulean Type, 2 | MeSH ID:C563294 | UMLS ID:C1832175 | cataract 3 multiple types | MONDO:0011104 | OMIM ID:601547" +BMGC_DS09827,BMG_DS037591,"OMIM ID:601543 | autosomal dominant nonsyndromic hearing loss 12 | MONDO:0011102 | UMLS ID:C1832187 | MeSH ID:C563295 | Deafness, Autosomal Dominant 12" +BMGC_DS09828,BMG_DS037592,MONDO:0019234 | Peroxisome biogenesis disorders | UMLS ID:C1832200 | MeSH ID:C536664 | peroxisome biogenesis disorder +BMGC_DS09829,BMG_DS037594,UMLS ID:C1832215 | Athabaskan brainstem dysgenesis | human HOXA1 syndromes | MONDO:0011099 | OMIM ID:601536 | MeSH ID:C535397 +BMGC_DS09830,BMG_DS037595,Bosley-Salih-Alorainy Syndrome | MONDO:0019075 | UMLS ID:C1832216 | MeSH ID:C535397 | Bosley-Salih-Alorainy syndrome +BMGC_DS09831,BMG_DS037596,MONDO:0011097 | Axenfeld-Rieger syndrome type 2 | UMLS ID:C1832229 | MeSH ID:C535680 | Rieger syndrome 2 | OMIM ID:601499 +BMGC_DS09832,BMG_DS037600,"MeSH ID:C538056 | autosomal agammaglobulinemia | Agammaglobulinemia, non-Bruton type | MONDO:0011096 | UMLS ID:C1832241" +BMGC_DS09833,BMG_DS037601,"Cardiomyopathy, Dilated, 1D | UMLS ID:C1832243 | dilated cardiomyopathy 1D | OMIM ID:601494 | MONDO:0011095 | MeSH ID:C563306" +BMGC_DS09834,BMG_DS037602,"UMLS ID:C1832244 | Cardiomyopathy, Dilated, 1C | OMIM ID:601493 | dilated cardiomyopathy 1C | MONDO:0011094 | MeSH ID:C563307" +BMGC_DS09835,BMG_DS037603,MeSH ID:C537613 | ribbing disease | OMIM ID:601477 | Ribbing disease | UMLS ID:C1832273 | MONDO:0011092 +BMGC_DS09836,BMG_DS037604,"MONDO:0011091 | UMLS ID:C1832274 | OMIM ID:601472 | Charcot-Marie-Tooth disease type 2D | MeSH ID:C537993 | Charcot-Marie-Tooth disease, Type 2D" +BMGC_DS09837,BMG_DS037605,"OMIM ID:601471 | facial paresis, hereditary congenital, 1 | FACIAL PARESIS, HEREDITARY CONGENITAL, 1 | UMLS ID:C1832284 | MONDO:0024466" +BMGC_DS09838,BMG_DS037607,"DOID:0090013 | UMLS ID:C1832322 | OMIM ID:601457 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | MeSH ID:C563311 | MONDO:0011086 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive | Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive" +BMGC_DS09839,BMG_DS037608,"MONDO:0011085 | OMIM ID:601455 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D | UMLS ID:C1832334 | OMIM ID:605262 | Charcot-Marie-Tooth disease type 4D" +BMGC_DS09840,BMG_DS037612,"progressive deafness with stapes fixation | MeSH ID:C563316 | Deafness, Progressive, With Stapes Fixation | UMLS ID:C1832354 | MONDO:0011080 | OMIM ID:601449" +BMGC_DS09841,BMG_DS037613,"MONDO:0011079 | OMIM ID:601438 | MeSH ID:C537609 | UMLS ID:C1832359 | Rhizomelic dysplasia of Patterson Lowry type | rhizomelic dysplasia, Patterson-Lowry type | Rhizomelic dysplasia Patterson Lowry type | SNOMEDCT ID:715505002 | Rhizomelic dysplasia of Patterson Lowry type (disorder)" +BMGC_DS09842,BMG_DS037614,"Jung Wolff Back Stahl syndrome | MeSH ID:C537694 | MONDO:0011078 | OMIM ID:601427 | UMLS ID:C1832362 | anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" +BMGC_DS09843,BMG_DS037616,"OMIM ID:615325 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | OMIM ID:601419 | MONDO:0011076 | myofibrillar myopathy 1 | UMLS ID:C1832370" +BMGC_DS09844,BMG_DS037617,UMLS ID:C1832378 | retinitis pigmentosa 18 | Retinitis Pigmentosa 18 | OMIM ID:601414 | MeSH ID:C563320 | MONDO:0011075 | DOID:0110356 +BMGC_DS09845,BMG_DS037618,"autosomal dominant nonsyndromic hearing loss 7 | Deafness, Autosomal Dominant 7 | MeSH ID:C563321 | MONDO:0011074 | UMLS ID:C1832379 | OMIM ID:601412" +BMGC_DS09846,BMG_DS037619,"UMLS ID:C1832386 | Diabetes Mellitus, Transient Neonatal, 1 | diabetes mellitus, transient neonatal, 1 | OMIM ID:601410 | MONDO:0011073 | MeSH ID:C563322" +BMGC_DS09847,BMG_DS037621,"Platelet Disorder, Familial, with Associated Myeloid Malignancy | MONDO:0100083;MONDO:0011071 | hereditary thrombocytopenia and hematologic cancer predisposition syndrome | MeSH ID:C563324 | hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | UMLS ID:C1832388 | OMIM ID:601399" +BMGC_DS09848,BMG_DS037622,MONDO:0017813 | MeSH ID:C536530 | Van Maldergem Wetzburger Verloes syndrome | van Maldergem syndrome | DOID:0060238 | UMLS ID:C1832390 | Van Maldergem syndrome +BMGC_DS09849,BMG_DS037623,"Cervical ribs sprengel anomaly anal atresia urethral obstruction | MeSH ID:C538072 | cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction | UMLS ID:C1832391 | MONDO:0011069 | OMIM ID:601389" +BMGC_DS09850,BMG_DS037624,"type 1 diabetes mellitus 12 | DIABETES MELLITUS, INSULIN-DEPENDENT, 12 | UMLS ID:C1832392 | OMIM ID:601388 | MONDO:0011068" +BMGC_DS09851,BMG_DS037625,"OMIM ID:601386 | UMLS ID:C1832394 | Deafness, Autosomal Recessive 12 | MONDO:0011067 | MeSH ID:C563327 | autosomal recessive nonsyndromic hearing loss 12" +BMGC_DS09852,BMG_DS037626,"UMLS ID:C1832399 | OMIM ID:601382 | Charcot-Marie-Tooth disease, Type 4B1 | MONDO:0011066 | DOID:0110191 | Charcot-Marie-Tooth disease type 4B1 | MeSH ID:C535420" +BMGC_DS09853,BMG_DS037627,Hunter-McAlpine craniosynostosis syndrome | Hunter-McAlpine craniosynostosis | MONDO:0011065 | OMIM ID:601379 | UMLS ID:C1832408 | MeSH ID:C536072 +BMGC_DS09854,BMG_DS037628,Cold-induced sweating syndrome (disorder) | UMLS ID:C1832409 | Cold-induced sweating syndrome | SNOMEDCT ID:702363009 | DOID:0060294 | Ciliary neurotrophic factor receptor-related disorder | Crisponi syndrome | cold-induced sweating syndrome | Crisponi syndrome (disorder) | SNOMEDCT ID:725097006 | Sohar-Crisponi syndrome | MONDO:0015526 | MeSH ID:C536214 +BMGC_DS09855,BMG_DS037631,aprosencephaly cerebellar dysgenesis | MONDO:0011062 | Aprosencephaly and Cerebellar Dysgenesis | UMLS ID:C1832412 | OMIM ID:601374 | MeSH ID:C563331 +BMGC_DS09856,BMG_DS037633,early-onset non-syndromic cataract | UMLS ID:C1832423 | OMIM ID:601371 | MONDO:0011060 +BMGC_DS09857,BMG_DS037634,OMIM ID:601370 | Genoa syndrome | holoprosencephaly-craniosynostosis syndrome | Holoprosencephaly craniosynostosis syndrome (disorder) | Camero Lituania Cohen syndrome | MeSH ID:C537684 | SNOMEDCT ID:715434005 | MONDO:0011059 | Holoprosencephaly craniosynostosis syndrome | UMLS ID:C1832424 +BMGC_DS09858,BMG_DS037635,"MeSH ID:C563335 | autosomal dominant nonsyndromic hearing loss 9 | MONDO:0011058 | OMIM ID:601369 | Deafness, Autosomal Dominant 9 | UMLS ID:C1832425" +BMGC_DS09859,BMG_DS037636,OMIM ID:601363 | UMLS ID:C1832426 | Wilms tumor 4 | MONDO:0011056 +BMGC_DS09860,BMG_DS037637,UMLS ID:C1832431 | MONDO:0011055 | OMIM ID:601362 | Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 | MeSH ID:C563337 | distal monosomy 10p +BMGC_DS09861,BMG_DS037638,"MeSH ID:C563338 | UMLS ID:C1832432 | Amelia, Autosomal Recessive | OMIM ID:601360 | autosomal recessive amelia | MONDO:0011054" +BMGC_DS09862,BMG_DS037640,amelia cleft lip palate hydrocephalus iris coloboma | MeSH ID:C536713 | MONDO:0011052 | UMLS ID:C1832434 | Yim Ebbin syndrome | OMIM ID:601357 +BMGC_DS09863,BMG_DS037641,"OMIM ID:601356 | Short limb dwarfism Al Gazali type | MONDO:0011051 | lethal short-limb skeletal dysplasia, Al Gazali type | MeSH ID:C537598 | UMLS ID:C1832435" +BMGC_DS09864,BMG_DS037642,"OMIM ID:601355 | MONDO:0011050 | MeSH ID:C563341 | microcephaly-cardiac defect-lung malsegmentation syndrome | UMLS ID:C1832436 | Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs" +BMGC_DS09865,BMG_DS037643,"epilepsy-microcephaly-skeletal dysplasia syndrome | UMLS ID:C1832437 | Mental Retardation, Microcephaly, Epilepsy, And Coarse Face | OMIM ID:601352 | MeSH ID:C563342 | MONDO:0011048" +BMGC_DS09866,BMG_DS037646,"DOID:0111803 | MICROPHTHALMIA, SYNDROMIC 8 | MMEP syndrome | MONDO:0011045 | UMLS ID:C1832440 | OMIM ID:601349 | syndromic microphthalmia 8" +BMGC_DS09867,BMG_DS037649,MONDO:0011042 | Martinez-Frias syndrome | OMIM ID:601346 | MeSH ID:C563346 | Martinez-Frias Syndrome | UMLS ID:C1832443 +BMGC_DS09868,BMG_DS037650,"MeSH ID:C563347 | ectodermal dysplasia with natal teeth, Turnpenny type | MONDO:0011041 | Ectodermal Dysplasia with Natal Teeth, Turnpenny Type | OMIM ID:601345 | UMLS ID:C1832444" +BMGC_DS09869,BMG_DS037651,"Spinal Dysplasia, Anhalt Type | spinal dysplasia, Anhalt type | OMIM ID:601344 | UMLS ID:C1832464 | MONDO:0011040 | MeSH ID:C563348" +BMGC_DS09870,BMG_DS037652,"atrophia maculosa varioliformis cutis, familial | Atrophia Maculosa Varioliformis Cutis, Familial | UMLS ID:C1832465 | MeSH ID:C563349 | OMIM ID:601341 | MONDO:0011039" +BMGC_DS09871,BMG_DS037653,cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | MeSH ID:C535351 | UMLS ID:C1832466 | MONDO:0011038 | OMIM ID:601338 | CAPOS syndrome +BMGC_DS09872,BMG_DS037655,MeSH ID:C536336 | porencephaly-cerebellar hypoplasia-internal malformations syndrome | UMLS ID:C1832472 | MONDO:0011036 | OMIM ID:601322 | Porencephaly cerebellar hypoplasia malformations +BMGC_DS09873,BMG_DS037656,MeSH ID:C537741 | MONDO:0011034 | UMLS ID:C1832473 | OMIM ID:601319 | odontomicronychial dysplasia | Odontomicronychial dysplasia +BMGC_DS09874,BMG_DS037658,"MeSH ID:C563353 | MONDO:0011032 | autosomal dominant nonsyndromic hearing loss 11 | OMIM ID:601317 | Deafness, Autosomal Dominant 11 | UMLS ID:C1832475" +BMGC_DS09875,BMG_DS037659,"Deafness, Autosomal Dominant 10 | OMIM ID:601316 | autosomal dominant nonsyndromic hearing loss 10 | MONDO:0011031 | MeSH ID:C563354 | UMLS ID:C1832476" +BMGC_DS09876,BMG_DS037662,OMIM ID:601287 | autosomal recessive limb-girdle muscular dystrophy type 2F | Limb-girdle muscular dystrophy type 2F | MONDO:0011028 | MeSH ID:C535896 | UMLS ID:C1832525 +BMGC_DS09877,BMG_DS037664,"Diabetes Mellitus, Noninsulin-Dependent, 1 | UMLS ID:C1832544 | MONDO:0011027 | OMIM ID:601283 | MeSH ID:C563359 | diabetes mellitus, noninsulin-dependent, 1" +BMGC_DS09878,BMG_DS037665,MONDO:0011026 | OMIM ID:601277 | UMLS ID:C1832550 | autosomal recessive congenital ichthyosis 4A +BMGC_DS09879,BMG_DS037666,Rippling Muscle Disease 2 | DOID:0070308 | rippling muscle disease 2 | OMIM ID:606072 | rippling muscle disease 1 | MONDO:0019947 | MeSH ID:C535686 | UMLS ID:C1832560 +BMGC_DS09880,BMG_DS037667,"CEREBELLAR ATAXIA, CAYMAN TYPE | Cayman type cerebellar ataxia | OMIM ID:601238 | UMLS ID:C1832585 | MONDO:0011025" +BMGC_DS09881,BMG_DS037668,"OMIM ID:601230 | DERMATITIS HERPETIFORMIS, FAMILIAL | MONDO:0011024 | dermatitis herpetiformis, familial | UMLS ID:C1832586" +BMGC_DS09882,BMG_DS037669,"POLYPOSIS SYNDROME, HEREDITARY MIXED, 1 | MONDO:0042486 | hereditary mixed polyposis syndrome 1 | polyposis syndrome, hereditary mixed, 1 | OMIM ID:601228 | DOID:0111685 | UMLS ID:C1832587" +BMGC_DS09883,BMG_DS037670,DOID:0111687 | Potocki-Shaffer syndrome | Chromosome 11p11.2 Deletion Syndrome | MeSH ID:C538356 | MONDO:0011022 | UMLS ID:C1832588 | OMIM ID:601224 +BMGC_DS09884,BMG_DS037671,"MeSH ID:C537394 | OMIM ID:601223 | neuronal intestinal dysplasia, type B | Neuronal Intestinal Dysplasia, Type B | MONDO:0011021 | UMLS ID:C1832589" +BMGC_DS09885,BMG_DS037675,brachyolmia-amelogenesis imperfecta syndrome | SNOMEDCT ID:716195006 | Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome | Brachyolmia and amelogenesis imperfecta syndrome | Platyspondyly amelogenesis imperfecta | UMLS ID:C1832594 | MeSH ID:C536538 | OMIM ID:601216 | Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | MONDO:0011018 | Verloes Bourguignon syndrome +BMGC_DS09886,BMG_DS037676,Palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy | OMIM ID:601214 | UMLS ID:C1832600 | Keratoderma with wooly hair type I | Keratoderma with woolly hair type I | Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome | MeSH ID:C538346 | SNOMEDCT ID:715535009 | Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) | DOID:0080551 | MONDO:0011017 | Naxos disease +BMGC_DS09887,BMG_DS037678,cataract 24 | OMIM ID:601202 | UMLS ID:C1832609 | Anterior polar cataract 2 | MeSH ID:C537774 | MONDO:0011015 +BMGC_DS09888,BMG_DS037680,"Hypocalcemia, Autosomal Dominant, with Bartter Syndrome | UMLS ID:C1832612 | MeSH ID:C563374" +BMGC_DS09889,BMG_DS037681,"UMLS ID:C1832615 | neonatal severe primary hyperparathyroidism | MONDO:0009397 | OMIM ID:601199 | OMIM ID:239200 | HYPERPARATHYROIDISM, NEONATAL SEVERE" +BMGC_DS09890,BMG_DS037682,Hypoparathyroidism familial isolated | familial hypoparathyroidism | MeSH ID:C537156 | UMLS ID:C1832648 | MONDO:0016390 +BMGC_DS09891,BMG_DS037683,UMLS ID:C1832661 | MeSH ID:C537768 | Anophthalmia with pulmonary hypoplasia | DOID:0111807 | OMIM ID:601186 | Matthew-Wood syndrome | syndromic microphthalmia 9 | MONDO:0011010 +BMGC_DS09892,BMG_DS037684,"OMIM ID:608446 | MONDO:0012039 | myocardial infarction, susceptibility to | UMLS ID:C1832662" +BMGC_DS09893,BMG_DS037686,"OMIM ID:601163 | Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull | MeSH ID:C563380 | MONDO:0011007 | UMLS ID:C1832668 | diaphragmatic defect-limb deficiency-skull defect syndrome" +BMGC_DS09894,BMG_DS037687,"MONDO:0015091 | MeSH ID:C536868 | autosomal dominant spastic paraplegia type 9 | UMLS ID:C1832669 | Spastic paraplegia 9, autosomal dominant" +BMGC_DS09895,BMG_DS037690,"OMIM ID:601154 | CARDIOMYOPATHY, DILATED, 1E | UMLS ID:C1832680 | dilated cardiomyopathy 1E | OMIM ID:600163 | MONDO:0011003" +BMGC_DS09896,BMG_DS037691,MONDO:0007216 | DOID:0110965 | brachydactyly type A2 | UMLS ID:C1832702 | OMIM ID:112600 +BMGC_DS09897,BMG_DS037692,MULTIPLE SYNOSTOSES SYNDROME 2 | OMIM ID:601146 | DOID:0081318 | UMLS ID:C1832708 | multiple synostoses syndrome 2 | OMIM ID:610017 | MONDO:0012394 +BMGC_DS09898,BMG_DS037693,OMIM ID:601127 | fallot complex-intellectual disability-growth delay syndrome | UMLS ID:C1832735 | Fallot complex with severe mental and growth retardation | MONDO:0010999 | MeSH ID:C536608 +BMGC_DS09899,BMG_DS037694,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | ALG3-congenital disorder of glycosylation | OMIM ID:608750 | DOID:0080556 | UMLS ID:C1832736 | OMIM ID:601110 | congenital disorder of glycosylation Id | MONDO:0010998" +BMGC_DS09900,BMG_DS037697,"MONDO:0010992 | UMLS ID:C1832812 | MeSH ID:C563390 | DOID:0111688 | OMIM ID:601088 | Ayme-Gripp syndrome | Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation" +BMGC_DS09901,BMG_DS037698,"MeSH ID:C563391 | OMIM ID:601086 | Laterality Defects, Autosomal Dominant | MONDO:0010991 | UMLS ID:C1832813 | laterality defects, autosomal dominant" +BMGC_DS09902,BMG_DS037699,"UMLS ID:C1832826 | OMIM ID:601075 | MONDO:0010988 | MeSH ID:C563394 | aplasia cutis-myopia syndrome | Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction" +BMGC_DS09903,BMG_DS037700,"MONDO:0010987 | UMLS ID:C1832827 | autosomal recessive nonsyndromic hearing loss 8 | DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 | OMIM ID:601072" +BMGC_DS09904,BMG_DS037701,"autosomal recessive nonsyndromic hearing loss 9 | UMLS ID:C1832828 | Deafness, Autosomal Recessive 9 | MeSH ID:C563396 | MONDO:0010986 | OMIM ID:601071" +BMGC_DS09905,BMG_DS037703,"UMLS ID:C1832841 | OMIM ID:601068 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 | MONDO:0010985 | OMIM ID:618073 | familial adult myoclonic epilepsy 1 | DOID:0111690 | epilepsy, familial adult myoclonic, 1" +BMGC_DS09906,BMG_DS037704,"USHER SYNDROME, TYPE ID | Usher syndrome type 1D | UMLS ID:C1832845 | OMIM ID:601067 | MONDO:0010984 | OMIM ID:605516" +BMGC_DS09907,BMG_DS037705,"DOID:0090044 | OMIM ID:601042 | MONDO:0010983 | UMLS ID:C1832855 | dystonia 9 | CHOREOATHETOSIS/SPASTICITY, EPISODIC" +BMGC_DS09908,BMG_DS037706,OMIM ID:601039 | ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin | MONDO:0010982 | MeSH ID:C563402 | Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin | UMLS ID:C1832858 +BMGC_DS09909,BMG_DS037709,"MeSH ID:C536890 | Hemiplegic migraine, familial type 1 | migraine, familial hemiplegic, 1 | OMIM ID:141500 | UMLS ID:C1832884 | MONDO:0020756" +BMGC_DS09910,BMG_DS037710,"UMLS ID:C1832903 | MONDO:0020757 | OMIM ID:601011 | sporadic hemiplegic migraine | familial hemiplegic migraine 1 | DOID:0111181 | MIGRAINE, SPORADIC HEMIPLEGIC | OMIM ID:141500" +BMGC_DS09911,BMG_DS037711,Timothy syndrome (disorder) | MONDO:0010979 | Long QT syndrome type 8 | OMIM ID:601005 | MeSH ID:C536962 | UMLS ID:C1832916 | Timothy syndrome | DOID:0060173 | SNOMEDCT ID:1230096008 +BMGC_DS09912,BMG_DS037712,"MONDO:0010978 | Portal Vein, Cavernous Transformation Of | OMIM ID:601004 | portal vein, cavernous transformation of | MeSH ID:C563407 | UMLS ID:C1832917" +BMGC_DS09913,BMG_DS037713,UMLS ID:C1832918 | Brody myopathy (disorder) | MONDO:0010977 | DOID:0050692 | OMIM ID:601003 | Brody myopathy | Brody disease | MeSH ID:C536607 | SNOMEDCT ID:703530005 +BMGC_DS09914,BMG_DS037714,"UMLS ID:C1832926 | MeSH ID:C563408 | Epidermolysis Bullosa Simplex, Autosomal Recessive" +BMGC_DS09915,BMG_DS037715,"MeSH ID:C563410 | autosomal dominant nonsyndromic hearing loss 5 | Deafness, Autosomal Dominant 5 | OMIM ID:600994 | UMLS ID:C1832932 | MONDO:0010973" +BMGC_DS09916,BMG_DS037716,JUVENILE POLYPOSIS OF STOMACH | OMIM ID:600993 | UMLS ID:C1832940 | OMIM ID:174900 +BMGC_DS09917,BMG_DS037717,Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia | juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | MONDO:0008278 | OMIM ID:175050 | UMLS ID:C1832942 | MeSH ID:C563412 +BMGC_DS09918,BMG_DS037719,Infundibulopelvic dysgenesis | UMLS ID:C1832949 | MONDO:0010971 | Infundibulopelvic stenosis multicystic kidney syndrome (disorder) | infundibulopelvic stenosis-multicystic kidney syndrome | MeSH ID:C535528 | OMIM ID:600989 | OMIM ID:MTHU054184 | Infundibulopelvic stenosis multicystic kidney syndrome | SNOMEDCT ID:725905005 +BMGC_DS09919,BMG_DS037720,"DOID:0111697 | MeSH ID:C563414 | UMLS ID:C1832950 | OMIM ID:600987 | cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies | MONDO:0010970 | cleft palate, cardiac defects, and intellectual disabillity" +BMGC_DS09920,BMG_DS037721,cone-rod dystrophy 5 | DOID:0111010 | OMIM ID:600977 | UMLS ID:C1832976 | MeSH ID:C563415 | MONDO:0010969 | Cone-Rod Dystrophy 5 +BMGC_DS09921,BMG_DS037722,"UMLS ID:C1832977 | OMIM ID:600975 | glaucoma 3, primary infantile, B | GLAUCOMA 3, PRIMARY INFANTILE, B | MONDO:0010968" +BMGC_DS09922,BMG_DS037723,"MeSH ID:C563417 | Deafness, Autosomal Recessive 7 | UMLS ID:C1832978 | autosomal recessive nonsyndromic hearing loss 7 | MONDO:0010967 | OMIM ID:600974" +BMGC_DS09923,BMG_DS037724,"autosomal recessive nonsyndromic hearing loss 6 | MONDO:0010965 | UMLS ID:C1832992 | OMIM ID:607237 | OMIM ID:600971 | DEAFNESS, AUTOSOMAL RECESSIVE 6" +BMGC_DS09924,BMG_DS037725,"UMLS ID:C1832998 | epiphyseal dysplasia, multiple, 3 | OMIM ID:120270 | MONDO:0010964 | multiple epiphyseal dysplasia 3 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 | OMIM ID:600969 | DOID:0070304" +BMGC_DS09925,BMG_DS037726,"MONDO:0010963 | UMLS ID:C1833021 | autosomal dominant nonsyndromic hearing loss 6 | OMIM ID:606201 | OMIM ID:600965 | DEAFNESS, AUTOSOMAL DOMINANT 6" +BMGC_DS09926,BMG_DS037728,"diffuse nonepidermolytic palmoplantar keratoderma | nonepidermolytic palmoplantar keratoderma | OMIM ID:600962 | MONDO:0010962 | DOID:0050428 | OMIM ID:139350 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC | UMLS ID:C1833030" +BMGC_DS09927,BMG_DS037729,Proprotein Convertase 1 3 Deficiency | UMLS ID:C1833053 | DOID:0111698 | MONDO:0010961 | obesity due to prohormone convertase I deficiency | OMIM ID:600955 | proprotein convertase 1/3 deficiency | MeSH ID:C563423 +BMGC_DS09928,BMG_DS037730,MONDO:0100164 | permanent neonatal diabetes mellitus | UMLS ID:C1833104 +BMGC_DS09929,BMG_DS037732,MONDO:0011430 | UMLS ID:C1833118 | pulverulent cataract +BMGC_DS09930,BMG_DS037733,Van den Ende-Gupta syndrome | DOID:0111699 | Marden Walker like syndrome | MONDO:0010959 | MeSH ID:C535909 | UMLS ID:C1833136 | van den Ende-Gupta syndrome | SNOMEDCT ID:719845008 | Van den Ende-Gupta syndrome (disorder) | OMIM ID:600920 +BMGC_DS09931,BMG_DS037734,Long Qt Syndrome 4 | UMLS ID:C1833154 | DOID:0111701 | MeSH ID:C563428 | long QT syndrome 4 | MONDO:0800323 +BMGC_DS09932,BMG_DS037738,"MeSH ID:C538137 | UMLS ID:C1833213 | DOID:0111256 | Hyperferritinemia, hereditary, with congenital cataracts | OMIM ID:600886 | hereditary hyperferritinemia with congenital cataracts | hyperferritinemia-cataract syndrome | MONDO:0010952" +BMGC_DS09933,BMG_DS037740,"MONDO:0010949 | UMLS ID:C1833219 | OMIM ID:600882 | DOID:0110159 | Charcot-Marie-Tooth disease, Type 2B | Charcot-Marie-Tooth disease type 2B | MeSH ID:C537989" +BMGC_DS09934,BMG_DS037741,"OMIM ID:600881 | cataract 10 multiple types | Cataract, Congenital Zonular, with Sutural Opacities | UMLS ID:C1833229 | MeSH ID:C563435 | MONDO:0010948" +BMGC_DS09935,BMG_DS037742,"Cardiomyopathy, Familial Hypertrophic, 6 | hypertrophic cardiomyopathy 6 | MONDO:0010946 | UMLS ID:C1833236 | MeSH ID:C563436 | OMIM ID:600858" +BMGC_DS09936,BMG_DS037743,OMIM ID:600852 | retinitis pigmentosa 17 | DOID:0110404 | Retinitis Pigmentosa 17 | MONDO:0010945 | MeSH ID:C563437 | UMLS ID:C1833245 +BMGC_DS09937,BMG_DS037745,schizophrenia 4 | UMLS ID:C1833247 | OMIM ID:600850 | DOID:0070080 | SCHIZOPHRENIA 4 | MONDO:0010943 +BMGC_DS09938,BMG_DS037746,"Enuresis, Nocturnal, 2 | nocturnal enuresis, 2 | UMLS ID:C1833268 | MONDO:0010941 | OMIM ID:600808 | MeSH ID:C563439" +BMGC_DS09939,BMG_DS037747,"T-B+ severe combined immunodeficiency due to JAK3 deficiency | OMIM ID:600802 | MONDO:0010938 | UMLS ID:C1833275 | Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative | MeSH ID:C563440" +BMGC_DS09940,BMG_DS037749,"OMIM ID:614696 | MONDO:0010936 | OMIM ID:600795 | FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED | frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | UMLS ID:C1833296" +BMGC_DS09941,BMG_DS037750,"neuronopathy, distal hereditary motor, type 5 | UMLS ID:C1833308 | MONDO:0100350 | autosomal dominant distal hereditary motor neuronopathy 5 | DOID:0111203" +BMGC_DS09942,BMG_DS037751,"MeSH ID:C563444 | UMLS ID:C1833319 | OMIM ID:600792 | MONDO:0000912 | autosomal recessive nonsyndromic hearing loss 5 | Deafness, Autosomal Recessive 5" +BMGC_DS09943,BMG_DS037752,"OMIM ID:616842 | CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL | OMIM ID:600790 | UMLS ID:C1833321 | MONDO:0010932 | progressive bifocal chorioretinal atrophy" +BMGC_DS09944,BMG_DS037753,OMIM ID:600776 | SNOMEDCT ID:720496006 | Anophthalmia plus syndrome (disorder) | Anophthalmia plus syndrome | anophthalmia plus syndrome | Fryns microphthalmia syndrome | UMLS ID:C1833339 | MeSH ID:C537767 | MONDO:0010930 +BMGC_DS09945,BMG_DS037754,Craniosynostoses | UMLS ID:C1833340 | craniosynostosis 4 | OMIM ID:600775 | Synostotic Posterior Plagiocephaly | MeSH ID:D003398 | MONDO:0010929 +BMGC_DS09946,BMG_DS037756,OROFACIAL CLEFT 3 | MONDO:0010927 | OMIM ID:600757 | orofacial cleft 3 | UMLS ID:C1833369 +BMGC_DS09947,BMG_DS037757,"familial hypocalciuric hypercalcemia 3 | UMLS ID:C1833372 | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III | OMIM ID:600740 | MONDO:0010926 | OMIM ID:602242" +BMGC_DS09948,BMG_DS037758,"GNE myopathy | UMLS ID:C1833373 | DOID:0080718 | MeSH ID:C538329 | Inclusion Body Myopathy, Autosomal Recessive" +BMGC_DS09949,BMG_DS037760,"Maturity-Onset Diabetes of the Young, Type 4 | MeSH ID:C563451 | OMIM ID:606392 | maturity-onset diabetes of the young type 4 | UMLS ID:C1833382 | MONDO:0011667 | DOID:0111103" +BMGC_DS09950,BMG_DS037761,MeSH ID:C535306 | OMIM ID:MTHU006365 | DOID:0050573 | MONDO:0010924 | SNOMEDCT ID:237960000 | D-2-hydroxyglutaric aciduria (disorder) | 2-hydroxyglutaric aciduria | UMLS ID:C1833429 | D-2(OH) glutaric aciduria | D-2-hydroxyglutaric aciduria +BMGC_DS09951,BMG_DS037762,Proximal Myopathy with Focal Depletion of Mitochondria | MONDO:0010923 | MeSH ID:C563453 | UMLS ID:C1833453 | proximal myopathy with focal depletion of mitochondria | OMIM ID:600706 +BMGC_DS09952,BMG_DS037763,MeSH ID:C536616 | Komuragaeri disease | OMIM ID:600705 | SNOMEDCT ID:763630007 | Satoyoshi syndrome (disorder) | Satoyoshi syndrome | UMLS ID:C1833454 | MONDO:0010922 +BMGC_DS09953,BMG_DS037765,"hereditary nonpolyposis colorectal cancer type 5 | MONDO:0013710 | DOID:0070272 | OMIM ID:614350 | Lynch syndrome 5 | UMLS ID:C1833477 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5" +BMGC_DS09954,BMG_DS037766,MONDO:0010920 | MeSH ID:C563457 | OMIM ID:600674 | microtia | UMLS ID:C1833486 | Microtia-Anotia +BMGC_DS09955,BMG_DS037767,"OMIM ID:600670 | Varicella, Severe Recurrent | varicella, severe recurrent | MONDO:0010919 | MeSH ID:C563458 | UMLS ID:C1833487" +BMGC_DS09956,BMG_DS037768,OMIM ID:600668 | UMLS ID:C1833499 | MeSH ID:C535938 | Chondrocalcinosis 1 | chondrocalcinosis 1 | MONDO:0010917 +BMGC_DS09957,BMG_DS037769,"autosomal dominant nonsyndromic hearing loss 4A | UMLS ID:C1833503 | Deafness, Autosomal Dominant 4 | MeSH ID:C563460 | MONDO:0010915 | OMIM ID:600652" +BMGC_DS09958,BMG_DS037770,"UMLS ID:C1833508 | OMIM ID:255110 | MONDO:0009704 | carnitine palmitoyl transferase II deficiency, myopathic form" +BMGC_DS09959,BMG_DS037771,"OMIM ID:600650 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | OMIM ID:600649 | MONDO:0010914 | carnitine palmitoyl transferase II deficiency, severe infantile form | UMLS ID:C1833511" +BMGC_DS09960,BMG_DS037772,"MONDO:0012136 | OMIM ID:600650 | UMLS ID:C1833518 | OMIM ID:608836 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | carnitine palmitoyl transferase II deficiency, neonatal form" +BMGC_DS09961,BMG_DS037773,UMLS ID:C1833538 | orofacial cleft 7 | DOID:0060773 | cleft lip-palate-ectodermal dysplasia syndrome | OMIM ID:225060 | MONDO:0700251 | OMIM ID:600644 | OROFACIAL CLEFT 7 +BMGC_DS09962,BMG_DS037775,MONDO:0015797 | UV-sensitive syndrome | DOID:0060240 | UMLS ID:C1833561 | MeSH ID:C563466 | UV-Sensitive Syndrome +BMGC_DS09963,BMG_DS037777,OMIM ID:600624 | Cone-Rod Dystrophy 1 | cone-rod dystrophy 1 | MeSH ID:C563469 | DOID:0111009 | UMLS ID:C1833564 | MONDO:0010905 +BMGC_DS09964,BMG_DS037779,"OMIM ID:600593 | Craniosynostosis, Adelaide Type | MeSH ID:C563471 | craniosynostosis, Adelaide type | UMLS ID:C1833578 | MONDO:0010903" +BMGC_DS09965,BMG_DS037780,"Spondyloepiphyseal Dysplasia with Atlantoaxial Instability | OMIM ID:600561 | UMLS ID:C1833603 | MONDO:0010902 | MeSH ID:C563472 | spondyloepiphyseal dysplasia, Reardon type" +BMGC_DS09966,BMG_DS037781,"OMIM ID:600559 | UMLS ID:C1833607 | Hydrocephalus, endocardial fibroelastosis, and cataracts | MeSH ID:C535855 | MONDO:0010901 | HEC syndrome" +BMGC_DS09967,BMG_DS037782,UMLS ID:C1833661 | PAROXYSMAL EXTREME PAIN DISORDER | OMIM ID:167400 | paroxysmal extreme pain disorder | OMIM ID:603415 | DOID:0111537 | MONDO:0008179 +BMGC_DS09968,BMG_DS037783,inclusion body myopathy with Paget disease of bone and frontotemporal dementia | UMLS ID:C1833662 | MONDO:0000507 +BMGC_DS09969,BMG_DS037784,OMIM ID:167220 | SNOMEDCT ID:722127006 | Epiphyseal stippling with osteoclastic hyperplasia syndrome | Pacman dysplasia | pacman dysplasia | MeSH ID:C538095 | Pacman dysplasia (disorder) | UMLS ID:C1833676 | MONDO:0008175 +BMGC_DS09970,BMG_DS037785,"UMLS ID:C1833683 | MONDO:0957318 | nephrolithiasis, calcium oxalate" +BMGC_DS09971,BMG_DS037786,"MeSH ID:C563478 | MONDO:0008169 | osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension | UMLS ID:C1833688 | OMIM ID:166990 | Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension" +BMGC_DS09972,BMG_DS037787,"MeSH ID:C563479 | UMLS ID:C1833689 | ovalocytosis, hereditary hemolytic, with defective erythropoiesis | Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis | MONDO:0008166 | OMIM ID:166910" +BMGC_DS09973,BMG_DS037789,Otofaciocervical Syndrome | MeSH ID:C563481 | MONDO:0008163 | UMLS ID:C1833691 | otofaciocervical syndrome +BMGC_DS09974,BMG_DS037790,"OMIM ID:166760 | UMLS ID:C1833692 | MONDO:0008162 | otitis media, susceptibility to" +BMGC_DS09975,BMG_DS037791,MeSH ID:C563482 | UMLS ID:C1833693 | Otodental Dysplasia | OMIM ID:166750 | MONDO:0008161 | otodental syndrome +BMGC_DS09976,BMG_DS037792,MeSH ID:C563483 | UMLS ID:C1833697 | osteosclerosis with ichthyosis and fractures | OMIM ID:166740 | Osteosclerosis with Ichthyosis and Fractures | MONDO:0008160 +BMGC_DS09977,BMG_DS037793,Osteopoikilosis and dacryocystitis | OMIM ID:166705 | MeSH ID:C536061 | MONDO:0008158 | dacryocystitis-osteopoikilosis syndrome | UMLS ID:C1833698 +BMGC_DS09978,BMG_DS037794,"MeSH ID:C563484 | isolated osteopoikilosis | UMLS ID:C1833699 | MONDO:0015634 | Osteopoikilosis, Isolated" +BMGC_DS09979,BMG_DS037797,osteomas of mandible | MONDO:0008154 | MeSH ID:C563485 | OMIM ID:166400 | UMLS ID:C1833733 | Osteomas Of Mandible +BMGC_DS09980,BMG_DS037798,"UMLS ID:C1833736 | MeSH ID:C536039 | DOID:0111533 | OMIM ID:166260 | gnathodiaphyseal dysplasia | MONDO:0008151 | Osteogenesis imperfecta, Levin type" +BMGC_DS09981,BMG_DS037800,"MONDO:0008141 | OMIM ID:165680 | UMLS ID:C1833790 | MeSH ID:C537142 | ossicular malformations, familial | Ossicular Malformations, familial" +BMGC_DS09982,BMG_DS037801,OMIM ID:165670 | UMLS ID:C1833791 | MeSH ID:C563488 | MONDO:0008140 | ossified ear cartilages | Ossified Ear Cartilages +BMGC_DS09983,BMG_DS037802,MeSH ID:C537138 | UMLS ID:C1833792 | OSLAM syndrome | OMIM ID:165660 | Oslam syndrome | MONDO:0008139 +BMGC_DS09984,BMG_DS037803,"MeSH ID:C563490 | MONDO:0008138 | syndromic orbital border hypoplasia | Orbital Margin, Hypoplasia of | OMIM ID:165600 | UMLS ID:C1833795" +BMGC_DS09985,BMG_DS037804,DOID:0060380 | OMIM ID:165590 | MONDO:0008137 | MeSH ID:C563491 | Orofaciodigital Syndrome X | UMLS ID:C1833796 | orofaciodigital syndrome X +BMGC_DS09986,BMG_DS037805,"Optic Nerve Hypoplasia, Bilateral | MONDO:0008136 | MeSH ID:C563492 | UMLS ID:C1833797 | OMIM ID:165550 | isolated optic nerve hypoplasia" +BMGC_DS09987,BMG_DS037806,"Optic Nerve Aplasia, Bilateral | UMLS ID:C1833798 | MeSH ID:C563493" +BMGC_DS09988,BMG_DS037808,"MONDO:0008133 | OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT | DOID:0111433 | OMIM ID:165300 | optic atrophy 3 | UMLS ID:C1833809 | OMIM ID:606580" +BMGC_DS09989,BMG_DS037810,"OMIM ID:165199 | Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant | MeSH ID:C563497 | UMLS ID:C1833831 | MONDO:0008131 | optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant" +BMGC_DS09990,BMG_DS037811,"Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency | UMLS ID:C1833835 | ophthalmoplegia-intellectual disability-lingua scrotalis syndrome | MONDO:0008130 | OMIM ID:165150 | MeSH ID:C563498" +BMGC_DS09991,BMG_DS037812,"UMLS ID:C1833836 | MONDO:0008129 | OMIM ID:165098 | MeSH ID:C563499 | ophthalmoplegia, familial total, with iris transillumination | Ophthalmoplegia, Familial Total, with Iris Transillumination" +BMGC_DS09992,BMG_DS037813,"Ophthalmoplegia, Familial Static | MeSH ID:C563500 | OMIM ID:165000 | UMLS ID:C1833839 | ophthalmoplegia, familial static | MONDO:0008128" +BMGC_DS09993,BMG_DS037814,MONDO:0008127 | OMIM ID:164900 | ophthalmomandibulomelic dysplasia | Ophthalmomandibulomelic Dysplasia | UMLS ID:C1833872 | MeSH ID:C563501 +BMGC_DS09994,BMG_DS037815,"UMLS ID:C1833909 | MeSH ID:C563503 | nonsyndromic congenital nail disorder 5 | MONDO:0008125 | OMIM ID:164800 | Onycholysis, Partial, with Scleronychia" +BMGC_DS09995,BMG_DS037816,MONDO:0007958 | UMLS ID:C1833921 | familial medullary thyroid carcinoma | OMIM ID:155240 +BMGC_DS09996,BMG_DS037820,oculopharyngodistal myopathy | MeSH ID:C563508 | MONDO:0025193 | Oculopharyngodistal Myopathy | UMLS ID:C1834014 +BMGC_DS09997,BMG_DS037821,UMLS ID:C1834038 | OMIM ID:164220 | Schilbach-Rott syndrome | MONDO:0008113 +BMGC_DS09998,BMG_DS037823,"UMLS ID:C1834078 | MONDO:0008107 | nystagmus, hereditary vertical | MeSH ID:C537857 | Hereditary vertical nystagmus | OMIM ID:164150" +BMGC_DS09999,BMG_DS037824,"UMLS ID:C1834079 | MONDO:0008106 | Nystagmus 2, congenital, autosomal dominant | OMIM ID:164100 | nystagmus 2, congenital, autosomal dominant | MeSH ID:C537854" +BMGC_DS10000,BMG_DS037826,Noonan like syndrome | MeSH ID:C537846 | UMLS ID:C1834120 +BMGC_DS10001,BMG_DS037827,"Noduli Cutanei, Multiple, with Urinary Tract Abnormalities | MONDO:0008103 | OMIM ID:163850 | UMLS ID:C1834143 | MeSH ID:C563512 | noduli Cutanei, multiple, with urinary tract abnormalities" +BMGC_DS10002,BMG_DS037828,"OMIM ID:163800 | MeSH ID:C563513 | MONDO:0008102 | sick sinus syndrome 2, autosomal dominant | Sick Sinus Syndrome 2, Autosomal Dominant | UMLS ID:C1834144" +BMGC_DS10003,BMG_DS037829,Hypertension Resistant to Conventional Therapy | MeSH ID:C563514 | UMLS ID:C1834155 +BMGC_DS10004,BMG_DS037832,"MONDO:0008084 | MeSH ID:C535714 | neuropathy, congenital, with arthrogryposis multiplex | OMIM ID:162370 | Neuropathy, congenital, with arthrogryposis multiplex | UMLS ID:C1834206" +BMGC_DS10005,BMG_DS037833,"Ceroid Lipofuscinosis, Neuronal, Parry Type | MeSH ID:D009472 | UMLS ID:C1834207 | OMIM ID:162350 | MONDO:0008083 | ceroid lipofuscinosis, neuronal, 4 (Kufs type) | Neuronal Ceroid-Lipofuscinoses" +BMGC_DS10006,BMG_DS037837,"DOID:0070482 | neurofibromatosis, familial spinal | spinal neurofibromatosis | OMIM ID:613113 | NEUROFIBROMATOSIS, FAMILIAL SPINAL | UMLS ID:C1834235 | MONDO:0008078 | OMIM ID:162210" +BMGC_DS10007,BMG_DS037838,"amyotrophic neuralgia | OMIM ID:162100 | MONDO:0008076 | OMIM ID:604061 | AMYOTROPHY, HEREDITARY NEURALGIC | UMLS ID:C1834304" +BMGC_DS10008,BMG_DS037839,retinitis pigmentosa 27 | RETINITIS PIGMENTOSA 27 | OMIM ID:162080 | OMIM ID:613750 | UMLS ID:C1834329 | MONDO:0013402 +BMGC_DS10009,BMG_DS037840,"MeSH ID:C563527 | Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type | UMLS ID:C1834330" +BMGC_DS10010,BMG_DS037841,UMLS ID:C1834339 | DOID:0060239 | Van der Woude syndrome +BMGC_DS10011,BMG_DS037842,"Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult | OMIM ID:161700 | UMLS ID:C1834340 | necrotizing encephalomyelopathy, subacute, of Leigh, adult | MeSH ID:C563530 | MONDO:0008069" +BMGC_DS10012,BMG_DS037843,"OMIM ID:161530 | MONDO:0008066 | nasal hyperpigmentation, familial transverse | NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE | UMLS ID:C1834369" +BMGC_DS10013,BMG_DS037844,"NASAL GROOVE, FAMILIAL TRANSVERSE | OMIM ID:161500 | UMLS ID:C1834370 | nasal groove, familial transverse | MONDO:0008065" +BMGC_DS10014,BMG_DS037845,"UMLS ID:C1834371 | MONDO:0008063 | nasal alar collapse, bilateral | Nasal Alar Collapse, Bilateral | OMIM ID:161470 | MeSH ID:C563533" +BMGC_DS10015,BMG_DS037846,MONDO:0008062 | UMLS ID:C1834372 | narcolepsy 1 | MeSH ID:C563534 | Narcolepsy 1 | OMIM ID:161400 +BMGC_DS10016,BMG_DS037850,"DOID:0110316 | OMIM ID:608758 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 | OMIM ID:160781 | hypertrophic cardiomyopathy 10 | MONDO:0012112 | UMLS ID:C1834460" +BMGC_DS10017,BMG_DS037851,"OMIM ID:613426 | dilated cardiomyopathy 1S | MONDO:0013262 | UMLS ID:C1834481 | OMIM ID:160760 | CARDIOMYOPATHY, DILATED, 1S" +BMGC_DS10018,BMG_DS037852,MONDO:0011128 | UMLS ID:C1834523 | Sheldon-hall syndrome +BMGC_DS10019,BMG_DS037853,"UMLS ID:C1834531 | MONDO:0008053 | MeSH ID:C563541 | OMIM ID:160700 | Myopia 2 | myopia 2, autosomal dominant" +BMGC_DS10020,BMG_DS037854,Myopathy with Storage of Glycoproteins and Glycosaminoglycans | MONDO:0008052 | MeSH ID:C563542 | UMLS ID:C1834532 | OMIM ID:160570 | myopathy with storage of glycoproteins and Glycosaminoglycans +BMGC_DS10021,BMG_DS037856,"Myopathy, Centronuclear, Autosomal Dominant | Myopathies, Structural, Congenital | autosomal dominant centronuclear myopathy | UMLS ID:C1834558 | DOID:0111217 | MeSH ID:D020914" +BMGC_DS10022,BMG_DS037857,"Continuous Muscle Fiber Activity, Hereditary | hereditary continuous muscle fiber activity | MeSH ID:C563545 | UMLS ID:C1834559 | MONDO:0019943" +BMGC_DS10023,BMG_DS037858,"Myoglobinuria, Autosomal Dominant | UMLS ID:C1834567 | MeSH ID:C563546 | autosomal dominant myoglobinuria | MONDO:0008046 | OMIM ID:160010" +BMGC_DS10024,BMG_DS037859,MeSH ID:C537563 | spinal muscular atrophy with progressive myoclonic epilepsy | OMIM ID:159950 | DOID:0111527 | spinal muscular atrophy-progressive myoclonic epilepsy syndrome | MONDO:0008045 | Jankovic Rivera syndrome | UMLS ID:C1834569 +BMGC_DS10025,BMG_DS037860,MONDO:0008044;MONDO:0000903 | MeSH ID:C536096 | DOID:0090033 | myoclonus-dystonia syndrome | myoclonic dystonia 11 | OMIM ID:159900 | UMLS ID:C1834570 | Myoclonic dystonia (disorder) | myoclonic dystonia | SNOMEDCT ID:439732004 | Myoclonic dystonia +BMGC_DS10026,BMG_DS037861,"OMIM ID:159800 | MONDO:0008043 | UMLS ID:C1834579 | myoclonus-cerebellar ataxia-deafness syndrome | Myoclonus, Cerebellar Ataxia, and Deafness | MeSH ID:C563549" +BMGC_DS10027,BMG_DS037863,"MeSH ID:C563550 | Myoclonic Epilepsy, Hartung Type | MONDO:0008041 | UMLS ID:C1834581 | OMIM ID:159600 | myoclonic epilepsy, Hartung type" +BMGC_DS10028,BMG_DS037864,transient myeloproliferative syndrome | OMIM ID:159595 | UMLS ID:C1834582 | MONDO:0008040 +BMGC_DS10029,BMG_DS037865,myelinated optic nerve fibers | MONDO:0008037 | OMIM ID:159500 | UMLS ID:C1834600 +BMGC_DS10030,BMG_DS037866,"MeSH ID:C563552 | MONDO:0008036 | myasthenia, limb-girdle, autoimmune | Myasthenia, Limb-Girdle, Autoimmune | OMIM ID:159400 | UMLS ID:C1834635" +BMGC_DS10031,BMG_DS037868,"UMLS ID:C1834652 | MeSH ID:C563554 | OMIM ID:159050 | MONDO:0008034 | muscular dystrophy, pseudohypertrophic, with Internalized capillaries | Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries" +BMGC_DS10032,BMG_DS037870,"Muscular dystrophy, limb-girdle, type 1A | UMLS ID:C1834659 | MeSH ID:C535906" +BMGC_DS10033,BMG_DS037871,facioscapulohumeral muscular dystrophy 2 | OMIM ID:158901 | MONDO:0008031 | UMLS ID:C1834671 +BMGC_DS10034,BMG_DS037872,MeSH ID:C536391 | Facioscapulohumeral muscular dystrophy 1a | UMLS ID:C1834673 +BMGC_DS10035,BMG_DS037873,Bethlem myopathy | OMIM ID:158810 | BETHLEM MYOPATHY 1 | MONDO:0008029 | UMLS ID:C1834674 +BMGC_DS10036,BMG_DS037874,"Muscular Dystrophy, Barnes Type | OMIM ID:158800 | MONDO:0008028 | MeSH ID:C563558 | muscular dystrophy, Barnes type | UMLS ID:C1834688" +BMGC_DS10037,BMG_DS037875,"Muscular Atrophy, Malignant Neurogenic | UMLS ID:C1834689 | MONDO:0008027 | MeSH ID:C563559 | muscular atrophy, malignant neurogenic | OMIM ID:158650" +BMGC_DS10038,BMG_DS037876,"autosomal dominant childhood-onset proximal spinal muscular atrophy | UMLS ID:C1834690 | MONDO:0018190 | Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant | MeSH ID:C563560" +BMGC_DS10039,BMG_DS037877,"OMIM ID:158590 | UMLS ID:C1834692 | neuronopathy, distal hereditary motor, type 2A | MONDO:0008025" +BMGC_DS10040,BMG_DS037878,"neuronopathy, distal hereditary motor, type 7A | OMIM ID:158580 | MeSH ID:C563562 | UMLS ID:C1834703 | MONDO:0008024 | Neuropathy, Distal Hereditary Motor, Type VIIA" +BMGC_DS10041,BMG_DS037879,"Muscle Cramps, Familial | UMLS ID:C1834708 | MONDO:0008022 | MeSH ID:C563563 | muscle cramps, familial | OMIM ID:158400" +BMGC_DS10042,BMG_DS037880,UMLS ID:C1834711 | CEREBELLOPARENCHYMAL DISORDER VI | OMIM ID:158350 +BMGC_DS10043,BMG_DS037883,UMLS ID:C1834724 | MONDO:0008020 | Multiple Exostoses with Spastic Tetraparesis | MeSH ID:C563566 | OMIM ID:158345 | multiple exostoses with spastic tetraparesis +BMGC_DS10044,BMG_DS037884,OMIM ID:158250 | NONDISJUNCTION | MONDO:0008014 | UMLS ID:C1834741 | nondisjunction +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 | MeSH ID:C563570 | UMLS ID:C1834753 | OMIM ID:158100 | Monophalangy of great toe | MONDO:0008012 +BMGC_DS10047,BMG_DS037889,UMLS ID:C1834759 | MONDO:0008008 | MeSH ID:C535812 | OMIM ID:157980 | MOMO syndrome | Macrosomia obesity macrocephaly ocular abnormalities +BMGC_DS10048,BMG_DS037890,UMLS ID:C1834819 | OMIM ID:157700 | MVP1 | MYXOMATOUS MITRAL VALVE PROLAPSE 1 | MONDO:0024529 +BMGC_DS10049,BMG_DS037891,MONDO:0009601 | metaphyseal dysplasia without hypotrichosis | METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS | UMLS ID:C1834821 | OMIM ID:250460 | OMIM ID:157660 +BMGC_DS10050,BMG_DS037892,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | MeSH ID:C563575 | MONDO:0024528 | OMIM ID:157640 | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | UMLS ID:C1834846" +BMGC_DS10051,BMG_DS037894,mirror movements 1 | UMLS ID:C1834870 | MONDO:0008002 | OMIM ID:157600 +BMGC_DS10052,BMG_DS037896,UMLS ID:C1834877 | holoprosencephaly 2 | Holoprosencephaly 2 | OMIM ID:157170 | MONDO:0007999 | MeSH ID:C563579 | DOID:0110872 +BMGC_DS10053,BMG_DS037899,"OMIM ID:156900 | Microphthalmia, Isolated, With Corectopia | MeSH ID:C563581 | microphthalmia, isolated, with corectopia | MONDO:0007996 | UMLS ID:C1834918" +BMGC_DS10054,BMG_DS037900,"OMIM ID:156850 | MONDO:0007995 | MeSH ID:C563582 | Microphthalmia, Isolated, with Cataract 1 | microphthalmia, isolated, with cataract 1 | UMLS ID:C1834919" +BMGC_DS10055,BMG_DS037901,micromelic bone dysplasia with cloverleaf skull | Cloverleaf skull micromelia thoracic dysplasia | UMLS ID:C1834928 | MONDO:0007994 | MeSH ID:C536429 | OMIM ID:156830 +BMGC_DS10056,BMG_DS037903,"microcornea-glaucoma-absent frontal sinuses syndrome | UMLS ID:C1834935 | Microcornea, glaucoma, and absent frontal sinuses | OMIM ID:156700 | MONDO:0007992 | MeSH ID:C537552" +BMGC_DS10057,BMG_DS037904,"MeSH ID:C563585 | OMIM ID:156520 | MONDO:0007985 | Metatarsus Varus, Type I | metatarsus varus, type 1 | UMLS ID:C1834968" +BMGC_DS10058,BMG_DS037905,MeSH ID:C563586 | UMLS ID:C1834969 | Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly +BMGC_DS10059,BMG_DS037908,"UMLS ID:C1835009 | MESOMELIC DYSPLASIA, KANTAPUTRA TYPE | mesomelic dysplasia, Kantaputra type | MONDO:0007977 | OMIM ID:156232" +BMGC_DS10060,BMG_DS037910,"OMIM ID:156220 | MONDO:0007975 | meralgia paraesthetica, familial | Meralgia Paraesthetica, Familial | UMLS ID:C1835026 | MeSH ID:C563590" +BMGC_DS10061,BMG_DS037911,MeSH ID:C563591 | Mental and Growth Retardation with Amblyopia | UMLS ID:C1835028 | OMIM ID:156190 | MONDO:0007973 | mental and growth retardation with amblyopia +BMGC_DS10062,BMG_DS037912,"delayed membranous cranial ossification | MONDO:0007971 | Membranous Cranial Ossification, Delayed | UMLS ID:C1835030 | OMIM ID:155980 | MeSH ID:C563592" +BMGC_DS10063,BMG_DS037915,UMLS ID:C1835042 | MONDO:0007967 | OMIM ID:155755 | DOID:0111511 | melanoma and neural system tumor syndrome +BMGC_DS10064,BMG_DS037916,"melanoma, malignant familial intraocular | MONDO:0007965 | UMLS ID:C1835043 | OMIM ID:155700" +BMGC_DS10065,BMG_DS037917,"UMLS ID:C1835044 | OMIM ID:155601 | melanoma, cutaneous malignant, susceptibility to, 2 | MONDO:0007964" +BMGC_DS10066,BMG_DS037918,"UMLS ID:C1835047 | OMIM ID:155600 | MONDO:0007963 | melanoma, cutaneous malignant, susceptibility to, 1" +BMGC_DS10067,BMG_DS037920,UMLS ID:C1835085 | OMIM ID:155200 | MONDO:0007957 | mediosternal depigmentation line +BMGC_DS10068,BMG_DS037922,"MeSH ID:C536135 | Pai syndrome | MONDO:0007956 | OMIM ID:155145 | Median cleft lip, corpus callosum, lipoma, and skin polyps | UMLS ID:C1835087" +BMGC_DS10069,BMG_DS037923,maxillofacial dysostosis | Maxillofacial Dysostosis | UMLS ID:C1835088 | OMIM ID:155000 | MeSH ID:C563599 | MONDO:0007952 +BMGC_DS10070,BMG_DS037926,"mannose 6-phosphate receptor recognition defect, Lebanese type | UMLS ID:C1835134 | MONDO:0007945 | MeSH ID:C563601 | Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type | OMIM ID:154570" +BMGC_DS10071,BMG_DS037927,OMIM ID:154300 | UMLS ID:C1835159 | malocclusion due to protuberant upper front teeth | MONDO:0007941 +BMGC_DS10072,BMG_DS037930,"renal hypomagnesemia 2 | OMIM ID:154020 | MONDO:0007937 | MeSH ID:C537152 | UMLS ID:C1835171 | Hypomagnesemia 2, renal" +BMGC_DS10073,BMG_DS037932,"MONDO:0007936 | UMLS ID:C1835173 | macular dystrophy, fenestrated sheen type | Macular Dystrophy, Fenestrated Sheen Type | OMIM ID:153890 | MeSH ID:C563607" +BMGC_DS10074,BMG_DS037933,"MACULAR DYSTROPHY, ATYPICAL VITELLIFORM | OMIM ID:153840 | UMLS ID:C1835178" +BMGC_DS10075,BMG_DS037934,"UMLS ID:C1835192 | MONDO:0100281 | OMIM ID:153600 | macroglobulinemia, Waldenstrom, 1 | MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1" +BMGC_DS10076,BMG_DS037935,"MONDO:0100232 | UMLS ID:C1835223 | psoriatic arthritis, susceptibility to | OMIM ID:607507" +BMGC_DS10077,BMG_DS037936,"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Lymphedema, microcephaly and chorioretinopathy syndrome | DOID:0060349 | UMLS ID:C1835265 | microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | MONDO:0007918 | MeSH ID:C537711 | OMIM ID:152950" +BMGC_DS10078,BMG_DS037937,UMLS ID:C1835272 | lymphedema-cerebral arteriovenous anomaly syndrome | OMIM ID:152900 | Lymphedema and Cerebral Arteriovenous Anomaly | MONDO:0007917 | MeSH ID:C563612 +BMGC_DS10079,BMG_DS037939,"Lumbar Stenosis, Familial | UMLS ID:C1835320 | lumbar stenosis, familial | OMIM ID:152550 | MeSH ID:C563613 | MONDO:0007914" +BMGC_DS10080,BMG_DS037941,MONDO:0007912 | lithium transport | UMLS ID:C1835356 | OMIM ID:152420 +BMGC_DS10081,BMG_DS037945,"MeSH ID:C563618 | UMLS ID:C1835362 | Lp(A) Deficiency, Congenital" +BMGC_DS10082,BMG_DS037947,OMIM ID:151700 | lipoma of the conjunctiva | MONDO:0007907 | UMLS ID:C1835373 +BMGC_DS10083,BMG_DS037948,"lip, hamartomatous | UMLS ID:C1835395 | MeSH ID:C563621 | Lip, Hamartomatous | MONDO:0007905 | OMIM ID:151640" +BMGC_DS10084,BMG_DS037949,median nodule of the upper lip | UMLS ID:C1835396 | Median nodule of upper lip (disorder) | MONDO:0007904 | Median nodule of upper lip | SNOMEDCT ID:722034006 | OMIM ID:151630 +BMGC_DS10085,BMG_DS037950,OMIM ID:191170 | UMLS ID:C1835398 | LI-FRAUMENI SYNDROME 1 +BMGC_DS10086,BMG_DS037951,"lichen planus, familial | UMLS ID:C1835402 | MeSH ID:C563624 | OMIM ID:151620 | Lichen Planus, Familial | MONDO:0007902" +BMGC_DS10087,BMG_DS037952,levator-medial rectus synkinesis | MONDO:0007901 | OMIM ID:151610 | Levator-Medial Rectus Synkinesis | UMLS ID:C1835403 | MeSH ID:C563625 +BMGC_DS10088,BMG_DS037953,"MONDO:0007898 | Leukocyte Nuclear Appendages, Hereditary Prevalence of | OMIM ID:151500 | MeSH ID:C563626 | leukocyte nuclear appendages, hereditary prevalence of | UMLS ID:C1835405" +BMGC_DS10089,BMG_DS037954,"UMLS ID:C1835407 | MONDO:0012292 | OMIM ID:609532 | hepatitis C virus, susceptibility to" +BMGC_DS10090,BMG_DS037955,"Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | platyspondylic dysplasia, Torrance type | MONDO:0007895 | OMIM ID:151210 | MeSH ID:C563627 | Torrance type platyspondylic dysplasia | UMLS ID:C1835437 | DOID:0111508" +BMGC_DS10091,BMG_DS037956,Leri pleonosteosis | OMIM ID:151200 | UMLS ID:C1835450 | MeSH ID:C537118 | MONDO:0007894 +BMGC_DS10092,BMG_DS037957,"UMLS ID:C1835484 | lentiginosis, centrofacial neurodysraphic | OMIM ID:151000 | Lentiginosis, Centrofacial Neurodysraphic | MeSH ID:C563630 | MONDO:0007890" +BMGC_DS10093,BMG_DS037958,leiomyoma of vulva and esophagus | UMLS ID:C1835488 | MONDO:0007887 | OMIM ID:150700 +BMGC_DS10094,BMG_DS037961,"MeSH ID:C563634 | MONDO:0007881 | UMLS ID:C1835492 | tooth agenesis, selective, 4 | Tooth Agenesis, Selective, 4 | OMIM ID:150400" +BMGC_DS10095,BMG_DS037962,"Succedaneous Teeth, Agenesis Of | MeSH ID:C563634 | UMLS ID:C1835493" +BMGC_DS10096,BMG_DS037964,"MeSH ID:C563640 | UMLS ID:C1835591 | Lactic Acidosis, Chronic Adult Form | OMIM ID:150170 | MONDO:0007873 | lactic acidosis, chronic adult form" +BMGC_DS10097,BMG_DS037965,familial congenital nasolacrimal duct obstruction | MONDO:0007871 | UMLS ID:C1835612 | OMIM ID:149700 +BMGC_DS10098,BMG_DS037966,"UMLS ID:C1835613 | labia minora, incomplete adhesion of | MONDO:0007870 | OMIM ID:149600" +BMGC_DS10099,BMG_DS037967,hereditary hyperekplexia | UMLS ID:C1835614 | MONDO:0021022 +BMGC_DS10100,BMG_DS037968,MONDO:0007860 | Keratosis focal palmoplantar gingival | focal palmoplantar and gingival keratosis | focal palmoplantar and gingival keratoderma | MeSH ID:C536157 | DOID:0070553 | OMIM ID:148730 | UMLS ID:C1835650 +BMGC_DS10101,BMG_DS037969,Keratosis palmoplantaris papulosa | MONDO:0019332 | UMLS ID:C1835662 | punctate palmoplantar keratoderma type 1 | MeSH ID:C536161 +BMGC_DS10102,BMG_DS037970,MeSH ID:C563646 | Keratosis Palmaris et Plantaris with Clinodactyly | keratosis palmaris et plantaris-clinodactyly syndrome | OMIM ID:148520 | MONDO:0007857 | UMLS ID:C1835663 +BMGC_DS10103,BMG_DS037971,MONDO:0007856 | palmoplantar keratoderma-esophageal carcinoma syndrome | UMLS ID:C1835664 | DOID:0111506 | OMIM ID:148500 +BMGC_DS10104,BMG_DS037972,OMIM ID:148360 | UMLS ID:C1835671 | Keratoderma palmoplantar spastic paralysis | palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome | MONDO:0007853 | MeSH ID:C536153 +BMGC_DS10105,BMG_DS037973,MeSH ID:C536152 | MONDO:0007852 | DOID:0111505 | OMIM ID:148350 | palmoplantar keratoderma-deafness syndrome | Palmoplantar Keratoderma with Deafness | UMLS ID:C1835672 +BMGC_DS10106,BMG_DS037974,MONDO:0007851 | OMIM ID:148300 | keratoconus 1 | MeSH ID:C563649 | UMLS ID:C1835677 | Keratoconus 1 +BMGC_DS10107,BMG_DS037975,MONDO:0007849 | keratitis fugax hereditaria | Keratitis Fugax Hereditaria | UMLS ID:C1835697 | OMIM ID:148200 | MeSH ID:C563650 +BMGC_DS10108,BMG_DS037976,"Keratitis, hereditary | MeSH ID:C537022 | MONDO:0007848 | OMIM ID:148190 | autosomal dominant keratitis | UMLS ID:C1835698 | DOID:0111383" +BMGC_DS10109,BMG_DS037977,"UMLS ID:C1835713 | cirrhosis, noncryptogenic, susceptibility to | MONDO:0800422" +BMGC_DS10110,BMG_DS037980,"OMIM ID:615953 | MONDO:0014415 | kallikrein, decreased urinary activity of | UMLS ID:C1835808" +BMGC_DS10111,BMG_DS037981,MONDO:0012570 | OMIM ID:610842 | Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency | body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | UMLS ID:C1835813 | MeSH ID:C563654 +BMGC_DS10112,BMG_DS037982,"MeSH ID:C563655 | mitral valve prolapse, myxomatous 3 | MONDO:0012569 | Mitral Valve Prolapse, Myxomatous 3 | OMIM ID:610840 | UMLS ID:C1835814" +BMGC_DS10113,BMG_DS037984,"UMLS ID:C1835817 | MONDO:0012565 | Fanconi anemia complementation group N | OMIM ID:610355 | FANCONI ANEMIA, COMPLEMENTATION GROUP N | DOID:0111094 | OMIM ID:610832" +BMGC_DS10114,BMG_DS037986,MeSH ID:C563659 | Holoprosencephaly 9 | UMLS ID:C1835819 | MONDO:0012563 | DOID:0110873 | holoprosencephaly 9 | OMIM ID:610829 +BMGC_DS10115,BMG_DS037987,MONDO:0012562 | OMIM ID:601309 | HOLOPROSENCEPHALY 7 | OMIM ID:610828 | UMLS ID:C1835820 | holoprosencephaly 7 +BMGC_DS10116,BMG_DS037988,MONDO:0012561 | UMLS ID:C1835826 | congenital anomalies of kidney and urinary tract 1 | OMIM ID:610805 +BMGC_DS10117,BMG_DS037989,primary immunodeficiency syndrome due to p14 deficiency | MeSH ID:C563663 | Immunodeficiency due to Defect in MAPBP-Interacting Protein | OMIM ID:610798 | MONDO:0012559 | UMLS ID:C1835829 +BMGC_DS10118,BMG_DS037990,"Epiphyseal Dysplasia, Baumann Type | MONDO:0012558 | epiphyseal dysplasia, Baumann type | MeSH ID:C563664 | OMIM ID:610797 | UMLS ID:C1835830" +BMGC_DS10119,BMG_DS037991,Mitochondrial Phosphate Carrier Deficiency | cardiomyopathy-hypotonia-lactic acidosis syndrome | MeSH ID:C563665 | OMIM ID:610773 | UMLS ID:C1835845 | MONDO:0012557 +BMGC_DS10120,BMG_DS037992,"MeSH ID:C563666 | DK1-congenital disorder of glycosylation | OMIM ID:610768 | Congenital Disorder Of Glycosylation, Type Im | MONDO:0012556 | UMLS ID:C1835849" +BMGC_DS10121,BMG_DS037993,"UMLS ID:C1835851 | OMIM ID:602400 | autosomal recessive congenital ichthyosis 11 | MONDO:0011218 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 | OMIM ID:606797" +BMGC_DS10122,BMG_DS037994,Alopecia-Mental Retardation Syndrome 2 | UMLS ID:C1835852 | DOID:0080629 | alopecia-mental retardation syndrome 2 | MONDO:0012487 | OMIM ID:610422 | alopecia-intellectual disability syndrome 2 | MeSH ID:C563668 +BMGC_DS10123,BMG_DS037995,"MONDO:0012485 | autosomal recessive nonsyndromic hearing loss 68 | UMLS ID:C1835854 | OMIM ID:610419 | DEAFNESS, AUTOSOMAL RECESSIVE 68 | OMIM ID:605111" +BMGC_DS10124,BMG_DS037997,DOID:0111018 | Cone-Rod Dystrophy 11 | UMLS ID:C1835865 | MeSH ID:C563671 | cone-rod dystrophy 11 | MONDO:0012483 | OMIM ID:610381 +BMGC_DS10125,BMG_DS037998,"UMLS ID:C1835867 | MONDO:0012482 | OMIM ID:610379 | West Nile virus, susceptibility to" +BMGC_DS10126,BMG_DS038000,"diabetes mellitus, transient neonatal, 2 | MeSH ID:C563672 | UMLS ID:C1835887 | MONDO:0012480 | OMIM ID:610374 | Diabetes Mellitus, Transient Neonatal, 2" +BMGC_DS10127,BMG_DS038001,"MONDO:0012479 | Diarrhea 4, Malabsorptive, Congenital | MeSH ID:C563673 | UMLS ID:C1835888 | OMIM ID:610370 | congenital malabsorptive diarrhea 4" +BMGC_DS10128,BMG_DS038002,UMLS ID:C1835894 | orofacial cleft 9 | DOID:0080402 | OMIM ID:610361 | MeSH ID:C563675 | Orofacial Cleft 9 | MONDO:0012478 +BMGC_DS10129,BMG_DS038003,OMIM ID:610359 | retinitis pigmentosa 33 | DOID:0110366 | MONDO:0012477 | UMLS ID:C1835895 | MeSH ID:C563676 | Retinitis Pigmentosa 33 +BMGC_DS10130,BMG_DS038004,"Spastic Paraplegia 30, Autosomal Recessive | UMLS ID:C1835896 | MeSH ID:C563677" +BMGC_DS10131,BMG_DS038005,UMLS ID:C1835897 | retinal cone dystrophy 3B | MONDO:0012475 | DOID:0081022 | MeSH ID:C563678 | OMIM ID:610356 | cone dystrophy with supernormal rod response | Retinal Cone Dystrophy 3B +BMGC_DS10132,BMG_DS038006,"Epilepsy, Nocturnal Frontal Lobe, Type 4 | UMLS ID:C1835905 | OMIM ID:610353 | autosomal dominant nocturnal frontal lobe epilepsy 4 | MONDO:0012474 | MeSH ID:C563679" +BMGC_DS10133,BMG_DS038007,"right pulmonary artery, anomalous origin of, familial | MONDO:0012473 | OMIM ID:610338 | Familial anomalous origin of right pulmonary artery | MeSH ID:C535681 | UMLS ID:C1835910" +BMGC_DS10134,BMG_DS038008,Aicardi-Goutieres syndrome 4 | UMLS ID:C1835912 | OMIM ID:610333 | AICARDI-GOUTIERES SYNDROME 4 | OMIM ID:606034 | MONDO:0012472 +BMGC_DS10135,BMG_DS038010,OMIM ID:610329 | MONDO:0012471 | Aicardi-Goutieres syndrome 3 | OMIM ID:610330 | AICARDI-GOUTIERES SYNDROME 3 | UMLS ID:C1835916 +BMGC_DS10136,BMG_DS038011,"MONDO:0012369 | systemic lupus erythematosus, susceptibility to, 6 | OMIM ID:609939 | UMLS ID:C1835919" +BMGC_DS10137,BMG_DS038012,UMLS ID:C1835922 | Deficiency of aminoacylase 1 (disorder) | OMIM ID:609924 | aminoacylase 1 deficiency | MONDO:0012368 | Aminoacylase 1 deficiency | SNOMEDCT ID:709282004 | MeSH ID:C538246 | Deficiency of aminoacylase 1 +BMGC_DS10138,BMG_DS038013,retinitis pigmentosa 31 | OMIM ID:609923 | Retinitis Pigmentosa 31 | UMLS ID:C1835923 | MONDO:0012367 | MeSH ID:C563685 | DOID:0110391 +BMGC_DS10139,BMG_DS038016,"OMIM ID:609915 | MeSH ID:C563688 | MONDO:0012364 | Cardiomyopathy, Dilated, 1q | dilated cardiomyopathy 1Q | UMLS ID:C1835926" +BMGC_DS10140,BMG_DS038017,OMIM ID:609913 | MeSH ID:C563689 | UMLS ID:C1835927 | MONDO:0012363 | DOID:0110355 | Retinitis Pigmentosa 32 | retinitis pigmentosa 32 +BMGC_DS10141,BMG_DS038018,"OMIM ID:172405 | CARDIOMYOPATHY, DILATED, 1P | dilated cardiomyopathy 1P | MONDO:0012362 | UMLS ID:C1835928 | OMIM ID:609909" +BMGC_DS10142,BMG_DS038020,"OMIM ID:179615 | combined immunodeficiency due to partial RAG1 deficiency | ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY | OMIM ID:609889 | UMLS ID:C1835931 | MONDO:0012359" +BMGC_DS10143,BMG_DS038021,"MONDO:0012358 | OMIM ID:609888 | leprosy, susceptibility to, 1 | UMLS ID:C1835932" +BMGC_DS10144,BMG_DS038022,"obsolete glaucoma 1, open angle, G | MeSH ID:C563692 | Glaucoma 1, Open Angle, G | OMIM ID:609887 | MONDO:0012357 | UMLS ID:C1835933" +BMGC_DS10145,BMG_DS038027,OMIM ID:609566 | parietal foramina 3 | PARIETAL FORAMINA 3 | UMLS ID:C1835980 | MONDO:0012302 +BMGC_DS10146,BMG_DS038029,nanophthalmos 2 | MeSH ID:C563700 | MONDO:0012299 | UMLS ID:C1836006 | Nanophthalmos 2 | OMIM ID:609549 +BMGC_DS10147,BMG_DS038031,"OMIM ID:609541 | MeSH ID:C563702 | MONDO:0012297 | UMLS ID:C1836010 | SPOAN syndrome | spastic paraplegia, optic atropy, and neuropathy | DOID:0060491 | Spastic Paraplegia, Optic Atrophy, and Neuropathy" +BMGC_DS10148,BMG_DS038034,"UMLS ID:C1836023 | MeSH ID:C563703 | Drug Metabolism, Poor, CYP2C19-Related" +BMGC_DS10149,BMG_DS038035,"Deafness, Autosomal Recessive 23 | UMLS ID:C1836027 | MeSH ID:C563705 | autosomal recessive nonsyndromic hearing loss 23 | MONDO:0012293 | OMIM ID:609533" +BMGC_DS10150,BMG_DS038036,MONDO:0012291 | immunoglobulin A deficiency 2 | Immunoglobulin a deficiency 2 | OMIM ID:609529 | MeSH ID:C536291 | UMLS ID:C1836032 +BMGC_DS10151,BMG_DS038037,"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | MONDO:0012290 | DOID:0060337 | OMIM ID:609528 | CEDNIK syndrome | MeSH ID:C537943 | UMLS ID:C1836033" +BMGC_DS10152,BMG_DS038038,"MeSH ID:C537932 | myofibrillar myopathy 5 | Filaminopathy, autosomal dominant | OMIM ID:609524 | MONDO:0012289 | UMLS ID:C1836050" +BMGC_DS10153,BMG_DS038040,"MeSH ID:C563709 | OMIM ID:609508 | MONDO:0012287 | Stickler syndrome, type I, nonsyndromic ocular | Stickler Syndrome, Type I, Nonsyndromic Ocular | UMLS ID:C1836080" +BMGC_DS10154,BMG_DS038041,"autosomal dominant rhegmatogenous retinal detachment | OMIM ID:609508 | OMIM ID:120140 | MONDO:0016202 | RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT | UMLS ID:C1836081" +BMGC_DS10155,BMG_DS038042,LEFT VENTRICULAR NONCOMPACTION 2 | OMIM ID:609470 | UMLS ID:C1836118 | left ventricular noncompaction 2 | MONDO:0012285 +BMGC_DS10156,BMG_DS038045,UMLS ID:C1836121 | MeSH ID:C536817 | OMIM ID:609465 | MONDO:0012282 | Al-Gazali Syndrome | Al-Gazali syndrome +BMGC_DS10157,BMG_DS038046,"UMLS ID:C1836122 | SARCOIDOSIS, EARLY-ONSET | OMIM ID:186580" +BMGC_DS10158,BMG_DS038047,UMLS ID:C1836123 | MeSH ID:C537279 | OMIM ID:609460 | MONDO:0012280 | DOID:0060481 | Goldberg-Shprintzen syndrome | Goldberg-Shprintzen megacolon syndrome +BMGC_DS10159,BMG_DS038049,"OMIM ID:609454 | MeSH ID:C563717 | Supranuclear Palsy, Progressive, 2 | MONDO:0012278 | supranuclear palsy, progressive, 2 | UMLS ID:C1836148" +BMGC_DS10160,BMG_DS038050,"MeSH ID:C563718 | UMLS ID:C1836155 | Myopathy, Myofibrillar, Zasp-Related" +BMGC_DS10161,BMG_DS038051,Generalized Epilepsy and Paroxysmal Dyskinesia | MeSH ID:C563719 | UMLS ID:C1836173 +BMGC_DS10162,BMG_DS038052,"UMLS ID:C1836182 | Chondrodysplasia, acromesomelic, with genital anomalies | MeSH ID:C537913" +BMGC_DS10163,BMG_DS038053,"DEAFNESS, AUTOSOMAL RECESSIVE 48 | OMIM ID:605564 | UMLS ID:C1836199 | autosomal recessive nonsyndromic hearing loss 48 | MONDO:0012273 | OMIM ID:609439" +BMGC_DS10164,BMG_DS038054,"MeSH ID:C537452 | UMLS ID:C1836202 | intellectual disability, keratoconus, febrile seizures, and sinoatrial block | Mental retardation, keratoconus, febrile seizures, and sinoatrial block | MONDO:0012272 | OMIM ID:609438" +BMGC_DS10165,BMG_DS038055,"MeSH ID:C563721 | mesoaxial synostotic syndactyly with phalangeal reduction | Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction | MONDO:0012271 | UMLS ID:C1836206 | OMIM ID:609432" +BMGC_DS10166,BMG_DS038056,Tukel syndrome | MONDO:0012270 | OMIM ID:609428 | MeSH ID:C536925 | DOID:0081021 | UMLS ID:C1836217 +BMGC_DS10167,BMG_DS038057,UMLS ID:C1836230 | susceptibility to HIV infection | OMIM ID:609423 | MONDO:0004951 +BMGC_DS10168,BMG_DS038058,UMLS ID:C1836254 | MeSH ID:C563723 | OMIM ID:609408 | DOID:0110879 | holoprosencephaly 8 | Holoprosencephaly 8 | MONDO:0012267 +BMGC_DS10169,BMG_DS038059,MONDO:0012266 | MeSH ID:C563724 | UMLS ID:C1836255 | OMIM ID:609404 | Preeclampsia Eclampsia 4 | preeclampsia/eclampsia 4 +BMGC_DS10170,BMG_DS038064,"Cataract, Congenital Nuclear, Autosomal Recessive 1 | cataract 35 | OMIM ID:609376 | UMLS ID:C1836272 | MeSH ID:C563728 | MONDO:0012260" +BMGC_DS10171,BMG_DS038065,"OMIM ID:609352 | Epidermolysis Bullosa Simplex with Migratory Circinate Erythema | MONDO:0012258 | MeSH ID:C563730 | UMLS ID:C1836284 | epidermolysis bullosa simplex 2E, with migratory circinate erythema" +BMGC_DS10172,BMG_DS038067,"OMIM ID:609340 | UMLS ID:C1836295 | MONDO:0012256 | Spastic Paraplegia 28, Autosomal Recessive | hereditary spastic paraplegia 28 | MeSH ID:C563732" +BMGC_DS10173,BMG_DS038068,Carotid Intimal Medial Thickness 1 | MeSH ID:C563733 | UMLS ID:C1836302 +BMGC_DS10174,BMG_DS038071,"multiple epiphyseal dysplasia, with severe proximal femoral dysplasia | MONDO:0012253 | OMIM ID:609324 | UMLS ID:C1836315" +BMGC_DS10175,BMG_DS038072,rhabdoid tumor predisposition syndrome 1 | MONDO:0012252 | Rhabdoid Tumor Predisposition Syndrome 1 | MeSH ID:C563738 | OMIM ID:609322 | UMLS ID:C1836327 +BMGC_DS10176,BMG_DS038073,UMLS ID:C1836330 | MeSH ID:C563739 | MEDNIK syndrome | OMIM ID:609313 | MONDO:0012251 | Erythrokeratodermia Variabilis 3 +BMGC_DS10177,BMG_DS038074,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H | UMLS ID:C1836336 | OMIM ID:609311 | OMIM ID:611104 | Charcot-Marie-Tooth disease type 4H | MONDO:0012250" +BMGC_DS10178,BMG_DS038075,"MONDO:0012248 | autosomal recessive limb-girdle muscular dystrophy type 2K | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | UMLS ID:C1836373 | OMIM ID:609308" +BMGC_DS10179,BMG_DS038076,OMIM ID:609307 | MONDO:0012247 | spinocerebellar ataxia type 27 | SPINOCEREBELLAR ATAXIA 27 | UMLS ID:C1836383 | OMIM ID:193003 | DOID:0050976 +BMGC_DS10180,BMG_DS038077,SPINOCEREBELLAR ATAXIA 26 | spinocerebellar ataxia type 26 | MONDO:0012246 | OMIM ID:609306 | OMIM ID:130610 | UMLS ID:C1836395 +BMGC_DS10181,BMG_DS038079,"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | OMIM ID:609296 | MeSH ID:C563745 | B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations | MONDO:0012243 | UMLS ID:C1836437" +BMGC_DS10182,BMG_DS038080,"Familial neurocardiogenic syncope | syncope, familial vasovagal | OMIM ID:609289 | MONDO:0012242 | MeSH ID:C536849 | UMLS ID:C1836438" +BMGC_DS10183,BMG_DS038081,"MONDO:0012241 | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | OMIM ID:609286 | UMLS ID:C1836439 | MeSH ID:C563747" +BMGC_DS10184,BMG_DS038082,Nemaline myopathy 4 | congenital myopathy 23 | nemaline myopathy 4 | MeSH ID:C538351 | OMIM ID:609285 | DOID:0110932 | MONDO:0012240 | UMLS ID:C1836447 +BMGC_DS10185,BMG_DS038083,Nemaline myopathy 1 | UMLS ID:C1836448 | nemaline myopathy 1 | DOID:0110926 | MeSH ID:C538348 +BMGC_DS10186,BMG_DS038084,"OMIM ID:609283 | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 | MONDO:0012238 | MeSH ID:C563750 | UMLS ID:C1836460 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" +BMGC_DS10187,BMG_DS038085,DOID:0110935 | OMIM ID:609273 | MeSH ID:C538398 | MONDO:0012237 | Nemaline myopathy 6 | UMLS ID:C1836472 | nemaline myopathy 6 +BMGC_DS10188,BMG_DS038087,"DOID:0080059 | OMIM ID:607998 | MONDO:0012235 | UMLS ID:C1836474 | OMIM ID:609270 | autosomal recessive spinocerebellar ataxia 7 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7" +BMGC_DS10189,BMG_DS038089,UMLS ID:C1836482 | MONDO:0012233 | OMIM ID:609265 | Li-Fraumeni syndrome 2 | Li-Fraumeni Syndrome 2 | DOID:0111504 | obsolete Li-Fraumeni syndrome 2 | MeSH ID:C563755 +BMGC_DS10190,BMG_DS038090,"stuttering, familial persistent, 2 | MeSH ID:C563756 | UMLS ID:C1836484 | OMIM ID:609261 | MONDO:0012232 | Stuttering, Familial Persistent 2" +BMGC_DS10191,BMG_DS038091,"MeSH ID:C563757 | Charcot-Marie-Tooth Disease, Axonal, Type 2A2 | UMLS ID:C1836485" +BMGC_DS10192,BMG_DS038092,Myopia 10 | MONDO:0012230 | MeSH ID:C563758 | UMLS ID:C1836503 | myopia 10 | OMIM ID:609259 +BMGC_DS10193,BMG_DS038093,myopia 9 | UMLS ID:C1836504 | MONDO:0012229 | MeSH ID:C563759 | OMIM ID:609258 | Myopia 9 +BMGC_DS10194,BMG_DS038094,MeSH ID:C563760 | Myopia 8 | UMLS ID:C1836505 | myopia 8 | OMIM ID:609257 | MONDO:0012228 +BMGC_DS10195,BMG_DS038095,MeSH ID:C563761 | myopia 7 | UMLS ID:C1836506 | Myopia 7 | OMIM ID:609256 | MONDO:0012227 +BMGC_DS10196,BMG_DS038096,"OMIM ID:609255 | MONDO:0012226 | febrile seizures, familial, 5 | UMLS ID:C1836507" +BMGC_DS10197,BMG_DS038097,Generalised-onset tonic epileptic seizure | UMLS ID:C1836508 | Generalized onset tonic epileptic seizure (finding) | Generalized onset tonic epileptic seizure | Generalised onset tonic epileptic seizure | Generalized-onset tonic epileptic seizure | SNOMEDCT ID:1208969008 | Generalized tonic seizure | Generalised tonic seizure +BMGC_DS10198,BMG_DS038098,Senior-Loken syndrome 5 | MeSH ID:C563763 | OMIM ID:609254 | MONDO:0012225 | UMLS ID:C1836517 | Senior-Loken Syndrome 5 +BMGC_DS10199,BMG_DS038099,"MONDO:0012224 | OMIM ID:609253 | febrile seizures, familial, 6 | UMLS ID:C1836518" +BMGC_DS10200,BMG_DS038101,MeSH ID:C536631 | Alpha-N-acetylgalactosaminidase deficiency type 2 | NAGA (alpha-N-acetylgalactosaminidase) deficiency type 2 | MONDO:0012222 | OMIM ID:609242 | UMLS ID:C1836522 | alpha-N-acetylgalactosaminidase deficiency type 2 | Alpha-N-acetylgalactosaminidase deficiency type 2 (disorder) | SNOMEDCT ID:880065001 | Schindler disease type 2 +BMGC_DS10201,BMG_DS038102,Alpha-N-acetylgalactosaminidase deficiency type 1 | MONDO:0012221 | alpha-N-acetylgalactosaminidase deficiency type 1 | Schindler disease type 1 | Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder) | SNOMEDCT ID:879937000 | OMIM ID:609241 | UMLS ID:C1836544 | NAGA (alpha-N-acetylgalactosaminidase) deficiency type 1 +BMGC_DS10202,BMG_DS038103,"OMIM ID:606526 | OMIM ID:609227 | UMLS ID:C1836573 | MONDO:0012220 | GRISCELLI SYNDROME, TYPE 3 | DOID:0060834 | Griscelli syndrome type 3" +BMGC_DS10203,BMG_DS038104,"OMIM ID:609223 | Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type | MONDO:0012219 | spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type | UMLS ID:C1836584 | MeSH ID:C563772" +BMGC_DS10204,BMG_DS038105,MeSH ID:C537407 | MONDO:0012217 | UMLS ID:C1836602 | Bruck syndrome 2 | OMIM ID:609220 +BMGC_DS10205,BMG_DS038106,MeSH ID:C563774 | Foveal Hypoplasia and Anterior Segment Dysgenesis | UMLS ID:C1836603 +BMGC_DS10206,BMG_DS038107,MeSH ID:C563776 | UMLS ID:C1836621 | MONDO:0012214 | Glucocorticoid Deficiency 3 | OMIM ID:609197 | glucocorticoid deficiency 3 +BMGC_DS10207,BMG_DS038108,"Spastic paraplegia 26, autosomal recessive | OMIM ID:609195 | MONDO:0012213 | hereditary spastic paraplegia 26 | UMLS ID:C1836632 | MeSH ID:C536862" +BMGC_DS10208,BMG_DS038109,Loeys-Dietz Aortic Aneurysm Syndrome | UMLS ID:C1836635 | Loeys-Dietz Syndrome | Loeys-Dietz syndrome | DOID:0050466 | MeSH ID:D055947 +BMGC_DS10209,BMG_DS038110,"Dissection, Ascending Aorta | MeSH ID:D000094630 | UMLS ID:C1836653" +BMGC_DS10210,BMG_DS038111,"DOID:0080558 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | OMIM ID:604041 | congenital disorder of glycosylation If | OMIM ID:609180 | MONDO:0012211 | UMLS ID:C1836669 | MPDU1-congenital disorder of glycosylation" +BMGC_DS10211,BMG_DS038113,"MONDO:0011452 | UMLS ID:C1836672 | hypotrichosis 7 | MeSH ID:C536973 | Total Hypotrichosis, Mari type | OMIM ID:604379" +BMGC_DS10212,BMG_DS038114,MeSH ID:C563780 | MONDO:0012209 | OMIM ID:609166 | UMLS ID:C1836673 | branchiogenic deafness syndrome | Branchiogenic-Deafness Syndrome +BMGC_DS10213,BMG_DS038117,OMIM ID:609162 | UMLS ID:C1836683 | MONDO:0012206 | spondyloepiphyseal dysplasia with metatarsal shortening +BMGC_DS10214,BMG_DS038118,"UMLS ID:C1836694 | striatal degeneration, autosomal dominant | MeSH ID:C563783 | Striatal Degeneration, Autosomal Dominant | MONDO:0000211" +BMGC_DS10215,BMG_DS038120,"UMLS ID:C1836705 | MONDO:0012204 | Pseudohyperkalemia, Familial, 2, due to Red Cell Leak | MeSH ID:C563785 | familial pseudohyperkalemia | OMIM ID:609153" +BMGC_DS10216,BMG_DS038121,"Hyperthyroidism, Nonautoimmune | MONDO:0012203 | UMLS ID:C1836706 | OMIM ID:609152 | familial hyperthyroidism due to mutations in TSH receptor | MeSH ID:C563786" +BMGC_DS10217,BMG_DS038122,"UMLS ID:C1836721 | OMIM ID:609148 | MONDO:0012202 | malaria, mild, susceptibility to" +BMGC_DS10218,BMG_DS038124,"UMLS ID:C1836724 | Corneal Dystrophy, Posterior Polymorphous, 3 | posterior polymorphous corneal dystrophy 3 | OMIM ID:609141 | MeSH ID:C563788 | MONDO:0012200" +BMGC_DS10219,BMG_DS038125,"Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease | MONDO:0012198 | MeSH ID:C563789 | PCWH syndrome | UMLS ID:C1836727 | OMIM ID:609136" +BMGC_DS10220,BMG_DS038126,OMIM ID:609129 | UMLS ID:C1836743 | autosomal dominant auditory neuropathy 1 | MONDO:0012196 +BMGC_DS10221,BMG_DS038127,"distal arthrogryposis type 4 | MONDO:0012195 | UMLS ID:C1836756 | Arthrogryposis, Distal, Type 4 | arthrogryposis-severe scoliosis syndrome | MeSH ID:C563791 | DOID:0111610 | OMIM ID:609128" +BMGC_DS10222,BMG_DS038128,"DOID:0080966 | ANEURYSM, INTRACRANIAL BERRY, 3 | OMIM ID:609122 | intracranial berry aneurysm 3 | aneurysm, intracranial berry, 3 | UMLS ID:C1836757 | MONDO:0012194" +BMGC_DS10223,BMG_DS038130,"autosomal dominant limb-girdle muscular dystrophy type 1G | MeSH ID:C563794 | Limb-Girdle Muscular Dystrophy, Type 1G | OMIM ID:609115 | UMLS ID:C1836765 | MONDO:0012193" +BMGC_DS10224,BMG_DS038131,"UMLS ID:C1836777 | OMIM ID:609113 | TELOMERE LENGTH, MEAN LEUKOCYTE" +BMGC_DS10225,BMG_DS038132,UMLS ID:C1836780 | PANCREATIC AND CEREBELLAR AGENESIS | OMIM ID:609069 | OMIM ID:607194 | permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | MONDO:0012192 +BMGC_DS10226,BMG_DS038133,combined oxidative phosphorylation deficiency 1 | MeSH ID:C563797 | DOID:0111474 | OMIM ID:609060 | UMLS ID:C1836797 | MONDO:0012191 | Combined Oxidative Phosphorylation Deficiency 1 | hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +BMGC_DS10227,BMG_DS038134,"epidermolysis bullosa simplex 7, with nephropathy and deafness | MONDO:0012190 | OMIM ID:609057 | Nephropathy with Pretibial Epidermolysis Bullosa and Deafness | UMLS ID:C1836823 | MeSH ID:C563798" +BMGC_DS10228,BMG_DS038135,Amish Infantile Epilepsy Syndrome | UMLS ID:C1836824 | OMIM ID:609056 | GM3 synthase deficiency | MeSH ID:C563799 | MONDO:0018274 +BMGC_DS10229,BMG_DS038136,OMIM ID:MTHU001319 | SNOMEDCT ID:609225004 | Developmental regression (disorder) | UMLS ID:C1836830 | Developmental regression +BMGC_DS10230,BMG_DS038137,"UMLS ID:C1836841 | Ceroid lipofuscinosis, neuronal 9 | MeSH ID:C537953 | neuronal ceroid lipofuscinosis 9 | OMIM ID:609055 | MONDO:0012188" +BMGC_DS10231,BMG_DS038138,"OMIM ID:609054 | MONDO:0012187 | UMLS ID:C1836860 | DOID:0111097 | OMIM ID:605882 | FANCONI ANEMIA, COMPLEMENTATION GROUP J | Fanconi anemia complementation group J" +BMGC_DS10232,BMG_DS038139,"DOID:0111091 | OMIM ID:609053 | MONDO:0012186 | OMIM ID:611360 | FANCONI ANEMIA, COMPLEMENTATION GROUP I | UMLS ID:C1836861 | Fanconi anemia complementation group I" +BMGC_DS10233,BMG_DS038140,"DOID:0112301 | MONDO:0012185 | spondylometaphyseal dysplasia, A4 type | UMLS ID:C1836862 | MeSH ID:C563803 | Spondylometaphyseal Dysplasia, Type A4 | spondylometaphyseal dysplasia type A4 | OMIM ID:609052" +BMGC_DS10234,BMG_DS038141,OMIM ID:609049 | SNOMEDCT ID:723449004 | MONDO:0012184 | UMLS ID:C1836876 | Pierson syndrome | Pierson syndrome (disorder) | Microcoria and congenital nephrosis syndrome | DOID:0060852 | MeSH ID:C537185 +BMGC_DS10235,BMG_DS038142,"melanoma, cutaneous malignant, susceptibility to, 3 | UMLS ID:C1836892 | OMIM ID:609048 | MONDO:0012183" +BMGC_DS10236,BMG_DS038144,"Spastic Paraplegia 27, Autosomal Recessive | OMIM ID:609041 | MeSH ID:C563807 | MONDO:0012181 | hereditary spastic paraplegia 27 | UMLS ID:C1836899" +BMGC_DS10237,BMG_DS038145,"arrhythmogenic right ventricular dysplasia 9 | OMIM ID:609040 | MeSH ID:C563808 | MONDO:0012180 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 | UMLS ID:C1836906" +BMGC_DS10238,BMG_DS038146,MONDO:0012179 | narcolepsy 3 | NARCOLEPSY 3 | OMIM ID:609039 | UMLS ID:C1836907 +BMGC_DS10239,BMG_DS038147,"MONDO:0012178 | MeSH ID:C563810 | OMIM ID:609037 | UMLS ID:C1836915 | Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature | intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature" +BMGC_DS10240,BMG_DS038148,MONDO:0012177 | OMIM ID:609033 | OMIM ID:609144 | POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA | posterior column ataxia-retinitis pigmentosa syndrome | UMLS ID:C1836916 +BMGC_DS10241,BMG_DS038149,UMLS ID:C1836929 | Supernumerary derivative 22 chromosome syndrome | Supernumerary der(22) syndrome | Supernumerary der(22)t(11;22) syndrome | MeSH ID:C535733 | SNOMEDCT ID:702417004 | Supernumerary der(22)t(11;22) syndrome (disorder) | MONDO:0012176 | OMIM ID:609029 | Der(22) syndrome due to 3:1 meiotic disjunction events | Emanuel syndrome +BMGC_DS10242,BMG_DS038151,UMLS ID:C1836946 | MeSH ID:C563813 | peripheral cone dystrophy | OMIM ID:609021 | Peripheral Cone Dystrophy | MONDO:0012174 +BMGC_DS10243,BMG_DS038152,MeSH ID:C563814 | Marfanoid Habitus with Situs Inversus | UMLS ID:C1836994 | OMIM ID:609008 | MONDO:0012171 | marfanoid habitus with situs inversus +BMGC_DS10244,BMG_DS038153,"autosomal recessive nonsyndromic hearing loss 36 | UMLS ID:C1837007 | OMIM ID:609006 | MONDO:0012170 | DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT" +BMGC_DS10245,BMG_DS038154,MeSH ID:C563816 | Premature Ovarian Failure 3 | OMIM ID:608996 | MONDO:0012169 | UMLS ID:C1837008 | premature ovarian failure 3 +BMGC_DS10246,BMG_DS038155,"OMIM ID:608995 | UMLS ID:C1837009 | dyslexia, susceptibility to, 8 | MONDO:0012168" +BMGC_DS10247,BMG_DS038156,"OMIM ID:607554 | MeSH ID:C563817 | MONDO:0011857 | UMLS ID:C1837014 | atrial fibrillation, familial, 3 | Atrial Fibrillation, Familial, 3" +BMGC_DS10248,BMG_DS038157,OMIM ID:608984 | MONDO:0012166 | autosomal dominant sensory ataxia 1 | UMLS ID:C1837015 +BMGC_DS10249,BMG_DS038158,"OMIM ID:115700 | UMLS ID:C1837023 | CATARACT, CONGENITAL, CERULEAN TYPE, 3" +BMGC_DS10250,BMG_DS038159,MONDO:0012164 | UMLS ID:C1837026 | OMIM ID:608978 | Meacham syndrome +BMGC_DS10251,BMG_DS038160,"MeSH ID:C563822 | UMLS ID:C1837028 | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive | DOID:0090014 | Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive" +BMGC_DS10252,BMG_DS038161,"UMLS ID:C1837029 | Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 | MeSH ID:C536309 | MONDO:0012162 | OMIM ID:608970 | patterned macular dystrophy 2" +BMGC_DS10253,BMG_DS038162,"susceptibility to respiratory infections associated with CD8alpha chain mutation | MONDO:0012161 | MeSH ID:C563824 | OMIM ID:608957 | CD8 Deficiency, Familial | UMLS ID:C1837065" +BMGC_DS10254,BMG_DS038163,MONDO:0012160 | UMLS ID:C1837073 | spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | MeSH ID:C563825 | spondylometaphyseal dysplasia with cone-rod dystrophy | DOID:0112300 | OMIM ID:608940 | Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy +BMGC_DS10255,BMG_DS038166,congenital myasthenic syndrome 4C | OMIM ID:608931 | UMLS ID:C1837091 | MONDO:0012157 +BMGC_DS10256,BMG_DS038167,"Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency | MeSH ID:C563829 | UMLS ID:C1837092" +BMGC_DS10257,BMG_DS038168,"Myasthenic Syndrome, Congenital, Fast-Channel | MeSH ID:C563832 | UMLS ID:C1837122" +BMGC_DS10258,BMG_DS038169,MONDO:0012154 | UMLS ID:C1837148 | MeSH ID:C536105 | OMIM ID:608908 | Myopia 6 | myopia 6 +BMGC_DS10259,BMG_DS038170,UMLS ID:C1837149 | Alzheimer Disease 9 | MeSH ID:C563834 +BMGC_DS10260,BMG_DS038175,"OMIM ID:608902 | MeSH ID:C563835 | obsolete drug metabolism, poor, CYP2D6-related | MONDO:0012148 | Drug Metabolism, Poor, CYP2D6-Related | UMLS ID:C1837154" +BMGC_DS10261,BMG_DS038176,"UMLS ID:C1837173 | OMIM ID:608901 | coronary heart disease, susceptibility to, 5 | MONDO:0012147" +BMGC_DS10262,BMG_DS038177,"OMIM ID:608898 | familial hemophagocytic lymphohistiocytosis 3 | OMIM ID:608897 | DOID:0110923 | UMLS ID:C1837174 | MONDO:0012146 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3" +BMGC_DS10263,BMG_DS038178,"OMIM ID:604580 | OMIM ID:608895 | macular degeneration, age-related, 3 | MACULAR DEGENERATION, AGE-RELATED, 3 | MONDO:0012145 | UMLS ID:C1837187" +BMGC_DS10264,BMG_DS038179,UMLS ID:C1837203 | MONDO:0012144 | Waardenburg syndrome type 2D | OMIM ID:608890 +BMGC_DS10265,BMG_DS038180,"MONDO:0012143 | OMIM ID:608885 | UMLS ID:C1837206 | hereditary cryohydrocytosis with reduced stomatin | Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly | MeSH ID:C563840" +BMGC_DS10266,BMG_DS038181,MONDO:0012142 | OMIM ID:608874 | UMLS ID:C1837210 | OMIM ID:142983 | OROFACIAL CLEFT 5 | orofacial cleft 5 +BMGC_DS10267,BMG_DS038182,"UMLS ID:C1837213 | MONDO:0012141 | OMIM ID:608864 | orofacial cleft 6, susceptibility to" +BMGC_DS10268,BMG_DS038183,OMIM ID:119540 | UMLS ID:C1837218 | isolated cleft palate | MONDO:0007336 +BMGC_DS10269,BMG_DS038184,"UMLS ID:C1837229 | MeSH ID:C563844 | MONDO:0012138 | OMIM ID:608840 | Muscular Dystrophy, Congenital, Type 1D | muscular dystrophy-dystroglycanopathy type B6" +BMGC_DS10270,BMG_DS038185,MeSH ID:C563845 | MONDO:0012137 | OMIM ID:608837 | Carney complex - trismus - pseudocamptodactyly syndrome | Carney Complex Variant | UMLS ID:C1837245 +BMGC_DS10271,BMG_DS038189,"UMLS ID:C1837308 | MONDO:0012134 | DOID:0111326 | OMIM ID:608816 | MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3 | juvenile myoclonic epilepsy 3 | myoclonic epilepsy, juvenile, susceptibility to, 3" +BMGC_DS10272,BMG_DS038191,"UMLS ID:C1837315 | OMIM ID:608812 | MONDO:0012132 | colorectal cancer, susceptibility to, 1" +BMGC_DS10273,BMG_DS038193,Alpha-B Crystallinopathy | myofibrillar myopathy 2 | UMLS ID:C1837317 | MeSH ID:C563848 | OMIM ID:608810 | MONDO:0012130 +BMGC_DS10274,BMG_DS038196,"MONDO:0012128 | transposition of the great arteries, dextro-looped | UMLS ID:C1837341 | OMIM ID:608808" +BMGC_DS10275,BMG_DS038197,"UMLS ID:C1837342 | OMIM ID:608807 | MONDO:0012127 | autosomal recessive limb-girdle muscular dystrophy type 2J | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J" +BMGC_DS10276,BMG_DS038198,"MeSH ID:C563855 | UMLS ID:C1837355 | Leukodystrophy, Hypomyelinating, 2 | MONDO:0012125 | OMIM ID:608804 | hypomyelinating leukodystrophy 2" +BMGC_DS10277,BMG_DS038199,UMLS ID:C1837371 | sudden infant death-dysgenesis of the testes syndrome | MeSH ID:C563856 | OMIM ID:608800 | Sudden Infant Death with Dysgenesis of the Testes Syndrome | MONDO:0012124 +BMGC_DS10278,BMG_DS038200,"UMLS ID:C1837396 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | DOID:0080557 | OMIM ID:608799 | congenital disorder of glycosylation Ie | OMIM ID:603503 | MONDO:0012123 | congenital disorder of glycosylation type 1E" +BMGC_DS10279,BMG_DS038202,OMIM ID:608787 | DOID:0060924 | otosclerosis 5 | MONDO:0012121 | OTOSCLEROSIS 5 | UMLS ID:C1837422 +BMGC_DS10280,BMG_DS038203,pyruvate dehydrogenase phosphatase deficiency | Pyruvate dehydrogenase phosphatase deficiency (disorder) | SNOMEDCT ID:1003847003 | OMIM ID:608782 | UMLS ID:C1837429 | Pyruvate dehydrogenase phosphatase deficiency | MeSH ID:C536258 | MONDO:0012120 +BMGC_DS10281,BMG_DS038205,spinocerebellar ataxia type 8 | OMIM ID:603680 | OMIM ID:608768 | SPINOCEREBELLAR ATAXIA 8 | OMIM ID:613289 | MONDO:0012116 | DOID:0050959 | UMLS ID:C1837454 +BMGC_DS10282,BMG_DS038206,"OMIM ID:608765 | MONDO:0012115 | UMLS ID:C1837461 | scoliosis, isolated, susceptibility to, 3" +BMGC_DS10283,BMG_DS038208,"MONDO:0012113 | epilepsy, idiopathic generalized, susceptibility to, 3 | UMLS ID:C1837468 | OMIM ID:608762" +BMGC_DS10284,BMG_DS038209,"hypertrophic cardiomyopathy 8 | MONDO:0012111 | OMIM ID:160790 | DOID:0110314 | UMLS ID:C1837471 | OMIM ID:608751 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8" +BMGC_DS10285,BMG_DS038210,Insulin-Like Growth Factor I Deficiency | MONDO:0012110 | growth delay due to insulin-like growth factor type 1 deficiency | MeSH ID:C563867 | UMLS ID:C1837475 | OMIM ID:608747 +BMGC_DS10286,BMG_DS038212,"MONDO:0012108 | MeSH ID:C563869 | UMLS ID:C1837481 | OMIM ID:608728 | Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related | spondyloepimetaphyseal dysplasia, matrilin-3 type" +BMGC_DS10287,BMG_DS038214,"OMIM ID:608716 | microcephaly 5, primary, autosomal recessive | UMLS ID:C1837501 | MONDO:0012106 | Microcephaly, Primary Autosomal Recessive, 5 | MeSH ID:C563871" +BMGC_DS10288,BMG_DS038215,spinocerebellar ataxia type 25 | Spinocerebellar ataxia 25 | OMIM ID:608703 | MONDO:0012103 | DOID:0050974 | MeSH ID:C537202 | UMLS ID:C1837518 +BMGC_DS10289,BMG_DS038219,MONDO:0012099 | MeSH ID:C563876 | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | AICA-ribosiduria | UMLS ID:C1837530 | OMIM ID:608688 +BMGC_DS10290,BMG_DS038220,OMIM ID:608687 | spinocerebellar ataxia type 20 | MONDO:0012098 | DOID:0050971 | UMLS ID:C1837541 | SPINOCEREBELLAR ATAXIA 20 +BMGC_DS10291,BMG_DS038221,"spondylocostal dysostosis 2, autosomal recessive | MeSH ID:C535781 | OMIM ID:608681 | UMLS ID:C1837549 | MONDO:0012097;MONDO:0010180 | Spondylocostal Dysostosis 2, Autosomal Recessive | autosomal recessive spondylocostal dysostosis" +BMGC_DS10292,BMG_DS038222,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L | Charcot-Marie-Tooth disease axonal type 2L | UMLS ID:C1837552 | OMIM ID:608014 | MONDO:0012096 | OMIM ID:608673" +BMGC_DS10293,BMG_DS038223,MeSH ID:C563880 | MONDO:0012095 | UMLS ID:C1837564 | intellectual disability-brachydactyly-Pierre Robin syndrome | Robin Sequence with Distinctive Facial Appearance and Brachydactyly | OMIM ID:608670 +BMGC_DS10294,BMG_DS038226,"OMIM ID:608653 | DEAFNESS, AUTOSOMAL RECESSIVE 32 | UMLS ID:C1837608 | autosomal recessive nonsyndromic hearing loss 32 | MONDO:0012091 | OMIM ID:603504" +BMGC_DS10295,BMG_DS038227,"MONDO:0012090 | Deafness, Autosomal Dominant 47 | MeSH ID:C563885 | autosomal dominant nonsyndromic hearing loss 47 | UMLS ID:C1837609 | OMIM ID:608652" +BMGC_DS10296,BMG_DS038228,ichthyosis prematurity syndrome | MONDO:0012089 | OMIM ID:604194 | UMLS ID:C1837610 | OMIM ID:608649 | ICHTHYOSIS PREMATURITY SYNDROME +BMGC_DS10297,BMG_DS038229,"OMIM ID:608647 | UMLS ID:C1837615 | primary ciliary dyskinesia 5 | Ciliary Dyskinesia, Primary, 5 | MONDO:0012088 | MeSH ID:C563886" +BMGC_DS10298,BMG_DS038231,"MONDO:0012086 | Deafness, Autosomal Dominant 31 | MeSH ID:C563888 | autosomal dominant nonsyndromic hearing loss 31 | UMLS ID:C1837617 | OMIM ID:608645" +BMGC_DS10299,BMG_DS038232,"UMLS ID:C1837618 | OMIM ID:603335 | CILIARY DYSKINESIA, PRIMARY, 3 | OMIM ID:608644 | primary ciliary dyskinesia 3 | MONDO:0012085" +BMGC_DS10300,BMG_DS038233,"OMIM ID:608641 | autosomal dominant nonsyndromic hearing loss 28 | MeSH ID:C563890 | UMLS ID:C1837640 | MONDO:0012083 | Deafness, Autosomal Dominant 28" +BMGC_DS10301,BMG_DS038234,"UMLS ID:C1837646 | OMIM ID:608638 | ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1 | asperger syndrome, susceptibility to, 1 | MONDO:0012082" +BMGC_DS10302,BMG_DS038235,"Humero-spinal dysostosis | MeSH ID:C535789 | OMIM ID:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) | UMLS ID:C1837657 | spondyloepiphyseal dysplasia with congenital joint dislocations | Spondyloepiphyseal dysplasia, Omani type | SNOMEDCT ID:702400006 | Autosomal recessive Larsen syndrome | MONDO:0007738" +BMGC_DS10303,BMG_DS038236,UMLS ID:C1837658 | OMIM ID:MTHU074460 | Gross motor development delay (disorder) | SNOMEDCT ID:430099007 | Gross motor development delay +BMGC_DS10304,BMG_DS038237,"OMIM ID:608631 | UMLS ID:C1837697 | asperger syndrome, susceptibility to, 2 | MONDO:0012079 | ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2" +BMGC_DS10305,BMG_DS038238,OMIM ID:608629 | UMLS ID:C1837713 | JOUBERT SYNDROME 3 | Joubert syndrome 3 | MONDO:0012078 | OMIM ID:608894 +BMGC_DS10306,BMG_DS038239,OMIM ID:608627 | amyotrophic lateral sclerosis type 8 | Amyotrophic Lateral Sclerosis 8 | MONDO:0012077 | MeSH ID:C563895 | UMLS ID:C1837728 +BMGC_DS10307,BMG_DS038240,"midface hypoplasia, obesity, developmental delay, and neonatal hypotonia | UMLS ID:C1837730 | MeSH ID:C563896 | OMIM ID:608624 | MONDO:0012076 | Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia" +BMGC_DS10308,BMG_DS038241,"MeSH ID:C563897 | UMLS ID:C1837739 | Hypertension, Diastolic, Resistance to" +BMGC_DS10309,BMG_DS038242,UMLS ID:C1837750 | OMIM ID:608615 | MONDO:0012075 | oligodontia-cancer predisposition syndrome +BMGC_DS10310,BMG_DS038243,UMLS ID:C1837756 | DOID:0081129 | MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY | OMIM ID:608612 | mandibuloacral dysplasia type B lipodystrophy | MONDO:0012074 | mandibuloacral dysplasia with type B lipodystrophy | OMIM ID:606480 +BMGC_DS10311,BMG_DS038245,"Charcot-Marie-Tooth disease, axonal, Type 2G | UMLS ID:C1837805 | MeSH ID:C539595" +BMGC_DS10312,BMG_DS038248,"OMIM ID:608584 | MONDO:0012067 | UMLS ID:C1837811 | asthma-related traits, susceptibility to, 2" +BMGC_DS10313,BMG_DS038249,"UMLS ID:C1837812 | Atrial Fibrillation, Familial, 2 | OMIM ID:608988 | MeSH ID:C563903 | MONDO:0012167 | atrial fibrillation, familial, 2" +BMGC_DS10314,BMG_DS038251,UMLS ID:C1837822 | MeSH ID:C537411 | OMIM ID:608572 | Burn-McKeown syndrome | Burn-Mckeown syndrome | MONDO:0012064 | choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | DOID:0080695 +BMGC_DS10315,BMG_DS038253,Ulnar-Fibular Ray Defect and Brachydactyly | MeSH ID:C563905 | ulnar/fibula ray defect-brachydactyly syndrome | OMIM ID:608571 | UMLS ID:C1837830 | MONDO:0012063 +BMGC_DS10316,BMG_DS038254,"OMIM ID:601439 | dilated cardiomyopathy 1O | MONDO:0012062 | CARDIOMYOPATHY, DILATED, 1O | UMLS ID:C1837839 | OMIM ID:608569" +BMGC_DS10317,BMG_DS038255,OMIM ID:608567 | MONDO:0024562 | UMLS ID:C1837845 | sick sinus syndrome 1 +BMGC_DS10318,BMG_DS038256,"UMLS ID:C1837857 | MONDO:0012060 | OMIM ID:608565 | OMIM ID:602167 | autosomal recessive nonsyndromic hearing loss 35 | DEAFNESS, AUTOSOMAL RECESSIVE 35" +BMGC_DS10319,BMG_DS038259,"OMIM ID:608556 | MONDO:0012057 | legionnaire disease, susceptibility to | UMLS ID:C1837872" +BMGC_DS10320,BMG_DS038260,MeSH ID:C536603 | Leber congenital amaurosis 9 | MONDO:0012056 | UMLS ID:C1837873 | Leber Congenital Amaurosis 9 | OMIM ID:608553 +BMGC_DS10321,BMG_DS038261,MeSH ID:C563914 | MONDO:0012055 | Larsen-like osseous dysplasia-short stature syndrome | OMIM ID:608545 | UMLS ID:C1837884 | Larsen-Like Syndrome +BMGC_DS10322,BMG_DS038262,DOID:0070088 | OMIM ID:608543 | schizophrenia 12 | SCHIZOPHRENIA 12 | MONDO:0012054 | UMLS ID:C1837893 +BMGC_DS10323,BMG_DS038263,"MONDO:0012053 | Aneurysm, intracranial berry, 2 | aneurysm, intracranial berry, 2 | OMIM ID:608542 | UMLS ID:C1837894 | MeSH ID:C536360" +BMGC_DS10324,BMG_DS038264,"UMLS ID:C1837915 | MONDO:0009892 | OMIM ID:608537 | Chuvash polycythemia | OMIM ID:263400 | ERYTHROCYTOSIS, FAMILIAL, 2" +BMGC_DS10325,BMG_DS038268,"myopia 5, autosomal dominant | Myopia 5 | UMLS ID:C1837972 | MeSH ID:C563922 | MONDO:0012045 | OMIM ID:608474" +BMGC_DS10326,BMG_DS038269,"Corneal Dystrophy, Lattice Type IIIA | UMLS ID:C1837974 | MONDO:0012044 | OMIM ID:608471 | MeSH ID:C563923 | corneal dystrophy, lattice type 3A" +BMGC_DS10327,BMG_DS038270,Knobloch Syndrome Type II | UMLS ID:C1838009 | MeSH ID:C548030 +BMGC_DS10328,BMG_DS038273,"intellectual disability, autosomal recessive 3 | OMIM ID:608443 | MONDO:0012037 | UMLS ID:C1838023" +BMGC_DS10329,BMG_DS038274,"OMIM ID:600513 | MeSH ID:C563930 | UMLS ID:C1838049 | Epilepsy, Nocturnal Frontal Lobe, Type 1 | MONDO:0010899 | autosomal dominant nocturnal frontal lobe epilepsy 1" +BMGC_DS10330,BMG_DS038275,MeSH ID:C537297 | UMLS ID:C1838062 | MONDO:0010898 | autosomal dominant epilepsy with auditory features | Autosomal Dominant Lateral Temporal Lobe Epilepsy +BMGC_DS10331,BMG_DS038276,OMIM ID:600511 | UMLS ID:C1838069 | MONDO:0010897 | schizophrenia 3 +BMGC_DS10332,BMG_DS038277,UMLS ID:C1838099 | DOID:0050600 | MeSH ID:C535334 | ABCD syndrome | OMIM ID:600501 | MONDO:0010895 +BMGC_DS10333,BMG_DS038278,UMLS ID:C1838100 | MONDO:0010894 | maturity-onset diabetes of the young type 3 | OMIM ID:600496 +BMGC_DS10334,BMG_DS038279,"MONDO:0010893 | UMLS ID:C1838102 | OMIM ID:600467 | malignant hyperthermia, susceptibility to, 4" +BMGC_DS10335,BMG_DS038280,"MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA | myopathy, lactic acidosis, and sideroblastic anemia 1 | OMIM ID:600462 | UMLS ID:C1838103 | MONDO:0000863 | DOID:0111185 | myopathy, lactic acidosis, and sideroblastic anemia" +BMGC_DS10336,BMG_DS038283,"DOID:0070419 | MeSH ID:C563936 | MONDO:0010890 | UMLS ID:C1838121 | Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly | OMIM ID:600460 | acrocardiofacial syndrome" +BMGC_DS10337,BMG_DS038284,OMIM ID:600459 | Arterial Dissection with Lentiginosis | arterial dissection-lentiginosis syndrome | MONDO:0010889 | MeSH ID:C563937 | UMLS ID:C1838122 +BMGC_DS10338,BMG_DS038285,"isolated anterior cervical hypertrichosis | OMIM ID:600457 | UMLS ID:C1838123 | MeSH ID:C538390 | Hypertrichosis, anterior cervical | MONDO:0010887" +BMGC_DS10339,BMG_DS038286,Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas | MONDO:0010885 | OMIM ID:600419 | MeSH ID:C563940 | angiokeratoma corporis diffusum with arteriovenous fistulas | UMLS ID:C1838141 +BMGC_DS10340,BMG_DS038288,"Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV | OMIM ID:600384 | UMLS ID:C1838161 | aphalangy-syndactyly-microcephaly syndrome | MeSH ID:C563942 | MONDO:0010882" +BMGC_DS10341,BMG_DS038289,MONDO:0010881 | MeSH ID:C537348 | Mesomelia-synostoses syndrome | mesomelia-synostoses syndrome | OMIM ID:600383 | UMLS ID:C1838162 +BMGC_DS10342,BMG_DS038290,"OMIM ID:600376 | UMLS ID:C1838163 | telangiectasia, hereditary hemorrhagic, type 2 | MONDO:0010880" +BMGC_DS10343,BMG_DS038291,CODAS (cerebro-oculo-dento-auriculo-skeletal) syndrome | Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) | CODAS syndrome | DOID:0111274 | OMIM ID:600373 | SNOMEDCT ID:717772000 | MeSH ID:C536434 | MONDO:0010879 | Cerebro-oculo-dento-auriculo-skeletal syndrome | UMLS ID:C1838180 +BMGC_DS10344,BMG_DS038292,cone-rod dystrophy 14 | DOID:0080314 | UMLS ID:C1838190 +BMGC_DS10345,BMG_DS038293,"hereditary spastic paraplegia 6 | MONDO:0010878 | Spastic paraplegia 6, autosomal dominant | UMLS ID:C1838192 | MeSH ID:C536866 | OMIM ID:600363" +BMGC_DS10346,BMG_DS038294,UMLS ID:C1838206 | MONDO:0010876 | MeSH ID:C536840 | OMIM ID:600360 | Aplasia cutis congenita of limbs recessive | recessive aplasia cutis congenita of limbs +BMGC_DS10347,BMG_DS038295,"pachydermodactyly, familial | MONDO:0010875 | OMIM ID:600356 | UMLS ID:C1838218 | Pachydermodactyly, Familial | MeSH ID:C563947" +BMGC_DS10348,BMG_DS038296,"OMIM ID:600354 | DOID:0050529 | UMLS ID:C1838230 | OMIM ID:271150 | adult spinal muscular atrophy | MONDO:0010056 | SPINAL MUSCULAR ATROPHY, TYPE IV | spinal muscular atrophy, type IV" +BMGC_DS10349,BMG_DS038298,UMLS ID:C1838239 | Band Heterotopia of Brain | MeSH ID:C563950 +BMGC_DS10350,BMG_DS038300,MeSH ID:C563952 | MONDO:0010871 | Succinic Acidemia | succinic acidemia | OMIM ID:600335 | UMLS ID:C1838243 +BMGC_DS10351,BMG_DS038301,"OMIM ID:600334 | MONDO:0010870 | UMLS ID:C1838244 | tibial muscular dystrophy | TIBIAL MUSCULAR DYSTROPHY, TARDIVE | DOID:0111078 | OMIM ID:188840" +BMGC_DS10352,BMG_DS038303,OMIM ID:600332 | UMLS ID:C1838254 | rippling muscle disease 1 | MONDO:0010868 | RIPPLING MUSCLE DISEASE 1 +BMGC_DS10353,BMG_DS038304,"PARC (poikiloderma, alopecia, retrognathism, cleft palate) syndrome | PARC syndrome | OMIM ID:600331 | SNOMEDCT ID:771186004 | UMLS ID:C1838256 | Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | MONDO:0010867 | Poikiloderma, alopecia, retrognathism, cleft palate syndrome | MeSH ID:C537174" +BMGC_DS10354,BMG_DS038306,MONDO:0010866 | UMLS ID:C1838258 | MeSH ID:C536055 | Osteopetrosis and infantile neuroaxonal dystrophy | OMIM ID:600329 | infantile osteopetrosis with neuroaxonal dysplasia +BMGC_DS10355,BMG_DS038308,"UMLS ID:C1838260 | type 1 diabetes mellitus 5 | DIABETES MELLITUS, INSULIN-DEPENDENT, 5 | MONDO:0010863 | OMIM ID:600320" +BMGC_DS10356,BMG_DS038311,"MONDO:0010860 | UMLS ID:C1838263 | OMIM ID:600316 | Deafness, Autosomal Recessive 3 | autosomal recessive nonsyndromic hearing loss 3 | MeSH ID:C563961" +BMGC_DS10357,BMG_DS038312,"Epiphyseal dysplasia, multiple, 1 | MONDO:0007561 | MeSH ID:C535501 | multiple epiphyseal dysplasia type 1 | UMLS ID:C1838280 | OMIM ID:132400 | DOID:0070303 | multiple epiphyseal dysplasia 1" +BMGC_DS10358,BMG_DS038317,"Polycystic kidneys, severe infantile with tuberous sclerosis | OMIM ID:600273 | UMLS ID:C1838327 | MeSH ID:C536328 | MONDO:0010856 | autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis" +BMGC_DS10359,BMG_DS038318,short tarsus-absence of lower eyelashes syndrome | OMIM ID:600269 | Short tarsus with absence of lower eyelashes syndrome (disorder) | SNOMEDCT ID:721075001 | Lopes Gorlin syndrome | UMLS ID:C1838328 | MONDO:0010855 | Short tarsus with absence of lower eyelashes syndrome | MeSH ID:C537036 +BMGC_DS10360,BMG_DS038319,UMLS ID:C1838329 | DOID:0111705 | APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS | MONDO:0010854 | Toriello-Lacassie-Droste syndrome | OMIM ID:600268 | oculoectodermal syndrome +BMGC_DS10361,BMG_DS038320,"MONDO:0010853 | HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO | OMIM ID:107470 | OMIM ID:600263 | Helicobacter pylori infection, susceptibility to | UMLS ID:C1838332" +BMGC_DS10362,BMG_DS038321,"hereditary nonpolyposis colorectal cancer type 4 | UMLS ID:C1838333 | OMIM ID:614337 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 | MONDO:0013699 | DOID:0070275 | Lynch syndrome 4" +BMGC_DS10363,BMG_DS038322,UMLS ID:C1838346 | OMIM ID:600257 | Bor-Duane hydrocephalus contiguous gene syndrome | MeSH ID:C536574 | chromosome 8Q12.1-q21.2 deletion syndrome | MONDO:0010852 +BMGC_DS10364,BMG_DS038323,"OMIM ID:123155 | MONDO:0007401 | Hydrocephalus, Autosomal Dominant | MeSH ID:C563973 | craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome | UMLS ID:C1838347" +BMGC_DS10365,BMG_DS038324,SNOMEDCT ID:763830009 | MONDO:0015824 | Richieri Costa Gorlin syndrome | Oculomaxillofacial dysostosis (disorder) | Oculomaxillofacial dysostosis | oculomaxillofacial dysostosis | UMLS ID:C1838348 | MeSH ID:C537736 +BMGC_DS10366,BMG_DS038325,"MONDO:0010849 | OMIM ID:600231 | Diffuse palmoplantar keratoderma, Bothnian type | MeSH ID:C536173 | Bothnian type palmoplantar keratoderma | UMLS ID:C1838359 | DOID:0111707 | palmoplantar keratoderma, Bothnian type" +BMGC_DS10367,BMG_DS038326,"Exostoses, Multiple, Type III | exostoses, multiple, type III | MeSH ID:C563975 | MONDO:0010846 | OMIM ID:600209 | UMLS ID:C1838420" +BMGC_DS10368,BMG_DS038327,"epiphyseal dysplasia, multiple, 2 | OMIM ID:600204 | MONDO:0010844 | UMLS ID:C1838429 | MeSH ID:C535502 | Epiphyseal dysplasia, multiple, 2" +BMGC_DS10369,BMG_DS038328,"MONDO:0010843 | UMLS ID:C1838436 | dyslexia, susceptibility to, 2 | OMIM ID:600202" +BMGC_DS10370,BMG_DS038329,multiple cutaneous and mucosal venous malformations | UMLS ID:C1838437 | OMIM ID:600195 | DOID:0050792 | MONDO:0010842 +BMGC_DS10371,BMG_DS038330,OMIM ID:600194 | OMIM ID:146800 | MONDO:0017339 | exfoliative ichthyosis | ICHTHYOSIS EXFOLIATIVA | UMLS ID:C1838440 +BMGC_DS10372,BMG_DS038331,MeSH ID:C536465 | UMLS ID:C1838447 | MONDO:0010841 | OMIM ID:600193 | Waardenburg syndrome type 2B | DOID:0110947 +BMGC_DS10373,BMG_DS038332,"DOID:0111089 | FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | UMLS ID:C1838457 | OMIM ID:605724 | MONDO:0011584 | OMIM ID:600185 | Fanconi anemia complementation group D1" +BMGC_DS10374,BMG_DS038333,"pachygyria-intellectual disability-epilepsy syndrome | UMLS ID:C1838491 | MONDO:0010840 | SNOMEDCT ID:763861000 | MeSH ID:C538091 | Kuzniecky syndrome | Pachygyria, intellectual disability, epilepsy syndrome | OMIM ID:600176 | Pachygyria, intellectual disability, epilepsy syndrome (disorder)" +BMGC_DS10375,BMG_DS038334,"MeSH ID:C563981 | neuronopathy, distal hereditary motor, autosomal dominant 8 | Spinal Muscular Atrophy, Distal, Congenital Nonprogressive | UMLS ID:C1838492 | OMIM ID:600175 | MONDO:0010839" +BMGC_DS10376,BMG_DS038335,"Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia | hyperparathyroidism, primary, caused by water clear cell hyperplasia | MeSH ID:C563982 | OMIM ID:600166 | UMLS ID:C1838501 | MONDO:0044350" +BMGC_DS10377,BMG_DS038336,NANOPHTHALMOS 1 | OMIM ID:600165 | MONDO:0010836 | nanophthalmos 1 | UMLS ID:C1838502 +BMGC_DS10378,BMG_DS038337,"OMIM ID:108770 | DOID:0080662 | CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE | UMLS ID:C1838539 | atrial standstill 1" +BMGC_DS10379,BMG_DS038338,UMLS ID:C1838547 | OMIM ID:600160 | melanoma-pancreatic cancer syndrome | OMIM ID:606719 | MONDO:0011713 | MELANOMA-PANCREATIC CANCER SYNDROME +BMGC_DS10380,BMG_DS038340,"Hirschsprung disease, susceptibility to, 2 | OMIM ID:600155 | UMLS ID:C1838564 | MONDO:0010833" +BMGC_DS10381,BMG_DS038341,UMLS ID:C1838568 | MeSH ID:C537221 | Sacral defect and anterior sacral meningocele +BMGC_DS10382,BMG_DS038342,"CEROID LIPOFUSCINOSIS, NEURONAL, 8 | OMIM ID:607837 | OMIM ID:600143 | UMLS ID:C1838570 | MONDO:0010830 | neuronal ceroid lipofuscinosis 8" +BMGC_DS10383,BMG_DS038343,"Ceroid Lipofuscinosis, Neuronal, 7 | OMIM ID:610951 | neuronal ceroid lipofuscinosis 7 | MONDO:0012588 | MeSH ID:C563989 | UMLS ID:C1838571" +BMGC_DS10384,BMG_DS038344,MeSH ID:C563990 | CARASIL syndrome | OMIM ID:600142 | MONDO:0010829 | Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | UMLS ID:C1838577 +BMGC_DS10385,BMG_DS038345,UMLS ID:C1838601 | retinitis pigmentosa 11 | MeSH ID:C563991 | MONDO:0010828 | OMIM ID:600138 | Retinitis Pigmentosa 11 | DOID:0110408 +BMGC_DS10386,BMG_DS038346,retinitis pigmentosa 14 | UMLS ID:C1838603 | MeSH ID:C563992 | OMIM ID:600132 | Retinitis Pigmentosa 14 | DOID:0110381 | MONDO:0010827 +BMGC_DS10387,BMG_DS038347,"UMLS ID:C1838604 | epilepsy, childhood absence, susceptibility to, 1 | OMIM ID:600131 | MONDO:0020759" +BMGC_DS10388,BMG_DS038351,"DOID:0110853 | UMLS ID:C1838612 | OMIM ID:600121 | rhizomelic chondrodysplasia punctata type 3 | MeSH ID:C537608 | MONDO:0010823 | Rhizomelic chondrodysplasia punctata, type 3" +BMGC_DS10389,BMG_DS038352,UMLS ID:C1838625 | DOID:0060237 | Warburg micro syndrome 1 | OMIM ID:602536 | OMIM ID:600118 | MONDO:0010822 | Warburg micro syndrome | WARBURG MICRO SYNDROME 1 +BMGC_DS10390,BMG_DS038353,"UMLS ID:C1838630 | OMIM ID:600117 | MONDO:0010821 | familial developmental dysphasia | MeSH ID:C563997 | Dysphasia, Familial Developmental" +BMGC_DS10391,BMG_DS038354,UMLS ID:C1838644 | MeSH ID:C535805 | Stargardt disease 3 | MONDO:0010819 | OMIM ID:600110 +BMGC_DS10392,BMG_DS038355,MONDO:0010818 | Retinitis Pigmentosa 12 | DOID:0110358 | MeSH ID:C563999 | OMIM ID:600105 | retinitis pigmentosa 12 | UMLS ID:C1838647 +BMGC_DS10393,BMG_DS038356,UMLS ID:C1838652 | split hand-foot malformation 3 | OMIM ID:246560 | SPLIT-HAND/FOOT MALFORMATION 3 | MONDO:0009525 +BMGC_DS10394,BMG_DS038357,DOID:0112289 | OMIM ID:600093 | Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies | MeSH ID:C564003 | UMLS ID:C1838653 | MONDO:0010815 | spondyloepiphyseal dysplasia tarda with characteristic facies +BMGC_DS10395,BMG_DS038358,MeSH ID:C536123 | OMIM ID:600092 | DOID:0060644 | Nivelon Nivelon Mabille syndrome | UMLS ID:C1838654 | chondrodysplasia-pseudohermaphroditism syndrome | Chondrodysplasia pseudohermaphroditism syndrome | Chondrodysplasia with disorder of sex development syndrome (disorder) | Chondrodysplasia with disorder of sex development syndrome | SNOMEDCT ID:720851007 | MONDO:0010814 +BMGC_DS10396,BMG_DS038359,MeSH ID:C538111 | OMIM ID:600089 | pancreatic beta cell agenesis with neonatal diabetes mellitus | Pancreatic beta cell agenesis with neonatal diabetes mellitus | UMLS ID:C1838655 | MONDO:0010813 +BMGC_DS10397,BMG_DS038360,"MONDO:0010812 | UMLS ID:C1838656 | MeSH ID:C564004 | macrocytosis, familial | OMIM ID:600084 | Macrocytosis, Familial" +BMGC_DS10398,BMG_DS038361,"vitamin D hydroxylation-deficient rickets, type 1B | MONDO:0010810 | OMIM ID:600081 | Vitamin D Hydroxylation-Deficient Rickets, Type 1B | UMLS ID:C1838657 | MeSH ID:C564005" +BMGC_DS10399,BMG_DS038362,OMIM ID:600080 | familial chronic myelocytic leukemia-like syndrome | UMLS ID:C1838670 | MONDO:0010809 +BMGC_DS10400,BMG_DS038363,"DEAFNESS, AUTOSOMAL RECESSIVE 2 | UMLS ID:C1838701 | MONDO:0010807 | OMIM ID:276903 | OMIM ID:600060 | autosomal recessive nonsyndromic hearing loss 2" +BMGC_DS10401,BMG_DS038364,OMIM ID:600059 | Retinitis Pigmentosa 13 | UMLS ID:C1838702 | DOID:0110403 | MONDO:0010806 | retinitis pigmentosa 13 | MeSH ID:C564008 +BMGC_DS10402,BMG_DS038365,Bladder Exstrophy and Epispadias Complex | bladder exstrophy-epispadias-cloacal extrophy complex | OMIM ID:600057 | MeSH ID:C564009 | UMLS ID:C1838703 | MONDO:0700039 +BMGC_DS10403,BMG_DS038366,UMLS ID:C1838779 | DOID:0111732 | Eiken syndrome | MONDO:0010803 | OMIM ID:600002 | MeSH ID:C564010 | Eiken Skeletal Dysplasia +BMGC_DS10404,BMG_DS038368,"OMIM ID:598500 | MONDO:0010800 | Wolfram syndrome, mitochondrial form | DOID:0080583 | Wolfram Syndrome, Mitochondrial Form | MeSH ID:C564012 | UMLS ID:C1838782" +BMGC_DS10405,BMG_DS038369,"OMIM ID:516030 | UMLS ID:C1838854 | MONDO:0010799 | DOID:0111734 | aminoglycoside-induced deafness | OMIM ID:580000 | deafness, aminoglycoside-induced | OMIM ID:561000 | OMIM ID:590080 | DEAFNESS, AMINOGLYCOSIDE-INDUCED" +BMGC_DS10406,BMG_DS038370,"OMIM ID:556500 | MONDO:0010796 | MeSH ID:C564015 | UMLS ID:C1838867 | Parkinson Disease, Mitochondrial | Parkinson disease, mitochondrial" +BMGC_DS10407,BMG_DS038372,"MONDO:0010792 | MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE | lethal infantile mitochondrial myopathy | OMIM ID:551000 | UMLS ID:C1838876" +BMGC_DS10408,BMG_DS038373,"MONDO:0010791 | UMLS ID:C1838877 | OMIM ID:550500 | myoglobinuria, recurrent" +BMGC_DS10409,BMG_DS038376,"DOID:0111750 | OMIM ID:516060 | ATAXIA AND POLYNEUROPATHY, ADULT-ONSET | UMLS ID:C1838916 | ataxia and polyneuropathy, adult-onset | MONDO:0010781 | adult-onset ataxia and polyneuropathy | OMIM ID:500010" +BMGC_DS10410,BMG_DS038377,OMIM ID:516005 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM ID:516006 | UMLS ID:C1838951 | OMIM ID:516001 +BMGC_DS10411,BMG_DS038378,DOID:0060536;DOID:0060536;DOID:0112074 | MITOCHONDRIAL COMPLEX I DEFICIENCY | OMIM ID:516003 | MONDO:0100133 | nuclear type mitochondrial complex I deficiency 1 | mitochondrial complex I deficiency | OMIM ID:252010 | UMLS ID:C1838979 | OMIM ID:516001 +BMGC_DS10412,BMG_DS038379,chloramphenicol toxicity | OMIM ID:515000 | UMLS ID:C1838989 | MONDO:0010784 +BMGC_DS10413,BMG_DS038380,"MONDO:0100295 | Alzheimer disease, susceptibility to, mitochondrial | UMLS ID:C1838990 | OMIM ID:502500" +BMGC_DS10414,BMG_DS038384,"striatonigral degeneration, infantile, mitochondrial | MONDO:0010774 | MeSH ID:C564025 | OMIM ID:500003 | UMLS ID:C1839022 | Striatonigral Degeneration, Infantile, Mitochondrial" +BMGC_DS10415,BMG_DS038385,UMLS ID:C1839028 | OMIM ID:500002 | MONDO:0010773 | mitochondrial myopathy with diabetes | Mitochondrial Myopathy with Diabetes | MeSH ID:C564026 +BMGC_DS10416,BMG_DS038386,Leber hereditary optic neuropathy and dystonia | Leber optic atrophy and dystonia | OMIM ID:516003 | UMLS ID:C1839040 | OMIM ID:516002 | OMIM ID:516000 | OMIM ID:516006 | OMIM ID:500001 | DOID:0111755 | MONDO:0010772 | LEBER OPTIC ATROPHY AND DYSTONIA +BMGC_DS10417,BMG_DS038388,"MONDO:0010769 | MeSH ID:C564029 | Hairy Ears, Y-Linked | hairy ears, Y-linked | UMLS ID:C1839070 | OMIM ID:425500" +BMGC_DS10418,BMG_DS038389,"MONDO:0010767 | DOID:0070187 | UMLS ID:C1839071 | MeSH ID:C564030 | Spermatogenic Failure, Nonobstructive, Y-Linked | Y-linked spermatogenic failure 2 | OMIM ID:415000 | spermatogenic failure, Y-linked, 2" +BMGC_DS10419,BMG_DS038394,"MONDO:0010761 | retinitis pigmentosa Y-linked | UMLS ID:C1839079 | MeSH ID:C564035 | Retinitis Pigmentosa, Y-Linked | OMIM ID:400004" +BMGC_DS10420,BMG_DS038396,"MONDO:0010450 | UMLS ID:C1839082 | OMIM ID:300848 | intellectual disability, X-linked 89" +BMGC_DS10421,BMG_DS038399,"Von Willebrand disease, X-linked form | OMIM ID:314560 | MeSH ID:C564041 | Von Willebrand Disease, X-Linked Form | MONDO:0010756 | UMLS ID:C1839113" +BMGC_DS10422,BMG_DS038400,"UMLS ID:C1839114 | Vesicoureteral Reflux, X-Linked | OMIM ID:314550 | MeSH ID:C564042 | MONDO:0010755 | vesicoureteral reflux, X-linked" +BMGC_DS10423,BMG_DS038401,unique green phenomenon | UMLS ID:C1839116 | OMIM ID:314380 | MONDO:0010751 | UNIQUE GREEN PHENOMENON +BMGC_DS10424,BMG_DS038403,"Say Meyer syndrome | SNOMEDCT ID:733066002 | UMLS ID:C1839125 | MeSH ID:C536620 | trigonocephaly-short stature-developmental delay syndrome | Trigonocephaly, short stature, developmental delay syndrome (disorder) | MONDO:0010749 | OMIM ID:314320 | Trigonocephaly, short stature, developmental delay syndrome" +BMGC_DS10425,BMG_DS038404,torticollis-keloids-cryptorchidism-renal dysplasia syndrome | Torticollis keloids cryptorchidism renal dysplasia | MONDO:0010748 | MeSH ID:C536970 | OMIM ID:314300 | UMLS ID:C1839129 +BMGC_DS10426,BMG_DS038405,"UMLS ID:C1839130 | MONDO:0010747 | MeSH ID:C564048 | Dystonia 3, Torsion, X-Linked | X-linked dystonia-parkinsonism | OMIM ID:314250" +BMGC_DS10427,BMG_DS038406,Thyroxine-Binding Globulin Deficiency | MeSH ID:C564049 | UMLS ID:C1839141 +BMGC_DS10428,BMG_DS038407,"OMIM ID:314050 | UMLS ID:C1839161 | beta-thalassemia-X-linked thrombocytopenia syndrome | Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis | X-linked thrombocytopenia with beta-thalassemia | MeSH ID:C564050 | DOID:0111767 | MONDO:0010745" +BMGC_DS10429,BMG_DS038408,OMIM ID:314000 | MeSH ID:C564051 | UMLS ID:C1839162 | Thrombocytopenia with Elevated Serum Iga and Renal Disease | MONDO:0010744 | thrombocytopenia with elevated serum IgA and renal disease +BMGC_DS10430,BMG_DS038409,OMIM ID:313900 | thrombocytopenia 1 | MeSH ID:C564052 | Thrombocytopenia 1 | UMLS ID:C1839163 | MONDO:0010743 +BMGC_DS10431,BMG_DS038412,"Taurodontism, microdontia, and dens invaginatus | UMLS ID:C1839235 | MeSH ID:C536947 | MONDO:0010740 | taurodontism, microdontia, and dens invaginatus | OMIM ID:313490" +BMGC_DS10432,BMG_DS038414,split hand-foot malformation 2 | UMLS ID:C1839258 | OMIM ID:313350 | MONDO:0010736 | SPLIT-HAND/FOOT MALFORMATION 2 +BMGC_DS10433,BMG_DS038415,"MONDO:0010735 | Kennedy's disease | MeSH ID:D055534 | Kennedy disease | UMLS ID:C1839259 | OMIM ID:313200 | Bulbo-Spinal Atrophy, X-Linked | DOID:0060161" +BMGC_DS10434,BMG_DS038416,"OMIM ID:313000 | MONDO:0010734 | spatial visualization, aptitude for | UMLS ID:C1839262" +BMGC_DS10435,BMG_DS038417,"OMIM ID:312920 | hereditary spastic paraplegia 2 | UMLS ID:C1839264 | Spastic paraplegia 2, X-linked | MeSH ID:C536857 | MONDO:0010733" +BMGC_DS10436,BMG_DS038419,"UMLS ID:C1839320 | OMIM ID:312840 | MeSH ID:C536630 | Schimke X-linked mental retardation syndrome | MONDO:0010729 | X-linked intellectual disability, Schimke type" +BMGC_DS10437,BMG_DS038420,"Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | SCARF syndrome | UMLS ID:C1839321 | MONDO:0010728 | SNOMEDCT ID:734173003 | SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome | OMIM ID:312830 | Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder) | MeSH ID:C536625" +BMGC_DS10438,BMG_DS038422,OMIM ID:312612 | Retinitis Pigmentosa 6 | retinitis pigmentosa 6 | MeSH ID:C564065 | MONDO:0000910 | UMLS ID:C1839368 | DOID:0110413 +BMGC_DS10439,BMG_DS038423,MeSH ID:C564066 | OMIM ID:312210 | radiation sensitivity of natural killer activity | Radiation Sensitivity of Natural Killer Activity | MONDO:0010719 | UMLS ID:C1839408 +BMGC_DS10440,BMG_DS038424,UMLS ID:C1839410 | OMIM ID:312190 | MONDO:0010718 | MeSH ID:C535281 | Radius absent anogenital anomalies | absent radius-anogenital anomalies syndrome +BMGC_DS10441,BMG_DS038425,MeSH ID:C564071 | Pyruvate Dehydrogenase E1 Alpha Deficiency | UMLS ID:C1839413 | MONDO:0010717 | OMIM ID:312170 | pyruvate dehydrogenase E1-alpha deficiency +BMGC_DS10442,BMG_DS038426,UMLS ID:C1839437 | ICD10 ID:E87.22 | Chronic lactic acidosis +BMGC_DS10443,BMG_DS038427,"OMIM ID:312150 | MONDO:0010716 | Multiple Pterygium Syndrome, X-Linked | MeSH ID:C564072 | X-linked lethal multiple pterygium syndrome | UMLS ID:C1839440" +BMGC_DS10444,BMG_DS038428,"PROPERDIN DEFICIENCY, X-LINKED | UMLS ID:C1839454 | OMIM ID:312060 | properdin deficiency, X-linked | MONDO:0010713 | X-linked properdin deficiency | DOID:0111768" +BMGC_DS10445,BMG_DS038429,"UMLS ID:C1839455 | Properdin Deficiency, Type II | MeSH ID:C564075" +BMGC_DS10446,BMG_DS038430,"UMLS ID:C1839456 | Properdin Deficiency, Type III | MeSH ID:C564076" +BMGC_DS10447,BMG_DS038431,"Pierre Robin syndrome, congenital heart defect, talipes syndrome | MONDO:0010711 | MeSH ID:C536942 | Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) | OMIM ID:311900 | SNOMEDCT ID:725911008 | UMLS ID:C1839463 | DOID:0111780 | TARP syndrome | TARP (talipes equinovarus, atrial septal defect, Robin sequence, persistence of left superior vena cava) syndrome | Pierre Robin sequence, congenital heart defect, talipes syndrome" +BMGC_DS10448,BMG_DS038434,obsolete Jensen syndrome | UMLS ID:C1839564 | MeSH ID:C537568 | MONDO:0000501 | Jensen syndrome +BMGC_DS10449,BMG_DS038435,Optic Atrophy Spastic Paraplegia Syndrome | MeSH ID:C564084 | MONDO:0010700 | OMIM ID:311100 | UMLS ID:C1839565 | optic atrophy--spastic paraplegia syndrome +BMGC_DS10450,BMG_DS038436,"OMIM ID:311850 | Charcot-Marie-Tooth disease X-linked recessive 5 | MONDO:0010699 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 | OMIM ID:311070 | UMLS ID:C1839566" +BMGC_DS10451,BMG_DS038437,UMLS ID:C1839576 | Early-onset X-linked optic atrophy | Non-Leber type optic atrophy with early-onset | Early-onset X-linked optic atrophy (disorder) | MONDO:0010698 | Optic atrophy type 2 | optic atrophy 2 | SNOMEDCT ID:721200000 | OMIM ID:311050 +BMGC_DS10452,BMG_DS038438,"ophthalmoplegia, external, and myopia | MeSH ID:C564087 | MONDO:0010697 | OMIM ID:311000 | UMLS ID:C1839577 | Ophthalmoplegia, External, and Myopia" +BMGC_DS10453,BMG_DS038440,"MeSH ID:C564088 | nystagmus, myoclonic | MONDO:0010694 | OMIM ID:310800 | Nystagmus, Myoclonic | UMLS ID:C1839579" +BMGC_DS10454,BMG_DS038441,"nystagmus 1, congenital, X-linked | MeSH ID:C537853 | OMIM ID:310700 | MONDO:0010693 | Nystagmus 1, congenital, X- linked | UMLS ID:C1839580" +BMGC_DS10455,BMG_DS038443,"UMLS ID:C1839602 | OMIM ID:310470 | Neuropathy, Hereditary Sensory, X-Linked | MONDO:0010688 | hereditary sensory neuropathy X-linked | MeSH ID:C564090" +BMGC_DS10456,BMG_DS038445,"OMIM ID:310460 | MYOPIA 1, X-LINKED | MONDO:0010685 | myopia 1, X-linked | UMLS ID:C1839612" +BMGC_DS10457,BMG_DS038446,SNOMEDCT ID:719815005 | MONDO:0010684 | UMLS ID:C1839615 | X-linked myopathy with excessive autophagy | OMIM ID:310440 | X-linked myopathy with excessive autophagy (disorder) | Vacuolar myopathy +BMGC_DS10458,BMG_DS038447,UMLS ID:C1839650 | myelolymphatic insufficiency | MYELOLYMPHATIC INSUFFICIENCY | OMIM ID:310350 | MONDO:0010681 +BMGC_DS10459,BMG_DS038450,"Muscular Dystrophy, Hemizygous Lethal Type | MONDO:0010676 | muscular dystrophy, Hemizygous lethal type | MeSH ID:C564097 | OMIM ID:309950 | UMLS ID:C1839671" +BMGC_DS10460,BMG_DS038451,"Modifier, X-Linked, for Neurofunctional Defects | MeSH ID:C564098 | modifier, X-linked, for Neurofunctional defects | UMLS ID:C1839708 | OMIM ID:309840 | MONDO:0010673" +BMGC_DS10461,BMG_DS038454,OMIM ID:309630 | DOID:0111813 | MONDO:0010669 | OMIM ID:300827 | UMLS ID:C1839728 | METACARPAL 4-5 FUSION | syndactyly type 8 +BMGC_DS10462,BMG_DS038455,SNOMEDCT ID:722478008 | Skeletal dysplasia with intellectual disability syndrome | UMLS ID:C1839729 | Christian syndrome | Skeletal dysplasia with intellectual disability syndrome (disorder) | MONDO:0010668 | skeletal dysplasia-intellectual disability syndrome | OMIM ID:309620 +BMGC_DS10463,BMG_DS038456,MeSH ID:C535274 | Prieto syndrome | UMLS ID:C1839730 | MONDO:0010667 | OMIM ID:309610 +BMGC_DS10464,BMG_DS038457,Wieacker-Wolff syndrome | DOID:0060815 | UMLS ID:C1839735 +BMGC_DS10465,BMG_DS038458,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE | MONDO:0010665 | OMIM ID:309585 | Wilson-Turner syndrome | DOID:0060814 | UMLS ID:C1839736 | OMIM ID:300964" +BMGC_DS10466,BMG_DS038459,fragile X-associated tremor/ataxia syndrome | OMIM ID:309550 | FRAGILE X TREMOR/ATAXIA SYNDROME | DOID:0050879 | OMIM ID:300623 | UMLS ID:C1839780 | MONDO:0010382 +BMGC_DS10467,BMG_DS038460,UMLS ID:C1839792 | MONDO:0010658 | syndromic X-linked intellectual disability 12 | OMIM ID:309545 +BMGC_DS10468,BMG_DS038461,OMIM ID:MTHU025300 | UMLS ID:C1839832 | Noncompaction cardiomyopathy +BMGC_DS10469,BMG_DS038462,OMIM ID:309200 | MONDO:0010648 | UMLS ID:C1839839 | major affective disorder 2 +BMGC_DS10470,BMG_DS038463,"UMLS ID:C1839840 | MONDO:0013664 | MeSH ID:C564109 | 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | OMIM ID:614279 | Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase" +BMGC_DS10471,BMG_DS038464,"OMIM ID:309120 | OMIM ID:300311 | UMLS ID:C1839841 | DOID:0070185 | SPERMATOGENIC FAILURE, X-LINKED, 2 | MONDO:0010647 | X-linked spermatogenic failure 2 | spermatogenic failure, X-linked, 2" +BMGC_DS10472,BMG_DS038465,"MONDO:0010646 | Macular Dystrophy, X-Linked | MeSH ID:C564110 | macular dystrophy, X-linked | UMLS ID:C1839842 | OMIM ID:309100" +BMGC_DS10473,BMG_DS038466,"proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis | MeSH ID:C545036 | UMLS ID:C1839874 | OMIM ID:308990 | MONDO:0010644" +BMGC_DS10474,BMG_DS038467,OMIM ID:308950 | UMLS ID:C1839883 | MONDO:0010642 | Lesch-Nyhan phenotype with normal HGPRT +BMGC_DS10475,BMG_DS038468,"MeSH ID:C537113 | UMLS ID:C1839884 | X-linked diffuse leiomyomatosis-Alport syndrome | Leiomyomatosis, esophageal and vulval, with nephropathy | MONDO:0010641 | OMIM ID:308940" +BMGC_DS10476,BMG_DS038470,"UMLS ID:C1839891 | MONDO:0010640 | OMIM ID:308905 | Leber optic atrophy, susceptibility to" +BMGC_DS10477,BMG_DS038471,"X-linked complicated corpus callosum dysgenesis | CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED | MONDO:0010569 | OMIM ID:304100 | UMLS ID:C1839909 | OMIM ID:308840" +BMGC_DS10478,BMG_DS038472,UMLS ID:C1839910 | MeSH ID:C536158 | keratosis follicularis-dwarfism-cerebral atrophy syndrome | MONDO:0010638 | Keratosis follicularis dwarfism cerebral atrophy | OMIM ID:308830 +BMGC_DS10479,BMG_DS038473,Spastic paraplegia with Kallmann syndrome | OMIM ID:308750 | MONDO:0010636 | MeSH ID:C536873 | Kallmann syndrome with spastic paraplegia | UMLS ID:C1839911 +BMGC_DS10480,BMG_DS038474,"Jaundice, Familial Obstructive, of Infancy | MeSH ID:C564118 | OMIM ID:308600 | jaundice, familial obstructive, of infancy | UMLS ID:C1839927 | MONDO:0010634" +BMGC_DS10481,BMG_DS038475,iris hypoplasia with glaucoma | OMIM ID:308500 | UMLS ID:C1839928 | IRIS HYPOPLASIA WITH GLAUCOMA | anterior segment dysgenesis 3 | OMIM ID:601631 | DOID:0080608 | MONDO:0010633 +BMGC_DS10482,BMG_DS038477,"UMLS ID:C1839965 | OMIM ID:308280 | MONDO:0010629 | impacted teeth, multiple" +BMGC_DS10483,BMG_DS038479,"UMLS ID:C1839982 | MONDO:0010625 | immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein | OMIM ID:308220 | Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein | MeSH ID:C564120" +BMGC_DS10484,BMG_DS038480,ichthyosis follicularis-alopecia-photophobia syndrome 1 | DOID:0111821 | IFAP syndrome | MONDO:0100212 | MeSH ID:C536085 | Ichthyosis follicularis atrichia photophobia syndrome | UMLS ID:C1839988 +BMGC_DS10485,BMG_DS038483,ischiocoxopodopatellar syndrome | DOID:0111382 | coxopodopatellar syndrome | MONDO:0007841 | SMALL PATELLA SYNDROME | OMIM ID:147891 | UMLS ID:C1840061 +BMGC_DS10486,BMG_DS038484,"OMIM ID:147820 | internal carotid artery, spontaneous dissection of | UMLS ID:C1840073 | Internal Carotid Artery, Spontaneous Dissection of | MeSH ID:C564125 | MONDO:0007840" +BMGC_DS10487,BMG_DS038485,"iris pigment layer, cleavage of | UMLS ID:C1840140 | MONDO:0007833 | OMIM ID:147610" +BMGC_DS10488,BMG_DS038487,"MONDO:0007831 | UMLS ID:C1840171 | insect Stings, hypersensitivity to | OMIM ID:147540" +BMGC_DS10489,BMG_DS038490,"OMIM ID:147350 | incisors, rotation of upper central | MONDO:0007825 | UMLS ID:C1840224" +BMGC_DS10490,BMG_DS038492,OMIM ID:147250 | solitary median maxillary central incisor syndrome | MONDO:0007819 | UMLS ID:C1840235 +BMGC_DS10491,BMG_DS038494,"UMLS ID:C1840253 | OMIM ID:147050 | IgE responsiveness, atopic | MONDO:0007817 | IgE RESPONSIVENESS, ATOPIC" +BMGC_DS10492,BMG_DS038495,IMMUNE SUPPRESSION | UMLS ID:C1840264 | OMIM ID:146850 +BMGC_DS10493,BMG_DS038497,"MONDO:0007814 | MeSH ID:C564136 | immune deficiency, familial variable | Immune Deficiency, Familial Variable | UMLS ID:C1840266 | OMIM ID:146830" +BMGC_DS10494,BMG_DS038498,MONDO:0007811 | UMLS ID:C1840283 | ICHTHYOSIS--CHEEK--EYEBROW SYNDROME | OMIM ID:146720 | ichthyosis-cheek-eyebrow syndrome +BMGC_DS10495,BMG_DS038499,OMIM ID:613837 | MONDO:0013454 | Leber congenital amaurosis 11 | LEBER CONGENITAL AMAUROSIS 11 | UMLS ID:C1840284 | OMIM ID:146690 +BMGC_DS10496,BMG_DS038500,"Ichthyosis hystrix, Curth Macklin type | ichthyosis hystrix of Curth-Macklin | MeSH ID:C536088 | MONDO:0007808 | UMLS ID:C1840296 | OMIM ID:146590" +BMGC_DS10497,BMG_DS038502,OMIM ID:146520 | Hypotrichosis Simplex of Scalp | MONDO:0007805 | MeSH ID:C564143 | hypotrichosis 2 | UMLS ID:C1840299 +BMGC_DS10498,BMG_DS038503,OMIM ID:146350 | MONDO:0007799 | UMLS ID:C1840321 | HYPOPHOSPHATEMIC BONE DISEASE | hypophosphatemic bone disease +BMGC_DS10499,BMG_DS038504,Odontohypophosphatasia | MONDO:0016607 | SNOMEDCT ID:708672004 | UMLS ID:C1840322 | Odontohypophosphatasia (disorder) | MeSH ID:C564146 | odontohypophosphatasia +BMGC_DS10500,BMG_DS038505,"SNOMEDCT ID:724282009 | DOID:0060878 | MONDO:0007797 | hypoparathyroidism-deafness-renal disease syndrome | OMIM ID:146255 | HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome | HDR syndrome | UMLS ID:C1840333 | Hypoparathyroidism, deafness, renal disease syndrome | MeSH ID:C537907 | Hypoparathyroidism, deafness, renal disease syndrome (disorder) | Barakat syndrome" +BMGC_DS10501,BMG_DS038507,MONDO:0007795 | OMIM ID:146160 | MeSH ID:C537155 | mullerian duct anomalies-limb anomalies syndrome | UMLS ID:C1840335 | Hypomelia mullerian duct anomalies +BMGC_DS10502,BMG_DS038508,"familial hypocalciuric hypercalcemia 2 | MeSH ID:C537146 | OMIM ID:145981 | UMLS ID:C1840347 | MONDO:0007792 | Hypocalciuric hypercalcemia, familial, type 2" +BMGC_DS10503,BMG_DS038510,hypertrophia musculorum vera | OMIM ID:145800 | UMLS ID:C1840361 | Hypertrophia Musculorum Vera | MONDO:0007789 | MeSH ID:C564152 +BMGC_DS10504,BMG_DS038511,Ambras syndrome | UMLS ID:C1840362 | DOID:0111060 | OMIM ID:145701 | MONDO:0007787 | Ambras type hypertrichosis universalis congenita | MeSH ID:C536605 +BMGC_DS10505,BMG_DS038512,"THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY | MONDO:0007784 | OMIM ID:145650 | UMLS ID:C1840364 | OMIM ID:190160 | selective pituitary thyroid hormone resistance | selective pituitary resistance to thyroid hormone | DOID:0111374" +BMGC_DS10506,BMG_DS038513,King Denborough syndrome | OMIM ID:619542 | Koussef Nichols syndrome | UMLS ID:C1840365 | SNOMEDCT ID:764957003 | MONDO:0020485 | MeSH ID:C536883 | DOID:0080990 | King Denborough syndrome (disorder) | King-Denborough syndrome +BMGC_DS10507,BMG_DS038514,"hyperthermia, cutaneous, with headaches and nausea | UMLS ID:C1840373 | OMIM ID:145590 | Hyperthermia, Cutaneous, With Headaches And Nausea | MONDO:0007782 | MeSH ID:C564156" +BMGC_DS10508,BMG_DS038515,Hypertaurinuric Cardiomyopathy | MeSH ID:C564157 | UMLS ID:C1840385 +BMGC_DS10509,BMG_DS038516,"MONDO:0007776 | OMIM ID:145300 | UMLS ID:C1840386 | Familial hypersensitivity pneumonitis | MeSH ID:C536846 | hypersensitivity pneumonitis, familial" +BMGC_DS10510,BMG_DS038519,"MONDO:0007772 | Pseudohypoaldosteronism, Type IIa | MeSH ID:C564160 | OMIM ID:145260 | pseudohypoaldosteronism type 2A | UMLS ID:C1840389" +BMGC_DS10511,BMG_DS038520,"Pseudohypoaldosteronism, Type IIb | OMIM ID:614491 | MeSH ID:C564161 | UMLS ID:C1840390 | pseudohypoaldosteronism type 2B | MONDO:0013777" +BMGC_DS10512,BMG_DS038521,"UMLS ID:C1840391 | Pseudohypoaldosteronism, Type IIc | pseudohypoaldosteronism type 2C | OMIM ID:614492 | MONDO:0013778 | MeSH ID:C564162" +BMGC_DS10513,BMG_DS038522,"MONDO:0007771 | OMIM ID:145250 | hyperpigmentation with or without hypopigmentation, familial progressive | UMLS ID:C1840392" +BMGC_DS10514,BMG_DS038523,Hyperpigmentation of Fuldauer and Kuijpers | MeSH ID:C564164 | hyperpigmentation of Fuldauer and Kuijpers | MONDO:0007770 | UMLS ID:C1840393 | OMIM ID:145200 +BMGC_DS10515,BMG_DS038525,hyperparathyroidism 1 | HYPERPARATHYROIDISM 1 | MONDO:0007767 | UMLS ID:C1840402 | OMIM ID:607393 | OMIM ID:145000 +BMGC_DS10516,BMG_DS038527,Hyperostosis Cranialis Interna | MeSH ID:C564168 | hyperostosis cranialis interna | UMLS ID:C1840404 | OMIM ID:144755 | MONDO:0007765 +BMGC_DS10517,BMG_DS038528,"MONDO:0007760 | MeSH ID:C564170 | Hyperlipoproteinemia, Type II, and Deafness | hyperlipoproteinemia, type II, and deafness | UMLS ID:C1840425 | OMIM ID:144300" +BMGC_DS10518,BMG_DS038529,"MeSH ID:C564171 | Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads | UMLS ID:C1840427" +BMGC_DS10519,BMG_DS038532,OMIM ID:143860 | UMLS ID:C1840437 | isolated hyperchlorhidrosis | MONDO:0007747 | DOID:0111371 +BMGC_DS10520,BMG_DS038533,"UMLS ID:C1840438 | MONDO:0007746 | MeSH ID:C564174 | OMIM ID:143850 | Orthostatic Hypotensive Disorder, Streeten Type | orthostatic hypotensive disorder, Streeten type" +BMGC_DS10521,BMG_DS038534,"MULTICYSTIC RENAL DYSPLASIA, BILATERAL | UMLS ID:C1840451 | MONDO:0019982 | DOID:0080207 | bilateral multicystic dysplastic kidney | CAKUT2 | OMIM ID:143400" +BMGC_DS10522,BMG_DS038535,MeSH ID:C536075 | Hyaloideoretinal degeneration of Wagner | Wagner disease | UMLS ID:C1840452 | MONDO:0007740 | OMIM ID:143200 +BMGC_DS10523,BMG_DS038536,"UMLS ID:C1840475 | OMIM ID:143000 | congenital Horner syndrome | Horner Syndrome, Congenital | MONDO:0007735 | MeSH ID:C564178" +BMGC_DS10524,BMG_DS038537,holoprosencephaly 4 | UMLS ID:C1840528 | MONDO:0007734 | Holoprosencephaly 4 | OMIM ID:142946 | DOID:0110880 | MeSH ID:C564180 +BMGC_DS10525,BMG_DS038538,OMIM ID:142945 | MONDO:0007733 | holoprosencephaly 3 | OMIM ID:600725 | HOLOPROSENCEPHALY 3 | UMLS ID:C1840529 +BMGC_DS10526,BMG_DS038540,"MeSH ID:C538118 | familial acne inversa | UMLS ID:C1840560 | MONDO:0024516 | Hidradenitis suppurativa, familial" +BMGC_DS10527,BMG_DS038541,"Beukes hip dysplasia | hip dysplasia, Beukes type | UMLS ID:C1840572 | DOID:0111367 | HIP DYSPLASIA, BEUKES TYPE | OMIM ID:611482 | OMIM ID:142669 | MONDO:0007726" +BMGC_DS10528,BMG_DS038542,"hereditary progressive mucinous histiocytosis | OMIM ID:142630 | UMLS ID:C1840586 | MeSH ID:C564186 | Histiocytosis, Progressive Mucinous | MONDO:0007725" +BMGC_DS10529,BMG_DS038543,diaphragmatic hernia 1 | OMIM ID:142340 | MONDO:0007719 | UMLS ID:C1840643 +BMGC_DS10530,BMG_DS038544,"hepatic adenomas, familial | MONDO:0007718 | Hepatic Adenomas, Familial | OMIM ID:142330 | UMLS ID:C1840646 | MeSH ID:C564190" +BMGC_DS10531,BMG_DS038545,OMIM ID:142309 | MONDO:0007717 | 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 +BMGC_DS10532,BMG_DS038548,"MeSH ID:C564194 | Methemoglobinemia, Alpha-Globin Type | UMLS ID:C1841414" +BMGC_DS10533,BMG_DS038552,"MeSH ID:C564198 | UMLS ID:C1841639 | MONDO:0007713 | Hemifacial Spasm, Familial | OMIM ID:141405 | clonic hemifacial spasm" +BMGC_DS10534,BMG_DS038553,Hemifacial Hyperplasia With Strabismus | UMLS ID:C1841640 | Bencze syndrome | OMIM ID:141350 | MeSH ID:C564199 | MONDO:0007711 +BMGC_DS10535,BMG_DS038554,heme oxygenase 1 deficiency | OMIM ID:614034 | UMLS ID:C1841651 | MONDO:0013536 | MeSH ID:C564200 | Heme Oxygenase 1 Deficiency +BMGC_DS10536,BMG_DS038555,OMIM ID:140900 | UMLS ID:C1841654 | MONDO:0007707 | hemangiomas of small intestine +BMGC_DS10537,BMG_DS038556,"UMLS ID:C1841657 | MONDO:0007702 | MeSH ID:C535853 | OMIM ID:140450 | heart-hand syndrome type 3 | Heart-hand syndrome, Spanish type" +BMGC_DS10538,BMG_DS038557,"progressive familial heart block type II | UMLS ID:C1841658 | Progressive Familial Heart Block, Type II | OMIM ID:140400 | MeSH ID:C564202 | MONDO:0007701 | DOID:0111075" +BMGC_DS10539,BMG_DS038559,hand-foot-genital syndrome | MONDO:0007698 | OMIM ID:140000 | Hand foot uterus syndrome | UMLS ID:C1841679 | MeSH ID:C535627 +BMGC_DS10540,BMG_DS038563,hairy palms and soles | MONDO:0007695 | OMIM ID:139650 | UMLS ID:C1841694 +BMGC_DS10541,BMG_DS038564,hairy nose tip | OMIM ID:139630 | MONDO:0007694 | UMLS ID:C1841695 +BMGC_DS10542,BMG_DS038566,UMLS ID:C1841721 | OMIM ID:613856 | achromatopsia 4 | OMIM ID:139340 | MONDO:0013465 | ACHROMATOPSIA 4 +BMGC_DS10543,BMG_DS038567,"MeSH ID:C564207 | UMLS ID:C1841727 | Prolonged Bleeding Time, Brachydactyly, and Mental Retardation" +BMGC_DS10544,BMG_DS038571,Grant syndrome (disorder) | MeSH ID:C537293 | Grant syndrome | OMIM ID:138930 | MONDO:0007683 | UMLS ID:C1841835 | SNOMEDCT ID:723827003 +BMGC_DS10545,BMG_DS038578,MONDO:0014421 | UMLS ID:C1841972 | Glucocorticoid Receptor Deficiency | MeSH ID:C564221 | glucocorticoid resistance | OMIM ID:615962 +BMGC_DS10546,BMG_DS038579,"UMLS ID:C1841973 | Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance | MeSH ID:C564221" +BMGC_DS10547,BMG_DS038580,OMIM ID:138000 | MONDO:0007672 | glomuvenous malformation | UMLS ID:C1841984 | GLOMUVENOUS MALFORMATIONS | OMIM ID:601749 +BMGC_DS10548,BMG_DS038583,UMLS ID:C1842009 | OMIM ID:137900 | MeSH ID:C564229 | globulin anomaly involving beta (2A)-globulin | Globulin Anomaly involving Beta (2A)-Globulin | MONDO:0007668 +BMGC_DS10549,BMG_DS038584,UMLS ID:C1842025 | Glaucoma and Sleep Apnea | glaucoma-sleep apnea syndrome | MONDO:0007666 | MeSH ID:C564232 | OMIM ID:137763 +BMGC_DS10550,BMG_DS038585,"OMIM ID:137760 | UMLS ID:C1842026 | OMIM ID:602432 | GLAUCOMA 1, OPEN ANGLE, E" +BMGC_DS10551,BMG_DS038586,"juvenile glaucoma | OMIM ID:137750 | OMIM ID:601652 | GLAUCOMA 1, OPEN ANGLE, A | UMLS ID:C1842028 | MONDO:0007664 | DOID:1068 | glaucoma 1, open angle, A" +BMGC_DS10552,BMG_DS038588,"MONDO:0007662 | IRIDOGONIODYSGENESIS, TYPE 2 | DOID:0080609 | anterior segment dysgenesis 4 | UMLS ID:C1842031 | OMIM ID:137600" +BMGC_DS10553,BMG_DS038589,Giant Platelet Syndrome with Thrombocytopenia | MONDO:0007659 | MeSH ID:C564237 | UMLS ID:C1842035 | OMIM ID:137560 | obsolete giant platelet syndrome with thrombocytopenia +BMGC_DS10554,BMG_DS038590,DOID:0111359 | MONDO:0044792 | OMIM ID:137550 | UMLS ID:C1842036 | large congenital melanocytic nevus +BMGC_DS10555,BMG_DS038591,giant neutrophil leukocytes | UMLS ID:C1842039 | OMIM ID:137500 | GIANT NEUTROPHIL LEUKOCYTES | MONDO:0007657 +BMGC_DS10556,BMG_DS038596,"UMLS ID:C1842062 | MONDO:0012034 | OMIM ID:608423 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F | autosomal dominant limb-girdle muscular dystrophy type 1F" +BMGC_DS10557,BMG_DS038597,bradyopsia | UMLS ID:C1842073 | MONDO:0012033 | DOID:0050335 +BMGC_DS10558,BMG_DS038599,Platelet Glycoprotein IV Deficiency | MeSH ID:C564245 | platelet-type bleeding disorder 10 | OMIM ID:608404 | UMLS ID:C1842090 | MONDO:0012031 +BMGC_DS10559,BMG_DS038600,"MeSH ID:C564246 | UMLS ID:C1842108 | MONDO:0012030 | Deafness, Autosomal Dominant 43 | OMIM ID:608394 | autosomal dominant nonsyndromic hearing loss 43" +BMGC_DS10560,BMG_DS038601,"UMLS ID:C1842109 | Microcephaly, Primary Autosomal Recessive, 6 | MONDO:0012029 | OMIM ID:608393 | microcephaly 6, primary, autosomal recessive | MeSH ID:C564247" +BMGC_DS10561,BMG_DS038604,MONDO:0012025 | OMIM ID:608389 | Branchiootic Syndrome 3 | MeSH ID:C564248 | branchiootic syndrome 3 | UMLS ID:C1842124 +BMGC_DS10562,BMG_DS038605,retinitis pigmentosa 26 | MeSH ID:C564249 | UMLS ID:C1842127 | Retinitis Pigmentosa 26 | OMIM ID:608380 | MONDO:0012024 | DOID:0110368 +BMGC_DS10563,BMG_DS038606,"MeSH ID:C564250 | OMIM ID:608372 | MONDO:0012023 | UMLS ID:C1842136 | Deafness, Autosomal Dominant 49 | autosomal dominant nonsyndromic hearing loss 49" +BMGC_DS10564,BMG_DS038607,DOID:0080398 | OMIM ID:608371 | orofacial cleft 4 | MONDO:0012022 | Orofacial Cleft 4 | UMLS ID:C1842143 | MeSH ID:C564251 +BMGC_DS10565,BMG_DS038608,"DOID:0112282 | UMLS ID:C1842149 | MONDO:0012019 | spondyloepiphyseal dysplasia, Kimberley type | spondyloepiphyseal dysplasia Kimberley type | OMIM ID:608361" +BMGC_DS10566,BMG_DS038609,"OMIM ID:181430 | Myosin storage myopathy (disorder) | Myosin storage myopathy | congenital myopathy 7A, myosin storage, autosomal dominant | UMLS ID:C1842160 | MONDO:0008409 | OMIM ID:608358 | Hyaline body myopathy | SNOMEDCT ID:699267007" +BMGC_DS10567,BMG_DS038610,MONDO:0012016 | capillary malformation-arteriovenous malformation syndrome | Capillary Malformation-Arteriovenous Malformation | UMLS ID:C1842180 | MeSH ID:C564254 +BMGC_DS10568,BMG_DS038611,"OMIM ID:608345 | UMLS ID:C1842186 | nystagmus 3, congenital, autosomal dominant | MeSH ID:C537855 | MONDO:0012015 | Nystagmus 3, congenital, autosomal dominant" +BMGC_DS10569,BMG_DS038612,"Charcot-Marie-Tooth disease recessive intermediate A | MeSH ID:C564256 | Charcot-Marie-Tooth Disease, Recessive Intermediate A | MONDO:0012014 | UMLS ID:C1842197 | DOID:0110201 | OMIM ID:608340" +BMGC_DS10570,BMG_DS038613,"Charcot-Marie-Tooth disease dominant intermediate C | MeSH ID:C564257 | Charcot-Marie-Tooth Disease, Dominant Intermediate C | OMIM ID:608323 | DOID:0110199 | UMLS ID:C1842237 | MONDO:0012012" +BMGC_DS10571,BMG_DS038614,"UMLS ID:C1842247 | CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 | OMIM ID:608320 | coronary artery disease, autosomal dominant, 1 | MONDO:0012011" +BMGC_DS10572,BMG_DS038621,"UMLS ID:C1842342 | MONDO:0012003 | OMIM ID:608265 | MeSH ID:C564265 | autosomal recessive nonsyndromic hearing loss 39 | Deafness, Autosomal Recessive 39" +BMGC_DS10573,BMG_DS038622,"autosomal recessive nonsyndromic hearing loss 40 | UMLS ID:C1842345 | MeSH ID:C564266 | OMIM ID:608264 | MONDO:0012002 | Deafness, Autosomal Recessive 40" +BMGC_DS10574,BMG_DS038623,"MeSH ID:C564267 | OMIM ID:608257 | UMLS ID:C1842349 | MONDO:0012001 | Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant | mandibulofacial dysostosis with ptosis, autosomal dominant" +BMGC_DS10575,BMG_DS038624,OTOSCLEROSIS 3 | OMIM ID:608244 | MONDO:0011999 | otosclerosis 3 | UMLS ID:C1842353 | DOID:0060922 +BMGC_DS10576,BMG_DS038625,"MeSH ID:C564269 | OMIM ID:608236 | UMLS ID:C1842357 | MONDO:0011998 | Slowed Nerve Conduction Velocity, Autosomal Dominant | autosomal dominant slowed nerve conduction velocity" +BMGC_DS10577,BMG_DS038626,HERMANSKY-PUDLAK SYNDROME 2 | OMIM ID:603401 | OMIM ID:608233 | UMLS ID:C1842362 | MONDO:0011997 | Hermansky-Pudlak syndrome 2 +BMGC_DS10578,BMG_DS038627,"Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation | MeSH ID:C564271 | UMLS ID:C1842363 | OMIM ID:608227 | cataract - congenital heart disease - neural tube defect syndrome | MONDO:0011995" +BMGC_DS10579,BMG_DS038628,"OMIM ID:608224 | MONDO:0011994 | autosomal dominant nonsyndromic hearing loss 41 | Deafness, Autosomal Dominant 41 | MeSH ID:C564272 | UMLS ID:C1842371" +BMGC_DS10580,BMG_DS038630,"autosomal recessive nonsyndromic hearing loss 38 | OMIM ID:608219 | MONDO:0011991 | DEAFNESS, AUTOSOMAL RECESSIVE 38 | UMLS ID:C1842381" +BMGC_DS10581,BMG_DS038631,"MONDO:0011990 | seizures, benign familial neonatal, 3 | UMLS ID:C1842382 | MeSH ID:C564274 | Epilepsy, Benign Neonatal, 3 | OMIM ID:608217" +BMGC_DS10582,BMG_DS038632,immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | OMIM ID:608203 | Neutrophil Immunodeficiency Syndrome | DOID:0112064 | MONDO:0011988 | UMLS ID:C1842398 | MeSH ID:C564275 | neutrophil immunodeficiency syndrome +BMGC_DS10583,BMG_DS038633,OMIM ID:167790 | UMLS ID:C1842402 | MONDO:0011986 | OMIM ID:608189 | tropical pancreatitis | TROPICAL CALCIFIC PANCREATITIS +BMGC_DS10584,BMG_DS038634,"DOID:0060760 | OMIM ID:608184 | MONDO:0011985 | immunodeficiency with hyper-IgM type 4 | hyper-IgM syndrome type 4 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4 | UMLS ID:C1842413" +BMGC_DS10585,BMG_DS038635,UMLS ID:C1842422 | MONDO:0011984 | synpolydactyly type 2 | Synpolydactyly 2 | OMIM ID:608180 | MeSH ID:C564278 +BMGC_DS10586,BMG_DS038637,"OMIM ID:608175 | autoimmune thyroid disease, susceptibility to, 3 | MONDO:0011982 | UMLS ID:C1842444" +BMGC_DS10587,BMG_DS038640,OMIM ID:114290 | OMIM ID:608160 | UMLS ID:C1842462 | CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL +BMGC_DS10588,BMG_DS038642,8q22.1 microdeletion syndrome | 8q22.1 microdeletion syndrome (disorder) | MeSH ID:C536110 | UMLS ID:C1842464 | OMIM ID:608156 | SNOMEDCT ID:719664004 | MONDO:0011977 | Monosomy 8q22.1 | Nablus mask-like facial syndrome +BMGC_DS10589,BMG_DS038643,"OMIM ID:608154 | MeSH ID:C564283 | MONDO:0011976 | lipodystrophy-intellectual disability-deafness syndrome | Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones | UMLS ID:C1842465" +BMGC_DS10590,BMG_DS038645,Retinitis Pigmentosa 7 | DOID:0110383 | UMLS ID:C1842475 | MeSH ID:C564284 | OMIM ID:608133 | retinitis pigmentosa 7 | MONDO:0011974 +BMGC_DS10591,BMG_DS038646,"MONDO:0011973 | MeSH ID:C564286 | zinc deficiency, transient neonatal | OMIM ID:608118 | Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc | UMLS ID:C1842486" +BMGC_DS10592,BMG_DS038647,"UMLS ID:C1842531 | Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp | MONDO:0011970 | OMIM ID:608105 | rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | MeSH ID:C535499" +BMGC_DS10593,BMG_DS038648,MONDO:0012805 | OMIM ID:612126 | childhood onset GLUT1 deficiency syndrome 2 | MeSH ID:C564288 | Paroxysmal exertion-induced dyskinesia | glucose transporter type 1 deficiency syndrome 2 | DOID:0090045 | Paroxysmal exertion-induced dyskinesia (disorder) | UMLS ID:C1842534 | SNOMEDCT ID:724072002 | Dystonia 18 +BMGC_DS10594,BMG_DS038649,UMLS ID:C1842552 | Limb-girdle muscle atrophy | OMIM ID:MTHU002477 +BMGC_DS10595,BMG_DS038651,"UMLS ID:C1842563 | periventricular heterotopia with microcephaly, autosomal recessive | MeSH ID:C564292 | MONDO:0011966 | Heterotopia, Periventricular, Autosomal Recessive | OMIM ID:608097" +BMGC_DS10596,BMG_DS038653,OMIM ID:613277 | JOUBERT SYNDROME 2 | MONDO:0011963 | UMLS ID:C1842577 | OMIM ID:608091 | Joubert syndrome 2 +BMGC_DS10597,BMG_DS038654,"MeSH ID:C564296 | OMIM ID:608088 | hereditary sensory and autonomic neuropathy type 1B | MONDO:0011961 | hereditary sensory neuropathy type 1B | DOID:0070148 | Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux | UMLS ID:C1842586" +BMGC_DS10598,BMG_DS038655,DOID:0070087 | MONDO:0011960 | SCHIZOPHRENIA 11 | schizophrenia 11 | UMLS ID:C1842605 | OMIM ID:608078 +BMGC_DS10599,BMG_DS038657,"MONDO:0011956 | UMLS ID:C1842632 | OMIM ID:608049 | autism, susceptibility to, 3" +BMGC_DS10600,BMG_DS038662,"MeSH ID:C537312 | UMLS ID:C1842676 | autosomal recessive spinocerebellar ataxia 6 | DOID:0111617 | Spinocerebellar ataxia, autosomal recessive 6 | OMIM ID:608029 | infantile-onset autosomal recessive nonprogressive cerebellar ataxia | MONDO:0011950" +BMGC_DS10601,BMG_DS038664,UMLS ID:C1842687 | pontocerebellar hypoplasia type 3 | MeSH ID:C548072 | Pontocerebellar Hypoplasia Type 3 | OMIM ID:608027 | MONDO:0011948 | DOID:0060272 +BMGC_DS10602,BMG_DS038665,SNOMEDCT ID:721094006 | Diaphanospondylodysostosis (disorder) | MONDO:0011946 | Diaphanospondylodysostosis | UMLS ID:C1842691 | MeSH ID:C564305 | OMIM ID:608022 | diaphanospondylodysostosis +BMGC_DS10603,BMG_DS038666,"OMIM ID:606463 | Gaucher disease perinatal lethal | OMIM ID:608013 | UMLS ID:C1842704 | MONDO:0011945 | GAUCHER DISEASE, PERINATAL LETHAL" +BMGC_DS10604,BMG_DS038671,OMIM ID:607944 | Spondyloenchondrodysplasia with immune dysregulation | OMIM ID:171640 | UMLS ID:C1842763 | SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION | OMIM ID:271550 | MONDO:0011939 +BMGC_DS10605,BMG_DS038672,OMIM ID:607941 | MeSH ID:C538263 | MONDO:0011938 | Atrial septal defect 2 | atrial septal defect 2 | UMLS ID:C1842778 +BMGC_DS10606,BMG_DS038673,"DOID:0070523 | UMLS ID:C1842797 | Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like | peeling skin syndrome 4 | MeSH ID:C564309" +BMGC_DS10607,BMG_DS038674,RETINITIS PIGMENTOSA 30 | OMIM ID:607921 | UMLS ID:C1842816 | retinitis pigmentosa 30 | OMIM ID:607643 | MONDO:0011935 +BMGC_DS10608,BMG_DS038675,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | congenital disorder of glycosylation Ii | UMLS ID:C1842836 | MONDO:0011933 | ALG2-congenital disorder of glycosylation | DOID:0080561 | OMIM ID:607906 | OMIM ID:607905" +BMGC_DS10609,BMG_DS038676,OMIM ID:607903 | hypotrichosis 6 | HYPOTRICHOSIS 6 | OMIM ID:607892 | UMLS ID:C1842839 | DOID:0110703 | MONDO:0011932 +BMGC_DS10610,BMG_DS038677,"UMLS ID:C1842852 | epilepsy, familial adult myoclonic, 2 | MONDO:0011930 | OMIM ID:607876" +BMGC_DS10611,BMG_DS038678,MONDO:0011929 | Chromosome 1p36 Deletion Syndrome | chromosome 1p36 deletion syndrome | UMLS ID:C1842870 | DOID:0060410 | OMIM ID:607872 | MeSH ID:C535362 +BMGC_DS10612,BMG_DS038679,OMIM ID:607864 | MONDO:0011928 | Caudal Duplication Anomaly | MeSH ID:C564315 | UMLS ID:C1842884 | caudal duplication +BMGC_DS10613,BMG_DS038681,"MeSH ID:C564317 | UMLS ID:C1842898 | Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency" +BMGC_DS10614,BMG_DS038682,DOID:0050661 | Vitelliform Macular Dystrophy | MONDO:0011979 | adult-onset foveomacular vitelliform dystrophy | Adult-Onset Vitelliform Macular Dystrophy | vitelliform macular dystrophy | UMLS ID:C1842914 | MeSH ID:D057826 +BMGC_DS10615,BMG_DS038684,"UMLS ID:C1842930 | MeSH ID:C564320 | MONDO:0011922 | OMIM ID:607847 | Neutropenia, Nonimmune Chronic Idiopathic, Adult | nonimmune chronic idiopathic neutropenia of adults" +BMGC_DS10616,BMG_DS038685,"MONDO:0011921 | OMIM ID:607842 | aural atresia, congenital | UMLS ID:C1842937 | AURAL ATRESIA, CONGENITAL | OMIM ID:614427" +BMGC_DS10617,BMG_DS038686,"autosomal dominant nonsyndromic hearing loss 48 | UMLS ID:C1842939 | Deafness, Autosomal Dominant 48 | OMIM ID:607841 | MeSH ID:C564322 | MONDO:0011920" +BMGC_DS10618,BMG_DS038687,"OMIM ID:607836 | MONDO:0011919 | autoimmune disease, susceptibility to, 1 | UMLS ID:C1842979" +BMGC_DS10619,BMG_DS038688,"UMLS ID:C1842982 | OMIM ID:607832 | MONDO:0011917 | focal segmental glomerulosclerosis 3, susceptibility to" +BMGC_DS10620,BMG_DS038689,"Charcot-Marie-Tooth disease axonal type 2K | MONDO:0011916 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K | OMIM ID:607831 | UMLS ID:C1842983" +BMGC_DS10621,BMG_DS038690,"MONDO:0020558 | UMLS ID:C1842984 | MeSH ID:C564325 | Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k | autosomal dominant Charcot-Marie-Tooth disease type 2K" +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,OMIM ID:601618 | hypotrichosis-lymphedema-telangiectasia syndrome | MONDO:0011914 | HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME | OMIM ID:607823 | UMLS ID:C1843004 +BMGC_DS10624,BMG_DS038693,"Alzheimer disease 3 | Alzheimer disease, familial, type 3 | OMIM ID:607822 | UMLS ID:C1843013 | MONDO:0011913 | MeSH ID:C536598" +BMGC_DS10625,BMG_DS038694,"MeSH ID:C564329 | UMLS ID:C1843014 | Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques" +BMGC_DS10626,BMG_DS038695,"MeSH ID:C564330 | UMLS ID:C1843015 | Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia" +BMGC_DS10627,BMG_DS038696,"OMIM ID:607821 | MeSH ID:C564331 | autosomal recessive nonsyndromic hearing loss 37 | UMLS ID:C1843028 | MONDO:0011912 | Deafness, Autosomal Recessive 37" +BMGC_DS10628,BMG_DS038697,craniolenticulosutural dysplasia | Craniolenticulosutural Dysplasia | UMLS ID:C1843042 | DOID:0070307 | OMIM ID:607812 | MeSH ID:C564332 | MONDO:0011911 +BMGC_DS10629,BMG_DS038698,"Charcot-Marie-Tooth Disease, Dominant Intermediate D | OMIM ID:607791 | DOID:0110200 | MeSH ID:C564333 | UMLS ID:C1843075 | MONDO:0011909 | Charcot-Marie-Tooth disease dominant intermediate D" +BMGC_DS10630,BMG_DS038699,OMIM ID:607778 | MONDO:0011907 | MeSH ID:C564334 | UMLS ID:C1843096 | acrocapitofemoral dysplasia | Acrocapitofemoral Dysplasia | DOID:0050604 +BMGC_DS10631,BMG_DS038700,"MONDO:0011906 | UMLS ID:C1843116 | DOID:0111071 | OMIM ID:607765 | Bile acid synthesis defect, congenital, 1 | MeSH ID:C535442 | congenital bile acid synthesis defect 1" +BMGC_DS10632,BMG_DS038701,"MeSH ID:C564336 | UMLS ID:C1843139 | MONDO:0100327 | hypercholanemia, familial | Hypercholanemia, Familial" +BMGC_DS10633,BMG_DS038702,"UMLS ID:C1843140 | benign familial infantile seizures 3 | OMIM ID:607745 | SEIZURES, BENIGN FAMILIAL INFANTILE, 3 | DOID:0081116 | seizures, benign familial infantile, 3 | OMIM ID:182390 | MONDO:0011904" +BMGC_DS10634,BMG_DS038704,"Charcot-Marie-Tooth disease type 2J | OMIM ID:607736 | UMLS ID:C1843153 | Charcot-Marie-Tooth disease, Type 2J | MONDO:0011903 | MeSH ID:C535417" +BMGC_DS10635,BMG_DS038705,"OMIM ID:607734 | UMLS ID:C1843164 | Charcot-Marie-Tooth disease type 1F | MeSH ID:C537987 | Charcot-Marie-Tooth disease, demyelinating, Type 1F | MONDO:0011902" +BMGC_DS10636,BMG_DS038706,"MeSH ID:C535415 | Charcot-Marie-Tooth disease axonal type 2H | MONDO:0011901 | OMIM ID:607731 | Charcot-Marie-Tooth disease, Type 2H | UMLS ID:C1843173" +BMGC_DS10637,BMG_DS038708,Noonan syndrome-like disorder with loose anagen hair (disorder) | MONDO:0011899 | UMLS ID:C1843181 | Tosti syndrome | Noonan syndrome-like disorder with loose anagen hair | SNOMEDCT ID:723444009 +BMGC_DS10638,BMG_DS038709,"UMLS ID:C1843183 | MONDO:0011898 | MeSH ID:C539595 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | OMIM ID:607706 | Charcot-Marie-Tooth disease, Type 4A, axonal form" +BMGC_DS10639,BMG_DS038710,UMLS ID:C1843211 | Parkinson Disease 11 | MeSH ID:C564345 +BMGC_DS10640,BMG_DS038711,"UMLS ID:C1843225 | MeSH ID:C537994 | OMIM ID:607684 | Charcot-Marie-Tooth disease type 2E | Charcot-Marie-Tooth disease, Type 2E | MONDO:0011894" +BMGC_DS10641,BMG_DS038714,"OMIM ID:607678 | DOID:0110150 | UMLS ID:C1843247 | MeSH ID:C537985 | Charcot-Marie-Tooth disease type 1D | Charcot-Marie-Tooth disease, Type 1D | MONDO:0011890" +BMGC_DS10642,BMG_DS038715,IRAK4 Deficiency | MONDO:0011888 | immunodeficiency 67 | MeSH ID:C564352 | OMIM ID:607676 | UMLS ID:C1843256 +BMGC_DS10643,BMG_DS038716,"UMLS ID:C1843257 | MeSH ID:C564353 | cataract, congenital, with mental impairment and dentate gyrus atrophy | Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy | OMIM ID:607674 | MONDO:0011887" +BMGC_DS10644,BMG_DS038717,torsion dystonia 13 | UMLS ID:C1843264 | MONDO:0011886 | OMIM ID:607671 +BMGC_DS10645,BMG_DS038724,UMLS ID:C1843292 | OMIM ID:620415 | woolly hair-skin fragility syndrome | MeSH ID:C564359 | Skin Fragility-Woolly Hair Syndrome | MONDO:0957307 +BMGC_DS10646,BMG_DS038725,"candidiasis, familial, 3 | MONDO:0011880 | CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY | UMLS ID:C1843306 | OMIM ID:607644" +BMGC_DS10647,BMG_DS038726,"MeSH ID:C564362 | OMIM ID:607641 | UMLS ID:C1843315 | MONDO:0011879 | neuronopathy, distal hereditary motor, type 7B | Neuronopathy, Distal Hereditary Motor, Type Viib" +BMGC_DS10648,BMG_DS038727,MeSH ID:C536527 | Van Buchem disease type 2 | UMLS ID:C1843323 +BMGC_DS10649,BMG_DS038728,"autosomal dominant osteopetrosis 1 | MONDO:0011877 | OMIM ID:607634 | UMLS ID:C1843330 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 | DOID:0110937 | OMIM ID:603506" +BMGC_DS10650,BMG_DS038729,"MONDO:0011874 | UMLS ID:C1843355 | neonatal ichthyosis-sclerosing cholangitis syndrome | OMIM ID:607626 | ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS | OMIM ID:603718" +BMGC_DS10651,BMG_DS038730,"OMIM ID:607625 | Niemann-Pick disease, type C2 | UMLS ID:C1843366 | NIEMANN-PICK DISEASE, TYPE C2 | MONDO:0011873 | OMIM ID:601015" +BMGC_DS10652,BMG_DS038733,"MeSH ID:C564367 | MONDO:0011870 | UMLS ID:C1843463 | annular epidermolytic ichthyosis | Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis" +BMGC_DS10653,BMG_DS038735,MeSH ID:C564369 | Lethal Congenital Contracture Syndrome 2 | lethal congenital contracture syndrome 2 | UMLS ID:C1843478 | MONDO:0011868 | DOID:0060560 | OMIM ID:607598 +BMGC_DS10654,BMG_DS038738,"Pontocerebellar Hypoplasia, Type 1a | UMLS ID:C1843504 | DOID:0112322 | OMIM ID:607596 | pontocerebellar hypoplasia type 1A | MONDO:0011866 | MeSH ID:C548069 | pontocerebellar hypoplasia type 1" +BMGC_DS10655,BMG_DS038742,"MeSH ID:C564375 | MONDO:0011862 | Spastic Paraplegia 24, Autosomal Recessive | hereditary spastic paraplegia 24 | UMLS ID:C1843569 | 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 | MONDO:0011858 | spastic paraplegia, ataxia, and intellectual disability | OMIM ID:607565" +BMGC_DS10658,BMG_DS038745,"MeSH ID:C538261 | atrial fibrillation, familial, 1 | OMIM ID:608583 | MONDO:0012066 | Atrial fibrillation, familial 1 | UMLS ID:C1843687" +BMGC_DS10659,BMG_DS038749,"MONDO:0011853 | OMIM ID:607539 | UMLS ID:C1843758 | Camptosynpolydactyly, complex" +BMGC_DS10660,BMG_DS038750,"DOID:0080086 | TOENAIL DYSTROPHY, ISOLATED | nonsyndromic congenital nail disorder 8 | UMLS ID:C1843761 | OMIM ID:607523 | MONDO:0011852" +BMGC_DS10661,BMG_DS038751,"migraine with or without aura, susceptibility to, 6 | MONDO:0011851 | OMIM ID:607516 | UMLS ID:C1843765" +BMGC_DS10662,BMG_DS038753,"MONDO:0011850 | OMIM ID:607508 | migraine with or without aura, susceptibility to, 5 | UMLS ID:C1843771" +BMGC_DS10663,BMG_DS038755,"UMLS ID:C1843773 | MONDO:0011847 | OMIM ID:607501 | migraine without aura, susceptibility to, 4" +BMGC_DS10664,BMG_DS038756,"OMIM ID:607499 | UMLS ID:C1843776 | bulimia nervosa, susceptibility to, 1 | MONDO:0011846" +BMGC_DS10665,BMG_DS038757,"MONDO:0011845 | OMIM ID:607498 | UMLS ID:C1843782 | migraine with or without aura, susceptibility to, 3" +BMGC_DS10666,BMG_DS038758,"OMIM ID:607488 | UMLS ID:C1843786 | DYSTONIA 15, MYOCLONIC | MONDO:0011844 | DOID:0090035 | myoclonic dystonia 15" +BMGC_DS10667,BMG_DS038759,"OMIM ID:607485 | FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED | MONDO:0011842 | GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | UMLS ID:C1843792" +BMGC_DS10668,BMG_DS038760,Thiamine metabolism dysfunction syndrome 2 | UMLS ID:C1843807 | MONDO:0011841 | Biotin-responsive basal ganglia disease | OMIM ID:607483 | Biotin-thiamine-responsive basal ganglia disease (disorder) | Thiamine transporter-2 deficiency | biotin-responsive basal ganglia disease | Biotin-thiamine-responsive basal ganglia disease | SNOMEDCT ID:703522009 +BMGC_DS10669,BMG_DS038761,"OMIM ID:607482 | OMIM ID:600824 | CARDIOMYOPATHY, DILATED, 1M | dilated cardiomyopathy 1M | UMLS ID:C1843808 | MONDO:0011840" +BMGC_DS10670,BMG_DS038762,Newfoundland cone-rod dystrophy | OMIM ID:607476 | UMLS ID:C1843815 | Newfoundland Rod-Cone Dystrophy | MONDO:0011839 | MeSH ID:C564391 +BMGC_DS10671,BMG_DS038763,MeSH ID:C564392 | Bothnia retinal dystrophy | DOID:0050683 | MONDO:0011838 | UMLS ID:C1843816 | Bothnia Retinal Dystrophy | OMIM ID:607475 +BMGC_DS10672,BMG_DS038764,"vitamin K-dependent clotting factors, combined deficiency of, type 2 | OMIM ID:607473 | OMIM ID:608547 | MONDO:0011837 | UMLS ID:C1843832 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2" +BMGC_DS10673,BMG_DS038765,"MONDO:0011835 | UMLS ID:C1843851 | DOID:0111276 | MeSH ID:C537583 | OMIM ID:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | OMIM ID:613832 | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" +BMGC_DS10674,BMG_DS038766,OMIM ID:174763 | spinocerebellar ataxia with epilepsy | SPINOCEREBELLAR ATAXIA WITH EPILEPSY | MONDO:0016809 | OMIM ID:607459 | UMLS ID:C1843852 +BMGC_DS10675,BMG_DS038767,OMIM ID:607458 | MONDO:0011834 | SPINOCEREBELLAR ATAXIA 18 | DOID:0050969 | spinocerebellar ataxia type 18 | UMLS ID:C1843884 +BMGC_DS10676,BMG_DS038768,OMIM ID:607457 | GIL BLOOD GROUP | OMIM ID:600170 | UMLS ID:C1843889 +BMGC_DS10677,BMG_DS038769,DOID:0050972 | MONDO:0011833 | OMIM ID:616101 | OMIM ID:607454 | UMLS ID:C1843891 | spinocerebellar ataxia type 21 | SPINOCEREBELLAR ATAXIA 21 +BMGC_DS10678,BMG_DS038770,"OMIM ID:607453 | UMLS ID:C1843895 | Deafness, Autosomal Dominant 44 | autosomal dominant nonsyndromic hearing loss 44 | MeSH ID:C564399 | MONDO:0011832" +BMGC_DS10679,BMG_DS038771,"OMIM ID:607450 | MeSH ID:C564400 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | UMLS ID:C1843896 | arrhythmogenic right ventricular dysplasia 8 | MONDO:0011831" +BMGC_DS10680,BMG_DS038772,MONDO:0018151 | coenzyme Q10 deficiency | UMLS ID:C1843920 +BMGC_DS10681,BMG_DS038773,"OMIM ID:607417 | intellectual disability, autosomal recessive 2 | UMLS ID:C1843942 | MONDO:0011828" +BMGC_DS10682,BMG_DS038774,"Hypouricemia, Familial Renal, due to Tubular Hypersecretion | MeSH ID:C564405 | UMLS ID:C1843972 | MONDO:0010620 | OMIM ID:307830 | hypouricemia, familial renal, due to tubular hypersecretion" +BMGC_DS10683,BMG_DS038775,"male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome | OMIM ID:307500 | MONDO:0010617 | Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies | MeSH ID:C564406 | UMLS ID:C1843994" +BMGC_DS10684,BMG_DS038778,"UMLS ID:C1844006 | MeSH ID:C564408 | Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction" +BMGC_DS10685,BMG_DS038779,holoprosencephaly-hypokinesia-congenital contractures syndrome | MONDO:0010610 | MeSH ID:C564409 | OMIM ID:306990 | Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence | UMLS ID:C1844016 +BMGC_DS10686,BMG_DS038780,Hirschsprung disease type d brachydactyly | Hirschsprung disease-type D brachydactyly syndrome | OMIM ID:306980 | UMLS ID:C1844017 | MeSH ID:C538319 | MONDO:0016294 +BMGC_DS10687,BMG_DS038781,UMLS ID:C1844019 | Hhhh syndrome | OMIM ID:306960 | Hhhh Syndrome | MeSH ID:C564411 | MONDO:0010608 +BMGC_DS10688,BMG_DS038782,"MONDO:0010607 | HETEROTAXY, VISCERAL, 1, X-LINKED | OMIM ID:300265 | OMIM ID:306955 | heterotaxy, visceral, 1, X-linked | UMLS ID:C1844020" +BMGC_DS10689,BMG_DS038783,"MONDO:0010606 | hernia, anterior diaphragmatic | UMLS ID:C1844025 | OMIM ID:306950" +BMGC_DS10690,BMG_DS038784,UMLS ID:C1844026 | hemopoietic proliferation | MONDO:0010605 | OMIM ID:306930 +BMGC_DS10691,BMG_DS038787,"MONDO:0010600 | MeSH ID:D006105 | Granulomatous Disease, Chronic, X-Linked | UMLS ID:C1844376 | OMIM ID:138990 | OMIM ID:306400 | Granulomatous Disease, Chronic | granulomatous disease, chronic, X-linked" +BMGC_DS10692,BMG_DS038789,"Granulomas, congenital cerebral | UMLS ID:C1844406 | MONDO:0010599 | OMIM ID:306300 | MeSH ID:C537294 | granulomas, congenital cerebral" +BMGC_DS10693,BMG_DS038792,"MeSH ID:C564423 | UMLS ID:C1844501 | membranoproliferative glomerulonephritis, X-linked | OMIM ID:305800 | Membranoproliferative Glomerulonephritis, X-Linked | MONDO:0010596" +BMGC_DS10694,BMG_DS038793,Fingerprint Body Myopathy | fingerprint body myopathy | OMIM ID:305550 | MeSH ID:C564425 | UMLS ID:C1844560 | MONDO:0010591 +BMGC_DS10695,BMG_DS038795,"MONDO:0010588 | Exudative Vitreoretinopathy, Familial, X-Linked Recessive | MeSH ID:C564428 | OMIM ID:305390 | UMLS ID:C1844579 | exudative vitreoretinopathy 2, X-linked" +BMGC_DS10696,BMG_DS038798,"MeSH ID:C535726 | Dyggve-Melchior-Clausen syndrome, X-linked | MONDO:0010583 | OMIM ID:304950 | UMLS ID:C1844654 | X-linked Dyggve-Melchior-Clausen syndrome" +BMGC_DS10697,BMG_DS038799,MONDO:0010579 | UMLS ID:C1844671 | Dermoids of cornea | OMIM ID:304730 | X-linked corneal dermoid | MeSH ID:C535376 +BMGC_DS10698,BMG_DS038801,"hearing loss, X-linked 1 | MeSH ID:C564433 | MONDO:0010577 | Deafness, X-Linked 1 | OMIM ID:304500 | UMLS ID:C1844677" +BMGC_DS10699,BMG_DS038802,X-linked mixed hearing loss with perilymphatic gusher | MONDO:0010576 | Progressive hearing loss stapes fixation | UMLS ID:C1844678 | OMIM ID:304400 | MeSH ID:C536424 +BMGC_DS10700,BMG_DS038804,"OTOPALATODIGITAL SYNDROME, TYPE II | DOID:0111784 | UMLS ID:C1844696 | OMIM ID:304120 | OMIM ID:300017 | otopalatodigital syndrome type 2 | MONDO:0010571" +BMGC_DS10701,BMG_DS038806,"X-linked cone-rod dystrophy 1 | CONE-ROD DYSTROPHY, X-LINKED, 1 | OMIM ID:312610 | UMLS ID:C1844776 | OMIM ID:304020 | MONDO:0010566 | DOID:0111008" +BMGC_DS10702,BMG_DS038807,"UMLS ID:C1844777 | MONDO:0800320 | OMIM ID:312610 | cone dystrophy 1, X-linked | CONE DYSTROPHY, X-LINKED, 1" +BMGC_DS10703,BMG_DS038808,"CLEFT PALATE, X-LINKED | OMIM ID:300307 | OMIM ID:303400 | cleft palate with or without ankyloglossia, X-linked | UMLS ID:C1844830 | MONDO:0010560" +BMGC_DS10704,BMG_DS038809,MeSH ID:C564442 | Cleft Palate with Ankyloglossia | UMLS ID:C1844831 +BMGC_DS10705,BMG_DS038810,MeSH ID:C537793 | Ayazi syndrome | UMLS ID:C1844836 | Choroideraemia with deafness and obesity syndrome | Xq21 microdeletion syndrome | SNOMEDCT ID:717761005 | Choroideremia with deafness and obesity syndrome (disorder) | Choroideremia with deafness and obesity syndrome +BMGC_DS10706,BMG_DS038811,"Brachytelephalangic Chondrodysplasia Punctata | OMIM ID:602497 | MeSH ID:C000705207 | UMLS ID:C1844853 | MONDO:0011238 | chondrodysplasia punctata, brachytelephalangic, autosomal" +BMGC_DS10707,BMG_DS038812,Cleft palate with coloboma of eye and deafness syndrome | UMLS ID:C1844862 | Abruzzo-Erickson syndrome | Cleft palate with coloboma of eye and deafness syndrome (disorder) | SNOMEDCT ID:718574003 | MeSH ID:C535559 | Abruzzo Erickson syndrome | MONDO:0010554 | DOID:0111826 | CHARGE-like syndrome | OMIM ID:302905 +BMGC_DS10708,BMG_DS038814,"UMLS ID:C1844864 | MeSH ID:C538077 | Charcot Marie Tooth type 1 aplasia cutis congenita | OMIM ID:302803 | Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita | MONDO:0010552" +BMGC_DS10709,BMG_DS038815,"MONDO:0010551 | UMLS ID:C1844865 | Charcot-Marie-Tooth disease X-linked recessive 3 | DOID:0110211 | Charcot-Marie-Tooth disease, X-linked recessive, 3 | MeSH ID:C535303 | OMIM ID:302802" +BMGC_DS10710,BMG_DS038816,"MeSH ID:C535302 | MONDO:0010550 | UMLS ID:C1844873 | Charcot-Marie-Tooth disease, X-linked recessive, 2 | DOID:0110208 | OMIM ID:302801 | Charcot-Marie-Tooth disease X-linked recessive 2" +BMGC_DS10711,BMG_DS038817,"UMLS ID:C1844884 | OMIM ID:302700 | MeSH ID:C564449 | MONDO:0060456 | cerebral sclerosis, diffuse, scholz type | Cerebral Sclerosis, Diffuse, Scholz Type" +BMGC_DS10712,BMG_DS038818,"UMLS ID:C1844885 | MONDO:0010548 | OMIM ID:302600 | spinocerebellar ataxia, X-linked 2 | SPINOCEREBELLAR ATAXIA, X-LINKED 2 | X-linked spinocerebellar ataxia 2 | DOID:0111830" +BMGC_DS10713,BMG_DS038819,"MONDO:0010546 | UMLS ID:C1844886 | central incisors, absence of | OMIM ID:302400" +BMGC_DS10714,BMG_DS038820,MONDO:0014507 | UMLS ID:C1844887 | Catel Manzke syndrome | OMIM ID:616145 | Micrognathia digital syndrome | Catel-Manzke syndrome | Catel Manzke syndrome (disorder) | SNOMEDCT ID:722383001 | Palatodigital syndrome Catel-Manzke type | MeSH ID:C535347 | OMIM ID:302380 | DOID:0081122 +BMGC_DS10715,BMG_DS038823,MONDO:0010539 | OMIM ID:301950 | UMLS ID:C1844918 | X-linked mandibulofacial dysostosis | Branchial arch syndrome X-linked | MeSH ID:C537102 +BMGC_DS10716,BMG_DS038826,"DOID:0111827 | Arthrogryposis multiplex congenita, distal, X-linked | MeSH ID:C535380 | UMLS ID:C1844934 | infantile-onset X-linked spinal muscular atrophy | MONDO:0010532 | X-linked spinal muscular atrophy 2 | OMIM ID:301830" +BMGC_DS10717,BMG_DS038829,Microphthalmia with ankyloblepharon and intellectual disability syndrome | Syndromic microphthalmia type 4 | syndromic microphthalmia 1 | UMLS ID:C1844948 | DOID:0111799 | Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) | SNOMEDCT ID:717222003 +BMGC_DS10718,BMG_DS038830,"neural tube defects, X-linked | UMLS ID:C1845026 | MONDO:0010525 | Neural tube defects X-linked | MeSH ID:C536410 | OMIM ID:301410" +BMGC_DS10719,BMG_DS038832,"UMLS ID:C1845028 | OMIM ID:301310 | ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA | X-linked sideroblastic anemia with ataxia | DOID:0050554 | MONDO:0010524" +BMGC_DS10720,BMG_DS038833,OMIM ID:301220 | X-linked reticulate pigmentary disorder | UMLS ID:C1845050 | MONDO:0010523 | DOID:0111834 +BMGC_DS10721,BMG_DS038834,"OMIM ID:301201 | MONDO:0010522 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 | UMLS ID:C1845051 | X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2" +BMGC_DS10722,BMG_DS038835,"OMIM ID:301200 | AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 | UMLS ID:C1845052" +BMGC_DS10723,BMG_DS038836,"MeSH ID:C564463 | Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth | amelogenesis imperfecta type 1E | UMLS ID:C1845053 | OMIM ID:301200 | MONDO:0010521" +BMGC_DS10724,BMG_DS038837,OMIM ID:301040 | UMLS ID:C1845055 | Alpha thalassaemia X-linked intellectual deficit | Alpha thalassemia X-linked intellectual disability syndrome | Alpha thalassemia X-linked intellectual disability syndrome (disorder) | alpha thalassemia-X-linked intellectual disability syndrome | Alpha thalassemia X-linked intellectual deficit | MONDO:0010519 | Alpha thalassaemia X-linked intellectual disability syndrome | SNOMEDCT ID:715342005 +BMGC_DS10725,BMG_DS038838,UMLS ID:C1845068 | ALBINISM-DEAFNESS SYNDROME | MONDO:0010403 | albinism-hearing loss syndrome | OMIM ID:300700 +BMGC_DS10726,BMG_DS038839,UMLS ID:C1845069 | MONDO:0010390 | OMIM ID:300650 | SNOMEDCT ID:722054007 | ocular albinism with late-onset sensorineural deafness | Ocular albinism with late-onset sensorineural deafness | Ocular albinism with late-onset sensorineural deafness (disorder) +BMGC_DS10727,BMG_DS038840,"OMIM ID:300643 | Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked | UMLS ID:C1845070 | MeSH ID:C564467 | MONDO:0010388 | rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked" +BMGC_DS10728,BMG_DS038841,"Invasive Pneumococcal Disease, Recurrent Isolated, 2 | UMLS ID:C1845073 | MeSH ID:C564468" +BMGC_DS10729,BMG_DS038842,"MeSH ID:C564469 | X-linked lymphoproliferative disease due to XIAP deficiency | Lymphoproliferative Syndrome, X-Linked, 2 | OMIM ID:300635 | UMLS ID:C1845076 | MONDO:0010385" +BMGC_DS10730,BMG_DS038843,"Cataracts, ataxia, short stature, and mental retardation | OMIM ID:300619 | MONDO:0010380 | UMLS ID:C1845094 | MeSH ID:C535345 | cataract, ataxia, short stature, and intellectual disability" +BMGC_DS10731,BMG_DS038844,"UMLS ID:C1845095 | MeSH ID:C564472 | Deafness, X-Linked 5" +BMGC_DS10732,BMG_DS038846,"MeSH ID:C564474 | developmental and epileptic encephalopathy, 8 | OMIM ID:300607 | Hyperekplexia and Epilepsy | MONDO:0010375 | UMLS ID:C1845102" +BMGC_DS10733,BMG_DS038847,UMLS ID:C1845104 | DOID:0110417 | Retinitis Pigmentosa 34 | retinitis pigmentosa 34 | OMIM ID:300605 | MONDO:0010374 | MeSH ID:C564475 +BMGC_DS10734,BMG_DS038848,MONDO:0010373 | premature ovarian failure 2B | UMLS ID:C1845105 | OMIM ID:300604 | MeSH ID:C564476 | Premature Ovarian Failure 2b +BMGC_DS10735,BMG_DS038849,"OMIM ID:300589 | UMLS ID:C1845116 | MONDO:0010369 | MeSH ID:C564478 | nystagmus 5, congenital, X-linked | Nystagmus 5, Infantile Periodic Alternating" +BMGC_DS10736,BMG_DS038851,SHOX-related short stature | MONDO:0010367 | UMLS ID:C1845118 | OMIM ID:300582 +BMGC_DS10737,BMG_DS038852,OMIM ID:300581 | UMLS ID:C1845119 | MeSH ID:C564480 | MONDO:0010366 | FG syndrome 5 | Fg Syndrome 5 +BMGC_DS10738,BMG_DS038853,X-linked intellectual disability-retinitis pigmentosa syndrome | OMIM ID:300578 | MeSH ID:C564481 | Chromosome Xp11.3 Deletion Syndrome | UMLS ID:C1845136 | MONDO:0010364 +BMGC_DS10739,BMG_DS038854,"UMLS ID:C1845142 | MONDO:0010363 | OMIM ID:300577 | intellectual disability, X-linked 91" +BMGC_DS10740,BMG_DS038855,"OMIM ID:300851 | MONDO:0010453 | UMLS ID:C1845144 | intellectual disability, X-linked 92" +BMGC_DS10741,BMG_DS038856,UMLS ID:C1845146 | OMIM ID:615465 | MONDO:0014196 | Hartsfield-Bixler-Demyer syndrome +BMGC_DS10742,BMG_DS038857,"MeSH ID:C564485 | glycogen storage disease IXd | OMIM ID:300559 | UMLS ID:C1845151 | Glycogen Storage Disease, Type IXD | MONDO:0010362" +BMGC_DS10743,BMG_DS038859,Dent disease 2 | Dent disease type 2 | MONDO:0010359 | DOID:0081454 | UMLS ID:C1845167 | MeSH ID:C564487 | Dent Disease 2 | OMIM ID:300555 +BMGC_DS10744,BMG_DS038860,"UMLS ID:C1845168 | MONDO:0010358 | Familial Hypophosphatemic Rickets | Hypophosphatemic Rickets, X-Linked Recessive | hypophosphatemic rickets, X-linked recessive | MeSH ID:D053098 | OMIM ID:300554 | DOID:0050445 | X-linked dominant hypophosphatemic rickets" +BMGC_DS10745,BMG_DS038861,UMLS ID:C1845202 | nephrogenic syndrome of inappropriate antidiuresis | MONDO:0010356 | Nephrogenic Syndrome of Inappropriate Antidiuresis | DOID:0112121 | OMIM ID:300539 | MeSH ID:C564491 +BMGC_DS10746,BMG_DS038863,"OMIM ID:300534 | OMIM ID:314690 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE | MONDO:0010355 | syndromic X-linked intellectual disability Claes-Jensen type | UMLS ID:C1845243" +BMGC_DS10747,BMG_DS038864,"Martin-Probst Deafness-Mental Retardation Syndrome | OMIM ID:300519 | deafness-intellectual disability, Martin-Probst type syndrome | UMLS ID:C1845285 | MeSH ID:C564495 | MONDO:0010353" +BMGC_DS10748,BMG_DS038865,"OMIM ID:300518 | MONDO:0010352 | intellectual disability, X-linked 82 | UMLS ID:C1845286" +BMGC_DS10749,BMG_DS038866,"UMLS ID:C1845292 | FANCONI ANEMIA, COMPLEMENTATION GROUP B | OMIM ID:300514 | MONDO:0010351 | Fanconi anemia complementation group B | OMIM ID:300515 | DOID:0111098" +BMGC_DS10750,BMG_DS038867,OMIM ID:300511 | premature ovarian failure 2A | UMLS ID:C1845293 | MeSH ID:C564498 | MONDO:0010350 | Premature Ovarian Failure 2a +BMGC_DS10751,BMG_DS038868,UMLS ID:C1845294 | Ovarian Dysgenesis 2 | DOID:0080494 | MONDO:0010349 | ovarian dysgenesis 2 | OMIM ID:300510 | MeSH ID:C564499 +BMGC_DS10752,BMG_DS038869,DOID:0080494 | ovarian dysgenesis 2 | MONDO:0800317 | premature ovarian failure 4 | MeSH ID:C564499 | Premature Ovarian Failure 4 | UMLS ID:C1845295 +BMGC_DS10753,BMG_DS038871,"MONDO:0010347 | OMIM ID:300505 | intellectual disability, X-linked 84 | UMLS ID:C1845297" +BMGC_DS10754,BMG_DS038872,"intellectual disability, X-linked 45 | OMIM ID:300498 | UMLS ID:C1845333 | MONDO:0010344" +BMGC_DS10755,BMG_DS038873,"OMIM ID:300496 | UMLS ID:C1845336 | autism, susceptibility to, X-linked 3 | MONDO:0010342" +BMGC_DS10756,BMG_DS038874,"Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders | MeSH ID:C564505 | X-linked epilepsy with variable learning disabilities and behavior disorders | UMLS ID:C1845343 | DOID:0112122" +BMGC_DS10757,BMG_DS038875,"X-linked distal spinal muscular atrophy 3 | UMLS ID:C1845359 | X-linked distal spinal muscular atrophy type 3 | Spinal Muscular Atrophy, Distal, X-Linked 3 | OMIM ID:300489 | MONDO:0010338 | DOID:0111196 | MeSH ID:C564506" +BMGC_DS10758,BMG_DS038876,"UMLS ID:C1845366 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | MONDO:0010337 | MeSH ID:C537456 | OMIM ID:300486 | X-linked intellectual disability-cerebellar hypoplasia syndrome" +BMGC_DS10759,BMG_DS038878,"CONE-ROD DYSTROPHY, X-LINKED, 3 | OMIM ID:300110 | OMIM ID:300476 | UMLS ID:C1845407 | DOID:0111007 | MONDO:0010335 | X-linked cone-rod dystrophy 3" +BMGC_DS10760,BMG_DS038879,"MONDO:0010333 | OMIM ID:300472 | UMLS ID:C1845446 | Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia | MeSH ID:C564509 | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome" +BMGC_DS10761,BMG_DS038882,"UMLS ID:C1845499 | MONDO:0010329 | OMIM ID:300454 | intellectual disability, X-linked 77" +BMGC_DS10762,BMG_DS038883,"OMIM ID:300436 | MONDO:0010326 | UMLS ID:C1845526 | intellectual disability, X-linked 46" +BMGC_DS10763,BMG_DS038884,"Stocco dos Santos syndrome | X-linked intellectual disability, Stocco dos Santos type | UMLS ID:C1845530 | MONDO:0010325 | OMIM ID:300434 | MeSH ID:C537495" +BMGC_DS10764,BMG_DS038885,"UMLS ID:C1845531 | MONDO:0010324 | OMIM ID:300433 | intellectual disability, X-linked 81" +BMGC_DS10765,BMG_DS038886,"OMIM ID:300495 | MONDO:0010341 | autism, susceptibility to, X-linked 2 | UMLS ID:C1845539" +BMGC_DS10766,BMG_DS038887,"autism, susceptibility to, X-linked 1 | OMIM ID:300425 | MONDO:0010321 | UMLS ID:C1845540" +BMGC_DS10767,BMG_DS038888,"OMIM ID:300423 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE | UMLS ID:C1845543 | syndromic X-linked intellectual disability Hedera type | DOID:0060806 | MONDO:0010319 | OMIM ID:300556" +BMGC_DS10768,BMG_DS038889,OMIM ID:300422 | MeSH ID:C537923 | MONDO:0010318 | FG syndrome 4 | UMLS ID:C1845546 +BMGC_DS10769,BMG_DS038890,MONDO:0010316 | FG syndrome 3 | FG SYNDROME 3 | OMIM ID:300406 | UMLS ID:C1845567 +BMGC_DS10770,BMG_DS038894,retinitis pigmentosa 3 | OMIM ID:300029 | RETINITIS PIGMENTOSA 3 | OMIM ID:312610 | MONDO:0010227 | UMLS ID:C1845667 +BMGC_DS10771,BMG_DS038895,UMLS ID:C1845668 | MONDO:0020340 | bilateral perisylvian polymicrogyria | MeSH ID:C536658 | Perisylvian syndrome +BMGC_DS10772,BMG_DS038896,"OMIM ID:300387 | UMLS ID:C1845672 | intellectual disability, X-linked 63 | MONDO:0010313" +BMGC_DS10773,BMG_DS038899,MONDO:0100089 | MeSH ID:C564525 | UMLS ID:C1845837 | GATA1-Related X-Linked Cytopenia | Dyserythropoietic Anemia with Thrombocytopenia +BMGC_DS10774,BMG_DS038902,"intellectual disability, X-linked 73 | MONDO:0010307 | OMIM ID:300355 | UMLS ID:C1845860" +BMGC_DS10775,BMG_DS038903,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE | OMIM ID:300354 | UMLS ID:C1845861 | MONDO:0010306 | OMIM ID:300304 | X-linked intellectual disability, Cabezas type" +BMGC_DS10776,BMG_DS038904,"Creatine deficiency, X-linked | creatine transporter deficiency | OMIM ID:300352 | MONDO:0010305 | UMLS ID:C1845862 | MeSH ID:C535598" +BMGC_DS10777,BMG_DS038906,"intellectual disability, X-linked 53 | OMIM ID:300324 | MONDO:0010300 | UMLS ID:C1845889" +BMGC_DS10778,BMG_DS038907,"Lesch-Nyhan Syndrome, Neurologic Variant | MeSH ID:C564535 | UMLS ID:C1845892" +BMGC_DS10779,BMG_DS038908,UMLS ID:C1845902 | FG SYNDROME 2 | FG syndrome 2 | OMIM ID:300017 | MONDO:0010297 | OMIM ID:300321 +BMGC_DS10780,BMG_DS038909,"UMLS ID:C1845903 | Agammaglobulinemia, X-linked, type 2 | MONDO:0010296 | immunodeficiency 61 | DOID:0111999 | OMIM ID:300310 | MeSH ID:C538057" +BMGC_DS10781,BMG_DS038911,"MONDO:0010294 | Neutropenia, Severe Congenital, X-Linked | DOID:0112128 | MeSH ID:C564539 | OMIM ID:300299 | X-linked severe congenital neutropenia | UMLS ID:C1845987" +BMGC_DS10782,BMG_DS038912,"ectodermal dysplasia and immune deficiency | MONDO:0010293 | MeSH ID:C536181 | Ectodermal dysplasia, hypohidrotic, with immune deficiency | UMLS ID:C1846006" +BMGC_DS10783,BMG_DS038913,ectodermal dysplasia and immunodeficiency 1 | MONDO:0020740 | OMIM ID:300291 | UMLS ID:C1846008 +BMGC_DS10784,BMG_DS038914,"MONDO:0013873 | OMIM ID:614732 | Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome (disorder) | UMLS ID:C1846009 | Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome | IMAGe syndrome | SNOMEDCT ID:702384004" +BMGC_DS10785,BMG_DS038915,MONDO:0010292 | URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME | OMIM ID:300280 | Uruguay Faciocardiomusculoskeletal syndrome | OMIM ID:300163 | UMLS ID:C1846010 +BMGC_DS10786,BMG_DS038917,"MeSH ID:C564546 | goiter, multinodular 2 | MONDO:0010290 | OMIM ID:300273 | Goiter, Multinodular 2 | UMLS ID:C1846033" +BMGC_DS10787,BMG_DS038919,"MONDO:0010289 | intellectual disability, X-linked 72 | OMIM ID:300271 | UMLS ID:C1846038" +BMGC_DS10788,BMG_DS038921,"OMIM ID:300266 | hereditary spastic paraplegia 16 | UMLS ID:C1846046 | MONDO:0010287 | MeSH ID:C536643 | Spastic paraplegia 16, X-linked" +BMGC_DS10789,BMG_DS038922,Siderius X-linked mental retardation syndrome | UMLS ID:C1846055 | syndromic X-linked intellectual disability Siderius type | OMIM ID:300263 | MeSH ID:C537333 | DOID:0060812 | MONDO:0010286 +BMGC_DS10790,BMG_DS038923,OMIM ID:300262 | UMLS ID:C1846056 | MONDO:0010285 | MeSH ID:C535556 | syndromic X-linked intellectual disability Abidi type | DOID:0060818 | Abidi X-linked mental retardation syndrome +BMGC_DS10791,BMG_DS038924,UMLS ID:C1846057 | MeSH ID:C564551 | OMIM ID:300261 | Armfield syndrome | MONDO:0010284 | Armfield X-Linked Mental Retardation Syndrome +BMGC_DS10792,BMG_DS038925,MONDO:0010283 | Lubs X-linked intellectual disability syndrome | Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome | Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome | Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) | MECP2 duplication syndrome | Lubs X-linked mental retardation syndrome | OMIM ID:300260 | SNOMEDCT ID:702816000 | Proximal Xq28 duplication syndrome | DOID:0060799 | syndromic X-linked intellectual disability Lubs type | UMLS ID:C1846058 | MeSH ID:C537723 +BMGC_DS10793,BMG_DS038926,"OMIM ID:616651 | MeSH ID:C535866 | UMLS ID:C1846059 | OMIM ID:300258 | SNOMEDCT ID:773404000 | Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome | Roifman syndrome | MONDO:0014722 | Roifman syndrome (disorder)" +BMGC_DS10794,BMG_DS038927,"OMIM ID:300245 | UMLS ID:C1846128 | MeSH ID:C564553 | MONDO:0010280 | ptosis, hereditary congenital 2 | Ptosis, Hereditary Congenital 2" +BMGC_DS10795,BMG_DS038928,Terminal Osseous Dysplasia and Pigmentary Defects | MeSH ID:C564554 | DOID:0112149 | UMLS ID:C1846129 | terminal osseous dysplasia-pigmentary defects syndrome | OMIM ID:300244 | MONDO:0010279 | terminal osseous dysplasia +BMGC_DS10796,BMG_DS038929,"MeSH ID:C537450 | DOID:0060825 | Mental retardation X-linked, South African type | Christianson syndrome | UMLS ID:C1846130" +BMGC_DS10797,BMG_DS038930,X-linked dyskeratosis congenita | UMLS ID:C1846142 | Hoyeraal-Hreidarsson syndrome | OMIM ID:305000 | DOID:0070025 | HOYERAAL-HREIDARSSON SYNDROME | MONDO:0018045 +BMGC_DS10798,BMG_DS038931,"OMIM ID:300238 | UMLS ID:C1846145 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 11 | MONDO:0010277 | syndromic X-linked intellectual disability Shashi type" +BMGC_DS10799,BMG_DS038933,"MONDO:0010275 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY | UMLS ID:C1846148 | OMIM ID:300169 | OMIM ID:300232 | spondyloepimetaphyseal dysplasia, Bieganski type" +BMGC_DS10800,BMG_DS038934,OMIM ID:300228 | UMLS ID:C1846164 | testicular germ cell tumor 1 | MONDO:0010274 +BMGC_DS10801,BMG_DS038936,MeSH ID:C564561 | X-linked myotubular myopathy-abnormal genitalia syndrome | MONDO:0010271 | UMLS ID:C1846169 | OMIM ID:300219 | Myotubular Myopathy with Abnormal Genital Development +BMGC_DS10802,BMG_DS038937,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 7 | UMLS ID:C1846170 | syndromic X-linked intellectual disability 7 | MONDO:0010270 | DOID:0060808 | OMIM ID:300218" +BMGC_DS10803,BMG_DS038938,"OMIM ID:300215 | Lissencephaly, X-Linked, 2 | MeSH ID:C564563 | UMLS ID:C1846171 | X-linked lissencephaly with abnormal genitalia | MONDO:0010268" +BMGC_DS10804,BMG_DS038939,MeSH ID:C564563 | UMLS ID:C1846172 | Hydranencephaly and Abnormal Genitalia +BMGC_DS10805,BMG_DS038940,"OMIM ID:300211 | UMLS ID:C1846173 | EPISODIC MUSCLE WEAKNESS, X-LINKED | episodic muscle weakness, X-linked | MONDO:0010267" +BMGC_DS10806,BMG_DS038941,"DOID:0112024 | non-syndromic X-linked intellectual disability 58 | OMIM ID:300210 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 | UMLS ID:C1846174 | intellectual disability, X-linked 58 | MONDO:0010266 | OMIM ID:300096" +BMGC_DS10807,BMG_DS038942,Lethal variant of Simpson Golabi Behmel syndrome | Simpson Golabi Behmel syndrome type 2 (disorder) | OMIM ID:300209 | SNOMEDCT ID:723625009 | Simpson-Golabi-Behmel syndrome type 2 | UMLS ID:C1846175 | Simpson Golabi Behmel syndrome type 2 | MONDO:0010265 +BMGC_DS10808,BMG_DS038944,"Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | UMLS ID:C1846242 | Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis | AMME complex | MeSH ID:C564570 | DOID:0111860 | MONDO:0010263 | OMIM ID:300194" +BMGC_DS10809,BMG_DS038947,"UMLS ID:C1846265 | microphthalmia, syndromic 2 | syndromic microphthalmia 2 | OMIM ID:300166 | Microphthalmia, syndromic 2 | MONDO:0010261 | MeSH ID:C537465 | DOID:0111809" +BMGC_DS10810,BMG_DS038948,"arthrogryposis, congenital, lower limb, X-linked | UMLS ID:C1846273 | OMIM ID:300158 | ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED | MONDO:0010260" +BMGC_DS10811,BMG_DS038949,"MEHMO syndrome | SNOMEDCT ID:722037004 | MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome | X-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | MONDO:0010258 | OMIM ID:300987 | Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | MeSH ID:C537451 | OMIM ID:300148 | DOID:0060801 | Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | UMLS ID:C1846278 | Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder)" +BMGC_DS10812,BMG_DS038950,"UMLS ID:C1846279 | MONDO:0010257 | OMIM ID:300147 | prostate cancer, hereditary, X-linked 1" +BMGC_DS10813,BMG_DS038952,MeSH ID:C537704 | UMLS ID:C1846331 | Juvenile-onset dystonia +BMGC_DS10814,BMG_DS038953,"OMIM ID:607364 | Bartter disease type 3 | MeSH ID:C537653 | UMLS ID:C1846343 | Bartter syndrome, type 3 | MONDO:0011822" +BMGC_DS10815,BMG_DS038954,"UMLS ID:C1846344 | MeSH ID:C564578 | Bartter Syndrome, Type 3, with Hypocalciuria" +BMGC_DS10816,BMG_DS038955,"MONDO:0011821 | MeSH ID:C536132 | Meckel syndrome, type 3 | Meckel syndrome type 3 | OMIM ID:607361 | UMLS ID:C1846357" +BMGC_DS10817,BMG_DS038957,Spinocerebellar ataxia 19 | OMIM ID:607346 | MONDO:0011819 | UMLS ID:C1846367 | spinocerebellar ataxia type 19/22 | MeSH ID:C537198 +BMGC_DS10818,BMG_DS038958,UMLS ID:C1846385 | isolated focal cortical dysplasia type II | MONDO:0011818 | OMIM ID:607341 +BMGC_DS10819,BMG_DS038959,"isolated focal cortical dysplasia type IIa | UMLS ID:C1846386 | MeSH ID:C537067 | Focal Cortical Dysplasia of Taylor, Type IIa | MONDO:0017101" +BMGC_DS10820,BMG_DS038960,"UMLS ID:C1846388 | CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY | OMIM ID:607341" +BMGC_DS10821,BMG_DS038961,"Focal Cortical Dysplasia of Taylor, Type IIb | MeSH ID:C537067 | UMLS ID:C1846389" +BMGC_DS10822,BMG_DS038962,"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1 | OMIM ID:607339 | UMLS ID:C1846418 | coronary heart disease, susceptibility to, 1 | MONDO:0011817" +BMGC_DS10823,BMG_DS038963,OMIM ID:607330 | UMLS ID:C1846421 | MeSH ID:C537880 | Lathosterolosis | lathosterolosis | MONDO:0011816 | Sterol C5 desaturase deficiency | Lathosterolosis (disorder) | SNOMEDCT ID:719257008 +BMGC_DS10824,BMG_DS038965,DOID:0060247 | MONDO:0015799 | Smith-McCort dysplasia | UMLS ID:C1846431 +BMGC_DS10825,BMG_DS038966,UMLS ID:C1846439 | odontoid hypoplasia | MONDO:0013333 | OMIM ID:613628 +BMGC_DS10826,BMG_DS038968,"UMLS ID:C1846492 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 | OMIM ID:607317 | OMIM ID:608877 | DOID:0111611 | MONDO:0011811 | autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | autosomal recessive spinocerebellar ataxia 4" +BMGC_DS10827,BMG_DS038969,Horizontal gaze palsy with progressive scoliosis | HGPPS - horizontal gaze palsy with progressive scoliosis | Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze | Horizontal gaze palsy with progressive scoliosis (disorder) | UMLS ID:C1846496 | SNOMEDCT ID:702381007 +BMGC_DS10828,BMG_DS038970,OMIM ID:607304 | UMLS ID:C1846520 | cataract 27 | MONDO:0011808 +BMGC_DS10829,BMG_DS038971,OMIM ID:610283 | CONE-ROD DYSTROPHY 10 | OMIM ID:607292 | cone-rod dystrophy 10 | UMLS ID:C1846529 | MONDO:0012464 +BMGC_DS10830,BMG_DS038973,"UMLS ID:C1846534 | MONDO:0011805 | asthma-related traits, susceptibility to, 1 | OMIM ID:607277 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1" +BMGC_DS10831,BMG_DS038974,Autoimmune Lymphoproliferative Syndrome | OMIM ID:607271 | autoimmune lymphoproliferative syndrome type 2B | autoimmune lymphoproliferative syndrome | UMLS ID:C1846545 | Autoimmune Lymphoproliferative Syndrome Type 2B | MONDO:0017979;MONDO:0011804 | MeSH ID:D056735 +BMGC_DS10832,BMG_DS038975,"UMLS ID:C1846564 | hereditary spastic paraplegia 7 | OMIM ID:602783 | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | OMIM ID:607259 | MONDO:0011803" +BMGC_DS10833,BMG_DS038978,"OMIM ID:607239 | autosomal recessive nonsyndromic hearing loss 33 | UMLS ID:C1846576 | DEAFNESS, AUTOSOMAL RECESSIVE 33 | MONDO:0011799" +BMGC_DS10834,BMG_DS038979,"Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration | OMIM ID:607236 | hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | MONDO:0011798 | MeSH ID:C564603 | UMLS ID:C1846582" +BMGC_DS10835,BMG_DS038983,MONDO:0011792 | thyroid dyshormonogenesis 6 | UMLS ID:C1846632 | MeSH ID:C564608 | Thyroid Dyshormonogenesis 6 | OMIM ID:607200 | DOID:0112189 +BMGC_DS10836,BMG_DS038984,"hearing loss, autosomal recessive | MeSH ID:C564609 | MONDO:0019588 | Deafness, Autosomal Recessive | UMLS ID:C1846647 | OMIM ID:607197" +BMGC_DS10837,BMG_DS038985,Amish microcephaly | OMIM ID:607196 | Amish lethal microcephaly | Amish lethal microcephaly (disorder) | MONDO:0011790 | SNOMEDCT ID:702437000 | MeSH ID:C538247 | UMLS ID:C1846648 +BMGC_DS10838,BMG_DS038987,"UMLS ID:C1846672 | OMIM ID:607155 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I | autosomal recessive limb-girdle muscular dystrophy type 2I | MONDO:0011787" +BMGC_DS10839,BMG_DS038988,"MeSH ID:C536856 | UMLS ID:C1846685 | MONDO:0011785 | Spastic paraplegia 19, autosomal dominant | OMIM ID:607152 | hereditary spastic paraplegia 19" +BMGC_DS10840,BMG_DS038989,MONDO:0011784 | UMLS ID:C1846689 | Moyamoya disease 2 | OMIM ID:607151 | MOYAMOYA DISEASE 2 +BMGC_DS10841,BMG_DS038990,OMIM ID:607136 | SPINOCEREBELLAR ATAXIA 17 | spinocerebellar ataxia type 17 | OMIM ID:164700 | OMIM ID:600075 | MONDO:0011781 | OMIM ID:213100 | UMLS ID:C1846707 | DOID:0050967 +BMGC_DS10842,BMG_DS038991,specific language impairment 3 | OMIM ID:607134 | UMLS ID:C1846719 | SPECIFIC LANGUAGE IMPAIRMENT 3 | MONDO:0011780 +BMGC_DS10843,BMG_DS038993,"multiple epiphyseal dysplasia, Al-Gazali type | UMLS ID:C1846722 | Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | MONDO:0011778 | MeSH ID:C564621 | OMIM ID:607131" +BMGC_DS10844,BMG_DS038995,"UMLS ID:C1846758 | nasopharyngeal carcinoma, susceptibility to, 1 | OMIM ID:607107 | MONDO:0011775" +BMGC_DS10845,BMG_DS038996,"autosomal recessive nonsyndromic hearing loss 30 | MONDO:0011774 | MeSH ID:C564624 | OMIM ID:607101 | Deafness, Autosomal Recessive 30 | UMLS ID:C1846784" +BMGC_DS10846,BMG_DS038997,MeSH ID:C536296 | OMIM ID:609583 | UMLS ID:C1846790 | DOID:0110999 | MONDO:0012308 | Joubert syndrome 4 | Joubert syndrome with renal defect +BMGC_DS10847,BMG_DS038998,MONDO:0011773 | MeSH ID:C538256 | SNOMEDCT ID:764460003 | Spondyloepimetaphyseal dysplasia anauxetic type | Anauxetic dysplasia | anauxetic dysplasia | UMLS ID:C1846796 | DOID:0080942 | Spondyloepimetaphyseal dysplasia anauxetic type (disorder) | Spondyloepimetaphyseal dysplasia Menger type +BMGC_DS10848,BMG_DS039000,"neuronopathy, distal hereditary motor, autosomal recessive 3 | Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 | OMIM ID:607088 | DOID:0111211 | MONDO:0011771 | UMLS ID:C1846823 | autosomal recessive distal hereditary motor neuronopathy 3 | MeSH ID:C564626" +BMGC_DS10849,BMG_DS039001,"MONDO:0011770 | UMLS ID:C1846837 | OMIM ID:607087 | aortic aneurysm, familial thoracic 2 | Aortic Aneurysm, Familial Thoracic 2 | MeSH ID:C564627" +BMGC_DS10850,BMG_DS039003,"OMIM ID:607928 | UMLS ID:C1846839 | DEAFNESS, AUTOSOMAL RECESSIVE 31 | OMIM ID:607084 | autosomal recessive nonsyndromic hearing loss 31 | MONDO:0011767" +BMGC_DS10851,BMG_DS039004,"DOID:0070299 | multiple epiphyseal dysplasia 5 | OMIM ID:607078 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 | MONDO:0011765 | multiple epiphyseal dysplasia type 5 | UMLS ID:C1846843 | OMIM ID:602109" +BMGC_DS10852,BMG_DS039006,"DOID:0060371 | OMIM ID:607060 | PARKINSON DISEASE 8, AUTOSOMAL DOMINANT | UMLS ID:C1846862 | Parkinson's disease 8 | autosomal dominant Parkinson disease 8 | OMIM ID:609007 | MONDO:0011764" +BMGC_DS10853,BMG_DS039007,"UMLS ID:C1846896 | Deafness, Autosomal Recessive 22 | MeSH ID:C564633 | OMIM ID:607039 | autosomal recessive nonsyndromic hearing loss 22 | MONDO:0011762" +BMGC_DS10854,BMG_DS039008,"MeSH ID:C564634 | Deafness, Autosomal Dominant 21 | MONDO:0011761 | OMIM ID:607017 | autosomal dominant nonsyndromic hearing loss 21 | UMLS ID:C1846922" +BMGC_DS10855,BMG_DS039009,"Brachydactyly, Type A1, B | MONDO:0011757 | MeSH ID:C564635 | brachydactyly type A1B | OMIM ID:607004 | UMLS ID:C1846949" +BMGC_DS10856,BMG_DS039010,UMLS ID:C1846979 | OMIM ID:607215 | SENIOR-LOKEN SYNDROME 4 | MONDO:0011756 | Senior-Loken syndrome 4 | OMIM ID:606996 +BMGC_DS10857,BMG_DS039011,UMLS ID:C1846980 | MONDO:0011755 | OMIM ID:606995 | Senior-Loken Syndrome 3 | MeSH ID:C564637 | senior-loken syndrome 3 +BMGC_DS10858,BMG_DS039012,"MONDO:0011754 | MeSH ID:C564638 | UMLS ID:C1846990 | OMIM ID:606984 | familial hyperreninemic hypoaldosteronism type 2 | Hyperreninemic Hypoaldosteronism, Familial, 2" +BMGC_DS10859,BMG_DS039014,MONDO:0011752 | nephronophthisis 4 | NEPHRONOPHTHISIS 4 | UMLS ID:C1847013 | OMIM ID:607215 | OMIM ID:606966 +BMGC_DS10860,BMG_DS039015,"PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET | MONDO:0011751 | OMIM ID:606963 | COPD, severe early onset | UMLS ID:C1847014" +BMGC_DS10861,BMG_DS039016,Oculocutaneous albinism type 1B | oculocutaneous albinism type 1B | MeSH ID:C537729 | MONDO:0011749 | UMLS ID:C1847024 | OMIM ID:606952 | DOID:0070095 | oculocutaneous albinism type IB +BMGC_DS10862,BMG_DS039017,"UMLS ID:C1847089 | MONDO:0011748 | OMIM ID:606943 | Usher syndrome type 1G | USHER SYNDROME, TYPE IG | OMIM ID:607696" +BMGC_DS10863,BMG_DS039018,"MONDO:0018137 | temperature-sensitive oculocutaneous albinism type 1 | OMIM ID:606952 | ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE | UMLS ID:C1847132" +BMGC_DS10864,BMG_DS039020,"MONDO:0011746 | UMLS ID:C1847185 | OMIM ID:606895 | symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch | MeSH ID:C538148 | Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" +BMGC_DS10865,BMG_DS039022,"MeSH ID:C564648 | Vascular Malformation, Primary Intraosseous | MONDO:0011744 | OMIM ID:606893 | primary intraosseous venous malformation | UMLS ID:C1847197" +BMGC_DS10866,BMG_DS039023,UMLS ID:C1847200 | ALZHEIMER DISEASE 4 | OMIM ID:606889 | Alzheimer disease 4 | DOID:0110040 | MONDO:0011743 | Alzheimer's disease 4 +BMGC_DS10867,BMG_DS039024,SNOMEDCT ID:722377004 | UMLS ID:C1847319 | Carney Stratakis syndrome | Paraganglioma and gastric stromal sarcoma syndrome | Carney Stratakis dyad | MONDO:0011740 | Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Carney-Stratakis syndrome | OMIM ID:606864 +BMGC_DS10868,BMG_DS039025,"MONDO:0011739 | UMLS ID:C1847351 | pancreatic cancer, susceptibility to, 1 | OMIM ID:606856" +BMGC_DS10869,BMG_DS039026,"UMLS ID:C1847352 | DOID:0080922 | POLYMICROGYRIA, BILATERAL FRONTOPARIETAL | bilateral frontoparietal polymicrogyria | OMIM ID:606854 | MONDO:0011738" +BMGC_DS10870,BMG_DS039028,UMLS ID:C1847361 | Cree intellectual disability syndrome | MeSH ID:C564654 | Cree Mental Retardation Syndrome | MONDO:0011736 | OMIM ID:606851 +BMGC_DS10871,BMG_DS039029,Cardioneuromyopathy with Hyaline Masses and Nemaline Rods | OMIM ID:606842 | Cardioneuromyopathy with hyaline masses and nemaline rods | MeSH ID:C564655 | UMLS ID:C1847387 | MONDO:0011734 +BMGC_DS10872,BMG_DS039030,"UMLS ID:C1847399 | Faciomandibular myoclonus, nocturnal | MeSH ID:C536389 | MONDO:0011733 | parasomnia, sleep bruxism type | OMIM ID:606840" +BMGC_DS10873,BMG_DS039031,"MeSH ID:C564656 | familial digital arthropathy-brachydactyly | MONDO:0011732 | OMIM ID:606835 | UMLS ID:C1847406 | Digital Arthropathy-Brachydactyly, Familial" +BMGC_DS10874,BMG_DS039032,Friedreich ataxia with retained reflexes | UMLS ID:C1847416 | FRIEDREICH ATAXIA WITH RETAINED REFLEXES | OMIM ID:606829 | OMIM ID:229300 | MONDO:0800301 +BMGC_DS10875,BMG_DS039034,"UMLS ID:C1847492 | anorexia nervosa, susceptibility to, 1 | MONDO:0011727 | OMIM ID:606788" +BMGC_DS10876,BMG_DS039035,MeSH ID:C564658 | MONDO:0011726 | OMIM ID:606787 | UMLS ID:C1847493 | peripheral arterial occlusive disease 1 | Peripheral Arterial Occlusive Disease 1 +BMGC_DS10877,BMG_DS039036,MONDO:0000188 | DOID:0070560 | MeSH ID:C536830 | glucose transporter type 1 deficiency syndrome | Glut1 Deficiency Syndrome | UMLS ID:C1847501 | GLUT1 deficiency syndrome +BMGC_DS10878,BMG_DS039037,hemifacial myohyperplasia | UMLS ID:C1847521 | OMIM ID:606773 | MONDO:0011723 +BMGC_DS10879,BMG_DS039038,intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | MeSH ID:C564660 | OMIM ID:606772 | MOMES Syndrome | UMLS ID:C1847522 | MONDO:0011722 +BMGC_DS10880,BMG_DS039039,Astigmatism | UMLS ID:C1847524 | MeSH ID:D001251 | Hyperopic Astigmatism +BMGC_DS10881,BMG_DS039040,"MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET | OMIM ID:603009 | distal myopathy with anterior tibial onset | MONDO:0011721 | UMLS ID:C1847532 | OMIM ID:606768 | DOID:0111187" +BMGC_DS10882,BMG_DS039041,"UMLS ID:C1847540 | MeSH ID:C564665 | Azoospermia, Nonobstructive" +BMGC_DS10883,BMG_DS039042,"Primary ciliary dyskinesia, 2 | OMIM ID:606763 | MeSH ID:C535277 | UMLS ID:C1847554 | MONDO:0011718 | primary ciliary dyskinesia 2" +BMGC_DS10884,BMG_DS039043,"hyperinsulinism-hyperammonemia syndrome | Hyperinsulinemic hypoglycemia, familial, 6 | MONDO:0011717 | UMLS ID:C1847555 | OMIM ID:606762 | MeSH ID:C538375" +BMGC_DS10885,BMG_DS039044,OMIM ID:604124 | OMIM ID:606744 | Seckel syndrome 2 | UMLS ID:C1847572 | SECKEL SYNDROME 2 | MONDO:0011715 +BMGC_DS10886,BMG_DS039046,"multiple epiphyseal dysplasia type 4 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 | OMIM ID:606718 | MONDO:0009189 | UMLS ID:C1847593 | multiple epiphyseal dysplasia 4 | DOID:0070300 | OMIM ID:226900" +BMGC_DS10887,BMG_DS039047,Van der Woude syndrome 2 | van der Woude syndrome 2 | UMLS ID:C1847604 | MONDO:0011712 | OMIM ID:606713 | MeSH ID:C536529 +BMGC_DS10888,BMG_DS039048,SPECIFIC LANGUAGE IMPAIRMENT 2 | OMIM ID:606712 | UMLS ID:C1847605 | specific language impairment 2 | MONDO:0011711 +BMGC_DS10889,BMG_DS039049,specific language impairment 1 | UMLS ID:C1847614 | OMIM ID:606711 | MONDO:0011710 | SPECIFIC LANGUAGE IMPAIRMENT 1 +BMGC_DS10890,BMG_DS039051,"Deafness, Autosomal Dominant 36 | OMIM ID:606705 | autosomal dominant nonsyndromic hearing loss 36 | MeSH ID:C564675 | MONDO:0011708 | UMLS ID:C1847626" +BMGC_DS10891,BMG_DS039052,"Dyskinesia, Familial, with Facial Myokymia | UMLS ID:C1847627 | MeSH ID:C564676" +BMGC_DS10892,BMG_DS039053,Kufor-Rakeb syndrome | OMIM ID:606693 | MONDO:0011706 | OMIM ID:610513 | KUFOR-RAKEB SYNDROME | DOID:0060556 | UMLS ID:C1847640 +BMGC_DS10893,BMG_DS039055,MONDO:0011703 | OMIM ID:606688 | SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES | UMLS ID:C1847650 | spongiform encephalopathy with neuropsychiatric features | OMIM ID:176640 +BMGC_DS10894,BMG_DS039056,"MONDO:0011702 | dilated cardiomyopathy 1L | CARDIOMYOPATHY, DILATED, 1L | UMLS ID:C1847667 | OMIM ID:601411 | OMIM ID:606685" +BMGC_DS10895,BMG_DS039059,"MONDO:0009789 | nonarteritic anterior ischemic optic neuropathy, susceptibility to | OMIM ID:258660 | UMLS ID:C1847711" +BMGC_DS10896,BMG_DS039061,UMLS ID:C1847720 | Hypermethioninaemia due to deficiency of glycine N-methyltransferase | OMIM ID:606664 | Hypermethioninaemia due to GNMT (glycine N-methyltransferase) deficiency | Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder) | Hypermethioninemia due to GNMT (glycine N-methyltransferase) deficiency | Glycine N-methyltransferase deficiency | glycine N-methyltransferase deficiency | Hypermethioninemia due to deficiency of glycine N-methyltransferase | MONDO:0011698 | SNOMEDCT ID:763720007 +BMGC_DS10897,BMG_DS039063,"melanoma, uveal, susceptibility to, 2 | UMLS ID:C1847723 | MONDO:0011696 | OMIM ID:606661" +BMGC_DS10898,BMG_DS039064,"OMIM ID:606660 | MONDO:0011695 | melanoma, uveal, susceptibility to, 1 | UMLS ID:C1847724" +BMGC_DS10899,BMG_DS039065,DOID:0050965 | OMIM ID:606658 | spinocerebellar ataxia type 15/16 | MONDO:0011694 | UMLS ID:C1847725 | SPINOCEREBELLAR ATAXIA 15 | spinocerebellar ataxia type 15 | OMIM ID:147265 +BMGC_DS10900,BMG_DS039066,"UMLS ID:C1847730 | glaucoma, normal tension, susceptibility to | MONDO:0011693 | OMIM ID:606657" +BMGC_DS10901,BMG_DS039068,OMIM ID:606640 | UMLS ID:C1847735 | amyotrophic lateral sclerosis type 3 | MONDO:0011691 | MeSH ID:C564688 | Amyotrophic Lateral Sclerosis 3 +BMGC_DS10902,BMG_DS039070,"muscular dystrophy-dystroglycanopathy type B5 | MUSCULAR DYSTROPHY, CONGENITAL, 1C | MONDO:0011688 | OMIM ID:606612 | UMLS ID:C1847759" +BMGC_DS10903,BMG_DS039071,MeSH ID:D014849 | Waardenburg syndrome | OMIM ID:193500 | UMLS ID:C1847800 | Waardenburg Syndrome Type 1 | Waardenburg Syndrome | MONDO:0008670 | Waardenburg syndrome type 1 | DOID:0110948;DOID:9258 +BMGC_DS10904,BMG_DS039072,"Charcot-Marie-Tooth disease axonal type 2F | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F | OMIM ID:606595 | MONDO:0011687 | OMIM ID:602195 | UMLS ID:C1847823" +BMGC_DS10905,BMG_DS039073,MeSH ID:C564694 | MONDO:0011686 | DNA ligase IV deficiency | OMIM ID:606593 | LIG4 Syndrome | UMLS ID:C1847827 +BMGC_DS10906,BMG_DS039074,"OMIM ID:606581 | MONDO:0011685 | polysubstance abuse, susceptibility to | UMLS ID:C1847831" +BMGC_DS10907,BMG_DS039075,vitiligo-associated multiple autoimmune disease susceptibility 1 | UMLS ID:C1847835 | OMIM ID:606579 | MONDO:0011684 +BMGC_DS10908,BMG_DS039076,"Oculocutaneous Albinism, Type IV | OMIM ID:606574 | oculocutaneous albinism type 4 | MONDO:0011683 | MeSH ID:C564696 | UMLS ID:C1847836" +BMGC_DS10909,BMG_DS039077,"UMLS ID:C1847839 | MeSH ID:C564697 | MONDO:0011682 | OMIM ID:606554 | episodic ataxia type 3 | Episodic Ataxia, Type 3" +BMGC_DS10910,BMG_DS039078,"DOID:0050992 | UMLS ID:C1847843 | episodic ataxia type 4 | MONDO:0011681 | OMIM ID:606552 | EPISODIC ATAXIA, TYPE 4" +BMGC_DS10911,BMG_DS039080,UMLS ID:C1847866 | Homozygous 11p15-p14 Deletion Syndrome | MeSH ID:C564701 | MONDO:0011678 | homozygous 11P15-p14 deletion syndrome | OMIM ID:606528 +BMGC_DS10912,BMG_DS039082,PHACE syndrome | UMLS ID:C1847874 | PHACE association | MeSH ID:C537892 | MONDO:0011676 | OMIM ID:606519 +BMGC_DS10913,BMG_DS039083,"Charcot-Marie-Tooth Disease, Dominant Intermediate A | Charcot-Marie-Tooth disease, dominant intermediate A | UMLS ID:C1847896 | DOID:0110202 | MONDO:0957273 | OMIM ID:620378 | MeSH ID:C564702 | Charcot-Marie-Tooth disease dominant intermediate A" +BMGC_DS10914,BMG_DS039084,"MONDO:0011674 | OMIM ID:606482 | UMLS ID:C1847902 | Charcot-Marie-Tooth Disease, Dominant Intermediate B | DOID:0110197 | MeSH ID:C564703 | Charcot-Marie-Tooth disease dominant intermediate B" +BMGC_DS10915,BMG_DS039085,"Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia | UMLS ID:C1847903 | MeSH ID:C564704" +BMGC_DS10916,BMG_DS039086,SNOMEDCT ID:1156768008 | Ovarioleucodystrophy | Ovarioleukodystrophy (disorder) | UMLS ID:C1847967 | MeSH ID:C565836 | Ovarioleukodystrophy +BMGC_DS10917,BMG_DS039087,"MONDO:0011673 | UMLS ID:C1847972 | autosomal dominant nonsyndromic hearing loss 30 | MeSH ID:C564706 | OMIM ID:606451 | Deafness, Autosomal Dominant 30" +BMGC_DS10918,BMG_DS039088,OMIM ID:606445 | UMLS ID:C1847973 | MONDO:0011672 | persistent polyclonal B-cell lymphocytosis | MeSH ID:C564707 | Persistent Polyclonal B-Cell Lymphocytosis +BMGC_DS10919,BMG_DS039089,HUNTINGTON DISEASE-LIKE 2 | UMLS ID:C1847987 | OMIM ID:606438 | Huntington disease-like 2 | OMIM ID:605268 | MONDO:0011671 +BMGC_DS10920,BMG_DS039090,MONDO:0011670 | Ehlers-Danlos syndrome due to tenascin-X deficiency | OMIM ID:606408 | UMLS ID:C1848029 | MeSH ID:C536193 | Ehlers-Danlos syndrome caused by tenascin-X deficiency +BMGC_DS10921,BMG_DS039091,hypotonia-cystinuria syndrome | MONDO:0011669 | MeSH ID:C564710 | UMLS ID:C1848030 | DOID:0060858 | Hypotonia-Cystinuria Syndrome | OMIM ID:606407 +BMGC_DS10922,BMG_DS039093,"MONDO:0010253 | UMLS ID:C1848066 | OMIM ID:300125 | migraine, familial typical, susceptibility to, 2" +BMGC_DS10923,BMG_DS039094,"Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency | UMLS ID:C1848068 | MeSH ID:C564712 | MONDO:0019032 | X-linked intellectual disability with isolated growth hormone deficiency" +BMGC_DS10924,BMG_DS039095,Lissencephaly and agenesis of corpus callosum | MeSH ID:C531731 | UMLS ID:C1848070 +BMGC_DS10925,BMG_DS039096,"MONDO:0010251 | UMLS ID:C1848087 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 | intellectual disability, X-linked 50 | non-syndromic X-linked intellectual disability 50 | OMIM ID:300115 | OMIM ID:313440 | DOID:0112029" +BMGC_DS10926,BMG_DS039097,"X-linked spondyloepimetaphyseal dysplasia | MeSH ID:C564714 | OMIM ID:300106 | DOID:0112150 | Spondyloepimetaphyseal Dysplasia, X-Linked | UMLS ID:C1848097 | MONDO:0010248" +BMGC_DS10927,BMG_DS039098,"developmental and epileptic encephalopathy, 9 | UMLS ID:C1848137 | OMIM ID:300460 | developmental and epileptic encephalopathy 9 | DOID:0060848 | OMIM ID:300088 | MONDO:0010246 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9" +BMGC_DS10928,BMG_DS039099,"UMLS ID:C1848138 | OMIM ID:300087 | MONDO:0026404 | X Inactivation, Familial Skewed, 1 | X inactivation, familial skewed, 1 | MeSH ID:C564716" +BMGC_DS10929,BMG_DS039100,"CONE-ROD DYSTROPHY, X-LINKED, 2 | UMLS ID:C1848139 | X-linked cone-rod dystrophy 2 | OMIM ID:300085 | MONDO:0010245 | DOID:0111006" +BMGC_DS10930,BMG_DS039101,"UMLS ID:C1848140 | COGNITIVE FUNCTION 1, SOCIAL | OMIM ID:300082 | CGF1 | MONDO:0010244" +BMGC_DS10931,BMG_DS039102,UMLS ID:C1848144 | X-linked immunoneurologic disorder | X-linked immunoneurologic disorder (disorder) | MONDO:0010243 | OMIM ID:300076 | Woods Black Norbury syndrome | MeSH ID:C536743 | SNOMEDCT ID:719827008 +BMGC_DS10932,BMG_DS039103,"Fetal akinesia syndrome, X-linked | fetal akinesia syndrome, X-linked | MONDO:0010242 | UMLS ID:C1848171 | MeSH ID:C537921 | OMIM ID:300073" +BMGC_DS10933,BMG_DS039104,"congenital stationary night blindness 2A | DOID:0110871 | OMIM ID:300071 | OMIM ID:300110 | UMLS ID:C1848172 | MONDO:0010241 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A" +BMGC_DS10934,BMG_DS039106,X-Linked Lissencephaly | chromosome 17p13.1 deletion syndrome | MeSH ID:D054221 | Classical Lissencephalies and Subcortical Band Heterotopias | UMLS ID:C1848199 | DOID:0060402 +BMGC_DS10935,BMG_DS039107,"DOID:0112239 | OMIM ID:300067 | X-linked lissencephaly 1 | SUBCORTICAL BAND HETEROTOPIA, X-LINKED | UMLS ID:C1848200" +BMGC_DS10936,BMG_DS039108,chromosome 17p13.1 deletion syndrome | MeSH ID:D054221 | Classical Lissencephalies and Subcortical Band Heterotopias | MONDO:0020491 | UMLS ID:C1848201 | subcortical band heterotopia | Subcortical Band Heterotopia | DOID:0060402;DOID:0111169 +BMGC_DS10937,BMG_DS039109,"Deafness, X-Linked 4 | MONDO:0010238 | UMLS ID:C1848204 | OMIM ID:300066 | MeSH ID:C564723 | hearing loss, X-linked 4" +BMGC_DS10938,BMG_DS039111,"MONDO:0010233 | Periventricular Nodular Heterotopia | DOID:0050454 | OMIM ID:300049 | periventricular nodular heterotopia | MeSH ID:D054091 | Periventricular Heterotopia, X-Linked | UMLS ID:C1848213 | heterotopia, periventricular, X-linked dominant" +BMGC_DS10939,BMG_DS039113,"46,XY sex reversal 2 | MONDO:0010226 | OMIM ID:300018 | UMLS ID:C1848296 | DOID:0111777 | DOSAGE-SENSITIVE SEX REVERSAL" +BMGC_DS10940,BMG_DS039114,Dent disease 1 | DOID:0081453 | MONDO:0010225 | Dent disease type 1 | UMLS ID:C1848336 | MeSH ID:C538212 | OMIM ID:300009 +BMGC_DS10941,BMG_DS039116,UMLS ID:C1848392 | CHIME syndrome | DOID:0112152 | MeSH ID:C536729 | MONDO:0010221 | OMIM ID:280000 | Zunich neuroectodermal syndrome +BMGC_DS10942,BMG_DS039118,"Xeroderma pigmentosum, variant type | MeSH ID:C536766 | UMLS ID:C1848410 | MONDO:0010214 | xeroderma pigmentosum variant type | DOID:0110847 | OMIM ID:278750" +BMGC_DS10943,BMG_DS039119,"UMLS ID:C1848411 | xeroderma pigmentosum group E | OMIM ID:278740 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | MONDO:0010213" +BMGC_DS10944,BMG_DS039122,"UMLS ID:C1848435 | OMIM ID:278150 | wooly hair, autosomal recessive 1, with or without hypotrichosis | WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS | MONDO:0800312 | DOID:0110705 | OMIM ID:609239 | hypotrichosis 8" +BMGC_DS10945,BMG_DS039123,"Mental retardation Wolff type | intellectual disability, Wolff type | MeSH ID:C537448 | UMLS ID:C1848439 | MONDO:0010203 | OMIM ID:277990" +BMGC_DS10946,BMG_DS039125,WHITE FORELOCK WITH MALFORMATIONS | white forelock with malformations | MONDO:0010199 | OMIM ID:277740 | UMLS ID:C1848463 +BMGC_DS10947,BMG_DS039126,"MeSH ID:C536699 | UMLS ID:C1848470 | Whistling face syndrome, recessive form | MONDO:0010197 | whistling face syndrome, recessive form | OMIM ID:277720" +BMGC_DS10948,BMG_DS039128,"MONDO:0008490 | Pierre Robin syndrome with fetal chondrodysplasia | Heterozygous otospondylomegaepiphyseal dysplasia | OMIM ID:184840 | OMIM ID:277610 | Weissenbacher-Zweymuller syndrome (disorder) | SNOMEDCT ID:699313003 | otospondylomegaepiphyseal dysplasia, autosomal dominant | MeSH ID:C535776 | Heterozygous OSMED (otospondylomegaepiphyseal dysplasia) | UMLS ID:C1848488 | Weissenbacher-Zweymuller syndrome" +BMGC_DS10949,BMG_DS039129,"WAARDENBURG SYNDROME, TYPE 4A | OMIM ID:277580 | MONDO:0010192 | OMIM ID:131244 | UMLS ID:C1848519 | Waardenburg syndrome type 4A | DOID:0110953" +BMGC_DS10950,BMG_DS039131,MONDO:0010190 | OMIM ID:277470 | MeSH ID:C564738 | pontocerebellar hypoplasia type 2A | Pontocerebellar Hypoplasia Type 2A | UMLS ID:C1848526 | DOID:0060267 +BMGC_DS10951,BMG_DS039134,familial isolated deficiency of vitamin E | DOID:0090028 | MONDO:0010188 | Friedreich ataxia phenotype with selective vitamin E deficiency | UMLS ID:C1848533 | Friedreich-like ataxia | SNOMEDCT ID:702442008 | Ataxia with vitamin E deficiency | OMIM ID:277460 | Ataxia with isolated vitamin E deficiency | MeSH ID:C535393 | Ataxia with vitamin E deficiency (disorder) | Familial isolated vitamin E deficiency +BMGC_DS10952,BMG_DS039135,"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | OMIM ID:137167 | MONDO:0010187 | vitamin K-dependent clotting factors, combined deficiency of, type 1 | DOID:0112173 | OMIM ID:277450 | combined deficiency of vitamin K-dependent clotting factors 1 | UMLS ID:C1848534" +BMGC_DS10953,BMG_DS039136,"Methylmalonic Aciduria and Homocystinuria, CblD Type | OMIM ID:277410 | MONDO:0010185 | MeSH ID:C564743 | UMLS ID:C1848552 | methylmalonic aciduria and homocystinuria type cblD" +BMGC_DS10954,BMG_DS039137,"Homocystinuria, CblD Type, Variant 1 | MeSH ID:C564743 | UMLS ID:C1848553" +BMGC_DS10955,BMG_DS039138,"UMLS ID:C1848554 | MONDO:0017685 | vitamin B12-responsive methylmalonic acidemia, type cblDv2 | MeSH ID:C564743 | Methylmalonic Aciduria, CblD Type, Variant 2" +BMGC_DS10956,BMG_DS039139,CblC methylmalonic acidemia and homocystinuria | Cobalamin locus C variant | UMLS ID:C1848561 | Cobalamin C disease (disorder) | SNOMEDCT ID:74653006 | OMIM ID:277400 | CblC methylmalonic acidaemia and homocystinuria | Cobalamin C disease | methylmalonic aciduria and homocystinuria type cblC | CblC - Cobalamin locus C | MONDO:0010184 +BMGC_DS10957,BMG_DS039140,"MeSH ID:C564747 | methylmalonic aciduria and homocystinuria type cblF | Methylmalonic Aciduria and Homocystinuria, CblF Type | UMLS ID:C1848578 | MONDO:0010183 | OMIM ID:277380" +BMGC_DS10958,BMG_DS039141,mitochondrial DNA depletion syndrome 8b | Visceral myopathy familial external ophthalmoplegia | UMLS ID:C1848586 | MONDO:0010181 | DOID:0080127;DOID:0070331;DOID:0080119 | oculogastrointestinal muscular dystrophy | MeSH ID:C536350 | OMIM ID:277320 | mitochondrial DNA depletion syndrome 1 | mitochondrial DNA depletion syndrome 8a +BMGC_DS10959,BMG_DS039142,MeSH ID:C535682 | OMIM ID:277200 | MONDO:0010179 | UMLS ID:C1848587 | Isolated hypoplasia of the right ventricle | isolated right ventricular hypoplasia +BMGC_DS10960,BMG_DS039143,Vascular Hyalinosis | vascular hyalinosis | MONDO:0010177 | UMLS ID:C1848590 | OMIM ID:277175 | MeSH ID:C564750 +BMGC_DS10961,BMG_DS039144,Van Bogaert-Hozay syndrome | MeSH ID:C536526 | van Bogaert-Hozay syndrome | UMLS ID:C1848598 | OMIM ID:277150 | MONDO:0010175 +BMGC_DS10962,BMG_DS039145,VACTERL Association With Hydrocephalus | MONDO:0010172 | MeSH ID:C564751 | VACTERL with hydrocephalus | UMLS ID:C1848599 | OMIM ID:276950 +BMGC_DS10963,BMG_DS039147,"UMLS ID:C1848604 | OMIM ID:605242 | USHER SYNDROME, TYPE IC | OMIM ID:276904 | MONDO:0010171 | Usher syndrome type 1C" +BMGC_DS10964,BMG_DS039148,"MONDO:0010169 | UMLS ID:C1848634 | USHER SYNDROME, TYPE IIA | Usher syndrome type 2A | OMIM ID:608400 | OMIM ID:276901" +BMGC_DS10965,BMG_DS039151,OMIM ID:276822 | ulnar agenesis and endocardial fibroelastosis | MONDO:0010166 | MeSH ID:C564756 | Ulnar Agenesis and Endocardial Fibroelastosis | UMLS ID:C1848649 +BMGC_DS10966,BMG_DS039152,OMIM ID:276821 | UMLS ID:C1848650 | MONDO:0010165 | Ulnar Hypoplasia with Mental Retardation | ulna hypoplasia-intellectual disability syndrome | MeSH ID:C564757 +BMGC_DS10967,BMG_DS039153,"MeSH ID:C535612 | phocomelia, Schinzel type | OMIM ID:276820 | Al Awadi syndrome | UMLS ID:C1848651 | MONDO:0010164" +BMGC_DS10968,BMG_DS039156,OMIM ID:276200 | T-substance anomaly | UMLS ID:C1848724 | MONDO:0010158 +BMGC_DS10969,BMG_DS039157,OMIM ID:MTHU000679 | Distal amyotrophy | UMLS ID:C1848736 +BMGC_DS10970,BMG_DS039159,MONDO:0010152 | DOID:0111271 | UMLS ID:C1848745 | OMIM ID:275400 | Oliver-McFarlane syndrome | trichomegaly-retina pigmentary degeneration-dwarfism syndrome | MeSH ID:C536554 +BMGC_DS10971,BMG_DS039160,"tricarboxylic acid cycle, defect of | Tricarboxylic Acid Cycle, Defect of | OMIM ID:275370 | MONDO:0010151 | UMLS ID:C1848746 | MeSH ID:C564762" +BMGC_DS10972,BMG_DS039161,"TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF | UMLS ID:C1848756 | MONDO:0010147 | OMIM ID:275250 | tongue, pigmented fungiform papillae of" +BMGC_DS10973,BMG_DS039164,"OMIM ID:275000 | UMLS ID:C1848795 | Graves disease, susceptibility to, 1 | MONDO:0100489" +BMGC_DS10974,BMG_DS039165,thyroid dyshormonogenesis 1 | MeSH ID:C564766 | OMIM ID:274400 | DOID:0112185 | UMLS ID:C1848805 | MONDO:0020716 | Thyroid Dyshormonogenesis 1 +BMGC_DS10975,BMG_DS039166,Thymic-Renal-Anal-Lung dysplasia | MONDO:0010129 | UMLS ID:C1848812 | OMIM ID:274265 | thymic-renal-anal-lung dysplasia | MeSH ID:C536907 +BMGC_DS10976,BMG_DS039167,OMIM ID:274240 | Thyrocerebral-retinal syndrome | thyrocerebrorenal syndrome | MeSH ID:C536908 | MONDO:0010128 | UMLS ID:C1848813 +BMGC_DS10977,BMG_DS039168,"OMIM ID:274230 | thymoma, familial | UMLS ID:C1848814 | MONDO:0010127" +BMGC_DS10978,BMG_DS039170,"MONDO:0010125 | OMIM ID:274205 | UMLS ID:C1848816 | Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness | MeSH ID:C564769 | upper limb defect-eye and ear abnormalities syndrome" +BMGC_DS10979,BMG_DS039171,"thumb, distal hyperextensibility of | UMLS ID:C1848817 | OMIM ID:274200 | MONDO:0010124" +BMGC_DS10980,BMG_DS039172,"obsolete absent thumb-short stature-immunodeficiency syndrome | MONDO:0010123 | Thumb Agenesis, Short Stature, And Immunodeficiency | MeSH ID:C564770 | UMLS ID:C1848818 | OMIM ID:274190" +BMGC_DS10981,BMG_DS039174,MONDO:0010118 | UMLS ID:C1848861 | OMIM ID:273770 | inherited threoninemia +BMGC_DS10982,BMG_DS039175,3-M syndrome | MeSH ID:C535314 | Miller-McKusick-Malvaux-Syndrome (3M Syndrome) | MONDO:0007477 | UMLS ID:C1848862 | DOID:0060241 +BMGC_DS10983,BMG_DS039176,MeSH ID:C564773 | thoracomelic dysplasia | Thoracomelic Dysplasia | UMLS ID:C1848863 | OMIM ID:273740 | MONDO:0010116 +BMGC_DS10984,BMG_DS039178,"UMLS ID:C1848865 | Thanatophoric dysplasia Glasgow variant | MeSH ID:C536506 | OMIM ID:273680 | thanatophoric dysplasia, Glasgow variant | MONDO:0010114" +BMGC_DS10985,BMG_DS039179,"MONDO:0010106 | testes, rudimentary | OMIM ID:273150 | UMLS ID:C1848901" +BMGC_DS10986,BMG_DS039180,"MONDO:0010105 | UMLS ID:C1848902 | OMIM ID:273120 | teratoma, pineal" +BMGC_DS10987,BMG_DS039183,OMIM ID:272950 | Teebi Shaltout syndrome | SNOMEDCT ID:771265006 | MONDO:0010101 | Teebi-Shaltout syndrome | UMLS ID:C1848912 | MeSH ID:C536950 | Teebi Shaltout syndrome (disorder) +BMGC_DS10988,BMG_DS039184,"Tay-Sachs Disease, Juvenile | UMLS ID:C1848913 | MeSH ID:C564782" +BMGC_DS10989,BMG_DS039185,"Hexosaminidase A Deficiency, Adult Type | Tay-Sachs disease, B variant, adult form | MeSH ID:C564783 | UMLS ID:C1848914 | MONDO:0017726" +BMGC_DS10990,BMG_DS039187,"UMLS ID:C1848916 | MONDO:0017728 | Tay-Sachs Disease, Variant B1 | Tay-Sachs disease, B1 variant | MeSH ID:C564785" +BMGC_DS10991,BMG_DS039189,UMLS ID:C1848922 | MeSH ID:D013661 | Tay-Sachs Disease | Hexosaminidase alpha-Subunit Deficiency (Variant B) +BMGC_DS10992,BMG_DS039190,OMIM ID:272650 | Tatsumi Factor Deficiency | Tatsumi factor deficiency | MONDO:0010097 | UMLS ID:C1848931 | MeSH ID:C564787 +BMGC_DS10993,BMG_DS039192,spondylocarpotarsal synostosis syndrome | MONDO:0010094 | SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | UMLS ID:C1848934 | OMIM ID:603381 | OMIM ID:272460 +BMGC_DS10994,BMG_DS039193,MONDO:0010091 | OMIM ID:272430 | OMIM ID:601378 | Cold-induced sweating syndrome 1 | UMLS ID:C1848947 +BMGC_DS10995,BMG_DS039194,MONDO:0000476 | UMLS ID:C1848954 | generalized dystonia +BMGC_DS10996,BMG_DS039195,"Sucrosuria, Hiatus Hernia and Mental Retardation | OMIM ID:272000 | MeSH ID:C564792 | UMLS ID:C1848963 | sucrosuria, hiatus hernia and intellectual disability | MONDO:0010084" +BMGC_DS10997,BMG_DS039197,"spondylometaepiphyseal dysplasia, short limb-hand type | OMIM ID:191311 | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE | spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | OMIM ID:271665 | DOID:0112196 | MONDO:0010077 | UMLS ID:C1849011" +BMGC_DS10998,BMG_DS039198,"Spondyloepiphyseal dysplasia tarda, Toledo type | MONDO:0010074 | UMLS ID:C1849048 | MeSH ID:C535787 | brachyolmia type 1, toledo type | OMIM ID:271630" +BMGC_DS10999,BMG_DS039199,"UMLS ID:C1849053 | OMIM ID:271620 | MONDO:0010073 | spondyloepiphyseal dysplasia tarda with intellectual disability | DOID:0112292 | spondyloepiphyseal dysplasia tarda, Kohn type | MeSH ID:C564796 | Spondyloepiphyseal Dysplasia Tarda with Mental Retardation" +BMGC_DS11000,BMG_DS039200,"UMLS ID:C1849054 | OMIM ID:271600 | MONDO:0010072 | Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive | MeSH ID:C564797 | spondyloepiphyseal dysplasia tarda, autosomal recessive" +BMGC_DS11001,BMG_DS039201,"MONDO:0010070 | Brachyolmia, recessive Hobaek type | brachyolmia type 1, Hobaek type | UMLS ID:C1849055 | MeSH ID:C537099 | OMIM ID:271530" +BMGC_DS11002,BMG_DS039202,MONDO:0010069 | MeSH ID:C564799 | UMLS ID:C1849069 | Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies | OMIM ID:271520 | spondylocostal dysostosis-anal and genitourinary malformations syndrome +BMGC_DS11003,BMG_DS039203,spastic ataxia-corneal dystrophy syndrome | UMLS ID:C1849085 | MONDO:0010064 | MeSH ID:C536989 | OMIM ID:271320 | Mousa Al din Al Nassar syndrome +BMGC_DS11004,BMG_DS039204,UMLS ID:C1849087 | Spinocerebellar degeneration and corneal dystrophy syndrome (disorder) | MeSH ID:C535472 | Corneal cerebellar syndrome | MONDO:0010063 | OMIM ID:271310 | SNOMEDCT ID:720750004 | Der Kaloustian Jarudi Khoury syndrome | Spinocerebellar degeneration and corneal dystrophy syndrome | corneal-cerebellar syndrome +BMGC_DS11005,BMG_DS039206,"OMIM ID:271250 | MONDO:0010061 | DOID:0111612 | autosomal recessive cerebellar ataxia-blindness-deafness syndrome | autosomal recessive spinocerebellar ataxia 3 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 | UMLS ID:C1849094" +BMGC_DS11006,BMG_DS039207,"Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome | UMLS ID:C1849096 | MONDO:0010060 | mitochondrial DNA depletion syndrome 7 | MeSH ID:C535523 | DOID:0080126 | OMIM ID:271245 | Ohaha syndrome | Infantile onset spinocerebellar ataxia (disorder) | mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | Infantile onset spinocerebellar ataxia | SNOMEDCT ID:724227000" +BMGC_DS11007,BMG_DS039209,"OMIM ID:271200 | spinal muscular atrophy, Ryukyuan type | UMLS ID:C1849102 | MONDO:0010057 | MeSH ID:C536881 | Spinal muscular atrophy, Ryukyuan type" +BMGC_DS11008,BMG_DS039211,UMLS ID:C1849109 | OMIM ID:271109 | Spinal Muscular Atrophy with Mental Retardation | MONDO:0010054 | MeSH ID:C564807 | spinal muscular atrophy with intellectual disability +BMGC_DS11009,BMG_DS039212,"Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation | OMIM ID:270950 | MeSH ID:C564808 | UMLS ID:C1849112 | MONDO:0010051 | spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome" +BMGC_DS11010,BMG_DS039213,"Spastic Paresis, Glaucoma, and Mental Retardation | spastic paraplegia-glaucoma-intellectual disability syndrome | OMIM ID:270850 | MONDO:0010049 | MeSH ID:C564809 | UMLS ID:C1849113" +BMGC_DS11011,BMG_DS039215,"hereditary spastic paraplegia 5A | MONDO:0010047 | OMIM ID:270800 | MeSH ID:C564811 | Spastic Paraplegia 5a, Autosomal Recessive | UMLS ID:C1849115" +BMGC_DS11012,BMG_DS039216,"MONDO:0010044 | hereditary spastic paraplegia 15 | Spastic paraplegia 15, autosomal recessive | UMLS ID:C1849128 | OMIM ID:270700 | MeSH ID:C536642" +BMGC_DS11013,BMG_DS039217,UMLS ID:C1849139 | Spastic diplegia infantile type | spastic diplegia and intellectual disability | MeSH ID:C537481 | MONDO:0010042 | OMIM ID:270600 +BMGC_DS11014,BMG_DS039218,"OMIM ID:604490 | UMLS ID:C1849140 | MONDO:0010041 | Charlevoix-Saguenay spastic ataxia | OMIM ID:270550 | SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE" +BMGC_DS11015,BMG_DS039219,MONDO:0017845 | Spastic Ataxia | spastic ataxia | MeSH ID:C564815 | DOID:0050952 | UMLS ID:C1849156 +BMGC_DS11016,BMG_DS039220,"MONDO:0010038 | MeSH ID:C564816 | Insulin-Like Growth Factor I, Resistance To | growth delay due to insulin-like growth factor I resistance | UMLS ID:C1849157 | OMIM ID:270450" +BMGC_DS11017,BMG_DS039222,OMIM ID:270425 | MONDO:0010037 | UMLS ID:C1849169 | sodium-potassium-ATPase activity of red cell +BMGC_DS11018,BMG_DS039223,DOID:0060283 | UMLS ID:C1849193 | peeling skin syndrome | peeling skin syndrome 1 | OMIM ID:270300 | MONDO:0024548 +BMGC_DS11019,BMG_DS039226,"DOID:0111943 | immunodeficiency 48 | MeSH ID:C537590 | UMLS ID:C1849236 | Severe combined immunodeficiency, atypical" +BMGC_DS11020,BMG_DS039229,second metatarsal-metacarpal syndrome | Second Metatarsal-Metacarpal Syndrome | UMLS ID:C1849259 | OMIM ID:269630 | MONDO:0010018 | MeSH ID:C564824 +BMGC_DS11021,BMG_DS039230,MeSH ID:C535865 | Rodrigues blindness | UMLS ID:C1849332 | OMIM ID:268320 | ectodermal dysplasia-blindness syndrome | MONDO:0010001 +BMGC_DS11022,BMG_DS039231,"MONDO:0010000 | MeSH ID:C564829 | rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | UMLS ID:C1849333 | Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction | OMIM ID:268315" +BMGC_DS11023,BMG_DS039232,"Robinow syndrome, autosomal recessive | MeSH ID:C535863 | UMLS ID:C1849334" +BMGC_DS11024,BMG_DS039233,"OMIM ID:268305 | MeSH ID:C535677 | UMLS ID:C1849348 | Richieri Costa Pereira syndrome | Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome | SNOMEDCT ID:723998001 | MONDO:0009998 | Richieri Costa-Pereira syndrome | Robin sequence with cleft mandible and limb anomalies syndrome" +BMGC_DS11025,BMG_DS039234,"Rhizomelic syndrome | MONDO:0009996 | MeSH ID:C537611 | rhizomelic syndrome, Urbach type | OMIM ID:268250 | UMLS ID:C1849382" +BMGC_DS11026,BMG_DS039235,"myoglobinuria, acute recurrent, autosomal recessive | OMIM ID:268200 | UMLS ID:C1849386 | MeSH ID:C564832 | Myoglobinuria, Acute Recurrent, Autosomal Recessive | MONDO:0009992" +BMGC_DS11027,BMG_DS039236,"MeSH ID:C564833 | Rh-Null, Regulator Type | UMLS ID:C1849387" +BMGC_DS11028,BMG_DS039237,UMLS ID:C1849394 | MeSH ID:C564835 | OMIM ID:268100 | enhanced S-cone syndrome | DOID:0090059 | Enhanced S-Cone Syndrome | MONDO:0100288 +BMGC_DS11029,BMG_DS039239,"UMLS ID:C1849398 | MONDO:0009987 | Retinopathy, Pericentral Pigmentary, Autosomal Recessive | OMIM ID:268060 | MeSH ID:C564838 | autosomal recessive pericentral pigmentary retinopathy" +BMGC_DS11030,BMG_DS039241,"MONDO:0009984 | OMIM ID:268025 | late-adult onset retinitis pigmentosa | Retinitis Pigmentosa, Late-Adult Onset | MeSH ID:C564840 | UMLS ID:C1849400" +BMGC_DS11031,BMG_DS039242,"MeSH ID:C564841 | retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome | MONDO:0009983 | UMLS ID:C1849401 | Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism | OMIM ID:268020" +BMGC_DS11032,BMG_DS039245,UMLS ID:C1849409 | MONDO:0800166 | Retinal detachment and occipital encephalocoele | Retinal detachment and occipital encephalocele | Retinal detachment and occipital encephalocele (disorder) | SNOMEDCT ID:703542000 | MeSH ID:C537209 | Knobloch syndrome +BMGC_DS11033,BMG_DS039246,MeSH ID:C564847 | Retinal Degeneration and Epilepsy | OMIM ID:267740 | MONDO:0009976 | UMLS ID:C1849416 | retinal degeneration and epilepsy +BMGC_DS11034,BMG_DS039248,"Renal, Genital, and Middle Ear Anomalies | UMLS ID:C1849432 | MONDO:0009969 | MeSH ID:C564849 | OMIM ID:267400 | renal-genital-middle ear anomalies" +BMGC_DS11035,BMG_DS039249,"UMLS ID:C1849435 | OMIM ID:267200 | MONDO:0009967 | MeSH ID:C537759 | Renal tubular acidosis, distal, type 3 | renal tubular acidosis 3" +BMGC_DS11036,BMG_DS039250,UMLS ID:C1849437 | Mainzer-Saldino Disease | OMIM ID:266920 | MONDO:0009964 | MeSH ID:C535463 | short-rib thoracic dysplasia 9 with or without polydactyly +BMGC_DS11037,BMG_DS039253,UMLS ID:C1849450 | MONDO:0009957 | MeSH ID:C564854 | Reese Retinal Dysplasia | Reese retinal dysplasia | OMIM ID:266400 +BMGC_DS11038,BMG_DS039254,OMIM ID:266350 | Red skin pigment anomaly of New Guinea | MeSH ID:C535515 | MONDO:0009956 | UMLS ID:C1849451 | red skin pigment anomaly of new guinea +BMGC_DS11039,BMG_DS039255,UMLS ID:C1849453 | MONDO:0009955 | DOID:0050774 | OMIM ID:266280 | Rapadilino syndrome | MeSH ID:C535288 | rapadilino syndrome +BMGC_DS11040,BMG_DS039256,"MeSH ID:C564856 | radioulnar synostosis-developmental delay-hypotonia syndrome | Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia | OMIM ID:266255 | MONDO:0009952 | UMLS ID:C1849470" +BMGC_DS11041,BMG_DS039257,"Radiculoneuropathy, Fatal Neonatal | radiculoneuropathy, fatal neonatal | UMLS ID:C1849471 | OMIM ID:266250 | MeSH ID:C564857 | MONDO:0009951" +BMGC_DS11042,BMG_DS039258,"MeSH ID:C564859 | UMLS ID:C1849507 | OMIM ID:266120 | Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to | hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | MONDO:0009946" +BMGC_DS11043,BMG_DS039259,"early-onset vitamin B6-dependent epilepsy 4 | UMLS ID:C1849508 | MONDO:0009945 | OMIM ID:266100 | EPILEPSY, PYRIDOXINE-DEPENDENT | DOID:0070519;DOID:0080768 | pyridoxine-dependent epilepsy" +BMGC_DS11044,BMG_DS039260,MONDO:0009942 | pyknoachondrogenesis | OMIM ID:265880 | Pyknoachondrogenesis | MeSH ID:C536251 | Camera syndrome | UMLS ID:C1849523 | SNOMEDCT ID:719258003 | Pyknoachondrogenesis (disorder) +BMGC_DS11045,BMG_DS039262,UMLS ID:C1849554 | congenital pulmonary lymphangiectasia | MONDO:0009933 | OMIM ID:265300 +BMGC_DS11046,BMG_DS039263,pulmonary bullae causing pneumothorax | OMIM ID:265200 | MONDO:0009932 | Pulmonary Bullae Causing Pneumothorax | MeSH ID:C564863 | UMLS ID:C1849566 +BMGC_DS11047,BMG_DS039264,Pseudouridinuria and mental defect | Pseudouridinuria and Mental Defect | OMIM ID:264500 | MONDO:0009922 | MeSH ID:C564864 | UMLS ID:C1849648 +BMGC_DS11048,BMG_DS039265,Holoprosencephaly and postaxial polydactyly syndrome | Holoprosencephaly and postaxial polydactyly syndrome (disorder) | holoprosencephaly-postaxial polydactyly syndrome | UMLS ID:C1849649 | SNOMEDCT ID:716091000 | OMIM ID:264480 | Pseudotrisomy 13 syndrome | MONDO:0009921 | MeSH ID:C535829 +BMGC_DS11049,BMG_DS039268,OMIM ID:264470 | MeSH ID:C536662 | UMLS ID:C1849678 | peroxisomal acyl-CoA oxidase deficiency | Peroxisomal ACYL-COA oxidase deficiency | DOID:0050797 | MONDO:0009919 +BMGC_DS11050,BMG_DS039269,"Fundus dystrophy, pseudoinflammatory recessive form | OMIM ID:264420 | MONDO:0009918 | UMLS ID:C1849694 | MeSH ID:C535828 | fundus dystrophy, pseudoinflammatory, recessive form" +BMGC_DS11051,BMG_DS039271,"OMIM ID:264270 | MONDO:0009915 | UMLS ID:C1849696 | MeSH ID:C564869 | Pseudohermaphroditism, Female, with Skeletal Anomalies | 46,XX disorder of sex development-skeletal anomalies syndrome" +BMGC_DS11052,BMG_DS039272,Prolactin Deficiency with Obesity and Enlarged Testes | MeSH ID:C564870 | MONDO:0009912 | OMIM ID:264120 | prolactin deficiency with obesity and enlarged testes | UMLS ID:C1849698 +BMGC_DS11053,BMG_DS039273,MONDO:0009909 | progesterone resistance | MeSH ID:C564871 | OMIM ID:264080 | Progesterone Resistance | UMLS ID:C1849699 +BMGC_DS11054,BMG_DS039274,pterin-4 alpha-carbinolamine dehydratase 1 deficiency | UMLS ID:C1849700 | MeSH ID:C538382 | MONDO:0009908 | OMIM ID:264070 | Hyperphenylalaninemia with primapterinuria +BMGC_DS11055,BMG_DS039275,MONDO:0009906 | OMIM ID:264050 | UMLS ID:C1849701 | prenatal bowing +BMGC_DS11056,BMG_DS039276,"OMIM ID:263650 | POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE | Bartsocas-Papas syndrome 1 | UMLS ID:C1849718 | MONDO:0009901" +BMGC_DS11057,BMG_DS039277,UMLS ID:C1849719 | OMIM ID:263630 | polysyndactyly-cardiac malformation syndrome | MeSH ID:C564875 | Bonneau Syndrome | MONDO:0009900 +BMGC_DS11058,BMG_DS039278,"MONDO:0009899 | UMLS ID:C1849720 | polyhydramnios, chronic idiopathic | Polyhydramnios, Chronic Idiopathic | MeSH ID:C564876 | OMIM ID:263610" +BMGC_DS11059,BMG_DS039279,"MONDO:0009898 | polysaccharide, storage of unusual | UMLS ID:C1849721 | OMIM ID:263600" +BMGC_DS11060,BMG_DS039280,"MONDO:0009897 | adult polyglucosan body disease | MeSH ID:C564878 | OMIM ID:263570 | UMLS ID:C1849722 | Polyglucosan Body Disease, Adult Form" +BMGC_DS11061,BMG_DS039281,"MONDO:0009896 | MeSH ID:C535524 | Infantile polymyoclonus | UMLS ID:C1849731 | OMIM ID:263550 | polymyoclonus, infantile" +BMGC_DS11062,BMG_DS039283,"MeSH ID:C564881 | Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia | MONDO:0009890 | OMIM ID:263210 | UMLS ID:C1849762 | Gillessen-Kaesbach-Nishimura syndrome" +BMGC_DS11063,BMG_DS039284,SNOMEDCT ID:870517000 | Periportal fibrosis (disorder) | OMIM ID:MTHU010078 | UMLS ID:C1849766 | Periportal fibrosis +BMGC_DS11064,BMG_DS039287,MONDO:0009884 | UMLS ID:C1849774 | OMIM ID:262875 | MeSH ID:C564884 | Platelet Prostacyclin Receptor Defect | platelet prostacyclin receptor defect +BMGC_DS11065,BMG_DS039289,OMIM ID:262650 | short stature due to growth hormone qualitative anomaly | UMLS ID:C1849779 | MONDO:0009879 | Kowarski syndrome | MeSH ID:C537505 +BMGC_DS11066,BMG_DS039290,OMIM ID:262300 | UMLS ID:C1849792 | Achromatopsia 3 | achromatopsia 3 | MeSH ID:C536129 | MONDO:0009875 | DOID:0110008 +BMGC_DS11067,BMG_DS039292,Pili torti developmental delay neurological abnormalities | pili torti-developmental delay-neurological abnormalities syndrome | OMIM ID:261990 | MeSH ID:C537398 | UMLS ID:C1849811 | MONDO:0009871 +BMGC_DS11068,BMG_DS039293,"Glycogen Storage Disease of Heart, Lethal Congenital | lethal congenital glycogen storage disease of heart | MONDO:0009867 | UMLS ID:C1849813 | OMIM ID:261740 | MeSH ID:C564888" +BMGC_DS11069,BMG_DS039294,"MONDO:0009864 | MeSH ID:C564890 | phosphoenolpyruvate carboxykinase deficiency, mitochondrial | OMIM ID:261650 | Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial | UMLS ID:C1849821" +BMGC_DS11070,BMG_DS039295,phenformin 4-hydroxylation | OMIM ID:261590 | UMLS ID:C1849927 | MONDO:0009860 +BMGC_DS11071,BMG_DS039298,MONDO:0009857 | DOID:0050791 | OMIM ID:261550 | UMLS ID:C1849930 | persistent Mullerian duct syndrome +BMGC_DS11072,BMG_DS039299,MONDO:0043364 | OMIM ID:261500 | eosinophil peroxidase deficiency | UMLS ID:C1850000 | MeSH ID:C564893 | Presentey Anomaly +BMGC_DS11073,BMG_DS039300,"peroneus tertius muscle, absence of | OMIM ID:261400 | UMLS ID:C1850001 | MONDO:0009854" +BMGC_DS11074,BMG_DS039301,"MONDO:0009851 | OMIM ID:260970 | MeSH ID:C564894 | 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" +BMGC_DS11075,BMG_DS039303,Pelviscapular dysplasia syndrome (disorder) | OMIM ID:260660 | UMLS ID:C1850040 | Pelviscapular dysplasia syndrome | Familial pelvis-scapular dysplasia | Pelviscapular dysplasia | MONDO:0009845 | Cousin syndrome | pelviscapular dysplasia | MeSH ID:C535550 | SNOMEDCT ID:719299009 +BMGC_DS11076,BMG_DS039305,"UMLS ID:C1850053 | OMIM ID:260600 | MeSH ID:C536319 | MONDO:0009843 | Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 | hypomyelinating leukodystrophy 3" +BMGC_DS11077,BMG_DS039306,Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain | MeSH ID:C564899 | UMLS ID:C1850054 | OMIM ID:260570 | Pelger-Huet-like anomaly and episodic fever with abdominal pain | MONDO:0009842 +BMGC_DS11078,BMG_DS039307,"MONDO:0009841 | UMLS ID:C1850055 | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder) | OMIM ID:260565 | MeSH ID:C536317 | PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome | PEHO (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy) syndrome | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome | Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome | PEHO syndrome | DOID:0080539 | SNOMEDCT ID:442511009" +BMGC_DS11079,BMG_DS039308,"PEHO-like syndrome | Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome | SNOMEDCT ID:770678005 | UMLS ID:C1850056 | PEHOL (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome | PEHOL (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like) syndrome | Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (disorder) | Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | MONDO:0020495 | OMIM ID:617507" +BMGC_DS11080,BMG_DS039310,"MeSH ID:C537240 | progressive supranuclear palsy-parkinsonism syndrome | MONDO:0009839 | UMLS ID:C1850077 | OMIM ID:260540 | Supranuclear Palsy, Progressive, 1, Atypical" +BMGC_DS11081,BMG_DS039311,UMLS ID:C1850079 | Parana Hard Skin Syndrome | OMIM ID:260530 | MeSH ID:C564905 | MONDO:0009838 | Parana hard-skin syndrome +BMGC_DS11082,BMG_DS039314,"MeSH ID:C564908 | UMLS ID:C1850096 | Pancreatic Agenesis, Congenital" +BMGC_DS11083,BMG_DS039315,Parkinsonian pyramidal syndrome (disorder) | MeSH ID:C538104 | MONDO:0009830 | Pallidopyramidal syndrome | UMLS ID:C1850100 | parkinsonian-pyramidal syndrome | OMIM ID:260300 | Parkinsonian pyramidal syndrome | SNOMEDCT ID:783012006 +BMGC_DS11084,BMG_DS039319,OMIM ID:260100 | PA polymorphism of alpha-2-globulin | UMLS ID:C1850104 | MONDO:0009826 +BMGC_DS11085,BMG_DS039320,MeSH ID:C564912 | OMIM ID:259780 | otoonychoperoneal syndrome | UMLS ID:C1850105 | MONDO:0009822 | Otoonychoperoneal Syndrome +BMGC_DS11086,BMG_DS039321,MONDO:0009821 | UMLS ID:C1850106 | lethal osteosclerotic bone dysplasia | RAINE SYNDROME | OMIM ID:611061 | OMIM ID:259660 | OMIM ID:259775 +BMGC_DS11087,BMG_DS039322,"autosomal recessive osteopetrosis 2 | MeSH ID:C536059 | MONDO:0009816 | UMLS ID:C1850126 | OMIM ID:259710 | Osteopetrosis, mild autosomal recessive form" +BMGC_DS11088,BMG_DS039323,"autosomal recessive osteopetrosis 1 | MONDO:0009815 | UMLS ID:C1850127 | MeSH ID:C564915 | OMIM ID:259700 | Osteopetrosis, Autosomal Recessive 1" +BMGC_DS11089,BMG_DS039324,"MeSH ID:C537706 | SNOMEDCT ID:732954002 | MONDO:0009814 | Osteopenia, intellectual disability, sparse hair syndrome (disorder) | UMLS ID:C1850140 | Osteopenia, intellectual disability, sparse hair syndrome | OMIM ID:259690 | osteopenia-intellectual disability-sparse hair syndrome | Kaler Garrity Stern syndrome" +BMGC_DS11090,BMG_DS039325,osteoma of middle ear | UMLS ID:C1850142 | OMIM ID:259650 | MONDO:0009811 +BMGC_DS11091,BMG_DS039327,multicentric osteolysis-nodulosis-arthropathy spectrum | MONDO:0018298 | UMLS ID:C1850155 +BMGC_DS11092,BMG_DS039328,OMIM ID:259450 | Bruck syndrome 1 | MeSH ID:C537406 | UMLS ID:C1850168 | MONDO:0009806 +BMGC_DS11093,BMG_DS039329,"UMLS ID:C1850169 | MeSH ID:C564921 | osteogenesis imperfecta type 9 | MONDO:0009805 | Osteogenesis Imperfecta, Type IX | OMIM ID:259440" +BMGC_DS11094,BMG_DS039330,"UMLS ID:C1850184 | MONDO:0009803 | MeSH ID:C537558 | OMIM ID:259410 | congenital osteogenesis imperfecta-microcephaly-cataracts syndrome | Osteogenesis imperfecta congenita, microcephaly, and cataracts" +BMGC_DS11095,BMG_DS039331,"MeSH ID:C564922 | UMLS ID:C1850185 | Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski | osteodysplasty, precocious, of Danks, Mayne, and Kozlowski | MONDO:0009802 | OMIM ID:259270" +BMGC_DS11096,BMG_DS039334,"oral sensibility, disturbance of | UMLS ID:C1850269 | OMIM ID:258800 | MONDO:0009791" +BMGC_DS11097,BMG_DS039335,DOID:0111435 | optic atrophy 6 | MeSH ID:C537127 | Optic atrophy 6 | MONDO:0009786 | OMIM ID:258500 | UMLS ID:C1850281 +BMGC_DS11098,BMG_DS039336,UMLS ID:C1850302 | OMIM ID:258470 | Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria | MONDO:0009784 | ophthalmoplegic neuromuscular disorder with abnormal mitochondria | MeSH ID:C564925 +BMGC_DS11099,BMG_DS039337,autosomal recessive progressive external ophthalmoplegia | UMLS ID:C1850303 | MONDO:0016810 +BMGC_DS11100,BMG_DS039338,ophthalmoplegia totalis with ptosis and miosis | MONDO:0009782 | Ophthalmoplegia Totalis with Ptosis and Miosis | OMIM ID:258400 | MeSH ID:C564927 | UMLS ID:C1850314 +BMGC_DS11101,BMG_DS039339,MeSH ID:C537752 | OMIM ID:258360 | Onychotrichodysplasia and neutropenia | MONDO:0009781 | UMLS ID:C1850316 +BMGC_DS11102,BMG_DS039340,OMIM ID:258320 | UMLS ID:C1850317 | Omphalocele cleft palate syndrome lethal | lethal omphalocele-cleft palate syndrome | MeSH ID:C537747 | MONDO:0009780 +BMGC_DS11103,BMG_DS039341,MeSH ID:C537746 | autosomal recessive omodysplasia | Omodysplasia type 1 | OMIM ID:258315 | UMLS ID:C1850318 | MONDO:0009779 | DOID:0080844 | omodysplasia 1 +BMGC_DS11104,BMG_DS039343,MeSH ID:C564931 | MONDO:0009777 | Oliver syndrome | UMLS ID:C1850320 | Oliver Syndrome | OMIM ID:258200 +BMGC_DS11105,BMG_DS039344,OMIM ID:258040 | exstrophy-epispadias complex | UMLS ID:C1850321 | MONDO:0017919 +BMGC_DS11106,BMG_DS039345,Severe oculo-renal-cerebellar syndrome | MeSH ID:C537739 | Severe oculo-renal-cerebellar syndrome (disorder) | ORC (oculo-renal-cerebellar) syndrome | Oculorenocerebellar syndrome | MONDO:0009772 | UMLS ID:C1850331 | OMIM ID:257970 | oculorenocerebellar syndrome | SNOMEDCT ID:1208341008 | Hunter Jurenka Thompson syndrome +BMGC_DS11107,BMG_DS039347,oculo-palato-cerebral syndrome | UMLS ID:C1850338 | MeSH ID:C564935 | OMIM ID:257910 | Oculopalatocerebral Syndrome | MONDO:0009769 +BMGC_DS11108,BMG_DS039349,Mosaic variegated aneuploidy syndrome 1 | MeSH ID:C536987 | mosaic variegated aneuploidy syndrome | DOID:0080688 | MONDO:0009759 | UMLS ID:C1850343 | OMIM ID:257300 | mosaic variegated aneuploidy syndrome 1 +BMGC_DS11109,BMG_DS039350,"OMIM ID:604096 | UMLS ID:C1850362 | congenital stationary night blindness 1B | DOID:0110865 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B | MONDO:0009758 | OMIM ID:257270" +BMGC_DS11110,BMG_DS039352,OMIM ID:257150 | MONDO:0009755 | UMLS ID:C1850380 | NEUTROPHIL ACTIN DYSFUNCTION | neutrophil actin dysfunction +BMGC_DS11111,BMG_DS039353,"MONDO:0009754 | Neutropenia, Lethal Congenital, with Eosinophilia | UMLS ID:C1850381 | MeSH ID:C564943 | OMIM ID:257100 | neutropenia, lethal congenital, with eosinophilia" +BMGC_DS11112,BMG_DS039355,"UMLS ID:C1850383 | Neuropathy, Painful | OMIM ID:256870 | neuropathy, painful | MeSH ID:C564945 | MONDO:0009752" +BMGC_DS11113,BMG_DS039358,UMLS ID:C1850386 | GIANT AXONAL NEUROPATHY 1 | giant axonal neuropathy 1 | OMIM ID:256850 | OMIM ID:605379 | MONDO:0009749 +BMGC_DS11114,BMG_DS039360,"OMIM ID:256840 | MeSH ID:C564948 | hereditary sensory and autonomic neuropathy with spastic paraplegia | Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive | MONDO:0009748 | UMLS ID:C1850395" +BMGC_DS11115,BMG_DS039361,mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | UMLS ID:C1850406 | NAVAJO NEUROHEPATOPATHY | MONDO:0009747 | OMIM ID:256810 +BMGC_DS11116,BMG_DS039362,DOID:0080125 | mitochondrial DNA depletion syndrome 6 | UMLS ID:C1850407 | Navajo Familial Neurogenic Arthropathy | MeSH ID:C538344 +BMGC_DS11117,BMG_DS039363,"neuronal ceroid lipofuscinosis 5 | OMIM ID:608102 | MONDO:0009745 | UMLS ID:C1850442 | OMIM ID:256731 | CEROID LIPOFUSCINOSIS, NEURONAL, 5" +BMGC_DS11118,BMG_DS039364,"UMLS ID:C1850451 | OMIM ID:256730 | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | OMIM ID:600722 | MONDO:0009744 | OMIM ID:214200 | neuronal ceroid lipofuscinosis 1" +BMGC_DS11119,BMG_DS039367,MONDO:0009731 | OMIM ID:256200 | Nephrosis deafness urinary tract digital malformation | nephrosis-deafness-urinary tract-digital malformations syndrome | UMLS ID:C1850552 | MeSH ID:C536402 +BMGC_DS11120,BMG_DS039369,atelosteogenesis type II | MeSH ID:C535395 | UMLS ID:C1850554 | OMIM ID:256050 | SNOMEDCT ID:254055004 | Atelosteogenesis de la Chapelle type | Atelosteogenesis type 2 | MONDO:0009727 | Atelosteogenesis type 2 (disorder) +BMGC_DS11121,BMG_DS039370,MeSH ID:C535395 | MONDO:0800307 | UMLS ID:C1850555 | De La Chapelle Dysplasia | de la Chapelle dysplasia +BMGC_DS11122,BMG_DS039371,"Japanese autoinflammatory syndrome with lipodystrophy | Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) | UMLS ID:C1850568 | MONDO:0009726 | MeSH ID:C538334 | proteosome-associated autoinflammatory syndrome | Autoinflammation, lipodystrophy and dermatosis syndrome | Proteasome-associated autoinflammatory syndrome | Nakajo syndrome | SNOMEDCT ID:702449004 | Nakajo-Nishimura syndrome" +BMGC_DS11123,BMG_DS039372,DOID:0110928 | OMIM ID:256030 | UMLS ID:C1850569 | Nemaline Myopathy 2 | MeSH ID:C538349 | nemaline myopathy 2 | MONDO:0009725 +BMGC_DS11124,BMG_DS039375,UMLS ID:C1850599 | MeSH ID:C564963 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency +BMGC_DS11125,BMG_DS039377,"DOID:0060346 | Native American myopathy | MeSH ID:C538343 | Congenital myopathy, cleft palate. malignant hyperthermia syndrome | MONDO:0009722 | OMIM ID:255995 | SNOMEDCT ID:723439002 | Bailey-Bloch congenital myopathy | Native American myopathy (disorder) | UMLS ID:C1850625" +BMGC_DS11126,BMG_DS039378,MeSH ID:C538342 | MONDO:0009721 | Deafness with cataract and skeletal anomaly syndrome | UMLS ID:C1850626 | Deafness with cataract and skeletal anomaly syndrome (disorder) | Nathalie syndrome | OMIM ID:255990 | SNOMEDCT ID:716170005 +BMGC_DS11127,BMG_DS039379,MONDO:0009720 | Nasodigitoacoustic syndrome | Keipert syndrome | OMIM ID:255980 | OMIM ID:301026 | UMLS ID:C1850627 | DOID:0111842 | SNOMEDCT ID:763774001 | Keipert syndrome (disorder) | MeSH ID:C538337 +BMGC_DS11128,BMG_DS039381,"OMIM ID:255600 | MONDO:0009714 | UMLS ID:C1850671 | myosclerosis | MeSH ID:C564968 | Myosclerosis, Autosomal Recessive" +BMGC_DS11129,BMG_DS039382,MONDO:0009712 | MeSH ID:C564969 | OMIM ID:255320 | Minicore Myopathy with External Ophthalmoplegia | UMLS ID:C1850674 | congenital multicore myopathy with external ophthalmoplegia +BMGC_DS11130,BMG_DS039383,"myopathy, myosin storage, autosomal recessive | MeSH ID:C564970 | OMIM ID:255160 | MONDO:0009708 | Myopathy, Hyaline Body, Autosomal Recessive | UMLS ID:C1850709" +BMGC_DS11131,BMG_DS039385,"hereditary myopathy with lactic acidosis due to ISCU deficiency | UMLS ID:C1850718 | MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE | MONDO:0009706 | OMIM ID:255125" +BMGC_DS11132,BMG_DS039387,"OMIM ID:254950 | UMLS ID:C1850745 | myopathy, granulovacuolar lobular, with electrical myotonia | MeSH ID:C564974 | Myopathy, Granulovacuolar Lobular, with Electrical Myotonia | MONDO:0009701" +BMGC_DS11133,BMG_DS039388,"MONDO:0031415 | MeSH ID:C536102 | Myopathy, congenital nonprogressive with Moebius and Robin sequences | UMLS ID:C1850746 | Carey-Fineman-Ziter syndrome" +BMGC_DS11134,BMG_DS039391,UMLS ID:C1850764 | MONDO:0800306 | myoclonic epilepsy of Lafora 2 | OMIM ID:620681 +BMGC_DS11135,BMG_DS039392,"MONDO:0020752 | UMLS ID:C1850778 | myoclonic epilepsy, juvenile, susceptibility to, 1" +BMGC_DS11136,BMG_DS039393,"MONDO:0009695 | UMLS ID:C1850779 | OMIM ID:254700 | myeloproliferative disease, autosomal recessive | MeSH ID:C564977 | Myeloproliferative Disease, Autosomal Recessive" +BMGC_DS11137,BMG_DS039394,UMLS ID:C1850792 | congenital myasthenic syndrome 10 | MeSH ID:C536089 | OMIM ID:254300 | MONDO:0009690 | Congenital myasthenic syndrome ib | OMIM ID:609456 +BMGC_DS11138,BMG_DS039395,"MeSH ID:C564979 | OMIM ID:254190 | UMLS ID:C1850806 | MONDO:0009687 | myasthenia, congenital, refractory to acetylcholinesterase inhibitors | Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors" +BMGC_DS11139,BMG_DS039396,"MONDO:0009686 | UMLS ID:C1850807 | Musk, Inability to Smell | musk, inability to smell | MeSH ID:C564980 | OMIM ID:254150" +BMGC_DS11140,BMG_DS039397,"Muscular Hypertonia, Lethal | UMLS ID:C1850827 | MONDO:0009684 | OMIM ID:254120 | MeSH ID:C564982 | muscular hypertonia, lethal" +BMGC_DS11141,BMG_DS039398,"OMIM ID:254100 | UMLS ID:C1850840 | MONDO:0009682 | muscular dystrophy, congenital, with rapid progression | MeSH ID:C564983 | Muscular Dystrophy, Congenital, with Rapid Progression" +BMGC_DS11142,BMG_DS039399,"UMLS ID:C1850864 | congenital muscular dystrophy-infantile cataract-hypogonadism syndrome | OMIM ID:254000 | MeSH ID:C537385 | Muscular dystrophy, congenital, infantile with cataract and hypogonadism | MONDO:0009680" +BMGC_DS11143,BMG_DS039401,"UMLS ID:C1850889 | autosomal recessive limb-girdle muscular dystrophy type 2B | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B | MONDO:0009676 | OMIM ID:253601" +BMGC_DS11144,BMG_DS039402,Gastrocutaneous syndrome | UMLS ID:C1850899 | SNOMEDCT ID:782946000 | gastrocutaneous syndrome | Gastrocutaneous syndrome (disorder) | OMIM ID:137270 | MONDO:0007651 | MeSH ID:C535651 +BMGC_DS11145,BMG_DS039405,"UMLS ID:C1850934 | MeSH ID:C564991 | OMIM ID:137050 | gamma-A-globulin, defect in assembly of | Gamma-A-Globulin, Defect in Assembly of | MONDO:0007643" +BMGC_DS11146,BMG_DS039406,"Sorsby fundus dystrophy | DOID:0090114 | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY | UMLS ID:C1850938 | Sorsby's fundus dystrophy | MONDO:0007640 | OMIM ID:136900" +BMGC_DS11147,BMG_DS039408,"corneal dystrophy, Fuchs endothelial, 1 | Corneal dystrophy, Fuchs' endothelial, 1 | MONDO:0007637 | UMLS ID:C1850959 | OMIM ID:136800 | MeSH ID:C535478" +BMGC_DS11148,BMG_DS039412,"MONDO:0007633 | UMLS ID:C1850982 | Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness | Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness | OMIM ID:136600 | MeSH ID:C564999" +BMGC_DS11149,BMG_DS039417,"MONDO:0007626 | familial congenital palsy of trochlear nerve | OMIM ID:136480 | UMLS ID:C1850996 | MeSH ID:C565007 | fourth cranial nerve palsy, familial congenital" +BMGC_DS11150,BMG_DS039421,"Eng-Strom syndrome | FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE | MONDO:0007618 | OMIM ID:135950 | UMLS ID:C1851081" +BMGC_DS11151,BMG_DS039423,laurin-Sandrow syndrome | DOID:0111350 | OMIM ID:605522 | UMLS ID:C1851100 | Laurin-Sandrow syndrome | MONDO:0007615 | LAURIN-SANDROW SYNDROME | OMIM ID:135750 +BMGC_DS11152,BMG_DS039424,"UMLS ID:C1851101 | Laurin-Sandrow Syndrome, Segmental | MeSH ID:C535689" +BMGC_DS11153,BMG_DS039425,"congenital fibrosis of extraocular muscles type 1 | OMIM ID:135700 | UMLS ID:C1851102 | MeSH ID:C567739 | Fibrosis Of Extraocular Muscles, Congenital, 1 | MONDO:0021083" +BMGC_DS11154,BMG_DS039426,SNOMEDCT ID:722449007 | OMIM ID:135550 | MONDO:0007612 | MeSH ID:C535886 | Jones syndrome | gingival fibromatosis-progressive deafness syndrome | UMLS ID:C1851112 | Gingival fibromatosis with progressive deafness syndrome | Gingival fibromatosis with progressive deafness syndrome (disorder) +BMGC_DS11155,BMG_DS039427,"OMIM ID:135400 | Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia | UMLS ID:C1851120 | MeSH ID:C565016 | MONDO:0007610 | gingival fibromatosis-hypertrichosis syndrome" +BMGC_DS11156,BMG_DS039428,"hereditary desmoid disease | Desmoid disease, hereditary | UMLS ID:C1851124 | DOID:0111349 | MeSH ID:C535944" +BMGC_DS11157,BMG_DS039429,SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS | OMIM ID:134934 | UMLS ID:C1851152 +BMGC_DS11158,BMG_DS039430,fibrinolytic defect | OMIM ID:134900 | Fibrinolytic Defect | MeSH ID:C565017 | MONDO:0007605 | UMLS ID:C1851184 +BMGC_DS11159,BMG_DS039432,DOID:0111150 | UMLS ID:C1851286 | isolated ectopia lentis | autosomal dominant isolated ectopia lentis 1 | MONDO:0015998 | MeSH ID:C536184 | Ectopia lentis isolated +BMGC_DS11160,BMG_DS039433,"hemochromatosis type 5 | Iron Overload, Autosomal Dominant | OMIM ID:615517 | MeSH ID:C565020 | MONDO:0014225 | UMLS ID:C1851316" +BMGC_DS11161,BMG_DS039434,"Familial Mediterranean Fever | OMIM ID:134610 | Familial Mediterranean Fever, Autosomal Dominant | UMLS ID:C1851347 | MONDO:0007601 | familial Mediterranean fever, autosomal dominant | MeSH ID:D010505" +BMGC_DS11162,BMG_DS039435,"MeSH ID:C565022 | MONDO:0007599 | factor 9 and Factor XI, combined deficiency of | OMIM ID:134540 | Familial Multiple Coagulation Factor Deficiency VI | UMLS ID:C1851374" +BMGC_DS11163,BMG_DS039437,"MONDO:0007597 | MeSH ID:C565024 | UMLS ID:C1851376 | factor VIII and Factor IX, combined deficiency of | OMIM ID:134510 | Familial Multiple Coagulation Factor Deficiency II" +BMGC_DS11164,BMG_DS039438,"UMLS ID:C1851377 | factor VII and Factor VIII, combined deficiency of | Familial Multiple Coagulation Factor Deficiency IV | MeSH ID:C565025 | MONDO:0007595 | OMIM ID:134430" +BMGC_DS11165,BMG_DS039439,factor 5 excess with spontaneous thrombosis | MONDO:0007594 | UMLS ID:C1851378 | OMIM ID:134400 | Factor V Excess with Spontaneous Thrombosis | MeSH ID:C565026 +BMGC_DS11166,BMG_DS039440,"Facial Palsy, Familial Recurrent Peripheral | UMLS ID:C1851399 | MeSH ID:C565028 | familial recurrent peripheral facial palsy | OMIM ID:134200 | MONDO:0007592" +BMGC_DS11167,BMG_DS039441,exudative vitreoretinopathy 1 | Exudative vitreoretinopathy 1 | DOID:0111412 | UMLS ID:C1851402 | MONDO:0007589 | MeSH ID:C536382 | OMIM ID:133780 +BMGC_DS11168,BMG_DS039443,"EXOSTOSES, MULTIPLE, TYPE II | UMLS ID:C1851413 | OMIM ID:608210 | MONDO:0007586 | OMIM ID:133701 | exostoses, multiple, type 2" +BMGC_DS11169,BMG_DS039444,"MONDO:0007584 | Exostoses with Anetodermia and Brachydactyly, Type E | MeSH ID:C565034 | OMIM ID:133690 | exostoses-anetodermia-brachydactyly type E syndrome | UMLS ID:C1851428" +BMGC_DS11170,BMG_DS039445,Cerebrooculofacioskeletal Syndrome 3 | MONDO:0014696 | OMIM ID:616570 | UMLS ID:C1851443 | cerebrooculofacioskeletal syndrome 3 | MeSH ID:C565035 | DOID:0080913 +BMGC_DS11171,BMG_DS039446,"UMLS ID:C1851463 | OMIM ID:133500 | exchondrosis of pinna, posterior | MONDO:0007581 | Exchondrosis Of Pinna, Posterior | MeSH ID:C565036" +BMGC_DS11172,BMG_DS039448,MONDO:0018853 | UMLS ID:C1851480 | MeSH ID:D056266 | transgrediens et progrediens palmoplantar keratoderma | Erythrokeratodermia Variabilis | DOID:0050467 | Greither Disease | erythrokeratodermia variabilis +BMGC_DS11173,BMG_DS039449,SNOMEDCT ID:719255000 | spinocerebellar ataxia type 34 | UMLS ID:C1851481 | Spinocerebellar ataxia and erythrokeratodermia | MeSH ID:C535738 | OMIM ID:133190 | Spinocerebellar ataxia type 34 (disorder) | MONDO:0007574 | Erythrokeratodermia with ataxia | Spinocerebellar ataxia type 34 +BMGC_DS11174,BMG_DS039450,MeSH ID:C565041 | MONDO:0007570 | OMIM ID:133000 | UMLS ID:C1851502 | Erythema Palmare Hereditarium | erythema palmare hereditarium +BMGC_DS11175,BMG_DS039451,"MeSH ID:C535510 | erythema nodosum, familial | UMLS ID:C1851503 | OMIM ID:132990 | Erythema nodosum, familial | MONDO:0007569" +BMGC_DS11176,BMG_DS039452,"Aortic aneurysm, familial thoracic 4 | OMIM ID:132900 | UMLS ID:C1851504 | aortic aneurysm, familial thoracic 4 | MONDO:0007568 | MeSH ID:C537784" +BMGC_DS11177,BMG_DS039455,OMIM ID:132700 | MONDO:0007565 | UMLS ID:C1851526 | familial cylindromatosis +BMGC_DS11178,BMG_DS039456,"Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness | MONDO:0007562 | multiple epiphyseal dysplasia with myopia and deafness | DOID:0111348 | UMLS ID:C1851536 | OMIM ID:132450 | MeSH ID:C565046 | multiple epiphyseal dysplasia, Beighton type" +BMGC_DS11179,BMG_DS039459,"OMIM ID:132090 | self-limited childhood occipital epilepsy | MeSH ID:D004828 | UMLS ID:C1851549 | Benign Occipital Epilepsy | MONDO:0007558 | Epilepsies, Partial" +BMGC_DS11180,BMG_DS039460,Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase | MONDO:0007553 | OMIM ID:131880 | UMLS ID:C1851570 | epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase | MeSH ID:C565049 +BMGC_DS11181,BMG_DS039461,Transient bullous dermolysis of the newborn | DOID:0111345 | MeSH ID:C536979 | UMLS ID:C1851573 | transient bullous dermolysis of the newborn | MONDO:0007548 | OMIM ID:131705 +BMGC_DS11182,BMG_DS039464,"MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | MONDO:0007546 | DOID:0111344 | UMLS ID:C1851585 | myeloproliferative disorder, chronic, with eosinophilia | OMIM ID:131440 | myeloproliferative disorder with eosinophilia" +BMGC_DS11183,BMG_DS039465,OMIM ID:131430 | MONDO:0007545 | EOSINOPHILOPENIA | Eosinophilopenia | UMLS ID:C1851586 +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 | OMIM ID:600276 | DOID:0111343 | MONDO:0007537 | OMIM ID:130720 +BMGC_DS11186,BMG_DS039469,"Emphysema, Hereditary Pulmonary | MONDO:0007535 | UMLS ID:C1851718 | OMIM ID:130700 | MeSH ID:C565057 | emphysema, hereditary pulmonary" +BMGC_DS11187,BMG_DS039470,UMLS ID:C1851741 | MONDO:0007533 | MeSH ID:C565058 | elliptocytosis 2 | Elliptocytosis 2 | OMIM ID:130600 +BMGC_DS11188,BMG_DS039471,MONDO:0007531 | electroencephalographic peculiarity: fronto-precentral beta wave groups | OMIM ID:130300 | UMLS ID:C1851756 +BMGC_DS11189,BMG_DS039472,OMIM ID:130200 | UMLS ID:C1851757 | MONDO:0007530 | electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon +BMGC_DS11190,BMG_DS039473,DOID:0080728 | MONDO:0020522 | Ehlers-Danlos syndrome type 7B | UMLS ID:C1851801 | EDS VIIB | MeSH ID:C565061 | Ehlers-Danlos syndrome arthrochalasia type 2 | OMIM ID:617821 +BMGC_DS11191,BMG_DS039474,"OMIM ID:129900 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | UMLS ID:C1851841 | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 | MONDO:0007520" +BMGC_DS11192,BMG_DS039475,"MeSH ID:C565063 | edema, familial idiopathic, prepubertal | OMIM ID:129840 | UMLS ID:C1851847 | Edema, Familial Idiopathic, Prepubertal | MONDO:0007518" +BMGC_DS11193,BMG_DS039477,Ectrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate | ectrodactyly and ectodermal dysplasia without cleft lip/palate | MeSH ID:C565065 | UMLS ID:C1851849 | OMIM ID:129810 | MONDO:0007516 +BMGC_DS11194,BMG_DS039478,MeSH ID:C538015 | Ectodermal dysplasia adrenal cyst | ectodermal dysplasia with adrenal cyst | UMLS ID:C1851850 | MONDO:0007513 | OMIM ID:129550 +BMGC_DS11195,BMG_DS039481,OROFACIAL CLEFT 8 | orofacial cleft 8 | DOID:0080401 | MONDO:0029145 | OMIM ID:618149 | OMIM ID:603273 | UMLS ID:C1851878 +BMGC_DS11196,BMG_DS039482,UMLS ID:C1851888 | OMIM ID:129150 | ECHO VIRUS 11 SENSITIVITY +BMGC_DS11197,BMG_DS039483,"earring holes, natural | UMLS ID:C1851895 | MONDO:0007505 | OMIM ID:129000" +BMGC_DS11198,BMG_DS039484,OMIM ID:128980 | MONDO:0007504 | thickened earlobes-conductive deafness syndrome | UMLS ID:C1851896 +BMGC_DS11199,BMG_DS039485,MONDO:0007503 | ear without helix | OMIM ID:128800 | UMLS ID:C1851899 +BMGC_DS11200,BMG_DS039486,"ear pits, posterior helical | MONDO:0007502 | UMLS ID:C1851900 | OMIM ID:128710" +BMGC_DS11201,BMG_DS039487,ear folding | MONDO:0007499 | UMLS ID:C1851901 | OMIM ID:128500 +BMGC_DS11202,BMG_DS039488,"UMLS ID:C1851905 | ear antitragus, tag at base of | OMIM ID:128290 | MONDO:0007497" +BMGC_DS11203,BMG_DS039489,OMIM ID:128230 | UMLS ID:C1851920 | MeSH ID:C538007 | dopa-responsive dystonia | dystonia 5 | Dopa-Responsive Dystonia | MONDO:0016812;MONDO:0007495 +BMGC_DS11204,BMG_DS039491,Paroxysmal dyskinesia | UMLS ID:C1851936 | Paroxysmal choreoathetosis (disorder) | SNOMEDCT ID:49949003 | Paroxysmal choreoathetosis +BMGC_DS11205,BMG_DS039492,OMIM ID:128101 | UMLS ID:C1851943 | torsion dystonia 4 | MONDO:0007493 | Dystonia musculorum deformans 4 | MeSH ID:C538004 +BMGC_DS11206,BMG_DS039493,"OMIM ID:128100 | UMLS ID:C1851945 | MONDO:0007492 | DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | OMIM ID:605204 | early-onset generalized limb-onset dystonia" +BMGC_DS11207,BMG_DS039494,OMIM ID:128000 | MONDO:0007491 | Dystelephalangy | dystelephalangy | UMLS ID:C1851955 | MeSH ID:C538000 +BMGC_DS11208,BMG_DS039498,"dyslexia, susceptibility to, 1 | UMLS ID:C1851967 | MONDO:0007487 | OMIM ID:127700" +BMGC_DS11209,BMG_DS039502,"dwarfism, Levi type | MeSH ID:C565081 | Dwarfism, Levi Type | OMIM ID:127100 | MONDO:0007479 | UMLS ID:C1851994" +BMGC_DS11210,BMG_DS039503,OMIM ID:126950 | UMLS ID:C1851996 | MONDO:0020792 | dwarfism with tall vertebrae | MeSH ID:C535725 | Dwarfism tall vertebrae +BMGC_DS11211,BMG_DS039506,"MONDO:0007475 | MeSH ID:C565086 | UMLS ID:C1852008 | Duodenal Ulcer, Hyperpepsinogenemic I | OMIM ID:126850 | duodenal ulcer, hyperpepsinogenemic 1" +BMGC_DS11212,BMG_DS039507,duodenal ulcer due to antral G-cell hyperfunction | OMIM ID:126840 | MONDO:0007474 | Duodenal ulcer due to antral G-cell hyperfunction | MeSH ID:C535721 | UMLS ID:C1852009 +BMGC_DS11213,BMG_DS039508,calvarial doughnut lesions-bone fragility syndrome | OMIM ID:126550 | SNOMEDCT ID:720598005 | Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Familial doughnut lesions of skull | Calvarial doughnut lesion with bone fragility syndrome | MONDO:0007470 | UMLS ID:C1852022 | Doughnut lesion of calvaria and bone fragility syndrome +BMGC_DS11214,BMG_DS039509,MONDO:0007469 | double nail for fifth toe | UMLS ID:C1852023 | OMIM ID:126500 +BMGC_DS11215,BMG_DS039511,distichiasis with congenital anomalies of the heart and peripheral vasculature | MeSH ID:C565092 | Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature | OMIM ID:126320 | UMLS ID:C1852062 | MONDO:0007465 +BMGC_DS11216,BMG_DS039514,"OMIM ID:126180 | UMLS ID:C1852074 | MONDO:0007460 | discrimination, Two-point, reduction 1N" +BMGC_DS11217,BMG_DS039515,"MeSH ID:C565097 | DOID:0111596 | UMLS ID:C1852085 | MONDO:0007458;MONDO:0015240 | distal arthrogryposis type 1 | digitotalar dysmorphism | Digitotalar Dysmorphism | digitotalar dysmorphism; ulnar drift, hereditary | OMIM ID:126050" +BMGC_DS11218,BMG_DS039516,"MONDO:0007457 | diastema, dental medial | OMIM ID:125900 | UMLS ID:C1852086" +BMGC_DS11219,BMG_DS039518,"DIABETES MELLITUS, INSULIN-DEPENDENT, 2 | OMIM ID:125852 | type 1 diabetes mellitus 2 | UMLS ID:C1852092 | MONDO:0007454" +BMGC_DS11220,BMG_DS039519,"MONDO:0007452 | MeSH ID:C565101 | Maturity-Onset Diabetes of the Young, Type 1 | UMLS ID:C1852093 | maturity-onset diabetes of the young type 1 | OMIM ID:125850" +BMGC_DS11221,BMG_DS039520,keratosis palmoplantaris striata 2 | UMLS ID:C1852127 | OMIM ID:612908 | MONDO:0013034 | OMIM ID:125647 | KERATOSIS PALMOPLANTARIS STRIATA II +BMGC_DS11222,BMG_DS039521,MeSH ID:C565103 | UMLS ID:C1852144 | MONDO:0007449 | Dermoodontodysplasia | OMIM ID:125640 | dermo-odonto dysplasia +BMGC_DS11223,BMG_DS039522,MONDO:0007448 | OMIM ID:125635 | Familial dermographism | UMLS ID:C1852145 | MeSH ID:C536612 | familial dermatographia +BMGC_DS11224,BMG_DS039523,UMLS ID:C1852146 | DERMODISTORTIVE URTICARIA | OMIM ID:125630 +BMGC_DS11225,BMG_DS039524,UMLS ID:C1852150 | OMIM ID:136000 | isolated congenital adermatoglyphia | MONDO:0007619 +BMGC_DS11226,BMG_DS039527,"OMIM ID:125540 | UMLS ID:C1852160 | MeSH ID:C565109 | MONDO:0007444 | dermal Ridges, patternless | Dermal Ridges, Patternless" +BMGC_DS11227,BMG_DS039529,major affective disorder 1 | OMIM ID:125480 | MONDO:0007440 | UMLS ID:C1852197 +BMGC_DS11228,BMG_DS039530,MeSH ID:C565112 | UMLS ID:C1852200 | MONDO:0007439 | deoxyribose-5-phosphate aldolase deficiency | Deoxyribose-5-Phosphate Aldolase Deficiency | OMIM ID:125460 +BMGC_DS11229,BMG_DS039531,UMLS ID:C1852201 | MONDO:0007438 | dentin dysplasia-sclerotic bones syndrome | Dentin dysplasia sclerotic bones | OMIM ID:125440 | MeSH ID:C538213 +BMGC_DS11230,BMG_DS039532,"DOID:0111341 | OMIM ID:125350 | UMLS ID:C1852222 | MONDO:0007434 | primary failure of tooth eruption | Failure of Tooth Eruption, Primary | MeSH ID:C565114" +BMGC_DS11231,BMG_DS039533,MONDO:0007433 | dementia/parkinsonism with non-Alzheimer amyloid plaques | MeSH ID:C565115 | OMIM ID:125320 | Dementia-Parkinsonism With Non-Alzheimer Amyloid Plaques | UMLS ID:C1852223 +BMGC_DS11232,BMG_DS039537,MONDO:0021944 | UMLS ID:C1852271 | Auditory neuropathy | auditory neuropathy | MeSH ID:C538268 | OMIM ID:MTHU018711 +BMGC_DS11233,BMG_DS039539,MONDO:0007427 | OMIM ID:125050 | deafness with anhidrotic ectodermal dysplasia | Deafness with Anhidrotic Ectodermal Dysplasia | UMLS ID:C1852279 | MeSH ID:C565119 +BMGC_DS11234,BMG_DS039540,"UMLS ID:C1852280 | Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease | deafness, sensorineural, with peripheral neuropathy and arterial disease | OMIM ID:124950 | MeSH ID:C565120 | MONDO:0007425" +BMGC_DS11235,BMG_DS039541,"MONDO:0007424 | MeSH ID:C565121 | autosomal dominant nonsyndromic hearing loss 1 | OMIM ID:124900 | UMLS ID:C1852282 | Deafness, Autosomal Dominant 1" +BMGC_DS11236,BMG_DS039542,"UMLS ID:C1852283 | MONDO:0007423 | Deafness, Mid-Tone Neural | MeSH ID:C565122 | OMIM ID:124700 | deafness, mid-tone neural" +BMGC_DS11237,BMG_DS039544,OMIM ID:124400 | OMIM ID:124300 | UMLS ID:C1852294 | Darwinian tubercle of pinna | MONDO:0007418 +BMGC_DS11238,BMG_DS039545,"Darier Disease, Acral Hemorrhagic Type | MeSH ID:C565125 | UMLS ID:C1852296" +BMGC_DS11239,BMG_DS039546,"UMLS ID:C1852297 | Darier Disease, Segmental | MeSH ID:C565126" +BMGC_DS11240,BMG_DS039548,Mitochondrial Complex III Deficiency | MeSH ID:C565128 | mitochondrial complex III deficiency | UMLS ID:C1852372 | MONDO:0015448 | DOID:0111139 +BMGC_DS11241,BMG_DS039549,UMLS ID:C1852373 | MeSH ID:C538525 | OMIM ID:MTHU018751 | Mitochondrial encephalopathy +BMGC_DS11242,BMG_DS039552,Beare-Stevenson cutis gyrata syndrome | Cutis Gyrata Syndrome of Beare And Stevenson | MeSH ID:C565129 | UMLS ID:C1852406 | OMIM ID:123790 | MONDO:0007412 +BMGC_DS11243,BMG_DS039555,"OMIM ID:604307 | CATARACT, COPPOCK-LIKE | UMLS ID:C1852438" +BMGC_DS11244,BMG_DS039558,"MeSH ID:C565138 | Cryptophthalmos, Unilateral or Bilateral, Isolated | DOID:0111717 | UMLS ID:C1852453 | isolated cryptophthalmia | MONDO:0007410 | OMIM ID:123570" +BMGC_DS11245,BMG_DS039560,"OMIM ID:123557 | cryptotia, familial | MONDO:0007408 | MeSH ID:C565140 | UMLS ID:C1852455 | Cryptotia, Familial" +BMGC_DS11246,BMG_DS039561,"UMLS ID:C1852456 | MONDO:0007407 | Cryoglobulinemia, Familial Mixed | OMIM ID:123550 | MeSH ID:C565141 | Cryoglobulinemic vasculitis" +BMGC_DS11247,BMG_DS039562,"MeSH ID:C565142 | OMIM ID:123540 | cryofibrinogenemia, familial primary | Cryofibrinogenemia, Familial Primary | MONDO:0007406 | UMLS ID:C1852457" +BMGC_DS11248,BMG_DS039566,"craniometaphyseal dysplasia, autosomal dominant | DOID:0080801 | MONDO:0007397 | autosomal dominant craniometaphyseal dysplasia | UMLS ID:C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | OMIM ID:605145 | OMIM ID:123000" +BMGC_DS11249,BMG_DS039567,MONDO:0007395 | SNOMEDCT ID:702362004 | UMLS ID:C1852510 | OMIM ID:122880 | Craniofacial deafness hand syndrome (disorder) | Sommer Young Wee Frye syndrome | MeSH ID:C536453 | DOID:0111336 | craniofacial-deafness-hand syndrome | Craniofacial deafness hand syndrome +BMGC_DS11250,BMG_DS039568,Cranioacrofacial Syndrome | MONDO:0007393 | UMLS ID:C1852512 | MeSH ID:C565147 | OMIM ID:122850 | cranioacrofacial syndrome +BMGC_DS11251,BMG_DS039569,MONDO:0007392 | Coxoauricular Syndrome | MeSH ID:C565148 | OMIM ID:122780 | UMLS ID:C1852513 | coxoauricular syndrome +BMGC_DS11252,BMG_DS039572,OMIM ID:122580 | congenitally short costocoracoid ligament | UMLS ID:C1852523 | MONDO:0007388 +BMGC_DS11253,BMG_DS039573,MONDO:0012675 | corticosteroid-binding globulin deficiency | Corticosteroid-Binding Globulin Deficiency | DOID:0090030 | MeSH ID:C565152 | UMLS ID:C1852529 | OMIM ID:611489 +BMGC_DS11254,BMG_DS039574,"MeSH ID:C565153 | UMLS ID:C1852540 | MONDO:0007385 | Coronary Artery Dissection, Spontaneous | OMIM ID:122455 | idiopathic spontaneous coronary artery dissection" +BMGC_DS11255,BMG_DS039577,Epithelial Recurrent Erosion Dystrophy | epithelial recurrent erosion dystrophy | MeSH ID:C565155 | DOID:0070337 | OMIM ID:122400 | UMLS ID:C1852551 | MONDO:0007381 +BMGC_DS11256,BMG_DS039578,"posterior polymorphous corneal dystrophy | MeSH ID:C562745 | posterior polymorphous corneal dystrophy 1 | OMIM ID:122000 | DOID:0060457 | Corneal Dystrophy, Posterior Polymorphous, 1 | MONDO:0007378 | UMLS ID:C1852555" +BMGC_DS11257,BMG_DS039580,"MONDO:0007372 | OMIM ID:121400 | UMLS ID:C1852557 | cornea plana 1, autosomal dominant" +BMGC_DS11258,BMG_DS039581,OMIM ID:121390 | MeSH ID:C535471 | Cornea guttata with anterior polar cataract | cornea guttata with anterior polar cataracts | UMLS ID:C1852558 | MONDO:0007371 +BMGC_DS11259,BMG_DS039582,"coracoclavicular joint, anomalous | MONDO:0007370 | UMLS ID:C1852561 | OMIM ID:121350" +BMGC_DS11260,BMG_DS039583,"MONDO:0007368 | MeSH ID:C535468 | familial benign copper deficiency | OMIM ID:121270 | Copper deficiency, familial benign | UMLS ID:C1852576" +BMGC_DS11261,BMG_DS039584,"MeSH ID:C565162 | Febrile Convulsions, Familial, 1 | febrile seizures, familial, 1 | OMIM ID:121210 | UMLS ID:C1852577 | MONDO:0007367" +BMGC_DS11262,BMG_DS039585,"MONDO:0007366 | seizures, benign familial neonatal, 2 | OMIM ID:121201 | UMLS ID:C1852581" +BMGC_DS11263,BMG_DS039588,"arthrogryposis, distal, type 2E | Arthrogryposis, distal, type 2E | OMIM ID:121070 | MONDO:0007364 | MeSH ID:C535384 | UMLS ID:C1852597" +BMGC_DS11264,BMG_DS039589,"Complement Component 4, Partial Deficiency Of | MONDO:0007361 | OMIM ID:120790 | MeSH ID:C565168 | C1 inhibitor deficiency | UMLS ID:C1852700" +BMGC_DS11265,BMG_DS039590,OMIM ID:120502 | UMLS ID:C1852718 | MeSH ID:C565171 | Branchiootic Syndrome 2 | MONDO:0007360 | branchiootic syndrome 2 +BMGC_DS11266,BMG_DS039593,coloboma of macula-brachydactyly type B syndrome | UMLS ID:C1852752 | COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY | MONDO:0007353 | OMIM ID:120400 +BMGC_DS11267,BMG_DS039594,renal coloboma syndrome | UMLS ID:C1852759 | Renal coloboma syndrome | MeSH ID:C537168 | Renal coloboma syndrome (disorder) | Papillorenal syndrome | SNOMEDCT ID:446449009 | OMIM ID:120330 | MONDO:0007352 +BMGC_DS11268,BMG_DS039595,coloboma of macula | OMIM ID:120300 | UMLS ID:C1852767 | MONDO:0007351 +BMGC_DS11269,BMG_DS039596,"posterior polymorphous corneal dystrophy 2 | OMIM ID:609140 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 | MONDO:0012199 | UMLS ID:C1852795" +BMGC_DS11270,BMG_DS039598,Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia | vitreoretinopathy with phalangeal epiphyseal dysplasia | MONDO:0031001 | OMIM ID:619248 | MeSH ID:C565179 | UMLS ID:C1852989 +BMGC_DS11271,BMG_DS039599,UMLS ID:C1853099 | MONDO:0012555 | De Lange Syndrome | MeSH ID:D003635 | Cornelia de Lange Syndrome 3 | Cornelia de Lange syndrome 3 | OMIM ID:610759 +BMGC_DS11272,BMG_DS039600,cerebrooculofacioskeletal syndrome 4 | OMIM ID:610758 | MONDO:0012554 | OMIM ID:126380 | CEREBROOCULOFACIOSKELETAL SYNDROME 4 | UMLS ID:C1853100 +BMGC_DS11273,BMG_DS039601,Cerebrooculofacioskeletal Syndrome 2 | cerebrooculofacioskeletal syndrome 2 | MeSH ID:C565185 | MONDO:0012553 | UMLS ID:C1853102 | OMIM ID:610756 | DOID:0080912 +BMGC_DS11274,BMG_DS039602,ALOPECIA AREATA 2 | MONDO:0012551 | OMIM ID:610753 | alopecia areata 2 | UMLS ID:C1853104 +BMGC_DS11275,BMG_DS039604,"MeSH ID:C565188 | MONDO:0012549 | UMLS ID:C1853116 | DOID:0111618 | autosomal recessive spinocerebellar ataxia 8 | autosomal recessive ataxia, Beauce type | Spinocerebellar Ataxia, Autosomal Recessive 8 | OMIM ID:610743" +BMGC_DS11276,BMG_DS039605,Severe congenital neutropenia | severe congenital neutropenia | Congenital neutropenia | Congenital neutropenia (disorder) | Severe infantile genetic neutropenia | MONDO:0018542 | Primary neutropenia | OMIM ID:MTHU008417 | SNOMEDCT ID:89655007 | UMLS ID:C1853118 +BMGC_DS11277,BMG_DS039606,OMIM ID:610733 | MONDO:0012547 | Noonan syndrome 4 | MeSH ID:C548082 | Noonan Syndrome 4 | UMLS ID:C1853120 | DOID:0060582 +BMGC_DS11278,BMG_DS039607,"OMIM ID:610725 | nephrotic syndrome, type 3 | OMIM ID:608414 | NEPHROTIC SYNDROME, TYPE 3 | DOID:0080382 | nephrotic syndrome type 3 | UMLS ID:C1853124 | MONDO:0012546" +BMGC_DS11279,BMG_DS039608,Neutral Lipid Storage Disease with Myopathy | neutral lipid storage myopathy | MeSH ID:C565192 | OMIM ID:610717 | MONDO:0012545 | UMLS ID:C1853136 +BMGC_DS11280,BMG_DS039609,brachydactyly-syndactyly syndrome | BRACHYDACTYLY-SYNDACTYLY SYNDROME | MONDO:0012544 | OMIM ID:142989 | OMIM ID:610713 | UMLS ID:C1853137 +BMGC_DS11281,BMG_DS039610,OMIM ID:610708 | UMLS ID:C1853139 | MONDO:0012543 | DOID:0111438 | Optic atrophy 5 | MeSH ID:C537126 | optic atrophy 5 +BMGC_DS11282,BMG_DS039612,"Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia | deafness with labyrinthine aplasia, microtia, and microdontia | UMLS ID:C1853144 | MONDO:0012541 | MeSH ID:C565195 | OMIM ID:610706" +BMGC_DS11283,BMG_DS039613,"OMIM ID:610698 | UMLS ID:C1853147 | MeSH ID:C565196 | Macular Degeneration, Age-Related, 4 | age related macular degeneration 4 | MONDO:0012540" +BMGC_DS11284,BMG_DS039614,OMIM ID:609884 | OMIM ID:610688 | Joubert syndrome 6 | JOUBERT SYNDROME 6 | UMLS ID:C1853153 | MONDO:0012539 +BMGC_DS11285,BMG_DS039615,Nemaline Myopathy 7 | DOID:0110934 | UMLS ID:C1853154 | MONDO:0012538 | MeSH ID:C565198 | OMIM ID:610687 | nemaline myopathy 7 +BMGC_DS11286,BMG_DS039617,Osteogenesis Imperfecta Type VII | OMIM ID:610682 | osteogenesis imperfecta type 7 | MONDO:0012536 | UMLS ID:C1853162 | DOID:0110337 | MeSH ID:C565200 +BMGC_DS11287,BMG_DS039620,Recurrent skin infections | UMLS ID:C1853193 | OMIM ID:MTHU000084 +BMGC_DS11288,BMG_DS039624,MONDO:0012467 | UMLS ID:C1853198 | OMIM ID:610313 | cold-induced sweating syndrome 2 +BMGC_DS11289,BMG_DS039625,"Parkinson disease 13, autosomal dominant, susceptibility to | OMIM ID:610297 | UMLS ID:C1853202 | MONDO:0012466" +BMGC_DS11290,BMG_DS039627,retinitis pigmentosa 35 | MONDO:0012463 | OMIM ID:607292 | UMLS ID:C1853214 | RETINITIS PIGMENTOSA 35 | OMIM ID:610282 +BMGC_DS11291,BMG_DS039628,"MONDO:0012462 | OMIM ID:610279 | MeSH ID:C538092 | autosomal recessive frontotemporal pachygyria | Pachygyria, frontotemporal | UMLS ID:C1853215" +BMGC_DS11292,BMG_DS039629,"autosomal recessive nonsyndromic hearing loss 67 | MONDO:0012460 | Deafness, Autosomal Recessive 67 | UMLS ID:C1853223 | OMIM ID:610265 | MeSH ID:C565207" +BMGC_DS11293,BMG_DS039633,congenital primary aphakia | MONDO:0012456 | OMIM ID:610256 | UMLS ID:C1853230 +BMGC_DS11294,BMG_DS039634,sclerocornea | UMLS ID:C1853235 | OMIM ID:MTHU000241 | Sclerocornea | MeSH ID:C565209 | DOID:0060252 | MONDO:0019629 +BMGC_DS11295,BMG_DS039635,"OMIM ID:610250 | MONDO:0012453 | SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT | hereditary spastic paraplegia 31 | UMLS ID:C1853247 | OMIM ID:609139" +BMGC_DS11296,BMG_DS039636,"OMIM ID:610248 | UMLS ID:C1853248 | MONDO:0012452 | DEAFNESS, AUTOSOMAL RECESSIVE 65 | autosomal recessive nonsyndromic hearing loss 65" +BMGC_DS11297,BMG_DS039637,OMIM ID:604581 | UMLS ID:C1853249 | DOID:0050977 | OMIM ID:610246 | SPINOCEREBELLAR ATAXIA 28 | spinocerebellar ataxia type 28 | MONDO:0012450 +BMGC_DS11298,BMG_DS039638,OMIM ID:610245 | SPINOCEREBELLAR ATAXIA 23 | UMLS ID:C1853250 | spinocerebellar ataxia type 23 | MONDO:0012449 | OMIM ID:131340 | DOID:0050973 +BMGC_DS11299,BMG_DS039639,"hereditary spastic paraplegia 33 | MONDO:0012448 | Spastic Paraplegia 33, Autosomal Dominant | UMLS ID:C1853251 | OMIM ID:610244 | MeSH ID:C565214" +BMGC_DS11300,BMG_DS039642,MeSH ID:C565217 | seborrhea-like dermatitis with psoriasiform elements | Seborrhea-Like Dermatitis with Psoriasiform Elements | MONDO:0012446 | UMLS ID:C1853258 | OMIM ID:610227 +BMGC_DS11301,BMG_DS039643,"OMIM ID:241530 | HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY | MONDO:0009431 | DOID:0050947 | hereditary hypophosphatemic rickets with hypercalciuria | UMLS ID:C1853271 | OMIM ID:609826" +BMGC_DS11302,BMG_DS039644,"MONDO:0012355 | OMIM ID:609823 | MeSH ID:C565218 | UMLS ID:C1853276 | Deafness, Autosomal Recessive 28 | autosomal recessive nonsyndromic hearing loss 28" +BMGC_DS11303,BMG_DS039645,OMIM ID:609821 | MONDO:0012354 | MeSH ID:C565220 | platelet-type bleeding disorder 8 | Bleeding Disorder Due To P2RY12 Defect | UMLS ID:C1853278 +BMGC_DS11304,BMG_DS039646,"MONDO:0012353 | erythrocytosis, familial, 3 | MeSH ID:C565221 | Erythrocytosis, Familial, 3 | OMIM ID:609820 | UMLS ID:C1853286" +BMGC_DS11305,BMG_DS039648,DOID:0111820 | OMIM ID:609815 | MONDO:0012351 | zygodactyly type 1 | zygodactyly 1 | UMLS ID:C1853294 | MeSH ID:C565223 | Zygodactyly 1 +BMGC_DS11306,BMG_DS039649,"MeSH ID:C535781 | MONDO:0010180;MONDO:0012349 | OMIM ID:609813 | UMLS ID:C1853296 | spondylocostal dysostosis 3, autosomal recessive | Spondylocostal Dysostosis 3, Autosomal Recessive | autosomal recessive spondylocostal dysostosis" +BMGC_DS11307,BMG_DS039650,"UMLS ID:C1853297 | OMIM ID:114840 | MONDO:0012348 | DOID:0111105 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION | maturity-onset diabetes of the young type 8 | OMIM ID:609812" +BMGC_DS11308,BMG_DS039651,"MeSH ID:C565226 | OMIM ID:609808 | hamartoma, Precalcaneal congenital fibrolipomatous | Hamartoma, Precalcaneal Congenital Fibrolipomatous | MONDO:0012347 | UMLS ID:C1853298" +BMGC_DS11309,BMG_DS039652,"OMIM ID:609800 | MeSH ID:C565227 | MONDO:0012346 | generalized epilepsy with febrile seizures plus, type 4 | UMLS ID:C1853345 | Generalized Epilepsy With Febrile Seizures Plus, Type 4" +BMGC_DS11310,BMG_DS039653,"Acral peeling skin syndrome | SNOMEDCT ID:709416009 | peeling skin syndrome 2 | UMLS ID:C1853354 | DOID:0070521 | MeSH ID:C536316 | Acral peeling skin syndrome (disorder) | OMIM ID:609796 | acral peeling skin syndrome | Peeling skin syndrome, acral type | MONDO:0012345" +BMGC_DS11311,BMG_DS039656,"aortic aneurysm, familial abdominal, 1 | UMLS ID:C1853365 | MONDO:0024521 | OMIM ID:100070" +BMGC_DS11312,BMG_DS039657,MONDO:0011668 | UMLS ID:C1853371 | OMIM ID:606394 | maturity-onset diabetes of the young type 6 +BMGC_DS11313,BMG_DS039658,mega-cisterna magna | UMLS ID:C1853377 | MONDO:0019953 +BMGC_DS11314,BMG_DS039659,"immunodeficiency 41 | Interleukin 2 Receptor, Alpha, Deficiency of | MONDO:0011664 | UMLS ID:C1853392 | immunodeficiency due to CD25 deficiency | OMIM ID:606367 | MeSH ID:C565232 | DOID:0111968" +BMGC_DS11315,BMG_DS039660,OMIM ID:606353 | Primary lateral sclerosis juvenile | juvenile primary lateral sclerosis | UMLS ID:C1853396 | MONDO:0011663 | MeSH ID:C536416 +BMGC_DS11316,BMG_DS039661,MONDO:0011661 | inflammatory bowel disease 5 | INFLAMMATORY BOWEL DISEASE 5 | OMIM ID:606348 | UMLS ID:C1853438 +BMGC_DS11317,BMG_DS039662,"OMIM ID:606325 | MONDO:0011659 | Heterotaxy, Visceral, 3, Autosomal | heterotaxy, visceral, 3, autosomal | UMLS ID:C1853444 | MeSH ID:C565237" +BMGC_DS11318,BMG_DS039663,"UMLS ID:C1853445 | autosomal recessive early-onset Parkinson disease 7 | DOID:0060370 | OMIM ID:602533 | Parkinson's disease 7 | MONDO:0011658 | OMIM ID:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET" +BMGC_DS11319,BMG_DS039664,"OMIM ID:606282 | MeSH ID:C565239 | autosomal dominant nonsyndromic hearing loss 24 | UMLS ID:C1853451 | Deafness, Autosomal Dominant 24 | MONDO:0011657" +BMGC_DS11320,BMG_DS039665,PAGET DISEASE OF BONE 4 | UMLS ID:C1853473 | MONDO:0011656 | paget disease of bone 4 | DOID:0081367 | OMIM ID:606263 | Paget's disease of bone 4 +BMGC_DS11321,BMG_DS039666,"Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism | intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism | OMIM ID:606242 | MeSH ID:C565246 | UMLS ID:C1853480 | MONDO:0011654" +BMGC_DS11322,BMG_DS039667,22q13.3 Deletion Syndrome | MeSH ID:C536801 | Phelan-McDermid syndrome | UMLS ID:C1853490 | MONDO:0011652 | OMIM ID:606232 +BMGC_DS11323,BMG_DS039668,"MeSH ID:C565248 | OMIM ID:606220 | UMLS ID:C1853507 | intellectual disability, short stature, facial anomalies, and joint dislocations | Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations | MONDO:0011651" +BMGC_DS11324,BMG_DS039669,"MONDO:0011650 | OMIM ID:606217 | atrioventricular septal defect, susceptibility to, 2 | UMLS ID:C1853508" +BMGC_DS11325,BMG_DS039670,"UMLS ID:C1853509 | MeSH ID:C565249 | Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome" +BMGC_DS11326,BMG_DS039677,UMLS ID:C1853566 | MONDO:0011640 | genitopatellar syndrome | OMIM ID:606170 | MeSH ID:C565255 | Genitopatellar Syndrome +BMGC_DS11327,BMG_DS039680,OMIM ID:606159 | SNOMEDCT ID:699299001 | Neuroferritinopathy (disorder) | Ferritin related neurodegeneration | MeSH ID:C548080 | Neuroferritinopathy | MONDO:0011638 | DOID:0110737 | UMLS ID:C1853578 | Adult onset basal ganglia disease | neurodegeneration with brain iron accumulation 3 | neuroferritinopathy +BMGC_DS11328,BMG_DS039682,MONDO:0017579 | MeSH ID:C565258 | UMLS ID:C1853623 | Fryns-Aftimos Syndrome | Baraitser-Winter cerebrofrontofacial syndrome +BMGC_DS11329,BMG_DS039683,"UMLS ID:C1853666 | Diamond-Blackfan anemia 2 | OMIM ID:606129 | Anemia, Diamond-Blackfan, 2 | MONDO:0011636 | DOID:0111885 | MeSH ID:C536130" +BMGC_DS11330,BMG_DS039684,"MeSH ID:C565260 | UMLS ID:C1853686 | MONDO:0011635 | Goiter, Multinodular 3 | OMIM ID:606082 | goiter, multinodular 3" +BMGC_DS11331,BMG_DS039685,Rippling muscle disease | rippling muscle disease | Rippling muscle disease (disorder) | DOID:0070308;DOID:0060255 | rippling muscle disease 2 | Rippling muscle syndrome | rippling muscle disease 1 | MeSH ID:C535686 | SNOMEDCT ID:709281006 | UMLS ID:C1853698 | MONDO:0011634 +BMGC_DS11332,BMG_DS039686,"MeSH ID:C565261 | Charcot-Marie-Tooth disease axonal type 2C | OMIM ID:606071 | UMLS ID:C1853710 | Hereditary Motor And Sensory Neuropathy, Type IIC | MONDO:0011633" +BMGC_DS11333,BMG_DS039687,UMLS ID:C1853723 | distal myopathy with vocal cord weakness | MONDO:0018951 +BMGC_DS11334,BMG_DS039688,"DOID:0111028 | HEMOCHROMATOSIS, TYPE 4 | OMIM ID:606069 | hemochromatosis type 4 | UMLS ID:C1853733 | OMIM ID:604653 | MONDO:0011631" +BMGC_DS11335,BMG_DS039689,"MOGS-congenital disorder of glycosylation | UMLS ID:C1853736 | congenital disorder of glycosylation type IIb | Congenital Disorder Of Glycosylation, Type IIB | MONDO:0011629 | MeSH ID:C565264 | DOID:0070254 | OMIM ID:606056" +BMGC_DS11336,BMG_DS039690,"OMIM ID:604616 | UMLS ID:C1853755 | OMIM ID:606053 | autism, susceptibility to, 5 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY | MONDO:0011627" +BMGC_DS11337,BMG_DS039692,"OMIM ID:606012 | autosomal dominant nonsyndromic hearing loss 18 | MONDO:0011625 | MeSH ID:C565267 | Deafness, Autosomal Dominant 18 | UMLS ID:C1853760" +BMGC_DS11338,BMG_DS039693,"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | UMLS ID:C1853761 | MONDO:0018996 | OMIM ID:606002" +BMGC_DS11339,BMG_DS039695,UMLS ID:C1853800 | MeSH ID:C536853 | Familial Wilms tumor 2 +BMGC_DS11340,BMG_DS039696,SNOMEDCT ID:720412009 | Syndactyly with preaxial polydactyly and sternal deformity syndrome | Acro-pectoral syndrome | acropectoral syndrome | MONDO:0011621 | OMIM ID:605967 | UMLS ID:C1853812 | Acropectoral syndrome (disorder) | MeSH ID:C535664 | Acropectoral syndrome +BMGC_DS11341,BMG_DS039701,UMLS ID:C1853830 | DOID:0110874 | holoprosencephaly 6 | OMIM ID:605934 | Holoprosencephaly 6 | MONDO:0011616 | MeSH ID:C565274 +BMGC_DS11342,BMG_DS039703,"OMIM ID:605909 | MONDO:0011613 | Parkinson Disease 6, Autosomal Recessive Early-Onset | autosomal recessive early-onset Parkinson disease 6 | UMLS ID:C1853833 | MeSH ID:C565276" +BMGC_DS11343,BMG_DS039704,"UMLS ID:C1853863 | MeSH ID:C565277 | Cardiomyopathy, Dilated, with Left Ventricular Noncompaction" +BMGC_DS11344,BMG_DS039705,MeSH ID:C565278 | Dimethylglycine Dehydrogenase Deficiency | MONDO:0011610 | dimethylglycine dehydrogenase deficiency | OMIM ID:605850 | UMLS ID:C1853892 +BMGC_DS11345,BMG_DS039710,"OMIM ID:605827 | Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant | generalized basaloid follicular hamartoma syndrome | MeSH ID:C565284 | MONDO:0011605 | UMLS ID:C1853919" +BMGC_DS11346,BMG_DS039711,"Spondyloocular Syndrome, Autosomal Recessive | UMLS ID:C1853925 | MeSH ID:C565285" +BMGC_DS11347,BMG_DS039712,OMIM ID:603824 | GNE myopathy | UMLS ID:C1853926 | DOID:0080718 | NONAKA MYOPATHY | MONDO:0011603 | OMIM ID:605820 +BMGC_DS11348,BMG_DS039713,"OMIM ID:605818 | DEAFNESS, AUTOSOMAL RECESSIVE 27 | UMLS ID:C1853941 | MONDO:0011602 | autosomal recessive nonsyndromic hearing loss 27" +BMGC_DS11349,BMG_DS039714,"UMLS ID:C1853942 | MONDO:0011601 | neonatal intrahepatic cholestasis due to citrin deficiency | OMIM ID:603859 | DOID:0070341 | OMIM ID:605814 | neonatal-onset type II citrullinemia | CITRULLINEMIA, TYPE II, NEONATAL-ONSET" +BMGC_DS11350,BMG_DS039715,MONDO:0011599 | Birdshot Chorioretinopathy | MeSH ID:D000080365 | OMIM ID:605808 | UMLS ID:C1853959 | birdshot chorioretinopathy | DOID:0111079 +BMGC_DS11351,BMG_DS039716,"atopic dermatitis 4 | MONDO:0011598 | dermatitis, atopic, 4 | UMLS ID:C1853963 | DERMATITIS, ATOPIC, 4 | DOID:0110100 | OMIM ID:605805" +BMGC_DS11352,BMG_DS039718,"MeSH ID:C565293 | UMLS ID:C1853965 | OMIM ID:605803 | Dermatitis, Atopic, 2 | dermatitis, atopic, 2 | MONDO:0011596" +BMGC_DS11353,BMG_DS039720,"MONDO:0011593 | benign familial infantile seizures 2 | DOID:0081115 | seizures, benign familial infantile, 2 | OMIM ID:614386 | OMIM ID:605751 | SEIZURES, BENIGN FAMILIAL INFANTILE, 2 | UMLS ID:C1853995" +BMGC_DS11354,BMG_DS039721,exudative vitreoretinopathy 3 | OMIM ID:605750 | EXUDATIVE VITREORETINOPATHY 3 | UMLS ID:C1854002 | MONDO:0011592 +BMGC_DS11355,BMG_DS039725,"MeSH ID:C565301 | cataract 25 | OMIM ID:605728 | MONDO:0011587 | UMLS ID:C1854021 | Cataract, Central Saccular, With Sutural Opacities" +BMGC_DS11356,BMG_DS039726,otosclerosis 2 | OTOSCLEROSIS 2 | DOID:0060921 | UMLS ID:C1854022 | OMIM ID:605727 | MONDO:0011586 +BMGC_DS11357,BMG_DS039727,"UMLS ID:C1854023 | autosomal recessive distal spinal muscular atrophy 2 | DOID:0111065 | MeSH ID:C535715 | autosomal recessive distal hereditary motor neuronopathy 2 | OMIM ID:605726 | MONDO:0011585 | Spinal muscular atrophy, Jerash type" +BMGC_DS11358,BMG_DS039728,"adult-onset proximal spinal muscular atrophy, autosomal dominant | OMIM ID:182980 | MONDO:0008453 | UMLS ID:C1854058 | OMIM ID:605704 | autosomal dominant adult-onset proximal spinal muscular atrophy | DOID:0111194 | SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE" +BMGC_DS11359,BMG_DS039730,MeSH ID:C535581 | arrhythmogenic cardiomyopathy with wooly hair and keratoderma | Cardiomyopathy dilated with woolly hair and keratoderma | DOID:0090128 | OMIM ID:605676 | MONDO:0011581 | UMLS ID:C1854063 | Carvajal syndrome +BMGC_DS11360,BMG_DS039732,DOID:0060869 | UMLS ID:C1854065 | Late-Onset Retinal Degeneration | OMIM ID:605670 | MONDO:0011579 | late-onset retinal degeneration | MeSH ID:C565309 +BMGC_DS11361,BMG_DS039734,"OMIM ID:605637 | UMLS ID:C1854106 | MONDO:0011577 | myopathy, proximal, and ophthalmoplegia" +BMGC_DS11362,BMG_DS039735,"familial hyperaldosteronism type II | UMLS ID:C1854107 | Hyperaldosteronism, Familial, Type II | MeSH ID:C565312 | MONDO:0011576 | OMIM ID:605635" +BMGC_DS11363,BMG_DS039736,UMLS ID:C1854108 | OMIM ID:605627 | MONDO:0011575 | cerebrooculonasal syndrome | Cerebrooculonasal Syndrome | MeSH ID:C565313 +BMGC_DS11364,BMG_DS039738,"OMIM ID:605606 | UMLS ID:C1854124 | MONDO:0011573 | psoriasis 7, susceptibility to" +BMGC_DS11365,BMG_DS039740,"OMIM ID:605594 | deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | MeSH ID:C565316 | Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 | UMLS ID:C1854146 | MONDO:0011571" +BMGC_DS11366,BMG_DS039741,"Charcot-Marie-Tooth disease type 2B2 | DOID:0110179 | UMLS ID:C1854150 | MONDO:0011570 | Charcot-Marie-Tooth disease, Type 2B2 | OMIM ID:605589 | MeSH ID:C537991" +BMGC_DS11367,BMG_DS039742,"Charcot-Marie-Tooth disease type 2B1 | Charcot-Marie-Tooth disease, Type 2B1 | MONDO:0011569 | UMLS ID:C1854154 | MeSH ID:C537990 | DOID:0110156 | OMIM ID:605588" +BMGC_DS11368,BMG_DS039743,"MeSH ID:C565319 | autosomal dominant nonsyndromic hearing loss 25 | MONDO:0011568 | Deafness, Autosomal Dominant 25 | UMLS ID:C1854158 | OMIM ID:605583" +BMGC_DS11369,BMG_DS039744,"MONDO:0011567 | MeSH ID:C565320 | dilated cardiomyopathy 1K | UMLS ID:C1854159 | OMIM ID:605582 | Cardiomyopathy, Dilated, 1K" +BMGC_DS11370,BMG_DS039745,UMLS ID:C1854170 | abdominal obesity-metabolic syndrome quantitative trait locus 2 | MONDO:0011566 | OMIM ID:605572 +BMGC_DS11371,BMG_DS039746,MONDO:0011564 | OMIM ID:605549 | Cone-Rod Dystrophy 8 | DOID:0111014 | cone-rod dystrophy 8 | UMLS ID:C1854180 | MeSH ID:C565322 +BMGC_DS11372,BMG_DS039748,"autosomal dominant Parkinson disease 4 | Parkinson Disease 4, Autosomal Dominant Lewy Body | OMIM ID:605543 | MeSH ID:C565324 | MONDO:0011562 | UMLS ID:C1854182" +BMGC_DS11373,BMG_DS039749,"UMLS ID:C1854187 | ALZHEIMER DISEASE 6, LATE-ONSET | Alzheimer disease 6 | MONDO:0011561 | OMIM ID:605526" +BMGC_DS11374,BMG_DS039752,Leber Congenital Amaurosis 6 | Leber congenital amaurosis 6 | MeSH ID:C565327 | OMIM ID:613826 | UMLS ID:C1854260 | MONDO:0013446 | DOID:0110329 +BMGC_DS11375,BMG_DS039753,MeSH ID:C565328 | Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia | UMLS ID:C1854273 | radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | MONDO:0011555 +BMGC_DS11376,BMG_DS039754,"autosomal recessive nonsyndromic hearing loss 26 | OMIM ID:604439 | MONDO:0011553 | UMLS ID:C1854275 | OMIM ID:605428 | DEAFNESS, AUTOSOMAL RECESSIVE 26" +BMGC_DS11377,BMG_DS039756,MONDO:0018914 | Hereditary hypotrichosis simplex | Hypotrichosis simplex | MeSH ID:C537160 | UMLS ID:C1854310 | hypotrichosis simplex | Hereditary hypotrichosis simplex (disorder) | SNOMEDCT ID:723362004 +BMGC_DS11378,BMG_DS039757,"MeSH ID:C535343 | cataract 31 multiple types | OMIM ID:605387 | Cataract, posterior polar, 3 | MONDO:0011547 | UMLS ID:C1854311" +BMGC_DS11379,BMG_DS039758,"OMIM ID:605375 | Epilepsy, Nocturnal Frontal Lobe, Type 3 | MONDO:0011545 | autosomal dominant nocturnal frontal lobe epilepsy 3 | UMLS ID:C1854335 | MeSH ID:C565334" +BMGC_DS11380,BMG_DS039759,paragangliomas 3 | UMLS ID:C1854336 | MONDO:0011544 | OMIM ID:605373 | PARAGANGLIOMAS 3 +BMGC_DS11381,BMG_DS039763,"MONDO:0011541 | dilated cardiomyopathy 1J | OMIM ID:605362 | UMLS ID:C1854368 | Cardiomyopathy, Dilated, 1J | MeSH ID:C565337" +BMGC_DS11382,BMG_DS039764,OMIM ID:605361 | MONDO:0011540 | MeSH ID:C537196 | Spinocerebellar ataxia 14 | spinocerebellar ataxia type 14 | UMLS ID:C1854369 +BMGC_DS11383,BMG_DS039765,nemaline myopathy 5 | UMLS ID:C1854380 | MONDO:0011539 | OMIM ID:605355 +BMGC_DS11384,BMG_DS039766,frontoocular syndrome | Frontoocular Syndrome | MONDO:0011538 | UMLS ID:C1854405 | OMIM ID:605321 | MeSH ID:C565340 +BMGC_DS11385,BMG_DS039768,MACROCEPHALY/AUTISM SYNDROME | macrocephaly-autism syndrome | OMIM ID:605309 | UMLS ID:C1854416 | MONDO:0011537 | OMIM ID:601728 +BMGC_DS11386,BMG_DS039769,MeSH ID:C565343 | MONDO:0011536 | Optic Atrophy 4 | DOID:0111440 | optic atrophy 4 | OMIM ID:605293 | UMLS ID:C1854430 +BMGC_DS11387,BMG_DS039770,UMLS ID:C1854442 | split hand-foot malformation 4 | OMIM ID:605289 | SPLIT-HAND/FOOT MALFORMATION 4 | MONDO:0011535 | OMIM ID:603273 +BMGC_DS11388,BMG_DS039771,"Charcot-Marie-Tooth disease type 4G | UMLS ID:C1854449 | MONDO:0011534 | MeSH ID:C535813 | OMIM ID:605285 | Neuropathy, hereditary motor and sensory, Russe type" +BMGC_DS11389,BMG_DS039772,Tuberous Sclerosis 1 | OMIM ID:191100 | DOID:0080324 | tuberous sclerosis 1 | MeSH ID:C565346 | MONDO:0008612 | UMLS ID:C1854465 +BMGC_DS11390,BMG_DS039773,SNOMEDCT ID:777998000 | OMIM ID:605282 | UMLS ID:C1854466 | MONDO:0011533 | DOID:0050814 | Temtamy preaxial brachydactyly syndrome (disorder) | Temtamy preaxial brachydactyly syndrome | MeSH ID:C536958 | temtamy preaxial brachydactyly syndrome +BMGC_DS11391,BMG_DS039774,"UMLS ID:C1854467 | OMIM ID:605280 | MeSH ID:C537485 | Spastic paraplegia 13, autosomal dominant | hereditary spastic paraplegia 13 | MONDO:0011532" +BMGC_DS11392,BMG_DS039775,OMIM ID:605275 | DOID:0060580 | Noonan syndrome 2 | MONDO:0011531 | Noonan Syndrome 2 | UMLS ID:C1854469 | MeSH ID:C548081 +BMGC_DS11393,BMG_DS039776,"mesomelic dysplasia, Savarirayan type | Mesomelic Dysplasia, Savarirayan Type | MONDO:0011530 | MeSH ID:C565349 | UMLS ID:C1854470 | OMIM ID:605274" +BMGC_DS11394,BMG_DS039777,Spinocerebellar ataxia 13 | OMIM ID:605259 | MeSH ID:C537195 | MONDO:0011529 | UMLS ID:C1854488 | spinocerebellar ataxia type 13 +BMGC_DS11395,BMG_DS039778,"MONDO:0011525 | Carney Complex, Type 2 | UMLS ID:C1854540 | MeSH ID:D056733 | DOID:0050471 | OMIM ID:605244 | Carney complex | Carney Complex | Carney complex type 2" +BMGC_DS11396,BMG_DS039779,"MONDO:0011522 | MeSH ID:C537486 | Spastic paraplegia 14, autosomal recessive | UMLS ID:C1854568 | OMIM ID:605229 | hereditary spastic paraplegia 14" +BMGC_DS11397,BMG_DS039781,"MONDO:0011520 | systemic lupus erythematosus, susceptibility to, 2 | UMLS ID:C1854577 | OMIM ID:605218" +BMGC_DS11398,BMG_DS039782,"autosomal dominant nonsyndromic hearing loss 23 | DEAFNESS, AUTOSOMAL DOMINANT 23 | OMIM ID:605192 | MONDO:0011519 | UMLS ID:C1854594 | OMIM ID:601205" +BMGC_DS11399,BMG_DS039783,"Wiedemann Steiner syndrome | MONDO:0011518 | Hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome | SNOMEDCT ID:763618001 | OMIM ID:605130 | Wiedemann-Steiner syndrome | UMLS ID:C1854630 | Wiedemann Steiner syndrome (disorder)" +BMGC_DS11400,BMG_DS039784,"OMIM ID:605115 | MeSH ID:C565359 | MONDO:0011517 | UMLS ID:C1854631 | Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy | pseudohyperaldosteronism type 2" +BMGC_DS11401,BMG_DS039786,"MONDO:0009674 | MeSH ID:C565361 | OMIM ID:253590 | Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy | UMLS ID:C1854646 | muscular dystrophy, adult-onset, with leukoencephalopathy" +BMGC_DS11402,BMG_DS039788,LETHAL CONGENITAL CONTRACTURE SYNDROME 1 | UMLS ID:C1854664 | DOID:0060559 | OMIM ID:253310 | lethal congenital contracture syndrome 1 | MONDO:0009670 | OMIM ID:603371 +BMGC_DS11403,BMG_DS039789,"MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | OMIM ID:100730 | MONDO:0009668 | OMIM ID:253290 | lethal multiple pterygium syndrome | OMIM ID:100720 | OMIM ID:100690 | UMLS ID:C1854678" +BMGC_DS11404,BMG_DS039795,MeSH ID:C565367 | UMLS ID:C1854896 | GNPTG-mucolipidosis | DOID:0080678 | OMIM ID:252605 | mucolipidosis III gamma | MONDO:0009652 | Mucolipidosis III Gamma +BMGC_DS11405,BMG_DS039798,MONDO:0009646 | MeSH ID:C565370 | monosomy 7 myelodysplasia and leukemia syndrome 1 | Monosomy 7 of Bone Marrow | UMLS ID:C1854978 | OMIM ID:252270 +BMGC_DS11406,BMG_DS039799,MONDO:0009645 | OMIM ID:252250 | UMLS ID:C1854982 | chronic mucocutaneous candidiasis due to monocyte chemotactic disorder | MeSH ID:C565371 | Monocyte Chemotactic Disorder +BMGC_DS11407,BMG_DS039800,"DOID:0111164 | molybdenum cofactor deficiency type A | UMLS ID:C1854988 | Molybdenum Cofactor Deficiency, Complementation Group A | MeSH ID:C565372 | sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | MONDO:0009643 | OMIM ID:252150" +BMGC_DS11408,BMG_DS039801,"DOID:0111163 | MeSH ID:C565373 | molybdenum cofactor deficiency type B | Molybdenum Cofactor Deficiency, Complementation Group B | OMIM ID:252160 | UMLS ID:C1854989 | MONDO:0009644 | sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" +BMGC_DS11409,BMG_DS039802,"UMLS ID:C1854990 | OMIM ID:615501 | DOID:0111166 | MONDO:0014212 | Molybdenum Cofactor Deficiency, Complementation Group C | molybdenum cofactor deficiency type C | MeSH ID:C565374 | sulfite oxidase deficiency due to molybdenum cofactor deficiency type C" +BMGC_DS11410,BMG_DS039803,Mitochondrial Complex II Deficiency | UMLS ID:C1855008 | DOID:0060537 | mitochondrial complex II deficiency | MeSH ID:C565375 +BMGC_DS11411,BMG_DS039805,OMIM ID:251950 | UMLS ID:C1855033 | Mitochondrial myopathy with lactic acidosis | MeSH ID:C537476 | mitochondrial myopathy-lactic acidosis-deafness syndrome | MONDO:0016825 +BMGC_DS11412,BMG_DS039806,UMLS ID:C1855034 | OMIM ID:251945 | mitochondrial myopathy with a defect in mitochondrial-protein transport | MONDO:0009638 | MeSH ID:C565376 | Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport +BMGC_DS11413,BMG_DS039808,"MONDO:0009631 | OMIM ID:251600 | UMLS ID:C1855052 | isolated microphthalmia 1 | MICROPHTHALMIA, ISOLATED 1" +BMGC_DS11414,BMG_DS039809,"MONDO:0009630 | Microphthalmia, Isolated, with Coloboma 4 | microphthalmia, isolated, with coloboma 4 | MeSH ID:C565378 | UMLS ID:C1855053 | OMIM ID:251505" +BMGC_DS11415,BMG_DS039811,UMLS ID:C1855057 | OMIM ID:251260 | ATAXIA-TELANGIECTASIA VARIANT V2 +BMGC_DS11416,BMG_DS039813,UMLS ID:C1855078 | Say-Barber-Miller syndrome | Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia | MONDO:0009620 | OMIM ID:251240 | MeSH ID:C565381 +BMGC_DS11417,BMG_DS039814,UMLS ID:C1855079 | microcephaly-micromelia syndrome | Microcephaly-Micromelia Syndrome | MONDO:0009619 | MeSH ID:C565382 | OMIM ID:251230 +BMGC_DS11418,BMG_DS039815,OMIM ID:251220 | Winship Viljoen Leary syndrome | microcephaly-cardiomyopathy syndrome | UMLS ID:C1855080 | Microcephaly cardiomyopathy syndrome | Microcephalus cardiomyopathy syndrome | MONDO:0009618 | Microcephalus cardiomyopathy syndrome (disorder) | MeSH ID:C536711 | SNOMEDCT ID:719380003 +BMGC_DS11419,BMG_DS039816,"MONDO:0009617 | OMIM ID:251200 | UMLS ID:C1855081 | microcephaly 1, primary, autosomal recessive" +BMGC_DS11420,BMG_DS039818,OMIM ID:251120 | methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | Methylmalonyl-CoA Epimerase Deficiency | MONDO:0009615 | UMLS ID:C1855100 | MeSH ID:C565386 +BMGC_DS11421,BMG_DS039820,"Methylmalonic aciduria cblB type | MeSH ID:C537361 | OMIM ID:251110 | MONDO:0009614 | UMLS ID:C1855102 | methylmalonic aciduria, cblB type" +BMGC_DS11422,BMG_DS039821,"Methylmalonic aciduria cblA type | UMLS ID:C1855109 | MeSH ID:C537360 | methylmalonic aciduria, cblA type | OMIM ID:251100 | MONDO:0009613" +BMGC_DS11423,BMG_DS039822,MONDO:0009612 | UMLS ID:C1855114 | DOID:0060740 | OMIM ID:251000 | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MeSH ID:C565390 +BMGC_DS11424,BMG_DS039823,"Methylmalonic Aciduria, mut(0) Type | DOID:0060740 | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | UMLS ID:C1855115 | MeSH ID:C565390" +BMGC_DS11425,BMG_DS039824,"Methylmalonic Aciduria, mut(-) Type | DOID:0060740 | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | UMLS ID:C1855116 | MeSH ID:C565390" +BMGC_DS11426,BMG_DS039825,UMLS ID:C1855119 | OMIM ID:MTHU037634 | Methylmalonic aciduria +BMGC_DS11427,BMG_DS039826,MeSH ID:C565393 | 3-methylglutaconic aciduria type 4 | OMIM ID:250951 | MONDO:0009611 | UMLS ID:C1855126 | 3-Methylglutaconic Aciduria Type IV | DOID:0110006 +BMGC_DS11428,BMG_DS039827,"MONDO:0009609 | Methylcobalamin Deficiency, CblG Type | OMIM ID:250940 | methylcobalamin deficiency type cblG | MeSH ID:C565394 | UMLS ID:C1855128" +BMGC_DS11429,BMG_DS039828,"UMLS ID:C1855164 | MONDO:0009602 | OMIM ID:250500 | MeSH ID:C535875 | Roy Maroteaux Kremp syndrome | metaphyseal modeling abnormality, skin lesions, and spastic paraplegia" +BMGC_DS11430,BMG_DS039830,"MONDO:0009599 | UMLS ID:C1855175 | metaphyseal dysostosis-intellectual disability-conductive deafness syndrome | Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness | OMIM ID:250420 | MeSH ID:C565396" +BMGC_DS11431,BMG_DS039831,early-onset anterior polar cataract | UMLS ID:C1855179 | MONDO:0020373 +BMGC_DS11432,BMG_DS039832,MeSH ID:C565398 | metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | UMLS ID:C1855188 | Metaphyseal Chondrodysplasia with Retinitis Pigmentosa | OMIM ID:250410 | MONDO:0009598 +BMGC_DS11433,BMG_DS039833,"Metaphyseal Chondrodysplasia, Pena Type | MeSH ID:C565399 | MONDO:0009596 | OMIM ID:250300 | UMLS ID:C1855195 | metaphyseal chondrodysplasia, Pena type" +BMGC_DS11434,BMG_DS039835,"OMIM ID:250220 | MONDO:0009593 | DOID:0112298 | Spondylometaphyseal dysplasia, Sedaghatian type | spondylometaphyseal dysplasia, Sedaghatian type | UMLS ID:C1855229 | MeSH ID:C535798 | spondylometaphyseal dysplasia Sedaghatian type" +BMGC_DS11435,BMG_DS039837,MeSH ID:C565403 | Pseudoarylsulfatase A Deficiency | UMLS ID:C1855255 +BMGC_DS11436,BMG_DS039838,MONDO:0009589 | mesomelic dwarfism-cleft palate-camptodactyly syndrome | MeSH ID:C565404 | UMLS ID:C1855273 | Mesomelic Limb Shortening and Bowing | OMIM ID:249710 +BMGC_DS11437,BMG_DS039841,"MONDO:0009580 | OMIM ID:249500 | UMLS ID:C1855304 | intellectual disability, autosomal recessive 1" +BMGC_DS11438,BMG_DS039842,Ter Haar syndrome | DOID:0111789 | MeSH ID:C537274 | SNOMEDCT ID:720958002 | OMIM ID:249420 | Frank-Ter Haar syndrome | UMLS ID:C1855305 | OMIM ID:211170 | Frank-Ter Haar syndrome (disorder) | MONDO:0009579 +BMGC_DS11439,BMG_DS039843,MeSH ID:C565408 | megalencephaly with dysmyelination | Megalencephaly with Dysmyelination | MONDO:0009574 | OMIM ID:249240 | UMLS ID:C1855309 +BMGC_DS11440,BMG_DS039844,UMLS ID:C1855310 | MeSH ID:C536140 | Megaepiphyseal dwarfism | OMIM ID:249230 | megaepiphyseal dwarfism | MONDO:0009573 +BMGC_DS11441,BMG_DS039846,OMIM ID:248900 | OMIM ID:608181 | MAST SYNDROME | UMLS ID:C1855346 | MONDO:0009568 | mast syndrome +BMGC_DS11442,BMG_DS039850,"UMLS ID:C1855369 | maple syrup urine disease type 1A | OMIM ID:248600 | Maple Syrup Urine Disease, Type IA | MeSH ID:C535710 | MONDO:0023691" +BMGC_DS11443,BMG_DS039851,"UMLS ID:C1855371 | MONDO:0023693 | maple syrup urine disease type 2 | MAPLE SYRUP URINE DISEASE, TYPE II | OMIM ID:620699 | OMIM ID:248610" +BMGC_DS11444,BMG_DS039855,OMIM ID:248450 | MONDO:0009560 | oculotrichoanal syndrome | UMLS ID:C1855425 | Marles Greenberg Persaud syndrome | MeSH ID:C536022 +BMGC_DS11445,BMG_DS039857,"UMLS ID:C1855433 | Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive | MONDO:0009558 | MeSH ID:C535707 | Treacher Collins syndrome 3 | OMIM ID:248390" +BMGC_DS11446,BMG_DS039859,"MONDO:0009551 | magnesium, elevated red cell | UMLS ID:C1855464 | OMIM ID:248260" +BMGC_DS11447,BMG_DS039860,severe early-childhood-onset retinal dystrophy | UMLS ID:C1855465 | Stargardt Disease | MONDO:0009549 | OMIM ID:248200 | Stargardt Disease 1 | Stargardt disease | MeSH ID:D000080362 | DOID:0050817 +BMGC_DS11448,BMG_DS039861,"Hypomagnesemia 5, Renal, with Ocular Involvement | MeSH ID:C565423 | UMLS ID:C1855466" +BMGC_DS11449,BMG_DS039864,"OMIM ID:247800 | UMLS ID:C1855470 | lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis | MeSH ID:C565427 | MONDO:0009541 | Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis" +BMGC_DS11450,BMG_DS039865,Lymphokine Deficiency | OMIM ID:247650 | chronic mucocutaneous candidiasis due to lymphokine deficiency | MONDO:0009540 | MeSH ID:C565428 | UMLS ID:C1855471 +BMGC_DS11451,BMG_DS039866,"lymphoblastic leukemia, acute, with lymphomatous features | OMIM ID:247640 | MONDO:0009539 | UMLS ID:C1855472" +BMGC_DS11452,BMG_DS039868,"chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation | Lymphoblastic Transformation, Intrinsic Defect in | OMIM ID:247450 | UMLS ID:C1855474 | MeSH ID:C565431 | MONDO:0009536" +BMGC_DS11453,BMG_DS039870,OMIM ID:247430 | UMLS ID:C1855476 | MONDO:0009534 | chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation +BMGC_DS11454,BMG_DS039871,Lymphedema hypoparathyroidism syndrome (disorder) | Dahlberg syndrome | OMIM ID:247410 | Lymphoedema hypoparathyroidism syndrome | Dahlberg Borer Newcomer syndrome | MONDO:0009533 | Lymphedema hypoparathyroidism syndrome | MeSH ID:C535769 | SNOMEDCT ID:721083007 | UMLS ID:C1855477 | Dahlberg-Borer-Newcomer syndrome +BMGC_DS11455,BMG_DS039872,"UMLS ID:C1855498 | MONDO:0009527 | Lipase deficiency combined | OMIM ID:246650 | MeSH ID:C535904 | lipase deficiency, combined" +BMGC_DS11456,BMG_DS039873,"MONDO:0009526 | Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome | MeSH ID:C565436 | fibular aplasia, tibial campomelia, and oligosyndactyly syndrome | OMIM ID:246570 | UMLS ID:C1855499" +BMGC_DS11457,BMG_DS039874,"UMLS ID:C1855501 | intellectual disability-spasticity-ectrodactyly syndrome | OMIM ID:246555 | MONDO:0009524 | Limb Defects, Distal Transverse, with Mental Retardation and Spasticity | MeSH ID:C565438" +BMGC_DS11458,BMG_DS039876,"MeSH ID:C565440 | OMIM ID:246500 | Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis | MONDO:0009522 | UMLS ID:C1855504 | Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome" +BMGC_DS11459,BMG_DS039877,"OMIM ID:246470 | leukemia, acute myelocytic, with polyposis coli and colon cancer | UMLS ID:C1855505 | MONDO:0009521" +BMGC_DS11460,BMG_DS039878,"OMIM ID:246000 | Leg, Absence Deformity of, with Congenital Cataract | absence deformity of leg-cataract syndrome | MONDO:0009516 | MeSH ID:C565442 | UMLS ID:C1855523" +BMGC_DS11461,BMG_DS039879,"OMIM ID:245650 | Larsen like syndrome, lethal type | MeSH ID:C537872 | UMLS ID:C1855535 | MONDO:0009512 | lethal Larsen-like syndrome" +BMGC_DS11462,BMG_DS039880,UMLS ID:C1855548 | MeSH ID:C537871 | Laron syndrome type 2 +BMGC_DS11463,BMG_DS039881,UMLS ID:C1855550 | MeSH ID:C537549 | Lambotte syndrome | MONDO:0009508 | OMIM ID:245552 +BMGC_DS11464,BMG_DS039882,"UMLS ID:C1855551 | MeSH ID:C538396 | OMIM ID:245550 | Lambert syndrome | Branchial dysplasia, intellectual disability, inguinal hernia syndrome | SNOMEDCT ID:732961003 | MONDO:0009507 | Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)" +BMGC_DS11465,BMG_DS039883,UMLS ID:C1855552 | MeSH ID:C565446 | Lactic Aciduria due to D-Lactic Acid +BMGC_DS11466,BMG_DS039884,Pyruvate Dehydrogenase E3-Binding Protein Deficiency | pyruvate dehydrogenase E3-binding protein deficiency | MeSH ID:C565447 | MONDO:0009503 | UMLS ID:C1855553 | OMIM ID:245349 +BMGC_DS11467,BMG_DS039885,Pyruvate Dehydrogenase E2 Deficiency | MONDO:0009502 | OMIM ID:245348 | UMLS ID:C1855565 | MeSH ID:C565448 | pyruvate dehydrogenase E2 deficiency +BMGC_DS11468,BMG_DS039886,MONDO:0009501 | metabolic myopathy due to lactate transporter defect | Erythrocyte Lactate Transporter Defect | OMIM ID:245340 | UMLS ID:C1855577 | MeSH ID:C565449 +BMGC_DS11469,BMG_DS039887,"MONDO:0009500 | KURU, SUSCEPTIBILITY TO | OMIM ID:245300 | kuru, susceptibility to | UMLS ID:C1855588" +BMGC_DS11470,BMG_DS039890,"OMIM ID:245150 | Keutel syndrome | MONDO:0009495 | Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome | UMLS ID:C1855607 | Keutel syndrome (disorder) | MeSH ID:C536167 | SNOMEDCT ID:724208006" +BMGC_DS11471,BMG_DS039892,Haim-Munk syndrome | UMLS ID:C1855627 | HAIM-MUNK SYNDROME | OMIM ID:602365 | OMIM ID:245010 | MONDO:0009491 +BMGC_DS11472,BMG_DS039893,"mal de Meleda | DOID:0060862 | MeSH ID:C565454 | UMLS ID:C1855644 | Keratoderma, Palmoplantar, Norrbotten Recessive Type" +BMGC_DS11473,BMG_DS039894,UMLS ID:C1855645 | MeSH ID:C536151 | OMIM ID:244600 | MONDO:0009488 | Keratoconus posticus circumscriptus | keratoconus posticus circumscriptus +BMGC_DS11474,BMG_DS039897,"OMIM ID:244460 | UMLS ID:C1855648 | MONDO:0009486 | autosomal recessive Kenny-Caffey syndrome | Kenny-Caffey syndrome type 1 | OMIM ID:604934 | KENNY-CAFFEY SYNDROME, TYPE 1 | DOID:0080722" +BMGC_DS11475,BMG_DS039898,"oculocerebrofacial syndrome, Kaufman type | Kaufman oculocerebrofacial syndrome | OMIM ID:244450 | MeSH ID:C537013 | Oculocerebrofacial syndrome Kaufman type (disorder) | SNOMEDCT ID:722056009 | UMLS ID:C1855663 | DOID:0111456 | MONDO:0009485 | Oculocerebrofacial syndrome Kaufman type" +BMGC_DS11476,BMG_DS039899,OMIM ID:243910 | MONDO:0009480 | Joubert syndrome with oculorenal defect (disorder) | Joubert syndrome with oculorenal defect | Cerebello-oculo-renal syndrome | Arima syndrome | SNOMEDCT ID:721862000 | MeSH ID:C537430 | UMLS ID:C1855675 +BMGC_DS11477,BMG_DS039900,"MONDO:0009728 | Nephronophthisis, familial juvenile | MeSH ID:C537699 | OMIM ID:256100 | nephronophthisis 1 | UMLS ID:C1855681" +BMGC_DS11478,BMG_DS039901,MONDO:0009477 | UMLS ID:C1855705 | OMIM ID:616369 | Stromme syndrome | OMIM ID:243605 | Jejunal Atresia with Microcephaly and Ocular Anomalies | MeSH ID:C565460 +BMGC_DS11479,BMG_DS039902,"UMLS ID:C1855714 | MONDO:0009474 | isovaleric acid, inability to smell | OMIM ID:243450" +BMGC_DS11480,BMG_DS039903,"MONDO:0009471 | Intrinsic Factor and R Binder, Combined Congenital Deficiency of | OMIM ID:243320 | intrinsic factor and r binder, combined congenital deficiency of | UMLS ID:C1855721 | MeSH ID:C565461" +BMGC_DS11481,BMG_DS039904,MONDO:0009470 | UMLS ID:C1855722 | BARAITSER-WINTER SYNDROME 1 | Baraitser-Winter syndrome 1 | DOID:0081112 | OMIM ID:243310 | OMIM ID:102630 +BMGC_DS11482,BMG_DS039905,Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth | UMLS ID:C1855732 | OMIM ID:243185 | MONDO:0009467 | MeSH ID:C538341 | natal teeth-intestinal pseudoobstruction-patent ductus syndrome +BMGC_DS11483,BMG_DS039906,"MeSH ID:C537394 | OMIM ID:243180 | MONDO:8000011 | Neuronal intestinal pseudoobstruction | visceral neuropathy, familial, 1, autosomal recessive | UMLS ID:C1855733" +BMGC_DS11484,BMG_DS039907,UMLS ID:C1855735 | OMIM ID:243110 | immunodeficiency with defective T-cell response to interleukin 1 | MONDO:0009464 | IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1 +BMGC_DS11485,BMG_DS039908,"MONDO:0009463 | internal carotid arteries, hypoplasia of | UMLS ID:C1855736 | OMIM ID:243100" +BMGC_DS11486,BMG_DS039909,"MONDO:0009462 | Inosine Phosphorylase Deficiency, Immune Defect Due To | inosine phosphorylase deficiency, immune defect due to | MeSH ID:C565465 | OMIM ID:243080 | UMLS ID:C1855737" +BMGC_DS11487,BMG_DS039910,indolylacroyl glycinuria with intellectual disability | OMIM ID:243050 | Indolylacroyl Glycinuria with Mental Retardation | MONDO:0009460 | UMLS ID:C1855738 | MeSH ID:C565466 +BMGC_DS11488,BMG_DS039911,"channelopathy-associated congenital insensitivity to pain, autosomal recessive | UMLS ID:C1855739 | MeSH ID:C565467 | Indifference to Pain, Congenital, Autosomal Recessive | OMIM ID:243000 | MONDO:0009459" +BMGC_DS11489,BMG_DS039912,"UMLS ID:C1855761 | MONDO:0009457 | immunoglobulin d level in plasma, low | OMIM ID:242890" +BMGC_DS11490,BMG_DS039915,Vici syndrome | OMIM ID:242840 | MeSH ID:C535566 | UMLS ID:C1855772 | DOID:0060356 | Absent corpus callosum cataract immunodeficiency | MONDO:0009452 +BMGC_DS11491,BMG_DS039916,"UMLS ID:C1855786 | MONDO:0009447 | ichthyosis, split hairs, and amino aciduria | OMIM ID:242550 | MeSH ID:C565471 | Ichthyosis, Split Hairs, and Amino Aciduria" +BMGC_DS11492,BMG_DS039917,"MeSH ID:C536274 | OMIM ID:242530 | UMLS ID:C1855787 | ichthyosis-intellectual disability-dwarfism-renal impairment syndrome | Ichthyosis, mental retardation, dwarfism, and renal impairment | MONDO:0009446" +BMGC_DS11493,BMG_DS039918,OMIM ID:242510 | UMLS ID:C1855788 | MeSH ID:C537364 | MONDO:0009444 | ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome | Jagell Holmgren Hofer syndrome +BMGC_DS11494,BMG_DS039919,Self-Healing Collodion Baby | UMLS ID:C1855789 | MeSH ID:C565473 | MONDO:0017267 | self-healing collodion baby +BMGC_DS11495,BMG_DS039920,"UMLS ID:C1855793 | Hypouricemia, Hypercalcinuria, and Decreased Bone Density | MONDO:0009438 | MeSH ID:C565475 | hypouricemia, hypercalcinuria, and decreased bone density | OMIM ID:242050" +BMGC_DS11496,BMG_DS039921,MeSH ID:C537901 | UMLS ID:C1855794 | Bamforth syndrome | Bamforth-Lazarus syndrome | MONDO:0009437 | OMIM ID:241850 +BMGC_DS11497,BMG_DS039922,"DOID:0111981 | hypoproteinemia, hypercatabolic | OMIM ID:241600 | UMLS ID:C1855796 | MeSH ID:C565476 | Hypoproteinemia, Hypercatabolic | immunodeficiency 43 | MONDO:0009434" +BMGC_DS11498,BMG_DS039925,"OMIM ID:241410 | Richardson Kirk syndrome | SNOMEDCT ID:1197148005 | SSS - Sanjad Sakati syndrome | MONDO:0009426 | Sanjad Sakati syndrome (disorder) | Hypoparathyroidism, short stature, intellectual disability, seizures syndrome | Hypoparathyroidism, intellectual disability, dysmorphism syndrome | Sanjad Sakati syndrome | UMLS ID:C1855840 | DOID:0060348 | hypoparathyroidism-retardation-dysmorphism syndrome" +BMGC_DS11499,BMG_DS039927,hypomandibular faciocranial dysostosis | OMIM ID:241310 | MONDO:0009425 | UMLS ID:C1855848 +BMGC_DS11500,BMG_DS039928,"Bartter disease type 2 | MeSH ID:C537651 | MONDO:0009424 | Bartter syndrome, antenatal , type 2 | OMIM ID:241200 | UMLS ID:C1855849" +BMGC_DS11501,BMG_DS039929,UMLS ID:C1855856 | MONDO:0009422 | MeSH ID:C565481 | Hypohidrosis with Abnormal Palmar Dermal Ridges | OMIM ID:241120 | hypohidrosis with abnormal palmar dermal Ridges +BMGC_DS11502,BMG_DS039930,MONDO:0009418 | UMLS ID:C1855858 | MeSH ID:C565482 | hypogonadism with low-grade mental deficiency and microcephaly | Hypogonadism with Low-Grade Mental Deficiency and Microcephaly | OMIM ID:241000 +BMGC_DS11503,BMG_DS039931,HYPOGONADISM-CATARACT SYNDROME | hypergonadotropic hypogonadism-cataract syndrome | OMIM ID:240950 | UMLS ID:C1855859 | MONDO:0009417 +BMGC_DS11504,BMG_DS039932,"glycogen storage disorder due to hepatic glycogen synthase deficiency | UMLS ID:C1855861 | MONDO:0009414 | MeSH ID:C565485 | OMIM ID:240600 | Glycogen Storage Disease 0, Liver" +BMGC_DS11505,BMG_DS039933,"UMLS ID:C1855868 | Polyglandular Deficiency Syndrome, Persian-Jewish Type | MeSH ID:C538275" +BMGC_DS11506,BMG_DS039934,"Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant | MeSH ID:C538275 | UMLS ID:C1855869" +BMGC_DS11507,BMG_DS039936,"UMLS ID:C1855884 | hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase | OMIM ID:240000 | MeSH ID:C565489 | Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase | MONDO:0009408" +BMGC_DS11508,BMG_DS039937,MeSH ID:C565490 | UMLS ID:C1855885 | OMIM ID:239900 | hypertrophic neuropathy and cataract | Hypertrophic Neuropathy And Cataract | MONDO:0009407 +BMGC_DS11509,BMG_DS039938,UMLS ID:C1855900 | Macias-Flores Garcia-Cruz Rivera syndrome | Congenital generalised hypertrichosis Macias-Flores type | X-linked congenital generalised hypertrichosis | X-linked congenital generalized hypertrichosis (disorder) | Congenital generalized hypertrichosis Macias-Flores type | SNOMEDCT ID:1010628009 | X-linked congenital generalized hypertrichosis +BMGC_DS11510,BMG_DS039939,"MONDO:0009405 | Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy | OMIM ID:239840 | MeSH ID:C565492 | UMLS ID:C1855902 | cervical hypertrichosis-peripheral neuropathy syndrome" +BMGC_DS11511,BMG_DS039940,hypertelorism and tetralogy of fallot | MeSH ID:C538386 | OMIM ID:239711 | Hypertelorism and tetralogy of Fallot | MONDO:0009403 | UMLS ID:C1855903 +BMGC_DS11512,BMG_DS039941,MeSH ID:C538332 | UMLS ID:C1855904 | OMIM ID:239710 | MONDO:0009402 | Naguib-Richieri-Costa syndrome | acrofrontofacionasal dysostosis 2 +BMGC_DS11513,BMG_DS039943,hyperphosphatasia-intellectual disability syndrome | SNOMEDCT ID:33982008 | Hyperphosphatasaemia with mental retardation | DOID:0070431 | hyperphosphatasia with impaired intellectual development syndrome | MONDO:0016596 | Hyperphosphatasemia with mental retardation | Hyperphosphatasaemia with intellectual disability | Hyperphosphatasemia with intellectual disability | Mabry syndrome | Hyperphosphatasemia with intellectual disability (disorder) | Hyperphosphatasia with seizures and neurologic deficit | UMLS ID:C1855923 +BMGC_DS11514,BMG_DS039944,"MONDO:0009396 | Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria | MeSH ID:C565496 | hyperparathyroidism, neonatal self-limited primary, with hypercalciuria | OMIM ID:239199 | UMLS ID:C1855924" +BMGC_DS11515,BMG_DS039945,"hyperopia, high | OMIM ID:238950 | UMLS ID:C1855925 | MONDO:0009392" +BMGC_DS11516,BMG_DS039947,hyperlysinemia due to defect in lysine transport into mitochondria | UMLS ID:C1855927 | OMIM ID:238710 | MeSH ID:C565499 | Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria | MONDO:0009389 +BMGC_DS11517,BMG_DS039948,MONDO:0009386 | hyperlexia | OMIM ID:238350 | UMLS ID:C1855928 +BMGC_DS11518,BMG_DS039949,UMLS ID:C1855986 | OMIM ID:236900 | MONDO:0009373 | seizures-intellectual disability due to hydroxylysinuria syndrome +BMGC_DS11519,BMG_DS039950,L-2-HYDROXYGLUTARIC ACIDURIA | OMIM ID:236792 | DOID:0050574 | UMLS ID:C1855995 | L-2-hydroxyglutaric aciduria | OMIM ID:609584 | MONDO:0009370 +BMGC_DS11520,BMG_DS039952,HYDROLETHALUS SYNDROME 1 | UMLS ID:C1856016 | hydrolethalus syndrome 1 | MONDO:0009365 | OMIM ID:236680 | OMIM ID:610693 +BMGC_DS11521,BMG_DS039953,"MeSH ID:C535770 | Daish Hardman Lamont syndrome | hydrocephaly-tall stature-joint laxity syndrome | SNOMEDCT ID:732926009 | OMIM ID:236660 | MONDO:0009363 | UMLS ID:C1856051 | Hydrocephalus, tall stature, joint laxity syndrome (disorder) | Hydrocephalus, tall stature, joint laxity syndrome | Hydrocephaly, tall stature, joint laxity syndrome" +BMGC_DS11522,BMG_DS039955,MeSH ID:C565507 | multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | MONDO:0009359 | OMIM ID:236500 | Hydranencephaly with Renal Aplasia-Dysplasia | UMLS ID:C1856053 +BMGC_DS11523,BMG_DS039956,Hutterite cerebroosteonephrodysplasia syndrome | UMLS ID:C1856054 | HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME | OMIM ID:236450 | MONDO:0009358 +BMGC_DS11524,BMG_DS039957,MONDO:0009356 | MeSH ID:C565509 | Humeroradial Multiple Synostosis Syndrome | autosomal recessive humeroradial synostosis | OMIM ID:236400 | UMLS ID:C1856055 +BMGC_DS11525,BMG_DS039958,"MONDO:0009354 | OMIM ID:236270 | Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type | UMLS ID:C1856057 | MeSH ID:C565510 | methylcobalamin deficiency type cblE" +BMGC_DS11526,BMG_DS039960,Methylenetetrahydrofolate reductase deficiency | MeSH ID:C537357 | OMIM ID:MTHU012414 | OMIM ID:236250 | UMLS ID:C1856061 | MONDO:0009353 | homocystinuria due to methylene tetrahydrofolate reductase deficiency | ICD10 ID:E72.12 +BMGC_DS11527,BMG_DS039961,"Holzgreve syndrome | SNOMEDCT ID:783159001 | UMLS ID:C1856095 | Holzgreve Wagner Rehder syndrome | DOID:0060566 | Holzgreve syndrome (disorder) | Cleft palate, Potter sequence, congenital heart anomalies, mesoaxial polydactyly, multiple malformations syndrome | MONDO:0009350 | Holzgreve-Wagner-Rehder syndrome | OMIM ID:236110 | Holzgreve-Wagner-Rehder Syndrome | MeSH ID:C535327" +BMGC_DS11528,BMG_DS039962,MONDO:0009344 | Al Gazali Hirschsprung syndrome | MeSH ID:C535615 | UMLS ID:C1856110 | OMIM ID:235760 | Hirschsprung disease-nail hypoplasia-dysmorphism syndrome +BMGC_DS11529,BMG_DS039963,"MeSH ID:C565517 | Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect | OMIM ID:235750 | MONDO:0009343 | Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect | UMLS ID:C1856111" +BMGC_DS11530,BMG_DS039964,"UMLS ID:C1856112 | Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness | Hirschsprung disease-hearing loss-polydactyly syndrome | MeSH ID:C565518 | OMIM ID:235740 | MONDO:0009342" +BMGC_DS11531,BMG_DS039965,Hirschsprung disease-mental retardation syndrome | MeSH ID:C536990 | Mowat-Wilson syndrome | OMIM ID:235730 | DOID:0060485 | Mowat-Wilson syndrome (disorder) | UMLS ID:C1856113 | MONDO:0009341 | Hirschsprung disease-intellectual disability syndrome | SNOMEDCT ID:703535000 +BMGC_DS11532,BMG_DS039966,"MONDO:0009339 | UMLS ID:C1856127 | DOID:0111069 | Bile acid synthesis defect, congenital, 2 | congenital bile acid synthesis defect 2 | OMIM ID:235555 | MeSH ID:C535443" +BMGC_DS11533,BMG_DS039967,hepatic veno-occlusive disease-immunodeficiency syndrome | UMLS ID:C1856128 | DOID:0112254 | MONDO:0009338 | hepatic venoocclusive disease with immunodeficiency | Hepatic venoocclusive disease with immunodeficiency | OMIM ID:235550 | MeSH ID:C537257 +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 | OMIM ID:235370 | MeSH ID:C565522 +BMGC_DS11535,BMG_DS039970,MONDO:0009333 | mullerian derivatives-lymphangiectasia-polydactyly syndrome | OMIM ID:235255 | Urioste Martinez-Frias syndrome | MeSH ID:C536478 | UMLS ID:C1856159 +BMGC_DS11536,BMG_DS039971,"MONDO:0009331 | isolated hemihyperplasia | HEMIHYPERPLASIA, ISOLATED | OMIM ID:235000 | UMLS ID:C1856184" +BMGC_DS11537,BMG_DS039972,MeSH ID:C535994 | Deafness enamel hypoplasia nail defects | obsolete Heimler syndrome | UMLS ID:C1856186 | MONDO:0100229 +BMGC_DS11538,BMG_DS039973,"UMLS ID:C1856197 | OMIM ID:234280 | SNOMEDCT ID:771180005 | Hallux varus, preaxial polysyndactyly syndrome | MeSH ID:C536885 | Kleiner Holmes syndrome | Hallux varus, preaxial polysyndactyly syndrome (disorder) | hallux varus-preaxial polysyndactyly syndrome | MONDO:0009321" +BMGC_DS11539,BMG_DS039974,MeSH ID:C535623 | MONDO:0009320 | UMLS ID:C1856198 | Hall-Riggs syndrome | Hall Riggs mental retardation syndrome | OMIM ID:234250 +BMGC_DS11540,BMG_DS039975,MONDO:0022316 | UMLS ID:C1856241 | MeSH ID:C537628 | OMIM ID:234030 | Hair defect with photosensitivity and mental retardation | hair defect with photosensitivity and intellectual disability syndrome +BMGC_DS11541,BMG_DS039977,Grouped Pigmentation of the Macula | OMIM ID:233800 | MONDO:0009311 | grouped pigmentation of the retina | MeSH ID:C565530 | UMLS ID:C1856244 +BMGC_DS11542,BMG_DS039978,"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | MeSH ID:C565531 | MONDO:0009310 | UMLS ID:C1856245 | OMIM ID:233710 | Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II" +BMGC_DS11543,BMG_DS039979,"OMIM ID:233700 | MeSH ID:C565532 | granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I | MONDO:0009309 | UMLS ID:C1856251" +BMGC_DS11544,BMG_DS039980,"UMLS ID:C1856255 | DOID:0070193 | MONDO:0009308 | OMIM ID:233690 | autosomal recessive chronic granulomatous disease 4 | OMIM ID:608508 | granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4" +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,MeSH ID:C565535 | OMIM ID:233600 | MONDO:0009305 | immunodeficiency 59 | Granulocytopenia with Immunoglobulin Abnormality | DOID:0111974 | granulocytopenia with immunoglobulin abnormality | UMLS ID:C1856263 +BMGC_DS11547,BMG_DS039984,"UMLS ID:C1856273 | 46,XY sex reversal 7 | MONDO:0009301 | OMIM ID:233420" +BMGC_DS11548,BMG_DS039985,MONDO:0009298 | GOMBO syndrome | OMIM ID:233270 | MeSH ID:C537284 | UMLS ID:C1856274 +BMGC_DS11549,BMG_DS039986,MONDO:0009296 | Glycoprotein Storage Disease | OMIM ID:232900 | MeSH ID:C565538 | glycoprotein storage disease | UMLS ID:C1856275 +BMGC_DS11550,BMG_DS039987,"GSD IV, Classic Hepatic | UMLS ID:C1856301 | MeSH ID:C565539" +BMGC_DS11551,BMG_DS039989,"MONDO:0017697 | UMLS ID:C1856303 | MeSH ID:C565541 | GSD IV, Neuromuscular Form, Fatal Perinatal | glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" +BMGC_DS11552,BMG_DS039990,"MONDO:0017698 | GSD IV, Neuromuscular Form, Congenital | UMLS ID:C1856304 | MeSH ID:C565542 | glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form" +BMGC_DS11553,BMG_DS039991,"glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | UMLS ID:C1856305 | GSD IV, Neuromuscular Form, Childhood | MeSH ID:C565543 | MONDO:0017700" +BMGC_DS11554,BMG_DS039994,"glutathione synthetase deficiency | DOID:0080699 | MeSH ID:C536835 | inherited glutathione synthetase deficiency | OMIM ID:231900 | MONDO:0009284;MONDO:0017909 | Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to | glutathione synthetase deficiency without 5-oxoprolinuria | UMLS ID:C1856399" +BMGC_DS11555,BMG_DS039995,DOID:0060358 | UMLS ID:C1856401 | MeSH ID:D054069 | multiple acyl-CoA dehydrogenase deficiency | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | Glutaric Aciduria IIA +BMGC_DS11556,BMG_DS039996,UMLS ID:C1856403 | DOID:0060358 | MeSH ID:D054069 | multiple acyl-CoA dehydrogenase deficiency | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | Glutaric Aciduria IIB +BMGC_DS11557,BMG_DS039997,Glutaric Aciduria IIC | UMLS ID:C1856405 | DOID:0060358 | MeSH ID:D054069 | multiple acyl-CoA dehydrogenase deficiency | Multiple Acyl Coenzyme A Dehydrogenase Deficiency +BMGC_DS11558,BMG_DS039998,"GLAUCOMA 3, PRIMARY CONGENITAL, A | MONDO:0009277 | glaucoma 3A | UMLS ID:C1856439 | OMIM ID:231300 | OMIM ID:601771" +BMGC_DS11559,BMG_DS040001,"Bernard-Soulier Syndrome, Type B | MeSH ID:C565549 | UMLS ID:C1856447" +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 | OMIM ID:231095 | MONDO:0009274 +BMGC_DS11562,BMG_DS040004,Genito palato cardiac syndrome | OMIM ID:231060 | MeSH ID:C537683 | MONDO:0009270 | genito-palato-cardiac syndrome | UMLS ID:C1856466 +BMGC_DS11563,BMG_DS040005,"Gaucher Disease, Type Iiic | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | MONDO:0009268 | UMLS ID:C1856476 | MeSH ID:C565553 | OMIM ID:231005" +BMGC_DS11564,BMG_DS040009,"UMLS ID:C1856603 | DOID:0111681 | gamma-glutamylcysteine synthetase deficiency | MeSH ID:C565557 | Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to | congenital nonspherocytic hemolytic anemia 7 | MONDO:0009259 | OMIM ID:230450" +BMGC_DS11565,BMG_DS040010,fructose and galactose intolerance | Fructose and Galactose Intolerance | UMLS ID:C1856686 | OMIM ID:229500 | MeSH ID:C565558 | MONDO:0009248 +BMGC_DS11566,BMG_DS040012,MONDO:0100340 | FRIEDREICH ATAXIA 1 | Friedreich ataxia 1 | OMIM ID:229300 | UMLS ID:C1856689 +BMGC_DS11567,BMG_DS040014,OMIM ID:229230 | Fraser-Like Syndrome | UMLS ID:C1856708 | MONDO:0009243 | MeSH ID:C565562 | Fraser-like syndrome +BMGC_DS11568,BMG_DS040015,"MeSH ID:C537070 | UMLS ID:C1856716 | Follicle-stimulating hormone deficiency, isolated" +BMGC_DS11569,BMG_DS040016,"MONDO:0009235 | UMLS ID:C1856718 | Fleck Retina, Familial Benign | familial benign fleck retina | DOID:0111677 | OMIM ID:228980 | familial benign flecked retina | MeSH ID:C565564" +BMGC_DS11570,BMG_DS040017,"Kininogen Deficiency, Total | UMLS ID:C1856719 | MeSH ID:C537060" +BMGC_DS11571,BMG_DS040019,Fuhrmann syndrome | DOID:0090067 | Fuhrmann Rieger de Sousa syndrome | MONDO:0009232 | OMIM ID:228930 | MeSH ID:C538189 | UMLS ID:C1856728 | SNOMEDCT ID:721296004 | Fuhrmann syndrome (disorder) +BMGC_DS11572,BMG_DS040020,MONDO:0009231 | MeSH ID:C537931 | acromesomelic dysplasia 2B | fibular hypoplasia and complex brachydactyly | UMLS ID:C1856738 | OMIM ID:228900 | Fibular hypoplasia and complex brachydactyly | DOID:0050790 +BMGC_DS11573,BMG_DS040023,MeSH ID:C537917 | Femur bifid with monodactylous ectrodactyly | OMIM ID:228250 | Gollop-Wolfgang complex | MONDO:0009222 | UMLS ID:C1856789 +BMGC_DS11574,BMG_DS040027,UMLS ID:C1856871 | SNOMEDCT ID:725434009 | OMIM ID:227330 | Teebi Naguib Alawadi syndrome | Aarskog-like syndrome | autosomal recessive faciodigitogenital syndrome | Autosomal recessive faciodigitogenital syndrome | Autosomal recessive faciodigitogenital syndrome (disorder) | MONDO:0009209 | Autosomal recessive facio-digito-genital syndrome | Facio-digito-genital syndrome Kuwait type +BMGC_DS11575,BMG_DS040028,"MONDO:0009207 | Factor V And Factor VIII, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor | MeSH ID:C565577 | UMLS ID:C1856882 | OMIM ID:227310 | factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor" +BMGC_DS11576,BMG_DS040029,combined deficiency of factor V and factor VIII | MONDO:0018175 | UMLS ID:C1856883 +BMGC_DS11577,BMG_DS040030,"OMIM ID:227270 | lethal faciocardiomelic dysplasia | Faciocardiomelic Dysplasia, Lethal | MeSH ID:C565578 | MONDO:0009204 | UMLS ID:C1856891" +BMGC_DS11578,BMG_DS040031,Facial Dysmorphism with Multiple Malformations | UMLS ID:C1856892 | OMIM ID:227255 | MONDO:0009202 | Thakker-Donnai syndrome | MeSH ID:C565579 +BMGC_DS11579,BMG_DS040034,"OMIM ID:614841 | hypogonadotropic hypogonadism 12 with or without anosmia | MeSH ID:C535764 | Eunuchoidism, familial hypogonadotropic | MONDO:0013914 | UMLS ID:C1856897 | OMIM ID:227200" +BMGC_DS11580,BMG_DS040035,congenital lethal erythroderma | UMLS ID:C1856898 | MONDO:0009198 | OMIM ID:227090 +BMGC_DS11581,BMG_DS040036,Ermine phenotype | MONDO:0009196 | MeSH ID:C535508 | OMIM ID:227010 | ermine phenotype | UMLS ID:C1856899 +BMGC_DS11582,BMG_DS040037,erythema of acral regions | UMLS ID:C1856900 | MONDO:0009195 | OMIM ID:227000 +BMGC_DS11583,BMG_DS040039,"UMLS ID:C1856918 | OMIM ID:226950 | epiphyseal dysplasia of femoral head, myopia, and deafness | Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness | MONDO:0009190 | MeSH ID:C565585" +BMGC_DS11584,BMG_DS040040,MONDO:0009188 | epilepsy-telangiectasia syndrome | MeSH ID:C535497 | Epilepsy telangiectasia | OMIM ID:226850 | UMLS ID:C1856929 +BMGC_DS11585,BMG_DS040041,UMLS ID:C1856930 | OMIM ID:226810 | celiac disease-epilepsy-cerebral calcification syndrome | MONDO:0009187 | Epilepsy occipital calcifications | MeSH ID:C535496 +BMGC_DS11586,BMG_DS040042,"OMIM ID:226800 | Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation | MeSH ID:C565587 | MONDO:0009186 | epilepsy, photogenic, with spastic diplegia and intellectual disability | UMLS ID:C1856931" +BMGC_DS11587,BMG_DS040043,Epidermolysis Bullosa With Diaphragmatic Hernia | epidermolysis bullosa with diaphragmatic hernia | MONDO:0009184 | UMLS ID:C1856933 | OMIM ID:226735 | MeSH ID:C565588 +BMGC_DS11588,BMG_DS040044,UMLS ID:C1856934 | Epidermolysis bullosa with pyloric atresia | MeSH ID:C535377 +BMGC_DS11589,BMG_DS040047,MONDO:0009170 | MeSH ID:C565592 | Endocardial Fibroelastosis and Coarctation of Abdominal Aorta | UMLS ID:C1856971 | endocardial fibroelastosis and coarctation of abdominal aorta | OMIM ID:226100 +BMGC_DS11590,BMG_DS040048,MeSH ID:C565593 | OMIM ID:225790 | Fowler syndrome | proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | DOID:0111666 | Encephaloclastic Proliferative Vasculopathy | UMLS ID:C1856972 | MONDO:0009168 +BMGC_DS11591,BMG_DS040050,DOID:0060273 | OMIM ID:225753 | Congenital pontocerebellar hypoplasia type 4 (disorder) | Fatal infantile encephalopathy with olivopontocerebellar hypoplasia | PCH4 - pontocerebellar hypoplasia type 4 | Pontocerebellar hypoplasia type 4 | SNOMEDCT ID:718608006 | Congenital pontocerebellar hypoplasia type 4 | MONDO:0009166 | UMLS ID:C1856974 | pontocerebellar hypoplasia type 4 +BMGC_DS11592,BMG_DS040052,"Encephalomalacia, Multilocular | MONDO:0009163 | MeSH ID:C565597 | UMLS ID:C1856991 | encephalomalacia, multilocular | 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, fibronectinemic type | OMIM ID:225310 | UMLS ID:C1857038 | MONDO:0009158 | MeSH ID:C565600 | Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality" +BMGC_DS11595,BMG_DS040057,Ectrodactyly-Polydactyly | OMIM ID:225290 | ectrodactyly-polydactyly syndrome | MeSH ID:C565601 | UMLS ID:C1857040 | MONDO:0009156 +BMGC_DS11596,BMG_DS040058,"UMLS ID:C1857041 | MONDO:0009155 | OMIM ID:225280 | MeSH ID:C536190 | EEM syndrome | Ectodermal dysplasia, ectrodactyly, and macular dystrophy" +BMGC_DS11597,BMG_DS040059,"OMIM ID:225050 | Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia | UMLS ID:C1857052 | MeSH ID:C565604 | MONDO:0009150 | hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome" +BMGC_DS11598,BMG_DS040061,ectodermal dysplasia-sensorineural deafness syndrome | OMIM ID:224800 | UMLS ID:C1857068 | MONDO:0009146 | Ectodermal Dysplasia and Neurosensory Deafness | MeSH ID:C565606 +BMGC_DS11599,BMG_DS040062,Schopf-Schulz-Passarge syndrome | MONDO:0009145 | UMLS ID:C1857069 | DOID:0111647 | Schopf-Schulz-Passarge Syndrome | OMIM ID:224750 | MeSH ID:C565607 | SchC6pf-Schulz-Passarge syndrome +BMGC_DS11600,BMG_DS040065,MeSH ID:C538006 | torsion dystonia 2 | UMLS ID:C1857093 | MONDO:0009141 | OMIM ID:224500 | Dystonia musculorum deformans type 2 +BMGC_DS11601,BMG_DS040066,Dyssegmental dysplasia | MONDO:0009140 | OMIM ID:MTHU013285 | OMIM ID:224410 | MeSH ID:C537998 | UMLS ID:C1857100 | Silverman-Handmaker type dyssegmental dysplasia +BMGC_DS11602,BMG_DS040068,"OMIM ID:224230 | UMLS ID:C1857144 | DOID:0070015 | MONDO:0009136 | dyskeratosis congenita, autosomal recessive 1 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 | autosomal recessive dyskeratosis congenita 1 | OMIM ID:606471" +BMGC_DS11603,BMG_DS040069,MONDO:0009132 | dysautonomia-like disorder | UMLS ID:C1857153 | Dysautonomia like disorder | MeSH ID:C535728 | OMIM ID:224000 +BMGC_DS11604,BMG_DS040070,"MeSH ID:C565614 | UMLS ID:C1857196 | dwarfism, proportionate, with hip dislocation | MONDO:0009129 | Dwarfism, Proportionate, with Hip Dislocation | OMIM ID:223550" +BMGC_DS11605,BMG_DS040071,"dwarfism, low-birth-weight type, with unresponsiveness to growth hormone | UMLS ID:C1857197 | MeSH ID:C565615 | OMIM ID:223500 | Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone | MONDO:0009127" +BMGC_DS11606,BMG_DS040072,OMIM ID:223350 | MONDO:0009122 | UMLS ID:C1857225 | Dohle bodies and leukemia +BMGC_DS11607,BMG_DS040073,MeSH ID:C565618 | DK Phocomelia Syndrome | OMIM ID:223340 | von Voss-Cherstvoy syndrome | UMLS ID:C1857226 | MONDO:0009121 +BMGC_DS11608,BMG_DS040077,"Rhizomelic chondrodysplasia punctata, type 2 | DOID:0110852 | MeSH ID:C537607 | OMIM ID:222765 | UMLS ID:C1857242 | rhizomelic chondrodysplasia punctata type 2 | MONDO:0009112" +BMGC_DS11609,BMG_DS040078,"2,4-Dienoyl-CoA Reductase Deficiency | UMLS ID:C1857252 | MeSH ID:C565624 | MONDO:0014464 | OMIM ID:616034 | progressive encephalopathy with leukodystrophy due to DECR deficiency" +BMGC_DS11610,BMG_DS040079,UMLS ID:C1857253 | MeSH ID:C536171 | MONDO:0009110 | Dicarboxylicaminoaciduria | OMIM ID:222730 | DOID:0060650 | dicarboxylic aminoaciduria +BMGC_DS11611,BMG_DS040080,"UMLS ID:C1857255 | Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant | MeSH ID:C565626" +BMGC_DS11612,BMG_DS040081,MeSH ID:C565627 | Trichohepatoenteric Syndrome | MONDO:0009105 | trichohepatoenteric syndrome | DOID:0111414 | UMLS ID:C1857276 +BMGC_DS11613,BMG_DS040082,Diaphragmatic hernia-exomphalos-hypertelorism syndrome | MONDO:0009104 | SNOMEDCT ID:702418009 | Diaphragmatic hernia-exomphalos-corpus callosum agenesis | Faciooculoacousticorenal syndrome | DOID:0090144 | Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) | Donnai-Barrow syndrome | MeSH ID:C536390 | OMIM ID:222448 | UMLS ID:C1857277 +BMGC_DS11614,BMG_DS040083,MONDO:0009103 | UMLS ID:C1857284 | OMIM ID:222400 | diaphragmatic hernia 2 +BMGC_DS11615,BMG_DS040084,OMIM ID:222350 | MONDO:0009102 | UMLS ID:C1857285 | MeSH ID:C565630 | diaminopentanuria | Diaminopentanuria +BMGC_DS11616,BMG_DS040085,"UMLS ID:C1857297 | nephrogenic diabetes insipidus-intracranial calcification syndrome | MeSH ID:C565632 | OMIM ID:221995 | Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification | MONDO:0009099" +BMGC_DS11617,BMG_DS040088,MONDO:0009093 | SNOMEDCT ID:733044009 | OMIM ID:221790 | dermatoleukodystrophy | UMLS ID:C1857314 | Dermatoleukodystrophy (disorder) | MeSH ID:C538220 | Dermatoleukodystrophy +BMGC_DS11618,BMG_DS040089,DOID:0090112 | Nasu-Hakola disease | MONDO:0009092 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly | UMLS ID:C1857316 +BMGC_DS11619,BMG_DS040090,"hearing loss, sensorineural, autosomal-mitochondrial type | Deafness, Sensorineural, Autosomal-Mitochondrial Type | UMLS ID:C1857332 | MONDO:0009090 | MeSH ID:C565637 | OMIM ID:221745" +BMGC_DS11620,BMG_DS040091,UMLS ID:C1857333 | deafness-oligodontia syndrome | OMIM ID:221740 | MeSH ID:C538049 | Deafness oligodontia syndrome | MONDO:0009089 +BMGC_DS11621,BMG_DS040092,"UMLS ID:C1857334 | Deafness, Neural, with Atypical Atopic Dermatitis | MONDO:0009088 | deafness, neural, with atypical atopic dermatitis | MeSH ID:C565639 | OMIM ID:221700" +BMGC_DS11622,BMG_DS040093,"OMIM ID:221500 | MeSH ID:C565640 | Deafness, Neural, Congenital Moderate | deafness, neural, congenital moderate | MONDO:0009087 | UMLS ID:C1857337" +BMGC_DS11623,BMG_DS040094,"Groll Hirschowitz syndrome | UMLS ID:C1857338 | Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | SNOMEDCT ID:733071009 | OMIM ID:221400 | Deafness, small bowel diverticulosis, neuropathy syndrome | MeSH ID:C537305 | MONDO:0009086 | deafness-small bowel diverticulosis-neuropathy syndrome" +BMGC_DS11624,BMG_DS040095,"MONDO:0009085 | MeSH ID:C565642 | UMLS ID:C1857339 | deafness-vitiligo-achalasia syndrome | Deafness, Congenital, with Vitiligo and Achalasia | OMIM ID:221350" +BMGC_DS11625,BMG_DS040096,MeSH ID:C535993 | OMIM ID:221320 | MONDO:0009084 | Deafness conductive ptosis skeletal anomalies | conductive deafness-ptosis-skeletal anomalies syndrome | UMLS ID:C1857340 +BMGC_DS11626,BMG_DS040097,"conductive deafness-malformed external ear syndrome | OMIM ID:221300 | Deafness, Conductive, with Malformed External Ear | UMLS ID:C1857341 | MONDO:0009083 | MeSH ID:C565644" +BMGC_DS11627,BMG_DS040099,"MONDO:0009081 | MeSH ID:C565646 | OMIM ID:220900 | deafness, congenital, with total albinism | UMLS ID:C1857343 | Deafness, Congenital, with Total Albinism" +BMGC_DS11628,BMG_DS040100,OMIM ID:220600 | MONDO:0009080 | Split-Hand-Foot Malformation With Sensorineural Hearing Loss | UMLS ID:C1857344 | split hand-foot malformation 1 with sensorineural hearing loss | MeSH ID:C565647 +BMGC_DS11629,BMG_DS040102,MeSH ID:C535771 | Dandy-Walker malformation-postaxial polydactyly syndrome | UMLS ID:C1857351 | MONDO:0009075 | Dandy Walker malformation postaxial polydactyly | OMIM ID:220220 +BMGC_DS11630,BMG_DS040104,"French Canadian Leigh disease | UMLS ID:C1857355 | DOID:0111180 | congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | OMIM ID:220111 | MONDO:0009069 | Leigh syndrome , French Canadian type | MeSH ID:C537004" +BMGC_DS11631,BMG_DS040105,"MeSH ID:C565652 | UMLS ID:C1857388 | cystinuria type A | MONDO:0019745 | Cystinuria, Type A" +BMGC_DS11632,BMG_DS040106,"MeSH ID:C565652 | Cystinuria, Type B | cystinuria type B | MONDO:0019746 | UMLS ID:C1857389" +BMGC_DS11633,BMG_DS040108,Fanconi Syndrome | primary Fanconi syndrome | De Toni-Debre-Fanconi Syndrome | UMLS ID:C1857395 | MONDO:0007600 | MeSH ID:D005198 +BMGC_DS11634,BMG_DS040109,ventriculomegaly - cystic kidney disease | MeSH ID:C565657 | DOID:0111625 | Cystic Kidney Disease with Ventriculomegaly | MONDO:0009063 | UMLS ID:C1857423 | OMIM ID:219730 | ventriculomegaly-cystic kidney disease +BMGC_DS11635,BMG_DS040111,UMLS ID:C1857438 | Cysteine Peptiduria | cysteine Peptiduria | OMIM ID:219550 | MeSH ID:C565659 | MONDO:0009059 +BMGC_DS11636,BMG_DS040113,OMIM ID:219300 | cutis verticis gyrata and intellectual disability | CUTIS VERTICIS GYRATA AND IMPAIRED INTELLECTUAL DEVELOPMENT | UMLS ID:C1857444 | MONDO:0009056 +BMGC_DS11637,BMG_DS040114,"UMLS ID:C1857449 | cutaneous photosensitivity-lethal colitis syndrome | Cutaneous photosensitivity and colitis, lethal | MONDO:0009051 | OMIM ID:219095 | MeSH ID:C536224" +BMGC_DS11638,BMG_DS040115,ACTH-independent macronodular adrenal hyperplasia 1 | MeSH ID:C565662 | OMIM ID:219080 | MONDO:0020735 | Acth-Independent Macronodular Adrenal Hyperplasia | UMLS ID:C1857451 +BMGC_DS11639,BMG_DS040116,curved nail of fourth toe | MONDO:0009048 | OMIM ID:219070 | UMLS ID:C1857452 +BMGC_DS11640,BMG_DS040118,MONDO:0009041 | craniosynostosis-intellectual disability-clefting syndrome | UMLS ID:C1857472 | Craniosynostosis Mental Retardation Clefting Syndrome | OMIM ID:218650 | MeSH ID:C565663 +BMGC_DS11641,BMG_DS040120,OMIM ID:218550 | Craniosynostosis with Fibular Aplasia | MONDO:0009038 | craniosynostosis-fibular aplasia syndrome | MeSH ID:C565665 | UMLS ID:C1857492 +BMGC_DS11642,BMG_DS040123,UMLS ID:C1857511 | MONDO:0009034 | MeSH ID:C536455 | Craniofacial dyssynostosis | craniofacial dyssynostosis | OMIM ID:218350 +BMGC_DS11643,BMG_DS040124,MONDO:0009033 | temtamy syndrome | SNOMEDCT ID:719947004 | OMIM ID:218340 | MeSH ID:C536959 | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) | DOID:0111621 | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Temtamy syndrome | UMLS ID:C1857512 | Temtamy Shalash syndrome +BMGC_DS11644,BMG_DS040125,"MONDO:0009030 | OMIM ID:218200 | cranial nerves, recurrent paresis of | Cranial Nerves, Recurrent Paresis Of | MeSH ID:C565672 | UMLS ID:C1857530" +BMGC_DS11645,BMG_DS040126,"cranial nerves, congenital paresis of | MeSH ID:C565673 | OMIM ID:218100 | UMLS ID:C1857531 | MONDO:0009029 | Cranial Nerves, Congenital Paresis Of" +BMGC_DS11646,BMG_DS040128,"MONDO:0009027 | OMIM ID:218050 | cramps, familial adolescent | UMLS ID:C1857533" +BMGC_DS11647,BMG_DS040130,MONDO:0009019 | UMLS ID:C1857569 | congenital hereditary endothelial dystrophy of cornea | OMIM ID:217700 +BMGC_DS11648,BMG_DS040132,OMIM ID:610206 | MONDO:0009015 | UMLS ID:C1857572 | DOID:0111620 | corneal dystrophy-perceptive deafness syndrome | CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS | OMIM ID:217400 +BMGC_DS11649,BMG_DS040133,cornea plana 2 | OMIM ID:217300 | MONDO:0009014 | OMIM ID:603288 | UMLS ID:C1857574 | CORNEA PLANA 2 +BMGC_DS11650,BMG_DS040134,"OMIM ID:217200 | MeSH ID:C565678 | UMLS ID:C1857575 | Convulsive Disorder, Familial, with Prenatal or Early Onset | MONDO:0009013 | convulsive disorder, familial, with prenatal or early onset" +BMGC_DS11651,BMG_DS040135,"UMLS ID:C1857576 | multiple pterygium-malignant hyperthermia syndrome | Contractures, Congenital, Torticollis, and Malignant Hyperthermia | OMIM ID:217150 | MONDO:0009012 | MeSH ID:C565679" +BMGC_DS11652,BMG_DS040136,OMIM ID:217100 | ADAM COMPLEX | UMLS ID:C1857577 +BMGC_DS11653,BMG_DS040139,MeSH ID:C535464 | UMLS ID:C1857586 | MONDO:0016581 | conotruncal heart malformations | OMIM ID:217095 | Conotruncal cardiac defects +BMGC_DS11654,BMG_DS040140,MeSH ID:C537137 | OMIM ID:217085 | MONDO:0009008 | UMLS ID:C1857587 | heart defect - tongue hamartoma - polysyndactyly syndrome | Orstavik Lindemann Solberg syndrome +BMGC_DS11655,BMG_DS040141,MeSH ID:C536604 | UMLS ID:C1857588 | amaurosis-hypertrichosis syndrome | MONDO:0008766 | OMIM ID:204110 | Amaurosis hypertrichosis +BMGC_DS11656,BMG_DS040143,DOID:0110007 | Achromatopsia 2 | OMIM ID:216900 | UMLS ID:C1857618 | achromatopsia 2 | MONDO:0009003 | MeSH ID:C536128 +BMGC_DS11657,BMG_DS040144,MONDO:0009001 | Coloboma of Macula and Skeletal Anomalies | macular coloboma-cleft palate-hallux valgus syndrome | OMIM ID:216800 | UMLS ID:C1857619 | MeSH ID:C565686 +BMGC_DS11658,BMG_DS040145,"COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING | OMIM ID:216700 | MONDO:0009000 | familial reactive perforating collagenosis | UMLS ID:C1857624" +BMGC_DS11659,BMG_DS040147,"SNOMEDCT ID:721847002 | Joubert syndrome with hepatic defect | UMLS ID:C1857662 | MeSH ID:C536430 | MONDO:0100349 | Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis | COACH syndrome | Joubert syndrome with congenital hepatic fibrosis | Joubert syndrome with congenital hepatic fibrosis (disorder) | DOID:0111589 | COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome | Gentile syndrome" +BMGC_DS11660,BMG_DS040148,OMIM ID:216340 | Yunis-Varon syndrome | MeSH ID:C536719 | Yunis Varon syndrome | UMLS ID:C1857663 | MONDO:0008995 | DOID:0060589 +BMGC_DS11661,BMG_DS040149,MONDO:0012534 | UMLS ID:C1857682 | combined oxidative phosphorylation defect type 4 | MeSH ID:C565690 | OMIM ID:610678 | DOID:0111494 | combined oxidative phosphorylation deficiency 4 | Combined Oxidative Phosphorylation Deficiency 4 +BMGC_DS11662,BMG_DS040150,"UMLS ID:C1857688 | MONDO:0012532 | MeSH ID:C565691 | Telangiectasia, Hereditary Hemorrhagic, Type 4 | OMIM ID:610655 | hereditary hemorrhagic telangiectasia type 4" +BMGC_DS11663,BMG_DS040152,"MeSH ID:C536355 | Diamond-Blackfan anemia 3 | OMIM ID:610629 | DOID:0111887 | Diamond-blackfan anemia 3 | MONDO:0012529 | UMLS ID:C1857719 | Anemia, Diamond-Blackfan, 3" +BMGC_DS11664,BMG_DS040154,Hereditary Angioedema Type III | MONDO:0012526 | OMIM ID:610618 | MeSH ID:D056828 | hereditary angioedema type 3 | hereditary angioedema type III | UMLS ID:C1857728 | DOID:0080940 +BMGC_DS11665,BMG_DS040155,DOID:0110080 | MeSH ID:C565697 | OMIM ID:610612 | UMLS ID:C1857743 | MONDO:0012525 | Leber Congenital Amaurosis 12 | Leber congenital amaurosis 12 +BMGC_DS11666,BMG_DS040156,"DEAFNESS, AUTOSOMAL RECESSIVE 59 | UMLS ID:C1857744 | OMIM ID:610220 | OMIM ID:610219 | autosomal recessive nonsyndromic hearing loss 59 | MONDO:0012445" +BMGC_DS11667,BMG_DS040157,MeSH ID:C565699 | OMIM ID:610217 | Neurodegeneration With Brain Iron Accumulation 2B | UMLS ID:C1857747 | MONDO:0012444 | neurodegeneration with brain iron accumulation 2B +BMGC_DS11668,BMG_DS040159,"DEAFNESS, AUTOSOMAL RECESSIVE 66 | OMIM ID:605755 | MONDO:0012442 | OMIM ID:610212 | UMLS ID:C1857750 | autosomal recessive nonsyndromic hearing loss 66" +BMGC_DS11669,BMG_DS040160,"OMIM ID:610209 | UMLS ID:C1857751 | MONDO:0012441 | migraine with or without aura, susceptibility to, 11" +BMGC_DS11670,BMG_DS040161,"MONDO:0012440 | UMLS ID:C1857752 | migraine with or without aura, susceptibility to, 10 | OMIM ID:610208" +BMGC_DS11671,BMG_DS040162,MONDO:0012439 | Alagille syndrome due to a NOTCH2 point mutation | OMIM ID:610205 | UMLS ID:C1857761 | Alagille Syndrome 2 | Alagille Syndrome | MeSH ID:D016738 +BMGC_DS11672,BMG_DS040163,"Olivopontocerebellar hypoplasia, fetal-onset | DOID:0060274 | MONDO:0012438 | UMLS ID:C1857762 | OMIM ID:610204 | pontocerebellar hypoplasia type 5 | MeSH ID:C537745" +BMGC_DS11673,BMG_DS040165,"cataract 21 multiple types | MONDO:0012437 | MeSH ID:C565703 | Cataract, Pulverulent, Juvenile-Onset | OMIM ID:610202 | UMLS ID:C1857768" +BMGC_DS11674,BMG_DS040166,"Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism | neonatal diabetes mellitus with congenital hypothyroidism | MeSH ID:C565705 | MONDO:0012436 | UMLS ID:C1857775 | OMIM ID:610199" +BMGC_DS11675,BMG_DS040167,"3-@METHYLGLUTACONIC ACIDURIA, TYPE V | UMLS ID:C1857776 | 3-methylglutaconic aciduria type 5 | OMIM ID:608977 | OMIM ID:610198 | MONDO:0012435" +BMGC_DS11676,BMG_DS040168,"MeSH ID:C565707 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 | UMLS ID:C1857777 | arrhythmogenic right ventricular dysplasia 10 | MONDO:0012434 | OMIM ID:610193" +BMGC_DS11677,BMG_DS040169,OMIM ID:610142 | MONDO:0012433 | UMLS ID:C1857779 | Senior-Loken syndrome 6 | OMIM ID:610189 | SENIOR-LOKEN SYNDROME 6 +BMGC_DS11678,BMG_DS040170,Joubert syndrome 5 | OMIM ID:610142 | UMLS ID:C1857780 | JOUBERT SYNDROME 5 | MONDO:0012432 | OMIM ID:610188 +BMGC_DS11679,BMG_DS040171,MONDO:0012431 | diaphragmatic hernia 3 | OMIM ID:610187 | UMLS ID:C1857781 +BMGC_DS11680,BMG_DS040173,immunodeficiency 25 | UMLS ID:C1857798 | MONDO:0012426 | Immunodeficiency due to Defect in CD3-Zeta | DOID:0111942 | MeSH ID:C565712 | OMIM ID:610163 +BMGC_DS11681,BMG_DS040174,"UMLS ID:C1857800 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2 | corneal dystrophy, fuchs endothelial, 2 | MONDO:0012425 | OMIM ID:610158" +BMGC_DS11682,BMG_DS040175,"OMIM ID:610156 | MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome | MORM syndrome | MONDO:0012423 | SNOMEDCT ID:715628009 | MeSH ID:C536984 | Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome | UMLS ID:C1857802 | Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome" +BMGC_DS11683,BMG_DS040177,"type 1 diabetes mellitus 19 | MeSH ID:C565715 | OMIM ID:610155 | MONDO:0012422 | UMLS ID:C1857808 | Diabetes Mellitus, Insulin-Dependent, 19" +BMGC_DS11684,BMG_DS040178,"DEAFNESS, AUTOSOMAL RECESSIVE 44 | MONDO:0012421 | OMIM ID:103072 | autosomal recessive nonsyndromic hearing loss 44 | OMIM ID:610154 | UMLS ID:C1857809" +BMGC_DS11685,BMG_DS040179,"DEAFNESS, AUTOSOMAL RECESSIVE 49 | MONDO:0012420 | autosomal recessive nonsyndromic hearing loss 49 | OMIM ID:610153 | OMIM ID:610572 | UMLS ID:C1857811" +BMGC_DS11686,BMG_DS040180,"UMLS ID:C1857813 | OMIM ID:610149 | MeSH ID:C565718 | MONDO:0012419 | Macular Degeneration, Age-Related, 7 | age related macular degeneration 7" +BMGC_DS11687,BMG_DS040181,"UMLS ID:C1857820 | autosomal recessive nonsyndromic hearing loss 62 | DEAFNESS, AUTOSOMAL RECESSIVE 62 | OMIM ID:610143 | MONDO:0012418" +BMGC_DS11688,BMG_DS040182,OMIM ID:611755 | Leber congenital amaurosis 10 | Leber Congenital Amaurosis 10 | MONDO:0012723 | MeSH ID:C565720 | UMLS ID:C1857821 | DOID:0110291 +BMGC_DS11689,BMG_DS040184,"MONDO:0012417 | MeSH ID:C535852 | OMIM ID:610140 | Heart-hand syndrome, Slovenian type | heart-hand syndrome, Slovenian type | UMLS ID:C1857829" +BMGC_DS11690,BMG_DS040187,MONDO:0012342 | OMIM ID:609757 | Williams-Beuren Region Duplication Syndrome | 7q11.23 microduplication syndrome | MeSH ID:C565723 | UMLS ID:C1857844 +BMGC_DS11691,BMG_DS040188,"MONDO:0012341 | UMLS ID:C1857845 | OMIM ID:609755 | celiac disease, susceptibility to, 3" +BMGC_DS11692,BMG_DS040190,"celiac disease, susceptibility to, 4 | UMLS ID:C1857847 | MONDO:0012339 | OMIM ID:609753" +BMGC_DS11693,BMG_DS040193,"UMLS ID:C1857853 | MONDO:0012336 | Cataract, Congenital Nuclear, Autosomal Recessive 2 | cataract 22 multiple types | MeSH ID:C565725 | OMIM ID:609741" +BMGC_DS11694,BMG_DS040194,MONDO:0012335 | UMLS ID:C1857854 | Proopiomelanocortin Deficiency | obesity due to pro-opiomelanocortin deficiency | MeSH ID:C565726 | OMIM ID:609734 +BMGC_DS11695,BMG_DS040195,"hereditary spastic paraplegia 29 | MONDO:0012334 | SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT | OMIM ID:609727 | UMLS ID:C1857855" +BMGC_DS11696,BMG_DS040196,"UMLS ID:C1857933 | MONDO:0011513 | Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology | MeSH ID:C565728 | OMIM ID:605055 | Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology" +BMGC_DS11697,BMG_DS040197,UMLS ID:C1857941 | MeSH ID:C536611 | OMIM ID:605041 | SNOMEDCT ID:703531009 | Spiegler-Brooke syndrome | Brooke-Spiegler syndrome | MONDO:0011512 | Brooke-Spiegler syndrome (disorder) | DOID:0050693 +BMGC_DS11698,BMG_DS040201,"MeSH ID:C565730 | Diabetes Mellitus, Congenital Autoimmune | MONDO:0011507 | UMLS ID:C1857958 | diabetes mellitus, congenital autoimmune | OMIM ID:605026" +BMGC_DS11699,BMG_DS040202,"familial hypobetalipoproteinemia 2 | UMLS ID:C1857970 | Hypobetalipoproteinemia, Familial, 2 | MeSH ID:C565732 | MONDO:0011505 | OMIM ID:605019" +BMGC_DS11700,BMG_DS040203,MONDO:0011504 | OMIM ID:609449 | MICROHYDRANENCEPHALY | UMLS ID:C1857977 | NDE1-related microhydranencephaly | OMIM ID:605013 +BMGC_DS11701,BMG_DS040204,WOLFRAM SYNDROME 2 | Wolfram syndrome 2 | MONDO:0011502 | OMIM ID:604928 | UMLS ID:C1858028 | OMIM ID:611507 +BMGC_DS11702,BMG_DS040206,Becker nevus syndrome | OMIM ID:604919 | UMLS ID:C1858042 | Becker Nevus Syndrome | MONDO:0011500 | MeSH ID:C565735 +BMGC_DS11703,BMG_DS040207,UMLS ID:C1858043 | SNOMEDCT ID:722065002 | Okamoto syndrome | Okamoto syndrome (disorder) +BMGC_DS11704,BMG_DS040208,UMLS ID:C1858050 | OMIM ID:604906 | MONDO:0011498 | schizophrenia 9 +BMGC_DS11705,BMG_DS040209,hereditary North American Indian childhood cirrhosis | OMIM ID:604901 | NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS | MONDO:0011497 | UMLS ID:C1858051 +BMGC_DS11706,BMG_DS040210,OMIM ID:605231 | UMLS ID:C1858054 | OMIM ID:604896 | Bardet-Biedl syndrome 6 | MONDO:0011523 | BARDET-BIEDL SYNDROME 6 +BMGC_DS11707,BMG_DS040211,OMIM ID:208550 | UMLS ID:C1858067 | ASTHMA AND NASAL POLYPS | 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 | MONDO:0011493 | UMLS ID:C1858084 | OMIM ID:604841 | MeSH ID:C537493 | Stickler syndrome type 2" +BMGC_DS11710,BMG_DS040216,"UMLS ID:C1858106 | MONDO:0011489 | OMIM ID:604805 | MeSH ID:C537484 | hereditary spastic paraplegia 12 | Spastic paraplegia 12, autosomal dominant" +BMGC_DS11711,BMG_DS040217,"MONDO:0011488 | OMIM ID:604804 | Microcephaly, Primary Autosomal Recessive, 3 | MeSH ID:C565746 | UMLS ID:C1858108 | microcephaly 3, primary, autosomal recessive" +BMGC_DS11712,BMG_DS040218,Huntington disease-like 3 | MONDO:0011487 | OMIM ID:604802 | UMLS ID:C1858114 +BMGC_DS11713,BMG_DS040219,OMIM ID:MTHU004659 | UMLS ID:C1858116 | Caudate atrophy +BMGC_DS11714,BMG_DS040220,"MeSH ID:C565748 | Muscular Dystrophy, Congenital, 1B | OMIM ID:604801 | congenital muscular dystrophy 1B | UMLS ID:C1858118 | MONDO:0011486" +BMGC_DS11715,BMG_DS040221,"autosomal recessive congenital ichthyosis 5 | MONDO:0011485 | UMLS ID:C1858133 | OMIM ID:604777 | Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive | MeSH ID:C565749" +BMGC_DS11716,BMG_DS040223,"MONDO:0011482 | dilated cardiomyopathy 1I | UMLS ID:C1858154 | CARDIOMYOPATHY, DILATED, 1I | OMIM ID:604765 | OMIM ID:125660" +BMGC_DS11717,BMG_DS040224,OMIM ID:604757 | craniosynostosis 2 | MONDO:0011481 | UMLS ID:C1858160 +BMGC_DS11718,BMG_DS040225,"autosomal dominant nonsyndromic hearing loss 20 | OMIM ID:604717 | UMLS ID:C1858172 | Deafness, Autosomal Dominant 20 | MeSH ID:C565754 | MONDO:0011480" +BMGC_DS11719,BMG_DS040229,"MeSH ID:C565759 | MHC class I deficiency | MONDO:0011476 | Bare Lymphocyte Syndrome, Type I | UMLS ID:C1858266" +BMGC_DS11720,BMG_DS040230,"MONDO:0011475 | Charcot-Marie-Tooth disease, Type 4B2 | MeSH ID:C535421 | DOID:0110190 | Charcot-Marie-Tooth disease type 4B2 | OMIM ID:604563 | UMLS ID:C1858278" +BMGC_DS11721,BMG_DS040231,"Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma | UMLS ID:C1858279 | MeSH ID:C535422" +BMGC_DS11722,BMG_DS040233,UMLS ID:C1858301 | OMIM ID:611408 | MONDO:0011473 | Leber congenital amaurosis 5 | LEBER CONGENITAL AMAUROSIS 5 | OMIM ID:604537 +BMGC_DS11723,BMG_DS040234,MONDO:0011472 | MeSH ID:C536183 | Ectodermal Dysplasia-Skin Fragility Syndrome | epidermolysis bullosa simplex due to plakophilin deficiency | OMIM ID:604536 | UMLS ID:C1858302 +BMGC_DS11724,BMG_DS040235,UMLS ID:C1858303 | INFLAMMATORY BOWEL DISEASE 3 | OMIM ID:604519 | inflammatory bowel disease 3 | MONDO:0011471 +BMGC_DS11725,BMG_DS040237,"UMLS ID:C1858328 | congenital bile acid synthesis defect 4 | DOID:0111068 | MONDO:0008967 | Bile acid synthesis defect, congenital, 4 | OMIM ID:214950 | MeSH ID:C535444" +BMGC_DS11726,BMG_DS040238,"MeSH ID:C535717 | hereditary motor and sensory neuropathy, Okinawa type | OMIM ID:604484 | UMLS ID:C1858338 | MONDO:0011468 | Neuropathy, hereditary motor and sensory, Okinawa type" +BMGC_DS11727,BMG_DS040240,OMIM ID:611695 | SPINOCEREBELLAR ATAXIA 11 | spinocerebellar ataxia type 11 | DOID:0050961 | MONDO:0011464 | OMIM ID:604432 | UMLS ID:C1858351 +BMGC_DS11728,BMG_DS040242,OMIM ID:604416 | pyogenic arthritis-pyoderma gangrenosum-acne syndrome | MONDO:0011462 | UMLS ID:C1858361 +BMGC_DS11729,BMG_DS040243,"arrhythmogenic right ventricular dysplasia 6 | OMIM ID:604401 | MeSH ID:C565775 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 | MONDO:0011460 | UMLS ID:C1858378" +BMGC_DS11730,BMG_DS040244,"UMLS ID:C1858379 | OMIM ID:604400 | arrhythmogenic right ventricular dysplasia 5 | MONDO:0011459 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 | MeSH ID:C565776" +BMGC_DS11731,BMG_DS040245,"OMIM ID:614385 | colorectal cancer, hereditary nonpolyposis, type 7 | MONDO:0013725 | UMLS ID:C1858380" +BMGC_DS11732,BMG_DS040246,Leber Congenital Amaurosis 4 | MONDO:0011458 | UMLS ID:C1858386 | Leber congenital amaurosis 4 | OMIM ID:604393 | DOID:0110332 | MeSH ID:C565778 +BMGC_DS11733,BMG_DS040247,MONDO:0011457 | ataxia-telangiectasia-like disorder | UMLS ID:C1858391 +BMGC_DS11734,BMG_DS040248,NEPHRONOPHTHISIS 3 | OMIM ID:608002 | nephronophthisis 3 | OMIM ID:604387 | MONDO:0011456 | UMLS ID:C1858392 +BMGC_DS11735,BMG_DS040250,patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome | OMIM ID:604381 | MeSH ID:C565782 | UMLS ID:C1858420 | MONDO:0011454 | Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies +BMGC_DS11736,BMG_DS040252,"MeSH ID:C565784 | UMLS ID:C1858424 | Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency" +BMGC_DS11737,BMG_DS040253,"UMLS ID:C1858477 | MONDO:0020310 | Epilepsy, Partial, with Variable Foci | MeSH ID:C565785 | familial focal epilepsy with variable foci" +BMGC_DS11738,BMG_DS040255,"UMLS ID:C1858479 | MONDO:0011445 | hereditary spastic paraplegia 11 | Spastic paraplegia 11, autosomal recessive | OMIM ID:604360 | MeSH ID:C537483" +BMGC_DS11739,BMG_DS040256,"febrile seizures, familial, 4 | UMLS ID:C1858493 | OMIM ID:604352 | MONDO:0011443" +BMGC_DS11740,BMG_DS040257,"Advanced Sleep-Phase Syndrome, Familial | MeSH ID:C565789 | MONDO:0015609 | UMLS ID:C1858496 | advanced sleep phase syndrome" +BMGC_DS11741,BMG_DS040259,spinocerebellar ataxia type 12 | MONDO:0011439 | Spinocerebellar Ataxia 12 | UMLS ID:C1858501 | MeSH ID:C565790 | OMIM ID:604326 +BMGC_DS11742,BMG_DS040260,"Acne, Adult | UMLS ID:C1858506 | MeSH ID:C565791 | MONDO:0100486 | OMIM ID:604324 | adult acne" +BMGC_DS11743,BMG_DS040261,"OMIM ID:604321 | UMLS ID:C1858516 | MONDO:0011437 | DOID:0070291 | microcephaly 4, primary, autosomal recessive | OMIM ID:609173 | MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE | primary autosomal recessive microcephaly 4" +BMGC_DS11744,BMG_DS040262,UMLS ID:C1858517 | MONDO:0011436 | OMIM ID:604320 | SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 | autosomal recessive distal spinal muscular atrophy 1 +BMGC_DS11745,BMG_DS040263,"microcephaly 2, primary, autosomal recessive, with or without cortical malformations | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS | DOID:0070293 | UMLS ID:C1858535 | primary autosomal recessive microcephaly 2 with or without cortical malformations | OMIM ID:613583 | MONDO:0011435 | OMIM ID:604317" +BMGC_DS11746,BMG_DS040266,"MeSH ID:C565797 | UMLS ID:C1858538 | blepharophimosis - intellectual disability syndrome, Verloes type | OMIM ID:604314 | Blepharophimosis with Facial and Genital Anomalies and Mental Retardation | MONDO:0011432" +BMGC_DS11747,BMG_DS040267,OMIM ID:604308 | MONDO:0011431 | MASS syndrome | OVERLAP CONNECTIVE TISSUE DISEASE | UMLS ID:C1858556 +BMGC_DS11748,BMG_DS040268,"MeSH ID:C565798 | Rheumatoid Arthritis, Systemic Juvenile | MONDO:0019434 | UMLS ID:C1858558 | systemic-onset juvenile idiopathic arthritis" +BMGC_DS11749,BMG_DS040269,"UMLS ID:C1858562 | MONDO:0011428 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 | OMIM ID:604292 | OMIM ID:603273 | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3" +BMGC_DS11750,BMG_DS040271,"Cardiomyopathy, Dilated, 1h | MONDO:0011425 | OMIM ID:604288 | dilated cardiomyopathy 1H | MeSH ID:C536277 | UMLS ID:C1858591" +BMGC_DS11751,BMG_DS040272,MONDO:0011424 | MeSH ID:C565803 | OMIM ID:604287 | Carney triad | Carney Triad | UMLS ID:C1858592 +BMGC_DS11752,BMG_DS040273,"MONDO:0011423 | UMLS ID:C1858593 | Limb-girdle muscular dystrophy, type 2E | OMIM ID:604286 | autosomal recessive limb-girdle muscular dystrophy type 2E | MeSH ID:C535902" +BMGC_DS11753,BMG_DS040274,"UMLS ID:C1858656 | MONDO:0011420 | short stature due to partial GHR deficiency | Short Stature, Idiopathic, Autosomal | OMIM ID:604271 | MeSH ID:C565805" +BMGC_DS11754,BMG_DS040277,"hemochromatosis type 3 | DOID:0111030 | OMIM ID:604250 | OMIM ID:604720 | MONDO:0011417 | HEMOCHROMATOSIS, TYPE 3 | UMLS ID:C1858664" +BMGC_DS11755,BMG_DS040278,"UMLS ID:C1858672 | OMIM ID:604233 | DOID:0111302 | MONDO:0011416 | generalized epilepsy with febrile seizures plus 1 | OMIM ID:600235 | generalized epilepsy with febrile seizures plus, type 1 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1" +BMGC_DS11756,BMG_DS040279,"MONDO:0011461 | OMIM ID:604403 | OMIM ID:182389 | generalized epilepsy with febrile seizures plus 2 | UMLS ID:C1858673 | generalized epilepsy with febrile seizures plus, type 2 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 | DOID:0111294" +BMGC_DS11757,BMG_DS040280,"OMIM ID:137164 | UMLS ID:C1858674 | DOID:0111298 | familial febrile seizures 8 | OMIM ID:607681 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3" +BMGC_DS11758,BMG_DS040281,MONDO:0011415 | MeSH ID:C565814 | OMIM ID:604232 | Leber Congenital Amaurosis 3 | DOID:0110331 | Leber congenital amaurosis 3 | UMLS ID:C1858677 +BMGC_DS11759,BMG_DS040282,"CATARACT, AUTOSOMAL DOMINANT | cataract 9 multiple types | OMIM ID:604219 | MONDO:0011413 | UMLS ID:C1858679" +BMGC_DS11760,BMG_DS040283,MONDO:0011412 | UMLS ID:C1858680 | familial encephalopathy with neuroserpin inclusion bodies | DOID:0050831 | Familial dementia with neuroserpin inclusion bodies | Familial encephalopathy with neuroserpin inclusion bodies (disorder) | OMIM ID:604218 | Familial encephalopathy with neuroserpin inclusion bodies | MeSH ID:C536841 | SNOMEDCT ID:702421006 +BMGC_DS11761,BMG_DS040284,Chudley-Mccullough syndrome | MeSH ID:C535459 | Chudley-McCullough syndrome | UMLS ID:C1858695 | OMIM ID:604213 | MONDO:0011411 +BMGC_DS11762,BMG_DS040287,"MONDO:0011408 | OMIM ID:604187 | MeSH ID:C537482 | hereditary spastic paraplegia 10 | UMLS ID:C1858712 | Spastic paraplegia 10, autosomal dominant" +BMGC_DS11763,BMG_DS040288,"MeSH ID:C536386 | MONDO:0011407 | Facial paresis, hereditary, congenital | facial paresis, hereditary congenital, 2 | OMIM ID:604185 | UMLS ID:C1858717" +BMGC_DS11764,BMG_DS040289,UMLS ID:C1858723 | DOID:0060551 | Poikiloderma with Neutropenia | MONDO:0011405 | OMIM ID:604173 | MeSH ID:C565820 | poikiloderma with neutropenia +BMGC_DS11765,BMG_DS040291,OMIM ID:604169 | left ventricular noncompaction 1 | MONDO:0011403 | UMLS ID:C1858725 +BMGC_DS11766,BMG_DS040292,"congenital cataracts-facial dysmorphism-neuropathy syndrome | MONDO:0011402 | OMIM ID:604168 | MeSH ID:C565822 | UMLS ID:C1858726 | Congenital Cataracts, Facial Dysmorphism, And Neuropathy" +BMGC_DS11767,BMG_DS040294,"MeSH ID:C565824 | MONDO:0011400 | Cardiomyopathy, Dilated, 1g | dilated cardiomyopathy 1G | UMLS ID:C1858763 | OMIM ID:604145" +BMGC_DS11768,BMG_DS040295,"UMLS ID:C1858804 | MeSH ID:C565825 | Cerebellar Ataxia, Deafness, and Narcolepsy" +BMGC_DS11769,BMG_DS040296,"MONDO:0011396 | UMLS ID:C1858805 | loricrin keratoderma | Vohwinkel Syndrome, Variant Form | MeSH ID:C565826 | OMIM ID:604117" +BMGC_DS11770,BMG_DS040297,DOID:0111013 | OMIM ID:604116 | MeSH ID:C565827 | cone-rod dystrophy 3 | Cone-Rod Dystrophy 3 | UMLS ID:C1858806 | MONDO:0011395 +BMGC_DS11771,BMG_DS040298,"autosomal recessive nonsyndromic hearing loss 20 | OMIM ID:604060 | DEAFNESS, AUTOSOMAL RECESSIVE 20 | UMLS ID:C1858840 | MONDO:0011392" +BMGC_DS11772,BMG_DS040299,DOID:0080315;DOID:0080316 | megalencephalic leukoencephalopathy with subcortical cysts 1 | UMLS ID:C1858854 | megalencephalic leukoencephalopathy with subcortical cysts | MONDO:0011391 +BMGC_DS11773,BMG_DS040300,OMIM ID:603652 | UMLS ID:C1858915 | MONDO:0011390 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 | focal segmental glomerulosclerosis 2 | OMIM ID:603965 +BMGC_DS11774,BMG_DS040301,"OMIM ID:603964 | UMLS ID:C1858916 | autosomal dominant nonsyndromic hearing loss 16 | DEAFNESS, AUTOSOMAL DOMINANT 16 | MONDO:0011389" +BMGC_DS11775,BMG_DS040304,"UMLS ID:C1858968 | autoimmune lymphoproliferative syndrome type 2A | DOID:0110115 | MeSH ID:C565833 | Autoimmune Lymphoproliferative Syndrome, Type IIA | OMIM ID:603909 | MONDO:0011383" +BMGC_DS11776,BMG_DS040305,"MeSH ID:C565834 | OMIM ID:603902 | MONDO:0011381 | Beta Thalassemia, Dominant Inclusion Body Type | dominant beta-thalassemia | UMLS ID:C1858990" +BMGC_DS11777,BMG_DS040306,leukoencephalopathy with vanishing white matter | MONDO:0800448 | UMLS ID:C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | Leukoencephalopathies | MeSH ID:D056784 +BMGC_DS11778,BMG_DS040307,UMLS ID:C1859049 | MONDO:0020493 | CCHS WITH HIRSCHSPRUNG DISEASE | Haddad syndrome | OMIM ID:209880 | OMIM ID:603851 +BMGC_DS11779,BMG_DS040308,OMIM ID:603830 | LONG QT SYNDROME 3 | UMLS ID:C1859062 | MONDO:0011377 | OMIM ID:600163 | long QT syndrome 3 +BMGC_DS11780,BMG_DS040310,"Cleidocranial Dysplasia, Recessive Form | OMIM ID:216330 | UMLS ID:C1859080 | MONDO:0008994 | cleidocranial dysplasia, recessive form | MeSH ID:C565843" +BMGC_DS11781,BMG_DS040311,"cleft palate-stapes fixation-oligodontia syndrome | UMLS ID:C1859081 | MeSH ID:C565844 | Cleft Palate, Deafness, and Oligodontia | OMIM ID:216300 | MONDO:0008993" +BMGC_DS11782,BMG_DS040312,MeSH ID:C536541 | Verloove Vanhorick-Brubakk syndrome | OMIM ID:215850 | MONDO:0008991 | UMLS ID:C1859082 | Verloove-Vanhorick Brubakk syndrome +BMGC_DS11783,BMG_DS040313,"Novak syndrome | cleft larynx, posterior | OMIM ID:215800 | MeSH ID:C537851 | MONDO:0008990 | UMLS ID:C1859083" +BMGC_DS11784,BMG_DS040314,OMIM ID:215720 | Citrulline transport defect | MONDO:0008989 | MeSH ID:C536207 | citrulline transport defect | UMLS ID:C1859084 +BMGC_DS11785,BMG_DS040315,"OMIM ID:215600 | UMLS ID:C1859088 | COPPER TOXICOSIS, IDIOPATHIC" +BMGC_DS11786,BMG_DS040316,MONDO:0008986 | UMLS ID:C1859089 | OMIM ID:215550 | circumvallate placenta syndrome | Circumvallate Placenta Syndrome | MeSH ID:C565847 +BMGC_DS11787,BMG_DS040318,infantile choroidocerebral calcification syndrome | OMIM ID:215480 | MONDO:0008981 | MeSH ID:C535357 | Choroid plexus calcification with mental retardation | UMLS ID:C1859092 +BMGC_DS11788,BMG_DS040319,"MONDO:0008980 | ataxia-hypogonadism-choroidal dystrophy syndrome | OMIM ID:215470 | MeSH ID:C565850 | UMLS ID:C1859093 | Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | DOID:0111265 | Boucher-Neuhauser syndrome" +BMGC_DS11789,BMG_DS040320,"OMIM ID:215450 | MeSH ID:C565851 | chorea, benign familial | MONDO:0008979 | Chorea, Benign Familial | UMLS ID:C1859098" +BMGC_DS11790,BMG_DS040322,"Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome | UMLS ID:C1859104 | MONDO:0008976 | chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome | OMIM ID:215250 | MeSH ID:C565852" +BMGC_DS11791,BMG_DS040324,"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 | MONDO:0008972 | rhizomelic chondrodysplasia punctata type 1 | OMIM ID:601757 | OMIM ID:215100 | UMLS ID:C1859133" +BMGC_DS11792,BMG_DS040325,chondrodysplasia calcificans Metaphysealis | UMLS ID:C1859147 | MONDO:0008971 | MeSH ID:C565855 | Chondrodysplasia Calcificans Metaphysealis | OMIM ID:215050 +BMGC_DS11793,BMG_DS040326,"UMLS ID:C1859148 | MeSH ID:C537914 | DOID:0060387 | MONDO:0008970 | OMIM ID:215045 | Chondrodysplasia, blomstrand type | chondrodysplasia Blomstrand type" +BMGC_DS11794,BMG_DS040329,"OMIM ID:214450 | Griscelli syndrome type 1 | GRISCELLI SYNDROME, TYPE 1 | MONDO:0008962 | UMLS ID:C1859194 | DOID:0060832 | OMIM ID:160777" +BMGC_DS11795,BMG_DS040330,"Charcot-Marie-Tooth disease type 4A | MONDO:0008961 | DOID:0110185 | UMLS ID:C1859198 | MeSH ID:C535419 | Charcot-Marie-Tooth disease, Type 4A | OMIM ID:214400" +BMGC_DS11796,BMG_DS040331,"UMLS ID:C1859209 | MONDO:0008958 | Klippel Feil syndrome recessive type | OMIM ID:214300 | Klippel-Feil syndrome 2, autosomal recessive | MeSH ID:C536888" +BMGC_DS11797,BMG_DS040333,MeSH ID:C565862 | UMLS ID:C1859252 | Cerebrofaciothoracic Dysplasia +BMGC_DS11798,BMG_DS040335,Pelizaeus-Merzbacher like brain sclerosis | cerebral sclerosis similar to Pelizaeus-Merzbacher disease | MeSH ID:C536318 | MONDO:0008950 | UMLS ID:C1859258 | OMIM ID:213900 +BMGC_DS11799,BMG_DS040337,"Cerebral Angiopathy, Dysphoric | MONDO:0008946 | MeSH ID:C565864 | UMLS ID:C1859283 | OMIM ID:213500 | cerebral angiopathy, dysphoric" +BMGC_DS11800,BMG_DS040338,"DOID:0080061 | MONDO:0008943 | OMIM ID:613036 | UMLS ID:C1859298 | autosomal recessive spinocerebellar ataxia 2 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 | OMIM ID:213200" +BMGC_DS11801,BMG_DS040339,hepatic fibrosis-renal cysts-intellectual disability syndrome | OMIM ID:213010 | MONDO:0008941 | UMLS ID:C1859300 | Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome | MeSH ID:C565867 +BMGC_DS11802,BMG_DS040340,"Cerebellar Ataxia, Benign, with Thermoanalgesia | UMLS ID:C1859303 | MONDO:0008937 | OMIM ID:212890 | MeSH ID:C565868 | cerebellar ataxia, benign, with thermoanalgesia" +BMGC_DS11803,BMG_DS040341,MeSH ID:C565869 | OMIM ID:212850 | Cerebellar Ataxia and Neurosensory Deafness | cerebellar ataxia and neurosensory deafness | UMLS ID:C1859304 | MONDO:0008936 +BMGC_DS11804,BMG_DS040342,MONDO:0008935 | cerebellar ataxia-hypogonadism syndrome | Gordon Holmes syndrome | MeSH ID:C565870 | Cerebellar Ataxia and Hypogonadotropic Hypogonadism | DOID:0111587 | OMIM ID:212840 | UMLS ID:C1859305 +BMGC_DS11805,BMG_DS040344,Cephalin Lipidosis | MeSH ID:C565872 | OMIM ID:212800 | MONDO:0008933 | cephalin lipidosis | UMLS ID:C1859307 +BMGC_DS11806,BMG_DS040345,OMIM ID:212790 | PREMATURE CENTROMERE DIVISION | premature centromere division | UMLS ID:C1859308 | MONDO:0008932 +BMGC_DS11807,BMG_DS040346,UMLS ID:C1859309 | OMIM ID:212780 | Cenani-Lenz syndactyly syndrome | Syndactyly Cenani Lenz type | MONDO:0008931 | MeSH ID:C538150 +BMGC_DS11808,BMG_DS040347,"OMIM ID:212750 | UMLS ID:C1859310 | MONDO:0008930 | celiac disease, susceptibility to, 1" +BMGC_DS11809,BMG_DS040348,"Microphthalmia, Isolated, with Cataract 2 | MeSH ID:C565876 | UMLS ID:C1859311" +BMGC_DS11810,BMG_DS040350,MONDO:0008924 | UMLS ID:C1859315 | MeSH ID:C538281 | Cataract and congenital ichthyosis | congenital cataract-ichthyosis syndrome | OMIM ID:212400 +BMGC_DS11811,BMG_DS040351,autosomal recessive palmoplantar keratoderma and congenital alopecia | MONDO:0008923 | OMIM ID:212360 | CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME | palmoplantar keratoderma and congenital alopecia 2 | DOID:0111245 | UMLS ID:C1859316 +BMGC_DS11812,BMG_DS040352,MONDO:0008922 | UMLS ID:C1859317 | MeSH ID:C538280 | Cataract and cardiomyopathy | DOID:0080132 | OMIM ID:212350 | Sengers syndrome +BMGC_DS11813,BMG_DS040353,"carnitine deficiency, myopathic | MeSH ID:C536100 | MONDO:0008920 | Myopathic carnitine deficiency | OMIM ID:212160 | UMLS ID:C1859318" +BMGC_DS11814,BMG_DS040355,Cardiomyopathy Associated With Myopathy And Sudden Death | OMIM ID:212130 | MeSH ID:C565881 | MONDO:0008916 | cardiomyopathy associated with myopathy and sudden death | UMLS ID:C1859328 +BMGC_DS11815,BMG_DS040356,MeSH ID:C535577 | OMIM ID:212100 | cardioauditory syndrome of Sanchez Cascos | UMLS ID:C1859329 | MONDO:0008914 | Cardioauditory syndrome of Sanchez Cascos +BMGC_DS11816,BMG_DS040358,Cardiac Septal Defects with Coarctation of the Aorta | OMIM ID:212090 | MONDO:0008912 | UMLS ID:C1859331 | cardiac septal defects with coarctation of the aorta | MeSH ID:C565883 +BMGC_DS11817,BMG_DS040359,"UMLS ID:C1859332 | MeSH ID:C565884 | cardiac lipidosis, familial | OMIM ID:212080 | MONDO:0008911 | Cardiac Lipidosis, Familial" +BMGC_DS11818,BMG_DS040360,"UMLS ID:C1859353 | MeSH ID:C537979 | MONDO:0008905 | OMIM ID:212050 | Candidiasis, Familial, 2 | predisposition to invasive fungal disease due to CARD9 deficiency" +BMGC_DS11819,BMG_DS040361,"OMIM ID:211990 | MONDO:0008904 | MeSH ID:C537977 | camptomelic syndrome, long-limb type | UMLS ID:C1859354 | Camptomelic syndrome long limb type" +BMGC_DS11820,BMG_DS040363,MeSH ID:C536953 | SNOMEDCT ID:719946008 | MONDO:0008901 | OMIM ID:211960 | Tel Hashomer camptodactyly syndrome | UMLS ID:C1859356 | Tel Hashomer camptodactyly syndrome (disorder) +BMGC_DS11821,BMG_DS040365,"Campomelia Cumming type | SNOMEDCT ID:720599002 | OMIM ID:211890 | campomelia, Cumming type | UMLS ID:C1859371 | MONDO:0008896 | MeSH ID:C537966 | Campomelia Cumming type (disorder) | Cumming syndrome" +BMGC_DS11822,BMG_DS040366,UMLS ID:C1859372 | hereditary arterial and articular multiple calcification syndrome | OMIM ID:211800 | MONDO:0008895 | MeSH ID:C565891 | Calcification of Joints and Arteries +BMGC_DS11823,BMG_DS040368,"MONDO:0008883 | UMLS ID:C1859393 | Brachydactyly, Type A2, With Microcephaly | brachydactyly, type A2, with microcephaly | OMIM ID:211369 | MeSH ID:C565894" +BMGC_DS11824,BMG_DS040371,SNOMEDCT ID:711153001 | Bowen-Conradi syndrome | Bowen-Conradi Hutterite syndrome | MeSH ID:C537081 | Bowen-Conradi syndrome (disorder) | Bowen Hutterite syndrome | OMIM ID:211180 | UMLS ID:C1859405 | Hutterite syndrome | MONDO:0008879 | DOID:0050684 +BMGC_DS11825,BMG_DS040373,"Blepharophimosis with ptosis, syndactyly, and short stature | UMLS ID:C1859432 | MONDO:0008875 | blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome | MeSH ID:C536235 | OMIM ID:210745" +BMGC_DS11826,BMG_DS040375,"UMLS ID:C1859452 | OMIM ID:601428 | OMIM ID:210710 | MONDO:0008871 | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | microcephalic osteodysplastic primordial dwarfism type I" +BMGC_DS11827,BMG_DS040376,"OMIM ID:210700 | MeSH ID:C535448 | MONDO:0008870 | bird headed-dwarfism, Montreal type | Bird headed dwarfism Montreal type | UMLS ID:C1859468" +BMGC_DS11828,BMG_DS040377,DOID:0050664 | OMIM ID:608614 | OMIM ID:210370 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | UMLS ID:C1859486 | MONDO:0008865 | Bietti crystalline corneoretinal dystrophy +BMGC_DS11829,BMG_DS040378,UMLS ID:C1859487 | MeSH ID:C565902 | OMIM ID:210350 | Biemond syndrome type 2 | MONDO:0008864 | Biemond syndrome II +BMGC_DS11830,BMG_DS040379,DOID:0080580 | 3-methylcrotonyl-CoA carboxylase 2 deficiency | OMIM ID:210210 | MeSH ID:C535309 | 3-methylcrotonyl CoA carboxylase 2 deficiency | MONDO:0008862 | UMLS ID:C1859499 +BMGC_DS11831,BMG_DS040380,"beta-aminoisobutyric acid, urinary excretion of | Beta-Aminoisobutyric Acid, Urinary Excretion of | MONDO:0008860 | UMLS ID:C1859518 | MeSH ID:C565904 | OMIM ID:210100" +BMGC_DS11832,BMG_DS040381,"Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification | MeSH ID:C565905 | berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification | UMLS ID:C1859519 | MONDO:0008859 | OMIM ID:210050" +BMGC_DS11833,BMG_DS040382,"Hydrocephalus, cardiac malformation, dense bone syndrome | Beemer lethal malformation syndrome | Beemer-Ertbruggen syndrome | UMLS ID:C1859526 | SNOMEDCT ID:717859007 | Beemer Ertbruggen syndrome | Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | MeSH ID:C537668 | MONDO:0008857 | OMIM ID:209970" +BMGC_DS11834,BMG_DS040387,"UMLS ID:C1859535 | MONDO:0971013 | MHC class II deficiency 2 | Bare Lymphocyte Syndrome, Type II, Complementation Group B | MeSH ID:C565910 | OMIM ID:620815" +BMGC_DS11835,BMG_DS040388,"OMIM ID:620816 | MONDO:0971014 | UMLS ID:C1859536 | MeSH ID:C565910 | MHC class II deficiency 3 | Bare Lymphocyte Syndrome, Type II, Complementation Group C" +BMGC_DS11836,BMG_DS040389,"MHC class II deficiency 4 | OMIM ID:620817 | UMLS ID:C1859537 | MeSH ID:C565910 | Bare Lymphocyte Syndrome, Type II, Complementation Group D | MONDO:0971015" +BMGC_DS11837,BMG_DS040390,"MONDO:0971016 | MHC class II deficiency 5 | MeSH ID:C565910 | OMIM ID:620818 | UMLS ID:C1859538 | Bare Lymphocyte Syndrome, Type II, Complementation Group E" +BMGC_DS11838,BMG_DS040391,MeSH ID:C537911 | MONDO:0010832 | Bardet-Biedl syndrome 3 | OMIM ID:600151 | DOID:0110125 | UMLS ID:C1859564 +BMGC_DS11839,BMG_DS040392,OMIM ID:615984 | UMLS ID:C1859565 | OMIM ID:607590 | MONDO:0014435 | Bardet-Biedl syndrome 7 | BARDET-BIEDL SYNDROME 7 +BMGC_DS11840,BMG_DS040393,MONDO:0014436 | OMIM ID:608132 | OMIM ID:615985 | Bardet-Biedl syndrome 8 | BARDET-BIEDL SYNDROME 8 | UMLS ID:C1859566 +BMGC_DS11841,BMG_DS040394,Bardet-Biedl syndrome 9 | BARDET-BIEDL SYNDROME 9 | UMLS ID:C1859567 | OMIM ID:615986 | MONDO:0014437 | OMIM ID:607968 +BMGC_DS11842,BMG_DS040395,OMIM ID:615987 | OMIM ID:610148 | MONDO:0014438 | UMLS ID:C1859568 | Bardet-Biedl syndrome 10 | BARDET-BIEDL SYNDROME 10 +BMGC_DS11843,BMG_DS040396,BARDET-BIEDL SYNDROME 11 | OMIM ID:602290 | MONDO:0014439 | OMIM ID:615988 | Bardet-Biedl syndrome 11 | UMLS ID:C1859569 +BMGC_DS11844,BMG_DS040397,BARDET-BIEDL SYNDROME 12 | MONDO:0014440 | Bardet-Biedl syndrome 12 | OMIM ID:610683 | OMIM ID:615989 | UMLS ID:C1859570 +BMGC_DS11845,BMG_DS040398,"MeSH ID:C565923 | MONDO:0008850 | UMLS ID:C1859591 | OMIM ID:209770 | Cooper-Jabs syndrome | Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation" +BMGC_DS11846,BMG_DS040399,ATRICHIA WITH PAPULAR LESIONS | UMLS ID:C1859592 | OMIM ID:602302 | OMIM ID:209500 | atrichia with papular lesions | MONDO:0008847 +BMGC_DS11847,BMG_DS040400,UMLS ID:C1859594 | MeSH ID:C565926 | MONDO:0008845 | atonic-astatic syndrome of Foerster | OMIM ID:209100 | Atonic-Astatic Syndrome of Foerster +BMGC_DS11848,BMG_DS040401,"MONDO:0008844 | MeSH ID:C565927 | Athrombia, essential | Athrombia, Essential | OMIM ID:209050 | UMLS ID:C1859595" +BMGC_DS11849,BMG_DS040402,"MONDO:0008843 | MeSH ID:C565928 | atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome | Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease | UMLS ID:C1859596 | OMIM ID:209010" +BMGC_DS11850,BMG_DS040403,"ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | OMIM ID:208920 | UMLS ID:C1859598 | DOID:0050754 | MONDO:0008842 | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | OMIM ID:606350 | ataxia with oculomotor apraxia type 1" +BMGC_DS11851,BMG_DS040405,"UMLS ID:C1859645 | OMIM ID:208750 | ataxia, deafness, and cardiomyopathy | MONDO:0008837 | Ataxia, Deafness, and Cardiomyopathy | MeSH ID:C565932" +BMGC_DS11852,BMG_DS040406,Ataxia with Myoclonic Epilepsy and Presenile Dementia | UMLS ID:C1859646 | MeSH ID:C565933 | MONDO:0008836 | OMIM ID:208700 | ataxia with myoclonic epilepsy and presenile dementia +BMGC_DS11853,BMG_DS040407,"UMLS ID:C1859647 | OMIM ID:208600 | MeSH ID:C565934 | asthma, short stature, and elevated IgA | MONDO:0008835 | Asthma, Short Stature, and Elevated IgA" +BMGC_DS11854,BMG_DS040408,"MeSH ID:C565935 | asthma, nasal polyps, and aspirin intolerance | UMLS ID:C1859648 | MONDO:0008834 | DOID:0111579 | OMIM ID:208550 | Asthma, Nasal Polyps, And Aspirin Intolerance" +BMGC_DS11855,BMG_DS040409,camptodactyly-arthropathy-coxa vara-pericarditis syndrome | OMIM ID:604283 | DOID:0090127 | UMLS ID:C1859690 | OMIM ID:208250 | CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME | MONDO:0008828 +BMGC_DS11856,BMG_DS040411,MONDO:0015241 | Kuskokwim disease | MeSH ID:C538124 | UMLS ID:C1859709 | OMIM ID:208200 | arthrogryposis-like syndrome +BMGC_DS11857,BMG_DS040412,"UMLS ID:C1859710 | arthrogryposis-hyperkeratosis syndrome, lethal form | Johnston Aarons Schelley syndrome | Arthrogryposis hyperkeratosis syndrome lethal form (disorder) | OMIM ID:208158 | MONDO:0008826 | MeSH ID:C535883 | Arthrogryposis hyperkeratosis syndrome lethal form | SNOMEDCT ID:726620005" +BMGC_DS11858,BMG_DS040413,MONDO:0008825 | UMLS ID:C1859711 | MeSH ID:C538401 | arthrogryposis multiplex congenita-whistling face syndrome | OMIM ID:208155 | Arthrogryposis multiplex congenita whistling face +BMGC_DS11859,BMG_DS040414,Arthrogryposis multiplex congenita neurogenic type | UMLS ID:C1859721 | DOID:0090124 | neurogenic-type arthrogryposis multiplex congenita-2 | MeSH ID:C536614 +BMGC_DS11860,BMG_DS040415,"UMLS ID:C1859722 | OMIM ID:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | MONDO:0008822 | MeSH ID:C535382 | arthrogryposis, renal dysfunction, and cholestasis 1" +BMGC_DS11861,BMG_DS040418,"arteriosclerosis, severe juvenile | MeSH ID:C565941 | MONDO:0008819 | UMLS ID:C1859725 | OMIM ID:208060 | Arteriosclerosis, Severe Juvenile" +BMGC_DS11862,BMG_DS040419,OMIM ID:208050 | OMIM ID:606145 | MONDO:0008818 | arterial tortuosity syndrome | ARTERIAL TORTUOSITY SYNDROME | UMLS ID:C1859726 +BMGC_DS11863,BMG_DS040420,DOID:0050644 | Arterial calcification of infancy | UMLS ID:C1859727 | arterial calcification of infancy | MeSH ID:C537440 | MONDO:0018870 +BMGC_DS11864,BMG_DS040421,"Coronary Sclerosis, Medial, of Infancy | MeSH ID:C565944 | UMLS ID:C1859728" +BMGC_DS11865,BMG_DS040422,"MONDO:0008809 | MeSH ID:C565945 | OMIM ID:207740 | Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy | UMLS ID:C1859752 | polyneuropathy-hand defect syndrome" +BMGC_DS11866,BMG_DS040423,aplasia cutis congenita-intestinal lymphangiectasia syndrome | OMIM ID:207731 | Aplasia cutis congenita intestinal lymphangiectasia | MONDO:0008808 | UMLS ID:C1859753 | MeSH ID:C537788 +BMGC_DS11867,BMG_DS040425,"MONDO:0008802 | OMIM ID:207300 | antithrombin, familial hemorrhagic diathesis due to | Antithrombin, Familial Hemorrhagic Diathesis due to | UMLS ID:C1859761 | MeSH ID:C565947" +BMGC_DS11868,BMG_DS040426,MONDO:0008801 | UMLS ID:C1859762 | anosmia for isobutyric acid | OMIM ID:207000 +BMGC_DS11869,BMG_DS040428,"MONDO:0008799 | UMLS ID:C1859773 | anophthalmia/microphthalmia-esophageal atresia syndrome | MeSH ID:C565948 | Microphthalmia, Syndromic 3 | DOID:0111801 | OMIM ID:206900 | syndromic microphthalmia 3" +BMGC_DS11870,BMG_DS040429,MeSH ID:C565949 | Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System | UMLS ID:C1859774 +BMGC_DS11871,BMG_DS040430,MeSH ID:C000632444 | Aniridia renal agenesis psychomotor retardation | OMIM ID:206750 | aniridia-renal agenesis-psychomotor retardation syndrome | UMLS ID:C1859782 | MONDO:0008796 +BMGC_DS11872,BMG_DS040431,"OMIM ID:206570 | Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert | MeSH ID:C536367 | MONDO:0008793 | angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert | UMLS ID:C1859783" +BMGC_DS11873,BMG_DS040432,"MONDO:0008792 | familial angiolipomatosis | Angiolipomatosis, Familial | UMLS ID:C1859784 | OMIM ID:206550 | MeSH ID:C565951" +BMGC_DS11874,BMG_DS040433,"UMLS ID:C1859785 | OMIM ID:206400 | MONDO:0008790 | anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism | MeSH ID:C565952 | Anemia, Nonspherocytic Hemolytic, possibly due to Defect in Porphyrin Metabolism" +BMGC_DS11875,BMG_DS040434,"OMIM ID:206300 | UMLS ID:C1859786 | MONDO:0008789 | MeSH ID:C565953 | anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane | Anemia, Nonspherocytic Hemolytic, associated with Abnormality of Red Cell Membrane" +BMGC_DS11876,BMG_DS040436,MeSH ID:C565955 | OMIM ID:205250 | MONDO:0008782 | UMLS ID:C1859805 | Amyotrophic Lateral Sclerosis With Polyglucosan Bodies | amyotrophic lateral sclerosis with polyglucosan bodies +BMGC_DS11877,BMG_DS040437,"OMIM ID:205200 | Amyotrophic Lateral Sclerosis, Juvenile, with Dementia | UMLS ID:C1859806 | MeSH ID:C565956 | juvenile amyotrophic lateral sclerosis with dementia | MONDO:0008781" +BMGC_DS11878,BMG_DS040438,"UMLS ID:C1859807 | MeSH ID:C565957 | Amyotrophic Lateral Sclerosis 2, Juvenile | MONDO:0008780 | OMIM ID:205100 | amyotrophic lateral sclerosis type 2, juvenile" +BMGC_DS11879,BMG_DS040439,"UMLS ID:C1859815 | MeSH ID:C565958 | amyloidosis of gingiva and conjunctiva, with intellectual disability | MONDO:0008776 | OMIM ID:204850 | Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation" +BMGC_DS11880,BMG_DS040440,"UMLS ID:C1859816 | MONDO:0008775 | Amobarbital, deficient N-hydroxylation of | OMIM ID:204800 | Amobarbital, Deficient N-Hydroxylation of | MeSH ID:C565959" +BMGC_DS11881,BMG_DS040441,OMIM ID:204750 | 2-aminoadipic 2-oxoadipic aciduria (disorder) | OMIM ID:245130 | MONDO:0008774 | Alpha-aminoadipic aciduria | UMLS ID:C1859817 | 2-aminoadipic 2-oxoadipic aciduria | SNOMEDCT ID:782918002 +BMGC_DS11882,BMG_DS040442,"amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis | MeSH ID:C565960 | OMIM ID:204730 | Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis | MONDO:0008773 | UMLS ID:C1859818" +BMGC_DS11883,BMG_DS040443,"MeSH ID:C536601 | OMIM ID:204100 | Leber congenital amaurosis 2 | Amaurosis congenita of Leber, type 2 | UMLS ID:C1859844 | MONDO:0008765" +BMGC_DS11884,BMG_DS040444,UMLS ID:C1859850 | Alpha-2-Deficient Collagen Disease | MeSH ID:C565963 | MONDO:0008761 | OMIM ID:203760 | obsolete alpha-2-deficient collagen disease +BMGC_DS11885,BMG_DS040445,OMIM ID:203655 | alopecia universalis congenita | MONDO:0008757 | UMLS ID:C1859877 +BMGC_DS11886,BMG_DS040446,MONDO:0021035 | UMLS ID:C1859878 | MeSH ID:C565965 | Alopecia-Mental Retardation Syndrome 1 | alopecia-intellectual disability syndrome 1 | OMIM ID:203650 +BMGC_DS11887,BMG_DS040447,microcephaly-albinism-digital anomalies syndrome | OMIM ID:203340 | UMLS ID:C1859910 | MeSH ID:C537322 | Microcephaly albinism digital anomalies syndrome | MONDO:0008750 +BMGC_DS11888,BMG_DS040448,OMIM ID:203000 | UMLS ID:C1859964 | MeSH ID:C535967 | alar cartilages hypoplasia-coloboma-telecanthus syndrome | MONDO:0008744 | Coloboma of Alar-nasal cartilages with telecanthus +BMGC_DS11889,BMG_DS040450,"MONDO:0042490 | neutropenia, severe congenital, 1, autosomal dominant | UMLS ID:C1859966 | Neutropenia, Severe Congenital, Autosomal Dominant 1 | OMIM ID:202700 | MeSH ID:C565969" +BMGC_DS11890,BMG_DS040452,agenesis of cerebral white matter | MONDO:0008739 | OMIM ID:202600 | UMLS ID:C1859969 +BMGC_DS11891,BMG_DS040453,"MONDO:0016638 | familial hypodysfibrinogenemia | MeSH ID:C565970 | Hypodysfibrinogenemia, Congenital | UMLS ID:C1859970" +BMGC_DS11892,BMG_DS040454,adrenocortical unresponsiveness to ACTH with postreceptor defect | MeSH ID:C565971 | OMIM ID:202355 | Adrenocortical Unresponsiveness To Acth With Postreceptor Defect | UMLS ID:C1859971 | MONDO:0008735 +BMGC_DS11893,BMG_DS040455,"adrenocortical carcinoma, hereditary | OMIM ID:202300 | MONDO:0008734 | UMLS ID:C1859972" +BMGC_DS11894,BMG_DS040456,"MONDO:0008732 | Adrenal Hypoplasia, Cytomegalic Type | adrenal hypoplasia, cytomegalic type | OMIM ID:202155 | MeSH ID:C564543 | UMLS ID:C1859977" +BMGC_DS11895,BMG_DS040457,"Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone | MONDO:0008731 | familial adrenal hypoplasia with absent pituitary luteinizing hormone | OMIM ID:202150 | MeSH ID:C565976 | UMLS ID:C1859978" +BMGC_DS11896,BMG_DS040458,"Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency | UMLS ID:C1859995 | MeSH ID:C565977" +BMGC_DS11897,BMG_DS040459,MONDO:0013310 | UMLS ID:C1860042 | OMIM ID:613571 | MeSH ID:D054882 | congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Antley-Bixler Syndrome Phenotype | Antley-Bixler Syndrome with Disordered Steroidogenesis +BMGC_DS11898,BMG_DS040460,UMLS ID:C1860105 | OMIM ID:MTHU014753 | Severe short-limb dwarfism +BMGC_DS11899,BMG_DS040461,MeSH ID:C538186 | MONDO:0008715 | UMLS ID:C1860118 | Acrofrontofacionasal dysostosis syndrome | DOID:0060226 | acrofrontofacionasal dysostosis +BMGC_DS11900,BMG_DS040462,Acrofacial dysostosis Rodriguez type | MONDO:0008714 | OMIM ID:201170 | Acrofacial dysostosis Rodriguez type (disorder) | UMLS ID:C1860119 | acrofacial dysostosis Rodriguez type | SNOMEDCT ID:720430002 | MeSH ID:C538183 | DOID:0060383 +BMGC_DS11901,BMG_DS040464,MeSH ID:C536203 | MONDO:0009742 | Elejalde Disease | OMIM ID:256710 | UMLS ID:C1860157 | neuroectodermal melanolysosomal disease +BMGC_DS11902,BMG_DS040465,SNOMEDCT ID:720414005 | Acro-renal-mandibular syndrome | MeSH ID:C535665 | OMIM ID:200980 | acro-renal-mandibular syndrome | Acrorenal mandibular syndrome | UMLS ID:C1860166 | Acrorenal mandibular syndrome (disorder) | Split hand and split foot with mandibular hypoplasia syndrome | MONDO:0008707 +BMGC_DS11903,BMG_DS040466,UMLS ID:C1860167 | MONDO:0008706 | MeSH ID:C538170 | SNOMEDCT ID:722280000 | OMIM ID:200970 | Ackerman syndrome (disorder) | Ackerman syndrome +BMGC_DS11904,BMG_DS040467,MONDO:0008704 | MeSH ID:C565984 | short-limb skeletal dysplasia with severe combined immunodeficiency | Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency | UMLS ID:C1860168 | OMIM ID:200900 +BMGC_DS11905,BMG_DS040468,achalasia microcephaly syndrome | Achalasia microcephaly | MONDO:0008699 | UMLS ID:C1860212 | DOID:0050796 | MeSH ID:C536010 | OMIM ID:200450 +BMGC_DS11906,BMG_DS040469,"MONDO:0100457 | achalasia, familial esophageal | UMLS ID:C1860213 | Achalasia, familial esophageal | MeSH ID:C536011 | OMIM ID:200400" +BMGC_DS11907,BMG_DS040470,acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome | UMLS ID:C1860215 | Acanthosis nigricans muscle cramps acral enlargement | MONDO:0008696 | OMIM ID:200170 | MeSH ID:C536000 +BMGC_DS11908,BMG_DS040471,OMIM ID:200110 | DOID:0060550 | UMLS ID:C1860224 | OMIM ID:607556 | ablepharon macrostomia syndrome | ABLEPHARON-MACROSTOMIA SYNDROME | MONDO:0008693 +BMGC_DS11909,BMG_DS040472,"UMLS ID:C1860228 | OMIM ID:194470 | zinc, elevated plasma | MONDO:0008691" +BMGC_DS11910,BMG_DS040474,MONDO:0008687 | Woronets trait | OMIM ID:194320 | UMLS ID:C1860237 +BMGC_DS11911,BMG_DS040475,autosomal dominant wooly hair | OMIM ID:194300 | MONDO:0020717 | UMLS ID:C1860238 +BMGC_DS11912,BMG_DS040476,MeSH ID:C565991 | UMLS ID:C1860265 | MONDO:0008683 | OMIM ID:194090 | Wilms tumor 3 | Wilms Tumor 3 +BMGC_DS11913,BMG_DS040477,"Whispering dysphonia, hereditary | MeSH ID:C536698 | UMLS ID:C1860315" +BMGC_DS11914,BMG_DS040478,"MONDO:0008671 | WAARDENBURG SYNDROME, TYPE IIA | OMIM ID:193510 | UMLS ID:C1860339 | Waardenburg syndrome type 2A" +BMGC_DS11915,BMG_DS040480,SNOMEDCT ID:771263004 | Tucker syndrome | Ptosis and vocal cord paralysis syndrome | Ptosis and vocal cord paralysis syndrome (disorder) | UMLS ID:C1860403 | MONDO:0008665 | OMIM ID:193240 | MeSH ID:C536923 | ptosis-vocal cord paralysis syndrome +BMGC_DS11916,BMG_DS040481,snowflake vitreoretinal degeneration | MeSH ID:C536677 | Snowflake vitreoretinal degeneration | UMLS ID:C1860405 | OMIM ID:193230 | DOID:0111570 | MONDO:0008663 +BMGC_DS11917,BMG_DS040482,"UMLS ID:C1860446 | congenital vertical talus, bilateral | MONDO:0017547" +BMGC_DS11918,BMG_DS040483,MeSH ID:C566002 | OMIM ID:192900 | UMLS ID:C1860463 | vertebral hypoplasia with lumbar kyphosis | MONDO:0008651 | Vertebral Hypoplasia With Lumbar Kyphosis +BMGC_DS11919,BMG_DS040484,UMLS ID:C1860464 | OMIM ID:192800 | MONDO:0008650 | MeSH ID:C536344 | posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome | Vertebral fusion posterior lumbosacral blepharoptosis +BMGC_DS11920,BMG_DS040485,"UMLS ID:C1860465 | Venular Insufficiency, Systemic | venular insufficiency, systemic | MeSH ID:C566004 | MONDO:0008649 | OMIM ID:192700" +BMGC_DS11921,BMG_DS040486,OMIM ID:192445 | ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome | Stoll Alembik Dott syndrome | MeSH ID:C537497 | MONDO:0008645 | UMLS ID:C1860471 +BMGC_DS11922,BMG_DS040488,"MeSH ID:C566007 | MONDO:0008641 | retinal vasculopathy with cerebral leukodystrophy | OMIM ID:192315 | DOID:0111567 | UMLS ID:C1860518 | Vasculopathy, Retinal, With Cerebral Leukodystrophy | retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" +BMGC_DS11923,BMG_DS040489,"vasculitis, lymphocytic, nodular | MONDO:0008640 | UMLS ID:C1860519 | OMIM ID:192310 | Vasculitis, Lymphocytic, Nodular | MeSH ID:C566008" +BMGC_DS11924,BMG_DS040492,"OMIM ID:191950 | UMLS ID:C1860551 | MONDO:0008634 | urticaria, familial localized heat | MeSH ID:C566011 | Urticaria, Familial Localized Heat" +BMGC_DS11925,BMG_DS040493,"UMLS ID:C1860586 | MeSH ID:C566012 | Ureter, Bifid Or Double | OMIM ID:191550 | ureter, bifid or double | MONDO:0008626" +BMGC_DS11926,BMG_DS040495,Upington disease | OMIM ID:191520 | SNOMEDCT ID:719041000 | MONDO:0008624 | Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) | UMLS ID:C1860596 | MeSH ID:C536472 | Hip dysplasia with enchondromata and ecchondroma syndrome +BMGC_DS11927,BMG_DS040496,MeSH ID:C566014 | Undritz Anomaly | UMLS ID:C1860604 | Undritz anomaly | MONDO:0008623 | OMIM ID:191500 +BMGC_DS11928,BMG_DS040498,Ulna metaphyseal dysplasia syndrome (disorder) | OMIM ID:191420 | Rosenberg-Lohr syndrome | Ulna metaphyseal dysplasia syndrome | SNOMEDCT ID:715242008 | MONDO:0008619 | UMLS ID:C1860615 | ulna metaphyseal dysplasia syndrome | MeSH ID:C536935 +BMGC_DS11929,BMG_DS040500,tune deafness | MONDO:0008615 | MeSH ID:C566019 | OMIM ID:191200 | UMLS ID:C1860646 | Tune Deafness +BMGC_DS11930,BMG_DS040502,MeSH ID:C566021 | DOID:0080325 | tuberous sclerosis 2 | OMIM ID:613254 | MONDO:0013199 | UMLS ID:C1860707 | Tuberous Sclerosis 2 +BMGC_DS11931,BMG_DS040503,"MONDO:0013369 | DOID:0110313 | UMLS ID:C1860752 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 | hypertrophic cardiomyopathy 7 | OMIM ID:613690 | OMIM ID:191044" +BMGC_DS11932,BMG_DS040504,OMIM ID:191000 | UMLS ID:C1860773 | humerus trochlea aplasia | MONDO:0008611 +BMGC_DS11933,BMG_DS040505,OMIM ID:190800 | Tristichiasis | MONDO:0008609 | UMLS ID:C1860785 +BMGC_DS11934,BMG_DS040506,UMLS ID:C1860788 | MeSH ID:C566024 | Transient Myeloproliferative Disorder of Down Syndrome +BMGC_DS11935,BMG_DS040507,MONDO:0008607 | Triphalangeal thumbs brachyectrodactyly | OMIM ID:190680 | MeSH ID:C536564 | triphalangeal thumbs-brachyectrodactyly syndrome | UMLS ID:C1860804 +BMGC_DS11936,BMG_DS040508,MeSH ID:C536619 | Triphalangeal thumb and dislocation of patella syndrome | MONDO:0008606 | Say-field-Coldwell syndrome | UMLS ID:C1860805 | SNOMEDCT ID:733456002 | Triphalangeal thumb and dislocation of patella syndrome (disorder) | OMIM ID:190650 | Say Field Coldwell syndrome +BMGC_DS11937,BMG_DS040509,MONDO:0008604 | UMLS ID:C1860807 | Triphalangeal Thumb with Double Phalanges | MeSH ID:C566028 | OMIM ID:190500 | triphalangeal thumb with double phalanges +BMGC_DS11938,BMG_DS040510,MeSH ID:C566029 | Triosephosphate Isomerase Deficiency | triosephosphate isomerase deficiency | OMIM ID:615512 | UMLS ID:C1860808 | DOID:0050884 | MONDO:0014221 +BMGC_DS11939,BMG_DS040511,"triglyceride storage disease, type 2 | OMIM ID:190430 | Triglyceride Storage Disease, Type II | UMLS ID:C1860820 | MeSH ID:C566030 | MONDO:0008602" +BMGC_DS11940,BMG_DS040512,"Triglyceride Storage Disease, Type I | OMIM ID:190420 | triglyceride storage disease, type 1 | MONDO:0008601 | MeSH ID:C566031 | UMLS ID:C1860821" +BMGC_DS11941,BMG_DS040514,"MONDO:0008597 | MeSH ID:C566033 | Trichorhinophalangeal Syndrome, Type III | OMIM ID:190351 | obsolete trichorhinophalangeal syndrome, type III | UMLS ID:C1860823" +BMGC_DS11942,BMG_DS040517,Familial multiple trichodiscomas | MONDO:0008594 | familial multiple discoid fibromas | UMLS ID:C1860850 | OMIM ID:190340 | MeSH ID:C536847 +BMGC_DS11943,BMG_DS040518,"MeSH ID:C536406 | Tremor, nystagmus, duodenal ulcer syndrome (disorder) | UMLS ID:C1860860 | Tremor, nystagmus, duodenal ulcer syndrome | tremor-nystagmus-duodenal ulcer syndrome | MONDO:0008591 | SNOMEDCT ID:782935003 | Neuhauser Daly Magnelli syndrome | OMIM ID:190310" +BMGC_DS11944,BMG_DS040519,"TREMOR, HEREDITARY ESSENTIAL, 1 | OMIM ID:190300 | MONDO:0008590 | tremor, hereditary essential, 1 | essential tremor 1 | DOID:0111428 | UMLS ID:C1860861" +BMGC_DS11945,BMG_DS040520,"MONDO:0008589 | Tremor of Intention, Ataxia, and Lipofuscinosis | OMIM ID:190200 | UMLS ID:C1860872 | MeSH ID:C566038 | tremor of intention, ataxia, and lipofuscinosis" +BMGC_DS11946,BMG_DS040521,"OMIM ID:614331 | MONDO:0013695 | colorectal cancer, hereditary nonpolyposis, type 6 | UMLS ID:C1860896" +BMGC_DS11947,BMG_DS040522,OMIM ID:190100 | hereditary geniospasm | MONDO:0008588 | UMLS ID:C1860972 +BMGC_DS11948,BMG_DS040523,OMIM ID:609942 | NOONAN SYNDROME 3 | MONDO:0012371 | Noonan syndrome 3 | UMLS ID:C1860991 | OMIM ID:190070 +BMGC_DS11949,BMG_DS040524,UMLS ID:C1861028 | MeSH ID:C531835 | Esophageal atresia with or without tracheoesophageal fistula +BMGC_DS11950,BMG_DS040526,"UMLS ID:C1861058 | OMIM ID:189230 | MONDO:0008580 | toes, space between first and second" +BMGC_DS11951,BMG_DS040527,"toes, relative length of first and second | UMLS ID:C1861059 | MONDO:0008579 | OMIM ID:189200" +BMGC_DS11952,BMG_DS040528,"MONDO:0008578 | toe, rotated fifth | OMIM ID:189150 | UMLS ID:C1861060" +BMGC_DS11953,BMG_DS040529,"toe, misshapen | UMLS ID:C1861061 | MONDO:0008577 | OMIM ID:189100" +BMGC_DS11954,BMG_DS040530,"OMIM ID:189000 | MONDO:0008576 | toe, fifth, number of phalanges 1N | UMLS ID:C1861062" +BMGC_DS11955,BMG_DS040531,"tobacco addiction, susceptibility to | OMIM ID:188890 | UMLS ID:C1861063 | MONDO:0100460" +BMGC_DS11956,BMG_DS040532,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 | MONDO:0013412 | hypertrophic cardiomyopathy 9 | UMLS ID:C1861065 | DOID:0110315 | OMIM ID:613765 | OMIM ID:188840" +BMGC_DS11957,BMG_DS040533,"MeSH ID:C566045 | tibial torsion, bilateral medial | OMIM ID:188800 | UMLS ID:C1861097 | Tibial Torsion, Bilateral Medial | MONDO:0008573" +BMGC_DS11958,BMG_DS040534,"MeSH ID:C566046 | Tibia, Hypoplasia of, with Polydactyly | OMIM ID:188740 | MONDO:0008572 | tibia, hypoplasia or aplasia of, with polydactyly | UMLS ID:C1861098" +BMGC_DS11959,BMG_DS040535,Absence of tibia with polydactyly | DOID:0111564 | MeSH ID:C535564 | UMLS ID:C1861099 | hypoplastic or aplastic tibia with polydactyly +BMGC_DS11960,BMG_DS040536,thyroid hormone plasma membrane transport defect | OMIM ID:188560 | THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT | MONDO:0008568 | UMLS ID:C1861101 +BMGC_DS11961,BMG_DS040537,"TRH (thyrotropin-releasing hormone) resistance syndrome | MONDO:0032819 | OMIM ID:618573 | SNOMEDCT ID:725462002 | Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) | hypothyroidism, congenital, nongoitrous, 7 | Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency | Resistance to thyrotropin-releasing hormone syndrome | UMLS ID:C1861106" +BMGC_DS11962,BMG_DS040541,"Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay | MONDO:0008563 | MeSH ID:C566053 | thumb stiffness-brachydactyly-intellectual disability syndrome | OMIM ID:188201 | UMLS ID:C1861166" +BMGC_DS11963,BMG_DS040542,MeSH ID:C566054 | UMLS ID:C1861168 | Thumb Deformity And Alopecia | OMIM ID:188150 | thumb deformity-alopecia-pigmentation anomaly syndrome | MONDO:0008562 +BMGC_DS11964,BMG_DS040543,UMLS ID:C1861171 | thrombophilia due to activated protein C resistance | OMIM ID:188055 | Thrombophilia due to Activated Protein C Resistance | DOID:0111902 | MeSH ID:C566056 | MONDO:0008560 +BMGC_DS11965,BMG_DS040544,UMLS ID:C1861172 | MONDO:0005399 | MeSH ID:D054556 | venous thromboembolism | Venous Thromboembolism +BMGC_DS11966,BMG_DS040545,Thrombocytopenia 2 | MONDO:0008555 | MeSH ID:C536519 | OMIM ID:188000 | UMLS ID:C1861185 | thrombocytopenia 2 +BMGC_DS11967,BMG_DS040546,"OMIM ID:187900 | MONDO:0008553 | UMLS ID:C1861194 | Thrombasthenia-Thrombocytopenia, Hereditary | MeSH ID:C566060 | platelet-type bleeding disorder 17" +BMGC_DS11968,BMG_DS040547,"UMLS ID:C1861195 | Glanzmann Thrombasthenia, Autosomal Dominant | MeSH ID:C566061" +BMGC_DS11969,BMG_DS040549,Barnes syndrome | MeSH ID:C536517 | Thoracolaryngopelvic dysplasia syndrome | thoracolaryngopelvic dysplasia | OMIM ID:187760 | OMIM ID:187770 | Thoracolaryngopelvic dysplasia | SNOMEDCT ID:723556008 | MONDO:0008551 | UMLS ID:C1861197 | Thoracolaryngopelvic dysplasia syndrome (disorder) +BMGC_DS11970,BMG_DS040550,"thoracic dysostosis, isolated | MeSH ID:C566063 | OMIM ID:187750 | MONDO:0008549 | Thoracic Dysostosis, Isolated | UMLS ID:C1861204" +BMGC_DS11971,BMG_DS040552,"OMIM ID:187550 | MONDO:0008545 | UMLS ID:C1861232 | Thalassemia, Beta+, Silent Allele | thalassemia, beta+, silent allele | MeSH ID:C566065" +BMGC_DS11972,BMG_DS040553,UMLS ID:C1861233 | MONDO:0008544 | OMIM ID:187510 | tetramelic monodactyly +BMGC_DS11973,BMG_DS040554,MeSH ID:C536501 | Tetralogy of fallot and glaucoma | OMIM ID:187501 | UMLS ID:C1861234 | MONDO:0008543 | tetralogy of fallot and glaucoma +BMGC_DS11974,BMG_DS040555,UMLS ID:C1861235 | MeSH ID:C566067 | Forebrain Defects +BMGC_DS11975,BMG_DS040556,UMLS ID:C1861237 | extensor tendons of finger anomalies | MONDO:0008540 | OMIM ID:187390 +BMGC_DS11976,BMG_DS040557,"UMLS ID:C1861238 | MONDO:0016675 | OMIM ID:187370 | ARTHROGRYPOSIS, DISTAL, TYPE 10 | distal arthrogryposis type 10" +BMGC_DS11977,BMG_DS040559,"teeth, odd shapes of | Teeth, Odd Shapes Of | UMLS ID:C1861274 | MeSH ID:C566076 | OMIM ID:187000 | MONDO:0008530" +BMGC_DS11978,BMG_DS040565,MONDO:0008526 | UMLS ID:C1861296 | OMIM ID:186750 | talonavicular coalition +BMGC_DS11979,BMG_DS040566,MeSH ID:C566083 | UMLS ID:C1861297 | Immunodeficiency due to Defect in CD3-Gamma +BMGC_DS11980,BMG_DS040568,"syringomas, multiple | MONDO:0008524 | OMIM ID:186600 | UMLS ID:C1861302" +BMGC_DS11981,BMG_DS040569,"SNOMEDCT ID:699861000 | Arthrocutaneouveal granulamotosis | Granulomatous inflammatory arthritis, dermatitis and uveitis, familial | Familial granulomatosis, Blau type | Pediatric granulomatous arthritis | Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) | Familial juvenile systemic granulomatosis | Paediatric granulomatous arthritis | Familial granulomatous inflammatory arthritis, dermatitis and uveitis | UMLS ID:C1861303" +BMGC_DS11982,BMG_DS040570,"OMIM ID:186575 | Synovial Chondromatosis, Familial, with Dwarfism | MeSH ID:C566087 | synovial chondromatosis, familial, with dwarfism | UMLS ID:C1861304 | MONDO:0008522" +BMGC_DS11983,BMG_DS040571,UMLS ID:C1861305 | OMIM ID:602991 | OMIM ID:186570 | MONDO:0008521 | DOID:0050789 | tarsal-carpal coalition syndrome | TARSAL-CARPAL COALITION SYNDROME +BMGC_DS11984,BMG_DS040573,"UMLS ID:C1861313 | OMIM ID:186550 | MONDO:0008520 | Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly | brachydactyly-elbow wrist dysplasia syndrome | MeSH ID:C566090" +BMGC_DS11985,BMG_DS040575,UMLS ID:C1861347 | MONDO:0008517 | OMIM ID:186350 | syndactyly-polydactyly-ear lobe syndrome | Syndactyly-Polydactyly-Earlobe Syndrome | MeSH ID:C566091 +BMGC_DS11986,BMG_DS040576,syndactyly type 5 | MONDO:0008516 | OMIM ID:186300 | DOID:0111819 | UMLS ID:C1861348 +BMGC_DS11987,BMG_DS040577,"UMLS ID:C1861355 | syndactyly type 4 | Syndactyly, Type IV | MeSH ID:C566092 | DOID:0111818 | MONDO:0008515 | OMIM ID:186200" +BMGC_DS11988,BMG_DS040578,"SYNDACTYLY, TYPE III | OMIM ID:121014 | syndactyly type 3 | MONDO:0008514 | DOID:0111817 | UMLS ID:C1861366 | OMIM ID:186100" +BMGC_DS11989,BMG_DS040580,"MeSH ID:C566096 | MONDO:0008512 | Syndactyly, Type I | OMIM ID:185900 | UMLS ID:C1861380 | syndactyly type 1" +BMGC_DS11990,BMG_DS040581,MONDO:0008511 | UMLS ID:C1861385 | proximal symphalangism +BMGC_DS11991,BMG_DS040583,OMIM ID:185700 | MONDO:0008509 | UMLS ID:C1861401 | distal symphalangism +BMGC_DS11992,BMG_DS040584,"OMIM ID:185650 | MONDO:0008508 | UMLS ID:C1861404 | symphalangism, C. S. Lewis type | Symphalangism, C. S. Lewis Type | MeSH ID:C566100" +BMGC_DS11993,BMG_DS040586,OMIM ID:185600 | UMLS ID:C1861418 | MeSH ID:C566101 | symphalangism of toes | Symphalangism of Toes | MONDO:0008506 +BMGC_DS11994,BMG_DS040588,"MONDO:0008502 | MeSH ID:C566102 | OMIM ID:185460 | Sulfhemoglobinemia, Congenital | sulfhemoglobinemia, congenital | UMLS ID:C1861437" +BMGC_DS11995,BMG_DS040590,"UMLS ID:C1861447 | Striae Distensae, Familial | MeSH ID:C566104 | OMIM ID:185200 | striae distensae, familial | MONDO:0008500" +BMGC_DS11996,BMG_DS040592,"MONDO:0008498 | UMLS ID:C1861449 | OMIM ID:185100 | strabismus, susceptibility to" +BMGC_DS11997,BMG_DS040594,MONDO:0008497 | Stormorken syndrome | Stormorken Syndrome | OMIM ID:185070 | MeSH ID:C566108 | DOID:0060354 | UMLS ID:C1861451 +BMGC_DS11998,BMG_DS040596,cryohydrocytosis | MONDO:0008494 | MeSH ID:C535827 | UMLS ID:C1861453 | Pseudohyperkalemia Cardiff | OMIM ID:185020 +BMGC_DS11999,BMG_DS040598,UMLS ID:C1861455 | overhydrated hereditary stomatocytosis | OMIM ID:185000 | MONDO:0008493 +BMGC_DS12000,BMG_DS040599,stiff skin syndrome | UMLS ID:C1861456 | OMIM ID:184900 | DOID:0111561 | MONDO:0008492 | MeSH ID:C566112 | Stiff Skin Syndrome +BMGC_DS12001,BMG_DS040600,OMIM ID:184850 | progressive encephalomyelitis with rigidity and myoclonus | UMLS ID:C1861457 | PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY | MONDO:0018581 +BMGC_DS12002,BMG_DS040601,"Stickler syndrome, type 3 | UMLS ID:C1861481 | MeSH ID:C537494" +BMGC_DS12003,BMG_DS040603,OMIM ID:171050 | OMIM ID:120080 | COLCHICINE RESISTANCE | UMLS ID:C1861502 +BMGC_DS12004,BMG_DS040604,UMLS ID:C1861512 | MONDO:0007346 | OMIM ID:120040 | MeSH ID:C536432 | cochleosaccular degeneration-cataract syndrome | Cochleosaccular degeneration of the inner ear and progressive cataracts +BMGC_DS12005,BMG_DS040605,"MeSH ID:C566117 | cluster headache, familial | Cluster Headache, Familial | MONDO:0007344 | UMLS ID:C1861513 | OMIM ID:119915" +BMGC_DS12006,BMG_DS040606,Cleidorhizomelic syndrome (disorder) | OMIM ID:119650 | Wallis Zieff Goldblatt syndrome | Cleidorhizomelic syndrome | MeSH ID:C536428 | Rhizomelic shortness with clavicular defect | MONDO:0007341 | UMLS ID:C1861515 | cleidorhizomelic syndrome | SNOMEDCT ID:719471002 +BMGC_DS12007,BMG_DS040608,DOID:0080344 | Blepharo-cheilo-dontic syndrome | blepharocheilodontic syndrome | MeSH ID:C536188 | UMLS ID:C1861536 | MONDO:0007339 +BMGC_DS12008,BMG_DS040609,OMIM ID:119530 | OROFACIAL CLEFT 1 | MONDO:0007335 | UMLS ID:C1861537 | orofacial cleft 1 +BMGC_DS12009,BMG_DS040610,MONDO:0007332 | UMLS ID:C1861553 | split-hand/foot malformation with long bone deficiency 1 | MeSH ID:C536425 | Split-Hand-Foot Malformation With Long Bone Deficiency 1 | OMIM ID:119100 +BMGC_DS12010,BMG_DS040611,"cirrhosis, familial | OMIM ID:215600 | UMLS ID:C1861556 | MONDO:0007329 | MeSH ID:C566123 | Cirrhosis, Familial" +BMGC_DS12011,BMG_DS040614,"OMIM ID:118830 | Chylomicronemia, Familial, due to Circulating Inhibitor of Lipoprotein Lipase | MONDO:0007327 | UMLS ID:C1861560 | chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase | MeSH ID:C566126" +BMGC_DS12012,BMG_DS040615,"MeSH ID:C566127 | Choreoathetosis, Familial Inverted | choreoathetosis, familial inverted | OMIM ID:118750 | UMLS ID:C1861569 | MONDO:0007325" +BMGC_DS12013,BMG_DS040622,OMIM ID:214370 | UMLS ID:C1861669 | MeSH ID:C538078 | MONDO:0008960 | Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome | Charcot-Marie-Tooth disease and deafness +BMGC_DS12014,BMG_DS040624,"UMLS ID:C1861678 | OMIM ID:118210 | MONDO:0007308 | Charcot-Marie-Tooth disease type 2A1 | Charcot-Marie-Tooth Disease, Axonal, Type 2a1 | MeSH ID:C566138" +BMGC_DS12015,BMG_DS040625,"Klippel-Feil syndrome 1, autosomal dominant | MONDO:0007306 | OMIM ID:118100 | UMLS ID:C1861689" +BMGC_DS12016,BMG_DS040626,OMIM ID:118005 | Cervical Vertebral Dysplasia | UMLS ID:C1861693 | cervical vertebral dysplasia | MeSH ID:C566140 | MONDO:0007305 +BMGC_DS12017,BMG_DS040627,cervical vertebral Bridge | OMIM ID:118000 | UMLS ID:C1861694 | MONDO:0007304 +BMGC_DS12018,BMG_DS040628,UMLS ID:C1861695 | OMIM ID:117850 | MONDO:0007302 | cervical hypertrichosis with underlying kyphoscoliosis | Cervical Hypertrichosis with Underlying Kyphoscoliosis | MeSH ID:C566142 +BMGC_DS12019,BMG_DS040629,"EAR WAX, WET/DRY | OMIM ID:117800 | UMLS ID:C1861696 | OMIM ID:607040" +BMGC_DS12020,BMG_DS040631,MONDO:0007298 | MeSH ID:C537206 | Spinocerebellar Ataxia 29 | OMIM ID:117360 | spinocerebellar ataxia type 29 | UMLS ID:C1861732 +BMGC_DS12021,BMG_DS040632,"Dementia, familial Danish | UMLS ID:C1861735 | ADan amyloidosis | MeSH ID:C538209 | MONDO:0007297 | OMIM ID:117300" +BMGC_DS12022,BMG_DS040633,UMLS ID:C1861736 | OMIM ID:117210 | MONDO:0007296 | spinocerebellar ataxia type 31 | Spinocerebellar Ataxia 31 | MeSH ID:C566146 +BMGC_DS12023,BMG_DS040637,"UMLS ID:C1861753 | moderate multiminicore disease with hand involvement | Multiminicore Disease, Moderate, with Hand Involvement | MONDO:0015793 | MeSH ID:C566147" +BMGC_DS12024,BMG_DS040638,MeSH ID:D000074742 | OMIM ID:116870 | MONDO:0004914 | Median Arcuate Ligament Syndrome | UMLS ID:C1861783 | DOID:9892 | celiac artery stenosis from compression by median arcuate ligament of diaphragm | median arcuate ligament syndrome +BMGC_DS12025,BMG_DS040639,MeSH ID:C566152 | UMLS ID:C1861785 | Cavernous Malformations of CNS and Retina +BMGC_DS12026,BMG_DS040640,Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations | UMLS ID:C1861786 | MeSH ID:C566153 +BMGC_DS12027,BMG_DS040642,"OMIM ID:116800 | CATARACT, MARNER TYPE | UMLS ID:C1861821" +BMGC_DS12028,BMG_DS040643,"MONDO:0007288 | UMLS ID:C1861825 | cataract 6 multiple types | CATARACT, POSTERIOR POLAR, 1 | OMIM ID:116600" +BMGC_DS12029,BMG_DS040645,"UMLS ID:C1861827 | Cataract, Nuclear Diffuse Nonprogressive | MeSH ID:C566157" +BMGC_DS12030,BMG_DS040646,"Cataract, Zonular Pulverulent 1 | OMIM ID:116200 | UMLS ID:C1861828 | cataract 1 multiple types | MeSH ID:C566158 | MONDO:0007285" +BMGC_DS12031,BMG_DS040647,MeSH ID:C538287 | Cataract microcornea syndrome | cataract - microcornea syndrome | MONDO:0015300 | UMLS ID:C1861829 +BMGC_DS12032,BMG_DS040650,"MONDO:0007280 | UMLS ID:C1861833 | OMIM ID:115665 | cataract 8 multiple types | CATARACT, CONGENITAL, VOLKMANN TYPE" +BMGC_DS12033,BMG_DS040652,MONDO:0007274 | UMLS ID:C1861847 | OMIM ID:115400 | carpal displacement +BMGC_DS12034,BMG_DS040653,MONDO:0007273 | PARAGANGLIOMAS 4 | paragangliomas 4 | OMIM ID:115310 | UMLS ID:C1861848 +BMGC_DS12035,BMG_DS040655,"MeSH ID:C566168 | cardiomyopathy, familial restrictive, 1 | OMIM ID:115210 | MONDO:0007270 | UMLS ID:C1861861 | Cardiomyopathy, Familial Restrictive, 1" +BMGC_DS12036,BMG_DS040656,OMIM ID:115197 | hypertrophic cardiomyopathy 4 | MONDO:0007268 | UMLS ID:C1861862 +BMGC_DS12037,BMG_DS040657,"MeSH ID:C566170 | UMLS ID:C1861863 | Cardiomyopathy, Familial Hypertrophic, 3 | MONDO:0007267 | OMIM ID:115196 | hypertrophic cardiomyopathy 3" +BMGC_DS12038,BMG_DS040658,"OMIM ID:115195 | Cardiomyopathy, Familial Hypertrophic, 2 | MeSH ID:C566171 | UMLS ID:C1861864 | hypertrophic cardiomyopathy 2 | MONDO:0007266" +BMGC_DS12039,BMG_DS040659,MeSH ID:C566172 | Familial Sudden Death | UMLS ID:C1861884 +BMGC_DS12040,BMG_DS040660,UMLS ID:C1861889 | Monocyte Esterase Deficiency | MeSH ID:C566173 +BMGC_DS12041,BMG_DS040662,MeSH ID:C566175 | OMIM ID:114700 | Carabelli anomaly of maxillary molar teeth | UMLS ID:C1861897 | Carabelli Anomaly of Maxillary Molar Teeth | MONDO:0007261 +BMGC_DS12042,BMG_DS040663,MeSH ID:C566176 | Car Factor Deficiency | Car factor deficiency | UMLS ID:C1861898 | MONDO:0007260 | OMIM ID:114650 +BMGC_DS12043,BMG_DS040664,"MONDO:0007258 | OMIM ID:114600 | CANINE TEETH, ABSENCE OF UPPER PERMANENT | UMLS ID:C1861899 | canine teeth, absence of upper permanent" +BMGC_DS12044,BMG_DS040665,"MONDO:0007253 | OMIM ID:114450 | cancer, familial, with in vitro Radioresistance | UMLS ID:C1861915" +BMGC_DS12045,BMG_DS040666,OMIM ID:114290 | DOID:0050463 | OMIM ID:608160 | MONDO:0007251 | campomelic dysplasia | UMLS ID:C1861922 | CAMPOMELIC DYSPLASIA +BMGC_DS12046,BMG_DS040667,DOID:0050463 | MeSH ID:D055036 | Campomelic Dysplasia | Acampomelic Campomelic Dysplasia | campomelic dysplasia | UMLS ID:C1861923 +BMGC_DS12047,BMG_DS040668,camptobrachydactyly | OMIM ID:114150 | UMLS ID:C1861963 | MONDO:0007249 +BMGC_DS12048,BMG_DS040669,"Callosities, Hereditary Painful | hereditary painful callosities | UMLS ID:C1861964 | MeSH ID:C566180 | MONDO:0007248 | OMIM ID:114140" +BMGC_DS12049,BMG_DS040670,"basal ganglia calcification, idiopathic, childhood-onset | MeSH ID:C536276 | UMLS ID:C1861967 | Idiopathic basal ganglia calcification, childhood onset | MONDO:0007247 | OMIM ID:114100" +BMGC_DS12050,BMG_DS040671,"MeSH ID:C566182 | UMLS ID:C1861974 | calcific aortic disease with immunologic abnormalities, familial | OMIM ID:114065 | Calcific Aortic Disease with Immunologic Abnormalities, Familial | MONDO:0007246" +BMGC_DS12051,BMG_DS040672,"MONDO:0007245 | Cafe au lait spots, multiple | UMLS ID:C1861975 | OMIM ID:114030 | MeSH ID:C537421 | cafe au lait spots, multiple" +BMGC_DS12052,BMG_DS040675,"UMLS ID:C1861983 | MeSH ID:C566185 | Heart Block, Nonprogressive" +BMGC_DS12053,BMG_DS040676,"UMLS ID:C1861984 | Cardiac Conduction Defect, Nonprogressive | MeSH ID:C566186" +BMGC_DS12054,BMG_DS040681,UMLS ID:C1862082 | MeSH ID:C536242 | Brachymorphism-onychodysplasia-dysphalangism syndrome | MONDO:0007230 | OMIM ID:113477 +BMGC_DS12055,BMG_DS040685,OMIM ID:113400 | brachydactyly-nystagmus-cerebellar ataxia syndrome | MeSH ID:C566192 | MONDO:0007226 | UMLS ID:C1862099 | Brachydactyly-Nystagmus-Cerebellar Ataxia +BMGC_DS12056,BMG_DS040686,fibular aplasia-ectrodactyly syndrome | OMIM ID:113310 | MeSH ID:C537930 | MONDO:0007225 | Fibular aplasia ectrodactyly | UMLS ID:C1862100 +BMGC_DS12057,BMG_DS040687,"UMLS ID:C1862101 | OMIM ID:113301 | brachydactyly, type E, with atrial septal defect, type 2 | MeSH ID:C566193 | Brachydactyly, Type E, with Atrial Septal Defect, Type II | MONDO:0007224" +BMGC_DS12058,BMG_DS040688,OMIM ID:113300 | brachydactyly type E1 | UMLS ID:C1862102 | MONDO:0007223 +BMGC_DS12059,BMG_DS040689,OMIM ID:113100 | brachydactyly type C | MONDO:0007221 | UMLS ID:C1862103 | DOID:0110970 +BMGC_DS12060,BMG_DS040690,UMLS ID:C1862112 | brachydactyly type B1 | MONDO:0007220 | OMIM ID:113000 +BMGC_DS12061,BMG_DS040691,Brachydactyly type A6 (disorder) | SNOMEDCT ID:715722003 | Brachydactyly type A6 | OMIM ID:112910 | MONDO:0007219 | Osebold-Remondini syndrome | MeSH ID:C537092 | UMLS ID:C1862130 | Osebold Remondini syndrome | DOID:0110968 | brachydactyly type A6 +BMGC_DS12062,BMG_DS040693,UMLS ID:C1862139 | MONDO:0007218 | brachydactyly type A4 | OMIM ID:112800 +BMGC_DS12063,BMG_DS040694,brachydactyly type A3 | MONDO:0007217 | OMIM ID:112700 | UMLS ID:C1862140 +BMGC_DS12064,BMG_DS040695,Brachydactyly type A1 | MeSH ID:C537088 | UMLS ID:C1862151 | MONDO:0007215 | Brachydactyly Farabee type | DOID:0110964 | OMIM ID:MTHU019237 | OMIM ID:112500 | brachydactyly type A1 | SNOMEDCT ID:715720006 | Brachydactyly type A1 (disorder) +BMGC_DS12065,BMG_DS040696,Brachydactyly preaxial with hallux varus and thumb abduction | MONDO:0007214 | brachydactyly-preaxial hallux varus syndrome | MeSH ID:C537087 | OMIM ID:112450 | UMLS ID:C1862162 +BMGC_DS12066,BMG_DS040699,UMLS ID:C1862170 | brachydactyly-arterial hypertension syndrome | MeSH ID:C537095 | Brachydactyly with hypertension | DOID:0111247 | MONDO:0007211 | OMIM ID:112410 | hypertension and brachydactyly syndrome +BMGC_DS12067,BMG_DS040700,"OMIM ID:112370 | UMLS ID:C1862171 | Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay | MONDO:0007210 | MeSH ID:C566206 | Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay" +BMGC_DS12068,BMG_DS040701,MeSH ID:C537082 | Weismann Netter syndrome (disorder) | UMLS ID:C1862172 | Weismann-Netter syndrome | Anterior bowing of legs with dwarfism | MONDO:0007209 | SNOMEDCT ID:715532007 | OMIM ID:112350 | Weismann Netter syndrome +BMGC_DS12069,BMG_DS040702,"OMIM ID:112270 | UMLS ID:C1862176 | bone pain, periodic | MONDO:0007206" +BMGC_DS12070,BMG_DS040703,MONDO:0007205 | MeSH ID:C536169 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | diaphyseal medullary stenosis-bone malignancy syndrome | diaphyseal medullary stenosis with malignant fibrous histiocytoma | OMIM ID:112250 | DOID:0080664 | UMLS ID:C1862177 +BMGC_DS12071,BMG_DS040704,"Cole-Carpenter syndrome | Cole Carpenter syndrome | DOID:0060438 | Bone fragility, craniosynostosis, proptosis, hydrocephalus syndrome | MeSH ID:C535963 | Cole-Carpenter dysplasia | UMLS ID:C1862178 | Cole-Carpenter dysplasia (disorder) | SNOMEDCT ID:389199001 | MONDO:0016085" +BMGC_DS12072,BMG_DS040708,UMLS ID:C1862259 | blepharoptosis-myopia-ectopia lentis syndrome | MeSH ID:C536236 | OMIM ID:110150 | Blepharoptosis myopia ectopia lentis | MONDO:0007202 +BMGC_DS12073,BMG_DS040709,Bpes With Ovarian Failure | MeSH ID:C566222 | UMLS ID:C1862262 +BMGC_DS12074,BMG_DS040710,MeSH ID:C566222 | UMLS ID:C1862263 | Bpes Without Ovarian Failure +BMGC_DS12075,BMG_DS040711,UMLS ID:C1862264 | MeSH ID:C566222 | Bpes With Duane Retraction Syndrome +BMGC_DS12076,BMG_DS040712,"OMIM ID:110000 | blepharochalasis, superior | MONDO:0007199 | MeSH ID:C566223 | Blepharochalasis, Superior | UMLS ID:C1862275" +BMGC_DS12077,BMG_DS040714,"UMLS ID:C1862299 | Basilar Impression, Primary | MeSH ID:C566226 | OMIM ID:109500 | MONDO:0007188 | primary basilar invagination" +BMGC_DS12078,BMG_DS040718,"MeSH ID:C566231 | MONDO:0008165 | OMIM ID:166900 | southeast Asian ovalocytosis | UMLS ID:C1862322 | Ovalocytosis, Malaysian-Melanesian-Filipino Type" +BMGC_DS12079,BMG_DS040721,MONDO:0007181 | UMLS ID:C1862372 | Axial osteomalacia | MeSH ID:C537791 | OMIM ID:109130 | DOID:0080039 | axial osteomalacia +BMGC_DS12080,BMG_DS040722,"Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities | Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities | OMIM ID:109120 | UMLS ID:C1862373 | MONDO:0007180 | MeSH ID:C566234" +BMGC_DS12081,BMG_DS040723,MeSH ID:C566235 | MONDO:0007178 | Aurocephalosyndactyly | OMIM ID:109050 | aurocephalosyndactyly | UMLS ID:C1862380 +BMGC_DS12082,BMG_DS040724,UMLS ID:C1862381 | auriculoosteodysplasia | MONDO:0007177 | OMIM ID:109000 | MeSH ID:C538271 | Auriculoosteodysplasia +BMGC_DS12083,BMG_DS040725,OMIM ID:108985 | SVEINSSON CHORIORETINAL ATROPHY | MONDO:0007176 | OMIM ID:189967 | UMLS ID:C1862382 | helicoid peripapillary chorioretinal degeneration | Sveinsson chorioretinal atrophy | DOID:0111228 +BMGC_DS12084,BMG_DS040726,Lown-Ganong-Levine syndrome | OMIM ID:108950 | UMLS ID:C1862387 | MONDO:0007174 | Atrial Tachyarrhythmia with Short PR Interval | MeSH ID:C566237 +BMGC_DS12085,BMG_DS040727,atrial septal defect 1 | OMIM ID:108800 | UMLS ID:C1862389 | MONDO:0007172 +BMGC_DS12086,BMG_DS040728,"Atrial Fibrillation, Familial, 4 | atrial fibrillation, familial, 4 | UMLS ID:C1862394 | OMIM ID:611493 | MeSH ID:C566244 | MONDO:0012677" +BMGC_DS12087,BMG_DS040729,MONDO:0007166 | MeSH ID:C566246 | UMLS ID:C1862440 | OMIM ID:108700 | ataxia with fasciculations | Ataxia with Fasciculations +BMGC_DS12088,BMG_DS040730,"MeSH ID:C566247 | Ataxia, Spastic, with Congenital Miosis | OMIM ID:108650 | spastic ataxia 7 | MONDO:0007165 | UMLS ID:C1862441" +BMGC_DS12089,BMG_DS040732,spermatogenic failure 2 | MONDO:0007161 | OMIM ID:108420 | UMLS ID:C1862459 +BMGC_DS12090,BMG_DS040735,UMLS ID:C1862471 | MONDO:0007159 | DOID:0111609 | OMIM ID:108200 | distal arthrogryposis type 6 | Arthrogryposis-like hand anomaly and sensorineural deafness | arthrogryposis-like hand anomaly-sensorineural deafness syndrome | MeSH ID:C535386 +BMGC_DS12091,BMG_DS040736,SNOMEDCT ID:715217004 | MONDO:0007158 | DOID:0111608 | OMIM ID:108145 | UMLS ID:C1862472 | Oculomelic amyoplasia | Distal arthrogryposis type 5 | MeSH ID:C537737 | Distal arthrogryposis with ophthalmoplegia | Arthrogryposis with oculomotor limitation and electroretinal anomaly | Distal arthrogryposis type 5 (disorder) | distal arthrogryposis type 5 | arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +BMGC_DS12092,BMG_DS040738,"arrhythmogenic right ventricular dysplasia 1 | MONDO:0007152 | OMIM ID:107970 | UMLS ID:C1862511 | MeSH ID:C566254 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 1" +BMGC_DS12093,BMG_DS040740,"MONDO:0007151 | arms, malformation of | UMLS ID:C1862534 | OMIM ID:107900" +BMGC_DS12094,BMG_DS040748,"UMLS ID:C1862591 | MONDO:0800425 | coronary artery disease, severe, susceptibility to" +BMGC_DS12095,BMG_DS040749,Familial hypobetalipoproteinaemia | SNOMEDCT ID:60193003 | UMLS ID:C1862596 | Familial hypobetalipoproteinemia (disorder) | Familial hypobetalipoproteinemia +BMGC_DS12096,BMG_DS040750,"UMLS ID:C1862632 | OMIM ID:107700 | MONDO:0007148 | appendicitis, proneness to" +BMGC_DS12097,BMG_DS040751,"UMLS ID:C1862681 | Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma | MeSH ID:C566271 | OMIM ID:107550 | MONDO:0007144 | aortic arch interruption, facial palsy, and retinal coloboma" +BMGC_DS12098,BMG_DS040752,OMIM ID:107500 | UMLS ID:C1862682 | aortic arch anomaly-facial dysmorphism-intellectual disability syndrome | Aortic arch anomaly with peculiar facies and mental retardation | MONDO:0007143 | MeSH ID:C537785 +BMGC_DS12099,BMG_DS040753,Townes-Brocks-Branchiootorenal-Like Syndrome | MeSH ID:C566272 | UMLS ID:C1862683 +BMGC_DS12100,BMG_DS040754,UMLS ID:C1862839 | anterior segment dysgenesis | MONDO:0019503 +BMGC_DS12101,BMG_DS040756,UMLS ID:C1862841 | MeSH ID:C537766 | OMIM ID:106995 | Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges | Cooks syndrome | MONDO:0007134 +BMGC_DS12102,BMG_DS040758,anonychia-ectrodactyly | OMIM ID:106900 | MONDO:0007132 | Anonychia-Ectrodactyly | MeSH ID:C566277 | UMLS ID:C1862843 +BMGC_DS12103,BMG_DS040759,UMLS ID:C1862844 | MeSH ID:C566278 | MONDO:0007131 | anonychia with flexural pigmentation | Anonychia with Flexural Pigmentation | OMIM ID:106750 +BMGC_DS12104,BMG_DS040760,"OMIM ID:106300 | MONDO:0007126 | UMLS ID:C1862852 | spondyloarthropathy, susceptibility to, 1" +BMGC_DS12105,BMG_DS040761,ankyloblepharon filiforme adnatum-cleft palate syndrome | MONDO:0007123 | OMIM ID:106250 | UMLS ID:C1862866 +BMGC_DS12106,BMG_DS040762,"UMLS ID:C1862867 | OMIM ID:106230 | Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract | MeSH ID:C566280 | MONDO:0007121 | aniridia, microcornea, and spontaneously Reabsorbed cataract" +BMGC_DS12107,BMG_DS040763,MeSH ID:C566281 | MONDO:0007120 | OMIM ID:106220 | Aniridia and Absent Patella | aniridia-absent patella syndrome | UMLS ID:C1862868 +BMGC_DS12108,BMG_DS040764,UMLS ID:C1862892 | Hereditary Angioedema Type II | MeSH ID:D056829 | Hereditary Angioedema Types I and II +BMGC_DS12109,BMG_DS040767,"MONDO:0007111 | Aneurysm, Intracranial Berry, 1 | MeSH ID:C566284 | UMLS ID:C1862932 | aneurysm, intracranial berry type 1 | OMIM ID:105800" +BMGC_DS12110,BMG_DS040771,AMYOTROPHIC LATERAL SCLEROSIS 1 | amyotrophic lateral sclerosis type 1 | MONDO:0007103 | OMIM ID:147450 | OMIM ID:105400 | UMLS ID:C1862939 +BMGC_DS12111,BMG_DS040773,"MeSH ID:C531617 | UMLS ID:C1862941 | MONDO:0005145 | Amyotrophic Lateral Sclerosis, Sporadic | sporadic amyotrophic lateral sclerosis" +BMGC_DS12112,BMG_DS040774,Amyotrophic Dystonic Paraplegia | MONDO:0007102 | MeSH ID:C566292 | UMLS ID:C1862956 | amyotrophic dystonic paraplegia | OMIM ID:105300 +BMGC_DS12113,BMG_DS040776,"Amelogenesis Imperfecta, Type IV | UMLS ID:C1863012 | OMIM ID:104510 | MeSH ID:C566293 | MONDO:0007093 | hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism" +BMGC_DS12114,BMG_DS040777,OMIM ID:104400 | amelia and terminal transverse hemimelia | MONDO:0007091 | UMLS ID:C1863014 | MeSH ID:C566294 | Amelia and Terminal Transverse Hemimelia +BMGC_DS12115,BMG_DS040778,"MeSH ID:C566295 | MONDO:0007090 | OMIM ID:104350 | amastia, bilateral, with ureteral triplication and dysmorphism | UMLS ID:C1863015 | Amastia, Bilateral, With Ureteral Triplication And Dysmorphism" +BMGC_DS12116,BMG_DS040779,ALZHEIMER DISEASE 2 | UMLS ID:C1863051 | OMIM ID:104310 | MONDO:0007089 | Alzheimer disease 2 +BMGC_DS12117,BMG_DS040780,"UMLS ID:C1863052 | OMIM ID:104300 | Alzheimer's disease 1 | Alzheimer disease type 1 | MONDO:0007088 | OMIM ID:104760 | ALZHEIMER DISEASE, FAMILIAL, 1 | DOID:0080348" +BMGC_DS12118,BMG_DS040782,obsolete congenital deficiency in alpha-fetoprotein | MONDO:0014424 | OMIM ID:615969 | UMLS ID:C1863081 | alpha-Fetoprotein Deficiency | MeSH ID:C566300 +BMGC_DS12119,BMG_DS040784,"UMLS ID:C1863092 | MeSH ID:C566301 | OMIM ID:104110 | Alopecia, Familial Focal | MONDO:0007084 | familial focal alopecia" +BMGC_DS12120,BMG_DS040785,alopecia congenita keratosis palmoplantaris | MONDO:0022417 | DOID:0111244 | UMLS ID:C1863093 | MeSH ID:C537050 | palmoplantar keratoderma and congenital alopecia 1 | Alopecia congenita keratosis palmoplantaris +BMGC_DS12121,BMG_DS040786,alopecia areata 1 | ALOPECIA AREATA 1 | OMIM ID:104000 | UMLS ID:C1863094 | MONDO:0007082 +BMGC_DS12122,BMG_DS040787,UMLS ID:C1863119 | Dysalbuminemic Hyperthyroxinemia | MeSH ID:C566305 +BMGC_DS12123,BMG_DS040789,OMIM ID:103300 | Hypoglossia-Hypodactylia | MONDO:0007073 | MeSH ID:C566308 | Hypoglossia-hypodactyly syndrome | UMLS ID:C1863203 +BMGC_DS12124,BMG_DS040790,MONDO:0007072 | UMLS ID:C1863204 | DOID:0050601 | OMIM ID:103285 | OMIM ID:603273 | ADULT SYNDROME | ADULT syndrome +BMGC_DS12125,BMG_DS040791,"MONDO:0007067 | pyruvate kinase hyperactivity | UMLS ID:C1863224 | Adenosine Triphosphate, Elevated, Of Erythrocytes | OMIM ID:102900 | MeSH ID:C566310" +BMGC_DS12126,BMG_DS040793,"OMIM ID:301083 | MeSH ID:C566314 | UMLS ID:C1863235 | OMIM ID:102730 | MONDO:0020458 | hemolytic anemia due to erythrocyte adenosine deaminase overproduction | Adenosine Deaminase, Elevated, Hemolytic Anemia Due To" +BMGC_DS12127,BMG_DS040794,"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | UMLS ID:C1863236 | OMIM ID:102700 | MONDO:0007064" +BMGC_DS12128,BMG_DS040795,Partial adenosine deaminase deficiency | UMLS ID:C1863239 | MeSH ID:C531816 +BMGC_DS12129,BMG_DS040796,"MONDO:0007058 | OMIM ID:102510 | MeSH ID:C566319 | Acropectorovertebral Dysplasia, F-Form | Acropectorovertebral dysplasia | UMLS ID:C1863307" +BMGC_DS12130,BMG_DS040797,"Acroleukopathy, Symmetric | MeSH ID:C566322 | UMLS ID:C1863342 | acroleukopathy, symmetric | OMIM ID:102000 | MONDO:0007049" +BMGC_DS12131,BMG_DS040798,"MONDO:0007046 | UMLS ID:C1863343 | MeSH ID:C566323 | OMIM ID:101840 | hereditary papulotranslucent acrokeratoderma | Acrokeratoderma, Hereditary Papulotranslucent | DOID:0060360" +BMGC_DS12132,BMG_DS040799,UMLS ID:C1863370 | Saethre-Chotzen Syndrome with Eyelid Anomalies | MeSH ID:C566325 +BMGC_DS12133,BMG_DS040800,MeSH ID:D000168 | UMLS ID:C1863389 | Acrocephalosyndactylia | Apert-Crouzon Disease +BMGC_DS12134,BMG_DS040802,UMLS ID:C1863416 | Achoo syndrome | MONDO:0007038 | OMIM ID:100820 | MeSH ID:C535300 | Autosomal dominant compelling helio ophthalmic outburst syndrome +BMGC_DS12135,BMG_DS040803,"OMIM ID:603813 | hypercholesterolemia, familial, 4 | MONDO:0011374 | UMLS ID:C1863512 | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE" +BMGC_DS12136,BMG_DS040807,UMLS ID:C1863534 | MONDO:0011370 | MeSH ID:C535521 | OMIM ID:603786 | Stargardt disease 4 +BMGC_DS12137,BMG_DS040808,"hypercholesterolemia, autosomal dominant, 3 | OMIM ID:607786 | MONDO:0011369 | UMLS ID:C1863551 | HYPERCHOLESTEROLEMIA, FAMILIAL, 3 | OMIM ID:603776" +BMGC_DS12138,BMG_DS040810,"MeSH ID:C536717 | Ohdo syndrome, SBBYS variant | DOID:0060290 | UMLS ID:C1863557 | OMIM ID:603736 | MONDO:0011365 | blepharophimosis - intellectual disability syndrome, SBBYS type | Young Simpson syndrome" +BMGC_DS12139,BMG_DS040811,"UMLS ID:C1863561 | MeSH ID:C566339 | MONDO:0011364 | OMIM ID:603720 | Deafness, Autosomal Recessive 16 | autosomal recessive nonsyndromic hearing loss 16" +BMGC_DS12140,BMG_DS040813,"OMIM ID:603689 | Hereditary Myopathy with Early Respiratory Failure | myopathy, myofibrillar, 9, with early respiratory failure | MONDO:0011362 | UMLS ID:C1863599 | MeSH ID:C566343 | OMIM ID:607569" +BMGC_DS12141,BMG_DS040814,prostate cancer/brain cancer susceptibility | UMLS ID:C1863600 | MONDO:0011361 | OMIM ID:603688 +BMGC_DS12142,BMG_DS040815,"UMLS ID:C1863613 | autosomal recessive nonsyndromic hearing loss 14 | OMIM ID:603678 | DEAFNESS, AUTOSOMAL RECESSIVE 14 | MONDO:0011360" +BMGC_DS12143,BMG_DS040816,OMIM ID:615951 | ACROMELIC FRONTONASAL DYSOSTOSIS | OMIM ID:603671 | acromelic frontonasal dysostosis | MONDO:0011359 | UMLS ID:C1863616 +BMGC_DS12144,BMG_DS040822,Cone-Rod Dystrophy 7 | cone-rod dystrophy 7 | MeSH ID:C566350 | UMLS ID:C1863634 | OMIM ID:603649 | DOID:0111012 | MONDO:0011355 +BMGC_DS12145,BMG_DS040826,"MONDO:0011351 | OMIM ID:603629 | UMLS ID:C1863655 | autosomal recessive nonsyndromic hearing loss 21 | MeSH ID:C566353 | Deafness, Autosomal Recessive 21" +BMGC_DS12146,BMG_DS040827,"UMLS ID:C1863659 | MONDO:0011350 | autosomal dominant nonsyndromic hearing loss 17 | OMIM ID:603622 | OMIM ID:160775 | DEAFNESS, AUTOSOMAL DOMINANT 17" +BMGC_DS12147,BMG_DS040829,OMIM ID:603595 | MeSH ID:C566357 | MONDO:0011347 | craniosynostosis with ectopia lentis | Craniosynostosis with Ectopia Lentis | UMLS ID:C1863678 +BMGC_DS12148,BMG_DS040830,"Xanthinuria, Type II | UMLS ID:C1863688 | MeSH ID:C566358 | xanthinuria type II | OMIM ID:603592 | MONDO:0011346 | DOID:0070453" +BMGC_DS12149,BMG_DS040834,"hereditary spastic paraplegia 8 | OMIM ID:603563 | MeSH ID:C580458 | MONDO:0011339 | UMLS ID:C1863704 | Spastic paraplegia 8, autosomal dominant" +BMGC_DS12150,BMG_DS040835,"UMLS ID:C1863727 | DOID:0110922 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 | MONDO:0011337 | OMIM ID:170280 | familial hemophagocytic lymphohistiocytosis 2 | OMIM ID:603553" +BMGC_DS12151,BMG_DS040836,"OMIM ID:603552 | Hemophagocytic lymphohistiocytosis, familial, 4 | MeSH ID:C537252 | UMLS ID:C1863728 | familial hemophagocytic lymphohistiocytosis 4 | MONDO:0011336" +BMGC_DS12152,BMG_DS040837,MONDO:0011335 | OMIM ID:603546 | Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type | Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) | SNOMEDCT ID:766820007 | UMLS ID:C1863732 | Spondyloepimetaphyseal dysplasia with joint laxity Hall type | Spondyloepimetaphyseal dysplasia with multiple dislocations | spondyloepimetaphyseal dysplasia with multiple dislocations | MeSH ID:C535784 | Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type | Spondyloepimetaphyseal dysplasia with joint laxity type 2 +BMGC_DS12153,BMG_DS040838,MONDO:0023069 | enlarged vestibular aqueduct syndrome | UMLS ID:C1863752 +BMGC_DS12154,BMG_DS040839,OMIM ID:603543 | limb-mammary syndrome | UMLS ID:C1863753 | OMIM ID:603273 | LIMB-MAMMARY SYNDROME | MONDO:0011334 +BMGC_DS12155,BMG_DS040842,"UMLS ID:C1863769 | MeSH ID:C566369 | Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema" +BMGC_DS12156,BMG_DS040843,MeSH ID:C537395 | MONDO:0011327 | neuronal intranuclear inclusion disease | Neuronal intranuclear inclusion disease (disorder) | UMLS ID:C1863843 | Neuronal intranuclear inclusion disease | OMIM ID:603472 | SNOMEDCT ID:715437003 +BMGC_DS12157,BMG_DS040844,citrullinemia type II | UMLS ID:C1863844 | MONDO:0016603 | MeSH ID:C538053 | Adult-onset citrullinemia type 2 +BMGC_DS12158,BMG_DS040846,SNOMEDCT ID:763132003 | UMLS ID:C1863872 | coloboma of superior eyelid | Coloboma of upper eyelid | Coloboma of superior eyelid | Superior palpebral coloboma | MONDO:0015480 | Coloboma of superior eyelid (disorder) +BMGC_DS12159,BMG_DS040847,"Arhinia, choanal atresia, and microphthalmia | arhinia, choanal atresia, and microphthalmia | MeSH ID:C537429 | MONDO:0011323 | UMLS ID:C1863878 | OMIM ID:603457" +BMGC_DS12160,BMG_DS040850,OMIM ID:603438 | MONDO:0011320 | UMLS ID:C1863881 | radioulnar synostosis-microcephaly-scoliosis syndrome +BMGC_DS12161,BMG_DS040857,Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | UMLS ID:C1863924 | MeSH ID:C566381 +BMGC_DS12162,BMG_DS040859,"OMIM ID:603383 | MeSH ID:C566383 | MONDO:0011311 | obsolete glaucoma 1, open angle, F | Glaucoma 1, Open Angle, F | UMLS ID:C1863926" +BMGC_DS12163,BMG_DS040860,"UMLS ID:C1863958 | MONDO:0011310 | OMIM ID:603376 | long chain fatty acids, defect in transport of" +BMGC_DS12164,BMG_DS040861,"OMIM ID:603373 | familial gestational hyperthyroidism | UMLS ID:C1863959 | Hyperthyroidism, Familial Gestational | MONDO:0011309 | MeSH ID:C566384" +BMGC_DS12165,BMG_DS040864,"Finnish lactic acidosis with hepatic hemosiderosis | MeSH ID:C537934 | Finnish lethal neonatal metabolic syndrome | Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder) | UMLS ID:C1864002 | GRACILE syndrome | Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death | OMIM ID:603358 | Fellman syndrome | MONDO:0011308 | SNOMEDCT ID:703388005 | DOID:0111455" +BMGC_DS12166,BMG_DS040865,schizophrenia 2 | MONDO:0011307 | OMIM ID:603342 | DOID:0070078 | SCHIZOPHRENIA 2 | UMLS ID:C1864010 +BMGC_DS12167,BMG_DS040867,UMLS ID:C1864040 | MeSH ID:C566393 | MONDO:0011305 | Cerebral Cavernous Malformations 3 | cerebral cavernous malformation 3 | OMIM ID:603285 +BMGC_DS12168,BMG_DS040868,UMLS ID:C1864041 | OMIM ID:603284 | CEREBRAL CAVERNOUS MALFORMATIONS 2 | cerebral cavernous malformation 2 | OMIM ID:607929 | MONDO:0011304 +BMGC_DS12169,BMG_DS040869,"DIABETES MELLITUS, INSULIN-DEPENDENT, 17 | OMIM ID:603266 | MONDO:0011302 | UMLS ID:C1864068 | type 1 diabetes mellitus 17" +BMGC_DS12170,BMG_DS040870,"pseudohypoparathyroidism type 1B | DOID:0080222 | OMIM ID:603233 | OMIM ID:610540 | PSEUDOHYPOPARATHYROIDISM, TYPE IB | UMLS ID:C1864100 | OMIM ID:139320 | OMIM ID:603666 | MONDO:0011301" +BMGC_DS12171,BMG_DS040871,"UMLS ID:C1864111 | Myopia 3 | MONDO:0011300 | myopia 3, autosomal dominant | OMIM ID:603221 | MeSH ID:C566397" +BMGC_DS12172,BMG_DS040872,UMLS ID:C1864112 | MONDO:0011299 | HUNTINGTON DISEASE-LIKE 1 | OMIM ID:176640 | Huntington disease-like 1 | OMIM ID:603218 +BMGC_DS12173,BMG_DS040874,"UMLS ID:C1864125 | autosomal dominant nocturnal frontal lobe epilepsy 2 | Epilepsy, Nocturnal Frontal Lobe, Type 2 | MeSH ID:C566400 | MONDO:0011297 | OMIM ID:603204" +BMGC_DS12174,BMG_DS040875,"OMIM ID:613277 | MECKEL SYNDROME, TYPE 2 | Meckel syndrome, type 2 | MONDO:0011296 | UMLS ID:C1864148 | OMIM ID:603194" +BMGC_DS12175,BMG_DS040878,"Dermatitis, Atopic, 1 | MeSH ID:C566404 | UMLS ID:C1864155" +BMGC_DS12176,BMG_DS040884,MONDO:0011287 | CDAGS SYNDROME | UMLS ID:C1864186 | OMIM ID:620204 | craniosynostosis-anal anomalies-porokeratosis syndrome | OMIM ID:603116 +BMGC_DS12177,BMG_DS040885,"DEAFNESS, AUTOSOMAL RECESSIVE 13 | OMIM ID:603098 | UMLS ID:C1864199 | MONDO:0011286 | autosomal recessive nonsyndromic hearing loss 13" +BMGC_DS12178,BMG_DS040886,"UMLS ID:C1864205 | Macular Degeneration, Age-Related, 1 | MONDO:0011285 | age related macular degeneration 1 | OMIM ID:603075 | MeSH ID:C566411" +BMGC_DS12179,BMG_DS040888,Endplate Acetylcholinesterase Deficiency | MONDO:0011281 | MeSH ID:C566415 | UMLS ID:C1864233 | congenital myasthenic syndrome 5 | OMIM ID:603034 +BMGC_DS12180,BMG_DS040890,schizophrenia 6 | OMIM ID:603013 | SCHIZOPHRENIA 6 | MONDO:0011280 | DOID:0070082 | UMLS ID:C1864275 +BMGC_DS12181,BMG_DS040891,"Deafness, Autosomal Recessive 17 | MONDO:0011279 | autosomal recessive nonsyndromic hearing loss 17 | OMIM ID:603010 | MeSH ID:C566418 | UMLS ID:C1864276" +BMGC_DS12182,BMG_DS040893,"OMIM ID:602875 | ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE | UMLS ID:C1864356 | acromesomelic dysplasia 1, Maroteaux type | MONDO:0011275" +BMGC_DS12183,BMG_DS040894,MONDO:0008304 | OMIM ID:176430 | PREMATURE CHROMATID SEPARATION TRAIT | premature chromatid separation trait | OMIM ID:602860 | UMLS ID:C1864389 +BMGC_DS12184,BMG_DS040895,"Peroxisome Biogenesis Disorder, Complementation Group 7 | MeSH ID:C566422 | UMLS ID:C1864399" +BMGC_DS12185,BMG_DS040896,Muenke Syndrome | MONDO:0011274 | DOID:0060703 | UMLS ID:C1864436 | MeSH ID:C537369 | Muenke syndrome | OMIM ID:602849 +BMGC_DS12186,BMG_DS040897,Histiocytosis with joint contractures and sensorineural deafness | UMLS ID:C1864445 | OMIM ID:602782 | H syndrome | MONDO:0011273 | MeSH ID:C538322 +BMGC_DS12187,BMG_DS040898,MONDO:0011272 | UMLS ID:C1864446 | DOID:0110384 | Retinitis Pigmentosa 25 | retinitis pigmentosa 25 | MeSH ID:C566425 | OMIM ID:602772 +BMGC_DS12188,BMG_DS040900,DOID:0080475 | OMIM ID:602723 | UMLS ID:C1864497 | OMIM ID:607211 | PSORIASIS 2 | MONDO:0011269 | psoriasis 2 +BMGC_DS12189,BMG_DS040901,autosomal recessive distal renal tubular acidosis | UMLS ID:C1864498 | MONDO:0018440 +BMGC_DS12190,BMG_DS040904,"OMIM ID:610623 | MONDO:0012527 | cataract 11 multiple types | Cataract, posterior polar, 4 | UMLS ID:C1864567 | MeSH ID:C535344" +BMGC_DS12191,BMG_DS040905,OMIM ID:610599 | retinitis pigmentosa 36 | OMIM ID:610598 | MONDO:0012523 | UMLS ID:C1864621 | RETINITIS PIGMENTOSA 36 +BMGC_DS12192,BMG_DS040906,"UMLS ID:C1864623 | MONDO:0012522 | diabetes mellitus, transient neonatal, 3 | OMIM ID:610582 | MeSH ID:C566432 | Diabetes Mellitus, Transient Neonatal, 3" +BMGC_DS12193,BMG_DS040907,"Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL | OMIM ID:610543 | UMLS ID:C1864648 | MONDO:0012519" +BMGC_DS12194,BMG_DS040909,"OMIM ID:610539 | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | OMIM ID:176801 | Gaucher disease due to saposin C deficiency | UMLS ID:C1864651 | MONDO:0012517" +BMGC_DS12195,BMG_DS040910,"Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | MONDO:0012516 | MeSH ID:C537405 | mandibulofacial dysostosis-microcephaly syndrome | UMLS ID:C1864652 | OMIM ID:610536" +BMGC_DS12196,BMG_DS040911,"MONDO:0012515 | OMIM ID:610535 | UMLS ID:C1864653 | MeSH ID:C566436 | glaucoma 1, open angle, M | Glaucoma 1, Open Angle, M" +BMGC_DS12197,BMG_DS040912,MONDO:0012514 | hypomyelinating leukodystrophy 5 | OMIM ID:610532 | UMLS ID:C1864663 +BMGC_DS12198,BMG_DS040913,"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 | OMIM ID:610131 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | MeSH ID:C566437 | MONDO:0012415 | UMLS ID:C1864668" +BMGC_DS12199,BMG_DS040914,UMLS ID:C1864669 | NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY | neuronal ceroid lipofuscinosis 10 | OMIM ID:610127 | MONDO:0012414 +BMGC_DS12200,BMG_DS040915,"UMLS ID:C1864670 | congenital neuronal ceroid lipofuscinosis | MONDO:0850001 | MeSH ID:C566438 | Neuronal Ceroid Lipofuscinosis, Congenital" +BMGC_DS12201,BMG_DS040916,"Microphthalmia, Syndromic 6 | syndromic microphthalmia 6 | MONDO:0011936 | DOID:0111805 | UMLS ID:C1864689 | microphthalmia with brain and digit anomalies | OMIM ID:607932 | MeSH ID:C566440" +BMGC_DS12202,BMG_DS040917,"MONDO:0012413 | syndromic microphthalmia type 5 | syndromic microphthalmia 5 | UMLS ID:C1864690 | DOID:0111806 | Microphthalmia, Syndromic 5 | OMIM ID:610125 | MeSH ID:C566441" +BMGC_DS12203,BMG_DS040918,DOID:0060300 | Complement Component 7 Deficiency | MONDO:0012412 | MeSH ID:C566443 | OMIM ID:610102 | UMLS ID:C1864694 | complement component 7 deficiency +BMGC_DS12204,BMG_DS040919,"MeSH ID:C566444 | OMIM ID:610100 | UMLS ID:C1864695 | MONDO:0012411 | Giant Axonal Neuropathy, Autosomal Dominant | giant axonal neuropathy 2" +BMGC_DS12205,BMG_DS040920,"MONDO:0012410 | OMIM ID:610099 | MeSH ID:C566445 | Myopathy, Distal 3 | UMLS ID:C1864706 | Finnish upper limb-onset distal myopathy" +BMGC_DS12206,BMG_DS040921,"OMIM ID:142993 | UMLS ID:C1864720 | isolated microphthalmia 2 | MICROPHTHALMIA, ISOLATED 2 | MONDO:0012409 | OMIM ID:610093" +BMGC_DS12207,BMG_DS040922,"MeSH ID:C566447 | UMLS ID:C1864721 | microphthalmia, isolated, with coloboma 3 | MONDO:0012408 | OMIM ID:610092 | Microphthalmia, Isolated, with Coloboma 3" +BMGC_DS12208,BMG_DS040923,"Microphthalmia, Cataracts, and Iris Abnormalities | UMLS ID:C1864722 | MeSH ID:C566448" +BMGC_DS12209,BMG_DS040924,DOID:0111329 | Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency | OMIM ID:610090 | MeSH ID:C566449 | pyridoxal phosphate-responsive seizures | MONDO:0012407 | pyridoxamine 5'-phosphate oxidase deficiency | UMLS ID:C1864723 +BMGC_DS12210,BMG_DS040926,"MONDO:0012405 | Polyposis Syndrome, Hereditary Mixed, 2 | OMIM ID:610069 | polyposis syndrome, hereditary mixed, 2 | UMLS ID:C1864730 | MeSH ID:C566451" +BMGC_DS12211,BMG_DS040929,"OMIM ID:610064 | opioid dependence, susceptibility to, 1 | MONDO:0012402 | UMLS ID:C1864733" +BMGC_DS12212,BMG_DS040930,"MONDO:0012401 | DOID:0060445 | OMIM ID:610048 | Corneal Dystrophy, Congenital Stromal | MeSH ID:C566452 | congenital stromal corneal dystrophy | UMLS ID:C1864738" +BMGC_DS12213,BMG_DS040931,"Deafness, Autosomal Recessive 53 | MeSH ID:C566453 | autosomal recessive nonsyndromic hearing loss 53 | OMIM ID:609706 | MONDO:0012333 | UMLS ID:C1864746" +BMGC_DS12214,BMG_DS040935,Short Stature And Facioauriculothoracic Malformations | MONDO:0012329 | short stature and Facioauriculothoracic malformations | MeSH ID:C566457 | OMIM ID:609654 | UMLS ID:C1864791 +BMGC_DS12215,BMG_DS040936,UMLS ID:C1864801 | TRICHILEMMAL CYST 1 | OMIM ID:609649 +BMGC_DS12216,BMG_DS040937,"UMLS ID:C1864815 | autosomal recessive nonsyndromic hearing loss 46 | MeSH ID:C566459 | MONDO:0012327 | OMIM ID:609647 | Deafness, Autosomal Recessive 46" +BMGC_DS12217,BMG_DS040938,"MeSH ID:C566460 | UMLS ID:C1864818 | MONDO:0012326 | autosomal recessive nonsyndromic hearing loss 42 | Deafness, Autosomal Recessive 42 | OMIM ID:609646" +BMGC_DS12218,BMG_DS040940,Frias syndrome | MeSH ID:C535639 | UMLS ID:C1864825 | MONDO:0012324 | OMIM ID:609640 +BMGC_DS12219,BMG_DS040941,"OMIM ID:609638 | lethal acantholytic epidermolysis bullosa | UMLS ID:C1864826 | Epidermolysis bullosa, lethal acantholytic | MeSH ID:C535493 | MONDO:0012323" +BMGC_DS12220,BMG_DS040942,OMIM ID:609637 | OMIM ID:603073 | HOLOPROSENCEPHALY 5 | holoprosencephaly 5 | UMLS ID:C1864827 | MONDO:0012322 +BMGC_DS12221,BMG_DS040943,OMIM ID:609636 | MONDO:0012321 | Alzheimer disease 10 | UMLS ID:C1864828 | ALZHEIMER DISEASE 10 +BMGC_DS12222,BMG_DS040944,UMLS ID:C1864839 | maturity-onset diabetes of the young type 7 | MONDO:0012513 | OMIM ID:610508 +BMGC_DS12223,BMG_DS040945,OMIM ID:610505 | MeSH ID:C566467 | MONDO:0012512 | Combined Oxidative Phosphorylation Deficiency 3 | DOID:0111486 | UMLS ID:C1864840 | combined oxidative phosphorylation deficiency 3 | fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +BMGC_DS12224,BMG_DS040946,combined oxidative phosphorylation deficiency 2 | MONDO:0012510 | Combined Oxidative Phosphorylation Deficiency 2 | MeSH ID:C566468 | DOID:0111483 | OMIM ID:610498 | combined oxidative phosphorylation defect type 2 | UMLS ID:C1864843 +BMGC_DS12225,BMG_DS040947,"UMLS ID:C1864846 | DOID:0070546 | pigmented nodular adrenocortical disease, primary, 1 | OMIM ID:610489 | Pigmented Nodular Adrenocortical Disease, Primary, 1 | MONDO:0012509 | MeSH ID:C566469 | primary pigmented nodular adrenocortical disease 1" +BMGC_DS12226,BMG_DS040949,RETINAL CONE DYSTROPHY 4 | MONDO:0012507 | retinal cone dystrophy 4 | OMIM ID:610478 | OMIM ID:608171 | UMLS ID:C1864849 +BMGC_DS12227,BMG_DS040950,"arrhythmogenic right ventricular dysplasia 11 | MeSH ID:C566471 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 | OMIM ID:610476 | UMLS ID:C1864850 | MONDO:0012506" +BMGC_DS12228,BMG_DS040951,"primary pigmented nodular adrenocortical disease 2 | DOID:0070547 | pigmented nodular adrenocortical disease, primary, 2 | Pigmented Nodular Adrenocortical Disease, Primary, 2 | MONDO:0012505 | UMLS ID:C1864851 | OMIM ID:610475 | MeSH ID:C566472" +BMGC_DS12229,BMG_DS040952,camptodactyly-tall stature-scoliosis-hearing loss syndrome | DOID:0111160 | MeSH ID:C537975 | OMIM ID:610474 | UMLS ID:C1864852 | CATSHL syndrome | MONDO:0012504 +BMGC_DS12230,BMG_DS040953,"normophosphatemic familial tumoral calcinosis | UMLS ID:C1864861 | MONDO:0012502 | Tumoral Calcinosis, Normophosphatemic, Familial | OMIM ID:610455 | MeSH ID:C566473" +BMGC_DS12231,BMG_DS040954,"UMLS ID:C1864868 | MONDO:0012499 | Buruli ulcer, susceptibility to | OMIM ID:610446" +BMGC_DS12232,BMG_DS040955,"UMLS ID:C1864869 | congenital stationary night blindness autosomal dominant 1 | Night Blindness, Congenital Stationary, Autosomal Dominant 1 | MeSH ID:C566474 | OMIM ID:610445 | MONDO:0012498" +BMGC_DS12233,BMG_DS040956,"MeSH ID:C566475 | Night Blindness, Congenital Stationary, Autosomal Dominant 3 | UMLS ID:C1864870 | congenital stationary night blindness autosomal dominant 3 | MONDO:0012497 | OMIM ID:610444" +BMGC_DS12234,BMG_DS040957,MONDO:0018216;MONDO:0012496 | OMIM ID:610443 | Chromosome 17q21.31 Deletion Syndrome | Koolen-de Vries syndrome | Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome | UMLS ID:C1864871 | MeSH ID:C566476 +BMGC_DS12235,BMG_DS040958,"Spondyloepimetaphyseal dysplasia, Genevieve type | MeSH ID:C535785 | UMLS ID:C1864872 | MONDO:0012495 | spondyloepimetaphyseal dysplasia, Genevieve-type | spondyloepimetaphyseal dysplasia, Genevieve type | OMIM ID:610442 | DOID:0080576" +BMGC_DS12236,BMG_DS040959,MONDO:0012494 | MeSH ID:C566478 | testicular microlithiasis | UMLS ID:C1864873 | Testicular Microlithiasis | 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 | OMIM ID:610424 | MONDO:0012488" +BMGC_DS12239,BMG_DS040967,retinal cone dystrophy 3A | MONDO:0012398 | DOID:0081025 | MeSH ID:C566483 | Retinal Cone Dystrophy 3A | OMIM ID:610024 | UMLS ID:C1864900 +BMGC_DS12240,BMG_DS040968,"OMIM ID:610023 | MONDO:0012397 | MeSH ID:C566484 | brachydactyly, coloboma, and anterior segment dysgenesis | UMLS ID:C1864901 | Brachydactyly, Coloboma, And Anterior Segment Dysgenesis" +BMGC_DS12241,BMG_DS040969,"MeSH ID:C538376 | UMLS ID:C1864902 | Hyperinsulinemic hypoglycemia, familial, 7 | familial hyperinsulinemic hypoglycemia 7 | OMIM ID:610021 | exercise-induced hyperinsulinism | MONDO:0012396 | DOID:0070214" +BMGC_DS12242,BMG_DS040970,UMLS ID:C1864903 | Hyperinsulinemic hypoglycemia | MONDO:0005803 | OMIM ID:MTHU000368 | hyperinsulinemic hypoglycemia +BMGC_DS12243,BMG_DS040971,"MeSH ID:C535337 | UMLS ID:C1864908 | OMIM ID:610019 | MONDO:0012395 | cataract 18 | Cataract, autosomal recessive congenital 2" +BMGC_DS12244,BMG_DS040972,"OMIM ID:610015 | Glutamine deficiency, congenital | MONDO:0012393 | UMLS ID:C1864910 | congenital brain dysgenesis due to glutamine synthetase deficiency | MeSH ID:C536832" +BMGC_DS12245,BMG_DS040973,UMLS ID:C1864912 | 2-Methylbutyryl-CoA Dehydrogenase Deficiency | 2-methylbutyryl-CoA dehydrogenase deficiency | MeSH ID:C566487 | MONDO:0012392 | OMIM ID:610006 +BMGC_DS12246,BMG_DS040974,Northern epilepsy syndrome | MONDO:0012391 | OMIM ID:610003 | neuronal ceroid lipofuscinosis 8 northern epilepsy variant | UMLS ID:C1864923 | MeSH ID:C537952 +BMGC_DS12247,BMG_DS040979,Osteosclerosis with ichthyosis and premature ovarian failure | MeSH ID:C536064 | MONDO:0012387 | osteosclerosis-ichthyosis-premature ovarian failure syndrome | UMLS ID:C1864942 | OMIM ID:609993 +BMGC_DS12248,BMG_DS040983,"immunodeficiency 54 | UMLS ID:C1864947 | DOID:0111967 | OMIM ID:609981 | primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | MeSH ID:C566492 | MONDO:0012383 | Natural Killer Cell Deficiency, Familial Isolated" +BMGC_DS12249,BMG_DS040984,"Hyperinsulinemic Hypoglycemia, Familial, 4 | OMIM ID:609975 | hyperinsulinemic hypoglycemia, familial, 4 | MONDO:0012382 | UMLS ID:C1864948 | MeSH ID:C566493" +BMGC_DS12250,BMG_DS040985,"Hyperinsulinemic Hypoglycemia, Familial, 5 | OMIM ID:609968 | UMLS ID:C1864952 | MeSH ID:C566494 | MONDO:0012381 | hyperinsulinism due to INSR deficiency" +BMGC_DS12251,BMG_DS040986,"MeSH ID:C566495 | Deafness, Autosomal Dominant 53 | UMLS ID:C1864957 | OMIM ID:609965 | autosomal dominant nonsyndromic hearing loss 53 | MONDO:0012380" +BMGC_DS12252,BMG_DS040990,"UMLS ID:C1864962 | MONDO:0012376 | OMIM ID:609952 | DEAFNESS, AUTOSOMAL RECESSIVE 55 | autosomal recessive nonsyndromic hearing loss 55" +BMGC_DS12253,BMG_DS040991,"MeSH ID:C566498 | MONDO:0012375 | Deafness, Autosomal Recessive 47 | autosomal recessive nonsyndromic hearing loss 47 | OMIM ID:609946 | UMLS ID:C1864964" +BMGC_DS12254,BMG_DS040992,"OMIM ID:609945 | brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | MONDO:0012374 | MeSH ID:C537100 | Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia | UMLS ID:C1864965" +BMGC_DS12255,BMG_DS040993,"ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features | OMIM ID:609944 | MeSH ID:C536182 | MONDO:0012373 | UMLS ID:C1864966 | Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features" +BMGC_DS12256,BMG_DS040994,"DEAFNESS, AUTOSOMAL RECESSIVE 51 | OMIM ID:609941 | UMLS ID:C1864968 | MONDO:0012370 | autosomal recessive nonsyndromic hearing loss 51" +BMGC_DS12257,BMG_DS040996,"MeSH ID:C566500 | Migraine, Familial Hemiplegic, 3 | OMIM ID:609634 | migraine, familial hemiplegic, 3 | UMLS ID:C1864987 | MONDO:0012320" +BMGC_DS12258,BMG_DS040999,"MeSH ID:C566502 | Visceral Neuropathy, Familial, Autosomal Dominant | UMLS ID:C1864996 | MONDO:0012317 | OMIM ID:609629 | visceral neuropathy, familial, 3, autosomal dominant" +BMGC_DS12259,BMG_DS041000,"SNOMEDCT ID:703540008 | OMIM ID:609628 | Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis | Majeed syndrome | Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and neutrophilic dermatosis | ICD10 ID:M04.8 | Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (disorder) | UMLS ID:C1864997 | MeSH ID:C537839 | MONDO:0012316" +BMGC_DS12260,BMG_DS041001,Short QT Syndrome 3 | MONDO:0012314 | OMIM ID:609622 | UMLS ID:C1865018 | MeSH ID:C566504 | short QT syndrome type 3 +BMGC_DS12261,BMG_DS041002,MONDO:0012313 | short QT syndrome type 2 | UMLS ID:C1865019 | Short QT Syndrome 2 | MeSH ID:C566505 | OMIM ID:609621 +BMGC_DS12262,BMG_DS041003,short QT syndrome type 1 | UMLS ID:C1865020 | MONDO:0012312 | OMIM ID:609620 | MeSH ID:C566506 | Short QT Syndrome 1 +BMGC_DS12263,BMG_DS041004,"spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness | Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness | OMIM ID:609616 | MONDO:0012311 | UMLS ID:C1865022 | MeSH ID:C566507" +BMGC_DS12264,BMG_DS041005,"MeSH ID:C566508 | fibrosis of extraocular muscles, congenital, with synergistic divergence | MONDO:0012310 | UMLS ID:C1865040 | OMIM ID:609612" +BMGC_DS12265,BMG_DS041007,parietal foramina 2 | OMIM ID:609597 | UMLS ID:C1865044 | MONDO:0012309 | OMIM ID:605420 | PARIETAL FORAMINA 2 +BMGC_DS12266,BMG_DS041008,"UMLS ID:C1865070 | familial scaphocephaly syndrome, McGillivray type | MONDO:0012307 | SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT | OMIM ID:176943 | OMIM ID:609579" +BMGC_DS12267,BMG_DS041010,"tooth agenesis, selective, 2 | Tooth Agenesis, Selective, 2 | UMLS ID:C1865092 | MONDO:0011265 | OMIM ID:602639 | MeSH ID:C566513" +BMGC_DS12268,BMG_DS041011,"OMIM ID:602613 | skeletal dysplasia and progressive central nervous system degeneration, lethal | MONDO:0011263 | Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal | MeSH ID:C566514 | UMLS ID:C1865117" +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,MONDO:0011257 | UMLS ID:C1865145 | MPI-congenital disorder of glycosylation | OMIM ID:602579 | MeSH ID:C535740 | Congenital disorder of glycosylation type 1B +BMGC_DS12271,BMG_DS041018,UMLS ID:C1865181 | MONDO:0011255 | MeSH ID:C566520 | mandibulofacial dysostosis-macroblepharon-macrostomia syndrome | OMIM ID:602562 | Mandibulofacial Dysostosis with Macroblepharon and Macrostomia +BMGC_DS12272,BMG_DS041021,"spondyloepimetaphyseal dysplasia, Shohat type | UMLS ID:C1865185 | MeSH ID:C566523 | Spondyloepimetaphyseal Dysplasia, Shohat Type | OMIM ID:602557 | MONDO:0011252" +BMGC_DS12273,BMG_DS041024,UMLS ID:C1865205 | Torsion dystonia with onset in infancy | OMIM ID:602554 | torsion dystonia with onset in infancy | MONDO:0011249 | DOID:0090058 | MeSH ID:C536969 +BMGC_DS12274,BMG_DS041027,"MONDO:0011246 | MeSH ID:C566527 | Muscular Dystrophy, Congenital, Megaconial Type | OMIM ID:602541 | UMLS ID:C1865233 | megaconial type congenital muscular dystrophy" +BMGC_DS12275,BMG_DS041028,"OMIM ID:602540 | ichthyosis, hystrix-like, with hearing loss | UMLS ID:C1865234 | MONDO:0011245 | ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS" +BMGC_DS12276,BMG_DS041029,"UMLS ID:C1865267 | grange syndrome | OMIM ID:602531 | MeSH ID:C566529 | MONDO:0011243 | Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly" +BMGC_DS12277,BMG_DS041030,OMIM ID:602522 | UMLS ID:C1865270 | MONDO:0011242 | Bartter disease type 4A +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,"colobomatous macrophthalmia-microcornea syndrome | MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA | OMIM ID:602499 | UMLS ID:C1865286 | MONDO:0011239" +BMGC_DS12280,BMG_DS041034,"hyperlipidemia, combined, 1 | OMIM ID:602491 | HYPERLIPIDEMIA, COMBINED, 1 | MONDO:0011237 | UMLS ID:C1865289" +BMGC_DS12281,BMG_DS041035,"MeSH ID:C538374 | Hyperinsulinemic hypoglycemia, familial, 3 | MONDO:0011236 | OMIM ID:602485 | UMLS ID:C1865290 | hyperinsulinism due to glucokinase deficiency" +BMGC_DS12282,BMG_DS041037,pelvic dysplasia-arthrogryposis of lower limbs syndrome | UMLS ID:C1865294 | Pelvic dysplasia arthrogryposis of lower limbs | MONDO:0011235 | OMIM ID:602484 | MeSH ID:C535548 +BMGC_DS12283,BMG_DS041038,Dysgnathia complex | Auriculo-condylar syndrome | MeSH ID:C538270 | Auriculo-condylar syndrome (disorder) | Auriculocondylar syndrome | Question-mark ear syndrome | SNOMEDCT ID:702443003 | UMLS ID:C1865295 | auriculocondylar syndrome | MONDO:0000107 +BMGC_DS12284,BMG_DS041039,"OMIM ID:182340 | migraine, familial hemiplegic, 2 | DOID:0111182 | UMLS ID:C1865322 | familial hemiplegic migraine 2 | MIGRAINE, FAMILIAL HEMIPLEGIC, 2 | OMIM ID:602481 | MONDO:0011232" +BMGC_DS12285,BMG_DS041040,"MeSH ID:C566540 | Migraine, Familial Basilar | UMLS ID:C1865323" +BMGC_DS12286,BMG_DS041041,"MONDO:0011231 | Febrile Convulsions, Familial, 2 | febrile seizures, familial, 2 | UMLS ID:C1865342 | MeSH ID:C566541" +BMGC_DS12287,BMG_DS041042,ossification of the posterior longitudinal ligament of the spine | ossification of the posterior longitudinal ligament of spine | OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE | MONDO:0011230 | OMIM ID:602475 | UMLS ID:C1865343 | DOID:0060887 +BMGC_DS12288,BMG_DS041043,SNOMEDCT ID:811000124106 | MeSH ID:C535737 | OMIM ID:602473 | DOID:0060640 | UMLS ID:C1865349 | Ethylmalonic encephalopathy | ethylmalonic encephalopathy | Ethylmalonic encephalopathy (disorder) | MONDO:0011229 | SNOMEDCT ID:723307008 +BMGC_DS12289,BMG_DS041045,short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | OMIM ID:602471 | MONDO:0011227 | UMLS ID:C1865361 +BMGC_DS12290,BMG_DS041046,"MeSH ID:C566545 | OMIM ID:602459 | Deafness, Autosomal Dominant 15 | MONDO:0011226 | UMLS ID:C1865366 | autosomal dominant nonsyndromic hearing loss 15" +BMGC_DS12291,BMG_DS041047,MONDO:0011225 | severe combined immunodeficiency with sensitivity to ionizing radiation | severe combined immunodeficiency due to DCLRE1C deficiency | DOID:0090012 | Severe combined immunodeficiency with sensitivity to ionizing radiation | MeSH ID:C537589 | OMIM ID:602450 | UMLS ID:C1865370 +BMGC_DS12292,BMG_DS041048,"UMLS ID:C1865371 | OMIM ID:602450 | SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE" +BMGC_DS12293,BMG_DS041049,"OMIM ID:605988 | UMLS ID:C1865373 | OMIM ID:602450 | SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL" +BMGC_DS12294,BMG_DS041050,"MeSH ID:C538253 | OMIM ID:602440 | monomelic amyotrophy | MONDO:0011224 | Amyotrophy, monomelic | UMLS ID:C1865384" +BMGC_DS12295,BMG_DS041051,"UMLS ID:C1865409 | OMIM ID:602433 | amyotrophic lateral sclerosis type 4 | MeSH ID:C566550 | MONDO:0011223 | Amyotrophic Lateral Sclerosis 4, Juvenile" +BMGC_DS12296,BMG_DS041053,congenital bilateral absence of vas deferens | MONDO:0018801 | UMLS ID:C1865433 +BMGC_DS12297,BMG_DS041054,Weyers ulnar ray-oligodactyly syndrome | OMIM ID:602418 | MONDO:0011221 | Weyers ulnar ray/oligodactyly syndrome | MeSH ID:C536696 | UMLS ID:C1865566 +BMGC_DS12298,BMG_DS041057,MONDO:0011217 | OMIM ID:602398 | Desmosterolosis | SNOMEDCT ID:709490002 | UMLS ID:C1865596 | Desmosterolosis (disorder) | MeSH ID:C566555 | desmosterolosis +BMGC_DS12299,BMG_DS041058,"OMIM ID:602390 | hemochromatosis type 2A | OMIM ID:608374 | UMLS ID:C1865614 | MONDO:0011216 | DOID:0111027 | HEMOCHROMATOSIS, TYPE 2A" +BMGC_DS12300,BMG_DS041059,"OMIM ID:613313 | HEMOCHROMATOSIS, TYPE 2B | MONDO:0013220 | hemochromatosis type 2B | DOID:0111032 | OMIM ID:606464 | UMLS ID:C1865616" +BMGC_DS12301,BMG_DS041060,MeSH ID:C537291 | UMLS ID:C1865639 | MONDO:0011215 | Osteocraniostenosis | OMIM ID:602361 | Osteocraniosplenic syndrome | osteocraniostenosis | Gracile bone dysplasia | SNOMEDCT ID:722109008 | Osteocraniostenosis (disorder) +BMGC_DS12302,BMG_DS041061,"MeSH ID:C535935 | progressive familial intrahepatic cholestasis 3 | MONDO:0011214 | OMIM ID:602347 | DOID:0070223 | progressive familial intrahepatic cholestasis type 3 | UMLS ID:C1865643 | Cholestasis, progressive familial intrahepatic 3" +BMGC_DS12303,BMG_DS041062,"MeSH ID:C566559 | Pierpont syndrome | OMIM ID:602342 | UMLS ID:C1865644 | Plantar Lipomatosis, Unusual Facies, and Developmental Delay | MONDO:0011213" +BMGC_DS12304,BMG_DS041064,"OMIM ID:602271 | MONDO:0011211 | DOID:0112299 | Spondylometaphyseal dysplasia, axial | axial spondylometaphyseal dysplasia | MeSH ID:C535795 | UMLS ID:C1865695" +BMGC_DS12305,BMG_DS041067,"MONDO:0011207 | OMIM ID:602247 | xanthomatosis, susceptibility to | XANTHOMATOSIS, SUSCEPTIBILITY TO | UMLS ID:C1865704" +BMGC_DS12306,BMG_DS041068,MeSH ID:C566565 | MONDO:0011206 | Ventriculomegaly With Defects Of The Radius And Kidney | ventriculomegaly with defects of the radius and kidney | UMLS ID:C1865780 | OMIM ID:602200 +BMGC_DS12307,BMG_DS041069,medium chain 3-ketoacyl-Coa thiolase deficiency | Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency | MeSH ID:C566566 | UMLS ID:C1865781 | OMIM ID:602199 | MONDO:0011205 +BMGC_DS12308,BMG_DS041070,Pierre Robin sequence with pectus excavatum and rib and scapular anomalies | UMLS ID:C1865783 | MeSH ID:C535775 | MONDO:0011203 | OMIM ID:602196 +BMGC_DS12309,BMG_DS041071,"MeSH ID:C537612 | SNOMEDCT ID:723999009 | Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome | RHYNS syndrome | Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) | UMLS ID:C1865794 | OMIM ID:602152 | RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome | MONDO:0011202" +BMGC_DS12310,BMG_DS041074,"tremor, hereditary essential, 2 | MONDO:0011201 | OMIM ID:602134 | UMLS ID:C1865810 | essential tremor 2 | TREMOR, HEREDITARY ESSENTIAL, 2 | DOID:0111429" +BMGC_DS12311,BMG_DS041075,torsion dystonia 7 | Torsion dystonia 7 | MeSH ID:C566572 | UMLS ID:C1865818 | MONDO:0011200 | OMIM ID:602124 +BMGC_DS12312,BMG_DS041076,"CERVICAL DYSTONIA, PRIMARY | torsion dystonia 7 | DOID:0090040 | UMLS ID:C1865819 | OMIM ID:602124" +BMGC_DS12313,BMG_DS041077,"Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease | MONDO:0011199 | MeSH ID:C566573 | UMLS ID:C1865831 | nephropathy, progressive tubulointerstitial, with cholestatic liver disease | OMIM ID:602114" +BMGC_DS12314,BMG_DS041078,"MONDO:0011198 | Spondyloepimetaphyseal Dysplasia, Missouri Type | MeSH ID:C566574 | UMLS ID:C1865832 | OMIM ID:602111 | DOID:0080030 | spondyloepimetaphyseal dysplasia, Missouri type" +BMGC_DS12315,BMG_DS041080,OMIM ID:602099 | MONDO:0011196 | amyotrophic lateral sclerosis type 5 | UMLS ID:C1865864 +BMGC_DS12316,BMG_DS041081,"MeSH ID:C566577 | UMLS ID:C1865865 | Usher syndrome type 1E | Usher Syndrome, Type IE | MONDO:0011195 | OMIM ID:602097" +BMGC_DS12317,BMG_DS041082,SNOMEDCT ID:700453005 | Congenital sensorineural deafness | Congenital sensorineural hearing loss (disorder) | OMIM ID:MTHU013508 | UMLS ID:C1865866 | Congenital sensorineural hearing loss +BMGC_DS12318,BMG_DS041083,ALZHEIMER DISEASE 5 | UMLS ID:C1865868 | OMIM ID:602096 | MONDO:0011194 | Alzheimer disease 5 +BMGC_DS12319,BMG_DS041084,cone dystrophy 3 | OMIM ID:602093 | Cone Dystrophy 3 | MONDO:0011193 | MeSH ID:C566579 | cone-rod dystrophy 14 | UMLS ID:C1865869 | DOID:0080314 +BMGC_DS12320,BMG_DS041085,"MeSH ID:C566580 | UMLS ID:C1865870 | OMIM ID:602092 | MONDO:0011192 | Deafness, Autosomal Recessive 18 | autosomal recessive nonsyndromic hearing loss 18A" +BMGC_DS12321,BMG_DS041086,"UMLS ID:C1865871 | OMIM ID:602089 | HEMANGIOMA, CAPILLARY INFANTILE | MONDO:0011191 | capillary infantile hemangioma" +BMGC_DS12322,BMG_DS041087,OMIM ID:243305 | UMLS ID:C1865872 | MONDO:0011190 | nephronophthisis 2 | OMIM ID:602088 | NEPHRONOPHTHISIS 2 +BMGC_DS12323,BMG_DS041088,"MONDO:0011189 | arrhythmogenic right ventricular dysplasia 4 | UMLS ID:C1865881 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 | OMIM ID:602087 | MeSH ID:C566583" +BMGC_DS12324,BMG_DS041089,"UMLS ID:C1865882 | MONDO:0011188 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 | OMIM ID:602086 | arrhythmogenic right ventricular dysplasia 3 | MeSH ID:C566584" +BMGC_DS12325,BMG_DS041090,"MeSH ID:C566585 | polydactyly, postaxial, type A2 | UMLS ID:C1865883 | MONDO:0011187 | Polydactyly, Postaxial, Type A2 | OMIM ID:602085" +BMGC_DS12326,BMG_DS041091,"Usher Syndrome, Type IF | Usher syndrome type 1F | MONDO:0011186 | OMIM ID:602083 | UMLS ID:C1865885 | MeSH ID:C566586" +BMGC_DS12327,BMG_DS041092,"fibrosis of extraocular muscles, congenital, 2 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 | OMIM ID:602078 | UMLS ID:C1865915 | DOID:0081016 | OMIM ID:602753 | MONDO:0011181 | congenital fibrosis of the extraocular muscles 2" +BMGC_DS12328,BMG_DS041093,Bilateral ptosis | OMIM ID:MTHU005602 | UMLS ID:C1865916 +BMGC_DS12329,BMG_DS041094,"MeSH ID:C566588 | Broad Terminal Phalanges, Familial | OMIM ID:602071 | UMLS ID:C1865923 | broad terminal phalanges, familial | MONDO:0011180" +BMGC_DS12330,BMG_DS041095,"OMIM ID:602066 | Infantile convulsions and paroxysmal choreoathetosis, familial | infantile convulsions and choreoathetosis | MONDO:0011178 | MeSH ID:C535522 | UMLS ID:C1865926" +BMGC_DS12331,BMG_DS041096,pure hair and nail ectodermal dysplasia | DOID:0111655 | UMLS ID:C1865951 +BMGC_DS12332,BMG_DS041097,"MeSH ID:C566593 | MONDO:0011176 | UMLS ID:C1865974 | intestinal hypomagnesemia 1 | Hypomagnesemia 1, Intestinal | OMIM ID:602014" +BMGC_DS12333,BMG_DS041098,UMLS ID:C1865981 | MONDO:0011175 | Friedreich ataxia 2 | OMIM ID:601992 | FRIEDREICH ATAXIA 2 +BMGC_DS12334,BMG_DS041099,hyperzincemia with functional zinc depletion | UMLS ID:C1865986 | Hyperzincemia with Functional Zinc Depletion | MONDO:0011174 | OMIM ID:601979 | MeSH ID:C566595 +BMGC_DS12335,BMG_DS041101,MeSH ID:C566598 | odonto-tricho-ungual-digito-palmar syndrome | Odontotrichoungual-Digital-Palmar Syndrome | OMIM ID:601957 | MONDO:0011171 | UMLS ID:C1865998 +BMGC_DS12336,BMG_DS041102,"autosomal recessive limb-girdle muscular dystrophy type 2G | MeSH ID:C566599 | MONDO:0011170 | Muscular Dystrophy, Limb-Girdle, Type 2G | OMIM ID:601954 | UMLS ID:C1866008" +BMGC_DS12337,BMG_DS041103,Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma | UMLS ID:C1866029 | MONDO:0011169 | keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | MeSH ID:C566600 | OMIM ID:601952 +BMGC_DS12338,BMG_DS041104,"DOID:0050993 | OMIM ID:601949 | MONDO:0013464 | episodic ataxia type 5 | UMLS ID:C1866039 | EPISODIC ATAXIA, TYPE 5 | OMIM ID:613855" +BMGC_DS12339,BMG_DS041105,"UMLS ID:C1866040 | OMIM ID:601942 | DIABETES MELLITUS, INSULIN-DEPENDENT, 10 | type 1 diabetes mellitus 10 | MONDO:0011168" +BMGC_DS12340,BMG_DS041106,"MONDO:0011167 | DIABETES MELLITUS, INSULIN-DEPENDENT, 6 | UMLS ID:C1866041 | OMIM ID:601941 | type 1 diabetes mellitus 6" +BMGC_DS12341,BMG_DS041107,Severe hydrops | UMLS ID:C1866048 | OMIM ID:MTHU041796 +BMGC_DS12342,BMG_DS041108,"UMLS ID:C1866053 | OMIM ID:617992 | deafness, congenital heart defects, and posterior embryotoxon | MONDO:0060713 | Deafness, Congenital Heart Defects, and Posterior Embryotoxon | MeSH ID:C566604" +BMGC_DS12343,BMG_DS041109,orofacial cleft 10 | OMIM ID:613705 | UMLS ID:C1866070 | MONDO:0013378 +BMGC_DS12344,BMG_DS041110,UMLS ID:C1866075 | MONDO:0011165 | glomerulopathy with fibronectin deposits 2 | OMIM ID:601894 +BMGC_DS12345,BMG_DS041112,"UMLS ID:C1866077 | OMIM ID:601887 | malignant hyperthermia, susceptibility to, 5 | MONDO:0011163" +BMGC_DS12346,BMG_DS041113,"OMIM ID:601885 | Cataract, Zonular Pulverulent 3 | MeSH ID:C566608 | UMLS ID:C1866078 | cataract 14 multiple types | MONDO:0011162" +BMGC_DS12347,BMG_DS041114,MeSH ID:C566610 | Left-Right Axis Malformations | UMLS ID:C1866091 +BMGC_DS12348,BMG_DS041115,"DEAFNESS, AUTOSOMAL RECESSIVE 15 | OMIM ID:601869 | OMIM ID:608792 | autosomal recessive nonsyndromic hearing loss 15 | MONDO:0011160 | UMLS ID:C1866094" +BMGC_DS12349,BMG_DS041116,"MeSH ID:C566612 | MONDO:0011159 | autosomal dominant nonsyndromic hearing loss 13 | UMLS ID:C1866095 | OMIM ID:601868 | Deafness, Autosomal Dominant 13" +BMGC_DS12350,BMG_DS041117,"Autoimmune Lymphoproliferative Syndrome, Type IA | MeSH ID:C566613 | UMLS ID:C1866119" +BMGC_DS12351,BMG_DS041118,"UMLS ID:C1866120 | Autoimmune Lymphoproliferative Syndrome, Type IB | MeSH ID:C566614" +BMGC_DS12352,BMG_DS041121,OMIM ID:601846 | Vacuolar Neuromyopathy | UMLS ID:C1866139 | MeSH ID:C566617 | vacuolar Neuromyopathy | MONDO:0011155 +BMGC_DS12353,BMG_DS041123,MONDO:0011152 | Phosphoglycerate Dehydrogenase Deficiency | MeSH ID:C566618 | OMIM ID:601815 | PHGDH deficiency | UMLS ID:C1866174 | DOID:0050722 +BMGC_DS12354,BMG_DS041124,exudative vitreoretinopathy 4 | MeSH ID:C566619 | OMIM ID:601813 | MONDO:0011151 | Exudative Vitreoretinopathy 4 | DOID:0111411 | UMLS ID:C1866176 +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,"MeSH ID:C566621 | premature aging syndrome, Okamoto type | UMLS ID:C1866183 | Premature Aging Syndrome, Okamoto Type | OMIM ID:601811 | MONDO:0011149" +BMGC_DS12357,BMG_DS041127,Spondylospinal Thoracic Dysostosis | UMLS ID:C1866184 | OMIM ID:601809 | Spondylospinal thoracic dysostosis | MONDO:0011148 | MeSH ID:C566622 +BMGC_DS12358,BMG_DS041128,MeSH ID:C566623 | UMLS ID:C1866256 | OMIM ID:601794 | Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | MONDO:0011145 | colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome +BMGC_DS12359,BMG_DS041129,"MONDO:0800365 | MeSH ID:C566624 | Peroxisome Biogenesis Disorder, Complementation Group K | UMLS ID:C1866257 | peroxisome biogenesis disorder, complementation group K" +BMGC_DS12360,BMG_DS041132,Retinal cone dystrophy 2 | MeSH ID:C538363 | OMIM ID:601777 | cone-rod dystrophy 6 | MONDO:0011143 | UMLS ID:C1866293 +BMGC_DS12361,BMG_DS041133,"UMLS ID:C1866294 | MONDO:0011142 | Ehlers-Danlos syndrome, musculocontractural type" +BMGC_DS12362,BMG_DS041134,OMIM ID:601759 | MONDO:0011139 | Preaxial Hallucal Polydactyly | preaxial hallucal polydactyly | UMLS ID:C1866339 | MeSH ID:C566632 +BMGC_DS12363,BMG_DS041138,"MONDO:0011138 | UMLS ID:C1866373 | OMIM ID:601744 | systemic lupus erythematosus, susceptibility to, 1" +BMGC_DS12364,BMG_DS041139,UMLS ID:C1866398 | Proteus-Like Syndrome | MONDO:0017571 | Proteus Syndrome | Proteus-like syndrome | MeSH ID:D016715 +BMGC_DS12365,BMG_DS041140,retinitis pigmentosa 19 | UMLS ID:C1866422 | MONDO:0011137 | OMIM ID:601718 | OMIM ID:601691 | RETINITIS PIGMENTOSA 19 +BMGC_DS12366,BMG_DS041141,DOID:0111050 | MeSH ID:C536260 | Quebec platelet disorder | OMIM ID:601709 | UMLS ID:C1866423 | MONDO:0011136 +BMGC_DS12367,BMG_DS041142,"Superior Transverse Scapular Ligament, Calcification Of, Familial | OMIM ID:601708 | UMLS ID:C1866424 | superior transverse scapular ligament, calcification of, familial | MONDO:0011135 | MeSH ID:C566638" +BMGC_DS12368,BMG_DS041143,"MONDO:0011133 | deaf blind hypopigmentation syndrome, Yemenite type | Yemenite deaf-blind hypopigmentation syndrome | MeSH ID:C536771 | OMIM ID:601706 | UMLS ID:C1866425" +BMGC_DS12369,BMG_DS041144,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy | UMLS ID:C1866426 | DOID:0060769 | MONDO:0011132 | OMIM ID:601705 | MeSH ID:C536781 | T-cell immunodeficiency, congenital alopecia and nail dystrophy" +BMGC_DS12370,BMG_DS041145,MeSH ID:C537441 | Arthrogryposis and ectodermal dysplasia | MONDO:0011131 | UMLS ID:C1866427 | OMIM ID:601701 | tricho-oculo-dermo-vertebral syndrome +BMGC_DS12371,BMG_DS041146,"OMIM ID:601700 | sebaceous gland hyperplasia, familial presenile | MeSH ID:C537530 | MONDO:0011130 | Sebaceous gland hyperplasia, familial presenile | UMLS ID:C1866428" +BMGC_DS12372,BMG_DS041148,MONDO:0011129 | UMLS ID:C1866483 | OMIM ID:601682 | glaucoma type 1C +BMGC_DS12373,BMG_DS041149,"Bartter disease type 1 | MeSH ID:C537652 | UMLS ID:C1866495 | Bartter syndrome, antenatal type 1 | OMIM ID:601678 | MONDO:0100344" +BMGC_DS12374,BMG_DS041151,"UMLS ID:C1866504 | MONDO:0011125 | OMIM ID:601675 | DOID:0111868;DOID:2960 | Photosensitive Trichothiodystrophy | nonphotosensitive trichothiodystrophy 5 | MeSH ID:D054463 | trichothiodystrophy 1, photosensitive | photosensitive trichothiodystrophy | Trichothiodystrophy Syndromes" +BMGC_DS12375,BMG_DS041154,"UMLS ID:C1866519 | OMIM ID:601666 | type 1 diabetes mellitus 15 | DIABETES MELLITUS, INSULIN-DEPENDENT, 15 | MONDO:0011123" +BMGC_DS12376,BMG_DS041155,paragangliomas 2 | UMLS ID:C1866552 | MONDO:0011121 | Paragangliomas 2 | MeSH ID:C566646 | OMIM ID:601650 +BMGC_DS12377,BMG_DS041156,"Neural tube defect, folate-sensitive | MeSH ID:C536409 | neural tube defects, folate-sensitive | OMIM ID:601634 | UMLS ID:C1866558 | MONDO:0011120" +BMGC_DS12378,BMG_DS041158,"Iridogoniodysgenesis, Type 1 | MONDO:0024456 | anterior segment dysgenesis 3 | OMIM ID:601631 | UMLS ID:C1866560 | MeSH ID:C535535" +BMGC_DS12379,BMG_DS041160,UMLS ID:C1866608 | Iris Pigment Epithelium Anomalies | iris pigment epithelium anomalies | OMIM ID:601616 | MONDO:0011117 | MeSH ID:C566651 +BMGC_DS12380,BMG_DS041161,UMLS ID:C1866619 | spastic paraplegia and Evans syndrome | MONDO:0011115 | OMIM ID:601608 | MeSH ID:C566652 | Spastic Paraplegia And Evans Syndrome +BMGC_DS12381,BMG_DS041163,"OMIM ID:601596 | Charcot-Marie-Tooth disease type 4C | MONDO:0011113 | OMIM ID:608206 | UMLS ID:C1866636 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C" +BMGC_DS12382,BMG_DS041164,Steinfeld Syndrome | MONDO:0008488 | MeSH ID:C566655 | OMIM ID:184705 | holoprosencephaly-radial heart renal anomalies syndrome | UMLS ID:C1866649 +BMGC_DS12383,BMG_DS041165,MONDO:0008486 | OMIM ID:184510 | UMLS ID:C1866650 | Steatocystoma multiplex with natal teeth | MeSH ID:C537487 | steatocystoma multiplex-natal teeth syndrome +BMGC_DS12384,BMG_DS041166,MONDO:0008484 | UMLS ID:C1866656 | Stapes ankylosis with broad thumb and toe syndrome (disorder) | Teunissen Cremers syndrome | OMIM ID:184460 | Stapes ankylosis with broad thumb and toe syndrome | stapes ankylosis with broad thumbs and toes | SNOMEDCT ID:719305006 +BMGC_DS12385,BMG_DS041167,"DOID:0112296 | MeSH ID:C535794 | UMLS ID:C1866688 | spondylometaphyseal dysplasia Algerian type | OMIM ID:184253 | MONDO:0008478 | spondylometaphyseal dysplasia, Schmidt type | Spondylometaphyseal dysplasia, Algerian type" +BMGC_DS12386,BMG_DS041168,"spondyloepiphyseal dysplasia tarda, autosomal dominant | MONDO:0008474 | OMIM ID:184100 | UMLS ID:C1866717 | MeSH ID:C566658 | Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant" +BMGC_DS12387,BMG_DS041172,"DOID:0080604 | ankylosing spondylitis 2 | MONDO:0008468 | UMLS ID:C1866738 | OMIM ID:183840 | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2 | spondyloarthropathy, susceptibility to, 2" +BMGC_DS12388,BMG_DS041174,"SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS | Karsch-Neugebauer syndrome | MONDO:0008466 | UMLS ID:C1866740 | OMIM ID:183800" +BMGC_DS12389,BMG_DS041175,UMLS ID:C1866742 | OMIM ID:183500 | Split-Hand And Split-Foot With Hypodontia | MONDO:0008463 | MeSH ID:C566665 | split-hand and split-foot with hypodontia +BMGC_DS12390,BMG_DS041176,UMLS ID:C1866743 | split lower lip | OMIM ID:183400 | MONDO:0008462 +BMGC_DS12391,BMG_DS041178,UMLS ID:C1866745 | splenogonadal fusion-limb defects-micrognathia syndrome | Splenogonadal fusion limb defects micrognatia | OMIM ID:183300 | MeSH ID:C537318 | MONDO:0008460 +BMGC_DS12392,BMG_DS041179,OMIM ID:183100 | UMLS ID:C1866746 | Spinocerebellar Atrophy With Pupillary Paralysis | MONDO:0008459 | spinocerebellar atrophy with pupillary paralysis | MeSH ID:C566668 +BMGC_DS12393,BMG_DS041181,OMIM ID:183050 | MeSH ID:C566669 | spinocerebellar ataxia with rigidity and peripheral neuropathy | UMLS ID:C1866770 | Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy | MONDO:0008456 +BMGC_DS12394,BMG_DS041182,"OMIM ID:183020 | spinal muscular atrophy, segmental | MONDO:0008455 | UMLS ID:C1866774" +BMGC_DS12395,BMG_DS041184,"UMLS ID:C1866783 | OMIM ID:182970 | MeSH ID:C566674 | MONDO:0008452 | Spinal Muscular Atrophy, Facioscapulohumeral Type | spinal muscular atrophy, facioscapulohumeral type" +BMGC_DS12396,BMG_DS041185,"neuronopathy, distal hereditary motor, autosomal dominant 1 | UMLS ID:C1866784 | Neuronopathy, Distal Hereditary Motor, Type I | autosomal dominant distal hereditary motor neuronopathy 1 | OMIM ID:182960 | MeSH ID:C566675 | DOID:0111200 | MONDO:0008451" +BMGC_DS12397,BMG_DS041186,Spheroid body myopathy (disorder) | MeSH ID:C000598645 | Spheroid body myopathy | SNOMEDCT ID:765092004 | UMLS ID:C1866785 +BMGC_DS12398,BMG_DS041188,"UMLS ID:C1866802 | OMIM ID:182875 | MeSH ID:C566677 | MONDO:0008445 | Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease | delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome" +BMGC_DS12399,BMG_DS041189,MONDO:0054780 | OMIM ID:617948 | elliptocytosis 3 | UMLS ID:C1866810 | OMIM ID:182870 | ELLIPTOCYTOSIS 3 +BMGC_DS12400,BMG_DS041190,"MONDO:0008444 | OMIM ID:182830 | MeSH ID:C566679 | spastic paraplegia, optic atrophy, and dementia | UMLS ID:C1866849 | Spastic Paraplegia, Optic Atrophy, And Dementia" +BMGC_DS12401,BMG_DS041192,Spastic paraplegia neuropathy poikiloderma | OMIM ID:182815 | spastic paraplegia-neuropathy-poikiloderma syndrome | UMLS ID:C1866851 | MeSH ID:C536870 | MONDO:0008442 +BMGC_DS12402,BMG_DS041193,UMLS ID:C1866852 | MONDO:0008441 | spastic paraplegia with associated extrapyramidal signs | MeSH ID:C566681 | Spastic Paraplegia With Associated Extrapyramidal Signs | OMIM ID:182800 +BMGC_DS12403,BMG_DS041194,"MeSH ID:C566682 | Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy | spastic paraplegia-nephritis-deafness syndrome | UMLS ID:C1866853 | OMIM ID:182690 | MONDO:0008440" +BMGC_DS12404,BMG_DS041196,"MONDO:0008438 | hereditary spastic paraplegia 4 | UMLS ID:C1866855 | OMIM ID:182601 | Spastic paraplegia 4, autosomal dominant | MeSH ID:C536865" +BMGC_DS12405,BMG_DS041198,skeletal dysplasia with delayed epiphyseal and carpal bone ossification | MeSH ID:C566687 | OMIM ID:182255 | MONDO:0008430 | UMLS ID:C1866939 | Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification +BMGC_DS12406,BMG_DS041200,"MONDO:0008425 | Shprintzen omphalocele syndrome | omphalocele syndrome, Shprintzen-Goldberg type | OMIM ID:182210 | UMLS ID:C1866958 | MeSH ID:C537329" +BMGC_DS12407,BMG_DS041201,"OMIM ID:182200 | sella turcica, bridged | UMLS ID:C1866959 | MONDO:0008424" +BMGC_DS12408,BMG_DS041202,Sinus Node Disease and Myopia | MONDO:0008423 | UMLS ID:C1866960 | OMIM ID:182190 | sinus node disease and myopia | MeSH ID:C566690 +BMGC_DS12409,BMG_DS041203,Simosa cranio facial syndrome | UMLS ID:C1866962 | MeSH ID:C537339 | flat face-microstomia-ear anomaly syndrome | OMIM ID:182150 | MONDO:0008421 +BMGC_DS12410,BMG_DS041204,"UMLS ID:C1866983 | scleroderma, familial progressive | OMIM ID:181750 | SCLERODERMA, FAMILIAL PROGRESSIVE | MONDO:0008418" +BMGC_DS12411,BMG_DS041206,"MeSH ID:C536638 | UMLS ID:C1866985 | Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) | SNOMEDCT ID:722002002 | MONDO:0010505 | Scholte syndrome | Scholte Begeer-van Essen syndrome | OMIM ID:300977 | Intellectual disability, balding, patella luxation, acromicria syndrome | intellectual disability-balding-patella luxation-acromicria syndrome" +BMGC_DS12412,BMG_DS041208,MONDO:0008411 | DOID:0060614 | Ulnar-mammary syndrome | Schinzel syndrome | ulnar-mammary syndrome | MeSH ID:C536937 | OMIM ID:181450 | SNOMEDCT ID:700211007 | UMLS ID:C1866994 | Ulnar mammary syndrome (disorder) | Ulnar mammary syndrome +BMGC_DS12413,BMG_DS041209,"UMLS ID:C1867005 | Scapuloperoneal Syndrome, Neurogenic, Kaeser Type | MONDO:0008407 | neurogenic scapuloperoneal syndrome Kaeser type | DOID:0111551 | MeSH ID:C566695 | OMIM ID:181400 | neurogenic scapuloperoneal syndrome, Kaeser type" +BMGC_DS12414,BMG_DS041210,OMIM ID:613420 | OMIM ID:181270 | scalp-ear-nipple syndrome | SCALP-EAR-NIPPLE SYNDROME | UMLS ID:C1867020 | MONDO:0008404 | DOID:0111550 +BMGC_DS12415,BMG_DS041211,Scalp defects postaxial polydactyly | MONDO:0008403 | MeSH ID:C536622 | OMIM ID:181250 | UMLS ID:C1867021 | scalp defects-postaxial polydactyly syndrome +BMGC_DS12416,BMG_DS041212,cleft palate-large ears-small head syndrome | OMIM ID:181180 | UMLS ID:C1867023 | MeSH ID:C536621 | Say syndrome | MONDO:0008402 +BMGC_DS12417,BMG_DS041218,Robinow-Sorauf syndrome | Robinow Sorauf syndrome | MONDO:0008391 | UMLS ID:C1867146 | MeSH ID:C537183 | OMIM ID:180750 +BMGC_DS12418,BMG_DS041219,OMIM ID:180730 | UMLS ID:C1867147 | MONDO:0008390 | Rombo syndrome (disorder) | MeSH ID:C535870 | Rombo syndrome | SNOMEDCT ID:721904001 +BMGC_DS12419,BMG_DS041220,DOID:0111548 | OMIM ID:180550 | OMIM ID:601542 | ring dermoid of cornea | MONDO:0008387 | UMLS ID:C1867155 | RING DERMOID OF CORNEA +BMGC_DS12420,BMG_DS041221,rhiny | UMLS ID:C1867222 | OMIM ID:180360 | MONDO:0008385 +BMGC_DS12421,BMG_DS041222,"rhabdomyosarcoma, embryonal, 2 | MONDO:0859046 | OMIM ID:180295 | UMLS ID:C1867234" +BMGC_DS12422,BMG_DS041225,"MONDO:0008381 | UMLS ID:C1867261 | MeSH ID:C566713 | OMIM ID:180210 | dominant pericentral pigmentary retinopathy | Retinopathy, Pericentral Pigmentary, Dominant" +BMGC_DS12423,BMG_DS041226,UMLS ID:C1867299 | retinitis pigmentosa 10 | DOID:0110388 | OMIM ID:180105 | Retinitis Pigmentosa 10 | MeSH ID:C566715 | MONDO:0008379 +BMGC_DS12424,BMG_DS041227,RETINITIS PIGMENTOSA 9 | OMIM ID:180104 | OMIM ID:607331 | retinitis pigmentosa 9 | UMLS ID:C1867300 | MONDO:0008378 +BMGC_DS12425,BMG_DS041229,UMLS ID:C1867326 | RETINAL CONE DYSTROPHY 1 | retinal cone dystrophy type 1 | MONDO:0008374 | OMIM ID:180020 +BMGC_DS12426,BMG_DS041231,MONDO:0009979 | UMLS ID:C1867332 | reticular dystrophy of the retinal pigment epithelium | OMIM ID:179840 | Reticular Dystrophy Of Retinal Pigment Epithelium | MeSH ID:C566721 +BMGC_DS12427,BMG_DS041232,UMLS ID:C1867339 | MONDO:0008367 | MeSH ID:C535298 | red cell phospholipid defect with hemolysis | OMIM ID:179700 | Red cell phospholipid defect with hemolysis +BMGC_DS12428,BMG_DS041234,OMIM ID:179500 | MONDO:0008363 | UMLS ID:C1867393 | raindrop hypopigmentation +BMGC_DS12429,BMG_DS041236,"RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE | MONDO:0008361 | radius, aplasia of, with cleft lip/palate | UMLS ID:C1867395 | OMIM ID:179400" +BMGC_DS12430,BMG_DS041237,RADIAL-RENAL SYNDROME | UMLS ID:C1867396 | OMIM ID:179280 +BMGC_DS12431,BMG_DS041238,"MeSH ID:C536262 | MONDO:0008357 | UMLS ID:C1867397 | Radial hypoplasia, triphalangeal thumbs and hypospadias | radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome | OMIM ID:179250" +BMGC_DS12432,BMG_DS041239,"Radial Heads, Posterior Dislocation Of | UMLS ID:C1867398 | MONDO:0008356 | MeSH ID:C566728 | radial heads, posterior dislocation of | OMIM ID:179200" +BMGC_DS12433,BMG_DS041240,"MONDO:0001560;MONDO:0008355 | Pyloric Stenosis, Hypertrophic | UMLS ID:C1867403 | Infantile Hypertrophic Pyloric Stenosis | hypertrophic pyloric stenosis | MeSH ID:D046248 | OMIM ID:179010 | pyloric stenosis, infantile hypertrophic, 1" +BMGC_DS12434,BMG_DS041241,PULMONIC STENOSIS AND DEAFNESS | OMIM ID:178651 | UMLS ID:C1867406 | MONDO:0008350 | pulmonic stenosis and deafness +BMGC_DS12435,BMG_DS041242,"pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities | MONDO:0008349 | Ciuffo Syndrome | UMLS ID:C1867407 | MeSH ID:C566733 | OMIM ID:178650" +BMGC_DS12436,BMG_DS041244,MONDO:0008342 | OMIM ID:178350 | Pubic Bone Dysplasia | UMLS ID:C1867436 | MeSH ID:C566735 | pubic bone dysplasia +BMGC_DS12437,BMG_DS041245,"ptosis-strabismus-ectopic pupils syndrome | OMIM ID:178330 | MONDO:0008341 | MeSH ID:C566736 | UMLS ID:C1867437 | Ptosis, Strabismus, And Ectopic Pupils" +BMGC_DS12438,BMG_DS041246,"UMLS ID:C1867438 | OMIM ID:178300 | MeSH ID:C566737 | Ptosis, Hereditary Congenital 1 | ptosis, hereditary congenital, 1 | MONDO:0008340" +BMGC_DS12439,BMG_DS041247,"OMIM ID:178200 | antecubital pterygium syndrome | UMLS ID:C1867439 | MeSH ID:C566738 | Pterygium, Antecubital | MONDO:0008339" +BMGC_DS12440,BMG_DS041248,"contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | Distal arthrogryposis type 8 | SNOMEDCT ID:771269000 | OMIM ID:178110 | Autosomal dominant multiple pterygium syndrome | MONDO:0008338 | UMLS ID:C1867440 | Autosomal dominant multiple pterygium syndrome (disorder)" +BMGC_DS12441,BMG_DS041249,"pterygium colli, isolated | MONDO:0008336 | Pterygium Colli, Isolated | UMLS ID:C1867442 | MeSH ID:C566741 | OMIM ID:177990" +BMGC_DS12442,BMG_DS041250,Haspeslagh Fryns Muelenaere syndrome | MONDO:0008335 | MeSH ID:C535844 | SNOMEDCT ID:716090004 | short stature-craniofacial anomalies-genital hypoplasia syndrome | Short stature with craniofacial anomalies and genital hypoplasia syndrome | UMLS ID:C1867443 | OMIM ID:177980 | Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) +BMGC_DS12443,BMG_DS041251,"UMLS ID:C1867449 | psoriasis 1, susceptibility to | OMIM ID:177900 | MONDO:0008334" +BMGC_DS12444,BMG_DS041252,"Pseudoxanthoma Elasticum, Incomplete | pseudoxanthoma elasticum, forme fruste | Pseudoxanthoma Elasticum | MeSH ID:D011561 | MONDO:0008333 | UMLS ID:C1867450 | OMIM ID:177850" +BMGC_DS12445,BMG_DS041256,"Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type | MeSH ID:C566751 | UMLS ID:C1867469" +BMGC_DS12446,BMG_DS041259,"pruritus, hereditary localized | MONDO:0008321 | OMIM ID:177100 | Pruritus, Hereditary Localized | UMLS ID:C1867499 | MeSH ID:C566754" +BMGC_DS12447,BMG_DS041262,UMLS ID:C1867616 | benign neoplasm of eye | MONDO:0021454 +BMGC_DS12448,BMG_DS041265,SNOMEDCT ID:1293192009 | PCAD - premature coronary artery disease | Premature coronary artery disease | UMLS ID:C1867743 | Premature coronary artery disease (disorder) +BMGC_DS12449,BMG_DS041266,MeSH ID:C566759 | Primary Release Disorder Of Platelets | OMIM ID:176630 | MONDO:0008309 | UMLS ID:C1867770 | primary release disorder of platelets +BMGC_DS12450,BMG_DS041268,"MeSH ID:C535273 | OMIM ID:176600 | Presenile dementia, Kraepelin type | MONDO:0008307 | presenile dementia, Kraepelin type | UMLS ID:C1867772" +BMGC_DS12451,BMG_DS041271,"MeSH ID:C538278 | Guttmacher syndrome | MONDO:0008301 | DOID:0111544 | Preaxial deficiency, postaxial polydactyly and hypospadias | OMIM ID:176305 | UMLS ID:C1867801" +BMGC_DS12452,BMG_DS041273,OMIM ID:613695 | long QT syndrome 5 | OMIM ID:176261 | LONG QT SYNDROME 5 | MONDO:0013372 | UMLS ID:C1867904 +BMGC_DS12453,BMG_DS041274,OMIM ID:176250 | MONDO:0008299 | UMLS ID:C1867923 | posterior column ataxia | MeSH ID:C536342 | Posterior column ataxia +BMGC_DS12454,BMG_DS041275,UMLS ID:C1867924 | postaxial tetramelic oligodactyly | OMIM ID:176240 | MONDO:0008298 +BMGC_DS12455,BMG_DS041276,"OMIM ID:176090 | MeSH ID:C566768 | Porphyria Cutanea Tarda, Type I | sporadic porphyria cutanea tarda | UMLS ID:C1867968 | MONDO:0008295" +BMGC_DS12456,BMG_DS041277,"MeSH ID:C566769 | UMLS ID:C1867969 | Porphyria, Acute Intermittent, Nonerythroid Variant" +BMGC_DS12457,BMG_DS041278,"OMIM ID:175900 | UMLS ID:C1867981 | MONDO:0008293 | POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 | porokeratosis 3, disseminated superficial actinic type" +BMGC_DS12458,BMG_DS041279,OMIM ID:175860 | punctate palmoplantar keratoderma type 2 | UMLS ID:C1867982 | MONDO:0008292 +BMGC_DS12459,BMG_DS041280,porencephaly | Familial porencephaly | DOID:0060263 | MONDO:0020496 | Familial porencephalic cyst | familial porencephaly | UMLS ID:C1867983 | Familial porencephaly (disorder) | SNOMEDCT ID:1162864000 +BMGC_DS12460,BMG_DS041283,MONDO:0008284 | polyposis of gastric fundus without polyposis coli | OMIM ID:175505 | UMLS ID:C1868001 +BMGC_DS12461,BMG_DS041284,"MONDO:0008282 | polyposis, intestinal, with multiple exostoses | UMLS ID:C1868005 | OMIM ID:175450" +BMGC_DS12462,BMG_DS041285,"OMIM ID:175400 | UMLS ID:C1868006 | MONDO:0008281 | polyposis, intestinal, scattered and discrete" +BMGC_DS12463,BMG_DS041288,generalized juvenile polyposis/juvenile polyposis coli | UMLS ID:C1868081 | Juvenile Polyposis Coli | MeSH ID:C537702 | MONDO:0008276 | DOID:0050787 | juvenile polyposis syndrome +BMGC_DS12464,BMG_DS041290,MONDO:0008272 | polysyndactyly 4 | UMLS ID:C1868111 | OMIM ID:174700 +BMGC_DS12465,BMG_DS041292,"polydactyly of an index finger | Polydactyly, Preaxial III | MONDO:0008271 | MeSH ID:C566784 | OMIM ID:174600 | UMLS ID:C1868113" +BMGC_DS12466,BMG_DS041293,UMLS ID:C1868114 | polydactyly of a triphalangeal thumb | OMIM ID:174500 | MONDO:0008270 +BMGC_DS12467,BMG_DS041294,"OMIM ID:174310 | UMLS ID:C1868117 | polydactyly-myopia syndrome | MONDO:0008268 | POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA" +BMGC_DS12468,BMG_DS041295,MONDO:0008267 | DOID:0060375 | orofaciodigital syndrome V | MeSH ID:C557819 | Orofaciodigital syndrome 5 | OMIM ID:174300 | UMLS ID:C1868118 +BMGC_DS12469,BMG_DS041296,MONDO:0019674 | UMLS ID:C1868120 | postaxial polydactyly type B +BMGC_DS12470,BMG_DS041297,"Autosomal dominant medullary cystic kidney disease without hyperuricemia | Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) | tubulointerstitial kidney disease, autosomal dominant, 2 | Autosomal dominant medullary cystic kidney disease without hyperuricaemia | MUC1-related autosomal dominant tubulointerstitial kidney disease | OMIM ID:174000 | SNOMEDCT ID:726017001 | Medullary cystic kidney disease 1 | UMLS ID:C1868139 | Mucin 1 related autosomal dominant tubulointerstitial kidney disease | MONDO:0020726 | MeSH ID:C536137" +BMGC_DS12471,BMG_DS041300,"familial spontaneous pneumothorax | PNEUMOTHORAX, PRIMARY SPONTANEOUS | UMLS ID:C1868193 | MONDO:0008259 | OMIM ID:607273 | OMIM ID:173600 | primary spontaneous pneumothorax | DOID:0080218" +BMGC_DS12472,BMG_DS041301,MeSH ID:C566796 | platelet signal processing defect | OMIM ID:173590 | MONDO:0008258 | UMLS ID:C1868199 | Platelet Signal Processing Defect +BMGC_DS12473,BMG_DS041305,MONDO:0008255 | UMLS ID:C1868256 | MeSH ID:C566798 | Platelet Factor 3 Deficiency | OMIM ID:173450 | platelet factor 3 deficiency +BMGC_DS12474,BMG_DS041306,"platelet disorder, undefined | MONDO:0008254 | UMLS ID:C1868258 | OMIM ID:173420 | MeSH ID:C566799 | Platelet Disorder, Undefined" +BMGC_DS12475,BMG_DS041309,MeSH ID:C535688 | Robin sequence-oligodactyly syndrome | OMIM ID:172880 | UMLS ID:C1868309 | Robin sequence and oligodactyly | MONDO:0008247 +BMGC_DS12476,BMG_DS041310,pigmented paravenous retinochoroidal atrophy | UMLS ID:C1868310 | Pigmented Paravenous Chorioretinal Atrophy | MeSH ID:C566801 | DOID:0111541 | OMIM ID:172870 | pigmented paravenous chorioretinal atrophy | MONDO:0008246 +BMGC_DS12477,BMG_DS041311,Telfer Sugar Jaeger syndrome | MONDO:0008245 | MeSH ID:C536955 | UMLS ID:C1868311 | Piebald trait with neurologic defects syndrome (disorder) | Piebald trait with neurologic defects syndrome | piebald trait-neurologic defects syndrome | SNOMEDCT ID:773984007 | OMIM ID:172850 +BMGC_DS12478,BMG_DS041313,6-Phosphogluconolactonase Deficiency | UMLS ID:C1868355 | 6-phosphogluconolactonase deficiency | OMIM ID:172150 | MeSH ID:C566803 | MONDO:0008240 +BMGC_DS12479,BMG_DS041316,Phlebectasia Of Lips | MeSH ID:C566806 | phlebectasia of lips | OMIM ID:171450 | UMLS ID:C1868391 | MONDO:0008236 +BMGC_DS12480,BMG_DS041317,pheochromocytoma-islet cell tumor syndrome | OMIM ID:171420 | MONDO:0008235 | UMLS ID:C1868392 +BMGC_DS12481,BMG_DS041320,"MeSH ID:C536001 | OMIM ID:170980 | MONDO:0008229 | Accessory deep peroneal nerve | UMLS ID:C1868426 | peroneal nerve, accessory deep" +BMGC_DS12482,BMG_DS041321,"UMLS ID:C1868433 | MeSH ID:C566809 | Normokalemic Periodic Paralysis, Potassium-Sensitive" +BMGC_DS12483,BMG_DS041325,MONDO:0008217 | Pelvis-Shoulder Dysplasia | MeSH ID:C566811 | UMLS ID:C1868508 | pelvis-shoulder dysplasia | OMIM ID:169550 +BMGC_DS12484,BMG_DS041326,Pelvic Lipomatosis with Crossed Renal Ectopia | OMIM ID:169545 | MeSH ID:C566812 | UMLS ID:C1868511 | MONDO:0008216 | pelvic lipomatosis with crossed renal ectopia +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,OMIM ID:169200 | MeSH ID:C566814 | MONDO:0008212 | UMLS ID:C1868545 | Pechet Factor Deficiency | Pechet factor deficiency +BMGC_DS12487,BMG_DS041330,Patterned dystrophy of retinal pigment epithelium | MONDO:0018973 | patterned dystrophy of the retinal pigment epithelium | UMLS ID:C1868569 | MeSH ID:C536309 +BMGC_DS12488,BMG_DS041331,CHAR SYNDROME | UMLS ID:C1868570 | OMIM ID:169100 | OMIM ID:601601 | Char syndrome | MONDO:0008209 +BMGC_DS12489,BMG_DS041333,"UMLS ID:C1868576 | OMIM ID:168885 | benign paroxysmal tonic upgaze of childhood with ataxia | Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia | MONDO:0008206 | MeSH ID:C566817" +BMGC_DS12490,BMG_DS041334,UMLS ID:C1868577 | patella aplasia/hypoplasia | OMIM ID:168860 | MONDO:0008205 +BMGC_DS12491,BMG_DS041335," | OMIM ID:168850 | ischiocoxopodopatellar syndrome | DOID:0111382 | Patella aplasia, coxa vara, tarsal synostosis | obsolete patella aplasia, coxa vara, and tarsal synostosis | MeSH ID:C536307 | MONDO:0008204 | UMLS ID:C1868581" +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,MONDO:0008201 | Perry syndrome | DOID:0060486 | OMIM ID:168605 | UMLS ID:C1868594 | MeSH ID:C566822 | Perry Syndrome +BMGC_DS12494,BMG_DS041338,"PARKINSON DISEASE 1, AUTOSOMAL DOMINANT | MONDO:0008200 | autosomal dominant Parkinson disease 1 | OMIM ID:163890 | OMIM ID:168601 | DOID:0060367 | Parkinson's disease 1 | UMLS ID:C1868595" +BMGC_DS12495,BMG_DS041340,UMLS ID:C1868597 | parietal foramina with cleidocranial dysplasia | OMIM ID:168550 | Parietal Foramina With Cleidocranial Dysplasia | MONDO:0008198 | MeSH ID:C566825 +BMGC_DS12496,BMG_DS041341,UMLS ID:C1868598 | parietal foramina | DOID:0060285 +BMGC_DS12497,BMG_DS041342,UMLS ID:C1868599 | OMIM ID:168500 | parietal foramina 1 | MONDO:0008197 +BMGC_DS12498,BMG_DS041343,OMIM ID:168400 | MONDO:0008196 | DOID:0111539 | UMLS ID:C1868616 | parastremmatic dwarfism +BMGC_DS12499,BMG_DS041344,UMLS ID:C1868619 | Myotonic Disorders | MeSH ID:D020967 | Paramyotonia Congenita Without Cold Paralysis +BMGC_DS12500,BMG_DS041345,UMLS ID:C1868633 | Paragangliomas with Sensorineural Hearing Loss | MeSH ID:C566831 +BMGC_DS12501,BMG_DS041346,"OMIM ID:167950 | papillomatosis, florid, of nipple | UMLS ID:C1868647 | MONDO:0008189" +BMGC_DS12502,BMG_DS041347,OMIM ID:167870 | MONDO:0008187 | UMLS ID:C1868649 | panic disorder 1 +BMGC_DS12503,BMG_DS041353,OMIM ID:167730 | UMLS ID:C1868660 | SNOMEDCT ID:723411003 | MeSH ID:C538338 | nasopalpebral lipoma-coloboma syndrome | Nasopalpebral lipoma coloboma syndrome (disorder) | MONDO:0008182 | Nasopalpebral lipoma coloboma syndrome +BMGC_DS12504,BMG_DS041354,"OMIM ID:167600 | palmaris longus muscle, absence of | MONDO:0008181 | UMLS ID:C1868661" +BMGC_DS12505,BMG_DS041355,"nephrotic syndrome, type 2 | OMIM ID:600995 | MONDO:0010974 | UMLS ID:C1868672 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE | nephrotic syndrome type 2 | DOID:0080379" +BMGC_DS12506,BMG_DS041356,"Parkinson's disease 2 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | DOID:0060368 | MONDO:0010820 | UMLS ID:C1868675 | OMIM ID:602544 | autosomal recessive juvenile Parkinson disease 2 | OMIM ID:600116" +BMGC_DS12507,BMG_DS041357,OMIM ID:132100 | UMLS ID:C1868677 | PHOTOPAROXYSMAL RESPONSE 1 | MONDO:0007559 | photoparoxysmal response 1 +BMGC_DS12508,BMG_DS041358,"MONDO:0008546 | Thanatophoric Dysplasia, Type I | UMLS ID:C1868678 | OMIM ID:270230 | MeSH ID:C566844 | thanatophoric dysplasia type 1 | OMIM ID:187600" +BMGC_DS12509,BMG_DS041359,"OMIM ID:603868 | OMIM ID:607624 | MONDO:0011872 | UMLS ID:C1868679 | Griscelli syndrome type 2 | GRISCELLI SYNDROME, TYPE 2 | DOID:0060833" +BMGC_DS12510,BMG_DS041360,OMIM ID:128235 | UMLS ID:C1868681 | DYSTONIA 12 | dystonia 12 | OMIM ID:182350 | MONDO:0007496 +BMGC_DS12511,BMG_DS041361,Paroxysmal dyskinesia | MeSH ID:C537180 | Paroxysmal kinesigenic choreoathetosis | episodic kinesigenic dyskinesia | SNOMEDCT ID:51938001 | UMLS ID:C1868682 | SNOMEDCT ID:609221008 | Paroxysmal choreoathetosis (disorder) | MONDO:0044202 | SNOMEDCT ID:49949003 | OMIM ID:MTHU070263 | Paroxysmal kinesigenic choreoathetosis (disorder) | Paroxysmal choreoathetosis | Paroxysmal kinesigenic dyskinesia (disorder) | Paroxysmal kinesigenic dyskinesia +BMGC_DS12512,BMG_DS041362,"UMLS ID:C1868683 | leukemia, chronic lymphocytic, susceptibility to, 2 | OMIM ID:109543 | MONDO:0007190" +BMGC_DS12513,BMG_DS041363,"UMLS ID:C1868684 | OMIM ID:224690 | Meier-Gorlin syndrome | Meier-Gorlin syndrome 1 | DOID:0060306;DOID:0080512 | EAR, PATELLA, SHORT STATURE SYNDROME | MONDO:0016817" +BMGC_DS12514,BMG_DS041364,"multiple sclerosis, susceptibility to | MONDO:0007462 | UMLS ID:C1868685" +BMGC_DS12515,BMG_DS041365,UMLS ID:C1868705 | Shone complex (disorder) | shone complex | Shone complex | MONDO:0020404 | Shone syndrome | SNOMEDCT ID:41371000119100 +BMGC_DS12516,BMG_DS041368,Periventricular Nodular Heterotopia | DOID:0050454 | periventricular nodular heterotopia | UMLS ID:C1868720 | MONDO:0020341 | MeSH ID:D054091 +BMGC_DS12517,BMG_DS041371,diabetic encephalopathy | UMLS ID:C1868773 | MeSH ID:C000721848 | MONDO:0000489 +BMGC_DS12518,BMG_DS041374,UMLS ID:C1868854 | penoscrotal transposition | MONDO:0017285 +BMGC_DS12519,BMG_DS041375,SNOMEDCT ID:440630006 | UMLS ID:C1868889 | Irritable bowel syndrome characterized by constipation | Constipation predominant irritable bowel syndrome | Irritable bowel syndrome characterized by constipation (disorder) | Irritable bowel syndrome characterised by constipation +BMGC_DS12520,BMG_DS041378,"DOID:0050475 | Weill-Marchesani Syndrome | Weill-Marchesani syndrome | MeSH ID:D056846 | Weill-Marchesani Syndrome, Autosomal Recessive | UMLS ID:C1869114" +BMGC_DS12521,BMG_DS041379,"DOID:0050475 | Weill-Marchesani Syndrome | UMLS ID:C1869115 | Weill-Marchesani syndrome | MONDO:0012013 | MeSH ID:D056846 | OMIM ID:608328 | Weill-Marchesani Syndrome, Autosomal Dominant | Weill-Marchesani syndrome 2, dominant" +BMGC_DS12522,BMG_DS041380,MONDO:0010940 | OMIM ID:600807 | UMLS ID:C1869116 | inherited susceptibility to asthma +BMGC_DS12523,BMG_DS041381,paroxysmal nonkinesigenic dyskinesia | UMLS ID:C1869117 | SNOMEDCT ID:609218006 | Paroxysmal nonkinesigenic dyskinesia | Paroxysmal nonkinesigenic dyskinesia (disorder) | Mount-Reback syndrome | Paroxysmal dystonic choreoathetosis | OMIM ID:MTHU000808 | Familial paroxysmal choreoathetosis | MONDO:0700088 +BMGC_DS12524,BMG_DS041382,"OMIM ID:218700 | hypothyroidism, congenital, nongoitrous, 2 | UMLS ID:C1869118 | MONDO:0024264" +BMGC_DS12525,BMG_DS041383,Ehlers-Danlos syndrome spondylodysplastic type 2 | DOID:0050802 | UMLS ID:C1869122 +BMGC_DS12526,BMG_DS041384,Limb-girdle muscular dystrophy type 2A | MeSH ID:C535895 | OMIM ID:253600 | autosomal recessive limb-girdle muscular dystrophy type 2A | MONDO:0009675 | UMLS ID:C1869123 +BMGC_DS12527,BMG_DS041385,"CEROID LIPOFUSCINOSIS, NEURONAL, 2 | OMIM ID:607998 | UMLS ID:C1876161 | MONDO:0008769 | OMIM ID:204500 | neuronal ceroid lipofuscinosis 2" +BMGC_DS12528,BMG_DS041387,MeSH ID:C566858 | Copper-Overload Cirrhosis | UMLS ID:C1876165 +BMGC_DS12529,BMG_DS041392,"MONDO:0800415 | UMLS ID:C1876174 | asthma, aspirin-induced, susceptibility to" +BMGC_DS12530,BMG_DS041393,Ataxia-Telangiectasia Variant | UMLS ID:C1876175 | MeSH ID:C566865 | MONDO:0018266 | ataxia - telangiectasia variant +BMGC_DS12531,BMG_DS041395,"restless legs syndrome, susceptibility to, 1 | MONDO:0007053 | OMIM ID:102300 | UMLS ID:C1876177" +BMGC_DS12532,BMG_DS041396,"OMIM ID:108000 | arteries, anomalies of | UMLS ID:C1876179 | MONDO:0007153" +BMGC_DS12533,BMG_DS041397,"OMIM ID:133705 | MONDO:0007587 | external auditory canal atresia-vertical talus-hypertelorism syndrome | UMLS ID:C1876181 | EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS" +BMGC_DS12534,BMG_DS041398,"UMLS ID:C1876182 | DOID:0110863 | OMIM ID:180072 | MONDO:0008099 | OMIM ID:163500 | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 | congenital stationary night blindness autosomal dominant 2" +BMGC_DS12535,BMG_DS041399,calcaneonavicular coalition | MONDO:0008518 | UMLS ID:C1876184 | OMIM ID:186400 +BMGC_DS12536,BMG_DS041400,UMLS ID:C1876185 | MeSH ID:C537996 | Dysgnathia complex +BMGC_DS12537,BMG_DS041401,"UMLS ID:C1876187 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | OMIM ID:211900 | familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome | MONDO:0100251" +BMGC_DS12538,BMG_DS041402,MONDO:0016643 | frontonasal dysplasia | UMLS ID:C1876203 +BMGC_DS12539,BMG_DS041404,"OMIM ID:113900 | Hereditary bundle branch system defect | UMLS ID:C1879286 | MeSH ID:C566873 | MONDO:0007240 | progressive familial heart block, type 1A" +BMGC_DS12540,BMG_DS041405,acute myeloblastic leukemia with maturation | acute myeloid leukemia with maturation | DOID:0081087 | MONDO:0020320 | UMLS ID:C1879321 +BMGC_DS12541,BMG_DS041408,SNOMEDCT ID:56595005 | Tyrosinemia (disorder) | SNOMEDCT ID:190694001 | Elevated tyrosine blood level | Hypertyrosinemia | Hypertyrosinemia (disorder) | ICD10 ID:E70.21 | UMLS ID:C1879362 | Tyrosinemia | Tyrosinaemia | Hypertyrosinaemia +BMGC_DS12542,BMG_DS041414,SNOMEDCT ID:425582007 | UMLS ID:C1881170 | Inappropriate sinus tachycardia | Inappropriate sinus tachycardia (disorder) +BMGC_DS12543,BMG_DS041421,MONDO:0006003 | UMLS ID:C1883486 | uterine corpus cancer +BMGC_DS12544,BMG_DS041431,Human Herpesvirus 6 encephalitis | HHV-6 encephalitis | MONDO:0027029 | MeSH ID:C538117 | UMLS ID:C1955629 +BMGC_DS12545,BMG_DS041434,OMIM ID:MTHU059312 | Glucocorticoid deficiency | UMLS ID:C1955741 +BMGC_DS12546,BMG_DS041445,UMLS ID:C1955861 | T-cell large granular lymphocyte leukemia | MONDO:0019469 +BMGC_DS12547,BMG_DS041446,MeSH ID:D054220 | UMLS ID:C1955869 | Malformations of Cortical Development +BMGC_DS12548,BMG_DS041447,UMLS ID:C1955870 | chromosome 17p13.1 deletion syndrome | MeSH ID:D054221 | Classical Lissencephalies and Subcortical Band Heterotopias | DOID:0060402 +BMGC_DS12549,BMG_DS041449,MONDO:0018053 | UMLS ID:C1955934 | trichothiodystrophy | nonphotosensitive trichothiodystrophy 5 | MeSH ID:D054463 | DOID:0111868;DOID:0111866;DOID:2960 | photosensitive trichothiodystrophy | Trichothiodystrophy Syndromes +BMGC_DS12550,BMG_DS041451,Jacobsen Distal 11q Deletion Syndrome | MeSH ID:D054868 | Jacobsen Syndrome | UMLS ID:C1956093 | DOID:0111723 | OMIM ID:188025 | MONDO:0008557 | Paris-Trousseau thrombocytopenia | Paris-Trousseau Thrombocytopenia +BMGC_DS12551,BMG_DS041452,Wolf-Hirschhorn syndrome | OMIM ID:194190 | UMLS ID:C1956097 | DOID:0050460 | MeSH ID:D054877 | MONDO:0008684 | Wolf-Hirschhorn Syndrome +BMGC_DS12552,BMG_DS041453,Alagille Syndrome 1 | MONDO:0016862 | Alagille Syndrome | MeSH ID:D016738 | Alagille syndrome due to a JAG1 point mutation | UMLS ID:C1956125 | OMIM ID:118450 +BMGC_DS12553,BMG_DS041454,microlissencephaly | MONDO:0015204 | UMLS ID:C1956147 +BMGC_DS12554,BMG_DS041456,"Hematoma, Basal Ganglia | MeSH ID:D020145 | UMLS ID:C1956233 | Basal Ganglia Hemorrhage" +BMGC_DS12555,BMG_DS041459,valvar pulmonary stenosis | Pulmonary Valve Stenosis | MONDO:0020395;MONDO:0009938 | pulmonic stenosis | UMLS ID:C1956257 | MeSH ID:D011666 | Pulmonary Stenosis | OMIM ID:265500 +BMGC_DS12556,BMG_DS041460,"MeSH ID:D011697 | Familial Thrombotic Thrombocytopenic Purpura | UMLS ID:C1956258 | Purpura, Thrombotic Thrombocytopenic" +BMGC_DS12557,BMG_DS041461,coronary artery disorder | MeSH ID:D003324 | MONDO:0005010 | UMLS ID:C1956346 | Coronary Artery Disease +BMGC_DS12558,BMG_DS041462,"MeSH ID:D028243 | DOID:9246 | UMLS ID:C1956349 | Cerebral Amyloid Angiopathy, Genetic | Cerebral Amyloid Angiopathy, Familial | cerebral amyloid angiopathy" +BMGC_DS12559,BMG_DS041464,Cranial Arteritis | Giant Cell Arteritis | UMLS ID:C1956390 | MeSH ID:D013700 +BMGC_DS12560,BMG_DS041465,Temporal Arteritis | Giant Cell Arteritis | temporal arteritis | UMLS ID:C1956391 | MeSH ID:D013700 | MONDO:0008538 | OMIM ID:187360 +BMGC_DS12561,BMG_DS041469,"Double Outlet Right Ventricle, Subaortic VSD | MeSH ID:D004310 | UMLS ID:C1956411 | Double Outlet Right Ventricle" +BMGC_DS12562,BMG_DS041473,"DOID:0050657 | UMLS ID:C1959582 | PTEN hamartoma tumor syndrome | MONDO:0017623 | Bannayan-Riley-Ruvalcaba syndrome | MeSH ID:D006223 | PTEN Hamartoma Tumor Syndrome | Hamartoma Syndrome, Multiple" +BMGC_DS12563,BMG_DS041474,Heart Failure | Myocardial Failure | MeSH ID:D006333 | UMLS ID:C1959583 +BMGC_DS12564,BMG_DS041478,UMLS ID:C1959620 | MONDO:0010130 | dihydropyrimidine dehydrogenase deficiency | Dihydropyrimidine Dehydrogenase Deficiency | MeSH ID:D054067 | DOID:14218 | OMIM ID:274270 +BMGC_DS12565,BMG_DS041479,UMLS ID:C1959626 | MeSH ID:D054078 | DOID:0050452 | Mevalonate Kinase Deficiency | mevalonic aciduria | MONDO:0012481 | OMIM ID:610377 | Mevalonic Aciduria +BMGC_DS12566,BMG_DS041484,Calcium renal calculus (disorder) | UMLS ID:C1959799 | Calcium renal calculus | SNOMEDCT ID:427649000 +BMGC_DS12567,BMG_DS041499,Aphthous ulceration of skin and/or mucous membrane | Aphthosis | Aphthous ulceration | Aphthous ulcer | SNOMEDCT ID:427617000 | Aphthous ulceration of skin and/or mucous membrane (disorder) | UMLS ID:C1959869 +BMGC_DS12568,BMG_DS041545,MONDO:0006244 | UMLS ID:C1960398 | HER2 positive breast carcinoma +BMGC_DS12569,BMG_DS041558,hereditary angioedema with normal C1Inh | Hereditary angio-oedema with normal C1 esterase inhibitor activity | Hereditary angioedema - type 3 | Hereditary angioedema with normal C1 esterase inhibitor activity | MONDO:0100567 | Hereditary angioneurotic edema with normal C1 esterase inhibitor activity | Hereditary angioneurotic oedema with normal C1 esterase inhibitor activity | SNOMEDCT ID:427167008 | UMLS ID:C1960459 | Hereditary angioedema with normal C1 esterase inhibitor activity (disorder) +BMGC_DS12570,BMG_DS041561,UMLS ID:C1960469 | OMIM ID:MTHU038630 | Left ventricular noncompaction | left ventricular noncompaction | MONDO:0018901 | Left ventricular noncompaction (disorder) | SNOMEDCT ID:427608000 +BMGC_DS12571,BMG_DS041572,MeSH ID:C537436 | UMLS ID:C1960539 | OMIM ID:613546 | Aromatase deficiency | MONDO:0013301 | aromatase deficiency +BMGC_DS12572,BMG_DS041593,UMLS ID:C1960675 | SNOMEDCT ID:426387005 | Long-chain fatty acid transport deficiency (disorder) | Long-chain fatty acid transport deficiency +BMGC_DS12573,BMG_DS041602,Crohn's disease in remission (disorder) | SNOMEDCT ID:426549001 | UMLS ID:C1960764 | Crohn's disease in remission | Crohn disease in remission +BMGC_DS12574,BMG_DS041621,UMLS ID:C1960924 | Right-sided Staphylococcus aureus endocarditis | Right-sided Staphylococcus aureus endocarditis (disorder) | 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 | OMIM ID:230800 | Gaucher disease type I | MONDO:0009265 | Gaucher Disease | UMLS ID:C1961835 | MeSH ID:D005776" +BMGC_DS12577,BMG_DS041641,spinocerebellar ataxia type 10 | UMLS ID:C1963674 | OMIM ID:603516 | Spinocerebellar Ataxia 10 | MONDO:0011330 | MeSH ID:C566874 +BMGC_DS12578,BMG_DS041652,"severe congenital encephalopathy due to MECP2 mutation | DOID:0111932 | OMIM ID:300673 | UMLS ID:C1968556 | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | severe neonatal-onset encephalopathy with microcephaly | MONDO:0010397" +BMGC_DS12579,BMG_DS041653,"UMLS ID:C1968561 | MONDO:0800314 | xeroderma pigmentosum, type G/Cockayne syndrome | MeSH ID:C566879 | Xeroderma Pigmentosum, Type G-Cockayne Syndrome" +BMGC_DS12580,BMG_DS041654,MeSH ID:C566881 | Respiratory Distress Syndrome In Premature Infants | MONDO:0009971 | UMLS ID:C1968593 | OMIM ID:267450 | respiratory distress syndrome in premature infants +BMGC_DS12581,BMG_DS041655,"surfactant metabolism dysfunction, pulmonary, 1 | Surfactant Metabolism Dysfunction, Pulmonary, 1 | OMIM ID:265120 | MONDO:0009929 | MeSH ID:C566882 | UMLS ID:C1968602" +BMGC_DS12582,BMG_DS041656,"MeSH ID:C566883 | OMIM ID:259720 | MONDO:0009817 | Osteopetrosis, Autosomal Recessive 5 | autosomal recessive osteopetrosis 5 | UMLS ID:C1968603" +BMGC_DS12583,BMG_DS041657,"OMIM ID:251700 | MONDO:0009632 | MeSH ID:C566884 | microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies | Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies | UMLS ID:C1968637" +BMGC_DS12584,BMG_DS041658,"OMIM ID:246300 | UMLS ID:C1968668 | leprosy, susceptibility to, 3 | MONDO:0009518" +BMGC_DS12585,BMG_DS041659,DOID:3261 | UMLS ID:C1968689 | hyper IgE recurrent infection syndrome 1 +BMGC_DS12586,BMG_DS041661,MeSH ID:C566889 | UMLS ID:C1968739 | Glycogen Storage Disease IIIA +BMGC_DS12587,BMG_DS041662,MeSH ID:C566890 | UMLS ID:C1968740 | Glycogen Storage Disease IIIB +BMGC_DS12588,BMG_DS041663,Glycogen Storage Disease IIIC | UMLS ID:C1968741 | MeSH ID:C566891 +BMGC_DS12589,BMG_DS041666,"MeSH ID:C566895 | Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement | UMLS ID:C1968748" +BMGC_DS12590,BMG_DS041668,"UMLS ID:C1968782 | MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES | MONDO:0800299 | OMIM ID:190020 | myopathy, congenital, with excess of muscle spindles | OMIM ID:218040" +BMGC_DS12591,BMG_DS041669,"MONDO:0009009 | MeSH ID:C566897 | UMLS ID:C1968804 | DOID:0111592 | Plasminogen Deficiency, Type I | hypoplasminogenemia | OMIM ID:217090 | plasminogen deficiency type I" +BMGC_DS12592,BMG_DS041672,"microphthalmia, isolated, with coloboma 5 | MeSH ID:C566899 | MONDO:0012709 | UMLS ID:C1968843 | OMIM ID:611638 | Microphthalmia, Isolated, with Coloboma 5" +BMGC_DS12593,BMG_DS041673,"OMIM ID:611637 | UMLS ID:C1968845 | MONDO:0012708 | MeSH ID:C566900 | Primary Lateral Sclerosis, Adult, 1 | primary lateral sclerosis, adult, 1" +BMGC_DS12594,BMG_DS041674,"MONDO:0012707 | UMLS ID:C1968846 | Febrile Convulsions, Familial, 9 | OMIM ID:611634 | familial febrile seizures 9 | MeSH ID:C566901" +BMGC_DS12595,BMG_DS041675,"Epilepsy, Familial Temporal Lobe, 4 | MONDO:0012706 | MeSH ID:C566902 | familial temporal lobe epilepsy 4 | OMIM ID:611631 | UMLS ID:C1968847" +BMGC_DS12596,BMG_DS041676,"familial temporal lobe epilepsy 3 | MeSH ID:C566903 | Epilepsy, Familial Mesial Temporal Lobe | OMIM ID:611630 | UMLS ID:C1968848 | MONDO:0012705" +BMGC_DS12597,BMG_DS041677,"MONDO:0012486 | UMLS ID:C1968893 | Preauricular Tag, Isolated, Autosomal Dominant, 1 | OMIM ID:610420 | preauricular tag, isolated, autosomal dominant, 1 | MeSH ID:C566904" +BMGC_DS12598,BMG_DS041678,"MONDO:0800416 | UMLS ID:C1968924 | autism, susceptibility to, 1" +BMGC_DS12599,BMG_DS041679,congenital anomaly of kidney and urinary tract | MONDO:0019719 | UMLS ID:C1968949 +BMGC_DS12600,BMG_DS041680,"UMLS ID:C1969024 | CARDIOMYOPATHY, DILATED, 1X | dilated cardiomyopathy 1X | OMIM ID:607440 | MONDO:0012704 | OMIM ID:611615" +BMGC_DS12601,BMG_DS041681,lissencephaly type 3 | MONDO:0015148 | MeSH ID:C566908 | lissencephaly 3 | Lissencephaly 3 | DOID:0112232 | UMLS ID:C1969029 +BMGC_DS12602,BMG_DS041684,"Cataract, Autosomal Dominant, Multiple Types 1 | MeSH ID:C566909 | UMLS ID:C1969032" +BMGC_DS12603,BMG_DS041685,"MeSH ID:C566910 | Renal Tubular Acidosis, Distal, With Hemolytic Anemia | UMLS ID:C1969038" +BMGC_DS12604,BMG_DS041686,"Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology | MeSH ID:C566911 | UMLS ID:C1969039" +BMGC_DS12605,BMG_DS041687,"autosomal recessive limb-girdle muscular dystrophy type 2M | UMLS ID:C1969040 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | OMIM ID:611588 | MONDO:0012699" +BMGC_DS12606,BMG_DS041688,MONDO:0012697 | OTOSCLEROSIS 7 | UMLS ID:C1969044 | otosclerosis 7 | OMIM ID:611572 | DOID:0060925 +BMGC_DS12607,BMG_DS041689,otosclerosis 4 | UMLS ID:C1969046 | DOID:0060923 | OTOSCLEROSIS 4 | OMIM ID:611571 | MONDO:0012696 +BMGC_DS12608,BMG_DS041690,"MONDO:0012695 | OMIM ID:610937 | MECKEL SYNDROME, TYPE 5 | OMIM ID:611561 | UMLS ID:C1969052 | Meckel syndrome, type 5" +BMGC_DS12609,BMG_DS041691,OMIM ID:610937 | Joubert syndrome 7 | MONDO:0012694 | UMLS ID:C1969053 | OMIM ID:611560 | JOUBERT SYNDROME 7 +BMGC_DS12610,BMG_DS041692,"UMLS ID:C1969054 | Glycogen Storage Disease 0, Muscle | OMIM ID:611556 | glycogen storage disease due to muscle and heart glycogen synthase deficiency | MeSH ID:C566917 | MONDO:0012693" +BMGC_DS12611,BMG_DS041693,"MONDO:0012692 | UMLS ID:C1969055 | renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies | Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies | OMIM ID:611555 | MeSH ID:C566918" +BMGC_DS12612,BMG_DS041694,LEOPARD syndrome 2 | LEOPARD SYNDROME 2 | OMIM ID:164760 | UMLS ID:C1969056 | MONDO:0012691 | OMIM ID:611554 +BMGC_DS12613,BMG_DS041695,UMLS ID:C1969057 | Noonan syndrome 5 | MONDO:0012690 | OMIM ID:611553 | MeSH ID:C548083 | DOID:0060583 | Noonan Syndrome 5 +BMGC_DS12614,BMG_DS041696,Premature Ovarian Failure 5 | MeSH ID:C566921 | UMLS ID:C1969060 | MONDO:0012689 | premature ovarian failure 5 | OMIM ID:611548 +BMGC_DS12615,BMG_DS041697,"UMLS ID:C1969062 | MeSH ID:C566923 | Cataract, Congenital Nuclear, Autosomal Recessive 3" +BMGC_DS12616,BMG_DS041698,OMIM ID:611543 | familial cavitary optic disk anomaly | UMLS ID:C1969063 | MONDO:0012687 +BMGC_DS12617,BMG_DS041700,"MeSH ID:C566925 | UMLS ID:C1969081 | MONDO:0012684 | arrhythmogenic right ventricular dysplasia 12 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 | OMIM ID:611528" +BMGC_DS12618,BMG_DS041701,UMLS ID:C1969084 | OMIM ID:611523 | MONDO:0012683 | DOID:0060275 | pontocerebellar hypoplasia type 6 | MeSH ID:C548074 | Pontocerebellar Hypoplasia Type 6 +BMGC_DS12619,BMG_DS041702,DOID:0111989 | OMIM ID:611521 | Tyrosine Kinase 2 Deficiency | UMLS ID:C1969086 | MeSH ID:C566928 | MONDO:0012682 | immunodeficiency 35 +BMGC_DS12620,BMG_DS041704,NEPHRONOPHTHISIS 7 | nephronophthisis 7 | OMIM ID:611498 | OMIM ID:608539 | MONDO:0012680 | UMLS ID:C1969092 +BMGC_DS12621,BMG_DS041705,"OMIM ID:611497 | UMLS ID:C1969093 | Osteopetrosis, Autosomal Recessive 6 | autosomal recessive osteopetrosis 6 | MeSH ID:C566931 | MONDO:0012679" +BMGC_DS12622,BMG_DS041706,"UMLS ID:C1969099 | OMIM ID:611494 | Atrial Fibrillation, Familial, 5 | MeSH ID:C566932 | MONDO:0012678 | atrial fibrillation, familial, 5" +BMGC_DS12623,BMG_DS041707,"UMLS ID:C1969106 | Osteopetrosis, Autosomal Recessive 4 | MONDO:0012676 | autosomal recessive osteopetrosis 4 | OMIM ID:611490 | MeSH ID:C566933" +BMGC_DS12624,BMG_DS041710,OMIM ID:611465 | OMIM ID:605460 | UMLS ID:C1969115 | GALLBLADDER DISEASE 4 +BMGC_DS12625,BMG_DS041711,"OMIM ID:600799 | OMIM ID:178600 | UMLS ID:C1969342 | PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED" +BMGC_DS12626,BMG_DS041712,"Pulmonary Hypertension, Primary, Fenfluramine-Associated | UMLS ID:C1969343 | Familial Primary Pulmonary Hypertension | MeSH ID:D065627" +BMGC_DS12627,BMG_DS041714,mitochondrial trifunctional protein deficiency | MONDO:0012172 | DOID:0111277 | UMLS ID:C1969443 | MeSH ID:C566945 | Trifunctional Protein Deficiency With Myopathy And Neuropathy +BMGC_DS12628,BMG_DS041718,"UMLS ID:C1969562 | MONDO:0007974 | OMIM ID:156200 | intellectual disability, autosomal dominant 1" +BMGC_DS12629,BMG_DS041721,"OMIM ID:611451 | DEAFNESS, AUTOSOMAL RECESSIVE 63 | MONDO:0012670 | autosomal recessive nonsyndromic hearing loss 63 | OMIM ID:612414 | UMLS ID:C1969621" +BMGC_DS12630,BMG_DS041722,Neurofibromatosis type 1-like syndrome (disorder) | MONDO:0012669 | Legius syndrome | UMLS ID:C1969623 | NFLS - neurofibromatosis type 1-like syndrome | DOID:0070484 | OMIM ID:611431 | SNOMEDCT ID:703541007 | Neurofibromatosis type 1-like syndrome +BMGC_DS12631,BMG_DS041724,"UMLS ID:C1969639 | MONDO:0012667 | MeSH ID:C566954 | Cardiomyopathy, Dilated, 1w | dilated cardiomyopathy 1W | OMIM ID:611407" +BMGC_DS12632,BMG_DS041726,"UMLS ID:C1969644 | Cataract, Cortical, Juvenile-Onset | MeSH ID:C566955" +BMGC_DS12633,BMG_DS041727,"MONDO:0012664 | OMIM ID:611390 | Ataxia, Spastic, 3, Autosomal Recessive | MeSH ID:C566956 | UMLS ID:C1969645 | spastic ataxia 3" +BMGC_DS12634,BMG_DS041730,"MeSH ID:C566958 | Macular Degeneration, Age-Related, 9 | OMIM ID:611378 | age related macular degeneration 9 | UMLS ID:C1969651 | MONDO:0012659" +BMGC_DS12635,BMG_DS041731,OMIM ID:611377 | brachydactyly type B2 | MONDO:0012658 | SNOMEDCT ID:770406002 | UMLS ID:C1969652 | Brachydactyly type B2 (disorder) | Brachydactyly type B2 +BMGC_DS12636,BMG_DS041732,MUNGAN SYNDROME | UMLS ID:C1969653 | MONDO:0012657 | OMIM ID:611376 | OMIM ID:606462 | Mungan syndrome +BMGC_DS12637,BMG_DS041733,UMLS ID:C1969655 | lethal congenital contracture syndrome 3 | OMIM ID:611369 | MONDO:0012656 +BMGC_DS12638,BMG_DS041734,"OMIM ID:611364 | myoclonic epilepsy, juvenile, susceptibility to, 4 | UMLS ID:C1969656 | MONDO:0012655 | juvenile myoclonic epilepsy 4 | MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 | DOID:0111327" +BMGC_DS12639,BMG_DS041735,MeSH ID:C566963 | atrial septal defect 4 | Atrial Septal Defect 4 | MONDO:0012654 | OMIM ID:611363 | UMLS ID:C1969657 +BMGC_DS12640,BMG_DS041736,"autism, susceptibility to, 8 | UMLS ID:C1969710 | OMIM ID:607373 | MONDO:0011824" +BMGC_DS12641,BMG_DS041737,"MONDO:0009097 | UMLS ID:C1969783 | persistent hyperplastic primary vitreous, autosomal recessive | Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | OMIM ID:221900 | MeSH ID:C566966" +BMGC_DS12642,BMG_DS041739,"MeSH ID:C566968 | Muscular Dystrophy, Limb-Girdle, Type 2L | UMLS ID:C1969785 | MONDO:0012652 | OMIM ID:611307 | autosomal recessive limb-girdle muscular dystrophy type 2L" +BMGC_DS12643,BMG_DS041740,"MONDO:0012651 | OMIM ID:611302 | MeSH ID:C566969 | UMLS ID:C1969796 | spastic ataxia 2 | Ataxia, Spastic, 2, Autosomal Recessive" +BMGC_DS12644,BMG_DS041741,"UMLS ID:C1969799 | MONDO:0012650 | MeSH ID:C566970 | OMIM ID:611291 | Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation | Cernunnos-XLF deficiency" +BMGC_DS12645,BMG_DS041742,"MeSH ID:C566973 | Dystonia, Focal, Task-Specific | UMLS ID:C1969807 | dystonia, focal, task-specific | OMIM ID:611284 | MONDO:0044871" +BMGC_DS12646,BMG_DS041743,MONDO:0012648 | OMIM ID:611283 | Isobutyryl-CoA dehydrogenase deficiency | UMLS ID:C1969809 | isobutyryl-CoA dehydrogenase deficiency | MeSH ID:C535541 +BMGC_DS12647,BMG_DS041744,"MONDO:0011891 | OMIM ID:611277 | febrile seizures, familial, 8 | OMIM ID:607681 | UMLS ID:C1969810" +BMGC_DS12648,BMG_DS041745,"MeSH ID:C566976 | Glaucoma 1, Open Angle, H | obsolete glaucoma 1, open angle, H | UMLS ID:C1969811 | MONDO:0012646 | OMIM ID:611276" +BMGC_DS12649,BMG_DS041749,"intellectual disability, FRA12A type | MONDO:0007634 | UMLS ID:C1969893 | OMIM ID:136630" +BMGC_DS12650,BMG_DS041752,UMLS ID:C1970005 | DOID:0110086 | Asphyxiating Thoracic Dystrophy 2 | MONDO:0012644 | OMIM ID:611263 | asphyxiating thoracic dystrophy 2 | MeSH ID:C566982 +BMGC_DS12651,BMG_DS041753,"hereditary spastic paraplegia 32 | SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE | OMIM ID:611252 | MONDO:0012643 | UMLS ID:C1970009" +BMGC_DS12652,BMG_DS041755,"UMLS ID:C1970011 | OMIM ID:611228 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J | OMIM ID:609390 | MONDO:0012640 | Charcot-Marie-Tooth disease type 4J" +BMGC_DS12653,BMG_DS041757,"restless legs syndrome, susceptibility to, 6 | UMLS ID:C1970020 | OMIM ID:611185 | MONDO:0012636" +BMGC_DS12654,BMG_DS041758,"Congenital Disorder Of Glycosylation, Type IIH | COG8-congenital disorder of glycosylation | congenital disorder of glycosylation type IIh | MeSH ID:C566987 | OMIM ID:611182 | DOID:0070260 | UMLS ID:C1970021 | MONDO:0012635" +BMGC_DS12655,BMG_DS041759,"Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility | craniofacial dysplasia - osteopenia syndrome | OMIM ID:611174 | UMLS ID:C1970027 | MONDO:0012634 | MeSH ID:C566988" +BMGC_DS12656,BMG_DS041760,"MONDO:0021024 | UMLS ID:C1970028 | OMIM ID:611162 | malaria, susceptibility to" +BMGC_DS12657,BMG_DS041763,"UMLS ID:C1970106 | MeSH ID:C566222 | Bpes, Type I, Autosomal Recessive" +BMGC_DS12658,BMG_DS041764,spastic ataxia 1 | MONDO:0007164 | OMIM ID:108600 | UMLS ID:C1970107 +BMGC_DS12659,BMG_DS041765,UMLS ID:C1970109 | AROMATASE EXCESS SYNDROME | aromatase excess syndrome | OMIM ID:139300 | MONDO:0007690 | OMIM ID:107910 +BMGC_DS12660,BMG_DS041768,"ankyrin-B-related cardiac arrhythmia | OMIM ID:600919 | cardiac arrhythmia, ankyrin-B-related | MONDO:0010958 | DOID:0111700 | OMIM ID:106410 | CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED | UMLS ID:C1970119" +BMGC_DS12661,BMG_DS041769,"Angioma serpiginosum, autosomal dominant | OMIM ID:106050 | MeSH ID:C536365 | UMLS ID:C1970130 | MONDO:0007115 | angioma serpiginosum, autosomal dominant" +BMGC_DS12662,BMG_DS041774,UMLS ID:C1970149 | MONDO:0012629 | DOID:0090047 | MeSH ID:C567001 | OMIM ID:611147 | paroxysmal nonkinesigenic dyskinesia 2 | Paroxysmal Nonkinesigenic Dyskinesia 2 +BMGC_DS12663,BMG_DS041776,"OMIM ID:610142 | Meckel syndrome, type 4 | OMIM ID:611134 | MECKEL SYNDROME, TYPE 4 | UMLS ID:C1970161 | MONDO:0012626" +BMGC_DS12664,BMG_DS041778,retinitis pigmentosa 37 | UMLS ID:C1970163 | DOID:0110399 | MeSH ID:C567005 | Retinitis Pigmentosa 37 | MONDO:0012625 | OMIM ID:611131 +BMGC_DS12665,BMG_DS041779,"MeSH ID:C567006 | DOID:0112072 | UMLS ID:C1970173 | Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of | nuclear type mitochondrial complex I deficiency 20" +BMGC_DS12666,BMG_DS041781,"intellectual disability, autosomal recessive 4 | MONDO:0012623 | OMIM ID:611107 | UMLS ID:C1970179" +BMGC_DS12667,BMG_DS041782,MeSH ID:C567009 | MONDO:0012622 | UMLS ID:C1970180 | leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | OMIM ID:611105 +BMGC_DS12668,BMG_DS041783,"MeSH ID:C567010 | MONDO:0012621 | OMIM ID:611102 | Deafness, Sensorineural, And Male Infertility | deafness-infertility syndrome | UMLS ID:C1970187" +BMGC_DS12669,BMG_DS041785,"intellectual disability, autosomal recessive 11 | OMIM ID:611097 | MONDO:0012619 | UMLS ID:C1970193" +BMGC_DS12670,BMG_DS041786,"UMLS ID:C1970194 | OMIM ID:611096 | intellectual disability, autosomal recessive 10 | MONDO:0012618" +BMGC_DS12671,BMG_DS041787,"MONDO:0012617 | intellectual disability, autosomal recessive 9 | OMIM ID:611095 | UMLS ID:C1970195" +BMGC_DS12672,BMG_DS041788,"OMIM ID:611093 | MONDO:0012615 | UMLS ID:C1970197 | intellectual disability, autosomal recessive 7" +BMGC_DS12673,BMG_DS041789,"MONDO:0012614 | intellectual disability, autosomal recessive 6 | UMLS ID:C1970198 | OMIM ID:611092" +BMGC_DS12674,BMG_DS041790,"UMLS ID:C1970199 | MONDO:0012613 | intellectual disability, autosomal recessive 5 | OMIM ID:611091" +BMGC_DS12675,BMG_DS041791,"intellectual disability, autosomal recessive 12 | OMIM ID:611090 | UMLS ID:C1970200 | MONDO:0012612" +BMGC_DS12676,BMG_DS041792,"OMIM ID:611087 | DOID:0070511 | polyhydramnios, megalencephaly, and symptomatic epilepsy | MONDO:0012611 | UMLS ID:C1970203 | Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy | MeSH ID:C567020" +BMGC_DS12677,BMG_DS041793,MeSH ID:C567021 | MONDO:0012610 | inflammatory bowel disease 10 | OMIM ID:611081 | Inflammatory Bowel Disease 10 | DOID:0110885 | UMLS ID:C1970207 +BMGC_DS12678,BMG_DS041795,"neuronopathy, distal hereditary motor, autosomal recessive 4 | DOID:0111213 | autosomal recessive distal hereditary motor neuronopathy 4 | OMIM ID:611067 | MONDO:0012608 | MeSH ID:C567023 | Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 | UMLS ID:C1970211" +BMGC_DS12679,BMG_DS041796,"asthma-related traits, susceptibility to, 5 | MONDO:0012607 | OMIM ID:611064 | UMLS ID:C1970224" +BMGC_DS12680,BMG_DS041798,"UMLS ID:C1970236 | isolated microphthalmia 5 | Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen | MeSH ID:C567024 | MONDO:0012605 | OMIM ID:611040" +BMGC_DS12681,BMG_DS041799,"UMLS ID:C1970237 | MeSH ID:C567025 | Microphthalmia, Isolated 3" +BMGC_DS12682,BMG_DS041800,OMIM ID:611031 | Episodic Kinesigenic Dyskinesia 2 | DOID:0090054 | episodic kinesigenic dyskinesia 2 | UMLS ID:C1970238 | MONDO:0012603 | MeSH ID:C567026 +BMGC_DS12683,BMG_DS041801,"OMIM ID:179410 | autosomal recessive nonsyndromic hearing loss 24 | UMLS ID:C1970239 | DEAFNESS, AUTOSOMAL RECESSIVE, 24 | MONDO:0012602 | OMIM ID:611022" +BMGC_DS12684,BMG_DS041802,"autism, susceptibility to, 10 | MONDO:0012601 | UMLS ID:C1970242 | OMIM ID:611016" +BMGC_DS12685,BMG_DS041803,"UMLS ID:C1970243 | OMIM ID:611015 | MONDO:0012600 | autism, susceptibility to, 9" +BMGC_DS12686,BMG_DS041806,"UMLS ID:C1970250 | prostate cancer, hereditary, 9 | MONDO:0012597 | OMIM ID:610997" +BMGC_DS12687,BMG_DS041807,MONDO:0012596 | OMIM ID:610992 | Phosphoserine Aminotransferase Deficiency | MeSH ID:C567032 | UMLS ID:C1970253 | PSAT deficiency +BMGC_DS12688,BMG_DS041808,"leprosy, susceptibility to, 4 | MONDO:0012595 | UMLS ID:C1970254 | OMIM ID:610988" +BMGC_DS12689,BMG_DS041809,"Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress | OMIM ID:610978 | MeSH ID:C567034 | UMLS ID:C1970269 | MONDO:0012593 | brain-lung-thyroid syndrome" +BMGC_DS12690,BMG_DS041810,MeSH ID:C567034 | UMLS ID:C1970270 | Choreoathetosis And Congenital Hypothyroidism +BMGC_DS12691,BMG_DS041811,"OMIM ID:604625 | UMLS ID:C1970291 | Tooth Agenesis, Selective, 3 | MeSH ID:C567036 | MONDO:0011477 | tooth agenesis, selective, 3" +BMGC_DS12692,BMG_DS041812,"Progressive Familial Heart Block, Type Ib | UMLS ID:C1970298 | progressive familial heart block type IB | OMIM ID:604559 | DOID:0111076 | MONDO:0011474 | MeSH ID:C567037" +BMGC_DS12693,BMG_DS041813,"MeSH ID:C567038 | autosomal recessive proximal renal tubular acidosis | OMIM ID:604278 | MONDO:0011422 | UMLS ID:C1970309 | Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation" +BMGC_DS12694,BMG_DS041815,"OMIM ID:603585 | UMLS ID:C1970344 | congenital disorder of glycosylation type IIf | SLC35A1-congenital disorder of glycosylation | Congenital Disorder Of Glycosylation, Type IIF | MeSH ID:C567040 | DOID:0070258 | MONDO:0011342" +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 | MeSH ID:C567043 | DOID:0060590 | UMLS ID:C1970416 | XFE progeroid syndrome | MONDO:0012590 | OMIM ID:610965 +BMGC_DS12697,BMG_DS041818,UMLS ID:C1970431 | Pitt-Hopkins syndrome | OMIM ID:610954 | DOID:0060488 | MONDO:0012589 | PITT-HOPKINS SYNDROME | OMIM ID:602272 +BMGC_DS12698,BMG_DS041820,"MeSH ID:C567045 | Coronary Artery Disease, Autosomal Dominant 2 | MONDO:0012586 | coronary artery disease, autosomal dominant 2 | UMLS ID:C1970440 | OMIM ID:610947" +BMGC_DS12699,BMG_DS041821,"UMLS ID:C1970441 | OMIM ID:610938 | coronary heart disease, susceptibility to, 7 | MONDO:0012585" +BMGC_DS12700,BMG_DS041822,"OMIM ID:610927 | systemic lupus erythematosus, susceptibility to, 9 | MONDO:0012584 | UMLS ID:C1970455" +BMGC_DS12701,BMG_DS041823,"interstitial lung disease due to ABCA3 deficiency | UMLS ID:C1970456 | Surfactant Metabolism Dysfunction, Pulmonary, 3 | MONDO:0012582 | MeSH ID:C567046 | OMIM ID:610921" +BMGC_DS12702,BMG_DS041824,"MeSH ID:C536049 | Osteogenesis imperfecta, type VIII | osteogenesis imperfecta type 8 | MONDO:0012581 | OMIM ID:610915 | UMLS ID:C1970458" +BMGC_DS12703,BMG_DS041826,"MeSH ID:C567048 | OMIM ID:610913 | MONDO:0024465 | surfactant metabolism dysfunction, pulmonary, 2 | Surfactant Metabolism Dysfunction, Pulmonary, 2 | UMLS ID:C1970470" +BMGC_DS12704,BMG_DS041827,"MONDO:0012579 | OMIM ID:610910 | PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED | autoimmune pulmonary alveolar proteinosis | UMLS ID:C1970472" +BMGC_DS12705,BMG_DS041831,UMLS ID:C1970479 | branchiootorenal syndrome 2 | MeSH ID:D019280 | OMIM ID:610896 | Branchio-Oto-Renal Syndrome | MONDO:0012575 | Branchiootorenal Syndrome 2 +BMGC_DS12706,BMG_DS041832,Vesicoureteral Reflux 2 | vesicoureteral reflux 2 | UMLS ID:C1970483 | MeSH ID:C567053 | MONDO:0012573 | OMIM ID:610878 +BMGC_DS12707,BMG_DS041834,"UMLS ID:C1970506 | OMIM ID:610852 | CILIARY DYSKINESIA, PRIMARY, 6 | MONDO:0012571 | OMIM ID:607421 | primary ciliary dyskinesia 6" +BMGC_DS12708,BMG_DS041837,OMIM ID:610755 | UMLS ID:C1970712 | MONDO:0012552 | multiple endocrine neoplasia type 4 +BMGC_DS12709,BMG_DS041838,"MONDO:0010834 | Hirschsprung disease, susceptibility to, 5 | OMIM ID:600156 | UMLS ID:C1970723" +BMGC_DS12710,BMG_DS041839,"Tooth Agenesis, Selective, X-Linked, 1 | MeSH ID:C567060 | MONDO:0010741 | tooth agenesis, selective, X-linked, 1 | OMIM ID:313500 | UMLS ID:C1970757" +BMGC_DS12711,BMG_DS041842,"MeSH ID:C567062 | Fabry Disease, Cardiac Variant | UMLS ID:C1970820" +BMGC_DS12712,BMG_DS041843,"syndromic X-linked intellectual disability 14 | MONDO:0010398 | UMLS ID:C1970822 | MeSH ID:C567063 | OMIM ID:300676 | Mental Retardation, X-Linked, Syndromic 14" +BMGC_DS12713,BMG_DS041844,OMIM ID:300661 | Phosphoribosylpyrophosphate Synthetase Superactivity | phosphoribosylpyrophosphate synthetase superactivity | DOID:0111260 | UMLS ID:C1970827 | MeSH ID:C567064 | MONDO:0010395 +BMGC_DS12714,BMG_DS041845,"UMLS ID:C1970841 | non-syndromic X-linked intellectual disability 93 | OMIM ID:300553 | OMIM ID:300659 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 | intellectual disability, X-linked 93 | MONDO:0010393 | DOID:0112045" +BMGC_DS12715,BMG_DS041846,glycogen storage disease due to phosphoglycerate kinase 1 deficiency | UMLS ID:C1970848 | OMIM ID:300653 | DOID:0111933 | MeSH ID:C567067 | phosphoglycerate kinase 1 deficiency | Phosphoglycerate Kinase 1 Deficiency | MONDO:0010392 +BMGC_DS12716,BMG_DS041847,"Atypical Mycobacteriosis, Familial, X-Linked 2 | UMLS ID:C1970859 | X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | MeSH ID:C567068 | DOID:0112000 | MONDO:0010389 | immunodeficiency 34 | OMIM ID:300645" +BMGC_DS12717,BMG_DS041848,UMLS ID:C1970879 | OMIM ID:300248 | OMIM ID:300636 | OMIM ID:300584 | IMMUNODEFICIENCY 33 | immunodeficiency 33 | MONDO:0010386 | DOID:0112003 +BMGC_DS12718,BMG_DS041859,UMLS ID:C1971021 | Hypopotassaemia syndrome | Hypokalaemic syndrome | Potassium depletion | Hypokalemia | Potassium deficiency | Hypokalemia (disorder) | SNOMEDCT ID:43339004 | Hypopotassemia | Hypopotassemia syndrome | Hypopotassaemia | K deficiency | Hypokalaemia | Hypokalemic syndrome +BMGC_DS12719,BMG_DS041954,Chlamydia trachomatis genital infection | Chlamydia trachomatis infection of genital structure (disorder) | SNOMEDCT ID:428015005 | Chlamydia trachomatis infection of genital structure | UMLS ID:C1997322 +BMGC_DS12720,BMG_DS041958,SNOMEDCT ID:429589006 | Left ventricular cardiac dysfunction | Left ventricular cardiac dysfunction (disorder) | UMLS ID:C1997351 +BMGC_DS12721,BMG_DS041996,Osteomyelitis caused by Staphylococcus aureus (disorder) | SNOMEDCT ID:428783003 | Osteomyelitis caused by Staphylococcus aureus | UMLS ID:C1997728 +BMGC_DS12722,BMG_DS042014,Citrin deficiency | SLC25A13 related citrin deficiency | UMLS ID:C1997910 | Solute carrier family 25 member 13 related citrin deficiency | Citrin deficiency (disorder) | citrin deficiency | SNOMEDCT ID:429735007 | MONDO:0016602 +BMGC_DS12723,BMG_DS042157,Esopheal reflux without mention of esophagitis | SNOMEDCT ID:196624002 | Gastro-esophageal reflux disease without esophagitis | Esophageal reflux (& [without mention of esophagitis]) | UMLS ID:C2004423 | Oesophageal reflux | Gastro-oesophageal reflux | Acid reflux | Oesopheal reflux without mention of oesophagitis | Gastro-esophageal reflux | Oesophageal reflux (& [without mention of oesophagitis]) (disorder) | Oesophageal reflux (& [without mention of oesophagitis]) | Gastro-oesophageal reflux disease without oesophagitis | Esophageal reflux +BMGC_DS12724,BMG_DS042159,Vascular insufficiency of intestine | Ischemic bowel disease | Ischaemic bowel disease | Vascular insufficiency of intestine (disorder) | UMLS ID:C2004435 | Intestinal ischemia | Intestinal ischaemia | MONDO:0020675 | Ischemic disease of gut | SNOMEDCT ID:82196007 | ischemic bowel disorder | Ischaemic disease of gut | Vascular insufficiency of the intestine +BMGC_DS12725,BMG_DS042256,DOID:5310 | UMLS ID:C2012261 | MONDO:0003390 | glycogen-rich clear cell breast carcinoma +BMGC_DS12726,BMG_DS042282,ovarian squamous cell carcinoma | MONDO:0003494 | DOID:5531 | UMLS ID:C2019443 +BMGC_DS12727,BMG_DS042286,"OMIM ID:108300 | Stickler syndrome, type 1 | MeSH ID:C537492 | Stickler syndrome type 1 | UMLS ID:C2020284 | MONDO:0007160" +BMGC_DS12728,BMG_DS042308,group B streptococcal infection | MONDO:0700218 | MeSH ID:D013290 | Streptococcal Infections | Group B Streptococcal Infection | UMLS ID:C2020625 +BMGC_DS12729,BMG_DS042349,diffuse large B-cell lymphoma of the central nervous system | UMLS ID:C2026186 | primary diffuse large B-cell lymphoma of the central nervous system | MONDO:0017596 | DOID:0081313 +BMGC_DS12730,BMG_DS042351,MONDO:0010247 | X-linked cerebral adrenoleukodystrophy | UMLS ID:C2026514 +BMGC_DS12731,BMG_DS042352,MONDO:0006926 | haemophilus infectious disease | UMLS ID:C2028293 | Haemophilus Infections | MeSH ID:D006192 | Haemophilus influenzae Type b Infection +BMGC_DS12732,BMG_DS042357,UMLS ID:C2033037 | DOID:5741 | pancreatic vasoactive intestinal peptide producing tumor | MONDO:0003622 +BMGC_DS12733,BMG_DS042390,Mixed hyperlipidemia | Mixed hyperlipidaemia | Multiple-type hyperlipidaemia | Multiple-type hyperlipidemia | UMLS ID:C2047520 | Mixed hyperlipidemia (disorder) | SNOMEDCT ID:267434003 +BMGC_DS12734,BMG_DS042400,indolent plasma cell myeloma | UMLS ID:C2049069 | DOID:9550 +BMGC_DS12735,BMG_DS042403,pectus excavatum | OMIM ID:169300 | UMLS ID:C2051831 | MONDO:0008213 +BMGC_DS12736,BMG_DS042428,MONDO:0006447 | testicular germ cell tumor non-seminomatous | testicular non-seminomatous germ cell tumor | DOID:4086 | UMLS ID:C2057625 +BMGC_DS12737,BMG_DS042432,congenital fibrinogen deficiency | UMLS ID:C2062367 | MONDO:0018060 +BMGC_DS12738,BMG_DS042433,UMLS ID:C2062388 | SNOMEDCT ID:720459002 | DOID:0111622 | ACTH-independent macronodular adrenal hyperplasia | Hypercortisolism due to macronodular adrenal hyperplasia (disorder) | Cushing syndrome due to macronodular adrenal hyperplasia | Hypercortisolism due to macronodular adrenal hyperplasia | MONDO:0009049 +BMGC_DS12739,BMG_DS042442,Acute pyelonephritis caused by bacterium (disorder) | Acute pyelonephritis caused by bacterium | SNOMEDCT ID:838353009 | Acute bacterial pyelonephritis | UMLS ID:C2062473 +BMGC_DS12740,BMG_DS042454,Pneumonia caused by Acinetobacter (disorder) | Acinetobacter pneumonia | SNOMEDCT ID:1010634002 | Pneumonia caused by Acinetobacter | UMLS ID:C2063075 +BMGC_DS12741,BMG_DS042466,MONDO:0004156 | UMLS ID:C2063873 | mucinous cystadenocarcinoma of pancreas | pancreatic mucinous cystadenocarcinoma | DOID:7234 +BMGC_DS12742,BMG_DS042469,DOID:3254 | extrahepatic bile duct rhabdomyosarcoma | UMLS ID:C2064434 | bile duct rhabdomyosarcoma | MONDO:0002577 +BMGC_DS12743,BMG_DS042584,"UMLS ID:C2074900 | Postoperative Pain, Chronic | MeSH ID:D010149 | Pain, Postoperative" +BMGC_DS12744,BMG_DS042590,UMLS ID:C2076600 | Influenza caused by Influenza A virus subtype H1N1 (disorder) | Influenza due to Influenza A virus subtype H1N1 | SNOMEDCT ID:442696006 | Influenza caused by Influenza A virus subtype H1N1 | Influenza A (H1N1) +BMGC_DS12745,BMG_DS042724,tic disorder | UMLS ID:C2169806 | MONDO:0002420 +BMGC_DS12746,BMG_DS042802,bile duct sarcoma | MONDO:0024658 | extrahepatic bile duct sarcoma | DOID:4064 | UMLS ID:C2205442 +BMGC_DS12747,BMG_DS042808,MONDO:0003795 | ovarian small cell carcinoma | UMLS ID:C2212006 +BMGC_DS12748,BMG_DS042926,"UMLS ID:C2231324 | MeSH ID:D002006 | Brucellosis, Pulmonary | Brucellosis" +BMGC_DS12749,BMG_DS042978,OMIM ID:114550 | MONDO:0007256 | DOID:684 | UMLS ID:C2239176 | hepatocellular carcinoma +BMGC_DS12750,BMG_DS042988,"UMLS ID:C2239351 | MONDO:0013386 | DEAFNESS, AUTOSOMAL RECESSIVE 74 | OMIM ID:613718 | autosomal recessive nonsyndromic hearing loss 74 | OMIM ID:613719" +BMGC_DS12751,BMG_DS042994,SNOMEDCT ID:111253001 | Infection of bone | Bone infection | UMLS ID:C2242472 | Infection of bone (disorder) +BMGC_DS12752,BMG_DS043002,Phantosmia | MeSH ID:D000857 | UMLS ID:C2242552 | Olfaction Disorders +BMGC_DS12753,BMG_DS043004,UMLS ID:C2242577 | MONDO:0019771 | oromandibular dystonia +BMGC_DS12754,BMG_DS043005,Cardio-Renal Syndrome | MONDO:0044079 | MeSH ID:D059347 | cardio-renal syndrome | UMLS ID:C2242703 +BMGC_DS12755,BMG_DS043008,SNOMEDCT ID:24079001 | Besnier prurigo | Atopic eczema | Constitutional eczema | UMLS ID:C2242769 | Atopic dermatitis (disorder) | SNOMEDCT ID:200773006 | AD - Atopic dermatitis | Disseminated neurodermatitis | ICD10 ID:L20.0 | Atopic prurigo | ICD11 ID:EC91.1 | Besnier's prurigo (disorder) | Atopic dermatitis | Besnier's prurigo +BMGC_DS12756,BMG_DS043031,SNOMEDCT ID:201232004 | SNOMEDCT ID:419093005 | Keratinous cyst | Steatoma | Pilar cyst | OMIM ID:609649 | UMLS ID:C2266788 | Wen | Sebaceous cyst | SNOMEDCT ID:201234003 | Trichilemmal cyst (disorder) | trichilemmal cyst | SNOMEDCT ID:254677004 | Sebaceous cyst (morphologic abnormality) | Steatocystoma | SNOMEDCT ID:87373006 | Keratinizing cyst | Trichilemmal cyst (morphologic abnormality) | Isthmus catagen cyst | Keratinising cyst | Trichilemmal cyst | Follicular isthmus cyst | MONDO:0012328 +BMGC_DS12757,BMG_DS043032,UMLS ID:C2267227 | MONDO:0005452 | bulimia nervosa +BMGC_DS12758,BMG_DS043035,Chronic idiopathic neutropenia (disorder) | Chronic familial neutropaenia | UMLS ID:C2267231 | SNOMEDCT ID:248693006 | Benign familial neutropenia | Chronic familial neutropenia | SNOMEDCT ID:53917000 | Chronic familial neutropenia (disorder) | SNOMEDCT ID:234576008 | Chronic idiopathic neutropaenia | Chronic idiopathic neutropenia | Benign familial neutropaenia | SNOMEDCT ID:234419009 | Idiopathic agranulocytosis +BMGC_DS12759,BMG_DS043036,MeSH ID:D009123 | UMLS ID:C2267233 | Muscle Hypotonia | Neonatal Hypotonia +BMGC_DS12760,BMG_DS043039,MONDO:0018453 | familial atypical multiple mole melanoma syndrome | UMLS ID:C2314896 +BMGC_DS12761,BMG_DS043043,Pediatric failure to thrive (disorder) | SNOMEDCT ID:432788009 | Pediatric failure to thrive | Paediatric failure to thrive | UMLS ID:C2315100 +BMGC_DS12762,BMG_DS043094,Cryopyrin-Associated Periodic Syndromes | MONDO:0016168 | cryopyrin-associated periodic syndrome | UMLS ID:C2316212 | MeSH ID:D056587 +BMGC_DS12763,BMG_DS043123,Chronic kidney disease stage 5 (disorder) | CKD stage 5 | MONDO:0004375 | UMLS ID:C2316810 | SNOMEDCT ID:433146000 | end stage renal failure | Chronic kidney disease stage 5 +BMGC_DS12764,BMG_DS043131,Fetal Pyelectasis | MeSH ID:D058536 | UMLS ID:C2317073 | Pyelectasis +BMGC_DS12765,BMG_DS043157,MONDO:0019124 | microscopic polyangiitis | UMLS ID:C2347126 +BMGC_DS12766,BMG_DS043159,Short Qt Syndrome | short QT syndrome | MONDO:0000453 | UMLS ID:C2348199 | MeSH ID:C580439 +BMGC_DS12767,BMG_DS043161,Anterior Wall Myocardial Infarction | MeSH ID:D056988 | Acute Anterior Wall Myocardial Infarction | UMLS ID:C2349195 +BMGC_DS12768,BMG_DS043172,Pneumonia caused by Staphylococcus aureus (disorder) | SNOMEDCT ID:441658007 | UMLS ID:C2349530 | Pneumonia caused by Staphylococcus aureus +BMGC_DS12769,BMG_DS043203,"Tinea sycosis | Barbers' rash | Bacterial folliculitis | tinea barbae | MONDO:0000242 | Barbers' itch | Deep bacterial folliculitis | SNOMEDCT ID:399329002 | UMLS ID:C2349994 | Tinea barbae | Tinea barbae (disorder) | Sycosis barbae, not parasitic | Pseudofolliculitis barbae | SNOMEDCT ID:55875000 | Sycosis barbae | Mycotic sycosis | Sycosis vulgaris | Dermatophytosis of beard | Folliculitis barbae" +BMGC_DS12770,BMG_DS043204,Viral Croup | Croup | MeSH ID:D003440 | UMLS ID:C2350035 +BMGC_DS12771,BMG_DS043205,MeSH ID:D003440 | UMLS ID:C2350036 | Postintubation Croup | Croup +BMGC_DS12772,BMG_DS043206,"Demyelinating Diseases | MeSH ID:D003711 | Clinically Isolated Syndrome, CNS Demyelinating | UMLS ID:C2350037" +BMGC_DS12773,BMG_DS043209,"MeSH ID:D006103 | Granuloma, Lethal Midline | Polymorphic Reticulosis | UMLS ID:C2350168" +BMGC_DS12774,BMG_DS043210,Unilateral Nasal Obstruction | UMLS ID:C2350170 | MeSH ID:D015508 | Nasal Obstruction +BMGC_DS12775,BMG_DS043211,UMLS ID:C2350171 | MeSH ID:D015508 | Nasal Obstruction | Bilateral Nasal Obstruction +BMGC_DS12776,BMG_DS043212,MeSH ID:D054882 | UMLS ID:C2350233 | Antley-Bixler Syndrome Phenotype +BMGC_DS12777,BMG_DS043214,Lumbarsacral Spondylosis | UMLS ID:C2350238 | Spondylosis | MeSH ID:D055009 +BMGC_DS12778,BMG_DS043215,"MONDO:0006630 | MeSH ID:D055013 | UMLS ID:C2350242 | osteoarthritis, spine | Osteoarthritis, Spine" +BMGC_DS12779,BMG_DS043218,UMLS ID:C2350344 | MeSH ID:D055370 | Lung Injury | Chronic Lung Injury +BMGC_DS12780,BMG_DS043228,Resorption Pulmonary Atelectasis | UMLS ID:C2350822 | Pulmonary Atelectasis | MeSH ID:D001261 +BMGC_DS12781,BMG_DS043229,Contraction Pulmonary Atelectasis | Pulmonary Atelectasis | UMLS ID:C2350823 | MeSH ID:D001261 +BMGC_DS12782,BMG_DS043230,Pulmonary Atelectasis | UMLS ID:C2350824 | Postoperative Pulmonary Atelectasis | MeSH ID:D001261 +BMGC_DS12783,BMG_DS043231,Berylliosis | UMLS ID:C2350873 | MeSH ID:D001607 | Beryllium Disease +BMGC_DS12784,BMG_DS043232,UMLS ID:C2350875 | MeSH ID:D001989 | Bronchiolitis Obliterans | Constrictive Bronchiolitis +BMGC_DS12785,BMG_DS043233,"Bronchiolitis Obliterans | Bronchiolitis, Exudative | UMLS ID:C2350876 | MeSH ID:D001989" +BMGC_DS12786,BMG_DS043234,Pulmonary Emphysema | MeSH ID:D011656 | Focal Emphysema | UMLS ID:C2350878 +BMGC_DS12787,BMG_DS043235,MeSH ID:D011657 | UMLS ID:C2350879 | Tropical Eosinophilic Pneumonia | Pulmonary Eosinophilia +BMGC_DS12788,BMG_DS043236,"Bronchiolitis, Proliferative | Bronchiolitis Obliterans | UMLS ID:C2350988 | MeSH ID:D001989" +BMGC_DS12789,BMG_DS043242,MeSH ID:D063766 | UMLS ID:C2362324 | Pediatric Obesity +BMGC_DS12790,BMG_DS043248,UMLS ID:C2363065 | X-linked hypophosphatemic rickets | Vitamin D-resistant rickets (disorder) | ICD10 ID:E83.31 | SNOMEDCT ID:82236004 | Vitamin D-resistant rickets | Familial vitamin D-resistant rickets | HPDR I - Hypophosphataemic vitamin D-resistant rickets | Hereditary hypophosphataemia | Familial x-linked hypophosphatemic vitamin D refractory rickets | X-linked hypophosphataemic osteomalacia | Familial hypophosphataemia | Familial hypophosphatemic bone disease | X-linked hypophosphataemic rickets | SNOMEDCT ID:254118002 | Familial hypophosphatemic rickets | Vitamin D-resistant osteomalacia | X-linked hypophosphatemic osteomalacia | Familial hypophosphataemic rickets | Familial hypophosphatemia | Familial hypophosphataemic bone disease | Familial hypophosphatemic osteomalacia | Familial hypophosphataemic osteomalacia | X-linked vitamin D-resistant rickets | Familial x-linked hypophosphataemic vitamin D refractory rickets | Hereditary hypophosphatemia | SNOMEDCT ID:190861001 | HPDR I - Hypophosphatemic vitamin D-resistant rickets | Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) +BMGC_DS12791,BMG_DS043249,X-linked hypophosphatemic rickets | ICD10 ID:E83.31 | SNOMEDCT ID:82236004 | Vitamin D-resistant rickets | Familial vitamin D-resistant rickets | HPDR I - Hypophosphataemic vitamin D-resistant rickets | Hereditary hypophosphataemia | Familial x-linked hypophosphatemic vitamin D refractory rickets | X-linked hypophosphataemic osteomalacia | Familial hypophosphataemia | Familial hypophosphatemic bone disease | X-linked hypophosphataemic rickets | UMLS ID:C2363067 | Familial hypophosphatemic rickets | Vitamin D-resistant osteomalacia | X-linked hypophosphatemic osteomalacia | Familial hypophosphataemic rickets | Familial hypophosphatemia | Familial hypophosphataemic bone disease | Familial hypophosphatemic osteomalacia | Familial hypophosphataemic osteomalacia | X-linked vitamin D-resistant rickets | Familial x-linked hypophosphataemic vitamin D refractory rickets | Hereditary hypophosphatemia | HPDR I - Hypophosphatemic vitamin D-resistant rickets | Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) +BMGC_DS12792,BMG_DS043251,"Benign Rolandic Epilepsy | UMLS ID:C2363129 | MeSH ID:D019305 | Epilepsy, Rolandic" +BMGC_DS12793,BMG_DS043252,UMLS ID:C2363142 | T-cell prolymphocytic leukemia | MONDO:0019468 +BMGC_DS12794,BMG_DS043256,Astigmatism | MeSH ID:D001251 | Myopic Astigmatism | UMLS ID:C2363771 +BMGC_DS12795,BMG_DS043257,angiocentric glioma | MONDO:0016705 | UMLS ID:C2363903 +BMGC_DS12796,BMG_DS043259,UMLS ID:C2363973 | Chronic thromboembolic pulmonary hypertension | Thromboembolic pulmonary hypertension (disorder) | ICD10 ID:I27.24 | Thromboembolic pulmonary hypertension | SNOMEDCT ID:233947005 +BMGC_DS12797,BMG_DS043270,UMLS ID:C2364016 | ICD10 ID:M34 | Systemic sclerosis [scleroderma] +BMGC_DS12798,BMG_DS043283,MONDO:0019144 | UMLS ID:C2584611 | SNOMEDCT ID:439702007 | Hereditary protein S deficiency | Hereditary protein S deficiency (disorder) | hereditary thrombophilia due to congenital protein S deficiency +BMGC_DS12799,BMG_DS043284,"MONDO:0100240 | Thrombophilia, hereditary | UMLS ID:C2584620 | inherited thrombophilia | MeSH ID:C540694" +BMGC_DS12800,BMG_DS043296,Congenital hypofibrinogenemia (disorder) | UMLS ID:C2584774 | Congenital hypofibrinogenemia | MONDO:0008737 | congenital afibrinogenemia | OMIM ID:202400 | SNOMEDCT ID:439145006 | Congenital hypofibrinogenaemia +BMGC_DS12801,BMG_DS043308,Qualitative platelet disorder (disorder) | Qualitative platelet defect | UMLS ID:C2585231 | Qualitative platelet disorder | SNOMEDCT ID:267532001 | Thromboasthenia | SNOMEDCT ID:30577005 +BMGC_DS12802,BMG_DS043340,SNOMEDCT ID:439699000 | Hereditary antithrombin III deficiency | Hereditary antithrombin III deficiency (disorder) | UMLS ID:C2586031 +BMGC_DS12803,BMG_DS043352,MONDO:0011786 | Allergic rhinitis (disorder) | SNOMEDCT ID:61582004 | Atopic rhinitis | UMLS ID:C2607914 | AR - Allergic rhinitis | Allergic rhinitis | allergic rhinitis | Allergic rhinitis due to allergen +BMGC_DS12804,BMG_DS043353,"UMLS ID:C2607929 | MONDO:0008057 | Carney Complex, Type 1 | MeSH ID:D056733 | DOID:0050471 | OMIM ID:160980 | Carney complex, type 1 | Carney complex | Carney Complex" +BMGC_DS12805,BMG_DS043356,"UMLS ID:C2607947 | Unilateral deafness (situation) | Unilateral deafness | deafness, unilateral | MONDO:0007426 | OMIM ID:125000 | SNOMEDCT ID:162342008" +BMGC_DS12806,BMG_DS043358,Folliculitis depilans | ICD10 ID:L66.2 | Folliculitis decalvans | UMLS ID:C2608043 | Folliculitis decalvans (disorder) | ICD11 ID:ED70.50 | OMIM ID:MTHU044513 | SNOMEDCT ID:53593008 | SNOMEDCT ID:201153004 | Quinquaud's folliculitis decalvans | MONDO:0018103 +BMGC_DS12807,BMG_DS043359,MONDO:0003073 | UMLS ID:C2608045 | trilateral retinoblastoma +BMGC_DS12808,BMG_DS043360,UMLS ID:C2608055 | hereditary renal cell carcinoma | MONDO:0003008 +BMGC_DS12809,BMG_DS043361,"UMLS ID:C2608080 | MeSH ID:C537168 | Renal Hypoplasia, Isolated" +BMGC_DS12810,BMG_DS043362,"UMLS ID:C2608083 | OMIM ID:605479 | DOID:0070232 | MeSH ID:C535934 | Cholestasis, benign recurrent intrahepatic 2 | MONDO:0011559 | benign recurrent intrahepatic cholestasis 2 | benign recurrent intrahepatic cholestasis type 2" +BMGC_DS12811,BMG_DS043363,"OMIM ID:619787 | UMLS ID:C2608084 | Epidermolysis Bullosa, Junctional, Localisata Variant | MONDO:0030750 | MeSH ID:C562639 | epidermolysis bullosa, junctional 4, intermediate" +BMGC_DS12812,BMG_DS043364,"UMLS ID:C2608087 | neuronopathy, distal hereditary motor, type 2B | OMIM ID:608634 | MONDO:0012080" +BMGC_DS12813,BMG_DS043367,Antisynthetase syndrome (disorder) | antisynthetase syndrome | MeSH ID:C537778 | Antisynthetase syndrome | MONDO:0019344 | UMLS ID:C2609059 | DOID:0080744 | SNOMEDCT ID:445187004 +BMGC_DS12814,BMG_DS043369,MeSH ID:D000081012 | UMLS ID:C2609129 | Autoimmune Pancreatitis | MONDO:0015175 | autoimmune pancreatitis | DOID:0040091 +BMGC_DS12815,BMG_DS043373,low phospholipid associated cholelithiasis | MONDO:0010939 | OMIM ID:600803 | UMLS ID:C2609268 +BMGC_DS12816,BMG_DS043377,UMLS ID:C2609414 | acute kidney failure | MONDO:0002492 +BMGC_DS12817,BMG_DS043379,"UMLS ID:C2673186 | aortic aneurysm, familial thoracic 6 | MeSH ID:C567085 | OMIM ID:611788 | MONDO:0012730 | Aortic Aneurysm, Familial Thoracic 6" +BMGC_DS12818,BMG_DS043380,"OMIM ID:611783 | erythrocytosis, familial, 4 | MONDO:0012729 | UMLS ID:C2673187 | MeSH ID:C567086 | Erythrocytosis, Familial, 4" +BMGC_DS12819,BMG_DS043381,DOID:0110219 | OMIM ID:611777 | MeSH ID:C567087 | Brugada syndrome 2 | UMLS ID:C2673193 | Brugada Syndrome 2 | MONDO:0012728 +BMGC_DS12820,BMG_DS043382,"MONDO:0012726 | Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | MeSH ID:C567088 | OMIM ID:611773 | UMLS ID:C2673195 | autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome" +BMGC_DS12821,BMG_DS043383,lipoprotein glomerulopathy | LIPOPROTEIN GLOMERULOPATHY | UMLS ID:C2673196 | MONDO:0012725 | OMIM ID:107741 | OMIM ID:611771 +BMGC_DS12822,BMG_DS043384,MONDO:0012724 | MeSH ID:C567090 | OMIM ID:611762 | familial cold autoinflammatory syndrome 2 | Familial Cold Autoinflammatory Syndrome 2 | UMLS ID:C2673198 | DOID:0090063 +BMGC_DS12823,BMG_DS043386,MeSH ID:C566778 | Brain Tumor-Polyposis Syndrome 2 | UMLS ID:C2673218 +BMGC_DS12824,BMG_DS043387,progressive myoclonus epilepsy 3 | progressive myoclonic epilepsy type 3 | UMLS ID:C2673257 | DOID:0111446 | OMIM ID:611726 | MONDO:0012721 +BMGC_DS12825,BMG_DS043388,"Krabbe disease due to saposin A deficiency | MONDO:0012720 | OMIM ID:176801 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | OMIM ID:611722 | UMLS ID:C2673266" +BMGC_DS12826,BMG_DS043389,"MeSH ID:C567099 | UMLS ID:C2673375 | Mucolipidosis III Alpha Beta, Atypical" +BMGC_DS12827,BMG_DS043390,mucolipidosis type II | OMIM ID:252500 | UMLS ID:C2673377 | Mucolipidosis II Alpha Beta | MeSH ID:C567100 | MONDO:0009650 +BMGC_DS12828,BMG_DS043391,"MONDO:0016605 | Hypophosphatasia, Perinatal Lethal | UMLS ID:C2673477 | MeSH ID:C567107 | perinatal lethal hypophosphatasia" +BMGC_DS12829,BMG_DS043393,primary hypergonadotropic hypogonadism-partial alopecia syndrome | Hypergonadotropic Hypogonadism And Partial Alopecia | UMLS ID:C2673480 | OMIM ID:241090 | MeSH ID:C567109 | MONDO:0009420 +BMGC_DS12830,BMG_DS043394,"MeSH ID:C562567 | DOID:0112259 | Leydig Cell Hypoplasia, Type II | Leydig cell hypoplasia | UMLS ID:C2673497" +BMGC_DS12831,BMG_DS043395,"MONDO:0012971 | OMIM ID:612635 | UMLS ID:C2673520 | microvascular complications of diabetes, susceptibility to, 7" +BMGC_DS12832,BMG_DS043396,"OMIM ID:605407 | UMLS ID:C2673535 | MONDO:0011551 | TH-deficient dopa-responsive dystonia | MeSH ID:C537537 | Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive" +BMGC_DS12833,BMG_DS043397,UMLS ID:C2673536 | OMIM ID:233650 | Combined Cellular And Humoral Immune Defects With Granulomas | MeSH ID:C567115 | DOID:0112253 | MONDO:0009306 | combined immunodeficiency with skin granulomas | combined cellular and humoral immune defects with granulomas +BMGC_DS12834,BMG_DS043400,"MeSH ID:C567121 | UMLS ID:C2673611 | Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant" +BMGC_DS12835,BMG_DS043401,"Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive | UMLS ID:C2673612 | MeSH ID:C567122" +BMGC_DS12836,BMG_DS043402,"hypothyroidism, congenital, nongoitrous, 5 | MONDO:0009154 | OMIM ID:225250 | MeSH ID:C567123 | Hypothyroidism, Congenital, Nongoitrous, 5 | UMLS ID:C2673630" +BMGC_DS12837,BMG_DS043404,combined saposin deficiency | UMLS ID:C2673635 | combined PSAP deficiency | DOID:0111330 | MONDO:0012719 | OMIM ID:611721 | Combined Saposin Deficiency | MeSH ID:C567125 +BMGC_DS12838,BMG_DS043405,hypotonia with lactic acidemia and hyperammonemia | UMLS ID:C2673642 | Combined Oxidative Phosphorylation Deficiency 5 | MONDO:0012718 | MeSH ID:C567126 | OMIM ID:611719 | DOID:0111473 | combined oxidative phosphorylation deficiency 5 +BMGC_DS12839,BMG_DS043406,"renal hypomagnesemia 4 | MeSH ID:C567127 | UMLS ID:C2673648 | Hypomagnesemia 4, Renal | OMIM ID:611718 | MONDO:0012717" +BMGC_DS12840,BMG_DS043407,"UMLS ID:C2673649 | spondyloepiphyseal dysplasia, Cantu type | spondyloepiphyseal dysplasia-brachydactyly and distinctive speech | DOID:0112287 | MeSH ID:C567128 | OMIM ID:611717 | Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech | MONDO:0012716" +BMGC_DS12841,BMG_DS043408,"UMLS ID:C2673676 | migraine with or without aura, susceptibility to, 12 | MONDO:0012715 | OMIM ID:611706" +BMGC_DS12842,BMG_DS043409,"MONDO:0012714 | Myopathy, Early-Onset, with Fatal Cardiomyopathy | early-onset myopathy with fatal cardiomyopathy | MeSH ID:C567129 | OMIM ID:611705 | UMLS ID:C2673677" +BMGC_DS12843,BMG_DS043411,MeSH ID:C567131 | MONDO:0012712 | Dystonia with Cerebellar Atrophy | OMIM ID:611694 | dystonia with cerebellar atrophy | UMLS ID:C2673697 +BMGC_DS12844,BMG_DS043412,OMIM ID:222690 | UMLS ID:C2673736 | hyperdibasic aminoaciduria type 1 | MeSH ID:C567132 | Dibasic Amino Aciduria I | MONDO:0009108 +BMGC_DS12845,BMG_DS043413,"MONDO:0009076 | UMLS ID:C2673759 | MeSH ID:C567134 | autosomal recessive nonsyndromic hearing loss 1A | Deafness, Autosomal Recessive 1A | OMIM ID:220290" +BMGC_DS12846,BMG_DS043414,"Deafness, Digenic, Gjb2-Gjb6 | UMLS ID:C2673760 | MeSH ID:C567134" +BMGC_DS12847,BMG_DS043415,"UMLS ID:C2673761 | Deafness, Digenic, Gjb2-Gjb3 | MeSH ID:C567134" +BMGC_DS12848,BMG_DS043417,Ciliary Dyskinesia With Transposition Of Ciliary Microtubules | MONDO:0008985 | MeSH ID:C567137 | UMLS ID:C2673817 | ciliary dyskinesia with transposition of ciliary microtubules | OMIM ID:215520 +BMGC_DS12849,BMG_DS043418,Bardet-Biedl syndrome 13 | OMIM ID:615990 | BARDET-BIEDL SYNDROME 13 | MONDO:0014441 | UMLS ID:C2673873 | OMIM ID:609883 +BMGC_DS12850,BMG_DS043419,DOID:0110136 | OMIM ID:615991 | Bardet-Biedl Syndrome 14 | Bardet-Biedl syndrome 14 | MeSH ID:C567141 | MONDO:0014442 | UMLS ID:C2673874 +BMGC_DS12851,BMG_DS043420,UMLS ID:C2673883 | MONDO:0017417 | renal-hepatic-pancreatic dysplasia +BMGC_DS12852,BMG_DS043421,Meckel syndrome 7 | MeSH ID:C537756 | NPHP3-related Meckel-like syndrome | DOID:0070121 | MONDO:0009966 | OMIM ID:267010 | Renal hepatic pancreatic dysplasia Dandy Walker cyst | UMLS ID:C2673885 +BMGC_DS12853,BMG_DS043422,"MeSH ID:C567144 | MONDO:0000104 | anemia, hypochromic microcytic with iron overload | Anemia, Hypochromic Microcytic, With Iron Overload | UMLS ID:C2673913" +BMGC_DS12854,BMG_DS043423,"Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive | MeSH ID:C567145 | UMLS ID:C2673914" +BMGC_DS12855,BMG_DS043424,"Amelogenesis Imperfecta, Hypomaturation Type, Iia1 | OMIM ID:204700 | MONDO:0008772 | amelogenesis imperfecta type 2A1 | MeSH ID:C567146 | UMLS ID:C2673922" +BMGC_DS12856,BMG_DS043425,"OMIM ID:204650 | MONDO:0008770 | amelogenesis imperfecta type 1C | MeSH ID:C567147 | Amelogenesis Imperfecta, Type Ic | UMLS ID:C2673923" +BMGC_DS12857,BMG_DS043426,UMLS ID:C2673946 | MONDO:0044203 | foveal hypoplasia +BMGC_DS12858,BMG_DS043427,"Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma | MeSH ID:C536352 | UMLS ID:C2674009" +BMGC_DS12859,BMG_DS043428,UMLS ID:C2674026 | R BINDER DEFICIENCY WITH LACTOFERRIN DEFICIENCY | OMIM ID:193090 +BMGC_DS12860,BMG_DS043432,inflammatory bowel disease 11 | Inflammatory Bowel Disease 11 | DOID:0110894 | UMLS ID:C2674051 | OMIM ID:191390 | MeSH ID:C567154 | MONDO:0008617 +BMGC_DS12861,BMG_DS043435,MONDO:0014658 | SADDAN | UMLS ID:C2674173 | DOID:0111158 | OMIM ID:616482 | severe achondroplasia-developmental delay-acanthosis nigricans syndrome +BMGC_DS12862,BMG_DS043436,"Spherocytosis, Type 1 | UMLS ID:C2674218 | MONDO:0008447 | hereditary spherocytosis type 1 | MeSH ID:C567159 | OMIM ID:182900" +BMGC_DS12863,BMG_DS043437,"hereditary spherocytosis type 2 | UMLS ID:C2674219 | OMIM ID:616649 | SPHEROCYTOSIS, HEREDITARY, 2 | DOID:0110917 | MONDO:0000913" +BMGC_DS12864,BMG_DS043439,"MeSH ID:C567162 | Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber | UMLS ID:C2674259" +BMGC_DS12865,BMG_DS043440,"thrombophilia due to protein C deficiency, autosomal dominant | autosomal dominant thrombophilia due to protein C deficiency | OMIM ID:176860 | MONDO:0008316 | DOID:0111909 | Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant | MeSH ID:C567163 | UMLS ID:C2674321" +BMGC_DS12866,BMG_DS043444,"OMIM ID:MTHU021792 | Seizures, intractable | UMLS ID:C2674422" +BMGC_DS12867,BMG_DS043447,Palmoplantar Hyperkeratosis And True Hermaphroditism | MeSH ID:C567165 | UMLS ID:C2674504 +BMGC_DS12868,BMG_DS043448,"Aortic aneurysm, familial thoracic 3 | Loeys-Dietz syndrome 2 | UMLS ID:C2674574 | MONDO:0012427 | MeSH ID:C537783 | OMIM ID:610168" +BMGC_DS12869,BMG_DS043451,"MONDO:0012969 | OMIM ID:612633 | microvascular complications of diabetes, susceptibility to, 5 | UMLS ID:C2674665" +BMGC_DS12870,BMG_DS043453,"Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant | hypertrophic osteoarthropathy, primary, autosomal dominant | Osteoarthropathy, Primary Hypertrophic | MeSH ID:D010004 | OMIM ID:167100 | UMLS ID:C2674695 | MONDO:0008172" +BMGC_DS12871,BMG_DS043454,"Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy | multicentric carpotarsal osteolysis syndrome | MONDO:0008152 | UMLS ID:C2674705 | OMIM ID:166300 | multicentric carpo-tarsal osteolysis with or without nephropathy | MeSH ID:C567171 | DOID:0111534" +BMGC_DS12872,BMG_DS043456,MONDO:0013767 | autoimmune lymphoproliferative syndrome type 4 | OMIM ID:614470 | UMLS ID:C2674723 | RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER +BMGC_DS12873,BMG_DS043457,UMLS ID:C2674766 | Myokymia 1 | MeSH ID:C567174 +BMGC_DS12874,BMG_DS043458,OMIM ID:612731 | MeSH ID:C567176 | faciocardiomelic syndrome | UMLS ID:C2674798 | Faciocardiomelic Syndrome | MONDO:0012998 +BMGC_DS12875,BMG_DS043459,"OMIM ID:610251 | MONDO:0012454 | UMLS ID:C2674838 | alcohol sensitivity, acute" +BMGC_DS12876,BMG_DS043460,OMIM ID:609625 | Chromosome 10q26 Deletion Syndrome | MeSH ID:C567182 | DOID:0060390 | UMLS ID:C2674937 | distal 10q deletion syndrome | MONDO:0012315 +BMGC_DS12877,BMG_DS043461,MONDO:0012269 | MeSH ID:C567184 | DOID:0060419 | chromosome 3q29 microdeletion syndrome | Chromosome 3q29 Deletion Syndrome | UMLS ID:C2674949 | OMIM ID:609425 +BMGC_DS12878,BMG_DS043462,"OMIM ID:609222 | Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant | MeSH ID:C567185 | MONDO:0012218 | dandy-walker malformation with occipital cephalocele, autosomal dominant | UMLS ID:C2674987" +BMGC_DS12879,BMG_DS043463,DOID:0111526 | OMIM ID:158330 | mullerian aplasia and hyperandrogenism | MeSH ID:C567186 | UMLS ID:C2675014 | MONDO:0008019 | Mullerian aplasia and hyperandrogenism | Mullerian Aplasia and Hyperandrogenism +BMGC_DS12880,BMG_DS043465,Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus | MeSH ID:C567188 | UMLS ID:C2675066 +BMGC_DS12881,BMG_DS043468,"UMLS ID:C2675112 | microvascular complications of diabetes, susceptibility to, 4 | OMIM ID:612628 | MONDO:0012966" +BMGC_DS12882,BMG_DS043469,"UMLS ID:C2675128 | OMIM ID:612634 | MONDO:0012970 | microvascular complications of diabetes, susceptibility to, 6" +BMGC_DS12883,BMG_DS043470,"MONDO:0007802 | Hypospadias 3, Autosomal | MeSH ID:C567191 | OMIM ID:146450 | hypospadias 3, autosomal | UMLS ID:C2675154" +BMGC_DS12884,BMG_DS043471,UMLS ID:C2675179 | MeSH ID:C567192 | MONDO:0012996 | OMIM ID:612718 | AGAT deficiency | Arginine:Glycine Amidinotransferase Deficiency +BMGC_DS12885,BMG_DS043472,"Myopia 15 | OMIM ID:612717 | MONDO:0012995 | UMLS ID:C2675180 | myopia 15, autosomal dominant | MeSH ID:C567193" +BMGC_DS12886,BMG_DS043474,"UMLS ID:C2675184 | Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis | MONDO:0012992 | OMIM ID:612714 | MeSH ID:C567195 | pancreatic insufficiency-anemia-hyperostosis syndrome" +BMGC_DS12887,BMG_DS043475,Kahrizi syndrome | UMLS ID:C2675185 | MeSH ID:C567196 | MONDO:0012991 | DOID:0050807 | Kahrizi Syndrome | OMIM ID:612713 +BMGC_DS12888,BMG_DS043476,LEBER CONGENITAL AMAUROSIS 13 | UMLS ID:C2675186 | Leber congenital amaurosis 13 | OMIM ID:612712 | MONDO:0012990 | OMIM ID:608830 +BMGC_DS12889,BMG_DS043477,"OMIM ID:612703 | MeSH ID:C567198 | UMLS ID:C2675187 | MONDO:0012989 | microcephaly 7, primary, autosomal recessive | Microcephaly, Primary Autosomal Recessive, 7" +BMGC_DS12890,BMG_DS043479,"MeSH ID:C567201 | Polymicrogyria, Bilateral Occipital | UMLS ID:C2675191" +BMGC_DS12891,BMG_DS043480,"OMIM ID:612690 | UMLS ID:C2675192 | Spherocytosis, Type 5 | MONDO:0012985 | MeSH ID:C567202 | hereditary spherocytosis type 5" +BMGC_DS12892,BMG_DS043481,"PHARC syndrome | OMIM ID:612674 | UMLS ID:C2675204 | MONDO:0012984 | Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | MeSH ID:C567203" +BMGC_DS12893,BMG_DS043482,MeSH ID:C567206 | DOID:0111019 | MONDO:0012983 | OMIM ID:612657 | UMLS ID:C2675210 | cone-rod dystrophy 12 | Cone-Rod Dystrophy 12 +BMGC_DS12894,BMG_DS043483,"UMLS ID:C2675211 | OMIM ID:612656 | MONDO:0012982 | Episodic Ataxia, Type 6 | MeSH ID:C567207 | episodic ataxia type 6" +BMGC_DS12895,BMG_DS043484,"Spherocytosis, Type 4 | hereditary spherocytosis type 4 | OMIM ID:612653 | MONDO:0012981 | MeSH ID:C567208 | UMLS ID:C2675212" +BMGC_DS12896,BMG_DS043485,Endocrine-Cerebroosteodysplasia | endocrine-cerebro-osteodysplasia syndrome | MeSH ID:C567210 | MONDO:0012980 | UMLS ID:C2675227 | OMIM ID:612651 +BMGC_DS12897,BMG_DS043486,"UMLS ID:C2675228 | OMIM ID:612650 | primary ciliary dyskinesia 12 | MONDO:0012979 | CILIARY DYSKINESIA, PRIMARY, 12" +BMGC_DS12898,BMG_DS043487,"CILIARY DYSKINESIA, PRIMARY, 11 | MONDO:0012978 | UMLS ID:C2675229 | primary ciliary dyskinesia 11 | OMIM ID:612649" +BMGC_DS12899,BMG_DS043488,"OMIM ID:612645 | MeSH ID:C567213 | UMLS ID:C2675235 | MONDO:0012977 | Deafness, Autosomal Recessive 1b | autosomal recessive nonsyndromic hearing loss 1B" +BMGC_DS12900,BMG_DS043489,"UMLS ID:C2675236 | MeSH ID:C567214 | Deafness, Autosomal Dominant 2B | OMIM ID:612644 | autosomal dominant nonsyndromic hearing loss 2B | MONDO:0012976" +BMGC_DS12901,BMG_DS043490,"MeSH ID:C567215 | OMIM ID:612643 | MONDO:0012975 | UMLS ID:C2675237 | autosomal dominant nonsyndromic hearing loss 3B | Deafness, Autosomal Dominant 3B" +BMGC_DS12902,BMG_DS043491,"MeSH ID:C567216 | autosomal dominant nonsyndromic hearing loss 59 | UMLS ID:C2675238 | Deafness, Autosomal Dominant 59 | OMIM ID:612642 | MONDO:0012974" +BMGC_DS12903,BMG_DS043492,inflammatory bowel disease 26 | MeSH ID:C567217 | MONDO:0012973 | DOID:0110901 | OMIM ID:612639 | Inflammatory Bowel Disease 26 | UMLS ID:C2675249 +BMGC_DS12904,BMG_DS043496,Duplication 15q11-q13 Syndrome | 15q11q13 microduplication syndrome | OMIM ID:608636 | UMLS ID:C2675336 | MONDO:0012081 | MeSH ID:C557830 +BMGC_DS12905,BMG_DS043497,UMLS ID:C2675369 | OMIM ID:608363 | chromosome 22q11.2 microduplication syndrome | MeSH ID:C567224 | MONDO:0012020 | DOID:0060436 | Chromosome 22q11.2 Microduplication Syndrome +BMGC_DS12906,BMG_DS043498,UMLS ID:C2675370 | MeSH ID:C564254 | Capillary Malformation Without Arteriovenous Malformation +BMGC_DS12907,BMG_DS043499,OMIM ID:614101 | MONDO:0013575 | plasma fibronectin deficiency | UMLS ID:C2675436 +BMGC_DS12908,BMG_DS043500,MONDO:0100168 | Desmoid Tumor Caused By Somatic Mutation | UMLS ID:C2675440 | desmoid tumor caused by somatic mutation | MeSH ID:C535944 +BMGC_DS12909,BMG_DS043502,"hemolytic anemia due to adenylate kinase deficiency | UMLS ID:C2675459 | MONDO:0012967 | OMIM ID:612631 | MeSH ID:C567228 | Adenylate Kinase Deficiency, Hemolytic Anemia Due To" +BMGC_DS12910,BMG_DS043504,OMIM ID:612626 | MeSH ID:C567232 | MONDO:0012964 | chromosome 15q26-qter deletion syndrome | UMLS ID:C2675463 | DOID:0060397 | Chromosome 15q26-Qter Deletion Syndrome +BMGC_DS12911,BMG_DS043505,"UMLS ID:C2675470 | microvascular complications of diabetes, susceptibility to, 3 | MONDO:0012963 | OMIM ID:612624" +BMGC_DS12912,BMG_DS043506,"OMIM ID:612623 | MONDO:0012962 | microvascular complications of diabetes, susceptibility to, 2 | UMLS ID:C2675471" +BMGC_DS12913,BMG_DS043508,"MONDO:0012960 | intellectual disability, autosomal dominant 5 | UMLS ID:C2675473 | OMIM ID:612621" +BMGC_DS12914,BMG_DS043511,"OMIM ID:612595 | UMLS ID:C2675477 | multiple sclerosis, susceptibility to, 3 | MONDO:0012957" +BMGC_DS12915,BMG_DS043515,"UMLS ID:C2675481 | MONDO:0012953 | OMIM ID:612591 | colorectal cancer, susceptibility to, 10" +BMGC_DS12916,BMG_DS043520,Chromosome 6pter-P24 Deletion Syndrome | DOID:0060422 | UMLS ID:C2675486 | MONDO:0012948 | OMIM ID:612582 | MeSH ID:C567239 | chromosome 6pter-p24 deletion syndrome +BMGC_DS12917,BMG_DS043521,"MONDO:0012947 | intellectual disability, autosomal dominant 4 | UMLS ID:C2675487 | OMIM ID:612581" +BMGC_DS12918,BMG_DS043522,"UMLS ID:C2675488 | MONDO:0012946 | OMIM ID:612580 | intellectual disability, autosomal dominant 3" +BMGC_DS12919,BMG_DS043523,AMYOTROPHIC LATERAL SCLEROSIS 11 | OMIM ID:612577 | UMLS ID:C2675491 | DOID:0060202 | MONDO:0012945 | OMIM ID:609390 | amyotrophic lateral sclerosis type 11 +BMGC_DS12920,BMG_DS043524,"MONDO:0012944 | chromosome 17P13.3, telomeric, duplication syndrome | Split-Hand-Foot Malformation With Long Bone Deficiency 3 | MeSH ID:C567245 | OMIM ID:612576 | UMLS ID:C2675492" +BMGC_DS12921,BMG_DS043525,DOID:0110409 | UMLS ID:C2675496 | Retinitis Pigmentosa 46 | MONDO:0012943 | MeSH ID:C567249 | retinitis pigmentosa 46 | OMIM ID:612572 +BMGC_DS12922,BMG_DS043527,"DOID:0110909 | OMIM ID:612567 | MONDO:0012941 | inflammatory bowel disease 25 | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE | UMLS ID:C2675508" +BMGC_DS12923,BMG_DS043528,UMLS ID:C2675509 | MONDO:0012940 | OMIM ID:612566 | inflammatory bowel disease 24 | DOID:0110908 | Inflammatory Bowel Disease 24 | MeSH ID:C567252 +BMGC_DS12924,BMG_DS043529,OMIM ID:612563 | Diamond-Blackfan anemia 8 | UMLS ID:C2675511 | DOID:0111881 | MONDO:0012939 | Diamond-Blackfan Anemia 8 | MeSH ID:C567253 +BMGC_DS12925,BMG_DS043530,UMLS ID:C2675512 | Diamond-Blackfan Anemia 7 | OMIM ID:612562 | MONDO:0012938 | Diamond-Blackfan anemia 7 | MeSH ID:C567254 | DOID:0111878 +BMGC_DS12926,BMG_DS043534,Adiponectin Deficiency | MeSH ID:C567258 | UMLS ID:C2675518 +BMGC_DS12927,BMG_DS043535,Hypoadiponectinemia | MeSH ID:C567258 | UMLS ID:C2675519 +BMGC_DS12928,BMG_DS043536,"OMIM ID:612555 | MONDO:0012933 | breast-ovarian cancer, familial, susceptibility to, 2 | UMLS ID:C2675520" +BMGC_DS12929,BMG_DS043539,"UMLS ID:C2675525 | MONDO:0012931 | focal segmental glomerulosclerosis 4, susceptibility to | OMIM ID:612551" +BMGC_DS12930,BMG_DS043540,"UMLS ID:C2675527 | OMIM ID:612540 | Compton-North congenital myopathy | Myopathy, Congenital, Compton-North | MeSH ID:C567261 | MONDO:0012929" +BMGC_DS12931,BMG_DS043541,"OMIM ID:612539 | MeSH ID:C567262 | hereditary spastic paraplegia 42 | UMLS ID:C2675528 | Spastic Paraplegia 42, Autosomal Dominant | MONDO:0012928" +BMGC_DS12932,BMG_DS043542,"lumbar disk degeneration, susceptibility to | MONDO:0100206 | UMLS ID:C2675551" +BMGC_DS12933,BMG_DS043543,"UMLS ID:C2675552 | MeSH ID:C567263 | Retinitis Pigmentosa 7, Digenic" +BMGC_DS12934,BMG_DS043545,OMIM ID:608033 | UMLS ID:C2675556 | familial acute necrotizing encephalopathy | MONDO:0011953 +BMGC_DS12935,BMG_DS043547,MONDO:0011923 | osteoarthritis susceptibility 3 | UMLS ID:C2675609 | 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 | OMIM ID:127500 | MeSH ID:C567273 | UMLS ID:C2675711 | Dyschromatosis Universalis Hereditaria 1 | MONDO:0024524 +BMGC_DS12938,BMG_DS043553,"autosomal dominant deafness - onychodystrophy syndrome | OMIM ID:124480 | MONDO:0007420 | MeSH ID:C567274 | UMLS ID:C2675730 | Deafness, Congenital, and Onychodystrophy, Autosomal Dominant" +BMGC_DS12939,BMG_DS043554,"UMLS ID:C2675746 | MeSH ID:C567275 | OMIM ID:122860 | Craniodiaphyseal Dysplasia, Autosomal Dominant | craniodiaphyseal dysplasia, autosomal dominant | MONDO:0021021" +BMGC_DS12940,BMG_DS043555,"autosomal dominant nonsyndromic hearing loss 3A | Deafness, Autosomal Dominant 3A | MONDO:0011103 | UMLS ID:C2675750 | OMIM ID:601544 | MeSH ID:C567277" +BMGC_DS12941,BMG_DS043556,"UMLS ID:C2675767 | OMIM ID:614135 | OMIM ID:120210 | multiple epiphyseal dysplasia 6 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 | DOID:0070301 | epiphyseal dysplasia, multiple, 6 | MONDO:0013591" +BMGC_DS12942,BMG_DS043558,MONDO:0012927 | OMIM ID:612530 | MeSH ID:C567278 | UMLS ID:C2675857 | Holoprosencephaly 10 | chromosome 1q41-q42 deletion syndrome +BMGC_DS12943,BMG_DS043559,"UMLS ID:C2675858 | Amelogenesis Imperfecta, Hypomaturation Type, Iia2 | MeSH ID:C567279 | amelogenesis imperfecta hypomaturation type 2A2 | MONDO:0012926 | OMIM ID:612529" +BMGC_DS12944,BMG_DS043560,Diamond-Blackfan Anemia 5 | DOID:0111883 | UMLS ID:C2675859 | MeSH ID:C567280 | Diamond-Blackfan anemia 5 | MONDO:0012925 | OMIM ID:612528 +BMGC_DS12945,BMG_DS043561,Diamond-Blackfan Anemia 4 | DOID:0111890 | Diamond-Blackfan anemia 4 | UMLS ID:C2675860 | OMIM ID:612527 | MeSH ID:C567281 | MONDO:0012924 +BMGC_DS12946,BMG_DS043562,"Lipodystrophy, Congenital Generalized, Type 3 | MONDO:0012923 | congenital generalized lipodystrophy type 3 | OMIM ID:612526 | UMLS ID:C2675861 | MeSH ID:C567282" +BMGC_DS12947,BMG_DS043563,"pyloric stenosis, infantile hypertrophic, 5 | UMLS ID:C2675862 | MeSH ID:C567283 | OMIM ID:612525 | Pyloric Stenosis, Infantile Hypertrophic, 5 | MONDO:0012922" +BMGC_DS12948,BMG_DS043564,"MeSH ID:C567284 | UMLS ID:C2675864 | Diabetes Mellitus, Insulin-Dependent, 22 | OMIM ID:612522 | MONDO:0012921 | type 1 diabetes mellitus 22" +BMGC_DS12949,BMG_DS043566,"OMIM ID:612520 | MeSH ID:C567286 | UMLS ID:C2675866 | Diabetes Mellitus, Insulin-Dependent, 20 | MONDO:0012919 | type 1 diabetes mellitus 20" +BMGC_DS12950,BMG_DS043567,"MONDO:0012918 | OMIM ID:612518 | primary ciliary dyskinesia 10 | CILIARY DYSKINESIA, PRIMARY, 10 | UMLS ID:C2675867" +BMGC_DS12951,BMG_DS043568,MONDO:0012917 | MeSH ID:C567288 | Specific Language Impairment 4 | specific language impairment 4 | OMIM ID:612514 | UMLS ID:C2675874 +BMGC_DS12952,BMG_DS043569,Chromosome 2p16.1-P15 Deletion Syndrome | MeSH ID:C567289 | DOID:0060415 | chromosome 2p16.1-p15 deletion syndrome | OMIM ID:612513 | MONDO:0012916 | UMLS ID:C2675875 +BMGC_DS12953,BMG_DS043570,Chromosome 1q21.1 Duplication Syndrome | UMLS ID:C2675891 | OMIM ID:612475 | MONDO:0012915 | DOID:0060435 | chromosome 1q21.1 duplication syndrome | MeSH ID:C567290 +BMGC_DS12954,BMG_DS043571,MONDO:0012914 | OMIM ID:612474 | UMLS ID:C2675897 | chromosome 1q21.1 deletion syndrome +BMGC_DS12955,BMG_DS043572,"MONDO:0012913 | Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome | UMLS ID:C2675904 | MeSH ID:C567292 | OMIM ID:612469 | Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome" +BMGC_DS12956,BMG_DS043573,"schizophrenia, susceptibility to | MONDO:0100182 | UMLS ID:C2675945" +BMGC_DS12957,BMG_DS043576,"MONDO:0007272 | hereditary hypercarotenemia and vitamin A deficiency | Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant | UMLS ID:C2676023 | MeSH ID:C567296 | OMIM ID:115300" +BMGC_DS12958,BMG_DS043579,MeSH ID:C567302 | MONDO:0007110 | UMLS ID:C2676137 | OMIM ID:105650 | Diamond-Blackfan anemia 1 | DOID:0111895 | Diamond-Blackfan Anemia 1 +BMGC_DS12959,BMG_DS043581,MONDO:0017824 | UMLS ID:C2676191 | familial isolated pituitary adenoma +BMGC_DS12960,BMG_DS043584,"MONDO:0012909 | MeSH ID:C567306 | UMLS ID:C2676231 | Skeletal Defects, Genital Hypoplasia, And Mental Retardation | OMIM ID:612447 | skeletal defects, genital hypoplasia, and intellectual disability" +BMGC_DS12961,BMG_DS043585,MeSH ID:C567307 | complement component 6 deficiency | Complement Component 6 Deficiency | UMLS ID:C2676232 | DOID:0060299 | OMIM ID:612446 | MONDO:0012908 +BMGC_DS12962,BMG_DS043588,"primary ciliary dyskinesia 9 | UMLS ID:C2676235 | CILIARY DYSKINESIA, PRIMARY, 9 | OMIM ID:612444 | MONDO:0012906" +BMGC_DS12963,BMG_DS043589,"UMLS ID:C2676243 | leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | MeSH ID:C567313 | Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | MONDO:0011897 | OMIM ID:607694" +BMGC_DS12964,BMG_DS043590,"MeSH ID:C567314 | OMIM ID:612438 | hypomyelinating leukodystrophy 6 | UMLS ID:C2676244 | MONDO:0012905 | Leukodystrophy, Hypomyelinating, 6" +BMGC_DS12965,BMG_DS043591,"epilepsy, progressive myoclonic, 1B | MeSH ID:C580388 | UMLS ID:C2676254 | OMIM ID:612437 | Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia | MONDO:0012904" +BMGC_DS12966,BMG_DS043592,"MeSH ID:C567316 | OMIM ID:612422 | cardiomyopathy, familial restrictive, 3 | UMLS ID:C2676271 | Cardiomyopathy, Familial Restrictive, 3 | MONDO:0012900" +BMGC_DS12967,BMG_DS043595,"Dystonia 17, Torsion, Autosomal Recessive | MONDO:0012895 | UMLS ID:C2676281 | OMIM ID:612406 | MeSH ID:C567319 | torsion dystonia 17" +BMGC_DS12968,BMG_DS043596,"OMIM ID:612394 | bone fragility with contractures, arterial rupture, and deafness | Bone Fragility with Contractures, Arterial Rupture, and Deafness | MONDO:0012892 | MeSH ID:C567320 | UMLS ID:C2676285" +BMGC_DS12969,BMG_DS043597,OMIM ID:612390 | pontocerebellar hypoplasia type 2C | UMLS ID:C2676465 | MONDO:0012891 | DOID:0060269 | Pontocerebellar Hypoplasia Type 2C | MeSH ID:C567324 +BMGC_DS12970,BMG_DS043598,MeSH ID:C567325 | DOID:0060268 | UMLS ID:C2676466 | OMIM ID:612389 | MONDO:0012890 | pontocerebellar hypoplasia type 2B | Pontocerebellar Hypoplasia Type 2B +BMGC_DS12971,BMG_DS043600,"MONDO:0012888 | sarcoidosis, susceptibility to, 2 | UMLS ID:C2676468 | OMIM ID:612387" +BMGC_DS12972,BMG_DS043601,inflammatory bowel disease 23 | MONDO:0012887 | DOID:0110884 | MeSH ID:C567326 | Inflammatory Bowel Disease 23 | UMLS ID:C2676484 | OMIM ID:612381 +BMGC_DS12973,BMG_DS043602,MeSH ID:C567327 | MONDO:0012886 | inflammatory bowel disease 22 | Inflammatory Bowel Disease 22 | DOID:0110905 | UMLS ID:C2676485 | OMIM ID:612380 +BMGC_DS12974,BMG_DS043604,Cowden syndrome 2 | MeSH ID:C567337 | MONDO:0012878 | OMIM ID:612359 | Cowden-Like Syndrome | UMLS ID:C2676500 +BMGC_DS12975,BMG_DS043605,Inflammatory Bowel Disease 21 | MeSH ID:C567338 | DOID:0110906 | OMIM ID:612354 | UMLS ID:C2676507 | MONDO:0012875 | inflammatory bowel disease 21 +BMGC_DS12976,BMG_DS043606,"UMLS ID:C2676508 | Porokeratosis, Disseminated Superficial Actinic, 4 | MONDO:0012874 | porokeratosis 6, disseminated superficial actinic type | OMIM ID:612353 | MeSH ID:C567339" +BMGC_DS12977,BMG_DS043607,"Ehlers-Danlos syndrome, spondylocheirodysplastic type | Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like | OMIM ID:612350 | UMLS ID:C2676510 | MONDO:0012873 | MeSH ID:C567340" +BMGC_DS12978,BMG_DS043608,"MONDO:0011450 | OMIM ID:604370 | breast-ovarian cancer, familial, susceptibility to, 1 | UMLS ID:C2676676" +BMGC_DS12979,BMG_DS043610,"MeSH ID:C567341 | Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator | UMLS ID:C2676721 | thrombophilia, familial, due to decreased release of tissue plasminogen activator | DOID:0111906 | thrombophilia due to decreased release of PLAT | MONDO:0012872 | OMIM ID:612348" +BMGC_DS12980,BMG_DS043612,Jervell and Lange-Nielsen syndrome 2 | MeSH ID:C567343 | Jervell And Lange-Nielsen Syndrome 2 | OMIM ID:612347 | MONDO:0012871 | UMLS ID:C2676723 +BMGC_DS12981,BMG_DS043614,"UMLS ID:C2676727 | Chromosome 1q43-Q44 Deletion Syndrome | MONDO:0012869 | intellectual disability, autosomal dominant 22 | MeSH ID:C567346 | OMIM ID:612337" +BMGC_DS12982,BMG_DS043615,"MONDO:0012867 | MeSH ID:C567349 | hereditary spastic paraplegia 38 | Spastic Paraplegia 38, Autosomal Dominant | OMIM ID:612335 | UMLS ID:C2676732" +BMGC_DS12983,BMG_DS043616,chromosome 2q32-q33 deletion syndrome | MONDO:0012864 | MeSH ID:C567350 | UMLS ID:C2676739 | DOID:0060428 | Chromosome 2q32-Q33 Deletion Syndrome | SATB2-associated syndrome | OMIM ID:612313 +BMGC_DS12984,BMG_DS043619,Premature Ovarian Failure 6 | premature ovarian failure 6 | UMLS ID:C2676742 | OMIM ID:612310 | MeSH ID:C567351 | MONDO:0012861 +BMGC_DS12985,BMG_DS043620,"UMLS ID:C2676759 | OMIM ID:612304 | THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE | MONDO:0012860 | autosomal recessive thrombophilia due to protein C deficiency | DOID:0111904 | OMIM ID:612283 | thrombophilia due to protein C deficiency, autosomal recessive" +BMGC_DS12986,BMG_DS043621,"OMIM ID:612301 | UMLS ID:C2676766 | MONDO:0012859 | Osteopetrosis, Autosomal Recessive 7 | MeSH ID:C567354 | autosomal recessive osteopetrosis 7" +BMGC_DS12987,BMG_DS043622,UMLS ID:C2676767 | MONDO:0012858 | OMIM ID:612300 | CD59 Deficiency | MeSH ID:C567355 | primary CD59 deficiency +BMGC_DS12988,BMG_DS043624,MeSH ID:C567357 | DOID:0050675 | Birk-Barel syndrome | MONDO:0012856 | OMIM ID:612292 | Birk-Barel Mental Retardation Dysmorphism Syndrome | UMLS ID:C2676770 +BMGC_DS12989,BMG_DS043625,Joubert Syndrome 8 | DOID:0111003 | UMLS ID:C2676771 | MeSH ID:C567358 | Joubert syndrome 8 | MONDO:0012855 | OMIM ID:612291 +BMGC_DS12990,BMG_DS043626,"MONDO:0012854 | UMLS ID:C2676772 | OMIM ID:612290 | Microtia, Hearing Impairment, And Cleft Palate | bilateral microtia-deafness-cleft palate syndrome | MeSH ID:C567359" +BMGC_DS12991,BMG_DS043627,MONDO:0012853 | Fontaine progeroid syndrome | OMIM ID:608744 | OMIM ID:612289 | FONTAINE PROGEROID SYNDROME | OMIM ID:233500 | UMLS ID:C2676780 +BMGC_DS12992,BMG_DS043628,Inflammatory Bowel Disease 20 | MONDO:0012852 | inflammatory bowel disease 20 | MeSH ID:C567361 | DOID:0110898 | OMIM ID:612288 | UMLS ID:C2676781 +BMGC_DS12993,BMG_DS043629,"UMLS ID:C2676782 | hypophosphatemic nephrolithiasis/osteoporosis 2 | MeSH ID:C567362 | DOID:0080078 | Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 | MONDO:0012851 | OMIM ID:612287" +BMGC_DS12994,BMG_DS043630,"OMIM ID:612286 | MeSH ID:C567363 | DOID:0080077 | hypophosphatemic nephrolithiasis/osteoporosis 1 | UMLS ID:C2676786 | MONDO:0012850 | Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1" +BMGC_DS12995,BMG_DS043631,OMIM ID:612285 | MONDO:0012849 | DOID:0111004 | Joubert syndrome 9 | Joubert Syndrome 9 | MeSH ID:C567364 | UMLS ID:C2676788 +BMGC_DS12996,BMG_DS043632,"UMLS ID:C2676790 | MeSH ID:C567365 | Meckel Syndrome, Type 6 | OMIM ID:612284 | MONDO:0012848 | Meckel syndrome, type 6" +BMGC_DS12997,BMG_DS043633,"OMIM ID:603933 | MONDO:0011386 | microvascular complications of diabetes, susceptibility to, 1 | UMLS ID:C2676832" +BMGC_DS12998,BMG_DS043634,"UMLS ID:C2676840 | MONDO:0100202 | lumbar disk herniation, susceptibility to" +BMGC_DS12999,BMG_DS043635,"MONDO:0012847 | UMLS ID:C2677065 | OMIM ID:609383 | OMIM ID:612281 | autosomal recessive congenital ichthyosis 6 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6" +BMGC_DS13000,BMG_DS043637,MONDO:0012845 | UMLS ID:C2677079 | Inflammatory Bowel Disease 19 | inflammatory bowel disease 19 | OMIM ID:612278 | MeSH ID:C567372 | DOID:0110890 +BMGC_DS13001,BMG_DS043639,"MONDO:0012843 | OMIM ID:612269 | epilepsy, childhood absence, susceptibility to, 5 | UMLS ID:C2677087" +BMGC_DS13002,BMG_DS043641,UMLS ID:C2677090 | DOID:0110888 | MONDO:0012841 | Inflammatory Bowel Disease 18 | OMIM ID:612262 | inflammatory bowel disease 18 | MeSH ID:C567377 +BMGC_DS13003,BMG_DS043642,Inflammatory Bowel Disease 17 | MONDO:0012840 | DOID:0110883 | inflammatory bowel disease 17 | MeSH ID:C567378 | OMIM ID:612261 | UMLS ID:C2677091 +BMGC_DS13004,BMG_DS043643,MONDO:0012839 | UMLS ID:C2677092 | MYD88 Deficiency | MeSH ID:C567379 | pyogenic bacterial infections due to MyD88 deficiency | OMIM ID:612260 +BMGC_DS13005,BMG_DS043644,OMIM ID:612259 | Inflammatory Bowel Disease 16 | DOID:0110896 | MONDO:0012838 | inflammatory bowel disease 16 | UMLS ID:C2677093 | MeSH ID:C567380 +BMGC_DS13006,BMG_DS043645,inflammatory bowel disease 15 | OMIM ID:612255 | MONDO:0012837 | MeSH ID:C567381 | Inflammatory Bowel Disease 15 | UMLS ID:C2677094 | DOID:0110897 +BMGC_DS13007,BMG_DS043647,"UMLS ID:C2677096 | systemic lupus erythematosus, susceptibility to, 11 | MONDO:0012835 | OMIM ID:612253" +BMGC_DS13008,BMG_DS043648,"OMIM ID:612251 | systemic lupus erythematosus, susceptibility to, 10 | UMLS ID:C2677097 | MONDO:0012834" +BMGC_DS13009,BMG_DS043649,OMIM ID:612247 | Crouzon syndrome-acanthosis nigricans syndrome | UMLS ID:C2677099 | MONDO:0012833 +BMGC_DS13010,BMG_DS043650,inflammatory bowel disease 14 | UMLS ID:C2677100 | MONDO:0012832 | DOID:0110895 | Inflammatory Bowel Disease 14 | OMIM ID:612245 | MeSH ID:C567383 +BMGC_DS13011,BMG_DS043651,MONDO:0012831 | DOID:0110893 | OMIM ID:612244 | inflammatory bowel disease 13 | Inflammatory Bowel Disease 13 | MeSH ID:C567384 | UMLS ID:C2677101 +BMGC_DS13012,BMG_DS043653,MONDO:0012829 | inflammatory bowel disease 12 | MeSH ID:C567388 | UMLS ID:C2677105 | Inflammatory Bowel Disease 12 | OMIM ID:612241 | DOID:0110887 +BMGC_DS13013,BMG_DS043654,"UMLS ID:C2677106 | OMIM ID:612240 | MONDO:0012828 | MeSH ID:C567389 | Atrial Fibrillation, Familial, 7 | atrial fibrillation, familial, 7" +BMGC_DS13014,BMG_DS043657,"MeSH ID:C567390 | hypomyelinating leukodystrophy 4 | UMLS ID:C2677109 | Leukodystrophy, Hypomyelinating, 4 | OMIM ID:612233 | MONDO:0012824" +BMGC_DS13015,BMG_DS043658,"Leukodystrophy, hypomyelinating | OMIM ID:MTHU021394 | UMLS ID:C2677112" +BMGC_DS13016,BMG_DS043662,"colorectal cancer, susceptibility to, 3 | MONDO:0012820 | OMIM ID:612229 | UMLS ID:C2677123" +BMGC_DS13017,BMG_DS043664,MONDO:0012818 | UMLS ID:C2677132 | maturity-onset diabetes of the young type 9 | OMIM ID:612225 +BMGC_DS13018,BMG_DS043665,"OMIM ID:601927 | lymphedema-atrial septal defects-facial changes syndrome | MONDO:0011166 | MeSH ID:C567398 | Lymphedema, Cardiac Septal Defects, And Characteristic Facies | UMLS ID:C2677167" +BMGC_DS13019,BMG_DS043668,"MONDO:0012816 | OMIM ID:612201 | MeSH ID:C567400 | atrial fibrillation, familial, 6 | Atrial Fibrillation, Familial, 6 | UMLS ID:C2677294" +BMGC_DS13020,BMG_DS043669,Coats plus syndrome | UMLS ID:C2677299 | MONDO:0012815 +BMGC_DS13021,BMG_DS043670,Diastasis Recti And Weakness Of The Linea Alba | OMIM ID:612198 | UMLS ID:C2677303 | diastasis recti and weakness of the linea alba | MeSH ID:C567402 | MONDO:0012814 +BMGC_DS13022,BMG_DS043671,retinitis pigmentosa 29 | UMLS ID:C2677325 | MONDO:0012813 | DOID:0110378 | Retinitis Pigmentosa 29 | OMIM ID:612165 | MeSH ID:C567403 +BMGC_DS13023,BMG_DS043672,"UMLS ID:C2677326 | developmental and epileptic encephalopathy, 4 | MeSH ID:C567404 | Epileptic Encephalopathy, Early Infantile, 4 | OMIM ID:612164 | MONDO:0012812" +BMGC_DS13024,BMG_DS043675,"OMIM ID:612158 | MeSH ID:C567407 | MONDO:0012808 | Cardiomyopathy, Dilated, 1AA | dilated cardiomyopathy 1AA | UMLS ID:C2677338" +BMGC_DS13025,BMG_DS043676,"epidermolysis bullosa simplex 5C, with pyloric atresia | UMLS ID:C2677349 | MeSH ID:C567408 | MONDO:0012807 | OMIM ID:612138 | Epidermolysis Bullosa Simplex With Pyloric Atresia" +BMGC_DS13026,BMG_DS043677,OROFACIAL CLEFT 11 | UMLS ID:C2677434 | orofacial cleft 11 | OMIM ID:112262 | MONDO:0010906 | OMIM ID:600625 +BMGC_DS13027,BMG_DS043678,"MONDO:0012806 | Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant | MeSH ID:C567411 | ectodermal dysplasia and immunodeficiency 2 | UMLS ID:C2677481 | OMIM ID:612132" +BMGC_DS13028,BMG_DS043679,"UMLS ID:C2677491 | OMIM ID:600824 | hypertrophic cardiomyopathy 12 | OMIM ID:612124 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 | MONDO:0012804 | DOID:0110318" +BMGC_DS13029,BMG_DS043680,Oculoauricular Syndrome | UMLS ID:C2677500 | MeSH ID:C567416 | DOID:0060482 | OMIM ID:612109 | MONDO:0012802 | oculoauricular syndrome +BMGC_DS13030,BMG_DS043681,"autism, susceptibility to, 15 | UMLS ID:C2677504 | MONDO:0012801 | OMIM ID:612100" +BMGC_DS13031,BMG_DS043682,"UMLS ID:C2677505 | MeSH ID:C567418 | OMIM ID:612099 | Trichoepithelioma, Multiple Familial, 2 | MONDO:0012800 | trichoepithelioma, multiple familial, 2" +BMGC_DS13032,BMG_DS043683,"Cardiomyopathy, Familial Hypertrophic, 11 | MeSH ID:C567419 | UMLS ID:C2677506 | OMIM ID:612098 | hypertrophic cardiomyopathy 11 | MONDO:0012799" +BMGC_DS13033,BMG_DS043684,"MeSH ID:C567420 | deafness, unilateral, with delayed endolymphatic hydrops | UMLS ID:C2677512 | MONDO:0012798 | OMIM ID:612097 | Deafness, Unilateral, With Delayed Endolymphatic Hydrops" +BMGC_DS13034,BMG_DS043685,OMIM ID:612096 | MeSH ID:C567421 | otosclerosis 8 | MONDO:0012797 | UMLS ID:C2677515 | Otosclerosis 8 +BMGC_DS13035,BMG_DS043686,MeSH ID:C567422 | retinitis pigmentosa 41 | OMIM ID:612095 | UMLS ID:C2677516 | MONDO:0012796 | DOID:0110376 | Retinitis Pigmentosa 41 +BMGC_DS13036,BMG_DS043687,hypophosphatemic rickets and hyperparathyroidism | OMIM ID:612089 | MeSH ID:C567423 | UMLS ID:C2677524 | Hypophosphatemic Rickets And Hyperparathyroidism | MONDO:0012795 +BMGC_DS13037,BMG_DS043688,"OMIM ID:612079 | DOID:0112244 | MeSH ID:C567425 | UMLS ID:C2677535 | ANE syndrome | alopecia, neurologic defects, and endocrinopathy syndrome | Alopecia, Neurologic Defects, and Endocrinopathy Syndrome | MONDO:0012794" +BMGC_DS13038,BMG_DS043689,"MONDO:0012793 | Hypouricemia, Renal, 2 | hypouricemia, renal, 2 | OMIM ID:612076 | UMLS ID:C2677549 | MeSH ID:C567426" +BMGC_DS13039,BMG_DS043690,OMIM ID:612069 | UMLS ID:C2677565 | MONDO:0012790 | MeSH ID:C567429 | amyotrophic lateral sclerosis type 10 | Amyotrophic Lateral Sclerosis 10 +BMGC_DS13040,BMG_DS043691,dystonia 16 | OMIM ID:612067 | UMLS ID:C2677567 | MONDO:0012789 +BMGC_DS13041,BMG_DS043693,"MONDO:0012787 | OMIM ID:612020 | UMLS ID:C2677586 | MeSH ID:C567433 | hereditary spastic paraplegia 39 | Spastic Paraplegia 39, Autosomal Recessive" +BMGC_DS13042,BMG_DS043694,"MeSH ID:C567434 | UMLS ID:C2677587 | Cataract, Juvenile, With Microcornea And Glucosuria" +BMGC_DS13043,BMG_DS043696,"autosomal recessive ataxia due to ubiquinone deficiency | primary coenzyme Q10 deficiency 4 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 | DOID:0070241 | OMIM ID:612016 | UMLS ID:C2677589 | MONDO:0012784" +BMGC_DS13044,BMG_DS043697,"OMIM ID:612015 | UMLS ID:C2677590 | RFT1-congenital disorder of glycosylation | MeSH ID:C567437 | MONDO:0012783 | Congenital Disorder Of Glycosylation, Type In" +BMGC_DS13045,BMG_DS043698,"OMIM ID:612011 | MONDO:0012782 | celiac disease, susceptibility to, 13 | UMLS ID:C2677601" +BMGC_DS13046,BMG_DS043705,thrombocytopenia 4 | UMLS ID:C2677608 | Thrombocytopenia 4 | OMIM ID:612004 | MONDO:0012775 | MeSH ID:C567438 +BMGC_DS13047,BMG_DS043706,UMLS ID:C2677613 | DOID:0060394 | Chromosome 15q13.3 Microdeletion Syndrome | chromosome 15q13.3 microdeletion syndrome | MONDO:0012774 | MeSH ID:C567439 | OMIM ID:612001 +BMGC_DS13048,BMG_DS043707,schizophrenia 14 | DOID:0070090 | OMIM ID:612361 | MONDO:0012879 | SCHIZOPHRENIA 14 | UMLS ID:C2677614 +BMGC_DS13049,BMG_DS043708,"UMLS ID:C2677637 | MeSH ID:C567441 | MONDO:0010817 | OMIM ID:600101 | Deafness, Autosomal Dominant 2A | autosomal dominant nonsyndromic hearing loss 2A" +BMGC_DS13050,BMG_DS043709,"MeSH ID:C567442 | Rett Syndrome, Zappella Variant | UMLS ID:C2677682" +BMGC_DS13051,BMG_DS043711,Hunter-Macdonald syndrome | Hunter-Macdonald Syndrome | MeSH ID:C567445 | MONDO:0012773 | OMIM ID:611962 | UMLS ID:C2677745 +BMGC_DS13052,BMG_DS043712,OMIM ID:611961 | Stevenson-Carey syndrome | Stevenson-Carey Syndrome | MONDO:0012772 | MeSH ID:C567446 | UMLS ID:C2677763 +BMGC_DS13053,BMG_DS043713,"asthma-related traits, susceptibility to, 7 | UMLS ID:C2677770 | MONDO:0012771 | OMIM ID:611960" +BMGC_DS13054,BMG_DS043717,"MONDO:0012767 | MeSH ID:C567450 | age related macular degeneration 11 | UMLS ID:C2677774 | OMIM ID:611953 | Macular Degeneration, Age-Related, 11" +BMGC_DS13055,BMG_DS043720,MeSH ID:C567453 | MONDO:0012764 | Riddle Syndrome | UMLS ID:C2677792 | OMIM ID:611943 | RIDDLE syndrome | DOID:0090113 +BMGC_DS13056,BMG_DS043721,"MONDO:0800279 | epilepsy, idiopathic generalized, susceptibility to, 6 | UMLS ID:C2677793" +BMGC_DS13057,BMG_DS043722,MONDO:0012762 | catecholaminergic polymorphic ventricular tachycardia 2 | UMLS ID:C2677794 | OMIM ID:611938 +BMGC_DS13058,BMG_DS043724,"camptodactyly syndrome, Guadalajara type 3 | MONDO:0012759 | UMLS ID:C2677809 | OMIM ID:611929 | MeSH ID:C567455 | Camptodactyly Syndrome, Guadalajara, Type III" +BMGC_DS13059,BMG_DS043725,"UMLS ID:C2677821 | OMIM ID:611928 | prostate cancer, hereditary, 13 | MONDO:0012758" +BMGC_DS13060,BMG_DS043726,"episodic ataxia type 7 | MONDO:0012755 | MeSH ID:C567459 | UMLS ID:C2677843 | Episodic Ataxia, Type 7 | OMIM ID:611907" +BMGC_DS13061,BMG_DS043727,"MeSH ID:C567461 | OMIM ID:300770 | Surfactant Metabolism Dysfunction, Pulmonary, 4 | MONDO:0010424 | UMLS ID:C2677877 | surfactant metabolism dysfunction, pulmonary, 4" +BMGC_DS13062,BMG_DS043728,"MONDO:0010423 | OMIM ID:300758 | UMLS ID:C2677879 | hypospadias 2, X-linked | Hypospadias 2, X-Linked | MeSH ID:C567462" +BMGC_DS13063,BMG_DS043730,"MeSH ID:C567464 | OMIM ID:300752 | UMLS ID:C2677889 | Protoporphyria, Erythropoietic, X-Linked Dominant | X-linked erythropoietic protoporphyria | MONDO:0010420" +BMGC_DS13064,BMG_DS043731,"Spastic Paraplegia 34, X-Linked | MONDO:0010418 | UMLS ID:C2677897 | MeSH ID:C567465 | OMIM ID:300750 | hereditary spastic paraplegia 34" +BMGC_DS13065,BMG_DS043732,OMIM ID:300749 | Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia | MeSH ID:C567466 | UMLS ID:C2677903 | syndromic X-linked intellectual disability Najm type | MONDO:0010417 +BMGC_DS13066,BMG_DS043733,"MONDO:0010416 | UMLS ID:C2678011 | deafness, cataract, retinitis pigmentosa, and sperm abnormalities | MeSH ID:C567467 | Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities | OMIM ID:300719" +BMGC_DS13067,BMG_DS043734,"Myopathy, Reducing Body, X-Linked, Childhood-Onset | MeSH ID:C567468 | UMLS ID:C2678015" +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 | OMIM ID:300716 | intellectual disability, X-linked 95 | MONDO:0010413" +BMGC_DS13070,BMG_DS043737,Craniofacioskeletal Syndrome | X-linked intellectual disability-craniofacioskeletal syndrome | MONDO:0010412 | OMIM ID:300712 | MeSH ID:C567471 | UMLS ID:C2678036 +BMGC_DS13071,BMG_DS043740,UMLS ID:C2678039 | MONDO:0010409 | OMIM ID:300709 | syndromic X-linked intellectual disability Shrimpton type +BMGC_DS13072,BMG_DS043741,"TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS | UMLS ID:C2678045 | MONDO:0010408 | OMIM ID:300707 | syndactyly-telecanthus-anogenital and renal malformations syndrome | DOID:0111931" +BMGC_DS13073,BMG_DS043742,"intellectual disability, X-linked syndromic, Turner type | MONDO:0010407 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | OMIM ID:309590 | UMLS ID:C2678046 | OMIM ID:300697 | OMIM ID:300706 | OMIM ID:300612" +BMGC_DS13074,BMG_DS043744,"X-linked spinocerebellar ataxia 5 | Spinocerebellar Ataxia, X-Linked 5 | UMLS ID:C2678048 | OMIM ID:300703 | DOID:0111833 | MeSH ID:C567478 | MONDO:0010404 | X-linked non progressive cerebellar ataxia" +BMGC_DS13075,BMG_DS043745,"syndromic X-linked intellectual disability 94 | UMLS ID:C2678051 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE | OMIM ID:300699 | MONDO:0010402" +BMGC_DS13076,BMG_DS043746,"MONDO:0010401 | Myopathy, X-Linked, With Postural Muscle Atrophy | X-Linked Emery-Dreifuss Muscular Dystrophy | X-linked myopathy with postural muscle atrophy | UMLS ID:C2678055 | OMIM ID:300696 | MeSH ID:D000083143" +BMGC_DS13077,BMG_DS043747,"SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT | UMLS ID:C2678061 | MONDO:0010400 | OMIM ID:300695 | OMIM ID:300163 | X-linked scapuloperoneal muscular dystrophy" +BMGC_DS13078,BMG_DS043748,MeSH ID:C580316 | myofibrillar myopathy | Myofibrillar Myopathy | DOID:0080307 | MONDO:0018943 | UMLS ID:C2678065 +BMGC_DS13079,BMG_DS043749,"MeSH ID:C567482 | hypospadias 1, X-linked | OMIM ID:300633 | MONDO:0010384 | UMLS ID:C2678098 | Hypospadias 1, X-Linked" +BMGC_DS13080,BMG_DS043750,MeSH ID:C548481 | UMLS ID:C2678104 | Periventricular Laminar Heterotopia +BMGC_DS13081,BMG_DS043753,"UMLS ID:C2678194 | OMIM ID:300231 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | Christianson syndrome | MONDO:0010278 | OMIM ID:300243" +BMGC_DS13082,BMG_DS043754,"OMIM ID:300123 | UMLS ID:C2678223 | MONDO:0010252 | Mental Retardation, X-Linked, With Panhypopituitarism | MeSH ID:C567485 | intellectual disability, X-linked, with panhypopituitarism" +BMGC_DS13083,BMG_DS043756,"UMLS ID:C2678266 | MeSH ID:C567486 | OMIM ID:277350 | MONDO:0010182 | Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive | hypercarotenemia and vitamin A deficiency, autosomal recessive" +BMGC_DS13084,BMG_DS043757,UMLS ID:C2678311 | MeSH ID:C567487 | thrombocytopenia 3 | OMIM ID:273900 | Thrombocytopenia 3 | MONDO:0010120 +BMGC_DS13085,BMG_DS043758,OMIM ID:273750 | MeSH ID:C535314 | UMLS ID:C2678312 | MONDO:0010117 | 3M syndrome 1 | Three M Syndrome 1 +BMGC_DS13086,BMG_DS043759,"Spherocytosis, Type 3 | MONDO:0010053 | OMIM ID:270970 | MeSH ID:C567489 | UMLS ID:C2678338 | hereditary spherocytosis type 3" +BMGC_DS13087,BMG_DS043761,"UV-induced skin damage, susceptibility to | MONDO:0800410 | UMLS ID:C2678403" +BMGC_DS13088,BMG_DS043762,"MONDO:0009880 | OMIM ID:262700 | UMLS ID:C2678408 | short stature-pituitary and cerebellar defects-small sella turcica syndrome | PITUITARY HORMONE DEFICIENCY, COMBINED, 4 | DOID:0061017 | OMIM ID:602146 | combined pituitary hormone deficiency 4" +BMGC_DS13089,BMG_DS043764,"Hyperphenylalaninemia, Non-Pku Mild | UMLS ID:C2678416 | MeSH ID:C567494" +BMGC_DS13090,BMG_DS043765,OMIM ID:259100 | OMIM ID:601688 | UMLS ID:C2678439 | CRANIOOSTEOARTHROPATHY | MONDO:0015466 | cranio-osteoarthropathy +BMGC_DS13091,BMG_DS043766,Nanophthalmos 3 | UMLS ID:C2678467 | MONDO:0012754 | OMIM ID:611897 | MeSH ID:C567498 | nanophthalmos 3 +BMGC_DS13092,BMG_DS043767,UMLS ID:C2678468 | MeSH ID:C567499 | MONDO:0012753 | OMIM ID:611895 | amyotrophic lateral sclerosis type 9 | Amyotrophic Lateral Sclerosis 9 +BMGC_DS13093,BMG_DS043770,UMLS ID:C2678471 | MeSH ID:C567502 | Lethal Arthrogryposis With Anterior Horn Cell Disease +BMGC_DS13094,BMG_DS043772,"MONDO:0012748 | UMLS ID:C2678473 | primary ciliary dyskinesia 7 | OMIM ID:611884 | Ciliary Dyskinesia, Primary, 7 | MeSH ID:C567504" +BMGC_DS13095,BMG_DS043773,"Cardiomyopathy, Dilated, 2a | OMIM ID:611880 | UMLS ID:C2678474 | MeSH ID:C567505 | MONDO:0012746 | dilated cardiomyopathy 2A" +BMGC_DS13096,BMG_DS043774,"Cardiomyopathy, Dilated, 1z | UMLS ID:C2678475 | MONDO:0012745 | MeSH ID:C567506 | OMIM ID:611879 | dilated cardiomyopathy 1Z" +BMGC_DS13097,BMG_DS043775,"dilated cardiomyopathy 1Y | OMIM ID:611878 | MONDO:0012744 | UMLS ID:C2678476 | Cardiomyopathy, Dilated, 1y | MeSH ID:C567507" +BMGC_DS13098,BMG_DS043776,MeSH ID:C567508 | UMLS ID:C2678477 | MONDO:0012743 | Brugada syndrome 4 | DOID:0110221 | OMIM ID:611876 | Brugada Syndrome 4 +BMGC_DS13099,BMG_DS043777,UMLS ID:C2678478 | Brugada Syndrome 3 | OMIM ID:611875 | MeSH ID:C567509 | DOID:0110220 | Brugada syndrome 3 | MONDO:0012742 +BMGC_DS13100,BMG_DS043778,"OMIM ID:611868 | UMLS ID:C2678479 | prostate cancer, hereditary, 12 | MONDO:0012741" +BMGC_DS13101,BMG_DS043779,"MONDO:0012740 | DOID:0060413 | chromosome 22q11.2 deletion syndrome, distal | UMLS ID:C2678480 | MeSH ID:C567511 | Chromosome 22q11.2 Deletion Syndrome, Distal | OMIM ID:611867" +BMGC_DS13102,BMG_DS043780,OMIM ID:611863 | MeSH ID:C567512 | MONDO:0012739 | Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma | UMLS ID:C2678482 | microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome +BMGC_DS13103,BMG_DS043781,Long Qt Syndrome 11 | long QT syndrome 11 | MeSH ID:C567513 | UMLS ID:C2678483 | OMIM ID:611820 | DOID:0110652 | MONDO:0012738 +BMGC_DS13104,BMG_DS043782,MeSH ID:C567514 | Long Qt Syndrome 10 | OMIM ID:611819 | UMLS ID:C2678484 | DOID:0110651 | long QT syndrome 10 | MONDO:0012737 +BMGC_DS13105,BMG_DS043783,MONDO:0012736 | Long Qt Syndrome 9 | MeSH ID:C567515 | OMIM ID:611818 | DOID:0110650 | UMLS ID:C2678485 | long QT syndrome 9 +BMGC_DS13106,BMG_DS043784,MeSH ID:C567516 | Temple-Baraitser Syndrome | UMLS ID:C2678486 | MONDO:0012735 | OMIM ID:611816 | Temple-Baraitser syndrome +BMGC_DS13107,BMG_DS043785,"Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs | SERKAL syndrome | OMIM ID:611812 | MONDO:0012734 | UMLS ID:C2678492 | MeSH ID:C567517" +BMGC_DS13108,BMG_DS043786,"UMLS ID:C2678494 | OMIM ID:611808 | MeSH ID:C567519 | tremor, hereditary essential, and idiopathic normal pressure hydrocephalus | Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus | MONDO:0012732" +BMGC_DS13109,BMG_DS043787,Elliptocytosis 1 | UMLS ID:C2678497 | MeSH ID:C567520 | MONDO:0012731 | OMIM ID:611804 | elliptocytosis 1 +BMGC_DS13110,BMG_DS043788,"UMLS ID:C2678503 | OMIM ID:601090 | AXENFELD-RIEGER SYNDROME, TYPE 3 | Axenfeld-Rieger syndrome type 3 | OMIM ID:602482 | MONDO:0011233" +BMGC_DS13111,BMG_DS043789,"MONDO:0014024 | UMLS ID:C2680446 | OMIM ID:614297 | SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE | OMIM ID:615043 | hereditary spastic paraplegia 43" +BMGC_DS13112,BMG_DS043790,"UMLS ID:C2681535 | HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 1 | OMIM ID:614233" +BMGC_DS13113,BMG_DS043791,MeSH ID:C567523 | DOID:0110415 | retinitis pigmentosa 2 | UMLS ID:C2681923 | OMIM ID:312600 | MONDO:0010723 | Retinitis Pigmentosa 2 +BMGC_DS13114,BMG_DS043792,"UMLS ID:C2684859 | aplastic anemia, susceptibility to | MONDO:0800414" +BMGC_DS13115,BMG_DS043793,"MONDO:0008399 | UMLS ID:C2697310 | OMIM ID:181000 | sarcoidosis, susceptibility to, 1" +BMGC_DS13116,BMG_DS043794,"UMLS ID:C2697358 | 46,XY ovotesticular disorder of sex development | MONDO:0017968" +BMGC_DS13117,BMG_DS043796,MONDO:0008096 | nevus flammeus of nape of neck | OMIM ID:163100 | UMLS ID:C2697447 +BMGC_DS13118,BMG_DS043797,Loeys-Dietz Syndrome | UMLS ID:C2697932 | Loeys-Dietz syndrome | DOID:0050466 | MONDO:0018954 | MeSH ID:D055947 +BMGC_DS13119,BMG_DS043798,MONDO:0035943 | DOID:0080646 | UMLS ID:C2698311 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy +BMGC_DS13120,BMG_DS043799,MONDO:0035944 | DOID:0080647 | UMLS ID:C2698312 | B-lymphoblastic leukemia/lymphoma with hypodiploidy +BMGC_DS13121,BMG_DS043800,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | MONDO:0035605 | UMLS ID:C2698313 +BMGC_DS13122,BMG_DS043801,MONDO:0600030 | UMLS ID:C2698315 | B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) +BMGC_DS13123,BMG_DS043805,MONDO:0017449 | UMLS ID:C2699510 | split hand +BMGC_DS13124,BMG_DS043807,MONDO:0021651 | DOID:0060242 | UMLS ID:C2699746 | synpolydactyly +BMGC_DS13125,BMG_DS043811,UMLS ID:C2700265 | MONDO:0019517 | Waardenburg syndrome type 2 +BMGC_DS13126,BMG_DS043812,"UMLS ID:C2700405 | OMIM ID:611584 | MONDO:0012698 | DOID:0110956 | WAARDENBURG SYNDROME, TYPE IIE | Waardenburg syndrome type 2E" +BMGC_DS13127,BMG_DS043813,"scoliosis, isolated, susceptibility to, 1 | UMLS ID:C2700406 | OMIM ID:181800 | MONDO:0008419" +BMGC_DS13128,BMG_DS043814,"EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE | DOID:0080733 | OMIM ID:604539 | Ehlers-Danlos syndrome, dermatosparaxis type | MONDO:0009161 | UMLS ID:C2700425 | Ehlers-Danlos syndrome dermatosparaxis type | OMIM ID:225410" +BMGC_DS13129,BMG_DS043815,"UMLS ID:C2700426 | MONDO:0011622 | OMIM ID:605990 | nephrolithiasis, uric acid, susceptibility to" +BMGC_DS13130,BMG_DS043816,MONDO:0012881 | UMLS ID:C2700438 | OMIM ID:612371 | major affective disorder 7 +BMGC_DS13131,BMG_DS043819,UMLS ID:C2700553 | OMIM ID:603554 | Omenn Syndrome | MeSH ID:D016511 | Omenn syndrome | MONDO:0011338 | Severe Combined Immunodeficiency +BMGC_DS13132,BMG_DS043842,Influenza caused by Influenza A virus | Influenza caused by Influenza A virus (disorder) | UMLS ID:C2711180 | SNOMEDCT ID:442438000 +BMGC_DS13133,BMG_DS043846,Steatohepatitis | SNOMEDCT ID:442191002 | UMLS ID:C2711227 | MeSH ID:D005234 | Steatohepatitis (disorder) | fatty liver disease | MONDO:0004790 | Fatty Liver +BMGC_DS13134,BMG_DS043852,UMLS ID:C2711248 | MONDO:0018378 | osteonecrosis of the jaw +BMGC_DS13135,BMG_DS043853,Ischemic priapism (disorder) | SNOMEDCT ID:441575009 | Veno-occlusive priapism | Ischemic priapism | Ischaemic priapism | Low flow priapism | UMLS ID:C2711256 +BMGC_DS13136,BMG_DS043888,Combined immunodeficiency disease (disorder) | combined immunodeficiency | Combined immunodeficiency disease | SNOMEDCT ID:442459007 | MONDO:0015131 | combined T cell and B cell immunodeficiency | DOID:628 | UMLS ID:C2711630 +BMGC_DS13137,BMG_DS043890,Epilepsy characterised by intractable complex partial seizures | SNOMEDCT ID:442481002 | Epilepsy characterized by intractable complex partial seizures | Epilepsy characterized by intractable complex partial seizures (disorder) | UMLS ID:C2711653 +BMGC_DS13138,BMG_DS043904,Lateral cystocele (disorder) | DOID:14130 | MONDO:0001885 | lateral cystocele | Lateral cystocele | UMLS ID:C2711750 | SNOMEDCT ID:441891001 +BMGC_DS13139,BMG_DS043929,ICD10 ID:M10 | Gout attack | UMLS ID:C2712871 +BMGC_DS13140,BMG_DS043934,"UMLS ID:C2713319 | Arylsulfatase A Deficiency | Leukodystrophy, Metachromatic | MeSH ID:D007966" +BMGC_DS13141,BMG_DS043935,UMLS ID:C2713321 | Mucopolysaccharidosis I | MeSH ID:D008059 | alpha-L-Iduronidase Deficiency +BMGC_DS13142,BMG_DS043936,MeSH ID:D019082 | 7-Dehydrocholesterol Reductase Deficiency | Smith-Lemli-Opitz Syndrome | UMLS ID:C2713347 +BMGC_DS13143,BMG_DS043937,UMLS ID:C2713368 | myelodysplastic syndrome | DOID:0050908 +BMGC_DS13144,BMG_DS043938,"Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency | Oculocerebrorenal Syndrome | MeSH ID:D009800 | UMLS ID:C2713392" +BMGC_DS13145,BMG_DS043939,Haim-Monk Syndrome | Papillon-Lefevre Disease | MeSH ID:D010214 | UMLS ID:C2713394 +BMGC_DS13146,BMG_DS043940,"Polyposis, Adenomatous Intestinal | Adenomatous Polyposis Coli | MONDO:0021056 | MeSH ID:D011125 | familial adenomatous polyposis 1 | UMLS ID:C2713442 | OMIM ID:175100" +BMGC_DS13147,BMG_DS043941,Familial Intestinal Polyposis | MeSH ID:D011125 | Adenomatous Polyposis Coli | UMLS ID:C2713443 +BMGC_DS13148,BMG_DS043942,"Pseudohypoaldosteronism | MeSH ID:D011546 | Hyperpotassemia and Hypertension, Familial | UMLS ID:C2713447" +BMGC_DS13149,BMG_DS043943,Sandhoff Disease | UMLS ID:C2713499 | MeSH ID:D012497 | Total Hexosaminidase Deficiency +BMGC_DS13150,BMG_DS043944,MeSH ID:D001606 | Bernard-Soulier Syndrome | Deficiency of Platelet Glycoprotein 1b | UMLS ID:C2713537 +BMGC_DS13151,BMG_DS043945,MeSH ID:D013734 | UMLS ID:C2713546 | Androgen-Insensitivity Syndrome | Androgen Receptor Deficiency +BMGC_DS13152,BMG_DS043949,UMLS ID:C2717750 | MeSH ID:D055652 | Platelet alpha-Granule Deficiency | Gray Platelet Syndrome +BMGC_DS13153,BMG_DS043952,"MeSH ID:D016114 | UMLS ID:C2717836 | Ichthyosis, X-Linked | Steroid Sulfatase Deficiency Disease" +BMGC_DS13154,BMG_DS043953,"Drug-Induced Liver Injury, Chronic | MeSH ID:D056487 | UMLS ID:C2717837 | Chemical and Drug Induced Liver Injury, Chronic" +BMGC_DS13155,BMG_DS043954,Encapsulating Peritoneal Sclerosis | Peritoneal Fibrosis | MeSH ID:D056627 | UMLS ID:C2717860 +BMGC_DS13156,BMG_DS043958,propionic acidemia | Propionic Aciduria | UMLS ID:C2717876 | MeSH ID:D056693 | DOID:14701 | Propionic Acidemia +BMGC_DS13157,BMG_DS043959,"Autoimmune Lymphoproliferative Syndrome | autoimmune lymphoproliferative syndrome | Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant | MONDO:0017979 | UMLS ID:C2717884 | MeSH ID:D056735" +BMGC_DS13158,BMG_DS043960,UMLS ID:C2717905 | MeSH ID:D056829 | Hereditary Angioedema Types I and II +BMGC_DS13159,BMG_DS043961,MONDO:0015053 | hereditary angioedema type 1 | UMLS ID:C2717906 | Hereditary Angioedema Types I and II | Hereditary Angioedema Type I | MeSH ID:D056829 +BMGC_DS13160,BMG_DS043962,MeSH ID:D056830 | UMLS ID:C2717907 | Isolated Noncompaction of the Ventricular Myocardium +BMGC_DS13161,BMG_DS043966,Thrombotic Microangiopathies | MeSH ID:D057049 | MONDO:0019737 | thrombotic microangiopathy | UMLS ID:C2717961 +BMGC_DS13162,BMG_DS043972,"Alcoholic Steatohepatitis | UMLS ID:C2718067 | MeSH ID:D005235 | Fatty Liver, Alcoholic" +BMGC_DS13163,BMG_DS043973,"UMLS ID:C2718068 | MeSH ID:D016537 | beta-Galactosidase Deficiency | Gangliosidosis, GM1" +BMGC_DS13164,BMG_DS043974,"Porphyria, Erythropoietic | MeSH ID:D017092 | Deficiency of Uroporphyrinogen III Synthase | UMLS ID:C2718078" +BMGC_DS13165,BMG_DS043976,MeSH ID:D016532 | UMLS ID:C2718304 | Sulfoiduronate Sulfatase Deficiency | Mucopolysaccharidosis II +BMGC_DS13166,BMG_DS043977,"MeSH ID:D016114 | Placental Steroid Sulfatase Deficiency | Ichthyosis, X-Linked | UMLS ID:C2720163" +BMGC_DS13167,BMG_DS043978,"UMLS ID:C2720289 | ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | OMIM ID:305900 | DOID:0051003 | MONDO:0010480 | OMIM ID:300908 | anemia, nonspherocytic hemolytic, due to G6PD deficiency | congenital nonspherocytic hemolytic anemia 1" +BMGC_DS13168,BMG_DS043979,Pleural thickening | Fibrosis of pleura (disorder) | SNOMEDCT ID:442110002 | Thickening of pleura (disorder) | Pleural fibrosis | Thickening of pleura | Pleural cuirasse | UMLS ID:C2720436 | Fibrosis of pleura | SNOMEDCT ID:73725006 +BMGC_DS13169,BMG_DS043996,Auditory neuropathy with dys-synchrony | Auditory neuropathy spectrum disorder | UMLS ID:C2732267 | SNOMEDCT ID:443805006 | Auditory neuropathy spectrum disorder (disorder) +BMGC_DS13170,BMG_DS044037,Cerebral Small Vessel Diseases | MeSH ID:D059345 | UMLS ID:C2733158 +BMGC_DS13171,BMG_DS044060,Pulmonary Mycobacterium avium complex infection | UMLS ID:C2733595 | Pulmonary Mycobacterium avium-intracellulare infection | Pulmonary Mycobacterium avium complex infection (disorder) | SNOMEDCT ID:186342000 +BMGC_DS13172,BMG_DS044061,SNOMEDCT ID:443700006 | Disorder of lumbar disc (disorder) | Disorder of lumbar disc | UMLS ID:C2733598 +BMGC_DS13173,BMG_DS044069,DOID:0050661 | Vitelliform Macular Dystrophy | MONDO:0007931 | vitelliform macular dystrophy 2 | UMLS ID:C2745945 | vitelliform macular dystrophy | Juvenile-Onset Vitelliform Macular Dystrophy | OMIM ID:153700 | MeSH ID:D057826 +BMGC_DS13174,BMG_DS044070,"MONDO:0016071 | UMLS ID:C2745948 | DOID:0111669 | juvenile hyaline fibromatosis | MeSH ID:D057770 | hyaline fibromatosis syndrome | Hyaline Fibromatosis Syndrome | Hyalinosis, Systemic" +BMGC_DS13175,BMG_DS044071,MONDO:0031169 | MeSH ID:C535792 | Spondylometaphyseal dysplasia with dentinogenesis imperfecta | UMLS ID:C2745953 | odontochondrodysplasia +BMGC_DS13176,BMG_DS044072,spondyloepiphyseal dysplasia congenita | UMLS ID:C2745959 | MONDO:0008471 | OMIM ID:183900 +BMGC_DS13177,BMG_DS044074,MONDO:0005610 | UMLS ID:C2745963 | Kashin-Beck Disease | MeSH ID:D057767 | Kashin-Beck disease +BMGC_DS13178,BMG_DS044075,UMLS ID:C2745996 | Fitzsimmons-McLachlan-Gilbert syndrome | paraplegia-intellectual disability-hyperkeratosis syndrome | MONDO:0010662 | MeSH ID:C537058 | OMIM ID:309560 +BMGC_DS13179,BMG_DS044076,DOID:0060376 | MONDO:0010176 | UMLS ID:C2745997 | OMIM ID:614571 | OROFACIODIGITAL SYNDROME VI | OMIM ID:277170 | Joubert syndrome with orofaciodigital defect | orofaciodigital syndrome type 6 +BMGC_DS13180,BMG_DS044077,MeSH ID:C535306 | 2-Hydroxyglutaricaciduria | MONDO:0016001 | DOID:0050573 | 2-hydroxyglutaric aciduria | UMLS ID:C2746066 +BMGC_DS13181,BMG_DS044079,"MeSH ID:C535532 | MONDO:0010232 | UMLS ID:C2746068 | OMIM ID:300048 | intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | Congenital idiopathic intestinal pseudoobstruction" +BMGC_DS13182,BMG_DS044080,isolated ectopia lentis | UMLS ID:C2746069 | Familial ectopia lentis | MeSH ID:C536184 | DOID:0111148 +BMGC_DS13183,BMG_DS044081,"OMIM ID:613079 | UMLS ID:C2746083 | Deafness, Autosomal Recessive 77 | MONDO:0013119 | autosomal recessive nonsyndromic hearing loss 77 | MeSH ID:C567543" +BMGC_DS13184,BMG_DS044083,Cronobacter Infections | UMLS ID:C2747880 | MeSH ID:D004756 | Enterobacteriaceae Infections +BMGC_DS13185,BMG_DS044086,Sensorineural Deafness With Mild Renal Dysfunction | UMLS ID:C2748440 | MeSH ID:C567544 +BMGC_DS13186,BMG_DS044088,"UMLS ID:C2748501 | OMIM ID:602068 | MONDO:0011179 | leishmaniasis, tegumentary, susceptibility to" +BMGC_DS13187,BMG_DS044089,"posterior amorphous corneal dystrophy | OMIM ID:612868 | CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS | MONDO:0013027 | UMLS ID:C2748502" +BMGC_DS13188,BMG_DS044092,OMIM ID:612858 | MeSH ID:C567548 | MONDO:0013023 | DOID:0080405 | Orofacial Cleft 12 | orofacial cleft 12 | UMLS ID:C2748505 +BMGC_DS13189,BMG_DS044093,"UMLS ID:C2748506 | OMIM ID:612853 | MONDO:0013022 | restless legs syndrome, susceptibility to, 7" +BMGC_DS13190,BMG_DS044094,sterile multifocal osteomyelitis with periostitis and pustulosis | INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY | MONDO:0013021 | OMIM ID:612852 | UMLS ID:C2748507 +BMGC_DS13191,BMG_DS044096,"OMIM ID:612847 | UMLS ID:C2748515 | MONDO:0019666 | spondyloepimetaphyseal dysplasia, PAPSS2 type" +BMGC_DS13192,BMG_DS044098,UMLS ID:C2748518 | Lumbar scoliosis | OMIM ID:MTHU024856 +BMGC_DS13193,BMG_DS044099,"keratosis follicularis spinulosa decalvans, autosomal dominant | OMIM ID:612843 | MeSH ID:C567553 | UMLS ID:C2748527 | Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant | MONDO:0013018" +BMGC_DS13194,BMG_DS044100,MeSH ID:C567554 | UMLS ID:C2748535 | OMIM ID:612841 | DOID:0110702 | hypotrichosis 5 | MONDO:0013017 | Hypotrichosis 5 +BMGC_DS13195,BMG_DS044101,"UMLS ID:C2748536 | Leukocyte Adhesion Deficiency, Type III | leukocyte adhesion deficiency 3 | MeSH ID:C567555 | OMIM ID:612840 | MONDO:0013016" +BMGC_DS13196,BMG_DS044102,UMLS ID:C2748541 | MONDO:0013015 | OMIM ID:612838 | Brugada syndrome 5 | MeSH ID:C567556 | DOID:0110222 | Brugada Syndrome 5 +BMGC_DS13197,BMG_DS044103,"MONDO:0005449 | Cardiac Conduction Defect, Nonspecific | UMLS ID:C2748542 | MeSH ID:C567557 | conduction system disorder" +BMGC_DS13198,BMG_DS044104,"spondyloepimetaphyseal dysplasia, aggrecan type | UMLS ID:C2748544 | MONDO:0013014 | MeSH ID:C567558 | Spondyloepimetaphyseal Dysplasia, Aggrecan Type | OMIM ID:612813" +BMGC_DS13199,BMG_DS044105,"UMLS ID:C2748545 | question mark ears, isolated | OMIM ID:612798 | MONDO:0013013" +BMGC_DS13200,BMG_DS044106,Inflammatory Bowel Disease 27 | MONDO:0013012 | DOID:0110902 | inflammatory bowel disease 27 | MeSH ID:C567559 | UMLS ID:C2748550 | OMIM ID:612796 +BMGC_DS13201,BMG_DS044107,UMLS ID:C2748552 | atrial septal defect 5 | Atrial Septal Defect 5 | OMIM ID:612794 | MeSH ID:C567561 | MONDO:0013011 +BMGC_DS13202,BMG_DS044108,"autosomal recessive nonsyndromic hearing loss 71 | Deafness, Autosomal Recessive 71 | UMLS ID:C2748554 | MONDO:0013010 | OMIM ID:612789 | MeSH ID:C567562" +BMGC_DS13203,BMG_DS044110,combined immunodeficiency due to STIM1 deficiency | immunodeficiency 10 | MONDO:0013008 | MeSH ID:C557827 | DOID:0111970 | OMIM ID:612783 | Immune dysfunction with T-cell inactivation due to calcium entry defect 2 | UMLS ID:C2748557 +BMGC_DS13204,BMG_DS044111,MeSH ID:C557826 | MONDO:0013007 | DOID:0111976 | UMLS ID:C2748568 | combined immunodeficiency due to ORAI1 deficiency | OMIM ID:612782 | Immune dysfunction with T-cell inactivation due to calcium entry defect 1 | immunodeficiency 9 +BMGC_DS13205,BMG_DS044112,"UMLS ID:C2748571 | OMIM ID:612781 | Isolated Growth Hormone Deficiency, Type IB | isolated growth hormone deficiency type IB | MONDO:0013006 | MeSH ID:C567564" +BMGC_DS13206,BMG_DS044113,DOID:0060484 | MeSH ID:C557674 | EAST syndrome | OMIM ID:612780 | UMLS ID:C2748572 | MONDO:0013005 | SeSAME syndrome +BMGC_DS13207,BMG_DS044115,MeSH ID:C567567 | MONDO:0013003 | Hypoglossia With Situs Inversus | UMLS ID:C2748587 | OMIM ID:612776 | isolated congenital hypoglossia/aglossia +BMGC_DS13208,BMG_DS044119,hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | MeSH ID:C567570 | OMIM ID:615710 | Mitchell-Riley Syndrome | MONDO:0017400 | UMLS ID:C2748662 +BMGC_DS13209,BMG_DS044121,"OMIM ID:600785 | vitamin D-dependent rickets, type 2B | UMLS ID:C2748783 | Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor | MeSH ID:C567571 | MONDO:0010931" +BMGC_DS13210,BMG_DS044123,"MONDO:0010912 | congenital fibrosis of the extraocular muscles 3A | DOID:0081017 | fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | OMIM ID:602661 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT | OMIM ID:600638 | UMLS ID:C2748801" +BMGC_DS13211,BMG_DS044124,"OMIM ID:500006 | CARDIOMYOPATHY, INFANTILE HYPERTROPHIC | MONDO:0010777 | cardiomyopathy, infantile hypertrophic | OMIM ID:516070 | UMLS ID:C2748884 | DOID:0111753 | infantile hypertrophic cardiomyopathy | OMIM ID:516060" +BMGC_DS13212,BMG_DS044125,"OMIM ID:400045 | MeSH ID:D050090 | Ovotesticular Disorders of Sex Development | UMLS ID:C2748895 | 46,XX sex reversal 1 | MONDO:0100250" +BMGC_DS13213,BMG_DS044126,"OMIM ID:400044 | MONDO:0020712 | UMLS ID:C2748896 | 46,Xy Gonadal Dysgenesis, Complete, Sry-Related | 46,XY sex reversal 1 | MeSH ID:C567574" +BMGC_DS13214,BMG_DS044127,"46,Xy True Hermaphroditism, Sry-Related | UMLS ID:C2748897 | MeSH ID:C567575" +BMGC_DS13215,BMG_DS044128,"MONDO:0017746 | MeSH ID:C567576 | Rett Syndrome, Atypical | atypical Rett syndrome | UMLS ID:C2748910" +BMGC_DS13216,BMG_DS044129,MONDO:0018233 | otopalatodigital syndrome spectrum disorder | Otopalatodigital Spectrum Disorder | UMLS ID:C2748918 | MeSH ID:C567577 +BMGC_DS13217,BMG_DS044131,"UMLS ID:C2748941 | MeSH ID:C567579 | Glycogen Storage Disease, Type IXA2 | glycogen storage disease IXa2 | MONDO:0100439" +BMGC_DS13218,BMG_DS044132,chromosome Xq28 duplication syndrome | MONDO:0010436 | UMLS ID:C2749007 | Chromosome Xq28 Duplication Syndrome | MeSH ID:C567580 | OMIM ID:300815 +BMGC_DS13219,BMG_DS044134,"UMLS ID:C2749016 | X-linked thrombophilia due to factor IX defect | DOID:0111899 | thrombophilia, X-linked, due to factor 9 defect | MONDO:0010432 | Thrombophilia, X-Linked, Due To Factor Ix Defect | OMIM ID:300807 | MeSH ID:C567581" +BMGC_DS13220,BMG_DS044135,Joubert syndrome 10 | Joubert Syndrome 10 | OMIM ID:300804 | MONDO:0010431 | MeSH ID:C567582 | UMLS ID:C2749019 | DOID:0110981 +BMGC_DS13221,BMG_DS044136,"intellectual disability, X-linked 97 | UMLS ID:C2749020 | MONDO:0010430 | OMIM ID:300803" +BMGC_DS13222,BMG_DS044137,MONDO:0010428 | DOID:0060461 | UMLS ID:C2749022 | MeSH ID:C567585 | Chromosome Xp11.23-P11.22 Duplication Syndrome | chromosome Xp11.23-p11.22 duplication syndrome | OMIM ID:300801 +BMGC_DS13223,BMG_DS044138,"MONDO:0010426 | X-linked endothelial corneal dystrophy | UMLS ID:C2749049 | MeSH ID:C567587 | DOID:0060446 | OMIM ID:300779 | Corneal Dystrophy, Endothelial, X-Linked" +BMGC_DS13224,BMG_DS044139,"OMIM ID:300778 | MONDO:0010425 | Lisch epithelial corneal dystrophy | DOID:0060450 | MeSH ID:C567588 | UMLS ID:C2749050 | OMIM ID:620763 | Corneal Dystrophy, Lisch Epithelial" +BMGC_DS13225,BMG_DS044140,"Emery-Dreifuss muscular dystrophy 6, X-linked | X-Linked Emery-Dreifuss Muscular Dystrophy | UMLS ID:C2749106 | MeSH ID:D000083143 | MONDO:0800318 | Emery-Dreifuss Muscular Dystrophy 6, X-Linked" +BMGC_DS13226,BMG_DS044141,"MONDO:0010365 | Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked | myopathy, congenital, with fiber-type disproportion, X-linked | UMLS ID:C2749128 | MeSH ID:C567594 | OMIM ID:300580" +BMGC_DS13227,BMG_DS044142,"MONDO:0010330 | MeSH ID:C567595 | obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome | OMIM ID:300455 | UMLS ID:C2749137 | Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness" +BMGC_DS13228,BMG_DS044143,"Mineralocorticoid Deficiency, Isolated | MeSH ID:C567596 | UMLS ID:C2749175" +BMGC_DS13229,BMG_DS044144,"OMIM ID:608160 | 46,XX sex reversal 2 | DOID:0111763 | OMIM ID:278850 | 46,XX SEX REVERSAL 2 | UMLS ID:C2749215 | MONDO:0010218" +BMGC_DS13230,BMG_DS044145,MeSH ID:C564752 | Vater Association With Macrocephaly And Ventriculomegaly | UMLS ID:C2749240 +BMGC_DS13231,BMG_DS044146,"MeSH ID:C567601 | Gm2-Gangliosidosis, Variant B1 | UMLS ID:C2749283" +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 | OMIM ID:614879 | MeSH ID:C567603 | MONDO:0013945" +BMGC_DS13234,BMG_DS044150,"oculodentodigital dysplasia, autosomal recessive | OMIM ID:257850 | UMLS ID:C2749477 | MONDO:0009768 | MeSH ID:C567605 | Oculodentodigital Dysplasia, Autosomal Recessive" +BMGC_DS13235,BMG_DS044151,"OMIM ID:256700 | UMLS ID:C2749485 | MONDO:0009741 | neuroblastoma, susceptibility to, 1" +BMGC_DS13236,BMG_DS044152,"MONDO:0009713 | MYOPIA 18, AUTOSOMAL RECESSIVE | UMLS ID:C2749509 | myopia 18, autosomal recessive | OMIM ID:255500" +BMGC_DS13237,BMG_DS044154,"Methemoglobinemia, Type I | UMLS ID:C2749559 | MeSH ID:C537841" +BMGC_DS13238,BMG_DS044155,"MeSH ID:C537841 | Methemoglobinemia, Type Ii | UMLS ID:C2749560" +BMGC_DS13239,BMG_DS044156,"Nadh-Cytochrome B5 Reductase Deficiency, Type I | UMLS ID:C2749561 | MeSH ID:C537841" +BMGC_DS13240,BMG_DS044157,"UMLS ID:C2749562 | Nadh-Cytochrome B5 Reductase Deficiency, Type Ii | MeSH ID:C537841" +BMGC_DS13241,BMG_DS044159,"UMLS ID:C2749602 | AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA | OMIM ID:607358" +BMGC_DS13242,BMG_DS044160,"UMLS ID:C2749604 | hemolytic uremic syndrome, atypical, susceptibility to, 1 | OMIM ID:235400 | MONDO:0009335" +BMGC_DS13243,BMG_DS044161,OMIM ID:MTHU026112 | Motor axonal neuropathy | UMLS ID:C2749625 +BMGC_DS13244,BMG_DS044163,"MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE | megaloblastic anemia, folate-responsive | OMIM ID:601775 | OMIM ID:600424 | UMLS ID:C2749656 | MONDO:0011141" +BMGC_DS13245,BMG_DS044164,UMLS ID:C2749659 | OMIM ID:612952 | MONDO:0013059 | Aicardi-Goutieres syndrome 5 | MeSH ID:C535608 +BMGC_DS13246,BMG_DS044165,Split-Hand-Foot Malformation 6 | split hand-foot malformation 6 | MeSH ID:C567616 | MONDO:0009157 | UMLS ID:C2749665 | OMIM ID:225300 +BMGC_DS13247,BMG_DS044167,"OMIM ID:219800 | OMIM ID:606272 | UMLS ID:C2749685 | CYSTINOSIS, ATYPICAL NEPHROPATHIC" +BMGC_DS13248,BMG_DS044168,OMIM ID:211400 | UMLS ID:C2749757 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 | MONDO:0008887 | DOID:0080526 | bronchiectasis 1 | OMIM ID:600760 | bronchiectasis with or without elevated sweat chloride 1 +BMGC_DS13249,BMG_DS044169,"sitosterolemia 1 | MONDO:0020747 | MeSH ID:C537345 | OMIM ID:210250 | UMLS ID:C2749759 | Macrothrombocytopenia-Stomatocytosis, Mediterranean" +BMGC_DS13250,BMG_DS044172,MONDO:0012792 | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) | OMIM ID:604712 | OMIM ID:612075 | UMLS ID:C2749861 | mitochondrial DNA depletion syndrome 8a +BMGC_DS13251,BMG_DS044173,"mitochondrial DNA depletion syndrome 8b | UMLS ID:C2749862 | DOID:0080127;DOID:0070331;DOID:0080119 | MeSH ID:C536350 | Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related | mitochondrial DNA depletion syndrome 1 | mitochondrial DNA depletion syndrome 8a" +BMGC_DS13252,BMG_DS044174,"Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria | Mitochondrial encephalomyopathy aminoacidopathy syndrome | MONDO:0012791 | OMIM ID:612073 | mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria | SNOMEDCT ID:1197052008 | mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | UMLS ID:C2749864 | Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria | Booth Haworth Dilling syndrome | Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)" +BMGC_DS13253,BMG_DS044175,"MONDO:0012763 | UMLS ID:C2749872 | epilepsy, childhood absence, susceptibility to, 6 | OMIM ID:611942" +BMGC_DS13254,BMG_DS044176,UMLS ID:C2749873 | MeSH ID:C567626 | DOID:0060459 | OMIM ID:611936 | MONDO:0012761 | chromosome 3q29 microduplication syndrome | Chromosome 3q29 Duplication Syndrome +BMGC_DS13255,BMG_DS044178,"OMIM ID:611225 | MeSH ID:C567628 | UMLS ID:C2749936 | MONDO:0012639 | Spastic Paraplegia 18, Autosomal Recessive | hereditary spastic paraplegia 18" +BMGC_DS13256,BMG_DS044179,"MONDO:0008570 | thyrotoxic periodic paralysis, susceptibility to, 1 | OMIM ID:188580 | UMLS ID:C2749982" +BMGC_DS13257,BMG_DS044180,MeSH ID:C567632 | UMLS ID:C2750027 | Growth Hormone Deficiency With Pituitary Anomalies +BMGC_DS13258,BMG_DS044182,"MeSH ID:C567633 | Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive | MONDO:0014676 | OMIM ID:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | UMLS ID:C2750035" +BMGC_DS13259,BMG_DS044184,"UMLS ID:C2750061 | MONDO:0013234 | hypokalemic periodic paralysis, type 2 | Hypokalemic Periodic Paralysis, Type 2 | MeSH ID:C567635 | OMIM ID:613345" +BMGC_DS13260,BMG_DS044185,MeSH ID:C567636 | Leber congenital amaurosis 14 | DOID:0110188 | Leber Congenital Amaurosis 14 | UMLS ID:C2750063 | MONDO:0013231 | OMIM ID:613341 +BMGC_DS13261,BMG_DS044186,"MeSH ID:C567636 | Leber congenital amaurosis 14 | DOID:0110188 | UMLS ID:C2750064 | Retinal Dystrophy, Early-Onset Severe, Lrat-Related" +BMGC_DS13262,BMG_DS044187,"UMLS ID:C2750065 | OMIM ID:613341 | RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED | OMIM ID:604863" +BMGC_DS13263,BMG_DS044188,OMIM ID:613330 | UMLS ID:C2750066 | Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | MONDO:0013228 | MeSH ID:C567639 | spondylo-megaepiphyseal-metaphyseal dysplasia +BMGC_DS13264,BMG_DS044189,MeSH ID:C567640 | congenital plasminogen activator inhibitor type 1 deficiency | UMLS ID:C2750067 | MONDO:0013227 | OMIM ID:613329 | Plasminogen Activator Inhibitor-1 Deficiency +BMGC_DS13265,BMG_DS044190,combined immunodeficiency with faciooculoskeletal anomalies | Roifman-Chitayat Syndrome | OMIM ID:613328 | MONDO:0013226 | MeSH ID:C567641 | UMLS ID:C2750068 +BMGC_DS13266,BMG_DS044191,"MeSH ID:C567642 | MONDO:0013225 | OMIM ID:613327 | Lipodystrophy, Congenital Generalized, Type 4 | congenital generalized lipodystrophy type 4 | UMLS ID:C2750069" +BMGC_DS13267,BMG_DS044192,OMIM ID:613325 | rhabdoid tumor predisposition syndrome 2 | MeSH ID:C567643 | UMLS ID:C2750074 | MONDO:0013224 | Rhabdoid Tumor Predisposition Syndrome 2 +BMGC_DS13268,BMG_DS044193,"UMLS ID:C2750075 | autosomal recessive spondylometaphyseal dysplasia, Megarbane type | MeSH ID:C567644 | MONDO:0013223 | Chondrodysplasia, Megarbane-Dagher-Melki Type | OMIM ID:613320" +BMGC_DS13269,BMG_DS044194,OMIM ID:613319 | DOID:0070201 | Miyoshi muscular dystrophy 3 | MeSH ID:C567645 | UMLS ID:C2750076 | Miyoshi Muscular Dystrophy 3 | MONDO:0013222 +BMGC_DS13270,BMG_DS044195,MeSH ID:C567646 | DOID:0070200 | OMIM ID:613318 | Miyoshi muscular dystrophy 2 | MONDO:0013221 | UMLS ID:C2750077 | Miyoshi Muscular Dystrophy 2 +BMGC_DS13271,BMG_DS044196,"MONDO:0013219 | UMLS ID:C2750078 | MeSH ID:C567647 | OMIM ID:613312 | hypophosphatemic rickets, autosomal recessive, 2 | Hypophosphatemic Rickets, Autosomal Recessive, 2" +BMGC_DS13272,BMG_DS044197,exudative vitreoretinopathy 5 | DOID:0111408 | UMLS ID:C2750079 | MONDO:0013218 | MeSH ID:C567648 | OMIM ID:613310 | Exudative Vitreoretinopathy 5 +BMGC_DS13273,BMG_DS044198,MeSH ID:C567649 | DOID:0111888 | Diamond-Blackfan anemia 10 | UMLS ID:C2750080 | Diamond-Blackfan Anemia 10 | MONDO:0013217 | OMIM ID:613309 +BMGC_DS13274,BMG_DS044199,Diamond-Blackfan anemia 9 | MONDO:0013216 | OMIM ID:613308 | MeSH ID:C567650 | DOID:0111884 | UMLS ID:C2750081 | Diamond-Blackfan Anemia 9 +BMGC_DS13275,BMG_DS044200,"MeSH ID:C567651 | UMLS ID:C2750082 | OMIM ID:613307 | Deafness, Autosomal Recessive 79 | MONDO:0013215 | autosomal recessive nonsyndromic hearing loss 79" +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 | OMIM ID:613287 | UMLS ID:C2750090 | Charcot-Marie-Tooth Disease, Axonal, Type 2n | MeSH ID:C567653 | MONDO:0013212" +BMGC_DS13278,BMG_DS044204,"dilated cardiomyopathy 1FF | OMIM ID:613286 | MONDO:0013211 | Cardiomyopathy, Dilated, 1FF | MeSH ID:C567654 | UMLS ID:C2750091" +BMGC_DS13279,BMG_DS044205,"herpes simplex encephalitis, susceptibility to, 1 | MONDO:0024563 | UMLS ID:C2750180 | OMIM ID:610551" +BMGC_DS13280,BMG_DS044206,MeSH ID:C548029 | Karak Syndrome | UMLS ID:C2750220 +BMGC_DS13281,BMG_DS044207,"DOID:0070557 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 | CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2 | OMIM ID:610185 | cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | OMIM ID:614218 | UMLS ID:C2750234 | MONDO:0012430" +BMGC_DS13282,BMG_DS044208,MeSH ID:C567657 | MONDO:0012400 | OMIM ID:610042 | DOID:0090130 | UMLS ID:C2750246 | Pitt-Hopkins-Like Syndrome 1 | cortical dysplasia-focal epilepsy syndrome +BMGC_DS13283,BMG_DS044210,"MeSH ID:C567661 | Progeria Syndrome, Childhood-Onset | UMLS ID:C2750285" +BMGC_DS13284,BMG_DS044211,Oculootodental syndrome (disorder) | SNOMEDCT ID:770944002 | MONDO:0020494 | Oculootodental syndrome | oculootodental syndrome | UMLS ID:C2750325 +BMGC_DS13285,BMG_DS044212,Omodysplasia 2 | Autosomal dominant omodysplasia | MeSH ID:C567664 | SNOMEDCT ID:725165009 | MONDO:0008123 | UMLS ID:C2750355 | omodysplasia 2 | OMIM ID:164745 | Autosomal dominant omodysplasia (disorder) | autosomal dominant omodysplasia | DOID:0080845 +BMGC_DS13286,BMG_DS044213,"MeSH ID:C567666 | Fibrosis of Extraocular Muscles, Congenital, 3C | MONDO:0012262 | UMLS ID:C2750404 | fibrosis of extraocular muscles, congenital, 3c | OMIM ID:609384" +BMGC_DS13287,BMG_DS044214,"Cap Myopathy, Tpm2-Related | MeSH ID:C538351 | UMLS ID:C2750413 | DOID:0110932 | nemaline myopathy 4" +BMGC_DS13288,BMG_DS044215,"nemaline myopathy 1 | UMLS ID:C2750414 | DOID:0110926 | Cap Myopathy, Tpm3-Related | MeSH ID:C538348" +BMGC_DS13289,BMG_DS044216,MeSH ID:C567672 | OMIM ID:608980 | BNAR syndrome | MONDO:0012165 | UMLS ID:C2750433 | Bifid Nose With Or Without Anorectal And Renal Anomalies +BMGC_DS13290,BMG_DS044217,OMIM ID:613282 | UMLS ID:C2750440 | MONDO:0021105 | NAFLD1 +BMGC_DS13291,BMG_DS044218,MONDO:0013208 | MeSH ID:C548016 | UMLS ID:C2750442 | OMIM ID:613280 | Hypermanganesemia with Dystonia Polycythemia and Cirrhosis | cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome +BMGC_DS13292,BMG_DS044220,"corneal dystrophy, Fuchs endothelial, 6 | OMIM ID:613270 | OMIM ID:189909 | UMLS ID:C2750448 | MONDO:0013206 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6" +BMGC_DS13293,BMG_DS044222,"OMIM ID:610206 | OMIM ID:613268 | corneal dystrophy, Fuchs endothelial, 4 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 | MONDO:0013204 | UMLS ID:C2750450" +BMGC_DS13294,BMG_DS044223,"MONDO:0013203 | UMLS ID:C2750451 | CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 | OMIM ID:613267 | corneal dystrophy, Fuchs endothelial, 3 | OMIM ID:602272" +BMGC_DS13295,BMG_DS044224,"Waardenburg Syndrome, Type 4c | MeSH ID:C567679 | UMLS ID:C2750452 | OMIM ID:613266 | MONDO:0013202 | Waardenburg syndrome type 4C" +BMGC_DS13296,BMG_DS044225,"MONDO:0013201 | Waardenburg Syndrome, Type 4b | OMIM ID:613265 | Waardenburg syndrome type 4B | MeSH ID:C567680 | UMLS ID:C2750457" +BMGC_DS13297,BMG_DS044226,"hypertrophic cardiomyopathy 15 | MONDO:0013200 | OMIM ID:193065 | OMIM ID:613255 | DOID:0110321 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 | UMLS ID:C2750459" +BMGC_DS13298,BMG_DS044227,"MeSH ID:C567683 | UMLS ID:C2750466 | MONDO:0013198 | Cardiomyopathy, Dilated, 1EE | dilated cardiomyopathy 1EE | OMIM ID:613252" +BMGC_DS13299,BMG_DS044228,"MeSH ID:C567684 | UMLS ID:C2750467 | hypertrophic cardiomyopathy 14 | Cardiomyopathy, Familial Hypertrophic, 14 | OMIM ID:613251 | MONDO:0013197" +BMGC_DS13300,BMG_DS044229,"UMLS ID:C2750471 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 | DOID:0070270 | Lynch syndrome 8 | MONDO:0013196 | hereditary nonpolyposis colorectal cancer type 8 | OMIM ID:613244" +BMGC_DS13301,BMG_DS044230,"MONDO:0013195 | hypertrophic cardiomyopathy 13 | MeSH ID:C567686 | UMLS ID:C2750472 | OMIM ID:613243 | Cardiomyopathy, Familial Hypertrophic, 13" +BMGC_DS13302,BMG_DS044231,"OMIM ID:613239 | MONDO:0013193 | thyrotoxic periodic paralysis, susceptibility to, 2 | UMLS ID:C2750473" +BMGC_DS13303,BMG_DS044233,DOID:0111130 | Focal Segmental Glomerulosclerosis 5 | UMLS ID:C2750475 | focal segmental glomerulosclerosis 5 | MeSH ID:C567687 | OMIM ID:613237 | MONDO:0013191 +BMGC_DS13304,BMG_DS044234,"MONDO:0013190 | UMLS ID:C2750481 | OMIM ID:613235 | factor XIII, b subunit, deficiency of" +BMGC_DS13305,BMG_DS044235,"DOID:0070558 | cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | MONDO:0013188 | MeSH ID:C567690 | OMIM ID:613227 | autosomal recessive spinocerebellar ataxia 34 | UMLS ID:C2750509 | Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3" +BMGC_DS13306,BMG_DS044236,"UMLS ID:C2750514 | MONDO:0013187 | Factor Xiii, A Subunit, Deficiency Of | OMIM ID:613225 | factor XIII, A subunit, deficiency of | MeSH ID:C567691" +BMGC_DS13307,BMG_DS044237,"MONDO:0008067 | OMIM ID:161550 | nasopharyngeal carcinoma, susceptibility to, 2 | UMLS ID:C2750548" +BMGC_DS13308,BMG_DS044238,MeSH ID:C567698 | Cone-Rod Dystrophy 13 | MONDO:0011987 | UMLS ID:C2750720 | DOID:0111016 | OMIM ID:608194 | cone-rod dystrophy 13 +BMGC_DS13309,BMG_DS044239,"MeSH ID:C567699 | UMLS ID:C2750729 | Amyotrophic Lateral Sclerosis 6, Autosomal Recessive" +BMGC_DS13310,BMG_DS044240,Noonan Syndrome 6 | Noonan syndrome 6 | UMLS ID:C2750732 | OMIM ID:613224 | MONDO:0013186 | DOID:0060584 | MeSH ID:C548084 +BMGC_DS13311,BMG_DS044241,"MONDO:0013185 | UMLS ID:C2750733 | leprosy, susceptibility to, 5 | OMIM ID:613223" +BMGC_DS13312,BMG_DS044242,"OMIM ID:613217 | UMLS ID:C2750737 | OMIM ID:185535 | congenital diarrhea 5 with tufting enteropathy | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | MONDO:0013184" +BMGC_DS13313,BMG_DS044244,"congenital stationary night blindness 1C | OMIM ID:603576 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C | UMLS ID:C2750747 | OMIM ID:613216 | DOID:0110867 | MONDO:0013183" +BMGC_DS13314,BMG_DS044246,"Amelogenesis Imperfecta, Hypomaturation Type, Iia3 | MONDO:0013181 | MeSH ID:C567706 | amelogenesis imperfecta hypomaturation type 2A3 | UMLS ID:C2750771 | OMIM ID:613211" +BMGC_DS13315,BMG_DS044248,"UMLS ID:C2750784 | Spastic Paraplegia 44, Autosomal Recessive | OMIM ID:613206 | MONDO:0013179 | hereditary spastic paraplegia 44 | MeSH ID:C567707" +BMGC_DS13316,BMG_DS044249,"OMIM ID:613205 | MeSH ID:C567708 | UMLS ID:C2750785 | MONDO:0013178 | Muscular Dystrophy, Congenital, Lmna-Related | congenital muscular dystrophy due to LMNA mutation" +BMGC_DS13317,BMG_DS044250,"congenital muscular dystrophy due to integrin alpha-7 deficiency | Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency | OMIM ID:613204 | MONDO:0013177 | UMLS ID:C2750786 | MeSH ID:C567709" +BMGC_DS13318,BMG_DS044251,"Weill-Marchesani 4 syndrome, recessive | UMLS ID:C2750787 | MONDO:0013176 | MeSH ID:C567710 | Weill-Marchesani-Like Syndrome | OMIM ID:613195" +BMGC_DS13319,BMG_DS044252,"MONDO:0013175 | UMLS ID:C2750789 | Retinitis Pigmentosa, Concentric | retinitis pigmentosa 50 | OMIM ID:613194 | MeSH ID:C567712" +BMGC_DS13320,BMG_DS044253,"primary ciliary dyskinesia 13 | MONDO:0013174 | OMIM ID:613190 | CILIARY DYSKINESIA, PRIMARY, 13 | UMLS ID:C2750790 | OMIM ID:613193" +BMGC_DS13321,BMG_DS044254,"MONDO:0013173 | UMLS ID:C2750791 | intellectual disability, autosomal recessive 13 | OMIM ID:613192" +BMGC_DS13322,BMG_DS044255,Polymicrogyria With Optic Nerve Hypoplasia | OMIM ID:613180 | UMLS ID:C2750798 | MONDO:0013172 | polymicrogyria with optic nerve hypoplasia | MeSH ID:C567715 +BMGC_DS13323,BMG_DS044256,"cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | UMLS ID:C2750804 | DOID:0070139 | MONDO:0013170 | Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities | OMIM ID:613177 | autosomal recessive cutis laxa type IC | MeSH ID:C567716" +BMGC_DS13324,BMG_DS044257,chromosome 5p13 duplication syndrome | MONDO:0013169 | Chromosome 5p13 Duplication Syndrome | DOID:0060460 | MeSH ID:C567717 | OMIM ID:613174 | UMLS ID:C2750805 +BMGC_DS13325,BMG_DS044258,UMLS ID:C2750815 | MONDO:0100522 | OMIM ID:146550 | hypotrichosis 4 | Marie Unna Hereditary Hypotrichosis 1 | MeSH ID:C567718 +BMGC_DS13326,BMG_DS044259,"hyperthyroxinemia, dystransthyretinemic | MONDO:0007785 | Dystransthyretinemic Euthyroidal Hyperthyroxinemia | OMIM ID:145680 | MeSH ID:C567719 | UMLS ID:C2750824" +BMGC_DS13327,BMG_DS044260,UMLS ID:C2750850 | OMIM ID:137800 | glioma susceptibility 1 | MONDO:0024498 +BMGC_DS13328,BMG_DS044261,"epilepsy, idiopathic generalized, susceptibility to, 9 | MONDO:0011892 | OMIM ID:607682 | UMLS ID:C2750887" +BMGC_DS13329,BMG_DS044262,"epilepsy, juvenile myoclonic, susceptibility to, 6 | MONDO:0800271 | UMLS ID:C2750888" +BMGC_DS13330,BMG_DS044263,"epilepsy, juvenile absence, susceptibility to, 1 | UMLS ID:C2750892 | OMIM ID:607631 | MONDO:0020772" +BMGC_DS13331,BMG_DS044264,"MONDO:0011875 | UMLS ID:C2750893 | OMIM ID:607628 | epilepsy, idiopathic generalized, susceptibility to, 11" +BMGC_DS13332,BMG_DS044266,"Cardiomyopathy, Dilated, 1DD | MONDO:0013168 | UMLS ID:C2750995 | dilated cardiomyopathy 1DD | MeSH ID:C567725 | OMIM ID:613172" +BMGC_DS13333,BMG_DS044268,"muscular dystrophy-dystroglycanopathy type B4 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 | MONDO:0013156 | OMIM ID:613152 | muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | DOID:0112379 | UMLS ID:C2751052 | OMIM ID:607440" +BMGC_DS13334,BMG_DS044269,"OMIM ID:613148 | DOID:0110899 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE | MONDO:0013153 | inflammatory bowel disease 28 | UMLS ID:C2751053" +BMGC_DS13335,BMG_DS044271,"MeSH ID:C567729 | choroidal dystrophy, central areolar, 3 | MONDO:0013151 | OMIM ID:613144 | UMLS ID:C2751055 | Choroidal Dystrophy, Central Areolar 3" +BMGC_DS13336,BMG_DS044272,"MONDO:0013150 | parkinsonism-dystonia, infantile | UMLS ID:C2751067 | classic dopamine transporter deficiency syndrome | MeSH ID:C567730 | DOID:0070489 | Parkinsonism-Dystonia, Infantile" +BMGC_DS13337,BMG_DS044274,OMIM ID:613123 | Brugada syndrome 8 | MeSH ID:C567732 | DOID:0110225 | Brugada Syndrome 8 | UMLS ID:C2751083 | MONDO:0013148 +BMGC_DS13338,BMG_DS044275,"MeSH ID:C567733 | Cardiomyopathy, Dilated, 1CC | dilated cardiomyopathy 1CC | MONDO:0013147 | OMIM ID:613122 | UMLS ID:C2751084" +BMGC_DS13339,BMG_DS044276,OMIM ID:613120 | Brugada syndrome 7 | DOID:0110224 | UMLS ID:C2751088 | MONDO:0013146 | MeSH ID:C567734 | Brugada Syndrome 7 +BMGC_DS13340,BMG_DS044277,UMLS ID:C2751089 | DOID:0110223 | Brugada Syndrome 6 | OMIM ID:613119 | Brugada syndrome 6 | MONDO:0013145 | MeSH ID:C567735 +BMGC_DS13341,BMG_DS044278,hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | thrombophilia due to HRG deficiency | OMIM ID:613116 | MONDO:0013143 | UMLS ID:C2751090 | DOID:0111903 | Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency | MeSH ID:C567737 +BMGC_DS13342,BMG_DS044279,UMLS ID:C2751091 | Thrombophilia Due To Elevated Histidine-Rich Glycoprotein | MeSH ID:C567737 +BMGC_DS13343,BMG_DS044280,"UMLS ID:C2751092 | neuropathy, hereditary sensory and autonomic, type 2B | Neuropathy, Hereditary Sensory And Autonomic, Type IIB | MONDO:0013142 | OMIM ID:613115 | MeSH ID:C567738" +BMGC_DS13344,BMG_DS044281,"MeSH ID:C567739 | UMLS ID:C2751105 | MONDO:0800209 | fibrosis of extraocular muscles, congenital, 3b | Fibrosis of Extraocular Muscles, Congenital, 3B" +BMGC_DS13345,BMG_DS044284,"Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related | MeSH ID:C567747 | UMLS ID:C2751259" +BMGC_DS13346,BMG_DS044285,OMIM ID:MTHU024610 | UMLS ID:C2751260 | Macrothrombocytopenia +BMGC_DS13347,BMG_DS044286,"Neutropenia, Severe Congenital, Autosomal Dominant 2 | MeSH ID:C567748 | MONDO:0013139 | OMIM ID:613107 | UMLS ID:C2751288 | neutropenia, severe congenital, 2, autosomal dominant" +BMGC_DS13348,BMG_DS044288,"MONDO:0013137 | UMLS ID:C2751290 | OMIM ID:613105 | choroidal dystrophy, central areolar 2 | CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2" +BMGC_DS13349,BMG_DS044289,UMLS ID:C2751292 | MONDO:0013136 | OMIM ID:613102 | hereditary hypotrichosis with recurrent skin vesicles | MeSH ID:C567751 | Hypotrichosis And Recurrent Skin Vesicles +BMGC_DS13350,BMG_DS044290,familial hemophagocytic lymphohistiocytosis 5 | UMLS ID:C2751293 | MONDO:0013135 | OMIM ID:613101 +BMGC_DS13351,BMG_DS044291,"OMIM ID:613100 | glaucoma 1, open angle, O | GLAUCOMA 1, OPEN ANGLE, O | MONDO:0013134 | UMLS ID:C2751294 | OMIM ID:162662" +BMGC_DS13352,BMG_DS044292,"MONDO:0013133 | melanoma, cutaneous malignant, susceptibility to, 5 | OMIM ID:613099 | UMLS ID:C2751295" +BMGC_DS13353,BMG_DS044293,"OMIM ID:155555 | INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC | OMIM ID:613098 | UMLS ID:C2751296" +BMGC_DS13354,BMG_DS044294,"UMLS ID:C2751297 | Tooth Agenesis, Selective, 6 | MeSH ID:C567755" +BMGC_DS13355,BMG_DS044295,MONDO:0013131 | polycystic kidney disease 2 | UMLS ID:C2751306 | OMIM ID:613095 +BMGC_DS13356,BMG_DS044296,"UMLS ID:C2751307 | Microphthalmia, Isolated 4 | MeSH ID:C567757 | OMIM ID:613094 | isolated microphthalmia 4 | MONDO:0013130" +BMGC_DS13357,BMG_DS044297,MeSH ID:C567758 | Cone Dystrophy 4 | cone dystrophy 4 | MONDO:0013129 | UMLS ID:C2751308 | OMIM ID:613093 +BMGC_DS13358,BMG_DS044298,UMLS ID:C2751309 | Achromatopsia 5 | achromatopsia 5 | MeSH ID:C567759 | MONDO:0800196 +BMGC_DS13359,BMG_DS044299,"MeSH ID:C567760 | OMIM ID:613092 | familial juvenile hyperuricemic nephropathy type 2 | Hyperuricemic Nephropathy, Familial Juvenile 2 | UMLS ID:C2751310 | MONDO:0013128" +BMGC_DS13360,BMG_DS044301,MONDO:0013125 | MeSH ID:C567763 | CLAPO syndrome | CLAPO Syndrome | UMLS ID:C2751313 | OMIM ID:613089 +BMGC_DS13361,BMG_DS044303,atrial septal defect 6 | UMLS ID:C2751315 | MONDO:0013123 | OMIM ID:613087 +BMGC_DS13362,BMG_DS044304,"MONDO:0013122 | Glaucoma 3, Primary Congenital, D | UMLS ID:C2751316 | OMIM ID:613086 | glaucoma 3, primary congenital, D | MeSH ID:C567765" +BMGC_DS13363,BMG_DS044305,"UMLS ID:C2751317 | 46, XY Sex Reversal 5 | DOID:0111776 | MeSH ID:C567766 | OMIM ID:613080 | MONDO:0013120 | 46,XY sex reversal 5" +BMGC_DS13364,BMG_DS044306,UMLS ID:C2751318 | Nijmegen breakage syndrome-like disorder | OMIM ID:613078 | MONDO:0013118 | Nijmegen Breakage Syndrome-Like Disorder | MeSH ID:C567767 +BMGC_DS13365,BMG_DS044307,"UMLS ID:C2751319 | MONDO:0013117 | Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | OMIM ID:613077 | MeSH ID:C567768" +BMGC_DS13366,BMG_DS044308,"MONDO:0013116 | congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay | UMLS ID:C2751320 | MeSH ID:C567769 | OMIM ID:613076" +BMGC_DS13367,BMG_DS044309,"OMIM ID:613075 | MeSH ID:C567770 | UMLS ID:C2751321 | Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | RIN2 syndrome | MONDO:0013115" +BMGC_DS13368,BMG_DS044310,UMLS ID:C2751322 | Metaphyseal Anadysplasia 2 | MONDO:0013113 | MeSH ID:C567771 | metaphyseal anadysplasia 2 | OMIM ID:613073 +BMGC_DS13369,BMG_DS044311,OMIM ID:600761 | DOID:0080528 | OMIM ID:613071 | UMLS ID:C2751324 | bronchiectasis with or without elevated sweat chloride 3 | bronchiectasis 3 | MONDO:0013112 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 +BMGC_DS13370,BMG_DS044312,"46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy | MeSH ID:C567773 | UMLS ID:C2751325" +BMGC_DS13371,BMG_DS044313,"UMLS ID:C2751329 | OMIM ID:606963 | PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN" +BMGC_DS13372,BMG_DS044314,"MONDO:0800421 | UMLS ID:C2751427 | cardiomyopathy, familial hypertrophic, 4, susceptibility to" +BMGC_DS13373,BMG_DS044315,"MONDO:0007257 | candidiasis, familial, 1 | CANDIDIASIS, FAMILIAL, 1 | UMLS ID:C2751429 | OMIM ID:114580" +BMGC_DS13374,BMG_DS044316,OMIM ID:114200 | Camptodactyly 1 | UMLS ID:C2751430 | MONDO:0007250 | camptodactyly of fingers | MeSH ID:C567780 +BMGC_DS13375,BMG_DS044317,"UMLS ID:C2751431 | MONDO:0007195 | Bifid Nose, Autosomal Dominant | bifid nose, autosomal dominant | MeSH ID:C535441 | OMIM ID:109740" +BMGC_DS13376,BMG_DS044318,"MONDO:0971004 | amyloidosis, hereditary systemic 1 | OMIM ID:105210 | UMLS ID:C2751492" +BMGC_DS13377,BMG_DS044319,"UMLS ID:C2751493 | MeSH ID:C537459 | Cerebral Amyloid Angiopathy, Gsn-Related" +BMGC_DS13378,BMG_DS044320,"ABeta amyloidosis, Arctic type | MONDO:0017949 | UMLS ID:C2751494 | DOID:0070028 | APP-related cerebral amyloid angiopathy | OMIM ID:605714 | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | OMIM ID:104760" +BMGC_DS13379,BMG_DS044321,MONDO:0011614 | OMIM ID:605911 | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | UMLS ID:C2751532 | 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | MeSH ID:C567784 +BMGC_DS13380,BMG_DS044322,"OMIM ID:605735 | MeSH ID:C567786 | platelet-type bleeding disorder 12 | UMLS ID:C2751535 | MONDO:0011588 | Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet" +BMGC_DS13381,BMG_DS044323,"cerebral amyloid angiopathy, APP-related | UMLS ID:C2751536 | MONDO:0011583 | DOID:0070028 | APP-related cerebral amyloid angiopathy | OMIM ID:605714 | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED" +BMGC_DS13382,BMG_DS044324,"MONDO:0011556 | basal cell carcinoma, susceptibility to, 1 | UMLS ID:C2751544 | OMIM ID:605462" +BMGC_DS13383,BMG_DS044325,MeSH ID:C567791 | OMIM ID:613068 | UMLS ID:C2751584 | MONDO:0013110 | neurodegenerative syndrome due to cerebral folate transport deficiency | Neurodegeneration Due To Cerebral Folate Transport Deficiency +BMGC_DS13384,BMG_DS044326,"MONDO:0013109 | UMLS ID:C2751593 | OMIM ID:613067 | leukemia, acute lymphocytic, susceptibility to, 2" +BMGC_DS13385,BMG_DS044327,"leukemia, acute lymphocytic, susceptibility to, 1 | OMIM ID:613065 | MONDO:0013108 | UMLS ID:C2751595" +BMGC_DS13386,BMG_DS044332,"epilepsy, idiopathic generalized, susceptibility to, 10 | MONDO:0013103 | OMIM ID:613060 | UMLS ID:C2751603" +BMGC_DS13387,BMG_DS044335,"OMIM ID:613055 | MeSH ID:C567802 | Atrial Fibrillation, Familial, 8 | MONDO:0013100 | atrial fibrillation, familial, 8 | UMLS ID:C2751607" +BMGC_DS13388,BMG_DS044336,"Pituitary Hormone Deficiency, Combined, 1 | MONDO:0024464 | UMLS ID:C2751608 | MeSH ID:C567803 | pituitary hormone deficiency, combined, 1 | OMIM ID:613038" +BMGC_DS13389,BMG_DS044338,Dursun Syndrome | MeSH ID:C567260 | OMIM ID:612541 | UMLS ID:C2751630 | autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | MONDO:0012930 +BMGC_DS13390,BMG_DS044343,glioma susceptibility 3 | MONDO:0013093 | UMLS ID:C2751641 | OMIM ID:613029 +BMGC_DS13391,BMG_DS044344,glioma susceptibility 2 | OMIM ID:613028 | MONDO:0013092 | UMLS ID:C2751642 +BMGC_DS13392,BMG_DS044345,glycogen storage disease IXc | DOID:0111043 | MONDO:0013091 | UMLS ID:C2751643 | MeSH ID:C567809 | OMIM ID:613027 | Glycogen Storage Disease IXC +BMGC_DS13393,BMG_DS044348,MONDO:0013089 | UMLS ID:C2751663 | schizophrenia 13 | DOID:0070089 | OMIM ID:613025 | SCHIZOPHRENIA 13 +BMGC_DS13394,BMG_DS044349,"UMLS ID:C2751665 | MONDO:0013088 | OMIM ID:613024 | follicular lymphoma, susceptibility to, 1" +BMGC_DS13395,BMG_DS044350,bronchiectasis 2 | UMLS ID:C2751666 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 | bronchiectasis with or without elevated sweat chloride 2 | OMIM ID:600228 | OMIM ID:613021 | DOID:0080527 | MONDO:0013087 +BMGC_DS13396,BMG_DS044354,"MONDO:0013083 | UMLS ID:C2751681 | neuroblastoma, susceptibility to, 3 | OMIM ID:613014" +BMGC_DS13397,BMG_DS044355,"UMLS ID:C2751682 | neuroblastoma, susceptibility to, 2 | MONDO:0700041 | OMIM ID:613013" +BMGC_DS13398,BMG_DS044357,"MeSH ID:C567815 | Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 | UMLS ID:C2751686" +BMGC_DS13399,BMG_DS044361,UMLS ID:C2751698 | Santos Syndrome | MeSH ID:C567819 | OMIM ID:613005 | MONDO:0013077 | Santos syndrome +BMGC_DS13400,BMG_DS044362,"epilepsy, idiopathic generalized, susceptibility to, 7 | MONDO:0011491 | UMLS ID:C2751729 | OMIM ID:604827" +BMGC_DS13401,BMG_DS044363,"MeSH ID:C567820 | UMLS ID:C2751756 | febrile seizures, familial, 3a | Febrile Convulsions, Familial, 3a | MONDO:0800329" +BMGC_DS13402,BMG_DS044364,"Retinitis Pigmentosa, Juvenile, Aipl1-Related | Leber congenital amaurosis 4 | UMLS ID:C2751763 | DOID:0110332 | MeSH ID:C565778" +BMGC_DS13403,BMG_DS044365,"UMLS ID:C2751764 | Cone-Rod Dystrophy, Aipl1-Related | Leber congenital amaurosis 4 | DOID:0110332 | MeSH ID:C565778" +BMGC_DS13404,BMG_DS044366,"Generalized Epilepsy With Febrile Seizures Plus, 7 | UMLS ID:C2751778 | DOID:0111295 | generalized epilepsy with febrile seizures plus 7 | OMIM ID:613863 | MONDO:0013470 | MeSH ID:C567827 | generalized epilepsy with febrile seizures plus, type 7" +BMGC_DS13405,BMG_DS044367,"MeSH ID:C565814 | DOID:0110331 | Retinitis Pigmentosa, Juvenile, SPATA7-Related | UMLS ID:C2751780 | Leber congenital amaurosis 3" +BMGC_DS13406,BMG_DS044368,"OMIM ID:613003 | UMLS ID:C2751802 | MONDO:0013076 | attention deficit-hyperactivity disorder, susceptibility to, 7" +BMGC_DS13407,BMG_DS044369,"IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS | MONDO:0800187 | UMLS ID:C2751803 | OMIM ID:603029 | OMIM ID:613002 | immunodeficiency 83, susceptibility to viral infections" +BMGC_DS13408,BMG_DS044370,"OMIM ID:612999 | DOID:0070250 | UMLS ID:C2751805 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT | autosomal dominant Emery-Dreifuss muscular dystrophy 5 | MONDO:0013072" +BMGC_DS13409,BMG_DS044371,"Emery-Dreifuss Muscular Dystrophy 4 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | OMIM ID:612998 | UMLS ID:C2751807 | MONDO:0013071 | MeSH ID:C567831" +BMGC_DS13410,BMG_DS044372,UMLS ID:C2751811 | MeSH ID:C567832 | MONDO:0013070 | OMIM ID:612997 | spermatogenic failure 7 | Spermatogenic Failure 7 | DOID:0070173 +BMGC_DS13411,BMG_DS044373,"OMIM ID:612989 | MeSH ID:C567833 | optic atrophy 7 | DOID:0111437 | autosomal recessive optic atrophy, OPA7 type | Optic Atrophy 7 | MONDO:0013069 | UMLS ID:C2751812" +BMGC_DS13412,BMG_DS044375,"OMIM ID:612968 | MONDO:0013067 | MeSH ID:C567835 | UMLS ID:C2751822 | Cataract, Autosomal Recessive Congenital 3 | cataract 34 multiple types" +BMGC_DS13413,BMG_DS044376,"46,XY disorder of sex development | Disorder of Sex Development, 46,XY | MONDO:0020040 | UMLS ID:C2751824 | MeSH ID:D058490 | 46, XY Disorders of Sex Development" +BMGC_DS13414,BMG_DS044377,premature ovarian failure 7 | OMIM ID:612964 | MONDO:0013065 | Premature Ovarian Failure 7 | MeSH ID:C567838 | UMLS ID:C2751825 +BMGC_DS13415,BMG_DS044378,Multiple Synostoses Syndrome 3 | UMLS ID:C2751826 | multiple synostoses syndrome 3 | OMIM ID:612961 | MeSH ID:C567839 | MONDO:0013064 +BMGC_DS13416,BMG_DS044379,"ventricular fibrillation, paroxysmal familial, 2 | Ventricular Fibrillation, Paroxysmal Familial, 2 | UMLS ID:C2751829 | MONDO:0013063 | MeSH ID:C567841 | OMIM ID:612956" +BMGC_DS13417,BMG_DS044380,Long Qt Syndrome 12 | DOID:0110653 | MeSH ID:C567842 | OMIM ID:612955 | UMLS ID:C2751830 | MONDO:0013062 | long QT syndrome 12 +BMGC_DS13418,BMG_DS044381,"MeSH ID:C567843 | OMIM ID:612954 | UMLS ID:C2751831 | Myopathy, Myofibrillar, Bag3-Related | MONDO:0013061 | myofibrillar myopathy 6" +BMGC_DS13419,BMG_DS044382,"OMIM ID:612953 | autosomal recessive Parkinson disease 14 | PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE | MONDO:0013060 | UMLS ID:C2751842" +BMGC_DS13420,BMG_DS044383,"MONDO:0013058 | cystic leukoencephalopathy without megalencephaly | MeSH ID:C567845 | Leukoencephalopathy, Cystic, Without Megalencephaly | OMIM ID:612951 | UMLS ID:C2751843" +BMGC_DS13421,BMG_DS044385,"UMLS ID:C2751855 | MONDO:0013056 | OMIM ID:612949 | MeSH ID:C567847 | DOID:0080349 | developmental and epileptic encephalopathy, 39 | developmental and epileptic encephalopathy 39 | Hypomyelination, Global Cerebral" +BMGC_DS13422,BMG_DS044388,"OMIM ID:612946 | MeSH ID:C567850 | microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type | UMLS ID:C2751878 | MONDO:0013053 | Hadziselimovic Syndrome" +BMGC_DS13423,BMG_DS044389,"UMLS ID:C2751898 | MONDO:0011376 | OMIM ID:603829 | MeSH ID:C567851 | Ventricular Fibrillation, Paroxysmal Familial, 1 | ventricular fibrillation, paroxysmal familial, type 1" +BMGC_DS13424,BMG_DS044391,OMIM ID:612943 | OMIM ID:611119 | retinitis pigmentosa 42 | RETINITIS PIGMENTOSA 42 | UMLS ID:C2751986 | MONDO:0013052 +BMGC_DS13425,BMG_DS044392,"MONDO:0013051 | OMIM ID:612940 | MeSH ID:C567855 | Cutis Laxa, Autosomal Recessive, Type IIB | UMLS ID:C2751987 | autosomal recessive cutis laxa type 2B" +BMGC_DS13426,BMG_DS044393,"UMLS ID:C2752001 | lethal polymalformative syndrome, Boissel type | OMIM ID:612938 | MONDO:0013050" +BMGC_DS13427,BMG_DS044394,"OMIM ID:612937 | Congenital Disorder of Glycosylation, Type Io | MeSH ID:C567857 | UMLS ID:C2752007 | MONDO:0013049 | DPM3-congenital disorder of glycosylation" +BMGC_DS13428,BMG_DS044395,"OMIM ID:612936 | MeSH ID:C567858 | hereditary spastic paraplegia 50 | MONDO:0013048 | Spastic Paraplegia-50, Autosomal Recessive | UMLS ID:C2752008" +BMGC_DS13429,BMG_DS044396,MONDO:0013968 | MeSH ID:C567859 | OMIM ID:614921 | UMLS ID:C2752015 | PGM1-congenital disorder of glycosylation | Glycogen Storage Disease XIV +BMGC_DS13430,BMG_DS044397,OMIM ID:612932 | MeSH ID:C567861 | MONDO:0013046 | UMLS ID:C2752027 | Glycogen Storage Disease XIII | glycogen storage disease due to muscle beta-enolase deficiency +BMGC_DS13431,BMG_DS044399,OMIM ID:612926 | UMLS ID:C2752036 | MONDO:0013044 | atypical hemolytic-uremic syndrome with thrombomodulin anomaly +BMGC_DS13432,BMG_DS044400,atypical hemolytic-uremic syndrome with C3 anomaly | OMIM ID:612925 | MONDO:0013043 | UMLS ID:C2752037 +BMGC_DS13433,BMG_DS044401,UMLS ID:C2752038 | atypical hemolytic-uremic syndrome with B factor anomaly | MONDO:0013042 | OMIM ID:612924 +BMGC_DS13434,BMG_DS044402,OMIM ID:612923 | atypical hemolytic-uremic syndrome with I factor anomaly | MONDO:0013041 | UMLS ID:C2752039 +BMGC_DS13435,BMG_DS044403,OMIM ID:612922 | UMLS ID:C2752040 | MONDO:0013040 | atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +BMGC_DS13436,BMG_DS044404,MONDO:0013039 | 3M syndrome 2 | UMLS ID:C2752041 | OMIM ID:612921 | MeSH ID:C567862 | Three M Syndrome 2 +BMGC_DS13437,BMG_DS044405,"UMLS ID:C2752042 | CLOVES syndrome | OMIM ID:612918 | MeSH ID:C567863 | MONDO:0013038 | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi" +BMGC_DS13438,BMG_DS044406,MeSH ID:C567864 | OMIM ID:612917 | UMLS ID:C2752043 | Giacheti Syndrome | MONDO:0013037 | Giacheti syndrome +BMGC_DS13439,BMG_DS044407,Zechi-Ceide syndrome | MONDO:0013036 | UMLS ID:C2752047 | MeSH ID:C567865 | Zechi-Ceide Syndrome | OMIM ID:612916 +BMGC_DS13440,BMG_DS044408,DOID:0060381 | orofaciodigital syndrome XI | Orofaciodigital syndrome 11 | MONDO:0013035 | UMLS ID:C2752048 | MeSH ID:C557821 | OMIM ID:612913 +BMGC_DS13441,BMG_DS044410,"Cerebral Palsy, Spastic Quadriplegic, 2 | UMLS ID:C2752061 | OMIM ID:612900 | MeSH ID:C567867 | cerebral palsy, spastic quadriplegic, 2 | MONDO:0013033" +BMGC_DS13442,BMG_DS044411,"OMIM ID:612899 | UMLS ID:C2752062 | epilepsy, idiopathic generalized, susceptibility to, 8 | MONDO:0013032" +BMGC_DS13443,BMG_DS044412,"UMLS ID:C2752071 | chromosome 5Q14.3 deletion syndrome, distal | MeSH ID:C567876 | Heterotopia, Periventricular, Associated With Chromosome 5q Deletion | OMIM ID:612881 | MONDO:0013031" +BMGC_DS13444,BMG_DS044413,"OMIM ID:612877 | MeSH ID:C567877 | UMLS ID:C2752072 | Cardiomyopathy, Dilated, 1BB | dilated cardiomyopathy 1BB | MONDO:0013030" +BMGC_DS13445,BMG_DS044414,UMLS ID:C2752073 | Erythrocyte Amp Deaminase Deficiency | MeSH ID:C567878 +BMGC_DS13446,BMG_DS044415,ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY | UMLS ID:C2752074 | oxoglutaricaciduria | DOID:0081326 | oxoglutarate dehydrogenase deficiency | OMIM ID:203740 | MONDO:0008759 +BMGC_DS13447,BMG_DS044416,UMLS ID:C2752081 | alpha-2-plasmin inhibitor deficiency | OMIM ID:262850 | ALPHA-2-PLASMIN INHIBITOR DEFICIENCY | MONDO:0009883 | OMIM ID:613168 +BMGC_DS13448,BMG_DS044417,"OMIM ID:201300 | UMLS ID:C2752089 | neuropathy, hereditary sensory and autonomic, type 2A | MONDO:0024309 | Neuropathy, Hereditary Sensory And Autonomic, Type IIA | MeSH ID:C567738" +BMGC_DS13449,BMG_DS044418,"MONDO:0008313 | OMIM ID:176780 | pelvic organ prolapse, susceptibility to | UMLS ID:C2752090" +BMGC_DS13450,BMG_DS044419,"MONDO:0010211 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | OMIM ID:613208 | OMIM ID:278720 | xeroderma pigmentosum group C | UMLS ID:C2752147" +BMGC_DS13451,BMG_DS044420,"MONDO:0007938 | 46,XY sex reversal 4 | OMIM ID:154230 | UMLS ID:C2752149" +BMGC_DS13452,BMG_DS044421,malposition of teeth with or without hypodontia/oligodontia | OMIM ID:189490 | UMLS ID:C2752157 | MONDO:0008581 +BMGC_DS13453,BMG_DS044423,UMLS ID:C2825139 | acute myeloid leukemia with myelodysplasia-related changes | DOID:0081092 +BMGC_DS13454,BMG_DS044424,MONDO:0850271 | UMLS ID:C2825149 | myeloid leukemia associated with down syndrome +BMGC_DS13455,BMG_DS044428,MONDO:0035642 | UMLS ID:C2826048 | mixed phenotype acute leukemia with t(v;11q23.3) +BMGC_DS13456,BMG_DS044429,UMLS ID:C2826169 | DOID:0081080 | acute myeloid leukemia with t(6;9) (p23;q34.1) +BMGC_DS13457,BMG_DS044430,DOID:0081083 | UMLS ID:C2826172 | acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) | acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) | MONDO:0018435 +BMGC_DS13458,BMG_DS044431,UMLS ID:C2826177 | acute myeloid leukemia with mutated NPM1 | DOID:0081089 | MONDO:0044923 +BMGC_DS13459,BMG_DS044439,"OMIM ID:609471 | SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | UMLS ID:C2828721 | hereditary spastic paraplegia 46 | MONDO:0013737 | OMIM ID:614409" +BMGC_DS13460,BMG_DS044440,"OMIM ID:613577 | MONDO:0013826 | DEAFNESS, AUTOSOMAL RECESSIVE 86 | autosomal recessive nonsyndromic hearing loss 86 | OMIM ID:614617 | UMLS ID:C2829265" +BMGC_DS13461,BMG_DS044441,"DEAFNESS, AUTOSOMAL RECESSIVE 88 | MONDO:0014182 | autosomal recessive nonsyndromic hearing loss 88 | OMIM ID:615429 | UMLS ID:C2829267 | OMIM ID:615427" +BMGC_DS13462,BMG_DS044476,Opisthorchiasis | Infection due to Opisthorchis (felineus)(viverrini) | ICD11 ID:1F84 | UMLS ID:C2830279 | ICD10 ID:B66.0 +BMGC_DS13463,BMG_DS044477,UMLS ID:C2830280 | Opisthorchiasis | Infection due to cat liver fluke | ICD11 ID:1F84 | ICD10 ID:B66.0 +BMGC_DS13464,BMG_DS044573,"UMLS ID:C2865399 | ICD11 ID:2E92.4Z | familial adenomatous polyposis 2 | Benign neoplasm of the large intestine, unspecified | Adenomatosis of colon | ICD10 ID:D12.6 | DOID:0080410" +BMGC_DS13465,BMG_DS044592,ICD10 ID:D61 | Other aplastic anemias and other bone marrow failure syndromes | UMLS ID:C2873777 +BMGC_DS13466,BMG_DS044606,"Qualitative platelet defects, unspecified | platelet-type bleeding disorder 18 | ICD10 ID:D69.1 | Bernard-Soulier [giant platelet] syndrome | UMLS ID:C2873804 | ICD11 ID:3B62.Z | DOID:0111051" +BMGC_DS13467,BMG_DS044607,"Thromboasthenia (hemorrhagic) (hereditary) | platelet-type bleeding disorder 18 | Qualitative platelet defects, unspecified | ICD10 ID:D69.1 | UMLS ID:C2873805 | ICD11 ID:3B62.Z | DOID:0111051" +BMGC_DS13468,BMG_DS044610,UMLS ID:C2873813 | ICD10 ID:D71 | Cell membrane receptor complex [CR3] defect +BMGC_DS13469,BMG_DS044616,Other and unspecified diseases of blood and blood-forming organs | UMLS ID:C2873822 | ICD10 ID:D75 +BMGC_DS13470,BMG_DS044617,"ICD10 ID:D75.1 | Polycythemia due to erythropoietin | ICD11 ID:3A81.Z | familial erythrocytosis 2 | Acquired polycythaemia, unspecified | DOID:0060474 | UMLS ID:C2873823" +BMGC_DS13471,BMG_DS044618,"UMLS ID:C2873824 | ICD10 ID:D75.1 | Polycythemia due to stress | ICD11 ID:3A81.Z | Acquired polycythaemia, unspecified | familial erythrocytosis 2 | DOID:0060474" +BMGC_DS13472,BMG_DS044627,"complement component 2 deficiency | complement component 4b deficiency | complement component 9 deficiency | DOID:0060303;DOID:0060302;DOID:0060295;DOID:0060301;DOID:0060298 | type I complement component 8 deficiency | ICD11 ID:4A00.1Z | Defects in the complement system, unspecified | UMLS ID:C2873848 | type II complement component 8 deficiency | ICD10 ID:D84.1 | C1 esterase inhibitor [C1-INH] deficiency" +BMGC_DS13473,BMG_DS044770,Isolated deficiency of pituitary hormone | SNOMEDCT ID:1217051009 | Isolated pituitary hormone deficiency | UMLS ID:C2874188 | Isolated deficiency of pituitary hormone (disorder) +BMGC_DS13474,BMG_DS044771,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 | UMLS ID:C2874190 | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 17 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 | hypogonadotropic hypogonadism 6 with or without anosmia | isolated growth hormone deficiency type IA | Hypopituitarism | 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 | ICD10 ID:E23.0 | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | Pituitary short stature | ICD11 ID:5A61.0 | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia +BMGC_DS13475,BMG_DS044780,"OMIM ID:619613 | MONDO:0859205 | delayed puberty, self-limited | UMLS ID:C2874202 | DELAYED PUBERTY, SELF-LIMITED | OMIM ID:606666" +BMGC_DS13476,BMG_DS044786,UMLS ID:C2874222 | DOID:0070317 | Beriberi with cardiovascular manifestations | wet beriberi | ICD10 ID:E51.12 +BMGC_DS13477,BMG_DS044787,DOID:0070317 | Shoshin disease | UMLS ID:C2874223 | wet beriberi | ICD10 ID:E51.12 +BMGC_DS13478,BMG_DS044823,"UMLS ID:C2874270 | OMIM ID:606869 | GM2-GANGLIOSIDOSIS, ADULT" +BMGC_DS13479,BMG_DS044853,UMLS ID:C2874310 | ICD10 ID:E88 | Other and unspecified metabolic disorders +BMGC_DS13480,BMG_DS044890,"dystonia 27 | ICD10 ID:G24.1 | Familial torsion dystonia | dystonia 21 | UMLS ID:C2875058 | DOID:0090039;DOID:0090034;DOID:0060730;DOID:0090046;DOID:0090041;DOID:0090037;DOID:0090050;DOID:0090055;DOID:0090042;DOID:0090043;DOID:0090057;DOID:0090038 | torsion dystonia 1 | ICD11 ID:8A02.0Z | Primary dystonia, unspecified | 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" +BMGC_DS13481,BMG_DS044895,Disseminated multiple sclerosis | ICD10 ID:G35 | UMLS ID:C2875068 +BMGC_DS13482,BMG_DS044936,"UMLS ID:C2875129 | Epilepsy or seizures, unspecified | ICD11 ID:8A6Z | ICD10 ID:G40.8 | DOID:0060281 | photosensitive epilepsy | Epilepsies and epileptic syndromes undetermined as to whether they are focal or generalized" +BMGC_DS13483,BMG_DS045055,"Charcot-Marie-Tooth disease type 2Y | Charcot-Marie-Tooth disease type 4F | ICD10 ID:G60.0 | Charcot-Marie-Tooth disease type 2J | Charcot-Marie-Tooth disease axonal type 2H | Charcot-Marie-Tooth disease type 4K | 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 | UMLS ID:C2875300 | ICD11 ID:8C20.Z | 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 | Peroneal muscular atrophy (axonal type) (hypertrophic type) | 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 | 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 | Hereditary motor and sensory neuropathy, unspecified | Charcot-Marie-Tooth disease type 4H | Charcot-Marie-Tooth disease axonal type 2T" +BMGC_DS13484,BMG_DS045056,"ICD11 ID:8C4Z | Dominantly inherited sensory neuropathy | hereditary sensory and autonomic neuropathy type 6 | DOID:0070158;DOID:0070149;DOID:0070151 | hereditary sensory neuropathy type 1E | ICD10 ID:G60.8 | UMLS ID:C2875301 | Disorders of nerve root, plexus or peripheral nerves, unspecified | hereditary sensory and autonomic neuropathy type 7" +BMGC_DS13485,BMG_DS045057,"ICD11 ID:8C4Z | hereditary sensory and autonomic neuropathy type 6 | UMLS ID:C2875302 | DOID:0070158;DOID:0070149;DOID:0070151 | hereditary sensory neuropathy type 1E | ICD10 ID:G60.8 | Disorders of nerve root, plexus or peripheral nerves, unspecified | hereditary sensory and autonomic neuropathy type 7 | Nelaton's syndrome" +BMGC_DS13486,BMG_DS045058,"ICD11 ID:8C4Z | hereditary sensory and autonomic neuropathy type 6 | DOID:0070158;DOID:0070149;DOID:0070151 | hereditary sensory neuropathy type 1E | ICD10 ID:G60.8 | Disorders of nerve root, plexus or peripheral nerves, unspecified | Recessively inherited sensory neuropathy | hereditary sensory and autonomic neuropathy type 7 | UMLS ID:C2875303" +BMGC_DS13487,BMG_DS045074,UMLS ID:C2875338 | Paraplegia (paraparesis) and quadriplegia (quadriparesis) | ICD10 ID:G82 +BMGC_DS13488,BMG_DS047090,"ICD11 ID:BD1Z | UMLS ID:C2882277 | Heart failure, unspecified | Cardiac, heart or myocardial failure NOS | ICD10 ID:I50.9" +BMGC_DS13489,BMG_DS047560,SNOMEDCT ID:448421008 | Severe sepsis with acute organ dysfunction caused by Pneumococcus | UMLS ID:C2887084 | Sepsis caused by Streptococcus pneumoniae | Sepsis caused by Streptococcus pneumoniae (disorder) +BMGC_DS13490,BMG_DS047563,UMLS ID:C2887088 | SNOMEDCT ID:448417001 | Sepsis caused by Staphylococcus aureus | Sepsis caused by Staphylococcus aureus (disorder) +BMGC_DS13491,BMG_DS047566,Sepsis caused by Haemophilus influenzae (disorder) | Severe sepsis with acute organ dysfunction caused by Haemophilus influenzae | Sepsis caused by Haemophilus influenzae | UMLS ID:C2887091 | SNOMEDCT ID:447685007 +BMGC_DS13492,BMG_DS047570,Sepsis caused by Pseudomonas | SNOMEDCT ID:448813005 | ICD10 ID:A41.52 | Sepsis caused by Pseudomonas (disorder) | UMLS ID:C2887096 | Severe sepsis with acute organ dysfunction caused by Pseudomonas | Sepsis due to Pseudomonas +BMGC_DS13493,BMG_DS047571,Sepsis caused by Serratia | UMLS ID:C2887097 | SNOMEDCT ID:449084002 | Sepsis caused by Serratia (disorder) | Severe sepsis with acute organ dysfunction caused by Serratia +BMGC_DS13494,BMG_DS047776,Bronchopneumonia due to S. pneumoniae | Streptococcus pneumonia | UMLS ID:C2887412 | ICD10 ID:J13 | DOID:0040084 +BMGC_DS13495,BMG_DS047813,"MONDO:0006502 | Respiratory Distress Syndrome, Acute | Respiratory Distress Syndrome | UMLS ID:C2887484 | acute respiratory distress syndrome | MeSH ID:D012128" +BMGC_DS13496,BMG_DS047847,DOID:0060324 | ICD10 ID:K04.6 | UMLS ID:C2887541 | Periapical abscess with sinus | dental abscess | Dental abscess with sinus | ICD11 ID:DA09.61 +BMGC_DS13497,BMG_DS047848,DOID:0060324 | ICD10 ID:K04.6 | UMLS ID:C2887542 | Periapical abscess with sinus | dental abscess | ICD11 ID:DA09.61 | Dentoalveolar abscess with sinus +BMGC_DS13498,BMG_DS047959,jejunoileitis | UMLS ID:C2887749 | Crohn's disease [regional enteritis] of duodenum | Crohn disease of small intestine | ICD10 ID:K50.0 | ICD11 ID:DD70.1 | gastroduodenal Crohn's disease | DOID:0060191;DOID:0060188 +BMGC_DS13499,BMG_DS047960,jejunoileitis | Crohn disease of small intestine | ICD10 ID:K50.0 | ICD11 ID:DD70.1 | gastroduodenal Crohn's disease | Crohn's disease [regional enteritis] of ileum | UMLS ID:C2887750 | DOID:0060191;DOID:0060188 +BMGC_DS13500,BMG_DS047961,jejunoileitis | Crohn's disease [regional enteritis] of jejunum | UMLS ID:C2887751 | Crohn disease of small intestine | ICD10 ID:K50.0 | ICD11 ID:DD70.1 | gastroduodenal Crohn's disease | DOID:0060191;DOID:0060188 +BMGC_DS13501,BMG_DS048230,ICD10 ID:L22 | Psoriasiform diaper rash | UMLS ID:C2888147 +BMGC_DS13502,BMG_DS048235,Other and unspecified dermatitis | ICD10 ID:L30 | UMLS ID:C2888175 +BMGC_DS13503,BMG_DS048236,Generalised pustular psoriasis | pustular psoriasis 14 | DOID:0080474 | UMLS ID:C2888177 | Von Zumbusch's disease | ICD11 ID:EA90.40 | ICD10 ID:L40.1 +BMGC_DS13504,BMG_DS048618,ICD10 ID:L95.0 | UMLS ID:C2888634 | Atrophie blanche (en plaque) | Livedoid vasculopathy | ICD11 ID:EF50 | DOID:0040099 | livedoid vasculitis +BMGC_DS13505,BMG_DS049585,Post traumatic osteoarthritis | SNOMEDCT ID:699262001 | Post traumatic osteoarthritis (disorder) | UMLS ID:C2894027 +BMGC_DS13506,BMG_DS050995,"ICD10 ID:M79 | Other and unspecified soft tissue disorders, not elsewhere classified | UMLS ID:C2896437" +BMGC_DS13507,BMG_DS051828,UMLS ID:C2902887 | ICD11 ID:GB41 | Nephrotic syndrome with focal and segmental hyalinosis | DOID:0111134;DOID:0111133;DOID:0111132;DOID:0111131;DOID:0111128 | focal segmental glomerulosclerosis 1 | Nephrotic syndrome | ICD10 ID:N04.1 | focal segmental glomerulosclerosis 8 | focal segmental glomerulosclerosis 7 | focal segmental glomerulosclerosis 6 | focal segmental glomerulosclerosis 9 +BMGC_DS13508,BMG_DS051829,ICD11 ID:GB41 | DOID:0111134;DOID:0111133;DOID:0111132;DOID:0111131;DOID:0111128 | focal segmental glomerulosclerosis 1 | Nephrotic syndrome with focal and segmental sclerosis | Nephrotic syndrome | ICD10 ID:N04.1 | focal segmental glomerulosclerosis 8 | focal segmental glomerulosclerosis 7 | focal segmental glomerulosclerosis 9 | focal segmental glomerulosclerosis 6 | UMLS ID:C2902888 +BMGC_DS13509,BMG_DS051830,ICD11 ID:GB41 | DOID:0111134;DOID:0111133;DOID:0111132;DOID:0111131;DOID:0111128 | focal segmental glomerulosclerosis 1 | Nephrotic syndrome with focal glomerulonephritis | UMLS ID:C2902889 | Nephrotic syndrome | ICD10 ID:N04.1 | focal segmental glomerulosclerosis 8 | focal segmental glomerulosclerosis 7 | focal segmental glomerulosclerosis 6 | focal segmental glomerulosclerosis 9 +BMGC_DS13510,BMG_DS051896,UMLS ID:C2903013 | Other and unspecified disorders of prostate | ICD10 ID:N42 +BMGC_DS13511,BMG_DS052027,twin to twin transfusion syndrome | DOID:13576 | twin-to-twin transfusion syndrome | UMLS ID:C2909036 | MONDO:0019805 +BMGC_DS13512,BMG_DS052107,"UMLS ID:C2910157 | DOID:0060670;DOID:0060671 | ICD10 ID:Q28.3 | Congenital cerebral aneurysm (nonruptured) | Structural developmental anomalies of the peripheral vascular system, unspecified | cerebral cavernous malformation 2 | ICD11 ID:LA90.Z | cerebral cavernous malformation 3" +BMGC_DS13513,BMG_DS052120,"Hemimelia of limb NOS | ICD11 ID:LD24.0Z | ICD10 ID:Q73.8 | UMLS ID:C2910324 | Ballard syndrome | brachydactyly-preaxial hallux varus syndrome | brachydactyly type B2 | DOID:0110962;DOID:0110967;DOID:0110975;DOID:0110963 | brachydactyly type A4 | Syndromes with micromelia, unspecified" +BMGC_DS13514,BMG_DS052121,"asphyxiating thoracic dystrophy 3 | asphyxiating thoracic dystrophy | ICD11 ID:LD24.BZ | short-rib thoracic dysplasia 8 with or without polydactyly | Short rib syndromes, unspecified | DOID:0110095;DOID:0110088;DOID:0110092;DOID:0110085;DOID:0050592;DOID:0110087;DOID:0110090;DOID:0110094;DOID:0110089;DOID:0110093 | asphyxiating thoracic dystrophy 1 | asphyxiating thoracic dystrophy 4 | Asphyxiating thoracic dysplasia [Jeune] | short-rib thoracic dysplasia 6 with or without polydactyly | asphyxiating thoracic dystrophy 5 | UMLS ID:C2910340 | short-rib thoracic dysplasia 13 with or without polydactyly | ICD10 ID:Q77.2 | short-rib thoracic dysplasia 11 with or without polydactyly | short-rib thoracic dysplasia 7 with or without polydactyly" +BMGC_DS13515,BMG_DS052123,"Structural developmental anomalies of the skin, unspecified | autosomal recessive cutis laxa type IIIA | autosomal recessive cutis laxa type IIC | Inherited keratosis palmaris et plantaris | ICD10 ID:Q82.8 | autosomal recessive cutis laxa type IIA | ICD11 ID:LC7Z | autosomal recessive cutis laxa type IIB | autosomal recessive cutis laxa type IA | autosomal recessive cutis laxa type IID | autosomal dominant cutis laxa 1 | autosomal recessive cutis laxa type II classic type | 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 | autosomal dominant cutis laxa | autosomal recessive cutis laxa type IIIB | autosomal dominant cutis laxa 3 | autosomal recessive cutis laxa type IB | UMLS ID:C2910342 | autosomal dominant cutis laxa 2" +BMGC_DS13516,BMG_DS052124,"Keratosis follicularis [Darier-White] | Structural developmental anomalies of the skin, unspecified | autosomal recessive cutis laxa type IIIA | autosomal recessive cutis laxa type IIC | ICD10 ID:Q82.8 | autosomal recessive cutis laxa type IIA | ICD11 ID:LC7Z | autosomal recessive cutis laxa type IIB | autosomal recessive cutis laxa type IA | autosomal recessive cutis laxa type IID | UMLS ID:C2910343 | autosomal dominant cutis laxa 1 | autosomal recessive cutis laxa type II classic type | 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 | autosomal dominant cutis laxa | autosomal recessive cutis laxa type IIIB | autosomal dominant cutis laxa 3 | autosomal recessive cutis laxa type IB | autosomal dominant cutis laxa 2" +BMGC_DS13517,BMG_DS052131,ICD10 ID:Q91 | UMLS ID:C2910353 | Trisomy 18 and Trisomy 13 +BMGC_DS13518,BMG_DS052138,"Chimaera 46, XX, 46, XY, unspecified | DOID:0090091 | ICD11 ID:LD56.Z | Malformative disorders of sex development, unspecified | hypogonadotropic hypogonadism 23 with or without anosmia | ICD11 ID:LD2A.Z | UMLS ID:C2910379 | 46, XY with streak gonads | ICD10 ID:Q56.1 | ICD10 ID:Q99.1" +BMGC_DS13519,BMG_DS052232,SNOMEDCT ID:444976001 | Congenital hemolytic uremic syndrome | Congenital haemolytic uraemic syndrome | UMLS ID:C2919522 | Congenital hemolytic uremic syndrome (disorder) +BMGC_DS13520,BMG_DS052236,"UMLS ID:C2919575 | Nonsustained Ventricular Tachycardia | MeSH ID:D017180 | Tachycardia, Ventricular" +BMGC_DS13521,BMG_DS052256,acute myeloid leukemia with t(9;11)(p22;q23) | UMLS ID:C2919692 | MONDO:0018434 +BMGC_DS13522,BMG_DS052268,"MONDO:0009287 | OMIM ID:232200 | SNOMEDCT ID:7265005 | Glycogen storage disease type Ia (disorder) | Glycogen storage disease, type I | Liver glycogen disease | Glycogen storage disease, type I (disorder) | SNOMEDCT ID:444707001 | GSD I | von Gierke's disease | von Gierke disease | Glycogen storage disease type Ia | Hepatorenal glycogen storage disease | UMLS ID:C2919796 | glycogen storage disease due to glucose-6-phosphatase deficiency type IA | Glycogen storage disease, type 1" +BMGC_DS13523,BMG_DS052277,Chronic ulcerative colitis (disorder) | UMLS ID:C2919828 | Ulcerative colitis | Ulcerative colitis (disorder) | Chronic ulcerative colitis | Idiopathic proctocolitis | Colitis gravis | SNOMEDCT ID:64766004 | UC - ulcerative colitis | SNOMEDCT ID:444546002 +BMGC_DS13524,BMG_DS052293,MONDO:0000820 | cerebral cavernous malformation | UMLS ID:C2919945 +BMGC_DS13525,BMG_DS052318,UMLS ID:C2930471 | Bilateral Wilms Tumor | Wilms Tumor | MeSH ID:D009396 +BMGC_DS13526,BMG_DS052322,MeSH ID:D001195 | Asbestosis | Pulmonary Fibrosis - from Asbestos Exposure | UMLS ID:C2930617 +BMGC_DS13527,BMG_DS052323,Sex Differentiation Disorders | disorder of sexual differentiation | UMLS ID:C2930619 | MONDO:0002145 | MeSH ID:D012734 | Disorders of Sex Development +BMGC_DS13528,BMG_DS052327,Familial acanthosis nigricans | familial acanthosis nigricans | MeSH ID:C531598 | MONDO:0043003 | OMIM ID:100600 | UMLS ID:C2930792 +BMGC_DS13529,BMG_DS052330,MeSH ID:C531604 | Primary visual agnosia | UMLS ID:C2930796 | DOID:0060155 | visual agnosia +BMGC_DS13530,BMG_DS052335,MONDO:8000014 | MeSH ID:C531622 | Familial antiphospholipid syndrome | UMLS ID:C2930802 | OMIM ID:107320 | familial antiphospholipid syndrome +BMGC_DS13531,BMG_DS052365,MeSH ID:C531784 | MONDO:0008251 | Familial pityriasis rubra pilaris | familial pityriasis rubra pilaris | OMIM ID:173200 | UMLS ID:C2930842 +BMGC_DS13532,BMG_DS052366,Idiopathic intracranial hypertension with papilledema | MeSH ID:C531795 | UMLS ID:C2930843 +BMGC_DS13533,BMG_DS052367,UMLS ID:C2930844 | Hypopituitarism and septooptic 'dysplasia' | MeSH ID:C531815 +BMGC_DS13534,BMG_DS052378,"Premature ovarian failure, familial | inherited primary ovarian failure | UMLS ID:C2930861 | MeSH ID:C535272 | MONDO:0019852" +BMGC_DS13535,BMG_DS052382,UMLS ID:C2930865 | MONDO:0007737 | MeSH ID:C535284 | OMIM ID:143050 | humeroradial synostosis | Ramer Ladda syndrome | DOID:0060467 +BMGC_DS13536,BMG_DS052383,Ramos Arroyo Clark syndrome | MONDO:0007382 | MeSH ID:C535286 | OMIM ID:122430 | UMLS ID:C2930866 | Ramos-Arroyo syndrome +BMGC_DS13537,BMG_DS052394,"MeSH ID:C535338 | UMLS ID:C2930878 | Cataract, congenital, with microcornea or slight microphthalmia" +BMGC_DS13538,BMG_DS052404,"MeSH ID:C535424 | UMLS ID:C2930896 | Congenital thrombotic disease, due to Protein C deficiency" +BMGC_DS13539,BMG_DS052406,Spasm of eyelids | Blepharospasm (spasm of eyelid) | Benign essential blepharospasm | UMLS ID:C2930898 | SNOMEDCT ID:59026006 | benign essential blepharospasm | MeSH ID:C535428 | MONDO:0011728 | Blepharospasm | Blepharospasm (disorder) | Essential blepharospasm +BMGC_DS13540,BMG_DS052408,UMLS ID:C2930900 | Beta-sarcoglycanopathy | MeSH ID:C535435 | MONDO:0016142 | qualitative or quantitative defects of beta-sarcoglycan +BMGC_DS13541,BMG_DS052417,OMIM ID:616606 | ring chromosome 14 | UMLS ID:C2930916 | MeSH ID:C535487 | MONDO:0014708 | DOID:0070621 | Ring Chromosome 14 Syndrome | ring chromosome 14 syndrome +BMGC_DS13542,BMG_DS052427,MeSH ID:C535554 | abdominal obesity-metabolic syndrome | DOID:0060611 | UMLS ID:C2930930 | MONDO:0000816 | Abdominal obesity metabolic syndrome +BMGC_DS13543,BMG_DS052448,MONDO:0010111 | odontotrichomelic syndrome | UMLS ID:C2930960 | MeSH ID:C535637 | Freire-Maia odontotrichomelic syndrome | OMIM ID:273400 +BMGC_DS13544,BMG_DS052449,MONDO:0009980 | OMIM ID:267900 | UMLS ID:C2930961 | MeSH ID:C535638 | Frenkel Russe syndrome | retinal telangiectasia and hypogammaglobulinemia +BMGC_DS13545,BMG_DS052455,"MONDO:0000386 | UMLS ID:C2930967 | digestive system neuroendocrine tumor, grade 1/2" +BMGC_DS13546,BMG_DS052458,"DOID:0080049 | acromesomelic dysplasia 2C, Hunter-Thompson type | MONDO:0008717 | SNOMEDCT ID:389167007 | MeSH ID:C535658 | Acromesomelic dysplasia Hunter-Thompson type | OMIM ID:201250 | Hunter-Thompson dysplasia | Acromesomelic dysplasia Hunter-Thompson type (disorder) | acromesomelic dysplasia | UMLS ID:C2930970" +BMGC_DS13547,BMG_DS052462,MeSH ID:C535673 | UMLS ID:C2930974 | Acute erythroleukemia +BMGC_DS13548,BMG_DS052463,MeSH ID:C535673 | UMLS ID:C2930975 | Acute erythroleukemia - M6a subtype +BMGC_DS13549,BMG_DS052464,MeSH ID:C535673 | Acute myeloid leukemia FAB-M6 | UMLS ID:C2930976 +BMGC_DS13550,BMG_DS052465,MeSH ID:C535673 | Acute erythroleukemia - M6b subtype | UMLS ID:C2930977 +BMGC_DS13551,BMG_DS052466,Richieri Costa Da Silva syndrome | Richieri Costa-da Silva syndrome | OMIM ID:255710 | MeSH ID:C535675 | UMLS ID:C2930978 | MONDO:0009716 +BMGC_DS13552,BMG_DS052468,"malignant hyperthermia, susceptibility to, 1 | UMLS ID:C2930980 | MONDO:0007783 | OMIM ID:145600" +BMGC_DS13553,BMG_DS052469,"UMLS ID:C2930981 | malignant hyperthermia, susceptibility to, 2 | OMIM ID:154275 | MONDO:0007939" +BMGC_DS13554,BMG_DS052470,"malignant hyperthermia, susceptibility to, 3 | MONDO:0007940 | OMIM ID:154276 | UMLS ID:C2930982" +BMGC_DS13555,BMG_DS052472,"UMLS ID:C2930989 | MeSH ID:C535710 | Maple syrup urine disease, type 1A" +BMGC_DS13556,BMG_DS052473,"Maple syrup urine disease, type 1B | MeSH ID:C535711 | UMLS ID:C2930990 | MONDO:0023692 | maple syrup urine disease type 1B | OMIM ID:620698" +BMGC_DS13557,BMG_DS052476,Familial duodenal atresia | DOID:0080216 | MeSH ID:C535720 | UMLS ID:C2930994 | duodenal atresia +BMGC_DS13558,BMG_DS052477,dyschromatosis universalis hereditaria | Dyschromatosis universalis hereditaria | UMLS ID:C2930995 | MONDO:0000736 | MeSH ID:C535730 | DOID:0060304 +BMGC_DS13559,BMG_DS052479,MONDO:0011291 | ALG6-congenital disorder of glycosylation 1C | MeSH ID:C535741 | UMLS ID:C2930997 | OMIM ID:603147 | Congenital disorder of glycosylation type 1C +BMGC_DS13560,BMG_DS052480,UMLS ID:C2931001 | MONDO:0011783 | Congenital disorder of glycosylation type Ig | SNOMEDCT ID:711155008 | ALG12-congenital disorder of glycosylation (disorder) | MeSH ID:C535745 | Congenital disorder of glycosylation type 1G | OMIM ID:607143 | ALG12-congenital disorder of glycosylation +BMGC_DS13561,BMG_DS052481,MeSH ID:C535746 | OMIM ID:608104 | ALG8-congenital disorder of glycosylation | MONDO:0011969 | Congenital disorder of glycosylation type 1H | UMLS ID:C2931002 +BMGC_DS13562,BMG_DS052482,MeSH ID:C535748 | MONDO:0011964 | OMIM ID:608093 | UMLS ID:C2931004 | Congenital disorder of glycosylation type 1J | DPAGT1-congenital disorder of glycosylation +BMGC_DS13563,BMG_DS052483,SNOMEDCT ID:720941007 | ALG1 congenital disorder of glycosylation | MONDO:0012052 | MeSH ID:C535749 | Mannosyltransferase 1 deficiency | ALG1-CDG - asparagine-linked glycosylation 1 congenital disorder of glycosylation | OMIM ID:608540 | Asparagine-linked glycosylation 1 congenital disorder of glycosylation | ALG1-congenital disorder of glycosylation | UMLS ID:C2931005 | Congenital disorder of glycosylation type 1K | Carbohydrate deficient glycoprotein syndrome type Ik | Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder) +BMGC_DS13564,BMG_DS052484,OMIM ID:608776 | SNOMEDCT ID:720978005 | Congenital disorder of glycosylation type IL | MeSH ID:C535750 | Mannosyltransferase 7-9 deficiency | Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) | ALG9 congenital disorder of glycosylation | Congenital disorder of glycosylation type 1L | ALG9-congenital disorder of glycosylation | Asparagine-linked glycosylation 9 congenital disorder of glycosylation | MONDO:0012117 | Carbohydrate deficient glycoprotein syndrome type IL | UMLS ID:C2931006 | ALG9-CDG - asparagine-linked glycosylation 9 congenital disorder of glycosylation +BMGC_DS13565,BMG_DS052485,MeSH ID:C535751 | Congenital disorder of glycosylation type 1X | STT3B-congenital disorder of glycosylation | UMLS ID:C2931007 | OMIM ID:615597 | MONDO:0014271 +BMGC_DS13566,BMG_DS052486,OMIM ID:212066 | MONDO:0008908 | congenital disorder of glycosylation type IIa | DOID:0070253 | UMLS ID:C2931008 | Congenital disorder of glycosylation type 2A | MGAT2-congenital disorder of glycosylation | MeSH ID:C535752 +BMGC_DS13567,BMG_DS052487,B4GALT1-congenital disorder of glycosylation | MONDO:0011772 | OMIM ID:607091 | DOID:0070256 | Congenital disorder of glycosylation type 2D | MeSH ID:C535753 | UMLS ID:C2931009 | congenital disorder of glycosylation type IId +BMGC_DS13568,BMG_DS052488,MONDO:0012118 | OMIM ID:608779 | UMLS ID:C2931010 | DOID:0070257 | COG7-congenital disorder of glycosylation | Congenital disorder of glycosylation type 2E | MeSH ID:C535754 | congenital disorder of glycosylation type IIe +BMGC_DS13569,BMG_DS052489,"OMIM ID:611209 | UMLS ID:C2931011 | Congenital disorder of glycosylation, type 2G | DOID:0070259 | COG1-congenital disorder of glycosylation | congenital disorder of glycosylation type IIg | MeSH ID:C535756 | MONDO:0012637" +BMGC_DS13570,BMG_DS052491,"MeSH ID:C535765 | MONDO:0009064 | Cystinosis, benign, nonnephropathic | ocular cystinosis | OMIM ID:219750 | UMLS ID:C2931013" +BMGC_DS13571,BMG_DS052496,OMIM ID:183600 | split hand-foot malformation 1 | MONDO:0008464 | UMLS ID:C2931019 +BMGC_DS13572,BMG_DS052505,"familial multiple nevi flammei | MeSH ID:C535816 | Nevi flammei, familial multiple | MONDO:0008094 | UMLS ID:C2931029 | OMIM ID:163000 | DOID:0111529" +BMGC_DS13573,BMG_DS052511,"UMLS ID:C2931035 | MeSH ID:C535832 | Pulmonary alveolar proteinosis, congenital" +BMGC_DS13574,BMG_DS052513,"Pancreatic cancer, adult | MeSH ID:C535836 | UMLS ID:C2931037" +BMGC_DS13575,BMG_DS052514,UMLS ID:C2931038 | OMIM ID:260350 | MONDO:0015278 | familial pancreatic carcinoma +BMGC_DS13576,BMG_DS052517,HPD-gene related hawkinsinuria | hawkinsinuria | 4-Hydroxyphenylpyruvate dioxygenase deficiency | Tyrosinemia type III | UMLS ID:C2931042 | SNOMEDCT ID:414380008 | MONDO:0007700 | Hawkinsinuria | SNOMEDCT ID:403001 | Hawkinsinuria (disorder) | Tyrosinaemia type III | MeSH ID:C535845 | DOID:0111362 | 4-Hydroxyphenylpyruvate hydroxylase deficiency | OMIM ID:140350 | SNOMEDCT ID:297227008 | 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) +BMGC_DS13577,BMG_DS052519,"UMLS ID:C2931046 | Heart defect, tongue hamartoma and polysyndactyly | congenital heart defects, hamartomas of tongue, and polysyndactyly | MeSH ID:C535849 | DOID:0111591" +BMGC_DS13578,BMG_DS052521,DOID:0111588 | OMIM ID:215140 | MeSH ID:C535858 | UMLS ID:C2931048 | MONDO:0008974 | HEM dysplasia | Greenberg dysplasia +BMGC_DS13579,BMG_DS052525,MONDO:0043195 | MeSH ID:C535877 | OMIM ID:180850 | Rubinstein Taybi like syndrome | UMLS ID:C2931052 +BMGC_DS13580,BMG_DS052526,OMIM ID:600145 | Familial caudal dysgenesis (disorder) | Familial caudal dysgenesis | familial caudal dysgenesis | MONDO:0010831 | Rudd Klimek syndrome | MeSH ID:C535879 | UMLS ID:C2931053 | SNOMEDCT ID:722493007 +BMGC_DS13581,BMG_DS052531,UMLS ID:C2931058 | Marfan Syndrome Type 2 | MeSH ID:D008382 | Marfan Syndrome +BMGC_DS13582,BMG_DS052532,Marie Unna syndrome (disorder) | Marie Unna hereditary hypotrichosis | SNOMEDCT ID:254234005 | Marie Unna congenital hypotrichosis | MeSH ID:C535912 | Marie Unna syndrome | MONDO:0018631 | UMLS ID:C2931059 +BMGC_DS13583,BMG_DS052533,UMLS ID:C2931060 | Skeletal dysplasia brachydactyly syndrome | Skeletal dysplasia brachydactyly syndrome (disorder) | MeSH ID:C535914 | Mononen-Karnes-Senac syndrome | Mononen Karnes Senac syndrome | DOID:0110973 | SNOMEDCT ID:733095006 +BMGC_DS13584,BMG_DS052537,UMLS ID:C2931064 | MONDO:0010710 | OMIM ID:311895 | Pierre Robin syndrome-faciodigital anomaly syndrome | Pierre Robin Sequence with Facial and Digital Anomalies | MeSH ID:C564078 +BMGC_DS13585,BMG_DS052540,"Cholestasis, progressive familial intrahepatic 4 | MeSH ID:C535442 | OMIM ID:615878 | UMLS ID:C2931067 | MONDO:0014381 | cholestasis, progressive familial intrahepatic, 4" +BMGC_DS13586,BMG_DS052544,"MONDO:0009181 | OMIM ID:226670 | epidermolysis bullosa simplex 5B, with muscular dystrophy | UMLS ID:C2931072 | Epidermolysa bullosa simplex and limb girdle muscular dystrophy | MeSH ID:C535955" +BMGC_DS13587,BMG_DS052545,"MONDO:0022800 | Collagenopathy, type 2 alpha 1 | type 2 collagenopathy | UMLS ID:C2931073 | MeSH ID:C535964" +BMGC_DS13588,BMG_DS052553,Familial apoceruloplasmin deficiency | MeSH ID:C536004 | UMLS ID:C2931082 +BMGC_DS13589,BMG_DS052562,Maternally Inherited Leigh Syndrome | maternally-inherited Leigh syndrome | MeSH ID:C536035 | UMLS ID:C2931092 | MONDO:0016814 +BMGC_DS13590,BMG_DS052563,"MONDO:0012591 | osteogenesis imperfecta type 5 | OMIM ID:610967 | Osteogenesis Imperfecta, Type V | UMLS ID:C2931093 | MeSH ID:C567042" +BMGC_DS13591,BMG_DS052570,DOID:0050779 | MeSH ID:C536079 | UMLS ID:C2931104 | Hydrolethalus syndrome (disorder) | MONDO:0006037 | Hydrolethalus syndrome | hydrolethalus syndrome | SNOMEDCT ID:721232000 +BMGC_DS13592,BMG_DS052571,"MeSH ID:C536082 | UMLS ID:C2931105 | Hypercalciuria, childhood idiopathic" +BMGC_DS13593,BMG_DS052573,"MONDO:0011088 | congenital myasthenic syndrome 1A | MeSH ID:C536091 | Myasthenic syndrome, congenital, postsynaptic slow-channel | UMLS ID:C2931107 | OMIM ID:601462" +BMGC_DS13594,BMG_DS052577,"MeSH ID:C536105 | Myopia, susceptibility to | UMLS ID:C2931111" +BMGC_DS13595,BMG_DS052578,MONDO:0013598 | myostatin-related muscle hypertrophy | UMLS ID:C2931112 | DOID:0111072 | OMIM ID:614160 +BMGC_DS13596,BMG_DS052582,UMLS ID:C2931116 | Nocardia Infections | MeSH ID:D009617 | Cerebral Nocardiosis +BMGC_DS13597,BMG_DS052583,UMLS ID:C2931117 | MeSH ID:C536139 | Fetal megacystis +BMGC_DS13598,BMG_DS052584,UMLS ID:C2931118 | Megalocytic interstitial nephritis | MeSH ID:C536144 +BMGC_DS13599,BMG_DS052587,MeSH ID:C536148 | renal hypomagnesemia 5 with ocular involvement | Meier Blumberg Imahorn syndrome | UMLS ID:C2931121 | DOID:0060881 +BMGC_DS13600,BMG_DS052588,"OMIM ID:148700 | Keratosis palmoplantaris striata 1 | DOID:0081108 | palmoplantar keratoderma i, striate, focal, or diffuse | UMLS ID:C2931122 | MeSH ID:C536162 | MONDO:0007859 | keratosis palmoplantaris striata 1" +BMGC_DS13601,BMG_DS052589,UMLS ID:C2931123 | OMIM ID:607654 | Keratosis palmoplantaris striata 3 | DOID:0081110 | MONDO:0011881 | keratosis palmoplantaris striata 3 | MeSH ID:C536163 +BMGC_DS13602,BMG_DS052596,OMIM ID:300602 | MONDO:0030914 | OMIM ID:617752 | Clark-Baraitser syndrome | DOID:0080234 | UMLS ID:C2931130 | MeSH ID:C536208 +BMGC_DS13603,BMG_DS052597,"UMLS ID:C2931132 | MONDO:0011725 | Crigler-Najjar syndrome type 2 | OMIM ID:606785 | MeSH ID:C536213 | Crigler Najjar syndrome, type 2" +BMGC_DS13604,BMG_DS052598,Pediatric Crohn's disease | MeSH ID:C536215 | UMLS ID:C2931133 +BMGC_DS13605,BMG_DS052599,"MeSH ID:C536225 | Cutis laxa, recessive | UMLS ID:C2931134" +BMGC_DS13606,BMG_DS052600,UMLS ID:C2931135 | Blepharophimosis syndrome type 1 | MeSH ID:C536233 +BMGC_DS13607,BMG_DS052601,UMLS ID:C2931136 | MeSH ID:C536234 | Blepharophimosis syndrome type 2 +BMGC_DS13608,BMG_DS052605,MONDO:0009647 | MeSH ID:C536247 | Morquio syndrome C | UMLS ID:C2931140 | OMIM ID:252300 | Nonkeratan-sulfate-excreting Morquio syndrome +BMGC_DS13609,BMG_DS052607,UMLS ID:C2931142 | DOID:0050740 | SNOMEDCT ID:721887007 | Puerto Rican infant hypotonia syndrome (disorder) | Dysharmonic skeletal maturation and muscular fiber disproportion syndrome | Puerto Rican infant hypotonia syndrome | Qazi Markouizos syndrome | OMIM ID:600096 | Dysharmonic skeletal maturation and muscular fibre disproportion syndrome | MONDO:0010816 | MeSH ID:C536259 +BMGC_DS13610,BMG_DS052611,OMIM ID:179280 | UMLS ID:C2931146 | Radio renal syndrome | MONDO:0008359 | MeSH ID:C536267 | radio-renal syndrome +BMGC_DS13611,BMG_DS052618,MONDO:0007644 | OMIM ID:137100 | UMLS ID:C2931161 | IgAD1 | Immunoglobulin a deficiency 1 | MeSH ID:C536290 +BMGC_DS13612,BMG_DS052626,MeSH ID:C536312 | UMLS ID:C2931171 | oligoarticular juvenile idiopathic arthritis | Juvenile pauciarticular chronic arthritis | MONDO:0019433 +BMGC_DS13613,BMG_DS052630,"MeSH ID:C536346 | Vestibulocochlear Dysfunction, Progressive | MONDO:0008655 | UMLS ID:C2931176 | OMIM ID:193005 | vestibulocochlear dysfunction, progressive" +BMGC_DS13614,BMG_DS052633,MeSH ID:C536362 | DOID:0111157 | Castleman disease | Angiofollicular ganglionic hyperplasia | UMLS ID:C2931179 +BMGC_DS13615,BMG_DS052634,MeSH ID:C536369 | UMLS ID:C2931180 | Abdominal angiostrongyliasis | DOID:0050256 | angiostrongyliasis +BMGC_DS13616,BMG_DS052635,MeSH ID:C536369 | Intravitreal angiostrongyliasis | DOID:0050256 | UMLS ID:C2931181 | angiostrongyliasis +BMGC_DS13617,BMG_DS052641,MONDO:0100151 | DOID:1064 | nephropathic cystinosis | OMIM ID:219800 | Infantile nephropathic cystinosis | Lignac-Fanconi syndrome | SNOMEDCT ID:62332007 | Infantile nephropathic cystinosis (disorder) | cystinosis | Nephropathic cystinosis | UMLS ID:C2931187 +BMGC_DS13618,BMG_DS052645,UMLS ID:C2931193 | Prinzmetal's variant angina | MeSH ID:C536421 +BMGC_DS13619,BMG_DS052651,MONDO:0003715 | UMLS ID:C2931202 | bladder urachal carcinoma | DOID:5958 +BMGC_DS13620,BMG_DS052653,"Usher syndrome, type 1B | UMLS ID:C2931206 | MeSH ID:C536485 | OMIM ID:276900 | Usher syndrome type 1B | MONDO:0700087" +BMGC_DS13621,BMG_DS052654,"MeSH ID:C536486 | Usher syndrome, type 1C | UMLS ID:C2931207" +BMGC_DS13622,BMG_DS052655,"Usher syndrome, type 1D | MeSH ID:C536487 | UMLS ID:C2931208" +BMGC_DS13623,BMG_DS052657,"Usher syndrome, type 1F | MeSH ID:C536489 | UMLS ID:C2931210" +BMGC_DS13624,BMG_DS052659,"Usher syndrome type 2C | MONDO:0011558 | MeSH ID:C536492 | OMIM ID:605472 | UMLS ID:C2931213 | Usher syndrome, type 2C" +BMGC_DS13625,BMG_DS052660,MONDO:0010109 | OMIM ID:273390 | Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities | tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities | UMLS ID:C2931214 | MeSH ID:C536496 +BMGC_DS13626,BMG_DS052664,Tetraamelia multiple malformations | MeSH ID:C536500 | UMLS ID:C2931218 | MONDO:0010110 | tetraamelia-multiple malformations syndrome +BMGC_DS13627,BMG_DS052669,DOID:0080172 | poor metabolism of thiopurines | UMLS ID:C2931223 | MONDO:0000210 | thiopurine metabolic disease | MeSH ID:C536512 | 6 alpha mercaptopurine sensitivity +BMGC_DS13628,BMG_DS052674,"UMLS ID:C2931228 | OMIM ID:314390 | VACTERL association, X-linked, with or without hydrocephalus | X-linked VACTERL association | DOID:0111766 | VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS | MONDO:0010752" +BMGC_DS13629,BMG_DS052675,"UMLS ID:C2931230 | myopathy, autophagic vacuolar, infantile-onset | MONDO:0012286 | OMIM ID:609500 | MeSH ID:C536522 | OMIM ID:MTHU045596 | Vacuolar myopathy" +BMGC_DS13630,BMG_DS052682,"UMLS ID:C2931238 | triphalangeal thumb, Nonopposable | OMIM ID:190600 | MONDO:0008605" +BMGC_DS13631,BMG_DS052685,OMIM ID:152800 | MeSH ID:C536567 | Waldmann disease | UMLS ID:C2931241 | MONDO:0007916 | primary intestinal lymphangiectasia +BMGC_DS13632,BMG_DS052688,"Craniometaphyseal dysplasia, autosomal recessive type | MeSH ID:C536570 | UMLS ID:C2931244 | OMIM ID:218400 | MONDO:0009035 | craniometaphyseal dysplasia, autosomal recessive" +BMGC_DS13633,BMG_DS052689,bone marrow failure syndrome | UMLS ID:C2931245 | MeSH ID:D000080983 | MONDO:0000159 | Bone Marrow Failure Disorders +BMGC_DS13634,BMG_DS052690,UMLS ID:C2931246 | MONDO:0012574 | OMIM ID:610883 | MeSH ID:C538355 | DOID:0060853 | Potocki-Lupski syndrome +BMGC_DS13635,BMG_DS052691,"chromosome 18q deletion syndrome | MeSH ID:C536580 | DOID:0060407 | UMLS ID:C2931249 | Chromosome 18, monosomy 18Q" +BMGC_DS13636,BMG_DS052695,"MeSH ID:C536586 | Alport syndrome, dominant type | UMLS ID:C2931253" +BMGC_DS13637,BMG_DS052696,"MeSH ID:C536587 | Alport syndrome, recessive type | UMLS ID:C2931254" +BMGC_DS13638,BMG_DS052699,"Leber congenital amaurosis 1 | OMIM ID:204000 | UMLS ID:C2931258 | MONDO:0008764 | MeSH ID:C536600 | Amaurosis congenita of Leber, type 1" +BMGC_DS13639,BMG_DS052701,MONDO:0031037 | UMLS ID:C2931263 | famililal cerebral cavernous malformations +BMGC_DS13640,BMG_DS052704,UMLS ID:C2931268 | scapuloperoneal myopathy | MeSH ID:C536624 | MONDO:0000727 | DOID:0060253 | Scapuloperoneal myopathy +BMGC_DS13641,BMG_DS052711,hereditary spastic paraplegia 17 | Spastic paraplegia 17 | MONDO:0010043 | OMIM ID:270685 | MeSH ID:C536644 | UMLS ID:C2931276 +BMGC_DS13642,BMG_DS052714,MeSH ID:C536660 | UMLS ID:C2931280 | Alopecia and intellectual disability syndrome (disorder) | SNOMEDCT ID:716191002 | Perniola Krajewska Carnevale syndrome | MONDO:0008756 | Alopecia and intellectual disability syndrome | alopecia - intellectual disability syndrome +BMGC_DS13643,BMG_DS052722,"UMLS ID:C2931290 | Welander distal myopathy, Swedish type | MeSH ID:C536690" +BMGC_DS13644,BMG_DS052723,spastic paraplegia with deafness | MeSH ID:C536692 | Spastic paraparesis co-occurrent with deafness | OMIM ID:312910 | SNOMEDCT ID:715504003 | UMLS ID:C2931291 | Spastic paraparesis co-occurrent with deafness (disorder) | MONDO:0010732 | DOID:0081100 | Wells Jankovic syndrome | spastic paraparesis-deafness syndrome | Spastic paraparesis and deafness +BMGC_DS13645,BMG_DS052728,"MONDO:0010802 | OMIM ID:600001 | UMLS ID:C2931296 | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | SNOMEDCT ID:722206009 | Yorifuji Okuno syndrome | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | MeSH ID:C536714 | pancreatic hypoplasia-diabetes-congenital heart disease syndrome" +BMGC_DS13646,BMG_DS052731,Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency | SNOMEDCT ID:716378008 | Combined immunodeficiency due to ZAP70 (Zeta-chain associated protein kinase 70) deficiency | Combined immunodeficiency due to ZAP70 deficiency | UMLS ID:C2931299 | Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) +BMGC_DS13647,BMG_DS052736,UMLS ID:C2931307 | Woods Leversha Rogers syndrome | MeSH ID:C536744 | intrauterine growth retardation with increased mitomycin c sensitivity | OMIM ID:600546 | MONDO:0010900 +BMGC_DS13648,BMG_DS052744,T cell immunodeficiency primary | MeSH ID:C536780 | UMLS ID:C2931320 +BMGC_DS13649,BMG_DS052754,glycogen storage disease type 1 due to SLC37A4 mutation | Glucose-6-phosphate translocase deficiency | MONDO:0023258 | MeSH ID:C536831 | UMLS ID:C2931345 +BMGC_DS13650,BMG_DS052757,MONDO:0023119 | MeSH ID:C536848 | UMLS ID:C2931351 | familial myelofibrosis | Familial myelofibrosis +BMGC_DS13651,BMG_DS052760,"UMLS ID:C2931355 | MONDO:0008437 | hereditary spastic paraplegia 3A | OMIM ID:182600 | Spastic paraplegia 3, autosomal dominant | MeSH ID:C536864" +BMGC_DS13652,BMG_DS052783,OMIM ID:252350 | MeSH ID:C536991 | Moyamoya disease 1 | UMLS ID:C2931384 | MONDO:0009649 | moyamoya disease 1 +BMGC_DS13653,BMG_DS052793,"UMLS ID:C2931395 | Bulbospinal neuronopathy, X-linked recessive | MeSH ID:C537017" +BMGC_DS13654,BMG_DS052798,UMLS ID:C2931400 | MeSH ID:C537030 | Familial lipomyelomeningocele +BMGC_DS13655,BMG_DS052799,SNOMEDCT ID:1208866002 | MeSH ID:C537034 | Long QT syndrome type 3 | Long QT syndrome type 3 (disorder) | UMLS ID:C2931401 +BMGC_DS13656,BMG_DS052813,MeSH ID:C537079 | UMLS ID:C2931418 | Bare lymphocyte syndrome 2 +BMGC_DS13657,BMG_DS052815,"brachydactylous dwarfism, Mseleni type | Mseleni joint disease | OMIM ID:613342 | UMLS ID:C2931420 | MONDO:0013232 | Brachydactylous dwarfism Mseleni type | MeSH ID:C537086 | SNOMEDCT ID:715470008 | Brachydactylous dwarfism Mseleni type (disorder)" +BMGC_DS13658,BMG_DS052819,Orofaciodigital syndrome type1 | MeSH ID:C537134 | UMLS ID:C2931426 +BMGC_DS13659,BMG_DS052825,UMLS ID:C2931434 | Paraquat lung | MeSH ID:C537171 +BMGC_DS13660,BMG_DS052831,"OMIM ID:607225 | infantile-onset ascending hereditary spastic paralysis | MONDO:0011797 | Hereditary spastic paralysis, infantile onset ascending | UMLS ID:C2931441 | MeSH ID:C537217" +BMGC_DS13661,BMG_DS052845,"prosopagnosia, hereditary | MONDO:0012484 | MeSH ID:C537242 | Prosopagnosia, hereditary | UMLS ID:C2931455 | OMIM ID:610382" +BMGC_DS13662,BMG_DS052846,"OMIM ID:176807 | UMLS ID:C2931456 | MONDO:0700275 | prostate cancer, hereditary" +BMGC_DS13663,BMG_DS052848,Lynch syndrome I (site-specific colonic cancer) | UMLS ID:C2931459 | MeSH ID:C537261 +BMGC_DS13664,BMG_DS052850,Cardiospondylocarpofacial syndrome (disorder) | MONDO:0008005 | Mitral regurgitation with deafness and skeletal anomalies syndrome | OMIM ID:157800 | Forney syndrome | Forney Robinson Pascoe syndrome | MeSH ID:C537269 | SNOMEDCT ID:720612000 | cardiospondylocarpofacial syndrome | Cardiospondylocarpofacial syndrome | UMLS ID:C2931461 +BMGC_DS13665,BMG_DS052853,SNOMEDCT ID:232373003 | radial ray hypoplasia-choanal atresia syndrome | Choanal atresia with radial ray hypoplasia | Choanal atresia with radial ray hypoplasia (disorder) | MeSH ID:C537280 | Goldblatt Viljoen syndrome | UMLS ID:C2931464 | OMIM ID:179270 | MONDO:0008358 +BMGC_DS13666,BMG_DS052865,MeSH ID:C537381 | Multiple system atrophy (MSA) with orthostatic hypotension | UMLS ID:C2931478 +BMGC_DS13667,BMG_DS052867,"MONDO:0008080 | UMLS ID:C2931480 | neurofibromatosis, type III, mixed central and peripheral | Neurofibromatosis, Type 3, mixed central and peripheral | OMIM ID:162260 | MeSH ID:C537389" +BMGC_DS13668,BMG_DS052869,UMLS ID:C2931482 | MeSH ID:C537393 | neurofibromatosis-Noonan syndrome | MONDO:0011035 | OMIM ID:601321 | Neurofibromatosis-Noonan syndrome | DOID:0111683 +BMGC_DS13669,BMG_DS052875,Zlotogora-Ogur syndrome | MONDO:0009151 | cleft lip/palate-ectodermal dysplasia syndrome | OMIM ID:225060 | MeSH ID:C536726 | UMLS ID:C2931488 +BMGC_DS13670,BMG_DS052882,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | OMIM ID:300522 | UMLS ID:C2931498 | intellectual disability, X-linked 1 | OMIM ID:309530 | non-syndromic X-linked intellectual disability 1 | DOID:0112038 | MONDO:0010656" +BMGC_DS13671,BMG_DS052884,"MeSH ID:C537462 | microphthalmia, isolated, with coloboma | Microphthalmia and mental deficiency | UMLS ID:C2931500 | MONDO:0000170" +BMGC_DS13672,BMG_DS052886,"OMIM ID:251800 | Microtia, meatal atresia and conductive deafness | MeSH ID:C537469 | MONDO:0009634 | microtia with meatal atresia and conductive deafness | UMLS ID:C2931502" +BMGC_DS13673,BMG_DS052942,UMLS ID:C2931574 | MONDO:0015571 | deletion 5q35 +BMGC_DS13674,BMG_DS052943,MONDO:0021979 | UMLS ID:C2931577 | Basaran Yilmaz syndrome | MeSH ID:C537660 +BMGC_DS13675,BMG_DS052949,SNOMEDCT ID:1156813002 | UMLS ID:C2931585 | Gaucher's disease type 3C | Cardiovascular Gaucher disease | Gaucher disease with ophthalmoplegia and cardiovascular calcification | Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) | MeSH ID:C537675 | Gaucher-like disease +BMGC_DS13676,BMG_DS052980,"MONDO:0016658 | UMLS ID:C2931638 | MeSH ID:C537827 | 8p23.1 microdeletion syndrome | Chromosome 8, monosomy 8p23 1" +BMGC_DS13677,BMG_DS052984,O'Donnell Pappas syndrome | UMLS ID:C2931644 | Foveal hypoplasia with presenile cataract syndrome (disorder) | MONDO:0016395 | MeSH ID:C537858 | Foveal hypoplasia with presenile cataract syndrome | foveal hypoplasia-presenile cataract syndrome | SNOMEDCT ID:778042000 +BMGC_DS13678,BMG_DS052987,UMLS ID:C2931647 | MONDO:0010093 | Laplane Fontaine Lagardere syndrome | MeSH ID:C537869 | OMIM ID:272450 | syndesmodysplasic dwarfism +BMGC_DS13679,BMG_DS052988,"Larsen syndrome, dominant type | MeSH ID:C537873 | UMLS ID:C2931648" +BMGC_DS13680,BMG_DS052996,MeSH ID:C537893 | Phacomatosis pigmentokeratotica | MONDO:0017317 | phakomatosis pigmentokeratotica | UMLS ID:C2931658 +BMGC_DS13681,BMG_DS053000,"Congenital intrauterine infection-like syndrome | Bilateral band-like calcification with polymicrogyria | Pseudo-TORCH syndrome | SNOMEDCT ID:722390006 | Baraitser Brett Piesowicz syndrome | MeSH ID:C537905 | Congenital intrauterine infection-like syndrome (disorder) | UMLS ID:C2931662 | Microcephaly, intracranial calcification, intellectual disability syndrome" +BMGC_DS13682,BMG_DS053007,"UMLS ID:C2931672 | ABeta amyloidosis, dutch type | MONDO:0015033 | Cerebral hemorrhage with amyloidosis, hereditary, Dutch type | MeSH ID:C537944" +BMGC_DS13683,BMG_DS053008,"MeSH ID:C537948 | Ceroid lipofuscinosis, neuronal 1, infantile | UMLS ID:C2931673" +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,"UMLS ID:C2931686 | MeSH ID:C537986 | Charcot-Marie-Tooth disease, Type 1E" +BMGC_DS13686,BMG_DS053019,ICD10 ID:G71.033 | MONDO:0016145 | MeSH ID:C537995 | qualitative or quantitative defects of dysferlin | Dysferlinopathy | UMLS ID:C2931687 +BMGC_DS13687,BMG_DS053020,MONDO:0011266 | UMLS ID:C2931689 | OMIM ID:602668 | myotonic dystrophy type 2 +BMGC_DS13688,BMG_DS053031,"MeSH ID:C538050 | UMLS ID:C2931716 | Deafness, autosomal dominant nonsyndromic sensorineural 17" +BMGC_DS13689,BMG_DS053035,MeSH ID:C538063 | Fronto-facio-nasal dysplasia | Frontofacionasal dysplasia syndrome (disorder) | Gollop syndrome | frontofacionasal dysplasia | OMIM ID:229400 | SNOMEDCT ID:716022002 | UMLS ID:C2931720 | Frontofacionasal dysplasia syndrome | MONDO:0009247 +BMGC_DS13690,BMG_DS053050,UMLS ID:C2931743 | Lactate dehydrogenase deficiency type A | OMIM ID:612933 | MeSH ID:C538133 | MONDO:0013047 | glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +BMGC_DS13691,BMG_DS053053,DOID:0111270 | SNOMEDCT ID:40873003 | Sulphite oxidase deficiency syndrome | Sulphocysteinuria | MeSH ID:C538141 | isolated sulfite oxidase deficiency | Sulfite oxidase deficiency syndrome (disorder) | Sulfite oxidase deficiency syndrome | Sulfocysteinuria | UMLS ID:C2931746 +BMGC_DS13692,BMG_DS053062,DOID:0080941 | acquired angioedema | MeSH ID:C538173 | Acquired angioedema | UMLS ID:C2931758 | MONDO:0019624 +BMGC_DS13693,BMG_DS053066,"OMIM ID:101805 | MONDO:0007045 | acrofacial dysostosis, Catania type | UMLS ID:C2931762 | MeSH ID:C538182 | Acrofacial dysostosis Catania form | DOID:0060384" +BMGC_DS13694,BMG_DS053071,"Deafness, autosomal dominant nonsyndromic sensorineural 22 | UMLS ID:C2931767 | OMIM ID:606346 | MONDO:0011660 | autosomal dominant nonsyndromic hearing loss 22 | MeSH ID:C538197" +BMGC_DS13695,BMG_DS053082,MeSH ID:C538234 | adenosine monophosphate deaminase deficiency | MONDO:0013028 | UMLS ID:C2931781 | Adenosine monophosphate deaminase deficiency +BMGC_DS13696,BMG_DS053083,amelogenesis imperfecta type 1G | MeSH ID:C538241 | MONDO:0008771 | OMIM ID:204690 | OMIM ID:614253 | Amelogenesis imperfecta nephrocalcinosis | UMLS ID:C2931783 +BMGC_DS13697,BMG_DS053084,MeSH ID:C538248 | Amyloid angiopathy | UMLS ID:C2931784 +BMGC_DS13698,BMG_DS053085,"MONDO:0011951 | MeSH ID:C538251 | amyotrophic lateral sclerosis type 6 | Amyotrophic lateral sclerosis, type 6 | OMIM ID:608030 | UMLS ID:C2931786" +BMGC_DS13699,BMG_DS053086,familial atrial myxoma | UMLS ID:C2931787 | MONDO:0009719 | OMIM ID:255960 +BMGC_DS13700,BMG_DS053087,MeSH ID:D065766 | DOID:0080301 | UMLS ID:C2931788 | Atypical Hemolytic Uremic Syndrome | MONDO:0016244 | atypical hemolytic-uremic syndrome +BMGC_DS13701,BMG_DS053098,2q24 microdeletion syndrome | UMLS ID:C2931816 | MONDO:0015566 +BMGC_DS13702,BMG_DS053099,MeSH ID:C538317 | Albright hereditary osteodystrophy-like syndrome | DOID:0111704 | 2q37 microdeletion syndrome | chromosome 2q37 deletion syndrome | MONDO:0010886 | Chromosome 2q37 deletion syndrome (disorder) | Chromosome 2q37 deletion syndrome | Brachydactyly mental retardation syndrome | OMIM ID:600430 | 2q37 deletion syndrome | UMLS ID:C2931817 | SNOMEDCT ID:702357000 +BMGC_DS13703,BMG_DS053103,"MeSH ID:C538335 | Autosomal recessive spastic paraplegia type 11 (disorder) | Nakamura Osame syndrome | Spastic paraplegia, intellectual disability and thin corpus callosum | Autosomal recessive spastic paraplegia type 11 | UMLS ID:C2931821 | SNOMEDCT ID:715491000" +BMGC_DS13704,BMG_DS053104,UMLS ID:C2931822 | MONDO:0015459 | nasopharyngeal carcinoma +BMGC_DS13705,BMG_DS053108,OMIM ID:608390 | MeSH ID:C538353 | potassium-aggravated myotonia | SNOMEDCT ID:702355008 | Potassium aggravated myotonia | Sodium channel myotonia | UMLS ID:C2931826 | MONDO:0018959 | Potassium aggravated myotonia (disorder) +BMGC_DS13706,BMG_DS053112,UMLS ID:C2931831 | MONDO:0009978 | OMIM ID:267760 | retinal degeneration-nanophthalmos-glaucoma syndrome | MeSH ID:C538364 | MacKay Shek Carr syndrome +BMGC_DS13707,BMG_DS053113,"UMLS ID:C2931832 | OMIM ID:256450 | MONDO:0009734 | hyperinsulinemic hypoglycemia, familial, 1" +BMGC_DS13708,BMG_DS053114,"UMLS ID:C2931833 | hyperinsulinemic hypoglycemia, familial, 2 | MONDO:0011153 | OMIM ID:601820" +BMGC_DS13709,BMG_DS053115,Hyperprolinaemia type II | DOID:0080543 | UMLS ID:C2931835 | hyperprolinemia type 2 | MONDO:0009401 | MeSH ID:C538385 | Hyperprolinemia type 2 | Hyperprolinaemia type 2 | Hyperprolinemia type II | Hyperprolinemia type 2 (disorder) | OMIM ID:239510 | SNOMEDCT ID:717181004 +BMGC_DS13710,BMG_DS053116,Familial hypertryptophanemia | DOID:0111703 | OMIM ID:600627 | Familial hypertryptophanaemia | Familial hypertryptophanemia (disorder) | UMLS ID:C2931837 | SNOMEDCT ID:721838005 | MONDO:0010907 | familial hypertryptophanemia +BMGC_DS13711,BMG_DS053117,Analphaliproteinemia | Familial hypoalphalipoproteinemia | Analphalipoproteinemia | Familial HDL deficiency | A - alphalipoproteinemia neuropathy | Familial hypoalphalipoproteinemia (disorder) | SNOMEDCT ID:15346004 | Analphaliproteinaemia | Alphalipoproteinaemia neuropathy | Alphalipoproteinemia neuropathy | Cholesterol thesaurismosis | Familial hypoalphalipoproteinaemia | A - alphalipoproteinaemia neuropathy | Analphalipoproteinaemia | Familial high density lipoprotein deficiency | UMLS ID:C2931838 +BMGC_DS13712,BMG_DS053121,MeSH ID:C538417 | Spinal muscular atrophy 4 | UMLS ID:C2931844 +BMGC_DS13713,BMG_DS053122,UMLS ID:C2931845 | DOID:0110734 | MeSH ID:C538421 | MONDO:0018307 | Neurodegeneration with brain iron accumulation (NBIA) | neurodegeneration with brain iron accumulation +BMGC_DS13714,BMG_DS053127,Diamond-Blackfan anemia 6 | MONDO:0012937 | DOID:0111879 | MeSH ID:C538442 | OMIM ID:612561 | UMLS ID:C2931850 | Aase Smith syndrome 2 +BMGC_DS13715,BMG_DS053138,MONDO:0018829 | familial schizencephaly | Familial schizencephaly | UMLS ID:C2931870 | MeSH ID:C538514 +BMGC_DS13716,BMG_DS053140,Free sialic acid storage disease | MeSH ID:C538523 | MONDO:0019366 | UMLS ID:C2931872 | free sialic acid storage disease +BMGC_DS13717,BMG_DS053143,Hermansky-Pudlak syndrome 1 | MONDO:0008748 | UMLS ID:C2931875 | MeSH ID:C538539 | OMIM ID:203300 | Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells +BMGC_DS13718,BMG_DS053149,"Reticuloendotheliosis, familial, with eosinophilia | UMLS ID:C2931884 | MeSH ID:C538564" +BMGC_DS13719,BMG_DS053152,Pfeiffer type acrocephalosyndactyly | MeSH ID:C538582 | UMLS ID:C2931888 +BMGC_DS13720,BMG_DS053155,"OMIM ID:256000 | MeSH ID:C538590 | Leigh syndrome | UMLS ID:C2931891 | Necrotizing encephalopathy, infantile subacute, of Leigh | MONDO:0009723" +BMGC_DS13721,BMG_DS053163,UMLS ID:C2931907 | autosomal recessive limb-girdle muscular dystrophy | MONDO:0015152 | MeSH ID:C538640 | Limb-girdle muscular dystrophy autosomal recessive +BMGC_DS13722,BMG_DS053175,MONDO:0017672 | UMLS ID:C2931923 | MeSH ID:C538682 | Hyperkeratosis of the palms and soles and esophageal papillomas | DOID:0111708 | focal nonepidermolytic palmoplantar keratoderma | focal palmoplantar keratoderma +BMGC_DS13723,BMG_DS053178,UMLS ID:C2931928 | MeSH ID:C540770 | SNOMEDCT ID:240096000 | Mitochondrial cytopathy | Mitochondrial cytopathy (disorder) | Mitochondrial disease +BMGC_DS13724,BMG_DS053182,gestational diabetes insipidus | DOID:0081057 | MONDO:0023227 | UMLS ID:C2932666 | Gestational Diabetes Insipidus | MeSH ID:C548014 +BMGC_DS13725,BMG_DS053184,MeSH ID:C548028 | UMLS ID:C2932678 | Inherited Peripheral Neuropathy +BMGC_DS13726,BMG_DS053187,pontocerebellar hypoplasia type 2 | DOID:0112328 | MeSH ID:C548070 | MONDO:0016759 | UMLS ID:C2932714 | Pontocerebellar Hypoplasia Type 2 +BMGC_DS13727,BMG_DS053188,OMIM ID:612462 | Pseudohypoparathyroidism Type 1C | UMLS ID:C2932716 | pseudohypoparathyroidism type 1C | MONDO:0012911 | MeSH ID:C548076 +BMGC_DS13728,BMG_DS053189,OMIM ID:203330 | Pseudohypoparathyroidism Type 2 | UMLS ID:C2932717 | pseudohypoparathyroidism type 2 | MONDO:0008749 | MeSH ID:C548077 +BMGC_DS13729,BMG_DS053199,MONDO:0016140 | Sarcoglycanopathies | sarcoglycanopathy | UMLS ID:C2936331 | MeSH ID:D058088 +BMGC_DS13730,BMG_DS053200,OMIM ID:608099 | UMLS ID:C2936332 | MONDO:0011968 | Alpha-Sarcoglycanopathies | Sarcoglycanopathies | autosomal recessive limb-girdle muscular dystrophy type 2D | MeSH ID:D058088 +BMGC_DS13731,BMG_DS053201,MeSH ID:D058165 | 22q11 Deletion Syndrome | UMLS ID:C2936346 +BMGC_DS13732,BMG_DS053202,"MONDO:0017576 | 46, XX Disorders of Sex Development | UMLS ID:C2936403 | MeSH ID:D058489 | 46,XX disorder of sex development" +BMGC_DS13733,BMG_DS053203,DOID:0050560 | MeSH ID:D058494 | qualitative or quantitative defects of alpha-dystroglycan | MONDO:0018282 | alpha-Dystroglycanopathies | Walker-Warburg Syndrome | UMLS ID:C2936406 | Walker-Warburg syndrome +BMGC_DS13734,BMG_DS053204,"46,XX sex reversal | UMLS ID:C2936419 | 46,XX testicular disorder of sex development | DOID:0111760 | 46, XX Testicular Disorders of Sex Development | MeSH ID:D058531 | MONDO:0100249" +BMGC_DS13735,BMG_DS053207,Sacroiliitis | UMLS ID:C2936444 | MeSH ID:D058566 | Pyogenic Sacroiliitis +BMGC_DS13736,BMG_DS053208,Sacroiliitis | MeSH ID:D058566 | Septic Sacroiliitis | UMLS ID:C2936445 +BMGC_DS13737,BMG_DS053210,UMLS ID:C2936476 | Chronic Liver Failure | chronic liver failure | MeSH ID:D058625 | End Stage Liver Disease | MONDO:0100193 +BMGC_DS13738,BMG_DS053211,CHARGE syndrome | CHARGE Syndrome | DOID:0050834 | MeSH ID:D058747 | Familial CHARGE Syndrome | UMLS ID:C2936502 +BMGC_DS13739,BMG_DS053215,Acquired Hypogammaglobulinemia | UMLS ID:C2936664 | Common Variable Immunodeficiency | MeSH ID:D017074 +BMGC_DS13740,BMG_DS053216,"UMLS ID:C2936665 | Immunoglobulin Deficiency, Late-Onset | Common Variable Immunodeficiency | MeSH ID:D017074" +BMGC_DS13741,BMG_DS053217,"46,XY complete gonadal dysgenesis | Swyer Syndrome | MeSH ID:D006061 | MONDO:0010765 | Gonadal Dysgenesis, 46,XY | UMLS ID:C2936694" +BMGC_DS13742,BMG_DS053219,DOID:0060165 | UMLS ID:C2936703 | Familial Kleine-Levin Syndrome | Kleine-Levin syndrome | MeSH ID:D017593 | Kleine-Levin Syndrome +BMGC_DS13743,BMG_DS053220,"Hyper-Immunoglobulin E Syndrome, Autosomal Dominant | UMLS ID:C2936739 | MeSH ID:D007589 | Job Syndrome | DOID:3261 | hyper IgE recurrent infection syndrome 1" +BMGC_DS13744,BMG_DS053221,"MONDO:0015028 | 48,XXYY Syndrome | Klinefelter Syndrome | UMLS ID:C2936741 | MeSH ID:D007713 | 48,XXYY syndrome" +BMGC_DS13745,BMG_DS053223,UMLS ID:C2936755 | lymphoplasmacytic lymphoma | DOID:0060901 +BMGC_DS13746,BMG_DS053224,Nevo syndrome | MeSH ID:C536113 | UMLS ID:C2936777 +BMGC_DS13747,BMG_DS053226,"Hydroxymethylbilane Synthase Deficiency | Porphyria, Acute Intermittent | UMLS ID:C2936779 | MeSH ID:D017118" +BMGC_DS13748,BMG_DS053227,"MeSH ID:D009224 | UMLS ID:C2936781 | Thomsen and Becker disease | MONDO:0009710;MONDO:0008055 | myotonia congenita, autosomal dominant | Generalized Myotonia of Thomsen | Myotonia Congenita | OMIM ID:160800" +BMGC_DS13749,BMG_DS053228,Lynch syndrome 1 | OMIM ID:120435 | UMLS ID:C2936783 | MONDO:0007356 | DOID:0070271 +BMGC_DS13750,BMG_DS053229,"Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | MONDO:0020667 | Antley-Bixler Syndrome, Autosomal Dominant | MeSH ID:D054882 | OMIM ID:207410 | Antley-Bixler Syndrome Phenotype | UMLS ID:C2936791" +BMGC_DS13751,BMG_DS053230,MONDO:0013241 | UMLS ID:C2936793 | Spinocerebellar ataxia 30 | spinocerebellar ataxia type 30 | MeSH ID:C575214 | OMIM ID:613371 +BMGC_DS13752,BMG_DS053232,fumarase deficiency | UMLS ID:C2936826 | DOID:0111261 +BMGC_DS13753,BMG_DS053233,Focal facial dermal dysplasia (disorder) | FFDD - focal facial dermal dysplasia | MONDO:0018363 | Goltz-Gorlin syndrome | UMLS ID:C2936827 | focal facial dermal dysplasia | Goltz Gorlin syndrome | Goltz-Gorlin (dermal hypoplasia) syndrome | Goltz syndrome | SNOMEDCT ID:789156003 | Focal facial dermal dysplasia | Goltz syndrome (disorder) | SNOMEDCT ID:2298005 | Focal dermal hypoplasia syndrome +BMGC_DS13754,BMG_DS053234,"UMLS ID:C2936837 | MeSH ID:D053546 | palmoplantar keratoderma, epidermolytic, 2 | MONDO:0957303 | Keratoderma, Palmoplantar, Epidermolytic | OMIM ID:620411 | Keratosis of Greither" +BMGC_DS13755,BMG_DS053238,Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | MONDO:0008728 | MeSH ID:C535979 | OMIM ID:201910 | UMLS ID:C2936858 +BMGC_DS13756,BMG_DS053239,MeSH ID:C536108 | SNOMEDCT ID:723410002 | N syndrome | MONDO:0010686 | OMIM ID:310465 | N syndrome (disorder) | DOID:0050769 | UMLS ID:C2936859 +BMGC_DS13757,BMG_DS053240,"OMIM ID:608220 | UMLS ID:C2936860 | MeSH ID:C536861 | Spastic paraplegia 25, autosomal recessive | hereditary spastic paraplegia 25 | MONDO:0011992" +BMGC_DS13758,BMG_DS053241,OMIM ID:209900 | UMLS ID:C2936862 | MONDO:0008854 | DOID:0110123 | MeSH ID:C537909 | Bardet-Biedl syndrome 1 +BMGC_DS13759,BMG_DS053242,MONDO:0014432 | MeSH ID:C537910 | OMIM ID:615981 | DOID:0110124 | Bardet-Biedl syndrome 2 | UMLS ID:C2936863 +BMGC_DS13760,BMG_DS053243,OMIM ID:615982 | MeSH ID:C537912 | Bardet-Biedl syndrome 4 | UMLS ID:C2936864 | MONDO:0014433 | DOID:0110126 +BMGC_DS13761,BMG_DS053245,"UMLS ID:C2936879 | SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT | MONDO:0013132 | OMIM ID:613096 | hereditary spastic paraplegia 36" +BMGC_DS13762,BMG_DS053246,"OMIM ID:611945 | UMLS ID:C2936880 | MONDO:0012766 | MeSH ID:C567931 | hereditary spastic paraplegia 37 | Spastic Paraplegia 37, Autosomal Dominant" +BMGC_DS13763,BMG_DS053250,"UMLS ID:C2936904 | Opitz GBBB Syndrome, X-Linked | OMIM ID:300000 | MeSH ID:C567932 | X-linked Opitz G/BBB syndrome | MONDO:0010222" +BMGC_DS13764,BMG_DS053252,"oculocerebral hypopigmentation syndrome, Cross type | MeSH ID:C537866 | UMLS ID:C2936910 | ICD10 ID:E70.328 | SNOMEDCT ID:17827007 | MONDO:0009767 | Oculocerebral hypopigmentation syndrome Cross type | Kramer syndrome | Oculocerebral-hypopigmentation syndrome | Cross syndrome | Cross syndrome (disorder) | OMIM ID:257800" +BMGC_DS13765,BMG_DS053259,UC - Ulcerative colitis confined to rectum | Chronic ulcerative proctitis | IP - Idiopathic proctitis | UMLS ID:C2937222 | Idiopathic proctitis | Chronic ulcerative proctitis (disorder) | SNOMEDCT ID:52231000 | Ulcerative colitis confined to rectum +BMGC_DS13766,BMG_DS053262,MONDO:0020699 | SNOMEDCT ID:49607006 | UMLS ID:C2937225 | biotin metabolic disease | Biotin deficiency disease | Biotin deficiency disease (disorder) +BMGC_DS13767,BMG_DS053267,spinal cord glioma | DOID:3185 | UMLS ID:C2937245 | MONDO:0002542 +BMGC_DS13768,BMG_DS053273,"thyroid hormone resistance, generalized, autosomal dominant | THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT | MONDO:0008569 | UMLS ID:C2937288 | OMIM ID:188570 | OMIM ID:190160" +BMGC_DS13769,BMG_DS053274,UMLS ID:C2937300 | Congenital hereditary muscular dystrophy (disorder) | SNOMEDCT ID:111501005 | congenital muscular dystrophy | DOID:0050557 | SNOMEDCT ID:193221009 | Congenital hereditary muscular dystrophy +BMGC_DS13770,BMG_DS053275,UMLS ID:C2937358 | MONDO:0013792 | intracerebral hemorrhage +BMGC_DS13771,BMG_DS053276,Oral aphthae or aphthalike ulceration | MONDO:0005318 | Recurrent aphthous ulcer (disorder) | ICD10 ID:K12.0 | canker sore | Sutton's disease | Recurrent aphthous stomatitis | SNOMEDCT ID:398870000 | Recurrent aphthous ulceration | ICD11 ID:DA01.10 | Recurrent aphthous ulcer | UMLS ID:C2937365 | Recurring scarring aphthae | RAS - Recurrent aphthous stomatitis | SNOMEDCT ID:80244009 | Aphthae major | Mikulicz's aphthae | Periadenitis mucosa necrotica recurrens +BMGC_DS13772,BMG_DS053293,SNOMEDCT ID:157154006 | Cystic fibrosis with meconium ileus (disorder) | SNOMEDCT ID:86092005 | meconium ileus | MONDO:0054868 | SNOMEDCT ID:206523001 | Meconium ileus | Meconium obstruction | Meconium obstruction of intestine in mucoviscidosis | Cystic fibrosis with meconium ileus | Meconium ileus in cystic fibrosis | Meconium ileus of the newborn | Meconium ileus (disorder) | UMLS ID:C2939175 +BMGC_DS13773,BMG_DS053310,MONDO:0005170 | myeloid neoplasm | UMLS ID:C2939461 +BMGC_DS13774,BMG_DS053311,G6PD - glucose-6-phosphate dehydrogenase deficiency | DOID:2862 | Deficiency of glucose-6-phosphate dehydrogenase (disorder) | UMLS ID:C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | Deficiency of G-6PD (glucose-6-phosphate dehydrogenase) | glucosephosphate dehydrogenase deficiency | MONDO:0005775 | G6PD deficiency | SNOMEDCT ID:124134002 +BMGC_DS13775,BMG_DS053315,MeSH ID:D018382 | thyroid hormone resistance syndrome | DOID:11633 | UMLS ID:C2940786 | Thyroid Hormone Resistance Syndrome | MONDO:0001328 +BMGC_DS13776,BMG_DS053327,limb ischemia | MONDO:0000491 | SNOMEDCT ID:21631000119105 | Limb ischemia (disorder) | Limb ischemia | UMLS ID:C2945695 | Limb ischaemia +BMGC_DS13777,BMG_DS053347,UMLS ID:C2959527 | SNOMEDCT ID:445780006 | Infection caused by carbapenem resistant Acinetobacter | Infection caused by carbapenem resistant Acinetobacter (disorder) +BMGC_DS13778,BMG_DS053390,Fungal septicemia | UMLS ID:C2960008 | SNOMEDCT ID:446903007 | Fungal septicaemia | Septicemia due to fungus | Septicemia due to fungus (disorder) | Septicaemia due to fungus +BMGC_DS13779,BMG_DS053397,Hemoglobin H constant spring thalassemia (disorder) | UMLS ID:C2960096 | SNOMEDCT ID:447117006 | Haemoglobin H constant spring thalassaemia | Hemoglobin H constant spring thalassemia +BMGC_DS13780,BMG_DS053408,MONDO:0009934 | alveolar capillary dysplasia with misalignment of pulmonary veins | UMLS ID:C2960310 | OMIM ID:265380 +BMGC_DS13781,BMG_DS053436,Capdepont teeth | Dentinogenesis imperfecta without osteogenesis imperfecta | dentinogenesis imperfecta type 2 | SNOMEDCT ID:234969005 | MONDO:0007441 | OMIM ID:125490 | Hereditary opalescent dentine | Dentinogenesis imperfecta - Shield's type II | Dentinogenesis imperfecta - Shield's type II (disorder) | UMLS ID:C2973527 +BMGC_DS13782,BMG_DS053439,SNOMEDCT ID:11399002 | Hypertensive pulmonary arterial disease | Pulmonary arterial hypertension | Pulmonary hypertensive arterial disease | MONDO:0015924 | Pulmonary hypertensive arterial disease (disorder) | UMLS ID:C2973725 | OMIM ID:MTHU037923 | pulmonary arterial hypertension +BMGC_DS13783,BMG_DS053440,MeSH ID:D011778 | UMLS ID:C2973787 | Coxiella burnetii Infection | Q Fever +BMGC_DS13784,BMG_DS053519,SNOMEDCT ID:276206000 | Superficial mycosis | Ringworm | Tinea | superficial mycosis | DOID:0050133 | Superficial mycosis (disorder) | MONDO:0024268 | UMLS ID:C2980104 | Dermatophytosis | Dermatophytosis (disorder) | SNOMEDCT ID:47382004 | Microsporic tinea +BMGC_DS13785,BMG_DS053524,"UMLS ID:C2981140 | Developmental glaucoma | SNOMEDCT ID:71111008 | Juvenile glaucoma | MONDO:0020367 | Glaucoma of childhood | juvenile open angle glaucoma | ICD10 ID:Q15.0 | Glaucoma of childhood (disorder) | Developmental glaucoma, unspecified | ICD11 ID:9C61.4Z | Infantile glaucoma | SNOMEDCT ID:193541000" +BMGC_DS13786,BMG_DS053526,MONDO:0016064 | UMLS ID:C2981150 | cleft palate +BMGC_DS13787,BMG_DS053531,papillary tumor of the pineal region | UMLS ID:C2985219 | MONDO:0016724 +BMGC_DS13788,BMG_DS053532,MONDO:0000408 | MeSH ID:D063647 | Fetal Alcohol Spectrum Disorders | fetal alcohol spectrum disorder | UMLS ID:C2985290 +BMGC_DS13789,BMG_DS053533,familial rhabdoid tumor | Rhabdoid tumor predisposition syndrome (disorder) | Rhabdoid tumor predisposition syndrome | MONDO:0016473 | Rhabdoid tumour predisposition syndrome | UMLS ID:C2985524 | SNOMEDCT ID:772130002 | Familial rhabdoid tumor | Familial rhabdoid tumour | DOID:0070617 | rhabdoid tumor predisposition syndrome +BMGC_DS13790,BMG_DS053539,diffuse intrinsic pontine glioma | UMLS ID:C2986658 | MONDO:0006033 +BMGC_DS13791,BMG_DS053540,UMLS ID:C2986691 | MeSH ID:D000080984 | Congenital Bone Marrow Failure Syndromes +BMGC_DS13792,BMG_DS053541,UMLS ID:C2986703 | MONDO:0019716 | overgrowth syndrome +BMGC_DS13793,BMG_DS053551,alcohol-related birth defect | MONDO:0000395 | UMLS ID:C3146244 +BMGC_DS13794,BMG_DS053552,"OMIM ID:615535 | OMIM ID:615540 | DEAFNESS, AUTOSOMAL RECESSIVE 76 | autosomal recessive nonsyndromic hearing loss 76 | MONDO:0014237 | UMLS ID:C3147083" +BMGC_DS13795,BMG_DS053553,"OMIM ID:603324 | UMLS ID:C3148751 | DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY" +BMGC_DS13796,BMG_DS053554,"UMLS ID:C3148763 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E | OMIM ID:603511" +BMGC_DS13797,BMG_DS053555,"OMIM ID:607365 | DOID:0110704 | WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS | UMLS ID:C3148823 | hypotrichosis 7 | OMIM ID:604379" +BMGC_DS13798,BMG_DS053556,DOID:0110704 | UMLS ID:C3148824 | hypotrichosis 7 | WH/HT | OMIM ID:604379 +BMGC_DS13799,BMG_DS053557,"DOID:0060201 | OMIM ID:612069 | FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | amyotrophic lateral sclerosis type 10 | UMLS ID:C3148872 | OMIM ID:605078" +BMGC_DS13800,BMG_DS053558,"UMLS ID:C3148929 | OMIM ID:612971 | OMIM ID:602851 | USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC" +BMGC_DS13801,BMG_DS053560,"OMIM ID:606346 | DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY | UMLS ID:C3149009" +BMGC_DS13802,BMG_DS053561,"UMLS ID:C3149074 | MONDO:0007365 | OMIM ID:121200 | seizures, benign familial neonatal, 1 | OMIM ID:602235 | SEIZURES, BENIGN FAMILIAL NEONATAL, 1" +BMGC_DS13803,BMG_DS053562,"OMIM ID:602235 | OMIM ID:121200 | UMLS ID:C3149075 | SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA" +BMGC_DS13804,BMG_DS053563,"OMIM ID:138140 | OMIM ID:606777 | GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE | UMLS ID:C3149117" +BMGC_DS13805,BMG_DS053564,"UMLS ID:C3149124 | PARASOMNIA, SLEEPTALKING TYPE | OMIM ID:606840" +BMGC_DS13806,BMG_DS053567,"UMLS ID:C3149276 | chromosome 16p12.1 deletion syndrome, 520kb | MONDO:0007631 | chromosome 16p12.1 deletion syndrome | CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB | DOID:0060399 | OMIM ID:136570" +BMGC_DS13807,BMG_DS053568,"DOID:0081144 | OMIM ID:604558 | MONDO:0011864 | UMLS ID:C3149378 | IMMUNODEFICIENCY, COMMON VARIABLE, 1 | common variable immunodeficiency 1 | immunodeficiency, common variable, 1 | OMIM ID:607594" +BMGC_DS13808,BMG_DS053569,"OMIM ID:607844 | OMIM ID:166700 | DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED | UMLS ID:C3149399" +BMGC_DS13809,BMG_DS053570,HYPERALPHALIPOPROTEINEMIA 1 | OMIM ID:143470 | OMIM ID:118470 | UMLS ID:C3149462 +BMGC_DS13810,BMG_DS053571,keloid formation | UMLS ID:C3149494 | MONDO:0007847 | OMIM ID:148100 +BMGC_DS13811,BMG_DS053572,"OMIM ID:608390 | MONDO:0800339 | laryngospasm, severe neonatal episodic | LARYNGOSPASM, SEVERE NEONATAL EPISODIC | UMLS ID:C3149517" +BMGC_DS13812,BMG_DS053574,"DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT | OMIM ID:606351 | OMIM ID:609006 | UMLS ID:C3149566" +BMGC_DS13813,BMG_DS053575,"MONDO:0007970 | MELORHEOSTOSIS, ISOLATED | OMIM ID:155950 | melorheostosis | UMLS ID:C3149631" +BMGC_DS13814,BMG_DS053577,UMLS ID:C3149695 | Melorheostosis with Osteopoikilosis | MONDO:0015995 | melorheostosis with osteopoikilosis | MeSH ID:C563593 +BMGC_DS13815,BMG_DS053579,"OMIM ID:609560 | MONDO:0012301 | UMLS ID:C3149750 | MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) | OMIM ID:188250 | mitochondrial DNA depletion syndrome, myopathic form" +BMGC_DS13816,BMG_DS053580,CHROMOSOME 7q11.23 TRIPLICATION SYNDROME | 7q11.23 duplication syndrome | OMIM ID:609757 | UMLS ID:C3149767 | DOID:0080926 +BMGC_DS13817,BMG_DS053582,polycystic kidney disease 1 | OMIM ID:173900 | POLYCYSTIC KIDNEY DISEASE 1 | OMIM ID:601313 | UMLS ID:C3149841 | MONDO:0008263 +BMGC_DS13818,BMG_DS053583,"MONDO:0800224 | UMLS ID:C3149907 | amyotrophic lateral sclerosis, susceptibility to, 13" +BMGC_DS13819,BMG_DS053585,"palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | MONDO:0012530 | OMIM ID:610644 | UMLS ID:C3149931 | PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL" +BMGC_DS13820,BMG_DS053586,Antley-Bixler syndrome with disordered steroidogenesis | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | OMIM ID:201750 | MONDO:0008726 | UMLS ID:C3150099 | DOID:0050462 | ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | OMIM ID:124015 +BMGC_DS13821,BMG_DS053587,OMIM ID:613580 | BARDET-BIEDL SYNDROME 15 | UMLS ID:C3150127 | MONDO:0014443 | OMIM ID:615992 | Bardet-Biedl syndrome 15 +BMGC_DS13822,BMG_DS053588,"OMIM ID:611913 | DOID:0070515 | UMLS ID:C3150154 | CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB | MONDO:0012756 | chromosome 16p11.2 deletion syndrome, 593-kb | proximal 16p11.2 microdeletion syndrome" +BMGC_DS13823,BMG_DS053589,"UMLS ID:C3150156 | lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome | IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS | OMIM ID:611926 | MONDO:0012757" +BMGC_DS13824,BMG_DS053590,"DOID:0060201 | OMIM ID:612069 | amyotrophic lateral sclerosis type 10 | FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED | UMLS ID:C3150169" +BMGC_DS13825,BMG_DS053591,"UMLS ID:C3150171 | DOID:0060201 | FTLD-TDP, TARDBP-RELATED | OMIM ID:612069 | amyotrophic lateral sclerosis type 10" +BMGC_DS13826,BMG_DS053592,OMIM ID:604712 | OMIM ID:612075 | UMLS ID:C3150172 | MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) +BMGC_DS13827,BMG_DS053593,"agammaglobulinemia 6 | agammaglobulinemia 6, autosomal recessive | UMLS ID:C3150207 | AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE | MONDO:0012987 | DOID:0081138 | OMIM ID:612692" +BMGC_DS13828,BMG_DS053594,retinitis pigmentosa 53 | UMLS ID:C3150208 | MONDO:0800348 | RETINITIS PIGMENTOSA 53 | OMIM ID:612712 | OMIM ID:608830 +BMGC_DS13829,BMG_DS053595,DOID:0060424 | chromosome 6q24-q25 deletion syndrome | UMLS ID:C3150215 | MONDO:0013025 | OMIM ID:612863 | CHROMOSOME 6q24-q25 DELETION SYNDROME +BMGC_DS13830,BMG_DS053596,complement component C1r/C1s deficiency | MONDO:0009005 | COMPLEMENT COMPONENT C1r/C1s DEFICIENCY | OMIM ID:216950 | UMLS ID:C3150274 +BMGC_DS13831,BMG_DS053597,complement component 2 deficiency | MONDO:0009006 | OMIM ID:217000 | COMPLEMENT COMPONENT 2 DEFICIENCY | UMLS ID:C3150275 +BMGC_DS13832,BMG_DS053598,"UMLS ID:C3150315 | OMIM ID:225750 | AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT | OMIM ID:606609" +BMGC_DS13833,BMG_DS053599,"congenital nonspherocytic hemolytic anemia 5 | OMIM ID:235700 | MONDO:0009340 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY | DOID:0051006 | UMLS ID:C3150343 | OMIM ID:142600 | non-spherocytic hemolytic anemia due to hexokinase deficiency" +BMGC_DS13834,BMG_DS053600,"OMIM ID:613381 | UMLS ID:C3150344 | OMIM ID:236200 | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED" +BMGC_DS13835,BMG_DS053602,"UMLS ID:C3150354 | IMMUNODEFICIENCY, COMMON VARIABLE, 2 | DOID:0081145 | immunodeficiency, common variable, 2 | OMIM ID:604907 | OMIM ID:240500 | MONDO:0009413 | common variable immunodeficiency 2" +BMGC_DS13836,BMG_DS053604,"DOID:0111240 | OMIM ID:607439 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | congenital muscular dystrophy-dystroglycanopathy type A2 | MONDO:0013154 | UMLS ID:C3150411 | OMIM ID:613150 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2" +BMGC_DS13837,BMG_DS053605,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3 | muscular dystrophy-dystroglycanopathy type B3 | OMIM ID:613151 | OMIM ID:606822 | UMLS ID:C3150412 | DOID:0112378 | muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | MONDO:0013155" +BMGC_DS13838,BMG_DS053606,"OMIM ID:606596 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | DOID:0111241 | OMIM ID:613153 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | UMLS ID:C3150413 | MONDO:0013157 | congenital muscular dystrophy-dystroglycanopathy type A5" +BMGC_DS13839,BMG_DS053607,"OMIM ID:613154 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | UMLS ID:C3150414 | MONDO:0013158" +BMGC_DS13840,BMG_DS053608,"OMIM ID:613156 | OMIM ID:607439 | DOID:0112380 | muscular dystrophy-dystroglycanopathy type B2 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 | muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | MONDO:0013160 | UMLS ID:C3150416" +BMGC_DS13841,BMG_DS053609,"MONDO:0013161 | UMLS ID:C3150417 | autosomal recessive limb-girdle muscular dystrophy type 2O | OMIM ID:606822 | OMIM ID:613157 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3" +BMGC_DS13842,BMG_DS053610,"OMIM ID:607439 | MONDO:0013162 | UMLS ID:C3150418 | OMIM ID:613158 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 | autosomal recessive limb-girdle muscular dystrophy type 2N" +BMGC_DS13843,BMG_DS053611,NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 | OMIM ID:613553 | nephronophthisis-like nephropathy 1 | UMLS ID:C3150419 | OMIM ID:613159 | DOID:0111117 | MONDO:0013163 +BMGC_DS13844,BMG_DS053614,"epilepsy, hot water, 2 | UMLS ID:C3150536 | EPILEPSY, HOT WATER, 2 | hot water epilepsy 2 | DOID:0081107 | OMIM ID:613340 | MONDO:0013230" +BMGC_DS13845,BMG_DS053616,"MONDO:0013235 | UMLS ID:C3150546 | pancreatic cancer, susceptibility to, 2 | OMIM ID:613347" +BMGC_DS13846,BMG_DS053617,"UMLS ID:C3150547 | pancreatic cancer, susceptibility to, 3 | MONDO:0013236 | OMIM ID:613348" +BMGC_DS13847,BMG_DS053618,"OMIM ID:613353 | susceptibility to mononeuropathy of the median nerve, mild | MONDO:0013237 | UMLS ID:C3150596 | OMIM ID:608206 | MONONEUROPATHY OF THE MEDIAN NERVE, MILD" +BMGC_DS13848,BMG_DS053619,chromosome 17q23.1-q23.2 deletion syndrome | OMIM ID:613355 | CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME | UMLS ID:C3150607 | MONDO:0013238 +BMGC_DS13849,BMG_DS053620,"OMIM ID:613370 | MONDO:0013240 | UMLS ID:C3150617 | SNOMEDCT ID:609577006 | Maturity-onset diabetes of the young, type 10 | MODY10 (maturity-onset diabetes of the young type 10) | maturity-onset diabetes of the young type 10 | Maturity-onset diabetes of the young, type 10 (disorder)" +BMGC_DS13850,BMG_DS053621,"MODY11 (maturity-onset diabetes of the young type 11) | MONDO:0013242 | maturity-onset diabetes of the young type 11 | SNOMEDCT ID:609578001 | Maturity-onset diabetes of the young, type 11 | OMIM ID:613375 | UMLS ID:C3150618 | Maturity-onset diabetes of the young, type 11 (disorder)" +BMGC_DS13851,BMG_DS053622,"MONDO:0013243 | autosomal dominant distal hereditary motor neuronopathy 4 | OMIM ID:604624 | OMIM ID:613376 | UMLS ID:C3150619 | neuronopathy, distal hereditary motor, type 2C | DOID:0111209 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4" +BMGC_DS13852,BMG_DS053623,"OMIM ID:168470 | DOID:0110976 | MONDO:0013244 | BRACHYDACTYLY, TYPE E2 | brachydactyly type E2 | OMIM ID:613382 | UMLS ID:C3150644" +BMGC_DS13853,BMG_DS053624,"UMLS ID:C3150649 | MONDO:0013245 | OMIM ID:606409 | syndromic multisystem autoimmune disease due to ITCH deficiency | OMIM ID:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM" +BMGC_DS13854,BMG_DS053625,"fatty liver disease, nonalcoholic, susceptibility to, 2 | OMIM ID:613387 | UMLS ID:C3150651 | MONDO:0013246" +BMGC_DS13855,BMG_DS053626,FANCONI RENOTUBULAR SYNDROME 2 | OMIM ID:182309 | DOID:0080758 | OMIM ID:613388 | Fanconi renotubular syndrome 2 | MONDO:0013247 | UMLS ID:C3150652 +BMGC_DS13856,BMG_DS053627,"DOID:0111096 | FANCONI ANEMIA, COMPLEMENTATION GROUP O | OMIM ID:613390 | MONDO:0013248 | OMIM ID:602774 | UMLS ID:C3150653 | Fanconi anemia complementation group O" +BMGC_DS13857,BMG_DS053628,"DEAFNESS, AUTOSOMAL RECESSIVE 84A | MONDO:0013249 | UMLS ID:C3150654 | autosomal recessive nonsyndromic hearing loss 84A | OMIM ID:613391 | OMIM ID:603317" +BMGC_DS13858,BMG_DS053629,OMIM ID:613393 | Birbeck granule deficiency | OMIM ID:604862 | BIRBECK GRANULE DEFICIENCY | MONDO:0013251 | UMLS ID:C3150657 +BMGC_DS13859,BMG_DS053630,Warsaw breakage syndrome | OMIM ID:613398 | DOID:0060535 | WARSAW BREAKAGE SYNDROME | MONDO:0013252 | OMIM ID:601150 | UMLS ID:C3150658 +BMGC_DS13860,BMG_DS053631,"MONDO:0013253 | OMIM ID:613399 | UMLS ID:C3150659 | breast-ovarian cancer, familial, susceptibility to, 3" +BMGC_DS13861,BMG_DS053634,"UMLS ID:C3150667 | OMIM ID:605610 | OMIM ID:613402 | MONDO:0013254 | MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY | microcephaly, seizures, and developmental delay | DOID:0080457" +BMGC_DS13862,BMG_DS053635,"OMIM ID:613401 | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | MONDO:0013255 | DOID:0111354 | arthrogryposis, renal dysfunction, and cholestasis 2 | UMLS ID:C3150672 | OMIM ID:613404" +BMGC_DS13863,BMG_DS053636,UMLS ID:C3150674 | chromosome 15q24 deletion syndrome | CHROMOSOME 15q24 DELETION SYNDROME | MONDO:0013256 | OMIM ID:613406 +BMGC_DS13864,BMG_DS053637,UMLS ID:C3150675 | CHROMOSOME 15q24 DUPLICATION SYNDROME | OMIM ID:613406 +BMGC_DS13865,BMG_DS053639,"OMIM ID:613410 | MONDO:0013258 | UMLS ID:C3150677 | autism, susceptibility to, 16" +BMGC_DS13866,BMG_DS053640,MONDO:0013259 | Oguchi disease-2 | OMIM ID:180381 | UMLS ID:C3150678 | OMIM ID:613411 | OGUCHI DISEASE 2 | DOID:0110713 +BMGC_DS13867,BMG_DS053641,"OMIM ID:613412 | esophagitis, eosinophilic, 2 | MONDO:0013260 | ESOPHAGITIS, EOSINOPHILIC, 2 | UMLS ID:C3150679" +BMGC_DS13868,BMG_DS053642,"UMLS ID:C3150681 | OMIM ID:613424 | OMIM ID:102540 | CARDIOMYOPATHY, DILATED, 1R | dilated cardiomyopathy 1R | MONDO:0013261" +BMGC_DS13869,BMG_DS053643,OMIM ID:613424 | UMLS ID:C3150682 | left ventricular noncompaction 4 | MONDO:0800350 | OMIM ID:102540 | LEFT VENTRICULAR NONCOMPACTION 4 +BMGC_DS13870,BMG_DS053644,OMIM ID:613426 | MONDO:0800351 | UMLS ID:C3150690 | left ventricular noncompaction 5 | LEFT VENTRICULAR NONCOMPACTION 5 | OMIM ID:160760 +BMGC_DS13871,BMG_DS053645,MONDO:0013263 | RETINITIS PIGMENTOSA 54 | retinitis pigmentosa 54 | OMIM ID:613425 | UMLS ID:C3150691 | OMIM ID:613428 +BMGC_DS13872,BMG_DS053646,OMIM ID:613435 | amyotrophic lateral sclerosis type 12 | OMIM ID:602432 | UMLS ID:C3150692 | AMYOTROPHIC LATERAL SCLEROSIS 12 | MONDO:0013264 +BMGC_DS13873,BMG_DS053647,"UMLS ID:C3150693 | MONDO:0013265 | autism, susceptibility to, 17 | OMIM ID:613436" +BMGC_DS13874,BMG_DS053648,"intellectual disability, autosomal dominant 20 | UMLS ID:C3150700 | neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | DOID:0070050 | OMIM ID:613443 | OMIM ID:600662 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE | MONDO:0013266" +BMGC_DS13875,BMG_DS053649,"OMIM ID:613444 | MONDO:0013267 | distal 16p11.2 microdeletion syndrome | chromosome 16p11.2 deletion syndrome, 220-kb | UMLS ID:C3150701 | DOID:0060398 | CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB" +BMGC_DS13876,BMG_DS053650,frontonasal dysplasia 2 | OMIM ID:613451 | MONDO:0013268 | frontonasal dysplasia with alopecia and genital anomaly | FRONTONASAL DYSPLASIA 2 | OMIM ID:605420 | UMLS ID:C3150703 | DOID:0081046 +BMGC_DS13877,BMG_DS053651,"OMIM ID:173321 | MONDO:0013269 | autosomal recessive nonsyndromic hearing loss 91 | OMIM ID:613453 | UMLS ID:C3150704 | DEAFNESS, AUTOSOMAL RECESSIVE 91" +BMGC_DS13878,BMG_DS053652,"FOXG1 syndrome | Rett syndrome, congenital variant | UMLS ID:C3150705 | MONDO:0013270 | SNOMEDCT ID:702450004 | FOXG1 syndrome (disorder) | OMIM ID:613454" +BMGC_DS13879,BMG_DS053653,FRONTONASAL DYSPLASIA 3 | DOID:0081047 | OMIM ID:601527 | frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | MONDO:0013271 | frontonasal dysplasia 3 | OMIM ID:613456 | UMLS ID:C3150706 +BMGC_DS13880,BMG_DS053654,UMLS ID:C3150707 | chromosome 14q11-q22 deletion syndrome | OMIM ID:613457 | MONDO:0013272 | DOID:0060392 | CHROMOSOME 14q11-q22 DELETION SYNDROME +BMGC_DS13881,BMG_DS053655,chromosome 16p13.3 duplication syndrome | MONDO:0013273 | CHROMOSOME 16p13.3 DUPLICATION SYNDROME | OMIM ID:613458 | UMLS ID:C3150708 +BMGC_DS13882,BMG_DS053656,MONDO:0013274 | OMIM ID:608132 | retinitis pigmentosa 51 | OMIM ID:613464 | UMLS ID:C3150715 | RETINITIS PIGMENTOSA 51 +BMGC_DS13883,BMG_DS053657,"congenital nonspherocytic hemolytic anemia 4 | hemolytic anemia due to glucophosphate isomerase deficiency | UMLS ID:C3150730 | OMIM ID:613470 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY | MONDO:0013275 | DOID:0051005 | OMIM ID:172400" +BMGC_DS13884,BMG_DS053658,"OMIM ID:613477 | developmental and epileptic encephalopathy 5 | DOID:0080438 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 | UMLS ID:C3150731 | MONDO:0013277 | developmental and epileptic encephalopathy, 5 | OMIM ID:182810" +BMGC_DS13885,BMG_DS053659,long QT syndrome 13 | OMIM ID:600734 | OMIM ID:613485 | UMLS ID:C3150733 | MONDO:0013279 | LONG QT SYNDROME 13 +BMGC_DS13886,BMG_DS053660,"Antibody Deficiency due to Defect in CD19 | MONDO:0013283 | MeSH ID:C566275 | immunodeficiency, common variable, 3 | OMIM ID:613493 | UMLS ID:C3150738" +BMGC_DS13887,BMG_DS053661,"MONDO:0013284 | immunodeficiency, common variable, 4 | DOID:0081147 | OMIM ID:606269 | UMLS ID:C3150739 | IMMUNODEFICIENCY, COMMON VARIABLE, 4 | common variable immunodeficiency 4 | OMIM ID:613494" +BMGC_DS13888,BMG_DS053662,"DOID:0081148 | OMIM ID:613495 | UMLS ID:C3150740 | OMIM ID:112210 | common variable immunodeficiency 5 | IMMUNODEFICIENCY, COMMON VARIABLE, 5 | immunodeficiency, common variable, 5 | MONDO:0013285" +BMGC_DS13889,BMG_DS053663,"OMIM ID:613496 | common variable immunodeficiency 6 | immunodeficiency, common variable, 6 | DOID:0081149 | UMLS ID:C3150741 | MONDO:0013286 | IMMUNODEFICIENCY, COMMON VARIABLE, 6 | OMIM ID:186845" +BMGC_DS13890,BMG_DS053664,"UMLS ID:C3150750 | MONDO:0013287 | agammaglobulinemia 2 | AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE | agammaglobulinemia 2, autosomal recessive | OMIM ID:613500 | DOID:0081135 | OMIM ID:146770" +BMGC_DS13891,BMG_DS053665,"AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE | MONDO:0013288 | UMLS ID:C3150751 | OMIM ID:613501 | agammaglobulinemia 3 | DOID:0081137 | agammaglobulinemia 3, autosomal recessive" +BMGC_DS13892,BMG_DS053666,"agammaglobulinemia 4, autosomal recessive | MONDO:0013289 | AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE | UMLS ID:C3150752 | OMIM ID:604515 | DOID:0060027 | OMIM ID:613502 | agammaglobulinemia 4" +BMGC_DS13893,BMG_DS053667,"DOID:0080588 | MONDO:0013290 | UMLS ID:C3150753 | AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT | agammaglobulinemia 5 | agammaglobulinemia 5, autosomal dominant | OMIM ID:613506" +BMGC_DS13894,BMG_DS053668,OMIM ID:613507 | glycogen storage disease XV | UMLS ID:C3150754 | OMIM ID:603942 | MONDO:0013291 | DOID:0050579 | GLYCOGEN STORAGE DISEASE XV +BMGC_DS13895,BMG_DS053669,chromosome 4q21 deletion syndrome | OMIM ID:613509 | DOID:0060420 | MONDO:0013292 | UMLS ID:C3150756 | CHROMOSOME 4q21 DELETION SYNDROME +BMGC_DS13896,BMG_DS053670,"isolated microphthalmia 6 | OMIM ID:613858 | MONDO:0013293 | UMLS ID:C3150757 | OMIM ID:613517 | MICROPHTHALMIA, ISOLATED 6" +BMGC_DS13897,BMG_DS053672,"OMIM ID:613518 | MONDO:0013294 | UMLS ID:C3150763 | dermatitis, atopic, 8 | DERMATITIS, ATOPIC, 8 | atopic dermatitis 8 | DOID:0110104" +BMGC_DS13898,BMG_DS053673,"DERMATITIS, ATOPIC, 9 | DOID:0110105 | MONDO:0013295 | atopic dermatitis 9 | OMIM ID:613519 | UMLS ID:C3150764 | dermatitis, atopic, 9" +BMGC_DS13899,BMG_DS053674,MONDO:0013296 | myeloid neoplasm associated with FGFR1 rearrangement | OMIM ID:613523 | UMLS ID:C3150773 +BMGC_DS13900,BMG_DS053675,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H | autosomal dominant limb-girdle muscular dystrophy type 1H | MONDO:0013297 | OMIM ID:613530 | UMLS ID:C3150786" +BMGC_DS13901,BMG_DS053676,UMLS ID:C3150790 | DOID:0060423 | CHROMOSOME 6q11-q14 DELETION SYNDROME | MONDO:0013299 | chromosome 6q11-q14 deletion syndrome | OMIM ID:613544 +BMGC_DS13902,BMG_DS053677,DOID:0060423 | chromosome 6q11-q14 deletion syndrome | UMLS ID:C3150791 | CHROMOSOME 6q13-q14 DELETION SYNDROME | OMIM ID:613544 +BMGC_DS13903,BMG_DS053679,NEPHRONOPHTHISIS 11 | OMIM ID:609884 | UMLS ID:C3150796 | nephronophthisis 11 | DOID:0111118 | OMIM ID:613550 | MONDO:0013302 +BMGC_DS13904,BMG_DS053680,"autoimmune disease, susceptibility to, 6 | OMIM ID:613551 | MONDO:0013303 | UMLS ID:C3150797" +BMGC_DS13905,BMG_DS053681,OMIM ID:613541 | OMIM ID:613559 | UMLS ID:C3150801 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 | DOID:0111487 | MONDO:0013306 | combined oxidative phosphorylation defect type 7 | combined oxidative phosphorylation deficiency 7 +BMGC_DS13906,BMG_DS053682,"DOID:0111186 | OMIM ID:613561 | MONDO:0013307 | MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 | OMIM ID:610957 | myopathy, lactic acidosis, and sideroblastic anemia 2 | UMLS ID:C3150802" +BMGC_DS13907,BMG_DS053683,CBL-related disorder | MONDO:0013308 | UMLS ID:C3150803 | OMIM ID:613563 +BMGC_DS13908,BMG_DS053684,CHROMOSOME 2p12-p11.2 DELETION SYNDROME | DOID:0060414 | chromosome 2p12-p11.2 deletion syndrome | UMLS ID:C3150804 | MONDO:0013309 | OMIM ID:613564 +BMGC_DS13909,BMG_DS053685,UMLS ID:C3150807 | MONDO:0024565 | ectodermal dysplasia-syndactyly syndrome 1 | OMIM ID:609607 | OMIM ID:613573 | ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 +BMGC_DS13910,BMG_DS053686,MONDO:0013312 | OMIM ID:613575 | RETINITIS PIGMENTOSA 55 | OMIM ID:608845 | UMLS ID:C3150808 | retinitis pigmentosa 55 +BMGC_DS13911,BMG_DS053687,UMLS ID:C3150809 | ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 | ectodermal dysplasia-cutaneous syndactyly syndrome | OMIM ID:613576 | MONDO:0013313 +BMGC_DS13912,BMG_DS053688,RETINITIS PIGMENTOSA 56 | OMIM ID:607056 | UMLS ID:C3150819 | OMIM ID:613581 | MONDO:0013314 | retinitis pigmentosa 56 +BMGC_DS13913,BMG_DS053689,OMIM ID:613582 | retinitis pigmentosa 57 | RETINITIS PIGMENTOSA 57 | MONDO:0013315 | OMIM ID:180073 | UMLS ID:C3150821 +BMGC_DS13914,BMG_DS053690,UMLS ID:C3150833 | occult macular dystrophy | MONDO:0013316 | OCCULT MACULAR DYSTROPHY | DOID:0050578 | OMIM ID:613587 | OMIM ID:608581 +BMGC_DS13915,BMG_DS053692,MONDO:0013318 | OMIM ID:613601 | early repolarization associated with ventricular fibrillation | UMLS ID:C3150852 +BMGC_DS13916,BMG_DS053693,CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | chromosome 4Q32.1-q32.2 triplication syndrome | MONDO:0013319 | OMIM ID:613603 | UMLS ID:C3150857 +BMGC_DS13917,BMG_DS053694,"CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB | OMIM ID:613604 | chromosome 16p12.2-p11.2 deletion syndrome | UMLS ID:C3150858 | MONDO:0013320" +BMGC_DS13918,BMG_DS053695,FORSYTHE-WAKELING SYNDROME | forsythe-wakeling syndrome | OMIM ID:613606 | UMLS ID:C3150859 | MONDO:0013321 +BMGC_DS13919,BMG_DS053696,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 | OMIM ID:613297 | OMIM ID:613608 | epilepsy, familial adult myoclonic, 3 | MONDO:0013322 | familial adult myoclonic epilepsy 3 | DOID:0111695 | UMLS ID:C3150860" +BMGC_DS13920,BMG_DS053697,CRANIOECTODERMAL DYSPLASIA 2 | OMIM ID:613602 | OMIM ID:613610 | DOID:0080804 | cranioectodermal dysplasia 2 | UMLS ID:C3150874 | MONDO:0013323 +BMGC_DS13921,BMG_DS053698,"lymphedema-posterior choanal atresia syndrome | UMLS ID:C3150875 | Lymphedema, posterior choanal atresia syndrome | Lymphoedema, posterior choanal atresia syndrome | OMIM ID:613611 | MONDO:0013324 | SNOMEDCT ID:1204421005 | Lymphedema, posterior choanal atresia syndrome (disorder)" +BMGC_DS13922,BMG_DS053699,MONDO:0013325 | COG5 congenital disorder of glycosylation | Component of oligomeric golgi complex 5 congenital disorder of glycosylation | COG5-congenital disorder of glycosylation | Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) | SNOMEDCT ID:721100009 | Congenital disorder of glycosylation type IIi | COG5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation | Carbohydrate deficient glycoprotein syndrome type IIi | OMIM ID:613612 | UMLS ID:C3150876 | CDG2I - carbohydrate deficient glycoprotein syndrome type IIi +BMGC_DS13923,BMG_DS053700,UMLS ID:C3150877 | OMIM ID:613615 | OMIM ID:613524 | MONDO:0013326 | Senior-Loken syndrome 7 | SENIOR-LOKEN SYNDROME 7 +BMGC_DS13924,BMG_DS053701,DOID:0111672 | primary hyperoxaluria type 3 | OMIM ID:613616 | SNOMEDCT ID:734990008 | UMLS ID:C3150878 | Primary hyperoxaluria type III (disorder) | Primary hyperoxaluria type III | Primary hyperoxaluria type 3 | MONDO:0013327 +BMGC_DS13925,BMG_DS053702,OMIM ID:613598 | RETINITIS PIGMENTOSA 58 | UMLS ID:C3150879 | OMIM ID:613617 | MONDO:0013328 | retinitis pigmentosa 58 +BMGC_DS13926,BMG_DS053703,UMLS ID:C3150880 | CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME | familial clubfoot due to 17q23.1q23.2 microduplication | OMIM ID:613618 | MONDO:0013329 +BMGC_DS13927,BMG_DS053705,"OMIM ID:613625 | MONDO:0013331 | factor 5 and Factor VIII, combined deficiency of, 2 | FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 | UMLS ID:C3150889 | OMIM ID:607788" +BMGC_DS13928,BMG_DS053707,Fetal encasement syndrome | cocoon syndrome | Foetal encasement syndrome | Cocoon syndrome | Fetal encasement syndrome (disorder) | MONDO:0013334 | UMLS ID:C3150891 | OMIM ID:613630 | SNOMEDCT ID:1220575002 +BMGC_DS13929,BMG_DS053709,MONDO:0013336 | SNOMEDCT ID:764440006 | 19p13.13 microdeletion syndrome | OMIM ID:613638 | 19p13.13 microdeletion syndrome (disorder) | chromosome 19p13.13 deletion syndrome | Chromosome 19p13.13 deletion syndrome | UMLS ID:C3150894 | Monosomy 19p13.13 +BMGC_DS13930,BMG_DS053710,DOID:0060426 | OMIM ID:613638 | chromosome 19p13.13 deletion syndrome | UMLS ID:C3150895 | CHROMOSOME 19p13.13 DUPLICATION SYNDROME +BMGC_DS13931,BMG_DS053711,"Hereditary sensory autonomic neuropathy type IC | UMLS ID:C3150896 | OMIM ID:613640 | SNOMEDCT ID:860814001 | neuropathy, hereditary sensory and autonomic, type 1C | MONDO:0013337 | Hereditary sensory autonomic neuropathy type IC (disorder)" +BMGC_DS13932,BMG_DS053712,"OMIM ID:601421 | OMIM ID:613641 | MONDO:0013338 | Charcot-Marie-Tooth disease recessive intermediate B | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B | UMLS ID:C3150897" +BMGC_DS13933,BMG_DS053713,"MONDO:0013339 | CARDIOMYOPATHY, DILATED, 1GG | dilated cardiomyopathy 1GG | OMIM ID:600857 | UMLS ID:C3150898 | OMIM ID:613642" +BMGC_DS13934,BMG_DS053714,"OMIM ID:613643 | MONDO:0013340 | UMLS ID:C3150899 | Parkinson disease 5, autosomal dominant, susceptibility to" +BMGC_DS13935,BMG_DS053715,"UMLS ID:C3150901 | SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE | MONDO:0013342 | OMIM ID:613653 | hereditary spastic paraplegia 48 | OMIM ID:613647" +BMGC_DS13936,BMG_DS053716,OMIM ID:613652 | UMLS ID:C3150902 | C1q DEFICIENCY 1 | C1Q deficiency | OMIM ID:120550 | MONDO:0013343 +BMGC_DS13937,BMG_DS053717,DOID:0111352 | UMLS ID:C3150909 | OMIM ID:147650 | D-2-HYDROXYGLUTARIC ACIDURIA 2 | d-2-hydroxyglutaric aciduria 2 | D-2-hydroxyglutaric aciduria 2 | OMIM ID:613657 | MONDO:0013345 +BMGC_DS13938,BMG_DS053718,UMLS ID:C3150910 | Brain calcification Rajab type | Rajab interstitial lung disease with brain calcifications | MONDO:0100214 | Rajab syndrome | Brain calcification Rajab type (disorder) | SNOMEDCT ID:720576001 +BMGC_DS13939,BMG_DS053719,UMLS ID:C3150912 | MONDO:0013348 | OMIM ID:609502 | DOID:0111021 | OMIM ID:613660 | CONE-ROD DYSTROPHY 15 | cone-rod dystrophy 15 +BMGC_DS13940,BMG_DS053720,"ALG11-congenital disorder of glycosylation | OMIM ID:613666 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | DOID:0080567 | MONDO:0013349 | OMIM ID:613661 | congenital disorder of glycosylation Ip | UMLS ID:C3150913" +BMGC_DS13941,BMG_DS053721,OMIM ID:174763 | mitochondrial DNA depletion syndrome 4b | UMLS ID:C3150914 | MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | MONDO:0013350 | DOID:0080123 | OMIM ID:613662 +BMGC_DS13942,BMG_DS053722,"infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY | OMIM ID:603810 | MONDO:0013351 | OMIM ID:613668 | UMLS ID:C3150921 | DOID:0111262" +BMGC_DS13943,BMG_DS053723,"MONDO:0013353 | intellectual disability, anterior maxillary protrusion, and strabismus | MRAMS syndrome | MRAMS (mental retardation, anterior maxillary protrusion, strabismus) syndrome | Anterior maxillary protrusion, strabismus, intellectual disability syndrome | Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | UMLS ID:C3150924 | SNOMEDCT ID:1222706005 | OMIM ID:613671" +BMGC_DS13944,BMG_DS053724,"UMLS ID:C3150925 | OMIM ID:613669 | OMIM ID:613672 | spastic ataxia 4 | SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE | MONDO:0013354 | DOID:0050943" +BMGC_DS13945,BMG_DS053725,Congenital dyserythropoietic anaemia type 4 | DOID:0111400 | MONDO:0013355 | Congenital dyserythropoietic anaemia type IV | OMIM ID:613673 | congenital dyserythropoietic anemia type IVa | Congenital dyserythropoietic anemia type 4 | UMLS ID:C3150926 | Congenital dyserythropoietic anemia type IV (disorder) | SNOMEDCT ID:719453009 | Congenital dyserythropoietic anemia type IV | congenital dyserythropoietic anemia type 4 +BMGC_DS13946,BMG_DS053726,UMLS ID:C3150927 | OMIM ID:613674 | OMIM ID:610928 | VESICOURETERAL REFLUX 3 | vesicoureteral reflux 3 | MONDO:0013356 +BMGC_DS13947,BMG_DS053727,"MONDO:0013362 | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | BBIS - Beaulieu Boycott Innes syndrome | SNOMEDCT ID:773554009 | Beaulieu Boycott Innes syndrome | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder) | UMLS ID:C3150939 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | OMIM ID:613680" +BMGC_DS13948,BMG_DS053728,MONDO:0013363 | CHROMOSOME 2q31.1 DUPLICATION SYNDROME | DOID:0060458 | OMIM ID:613681 | UMLS ID:C3150940 | chromosome 2q31.1 duplication syndrome +BMGC_DS13949,BMG_DS053729,UMLS ID:C3150941 | OMIM ID:602700 | RUBINSTEIN-TAYBI SYNDROME 2 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | MONDO:0013364 | OMIM ID:613684 +BMGC_DS13950,BMG_DS053730,"MONDO:0013366 | SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE | spondylocostal dysostosis 4, autosomal recessive | OMIM ID:613686 | spondylocostal dysostosis 4 | UMLS ID:C3150942 | DOID:0112364" +BMGC_DS13951,BMG_DS053731,MONDO:0013367 | DOID:0110645 | UMLS ID:C3150943 | MeSH ID:C563614 | long QT syndrome 2 | OMIM ID:613688 | Long Qt Syndrome 2 +BMGC_DS13952,BMG_DS053732,mammary-digital-nail syndrome | MONDO:0013368 | OMIM ID:613689 | MAMMARY-DIGITAL-NAIL SYNDROME | UMLS ID:C3150946 +BMGC_DS13953,BMG_DS053733,MeSH ID:C566333 | Long Qt Syndrome 6 | DOID:0110648 | UMLS ID:C3150953 | OMIM ID:613693 | MONDO:0013370 | long QT syndrome 6 +BMGC_DS13954,BMG_DS053734,"dilated cardiomyopathy 1V | MONDO:0013373 | MeSH ID:C566856 | OMIM ID:613697 | Cardiomyopathy, Dilated, 1V | UMLS ID:C3150958" +BMGC_DS13955,BMG_DS053735,"UMLS ID:C3150967 | MONDO:0013375 | DOID:0080591 | OMIM ID:606522 | OMIM ID:613702 | KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT | Klippel-Feil syndrome 3 | Klippel-Feil syndrome 3, autosomal dominant" +BMGC_DS13956,BMG_DS053736,"OMIM ID:613703 | MONDO:0013376 | UMLS ID:C3150968 | microphthalmia, isolated, with coloboma 6" +BMGC_DS13957,BMG_DS053737,"OMIM ID:613704 | MONDO:0013377 | OMIM ID:606522 | UMLS ID:C3150969 | MICROPHTHALMIA, ISOLATED 7 | isolated microphthalmia 7" +BMGC_DS13958,BMG_DS053738,UMLS ID:C3150970 | OMIM ID:164757 | Noonan syndrome 7 | NOONAN SYNDROME 7 | OMIM ID:613706 | MONDO:0013379 +BMGC_DS13959,BMG_DS053739,UMLS ID:C3150971 | LEOPARD SYNDROME 3 | OMIM ID:164757 | MONDO:0013380 | LEOPARD syndrome 3 | DOID:0080550 | OMIM ID:613707 | Noonan syndrome with multiple lentigines 3 +BMGC_DS13960,BMG_DS053740,"neuropathy, hereditary sensory, type 1D | OMIM ID:613708 | MONDO:0013381 | DOID:0070156 | UMLS ID:C3150972 | OMIM ID:606439 | hereditary sensory neuropathy type 1D | NEUROPATHY, HEREDITARY SENSORY, TYPE ID" +BMGC_DS13961,BMG_DS053741,Progressive polyneuropathy with bilateral striatal necrosis | progressive demyelinating neuropathy with bilateral striatal necrosis | Progressive polyneuropathy with bilateral striatal necrosis (disorder) | OMIM ID:613710 | SNOMEDCT ID:771305006 | MONDO:0013382 | UMLS ID:C3150973 +BMGC_DS13962,BMG_DS053742,"OMIM ID:613711 | UMLS ID:C3150974 | MONDO:0013383 | Hirschsprung disease, susceptibility to, 3" +BMGC_DS13963,BMG_DS053743,"Hirschsprung disease, susceptibility to, 4 | MONDO:0013384 | UMLS ID:C3150975 | OMIM ID:613712" +BMGC_DS13964,BMG_DS053744,UMLS ID:C3150983 | OMIM ID:613715 | DOID:0080790 | TREACHER COLLINS SYNDROME 2 | OMIM ID:613717 | MONDO:0013385 | Treacher Collins syndrome 2 +BMGC_DS13965,BMG_DS053745,"developmental and epileptic encephalopathy 7 | DOID:0080462 | OMIM ID:613720 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | developmental and epileptic encephalopathy, 7 | MONDO:0013387 | UMLS ID:C3150986" +BMGC_DS13966,BMG_DS053746,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 | MONDO:0013388 | OMIM ID:613721 | DOID:0080421 | developmental and epileptic encephalopathy, 11 | UMLS ID:C3150987 | developmental and epileptic encephalopathy 11" +BMGC_DS13967,BMG_DS053747,"DOID:0080459 | UMLS ID:C3150988 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12 | MONDO:0013389 | OMIM ID:605716 | developmental and epileptic encephalopathy, 12 | OMIM ID:613722 | OMIM ID:607120 | developmental and epileptic encephalopathy 12" +BMGC_DS13968,BMG_DS053748,"OMIM ID:613723 | MONDO:0013390 | UMLS ID:C3150989 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q | autosomal recessive limb-girdle muscular dystrophy type 2Q" +BMGC_DS13969,BMG_DS053749,SNOMEDCT ID:1296861002 | Sterol carrier protein-2 deficiency | UMLS ID:C3150990 | MONDO:0013391 | Deficiency of sterol carrier protein X | Deficiency of sterol carrier protein X (disorder) | SCPX (sterol carrier protein X) deficiency | Sterol carrier protein X deficiency | SCPx (sterol carrier protein x) deficiency | sterol carrier protein 2 deficiency | OMIM ID:613724 +BMGC_DS13970,BMG_DS053750,"UMLS ID:C3150998 | autosomal recessive spinocerebellar ataxia 10 | OMIM ID:613728 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 | MONDO:0013392 | DOID:0050999 | OMIM ID:613726" +BMGC_DS13971,BMG_DS053752,"porencephaly-microcephaly-bilateral congenital cataract syndrome | MONDO:0013394 | OMIM ID:613730 | UMLS ID:C3151000 | HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS | OMIM ID:606871" +BMGC_DS13972,BMG_DS053753,MeSH ID:C566706 | retinitis pigmentosa 4 | DOID:0110372 | UMLS ID:C3151001 | OMIM ID:613731 | Retinitis Pigmentosa 4 | MONDO:0013395 +BMGC_DS13973,BMG_DS053754,"OMIM ID:613736 | UMLS ID:C3151037 | OMIM ID:607632 | ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE | acne inversa, familial, 2 | MONDO:0013397" +BMGC_DS13974,BMG_DS053755,"OMIM ID:104311 | UMLS ID:C3151038 | OMIM ID:613737 | ACNE INVERSA, FAMILIAL, 3 | MONDO:0013398 | acne inversa, familial, 3" +BMGC_DS13975,BMG_DS053756,"UMLS ID:C3151039 | OMIM ID:613740 | Cardiomyopathy, Dilated, 1t | MONDO:0000911 | MeSH ID:C566052 | obsolete dilated cardiomyopathy 1T" +BMGC_DS13976,BMG_DS053757,"DOID:0050546 | congenital adrenal insufficiency | OMIM ID:118485 | OMIM ID:613743 | MONDO:0013400 | UMLS ID:C3151055 | Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE" +BMGC_DS13977,BMG_DS053758,"DOID:0110803 | OMIM ID:613744 | OMIM ID:607244 | UMLS ID:C3151056 | hereditary spastic paraplegia 51 | SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | MONDO:0013401" +BMGC_DS13978,BMG_DS053759,"HETEROTAXY, VISCERAL, 4, AUTOSOMAL | OMIM ID:613751 | UMLS ID:C3151057 | MONDO:0013403 | heterotaxy, visceral, 4, autosomal | OMIM ID:602730" +BMGC_DS13979,BMG_DS053760,Deficiency of S-adenosylhomocysteine hydrolase (disorder) | hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | S-adenosylhomocysteine hydrolase deficiency | SNOMEDCT ID:724040000 | OMIM ID:613752 | UMLS ID:C3151058 | MONDO:0013404 | Deficiency of S-adenosylhomocysteine hydrolase +BMGC_DS13980,BMG_DS053761,OMIM ID:613756 | RETINITIS PIGMENTOSA 49 | OMIM ID:123825 | MONDO:0013405 | retinitis pigmentosa 49 | UMLS ID:C3151059 +BMGC_DS13981,BMG_DS053762,"age related macular degeneration 6 | Macular Degeneration, Age-Related, 6 | UMLS ID:C3151060 | MeSH ID:C563674 | OMIM ID:613757 | MONDO:0013406" +BMGC_DS13982,BMG_DS053763,retinitis pigmentosa 47 | RETINITIS PIGMENTOSA 47 | MONDO:0013407 | OMIM ID:181031 | OMIM ID:613758 | UMLS ID:C3151061 +BMGC_DS13983,BMG_DS053764,"MONDO:0013408 | OMIM ID:613759 | IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY, FUNCTIONAL HYPOSPLENIA, AND HEPATIC DYSFUNCTION | FADD-related immunodeficiency | OMIM ID:602457 | UMLS ID:C3151062" +BMGC_DS13984,BMG_DS053765,"DOID:0110028 | UMLS ID:C3151063 | MACULAR DEGENERATION, AGE-RELATED, 5 | age related macular degeneration 5 | MONDO:0013409 | OMIM ID:613761" +BMGC_DS13985,BMG_DS053766,"OMIM ID:600982 | DOID:0111769 | MONDO:0013410 | OMIM ID:613762 | 46,XY sex reversal 6 | 46,XY SEX REVERSAL 6 | UMLS ID:C3151064" +BMGC_DS13986,BMG_DS053768,retinitis pigmentosa 45 | OMIM ID:600724 | OMIM ID:613767 | UMLS ID:C3151066 | MONDO:0013413 | RETINITIS PIGMENTOSA 45 +BMGC_DS13987,BMG_DS053769,retinitis pigmentosa 44 | OMIM ID:600342 | MONDO:0013414 | OMIM ID:613769 | RETINITIS PIGMENTOSA 44 | UMLS ID:C3151068 +BMGC_DS13988,BMG_DS053770,chromosome 17p13.1 deletion syndrome | MONDO:0013415 | CHROMOSOME 17p13.1 DELETION SYNDROME | UMLS ID:C3151069 | OMIM ID:613776 +BMGC_DS13989,BMG_DS053771,"DOID:0110020 | MONDO:0013416 | MACULAR DEGENERATION, AGE-RELATED, 8 | age related macular degeneration 8 | UMLS ID:C3151070 | OMIM ID:613778" +BMGC_DS13990,BMG_DS053772,"MONDO:0013417 | COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE | UMLS ID:C3151071 | complement component 3 deficiency | OMIM ID:613779" +BMGC_DS13991,BMG_DS053773,"AORTIC ANEURYSM, FAMILIAL THORACIC 7 | OMIM ID:600922 | aortic aneurysm, familial thoracic 7 | MONDO:0013418 | OMIM ID:613780 | UMLS ID:C3151077" +BMGC_DS13992,BMG_DS053774,Complement Component C1s Deficiency | UMLS ID:C3151078 | OMIM ID:613783 | MeSH ID:C565170 | MONDO:0013419 | complement component C1s deficiency +BMGC_DS13993,BMG_DS053775,"UMLS ID:C3151079 | MACULAR DEGENERATION, AGE-RELATED, 12 | age related macular degeneration 12 | MONDO:0013420 | DOID:0110024 | OMIM ID:613784" +BMGC_DS13994,BMG_DS053776,"UMLS ID:C3151080 | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II | MONDO:0013421 | type II complement component 8 deficiency | OMIM ID:613789" +BMGC_DS13995,BMG_DS053777,"UMLS ID:C3151081 | OMIM ID:613790 | type I complement component 8 deficiency | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I | MONDO:0013422" +BMGC_DS13996,BMG_DS053778,immunodeficiency due to MASP-2 deficiency | UMLS ID:C3151085 | MASP2 Deficiency | MONDO:0013423 | OMIM ID:613791 | MeSH ID:C565360 +BMGC_DS13997,BMG_DS053779,MeSH ID:C566718 | UMLS ID:C3151086 | DOID:0110353 | OMIM ID:613794 | MONDO:0013425 | Retinitis Pigmentosa 20 | retinitis pigmentosa 20 +BMGC_DS13998,BMG_DS053780,OMIM ID:603109 | LOEYS-DIETZ SYNDROME 3 | aneurysm-osteoarthritis syndrome | MONDO:0013426 | Loeys-Dietz syndrome 3 | DOID:0070237 | UMLS ID:C3151087 | OMIM ID:613795 +BMGC_DS13999,BMG_DS053781,IMMUNODEFICIENCY 31B | UMLS ID:C3151088 | OMIM ID:613796 | immunodeficiency 31B | DOID:0111944 | MONDO:0013427 | OMIM ID:600555 +BMGC_DS14000,BMG_DS053782,MEIER-GORLIN SYNDROME 2 | UMLS ID:C3151097 | DOID:0080513 | MONDO:0013428 | OMIM ID:603056 | OMIM ID:613800 | Meier-Gorlin syndrome 2 +BMGC_DS14001,BMG_DS053783,UMLS ID:C3151107 | MONDO:0013429 | OMIM ID:180072 | retinitis pigmentosa 40 | OMIM ID:613801 | RETINITIS PIGMENTOSA 40 +BMGC_DS14002,BMG_DS053784,MONDO:0013430 | UMLS ID:C3151113 | OMIM ID:613803 | Meier-Gorlin syndrome 3 | MEIER-GORLIN SYNDROME 3 | DOID:0080514 | OMIM ID:607213 +BMGC_DS14003,BMG_DS053785,UMLS ID:C3151120 | OMIM ID:613804 | MONDO:0013431 | Meier-Gorlin syndrome 4 | OMIM ID:605525 | MEIER-GORLIN SYNDROME 4 | DOID:0080515 +BMGC_DS14004,BMG_DS053786,Meier-Gorlin syndrome 5 | DOID:0080516 | OMIM ID:613805 | UMLS ID:C3151126 | MONDO:0013432 | OMIM ID:602627 | MEIER-GORLIN SYNDROME 5 +BMGC_DS14005,BMG_DS053787,"CILIARY DYSKINESIA, PRIMARY, 14 | primary ciliary dyskinesia 14 | MONDO:0013434 | OMIM ID:613807 | OMIM ID:613798 | UMLS ID:C3151136" +BMGC_DS14006,BMG_DS053788,"UMLS ID:C3151137 | CILIARY DYSKINESIA, PRIMARY, 15 | primary ciliary dyskinesia 15 | MONDO:0013435 | OMIM ID:613808 | OMIM ID:613799" +BMGC_DS14007,BMG_DS053789,MONDO:0013436 | RETINITIS PIGMENTOSA 39 | UMLS ID:C3151138 | OMIM ID:608400 | OMIM ID:613809 | retinitis pigmentosa 39 +BMGC_DS14008,BMG_DS053790,OMIM ID:180071 | retinitis pigmentosa 43 | MONDO:0013437 | RETINITIS PIGMENTOSA 43 | OMIM ID:613810 | UMLS ID:C3151139 +BMGC_DS14009,BMG_DS053791,"OMIM ID:613811 | pontocerebellar hypoplasia type 2D | PONTOCEREBELLAR HYPOPLASIA, TYPE 2D | MONDO:0013438 | UMLS ID:C3151140 | OMIM ID:613009" +BMGC_DS14010,BMG_DS053793,"MeSH ID:C566340 | Bile Acid Synthesis Defect, Congenital, 3 | DOID:0111070 | OMIM ID:613812 | UMLS ID:C3151147 | MONDO:0013439 | congenital bile acid synthesis defect 3" +BMGC_DS14011,BMG_DS053794,MONDO:0013441 | asphyxiating thoracic dystrophy 4 | UMLS ID:C3151185 | OMIM ID:613819 | SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY +BMGC_DS14012,BMG_DS053795,MONDO:0013442 | nephronophthisis 12 | OMIM ID:612014 | UMLS ID:C3151186 | DOID:0111119 | NEPHRONOPHTHISIS 12 | OMIM ID:613820 +BMGC_DS14013,BMG_DS053796,Seckel syndrome 5 | OMIM ID:613823 | DOID:0070012 | OMIM ID:613529 | UMLS ID:C3151187 | SECKEL SYNDROME 5 | MONDO:0013443 +BMGC_DS14014,BMG_DS053797,OMIM ID:613824 | NEPHRONOPHTHISIS 9 | OMIM ID:609799 | UMLS ID:C3151188 | nephronophthisis 9 | DOID:0111120 | MONDO:0013444 +BMGC_DS14015,BMG_DS053798,complement component 9 deficiency | MONDO:0013445 | MeSH ID:C565165 | UMLS ID:C3151189 | C9 Deficiency | OMIM ID:613825 +BMGC_DS14016,BMG_DS053799,RETINITIS PIGMENTOSA 48 | OMIM ID:613827 | UMLS ID:C3151190 | MONDO:0013447 | retinitis pigmentosa 48 | OMIM ID:602275 +BMGC_DS14017,BMG_DS053800,"generalized epilepsy with febrile seizures plus 8 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8 | DOID:0111299 | OMIM ID:613828 | MONDO:0013448 | generalized epilepsy with febrile seizures plus, type 8 | UMLS ID:C3151191" +BMGC_DS14018,BMG_DS053801,OMIM ID:602225 | Leber congenital amaurosis 7 | UMLS ID:C3151192 | LEBER CONGENITAL AMAUROSIS 7 | MONDO:0013449 | OMIM ID:613829 +BMGC_DS14019,BMG_DS053802,"MONDO:0013450 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D | OMIM ID:613830 | DOID:0110868 | UMLS ID:C3151193 | congenital stationary night blindness 1D | OMIM ID:603617" +BMGC_DS14020,BMG_DS053803,Multisystemic smooth muscle dysfunction syndrome (disorder) | OMIM ID:613834 | multisystemic smooth muscle dysfunction syndrome | SNOMEDCT ID:782724001 | MONDO:0013452 | UMLS ID:C3151201 | Multisystemic smooth muscle dysfunction syndrome +BMGC_DS14021,BMG_DS053804,OMIM ID:613835 | MONDO:0013453 | LEBER CONGENITAL AMAUROSIS 8 | OMIM ID:604210 | Leber congenital amaurosis 8 | UMLS ID:C3151202 +BMGC_DS14022,BMG_DS053805,"OMIM ID:605602 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 | OMIM ID:613838 | hypertrophic cardiomyopathy 16 | MONDO:0013455 | DOID:0110322 | UMLS ID:C3151204" +BMGC_DS14023,BMG_DS053806,OMIM ID:613839 | MeSH ID:C565095 | MONDO:0013456 | constitutional megaloblastic anemia with severe neurologic disease | Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency | UMLS ID:C3151205 +BMGC_DS14024,BMG_DS053807,Leber congenital amaurosis 15 | LEBER CONGENITAL AMAUROSIS 15 | OMIM ID:613843 | OMIM ID:602280 | MONDO:0013457 | UMLS ID:C3151206 +BMGC_DS14025,BMG_DS053808,"Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | HUPRA syndrome | MONDO:0013458 | SNOMEDCT ID:776416004 | hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | UMLS ID:C3151209 | Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome | OMIM ID:613845 | Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder)" +BMGC_DS14026,BMG_DS053809,"OSTEOGENESIS IMPERFECTA, TYPE X | osteogenesis imperfecta type 10 | OMIM ID:600943 | UMLS ID:C3151211 | OMIM ID:613848 | MONDO:0013459" +BMGC_DS14027,BMG_DS053810,"OSTEOGENESIS IMPERFECTA, TYPE XI | osteogenesis imperfecta type 11 | OMIM ID:610968 | UMLS ID:C3151218 | OMIM ID:607063 | MONDO:0012592" +BMGC_DS14028,BMG_DS053811,OMIM ID:136836 | fucosyltransferase 6 deficiency | MONDO:0013462 | FUCOSYLTRANSFERASE 6 DEFICIENCY | OMIM ID:613852 | UMLS ID:C3151219 +BMGC_DS14029,BMG_DS053812,"UMLS ID:C3151221 | congenital heart defects, multiple types, 6 | OMIM ID:613854 | MONDO:0013463" +BMGC_DS14030,BMG_DS053813,DOID:0080406 | OMIM ID:613857 | UMLS ID:C3151222 | OROFACIAL CLEFT 13 | MONDO:0013466 | orofacial cleft 13 +BMGC_DS14031,BMG_DS053814,FICOLIN 3 DEFICIENCY | immunodeficiency due to ficolin3 deficiency | OMIM ID:613860 | OMIM ID:604973 | UMLS ID:C3151226 | MONDO:0013467 +BMGC_DS14032,BMG_DS053815,retinitis pigmentosa 59 | MONDO:0013468 | RETINITIS PIGMENTOSA 59 | UMLS ID:C3151227 | OMIM ID:613861 | OMIM ID:608172 +BMGC_DS14033,BMG_DS053816,OMIM ID:604705 | MONDO:0013469 | RETINITIS PIGMENTOSA 38 | OMIM ID:613862 | UMLS ID:C3151228 | retinitis pigmentosa 38 +BMGC_DS14034,BMG_DS053817,"febrile seizures, familial, 3b | OMIM ID:613863 | MONDO:0800354 | FEBRILE SEIZURES, FAMILIAL, 3B | UMLS ID:C3151229" +BMGC_DS14035,BMG_DS053818,"UMLS ID:C3151230 | OMIM ID:613865 | MONDO:0013471 | DEAFNESS, AUTOSOMAL RECESSIVE 61 | autosomal recessive nonsyndromic hearing loss 61 | OMIM ID:604943" +BMGC_DS14036,BMG_DS053819,"Hirschsprung disease, cardiac defects, and autonomic dysfunction | Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction | MONDO:0013473 | OMIM ID:613870 | MeSH ID:C563939 | UMLS ID:C3151237" +BMGC_DS14037,BMG_DS053820,"OMIM ID:613873 | MONDO:0013474 | UMLS ID:C3151264 | DOID:0110323 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 | hypertrophic cardiomyopathy 17" +BMGC_DS14038,BMG_DS053821,"OMIM ID:172405 | OMIM ID:613874 | DOID:0110324 | hypertrophic cardiomyopathy 18 | UMLS ID:C3151265 | MONDO:0013475 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18" +BMGC_DS14039,BMG_DS053822,"UMLS ID:C3151267 | DOID:0110326 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 | OMIM ID:613121 | hypertrophic cardiomyopathy 20 | OMIM ID:613876 | MONDO:0013477" +BMGC_DS14040,BMG_DS053823,"OMIM ID:603883 | OMIM ID:613881 | UMLS ID:C3151293 | CARDIOMYOPATHY, DILATED, 1HH | MONDO:0013479 | dilated cardiomyopathy 1HH" +BMGC_DS14041,BMG_DS053824,"OMIM ID:613882 | MONDO:0013480 | HYPOMAGNESEMIA 6, RENAL | UMLS ID:C3151295 | renal hypomagnesemia 6 | OMIM ID:607803" +BMGC_DS14042,BMG_DS053825,OMIM ID:613884 | chromosome 13q14 deletion syndrome | MONDO:0013481 | UMLS ID:C3151302 +BMGC_DS14043,BMG_DS053826,"UMLS ID:C3151303 | MONDO:0013483 | OMIM ID:613886 | obesity, hyperphagia, and developmental delay | Obesity, Hyperphagia, and Developmental Delay | MeSH ID:C563938" +BMGC_DS14044,BMG_DS053827,UMLS ID:C3151304 | cataract 36 | CATARACT 36 | OMIM ID:611258 | DOID:0110247 | OMIM ID:613887 | MONDO:0013484 +BMGC_DS14045,BMG_DS053828,UMLS ID:C3151343 | OMIM ID:613909 | SPINOCEREBELLAR ATAXIA 32 | MONDO:0013486 | spinocerebellar ataxia type 32 +BMGC_DS14046,BMG_DS053829,"LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS | MONDO:0013488 | lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis | UMLS ID:C3151347 | OMIM ID:613913" +BMGC_DS14047,BMG_DS053830,"OMIM ID:601421 | OMIM ID:613916 | UMLS ID:C3151351 | DEAFNESS, AUTOSOMAL RECESSIVE 89 | autosomal recessive nonsyndromic hearing loss 89 | MONDO:0013489" +BMGC_DS14048,BMG_DS053831,UMLS ID:C3151355 | DOID:0080318 | OMIM ID:611642 | megalencephalic leukoencephalopathy with subcortical cysts 2A | OMIM ID:613925 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | MONDO:0013490 +BMGC_DS14049,BMG_DS053832,"DOID:0080317 | megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | OMIM ID:611642 | MONDO:0013491 | megalencephalic leukoencephalopathy with subcortical cysts 2B | UMLS ID:C3151356 | OMIM ID:613926 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT" +BMGC_DS14050,BMG_DS053833,DOID:0080951 | alopecia-mental retardation syndrome 3 | MONDO:0013492 | ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 3 | UMLS ID:C3151362 | OMIM ID:613930 | alopecia-intellectual disability syndrome 3 +BMGC_DS14051,BMG_DS053834,"OMIM ID:613938 | MONDO:0100226 | parasomnia, sleepwalking type | UMLS ID:C3151363 | PARASOMNIA, SLEEPWALKING TYPE" +BMGC_DS14052,BMG_DS053835,"PARASOMNIA, SLEEP TERRORS TYPE | MONDO:0800355 | parasomnia, sleep terrors type | OMIM ID:613938 | UMLS ID:C3151364" +BMGC_DS14053,BMG_DS053836,"MONDO:0013496 | UMLS ID:C3151378 | OMIM ID:613944 | IgA nephropathy, susceptibility to, 2" +BMGC_DS14054,BMG_DS053837,OMIM ID:613949 | MONDO:0013497 | OMIM ID:186940 | OKT4 EPITOPE DEFICIENCY | UMLS ID:C3151379 | Okt4 epitope deficiency +BMGC_DS14055,BMG_DS053838,MONDO:0013498 | UMLS ID:C3151380 | schizophrenia 15 | OMIM ID:613950 +BMGC_DS14056,BMG_DS053839,"OMIM ID:613955 | AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2 | OMIM ID:609510 | UMLS ID:C3151404 | amyloidosis, primary localized cutaneous, 2 | primary localized cutaneous amyloidosis 2 | DOID:0080931 | MONDO:0013502" +BMGC_DS14057,BMG_DS053840,"OMIM ID:606496 | MONDO:0013503 | UMLS ID:C3151405 | CANDIDIASIS, FAMILIAL, 6 | candidiasis, familial, 6 | OMIM ID:613956" +BMGC_DS14058,BMG_DS053841,SPERMATOGENIC FAILURE 8 | MONDO:0013504 | UMLS ID:C3151406 | OMIM ID:184757 | OMIM ID:613957 | DOID:0070169 | spermatogenic failure 8 +BMGC_DS14059,BMG_DS053842,spermatogenic failure 9 | DOID:0111156 | OMIM ID:613958 | UMLS ID:C3151407 | OMIM ID:613893 | MONDO:0013505 | SPERMATOGENIC FAILURE 9 +BMGC_DS14060,BMG_DS053843,SCHIZOPHRENIA 16 | OMIM ID:613959 | MONDO:0013506 | schizophrenia 16 | UMLS ID:C3151408 | DOID:0070092 +BMGC_DS14061,BMG_DS053844,"DOID:0070194 | OMIM ID:601488 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | UMLS ID:C3151409 | MONDO:0013507 | OMIM ID:613960 | autosomal recessive chronic granulomatous disease 3" +BMGC_DS14062,BMG_DS053845,"OMIM ID:613969 | myopia 19, autosomal dominant | MONDO:0013508 | UMLS ID:C3151410 | MYOPIA 19, AUTOSOMAL DOMINANT" +BMGC_DS14063,BMG_DS053846,"UMLS ID:C3151411 | OMIM ID:613970 | MONDO:0013509 | intellectual disability, autosomal dominant 6" +BMGC_DS14064,BMG_DS053847,"MONDO:0013510 | melanoma, cutaneous malignant, susceptibility to, 6 | UMLS ID:C3151417 | OMIM ID:613972" +BMGC_DS14065,BMG_DS053848,"OMIM ID:613977 | MONDO:0013511 | UMLS ID:C3151421 | CYANOSIS, TRANSIENT NEONATAL | cyanosis, transient neonatal | OMIM ID:142250" +BMGC_DS14066,BMG_DS053849,"OMIM ID:613980 | atrial fibrillation, familial, 9 | ATRIAL FIBRILLATION, FAMILIAL, 9 | UMLS ID:C3151431 | OMIM ID:600681 | MONDO:0013513" +BMGC_DS14067,BMG_DS053850,UMLS ID:C3151432 | hypotrichosis 3 | OMIM ID:613981 | HYPOTRICHOSIS 3 | DOID:0110700 | OMIM ID:608248 | MONDO:0013514 +BMGC_DS14068,BMG_DS053851,"OSTEOGENESIS IMPERFECTA, TYPE XII | MONDO:0013460 | UMLS ID:C3151433 | OMIM ID:606633 | OMIM ID:613849 | osteogenesis imperfecta type 12" +BMGC_DS14069,BMG_DS053852,OMIM ID:613979 | OMIM ID:613983 | RETINITIS PIGMENTOSA 60 | MONDO:0013516 | UMLS ID:C3151434 | retinitis pigmentosa 60 +BMGC_DS14070,BMG_DS053853,"pituitary hormone deficiency, combined, 6 | PITUITARY HORMONE DEFICIENCY, COMBINED, 6 | DOID:0061022 | OMIM ID:613986 | combined pituitary hormone deficiency 6 | UMLS ID:C3151440 | MONDO:0013518 | OMIM ID:600037" +BMGC_DS14071,BMG_DS053854,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 | DOID:0070017 | OMIM ID:613987 | OMIM ID:606470 | autosomal recessive dyskeratosis congenita 2 | UMLS ID:C3151441 | dyskeratosis congenita, autosomal recessive 2 | MONDO:0013519" +BMGC_DS14072,BMG_DS053855,"OMIM ID:613988 | MONDO:0013520 | UMLS ID:C3151442 | dyskeratosis congenita, autosomal recessive 3" +BMGC_DS14073,BMG_DS053856,"MONDO:0013521 | UMLS ID:C3151443 | DOID:0070016 | dyskeratosis congenita, autosomal dominant 2 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 | autosomal dominant dyskeratosis congenita 2 | OMIM ID:187270 | OMIM ID:613989" +BMGC_DS14074,BMG_DS053857,autosomal recessive dyskeratosis congenita 4 | MONDO:0027353 | UMLS ID:C3151444 +BMGC_DS14075,BMG_DS053858,"UMLS ID:C3151445 | OMIM ID:613990 | dyskeratosis congenita, autosomal dominant 3 | MONDO:0013522" +BMGC_DS14076,BMG_DS053859,NGPS - Nestor Guillermo progeria syndrome | MONDO:0013523 | UMLS ID:C3151446 | SNOMEDCT ID:773331001 | Nestor Guillermo progeria syndrome | OMIM ID:614008 | Nestor-Guillermo progeria syndrome | Nestor Guillermo progeria syndrome (disorder) +BMGC_DS14077,BMG_DS053860,"primary ciliary dyskinesia 16 | OMIM ID:610062 | MONDO:0013525 | OMIM ID:614017 | CILIARY DYSKINESIA, PRIMARY, 16 | UMLS ID:C3151460" +BMGC_DS14078,BMG_DS053861,OMIM ID:609449 | lissencephaly 4 | OMIM ID:614019 | LISSENCEPHALY 4 WITH MICROCEPHALY | MONDO:0013527 | UMLS ID:C3151461 | DOID:0112235 +BMGC_DS14079,BMG_DS053862,"intellectual disability, autosomal recessive 14 | OMIM ID:614020 | UMLS ID:C3151462 | MONDO:0013528" +BMGC_DS14080,BMG_DS053863,"MONDO:0013529 | UMLS ID:C3151463 | OMIM ID:617242 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 | catecholaminergic polymorphic ventricular tachycardia 3 | OMIM ID:614021" +BMGC_DS14081,BMG_DS053864,"MONDO:0013530 | OMIM ID:614022 | atrial fibrillation, familial, 10 | ATRIAL FIBRILLATION, FAMILIAL, 10 | UMLS ID:C3151464 | OMIM ID:600163" +BMGC_DS14082,BMG_DS053865,protein Z deficiency | UMLS ID:C3151465 | MONDO:0013532 | OMIM ID:176895 | OMIM ID:614024 | PROTEIN Z DEFICIENCY +BMGC_DS14083,BMG_DS053866,hyperlipidemia due to hepatic triglyceride lipase deficiency | UMLS ID:C3151466 | OMIM ID:614025 | MONDO:0013533 +BMGC_DS14084,BMG_DS053867,apolipoprotein C-III deficiency | MONDO:0013534 | apolipoprotein c-III deficiency | Apolipoprotein C-III Deficiency | UMLS ID:C3151467 | OMIM ID:614028 | DOID:0111370 | MeSH ID:C566270 +BMGC_DS14085,BMG_DS053868,UMLS ID:C3151476 | OMIM ID:245400 | MONDO:0009504 | OMIM ID:611224 | mitochondrial DNA depletion syndrome 9 | MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) +BMGC_DS14086,BMG_DS053869,"UMLS ID:C3151482 | OMIM ID:248250 | OMIM ID:603959 | HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING" +BMGC_DS14087,BMG_DS053870,"OMIM ID:248910 | Hennekam-Beemer syndrome | UMLS ID:C3151493 | MONDO:0009569 | CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA" +BMGC_DS14088,BMG_DS053872,"UMLS ID:C3151519 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | MONDO:0009667 | OMIM ID:606822 | DOID:0111236 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 | OMIM ID:253280 | congenital muscular dystrophy-dystroglycanopathy type A3" +BMGC_DS14089,BMG_DS053873,OMIM ID:610467 | congenital myopathy 11 | MONDO:0859264 | UMLS ID:C3151531 | CONGENITAL MYOPATHY 11 | OMIM ID:619967 +BMGC_DS14090,BMG_DS053874,"DOID:0080383 | OMIM ID:256370 | nephrotic syndrome type 4 | NEPHROTIC SYNDROME, TYPE 4 | MONDO:0009733 | nephrotic syndrome, type 4 | UMLS ID:C3151568 | OMIM ID:607102" +BMGC_DS14091,BMG_DS053875,"nystagmus, congenital, autosomal recessive | DOID:0111797 | OMIM ID:257400 | NYSTAGMUS 8, CONGENITAL, AUTOSOMAL RECESSIVE | autosomal recessive congenital nystagmus | MONDO:0009762 | OMIM ID:602430 | UMLS ID:C3151571" +BMGC_DS14092,BMG_DS053876,"MONDO:0009800 | UMLS ID:C3151572 | Blount disease, adolescent | BLOUNT DISEASE, ADOLESCENT | OMIM ID:259200" +BMGC_DS14093,BMG_DS053877,"OMIM ID:602337 | DOID:0060764 | ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS | UMLS ID:C3151609 | autosomal recessive Robinow syndrome | OMIM ID:268310" +BMGC_DS14094,BMG_DS053878,"UMLS ID:C3151610 | OMIM ID:602337 | DOID:0060764 | autosomal recessive Robinow syndrome | ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY | OMIM ID:268310" +BMGC_DS14095,BMG_DS053879,DOID:0080612 | OMIM ID:269400 | anterior segment dysgenesis 7 | ANTERIOR SEGMENT DYSGENESIS 7 | UMLS ID:C3151617 | MONDO:0010015 | OMIM ID:605158 +BMGC_DS14096,BMG_DS053880,"UMLS ID:C3151619 | OMIM ID:270500 | ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND IMPAIRED INTELLECTUAL DEVELOPMENT | ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability | MONDO:0010040" +BMGC_DS14097,BMG_DS053882,"OMIM ID:300808 | MONDO:0010435 | OMIM ID:300814 | UMLS ID:C3151752 | NYSTAGMUS 6, CONGENITAL, X-LINKED | DOID:0111795 | congenital nystagmus 6 | nystagmus 6, congenital, X-linked" +BMGC_DS14098,BMG_DS053883,UMLS ID:C3151753 | MONDO:0010437 | OMIM ID:300816 | severe X-linked mitochondrial encephalomyopathy | combined oxidative phosphorylation deficiency 6 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 | OMIM ID:300169 | DOID:0111502 +BMGC_DS14099,BMG_DS053884,"CK syndrome | DOID:0111898 | X-linked intellectual disability, microcephaly, cortical malformation, thin habitus syndrome | SNOMEDCT ID:773329005 | UMLS ID:C3151781 | OMIM ID:300831 | CK syndrome (disorder) | MONDO:0010441" +BMGC_DS14100,BMG_DS053885,"DOID:0111762 | MONDO:0010442 | 46,XX SEX REVERSAL 3 | OMIM ID:300833 | 46,XX sex reversal 3 | UMLS ID:C3151782" +BMGC_DS14101,BMG_DS053886,"CHROMOSOME Xq26 DELETION SYNDROME | UMLS ID:C3151783 | DOID:0111762 | OMIM ID:300833 | 46,XX sex reversal 3" +BMGC_DS14102,BMG_DS053887,"UMLS ID:C3151784 | OMIM ID:300834 | macular degeneration, X-linked atrophic | DOID:0112157 | OMIM ID:312610 | MONDO:0010443 | MACULAR DEGENERATION, ATROPHIC, X-LINKED | X-linked atrophic macular degeneration" +BMGC_DS14103,BMG_DS053889,"OMIM ID:300845 | moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | UMLS ID:C3151857 | MONDO:0010448 | MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM" +BMGC_DS14104,BMG_DS053890,"UMLS ID:C3151867 | congenital heart defects, multiple types, 1, X-linked | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED | OMIM ID:300265 | MONDO:0800321 | OMIM ID:306955" +BMGC_DS14105,BMG_DS053892,"OMIM ID:516030 | mitochondrial nonsyndromic sensorineural deafness | mitochondrial non-syndromic sensorineural hearing loss | DOID:0111751 | OMIM ID:590045 | OMIM ID:500008 | MONDO:0010779 | OMIM ID:590080 | OMIM ID:590040 | OMIM ID:516000 | OMIM ID:561000 | UMLS ID:C3151897 | DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL" +BMGC_DS14106,BMG_DS053893,"OMIM ID:500009 | UMLS ID:C3151898 | mitochondrial myopathy with reversible cytochrome C oxidase deficiency | MONDO:0010780 | MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT | OMIM ID:590025" +BMGC_DS14107,BMG_DS053895,"OMIM ID:560000 | UMLS ID:C3151959 | MONDO:0010798 | RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA | proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome" +BMGC_DS14108,BMG_DS053898,D-2-hydroxyglutaric aciduria 1 | DOID:0111351 | D-2-HYDROXYGLUTARIC ACIDURIA 1 | OMIM ID:600721 | UMLS ID:C3152055 | MONDO:0024554 | OMIM ID:609186 +BMGC_DS14109,BMG_DS053899,"DOID:0070304 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY | multiple epiphyseal dysplasia 3 | OMIM ID:600969 | UMLS ID:C3152083 | OMIM ID:120270" +BMGC_DS14110,BMG_DS053900,"USH1D/F, CDH23/PCDH15, DIGENIC | UMLS ID:C3152102 | OMIM ID:601067" +BMGC_DS14111,BMG_DS053901,OMIM ID:605906 | OMIM ID:601493 | LEFT VENTRICULAR NONCOMPACTION 3 | UMLS ID:C3152137 +BMGC_DS14112,BMG_DS053902,"OMIM ID:601495 | AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE | agammaglobulinemia 1 | MONDO:0020729 | DOID:0081136 | autosomal recessive agammaglobulinemia 1 | UMLS ID:C3152144" +BMGC_DS14113,BMG_DS053904,"OMIM ID:614456 | UMLS ID:C3152204 | melanoma, cutaneous malignant, susceptibility to, 8 | MONDO:0013759" +BMGC_DS14114,BMG_DS053906,MONDO:0010446 | X-linked cone dysfunction syndrome with myopia | BORNHOLM EYE DISEASE | UMLS ID:C3159311 | OMIM ID:300843 +BMGC_DS14115,BMG_DS053907,"SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE | spondyloepiphyseal dysplasia Maroteaux type | OMIM ID:184095 | DOID:0111553 | OMIM ID:605427 | MONDO:0008473 | UMLS ID:C3159322 | spondyloepimetaphyseal dysplasia, Maroteaux type" +BMGC_DS14116,BMG_DS053908,"DOID:0060892 | OMIM ID:168600 | UMLS ID:C3160718 | MONDO:0008199 | late-onset Parkinson disease | late onset Parkinson's disease | PARKINSON DISEASE, LATE-ONSET" +BMGC_DS14117,BMG_DS053909,"MONDO:0008072 | UMLS ID:C3160719 | OMIM ID:161950 | IgA nephropathy, susceptibility to, 1" +BMGC_DS14118,BMG_DS053910,"OMIM ID:613694 | MONDO:0013371 | MeSH ID:C566296 | dilated cardiomyopathy 1U | Cardiomyopathy, Dilated, 1u | UMLS ID:C3160720" +BMGC_DS14119,BMG_DS053911,UMLS ID:C3160733 | OMIM ID:188050 | thrombophilia due to thrombin defect | MONDO:0008559 | DOID:0111907 +BMGC_DS14120,BMG_DS053912,"DEAFNESS, AUTOSOMAL DOMINANT 51 | OMIM ID:613558 | MONDO:0013305 | UMLS ID:C3160736 | autosomal dominant nonsyndromic hearing loss 51" +BMGC_DS14121,BMG_DS053913,"UMLS ID:C3160738 | OMIM ID:613984 | MONDO:0009214 | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | OMIM ID:227646 | DOID:0111083 | Fanconi anemia complementation group D2" +BMGC_DS14122,BMG_DS053914,"DOID:0111084 | OMIM ID:600901 | Fanconi anemia complementation group E | UMLS ID:C3160739 | FANCONI ANEMIA, COMPLEMENTATION GROUP E | OMIM ID:613976 | MONDO:0010953" +BMGC_DS14123,BMG_DS053915,"autosomal recessive nonsyndromic hearing loss 85 | UMLS ID:C3160740 | MONDO:0013250 | DEAFNESS, AUTOSOMAL RECESSIVE 85 | OMIM ID:613392" +BMGC_DS14124,BMG_DS053919,Reversible posterior leukoencephalopathy syndrome | Reversible posterior leucoencephalopathy syndrome | ICD10 ID:I67.83 | SNOMEDCT ID:450886002 | Posterior reversible encephalopathy syndrome (disorder) | Posterior reversible encephalopathy syndrome | UMLS ID:C3160858 +BMGC_DS14125,BMG_DS053931,Secondary spontaneous pneumothorax | UMLS ID:C3161098 | ICD10 ID:J93.12 | SNOMEDCT ID:328571000119101 | Secondary spontaneous pneumothorax (disorder) +BMGC_DS14126,BMG_DS053938,OMIM ID:613978 | hemoglobin H disease | UMLS ID:C3161174 | MONDO:0013512 +BMGC_DS14127,BMG_DS053939,"Hydrops fetalis due to alpha thalassemia | DOID:0110031;DOID:0110029;DOID:0110030 | ICD10 ID:D56.0 | 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" +BMGC_DS14128,BMG_DS053956,Primary immunoglobulin A nephropathy (disorder) | Primary IgA nephropathy | UMLS ID:C3161650 | Primary immunoglobulin A nephropathy | Focal glomerulonephritis | SNOMEDCT ID:68779003 | Berger's disease +BMGC_DS14129,BMG_DS053976,SNOMEDCT ID:448739000 | UMLS ID:C3163798 | Recurrent lower respiratory tract infection | Recurrent lower respiratory tract infection (disorder) +BMGC_DS14130,BMG_DS053983,Sepsis caused by Gram negative bacteria | SNOMEDCT ID:449082003 | Severe sepsis with acute organ dysfunction caused by Gram-negative bacteria | Sepsis caused by Gram negative bacteria (disorder) | UMLS ID:C3163829 +BMGC_DS14131,BMG_DS054033,Adult onset autosomal dominant leucodystrophy | Adult onset autosomal dominant leukodystrophy | DOID:0060785 | adult-onset autosomal dominant demyelinating leukodystrophy | Adult onset autosomal dominant leukodystrophy (disorder) | UMLS ID:C3164344 | SNOMEDCT ID:448054001 +BMGC_DS14132,BMG_DS054035,Severe sepsis with acute organ dysfunction caused by methicillin resistant Staphylococcus aureus | SNOMEDCT ID:448812000 | Sepsis caused by methicillin resistant Staphylococcus aureus (disorder) | UMLS ID:C3164390 | Sepsis caused by methicillin resistant Staphylococcus aureus +BMGC_DS14133,BMG_DS054147,Widespread Chronic Pain | Chronic Pain | UMLS ID:C3178789 | MeSH ID:D059350 +BMGC_DS14134,BMG_DS054149,MeSH ID:D059446 | UMLS ID:C3178805 | visceral heterotaxy | MONDO:0018677 | Heterotaxy Syndrome +BMGC_DS14135,BMG_DS054150,UMLS ID:C3178806 | right atrial isomerism | OMIM ID:208530 | MONDO:0008832 +BMGC_DS14136,BMG_DS054155,UMLS ID:C3178898 | OMIM ID:182260 | MeSH ID:D060048 | MONDO:0018382 | Bilateral Slipped Capital Femoral Epiphyses | epiphysiolysis of the hip | Slipped Capital Femoral Epiphyses +BMGC_DS14137,BMG_DS054156,OMIM ID:182260 | MeSH ID:D060048 | MONDO:0018382 | UMLS ID:C3178899 | Unilateral Slipped Capital Femoral Epiphyses | epiphysiolysis of the hip | Slipped Capital Femoral Epiphyses +BMGC_DS14138,BMG_DS054167,UMLS ID:C3178973 | Disseminated Fusariosis | Fusariosis | fusariosis | DOID:0050289 | MeSH ID:D060585 +BMGC_DS14139,BMG_DS054168,Fusariosis | fusariosis | DOID:0050289 | UMLS ID:C3178974 | Pulmonary Fusariosis | MeSH ID:D060585 +BMGC_DS14140,BMG_DS054173,GALNS Deficiency | UMLS ID:C3179194 | Mucopolysaccharidosis IV | MeSH ID:D009085 +BMGC_DS14141,BMG_DS054174,UMLS ID:C3179239 | MONDO:0008156 | autosomal dominant osteopetrosis 2 | OMIM ID:166600 | Osteopetrosis | MeSH ID:D010022 | DOID:0110938 | Osteopetrosis Autosomal Dominant Type 2 +BMGC_DS14142,BMG_DS054175,"UMLS ID:C3179450 | Pott's Paraplegia | MeSH ID:D014399 | Tuberculosis, Spinal" +BMGC_DS14143,BMG_DS054176,"Niemann-Pick Disease, Type C | Niemann-Pick disease, type C1 | MONDO:0009757 | MeSH ID:D052556 | UMLS ID:C3179455 | Niemann-Pick Disease, Type C1 | 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 | DOID:0060393 | MeSH ID:C557830 | UMLS ID:C3180937 | chromosome 15q11.2 deletion syndrome | MONDO:0014294 | OMIM ID:615656 +BMGC_DS14146,BMG_DS054183,"DOID:0060068 | UMLS ID:C3202971 | MeSH ID:D059905 | Non-Infective Endocarditis | Endocarditis, Non-Infective | nonbacterial thrombotic endocarditis" +BMGC_DS14147,BMG_DS054185,OMIM ID:144050 | Hyperheparinemia (disorder) | MeSH ID:C562723 | UMLS ID:C3203346 | Hyperheparinemia | MONDO:0007752 | hyperheparinemia | ICD10 ID:D68.32 | SNOMEDCT ID:79674009 | Hyperheparinaemia +BMGC_DS14148,BMG_DS054186,SNOMEDCT ID:73975000 | UMLS ID:C3203356 | Deficiency of factor II or prothrombin | Factor II deficiency (disorder) | Hypoprothrombinaemia | Hypoprothrombinemia | SNOMEDCT ID:191283001 | Deficiency of factor II &/or prothrombin | Deficiency of factor II &/or prothrombin (disorder) | Prothrombin deficiency | Factor II deficiency +BMGC_DS14149,BMG_DS054189,MeSH ID:D000089183 | UMLS ID:C3203547 | Axial Spondyloarthritis +BMGC_DS14150,BMG_DS054192,Chest Pain | UMLS ID:C3203733 | Precordial Catch Syndrome | MeSH ID:D002637 +BMGC_DS14151,BMG_DS054194,DOID:0080208 | metabolic dysfunction-associated steatohepatitis | metabolic dysfunction-associated steatotic liver disease | UMLS ID:C3241937 | MeSH ID:D065626 | Non-alcoholic Fatty Liver Disease | Nonalcoholic Steatohepatitis | MONDO:0007027 +BMGC_DS14152,BMG_DS054201,MONDO:0024229 | ICD11 ID:EE02.Y | DOID:0070321 | miliaria crystallina | ICD10 ID:L74.1 | SNOMEDCT ID:44279002 | Sweat rash | UMLS ID:C3241961 | Miliaria crystallina | Miliaria crystallina (disorder) | Other specified forms of miliaria | Sudamina +BMGC_DS14153,BMG_DS054205,UMLS ID:C3245525 | familial renal glucosuria | MONDO:0009297 | SNOMEDCT ID:226309007 | OMIM ID:233100 | Renal glucosuria (disorder) | DOID:0070613 | Familial renal glucosuria (disorder) | Renal glucosuria | SNOMEDCT ID:1913007 | Familial renal glucosuria +BMGC_DS14154,BMG_DS054214,OMIM ID:160900 | myotonic dystrophy type 1 | MONDO:0008056 | UMLS ID:C3250443 | MYOTONIC DYSTROPHY 1 | OMIM ID:605377 +BMGC_DS14155,BMG_DS054515,Lupoid hepatitis NEC | Autoimmune hepatitis | UMLS ID:C3264460 | ICD11 ID:DB96.0 | ICD10 ID:K75.4 +BMGC_DS14156,BMG_DS054557,Mixed Astigmatism | MeSH ID:D001251 | UMLS ID:C3266021 | Astigmatism +BMGC_DS14157,BMG_DS054558,Oblique Astigmatism | UMLS ID:C3266022 | MeSH ID:D001251 | Astigmatism +BMGC_DS14158,BMG_DS054568,orofacial cleft | UMLS ID:C3266076 | MONDO:0000358 +BMGC_DS14159,BMG_DS054592,MeSH ID:D000071069 | Multiple Chronic Conditions | UMLS ID:C3266262 +BMGC_DS14160,BMG_DS054609,UMLS ID:C3266731 | SNOMEDCT ID:791000124107 | 2-methyl-3-hydroxybutyric aciduria | OMIM ID:300438 | MONDO:0010327 | HSD10 disease | HSD10 mitochondrial disease | OMIM ID:300220 | 2-methyl-3-hydroxybutyric aciduria (disorder) +BMGC_DS14161,BMG_DS054616,"MeSH ID:D009165 | Atypical Mycobacteriosis, Familial | UMLS ID:C3266863 | MONDO:0019146 | inherited susceptibility to mycobacterial diseases | Mycobacterium Infections, Nontuberculous" +BMGC_DS14162,BMG_DS054618,UMLS ID:C3266898 | MeSH ID:D014849 | Waardenburg syndrome | MONDO:0018094 | DOID:9258 | Waardenburg Syndrome +BMGC_DS14163,BMG_DS054641,MONDO:0100290 | colon serrated polyposis | UMLS ID:C3272797 +BMGC_DS14164,BMG_DS054643,gastrointestinal hamartoma | UMLS ID:C3272802 | MONDO:0006231 +BMGC_DS14165,BMG_DS054649,MONDO:0012041 | UMLS ID:C3272841 | OMIM ID:608456 | familial adenomatous polyposis 2 +BMGC_DS14166,BMG_DS054656,DOID:8151 | appendix L-cell glucagon-like peptide-producing neuroendocrine tumor | UMLS ID:C3274138 | appendiceal L-cell glucagon-like peptide producing tumor | MONDO:0021101 +BMGC_DS14167,BMG_DS054657,DOID:7401 | MONDO:0004210 | UMLS ID:C3274139 | colonic L-cell glucagon-like peptide producing tumor +BMGC_DS14168,BMG_DS054658,DOID:7402 | L-cell glucagon-like peptide-producing neuroendocrine tumor | L-cell glucagon-like peptide producing tumor | MONDO:0004211 | UMLS ID:C3274140 +BMGC_DS14169,BMG_DS054659,small intestinal L-cell glucagon-like peptide producing tumor | UMLS ID:C3274143 | MONDO:0004252 | DOID:7506 +BMGC_DS14170,BMG_DS054663,"OMIM ID:300422 | UMLS ID:C3275356 | MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS" +BMGC_DS14171,BMG_DS054664,"OMIM ID:300799 | OMIM ID:300646 | syndromic X-linked intellectual disability Raymond type | MONDO:0010427 | UMLS ID:C3275406 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE" +BMGC_DS14172,BMG_DS054665,"intellectual disability, X-linked 96 | UMLS ID:C3275408 | MONDO:0010429 | OMIM ID:313475 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 | DOID:0112035 | non-syndromic X-linked intellectual disability 96 | OMIM ID:300802" +BMGC_DS14173,BMG_DS054666,"autism, susceptibility to, X-linked 5 | OMIM ID:300847 | UMLS ID:C3275438 | MONDO:0010449" +BMGC_DS14174,BMG_DS054667,"MONDO:0010452 | intellectual disability, X-linked 90 | UMLS ID:C3275443 | OMIM ID:300850" +BMGC_DS14175,BMG_DS054668,"intellectual disability, X-linked 88 | non-syndromic X-linked intellectual disability 88 | OMIM ID:300852 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 88 | MONDO:0010454 | DOID:0112053 | UMLS ID:C3275444" +BMGC_DS14176,BMG_DS054669,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (disorder) | UMLS ID:C3275445 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | OMIM ID:300853 | SNOMEDCT ID:711481001 | MONDO:0010455" +BMGC_DS14177,BMG_DS054670,"OMIM ID:300854 | UMLS ID:C3275446 | renal cell carcinoma, Xp11-associated | MONDO:0010456" +BMGC_DS14178,BMG_DS054671,"MONDO:0010457 | OMIM ID:300855 | UMLS ID:C3275447 | Premature ageing appearance, developmental delay, cardiac arrhythmia syndrome | Premature aging appearance, developmental delay, cardiac arrhythmia syndrome | SNOMEDCT ID:771442003 | Ogden syndrome | Ogden syndrome (disorder)" +BMGC_DS14179,BMG_DS054673,AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | amyotrophic lateral sclerosis type 15 | OMIM ID:300857 | OMIM ID:300264 | MONDO:0010459 | UMLS ID:C3275459 | DOID:0060206 +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 | MONDO:0010461 | syndromic X-linked intellectual disability Nascimento type | UMLS ID:C3275464 | OMIM ID:312180 | OMIM ID:300860" +BMGC_DS14182,BMG_DS054676,syndromic X-linked intellectual disability Chudley-Schwartz type | MONDO:0010462 | UMLS ID:C3275471 | OMIM ID:300861 +BMGC_DS14183,BMG_DS054677,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type | OMIM ID:300272 | UMLS ID:C3275476 | CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA | OMIM ID:300863 | MONDO:0010463 | DOID:0112106 | chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" +BMGC_DS14184,BMG_DS054678,"X-linked intellectual disability Kroes type | X-linked cerebral-cerebellar-coloboma syndrome syndrome | MONDO:0010464 | UMLS ID:C3275487 | X-linked cerebral, cerebellar, coloboma syndrome | OMIM ID:300864 | X-linked cerebral, cerebellar, coloboma syndrome (disorder) | SNOMEDCT ID:770604006" +BMGC_DS14185,BMG_DS054679,Kabuki syndrome 2 | MONDO:0010465 | OMIM ID:300128 | UMLS ID:C3275495 | OMIM ID:300867 | KABUKI SYNDROME 2 +BMGC_DS14186,BMG_DS054680,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 | MONDO:0010466 | OMIM ID:311770 | DOID:0080139 | OMIM ID:300868 | multiple congenital anomalies-hypotonia-seizures syndrome 2 | UMLS ID:C3275508 +BMGC_DS14187,BMG_DS054681,Xq27.3q28 duplication syndrome | CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME | MONDO:0010467 | OMIM ID:300869 | UMLS ID:C3275521 +BMGC_DS14188,BMG_DS054682,"UMLS ID:C3275544 | nonsyndromic congenital nail disorder 6 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6 | MONDO:0007135 | OMIM ID:107000 | DOID:0080084" +BMGC_DS14189,BMG_DS054683,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16 | OMIM ID:305400 | OMIM ID:300546 | UMLS ID:C3275558" +BMGC_DS14190,BMG_DS054684,"UMLS ID:C3275625 | MONDO:0010696 | omphalocele, X-linked | OMIM ID:310980" +BMGC_DS14191,BMG_DS054686,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 | mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 | mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 | OMIM ID:500015 | UMLS ID:C3275684 | DOID:0111748 | OMIM ID:516060 | MONDO:0027069" +BMGC_DS14192,BMG_DS054688,"OMIM ID:601331 | UMLS ID:C3275898 | renal dysplasia, cystic, susceptibility to | MONDO:0011037" +BMGC_DS14193,BMG_DS054690,"LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME | MONDO:0011116 | OMIM ID:601612 | lung agenesis-heart defect-thumb anomalies syndrome | UMLS ID:C3275954" +BMGC_DS14194,BMG_DS054691,"MONDO:0100173 | leukemia, acute myeloid, susceptibility to | UMLS ID:C3275959" +BMGC_DS14195,BMG_DS054693,thrombocythemia 2 | OMIM ID:601977 | UMLS ID:C3275998 | OMIM ID:159530 | THROMBOCYTHEMIA 2 | MONDO:0011173 +BMGC_DS14196,BMG_DS054695,OMIM ID:108900 | UMLS ID:C3276096 | MONDO:0007173 | ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS | atrial septal defect 7 +BMGC_DS14197,BMG_DS054696,"arterial calcification, generalized, of infancy, 2 | UMLS ID:C3276161 | OMIM ID:603234 | OMIM ID:614473 | MONDO:0013768 | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2" +BMGC_DS14198,BMG_DS054697,UMLS ID:C3276228 | MONDO:0007044 | ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | Acrodysostosis 1 with or without hormone resistance | OMIM ID:101800 +BMGC_DS14199,BMG_DS054698,"OMIM ID:152427 | UMLS ID:C3276240 | LONG QT SYNDROME 2/3, DIGENIC | OMIM ID:613688 | OMIM ID:600163 | OMIM ID:603830" +BMGC_DS14200,BMG_DS054699,"OMIM ID:603796 | UMLS ID:C3276241 | OMIM ID:613693 | LONG QT SYNDROME 3/6, DIGENIC | OMIM ID:600163 | OMIM ID:603830" +BMGC_DS14201,BMG_DS054700,"mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | UMLS ID:C3276276 | OMIM ID:608918 | mitochondrial complex V (ATP synthase) deficiency nuclear type 1 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | MONDO:0011421 | OMIM ID:604273 | DOID:0050768" +BMGC_DS14202,BMG_DS054702,Multiple mitochondrial dysfunctions syndrome type 1 | NFU1 (NFU1 iron-sulfur cluster scaffold) deficiency | UMLS ID:C3276432 | MONDO:0011582 | SNOMEDCT ID:1208485009 | Multiple mitochondrial dysfunctions syndrome type 1 (disorder) | multiple mitochondrial dysfunctions syndrome 1 | OMIM ID:605711 | MMDS1 - multiple mitochondrial dysfunctions syndrome type 1 +BMGC_DS14203,BMG_DS054703,"cutis laxa, autosomal dominant 1 | UMLS ID:C3276539 | MONDO:0007411 | OMIM ID:123700 | OMIM ID:130160 | CUTIS LAXA, AUTOSOMAL DOMINANT 1" +BMGC_DS14204,BMG_DS054704,"UMLS ID:C3276549 | MONDO:0007429 | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | OMIM ID:125250 | OMIM ID:605290 | DOID:0111340 | dominant optic atrophy plus syndrome" +BMGC_DS14205,BMG_DS054707,"UMLS ID:C3276706 | MeSH ID:D000071075 | neuropathy, small fiber | Small Fiber Neuropathy | MONDO:0800207" +BMGC_DS14206,BMG_DS054713,KOILONYCHIA WITH LEUKONYCHIA | OMIM ID:149300 | UMLS ID:C3276971 | DOID:0080080 | nonsyndromic congenital nail disorder 2 +BMGC_DS14207,BMG_DS054714,"Bernard-Soulier syndrome, type A2, autosomal dominant | OMIM ID:153670 | BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT | Bernard-Soulier syndrome type A2 | UMLS ID:C3277076 | DOID:0111059 | MONDO:0007930 | OMIM ID:606672" +BMGC_DS14208,BMG_DS054715,OMIM ID:156200 | CHROMOSOME 2q23.1 DELETION SYNDROME | UMLS ID:C3277090 | autosomal dominant intellectual developmental disorder 1 | DOID:0070031 +BMGC_DS14209,BMG_DS054717,"UMLS ID:C3277235 | omphalocele, autosomal | MONDO:0008124 | OMPHALOCELE, AUTOSOMAL | OMIM ID:164750" +BMGC_DS14210,BMG_DS054719,thrombocythemia 1 | OMIM ID:187950 | MONDO:0008554 | OMIM ID:600044 | UMLS ID:C3277671 | THROMBOCYTHEMIA 1 +BMGC_DS14211,BMG_DS054721,"OMIM ID:152427 | OMIM ID:613688 | OMIM ID:607542 | UMLS ID:C3277700 | LONG QT SYNDROME 1/2, DIGENIC | OMIM ID:192500" +BMGC_DS14212,BMG_DS054722,UMLS ID:C3277701 | OMIM ID:193200 | MONDO:0700077 | vitiligo-associated multiple autoimmune disease susceptibility 6 +BMGC_DS14213,BMG_DS054723,JOUBERT SYNDROME 12 | UMLS ID:C3277723 | OMIM ID:611254 | OMIM ID:200990 +BMGC_DS14214,BMG_DS054724,"17,20-Lyase Deficiency, Isolated | MONDO:0800378 | UMLS ID:C3277849 | 17,20-lyase deficiency, isolated | MeSH ID:C567076" +BMGC_DS14215,BMG_DS054725,"OMIM ID:610573 | UMLS ID:C3277900 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 | OMIM ID:206800" +BMGC_DS14216,BMG_DS054727,fibrochondrogenesis 1 | OMIM ID:228520 | UMLS ID:C3278138 | DOID:0080672 | MONDO:0009226 | FIBROCHONDROGENESIS 1 +BMGC_DS14217,BMG_DS054728,"OMIM ID:606999 | UMLS ID:C3278146 | GALACTOSEMIA, DUARTE VARIANT | OMIM ID:230400" +BMGC_DS14218,BMG_DS054729,OMIM ID:612277 | MONDO:0009269 | OMIM ID:231050 | GELEOPHYSIC DYSPLASIA 1 | geleophysic dysplasia 1 | UMLS ID:C3278147 | DOID:0111725 +BMGC_DS14219,BMG_DS054730,"UMLS ID:C3278148 | BERNARD-SOULIER SYNDROME, TYPE A1 | OMIM ID:606672 | OMIM ID:231200" +BMGC_DS14220,BMG_DS054731,"OMIM ID:137760 | GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET | UMLS ID:C3278152 | OMIM ID:231300 | OMIM ID:601771" +BMGC_DS14221,BMG_DS054732,"OMIM ID:231300 | UMLS ID:C3278153 | GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET | OMIM ID:601771" +BMGC_DS14222,BMG_DS054733,OMIM ID:231680 | glutaric acidemia IIa | UMLS ID:C3278154 | OMIM ID:608053 | GLUTARIC ACIDEMIA IIA | MONDO:0700073 +BMGC_DS14223,BMG_DS054734,OMIM ID:231680 | OMIM ID:130410 | UMLS ID:C3278155 | glutaric acidemia IIb | GLUTARIC ACIDEMIA IIB | MONDO:0700074 +BMGC_DS14224,BMG_DS054735,OMIM ID:231680 | GLUTARIC ACIDEMIA IIC | MONDO:0700076 | OMIM ID:231675 | glutaric acidemia IIc | UMLS ID:C3278156 +BMGC_DS14225,BMG_DS054738,"OMIM ID:612336 | OMIM ID:176880 | thrombophilia due to protein S deficiency, autosomal dominant | autosomal dominant thrombophilia due to protein S deficiency | DOID:0111900 | MONDO:0012868 | UMLS ID:C3278211 | THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT" +BMGC_DS14226,BMG_DS054742,"OMIM ID:103920 | MONDO:0015243 | ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL | allergic bronchopulmonary aspergillosis | UMLS ID:C3278302" +BMGC_DS14227,BMG_DS054745,HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY | OMIM ID:240900 | hypoinsulinemic hypoglycemia with hemihypertrophy | UMLS ID:C3278384 | DOID:0112263 | hypoinsulinemic hypoglycemia and body hemihypertrophy | MONDO:0009416 +BMGC_DS14228,BMG_DS054746,"MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | UMLS ID:C3278404 | DOID:0080575 | Larsen-like syndrome, B3GAT3 type | Larsen-like syndrome B3GAT3 type | MONDO:0009511 | OMIM ID:245600" +BMGC_DS14229,BMG_DS054747,"OMIM ID:251270 | OMIM ID:610053 | DOID:0080105 | MONDO:0009624 | microcephaly and chorioretinopathy 1 | MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 | UMLS ID:C3278481" +BMGC_DS14230,BMG_DS054749,MONDO:0800308 | OMIM ID:258900 | DOID:0050833 | OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA | UMLS ID:C3278622 | orotic aciduria | orotic aciduria without megaloblastic anemia +BMGC_DS14231,BMG_DS054750,"transient infantile liver failure | MONDO:0013111 | LIVER FAILURE, INFANTILE, TRANSIENT | UMLS ID:C3278664 | OMIM ID:613070 | OMIM ID:610230 | acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | DOID:0080778" +BMGC_DS14232,BMG_DS054756,"OMIM ID:152427 | OMIM ID:613695 | OMIM ID:176261 | UMLS ID:C3279092 | LONG QT SYNDROME 2/5, DIGENIC | OMIM ID:613688" +BMGC_DS14233,BMG_DS054757,MONDO:0800382 | nephronophthisis 12 | Joubert syndrome 11 | DOID:0111119 | UMLS ID:C3279203 | OMIM ID:613820 | JOUBERT SYNDROME 11 +BMGC_DS14234,BMG_DS054763,UMLS ID:C3279470 | HYPOTRICHOSIS 8 | OMIM ID:278150 | DOID:0110705 | OMIM ID:609239 | MONDO:0010206 | hypotrichosis 8 +BMGC_DS14235,BMG_DS054764,Cryptozoospermia | UMLS ID:C3279550 | Oligospermia | MeSH ID:D009845 | OMIM ID:MTHU034825 +BMGC_DS14236,BMG_DS054766,"OMIM ID:613978 | OMIM ID:141800 | UMLS ID:C3279561 | HEMOGLOBIN H DISEASE, NONDELETIONAL | OMIM ID:141850" +BMGC_DS14237,BMG_DS054767,"osteogenesis imperfecta type 6 | MeSH ID:C536047 | MONDO:0013515 | Osteogenesis Imperfecta, Type VI | OMIM ID:613982 | UMLS ID:C3279564" +BMGC_DS14238,BMG_DS054768,"OMIM ID:614009 | bleeding disorder, platelet-type, 13, susceptibility to | UMLS ID:C3279614 | MONDO:0800447" +BMGC_DS14239,BMG_DS054770,MeSH ID:C564215 | hydroxyacyl glutathione hydrolase deficiency | MONDO:0013535 | UMLS ID:C3279657 | OMIM ID:614033 | Glyoxalase II Deficiency +BMGC_DS14240,BMG_DS054771,"MONDO:0013537 | OMIM ID:614035 | OMIM ID:605608 | autosomal recessive nonsyndromic hearing loss 29 | UMLS ID:C3279660 | DEAFNESS, AUTOSOMAL RECESSIVE 29" +BMGC_DS14241,BMG_DS054773,MONDO:0013539 | Leukotriene C4 Synthase Deficiency | MeSH ID:C565439 | OMIM ID:614037 | UMLS ID:C3279662 | hypotonia-failure to thrive-microcephaly syndrome +BMGC_DS14242,BMG_DS054774,Emberger Syndrome | GATA2 Deficiency | MONDO:0013540 | MeSH ID:D000077428 | deafness-lymphedema-leukemia syndrome | DOID:0111947 | immunodeficiency 21 | OMIM ID:614038 | UMLS ID:C3279664 +BMGC_DS14243,BMG_DS054775,OMIM ID:MTHU055355 | UMLS ID:C3279675 | Perisylvian polymicrogyria +BMGC_DS14244,BMG_DS054776,MONDO:0013542 | Moyamoya disease 5 | UMLS ID:C3279690 | OMIM ID:614042 | OMIM ID:102620 | MOYAMOYA DISEASE 5 +BMGC_DS14245,BMG_DS054777,"ATRIAL FIBRILLATION, FAMILIAL, 11 | MONDO:0013544 | OMIM ID:614049 | atrial fibrillation, familial, 11 | OMIM ID:121013 | UMLS ID:C3279693" +BMGC_DS14246,BMG_DS054778,"ATRIAL FIBRILLATION, FAMILIAL, 12 | OMIM ID:601439 | MONDO:0013545 | atrial fibrillation, familial, 12 | UMLS ID:C3279695 | OMIM ID:614050" +BMGC_DS14247,BMG_DS054779,"Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency | UMLS ID:C3279699 | OMIM ID:614052 | mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | MONDO:0013546 | MeSH ID:C567528" +BMGC_DS14248,BMG_DS054780,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 | mitochondrial complex V (ATP synthase) deficiency nuclear type 3 | MONDO:0013547 | UMLS ID:C3279708 | OMIM ID:606153 | DOID:0060332 | OMIM ID:614053" +BMGC_DS14249,BMG_DS054781,N-ACETYLASPARTATE DEFICIENCY | MONDO:0013549 | OMIM ID:610647 | UMLS ID:C3279716 | OMIM ID:614063 | N-acetylaspartate deficiency +BMGC_DS14250,BMG_DS054782,"DOID:0111190 | OMIM ID:102565 | MYOPATHY, DISTAL, 4 | MONDO:0013550 | distal myopathy 4 | OMIM ID:614065 | UMLS ID:C3279722 | distal myopathy with posterior leg and anterior hand involvement" +BMGC_DS14251,BMG_DS054783,"OMIM ID:614066 | UMLS ID:C3279738 | hereditary spastic paraplegia 47 | MONDO:0013551 | DOID:0110799 | SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | OMIM ID:607245" +BMGC_DS14252,BMG_DS054784,"UMLS ID:C3279743 | MONDO:0013552 | SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE | OMIM ID:614067 | hereditary spastic paraplegia 52 | OMIM ID:607243 | DOID:0110804" +BMGC_DS14253,BMG_DS054785,OMIM ID:614064 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 | UMLS ID:C3279748 | immunodeficiency-centromeric instability-facial anomalies syndrome 2 | MONDO:0013553 | OMIM ID:614069 +BMGC_DS14254,BMG_DS054786,"UMLS ID:C3279754 | MONDO:0013554 | OMIM ID:614070 | psoriasis 13, susceptibility to" +BMGC_DS14255,BMG_DS054787,DOID:0060545 | UMLS ID:C3279756 | OMIM ID:614076 | MONDO:0013559 | OMIM ID:607145 | HERMANSKY-PUDLAK SYNDROME 7 | Hermansky-Pudlak syndrome 7 +BMGC_DS14256,BMG_DS054788,"SNOMEDCT ID:782882009 | MONDO:0013561 | Chondrodysplasia with joint dislocations gPAPP type | Chondrodysplasia with joint dislocations gPAPP type (disorder) | OMIM ID:614078 | chondrodysplasia with joint dislocations, gPAPP type | UMLS ID:C3279757" +BMGC_DS14257,BMG_DS054790,"MONDO:0013562 | UMLS ID:C3279774 | OMIM ID:614079 | aspergillosis, susceptibility to" +BMGC_DS14258,BMG_DS054791,UMLS ID:C3279775 | MONDO:0013563 | OMIM ID:614080 | multiple congenital anomalies-hypotonia-seizures syndrome 1 +BMGC_DS14259,BMG_DS054792,OMIM ID:614081 | MONDO:0013564 | anhaptoglobinemia | OMIM ID:140100 | ANHAPTOGLOBINEMIA | UMLS ID:C3279786 +BMGC_DS14260,BMG_DS054793,OMIM ID:614081 | OMIM ID:140100 | UMLS ID:C3279787 | HYPOHAPTOGLOBINEMIA +BMGC_DS14261,BMG_DS054794,Atrial Septal Defect 3 | MeSH ID:C563540 | UMLS ID:C3279790 | OMIM ID:614089 | MONDO:0013567 | atrial septal defect 3 +BMGC_DS14262,BMG_DS054795,"OMIM ID:614090 | UMLS ID:C3279791 | sick sinus syndrome 3, susceptibility to | MONDO:0013568" +BMGC_DS14263,BMG_DS054796,OMIM ID:614091 | UMLS ID:C3279792 | SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | MONDO:0013569 | short-rib thoracic dysplasia 7 with or without polydactyly +BMGC_DS14264,BMG_DS054797,"UMLS ID:C3279800 | MONDO:0013572 | OMIM ID:614098 | Keppen Lubinsky syndrome | SNOMEDCT ID:1220589007 | Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome | Generalised lipodystrophy, progeroid features, severe intellectual disability syndrome | Keppen-Lubinsky syndrome | Keppen Lubinsky syndrome (disorder)" +BMGC_DS14265,BMG_DS054798,CRANIOECTODERMAL DYSPLASIA 3 | DOID:0080805 | OMIM ID:614099 | OMIM ID:614068 | UMLS ID:C3279807 | MONDO:0013573 | cranioectodermal dysplasia 3 +BMGC_DS14266,BMG_DS054799,UMLS ID:C3279824 | MONDO:0013576 | MeSH ID:C564131 | OMIM ID:614102 | recurrent infections associated with rare immunoglobulin isotypes deficiency | Kappa-Chain Deficiency +BMGC_DS14267,BMG_DS054800,MeSH ID:C566402 | MONDO:0013579 | UMLS ID:C3279840 | OMIM ID:614105 | Methylmalonate Semialdehyde Dehydrogenase Deficiency | methylmalonate semialdehyde dehydrogenase deficiency +BMGC_DS14268,BMG_DS054801,UMLS ID:C3279841 | OMIM ID:614111 | MONDO:0013580 | Pyruvate Dehydrogenase E1-Beta Deficiency | pyruvate dehydrogenase E1-beta deficiency | MeSH ID:C566729 +BMGC_DS14269,BMG_DS054802,"UMLS ID:C3279842 | OMIM ID:614113 | MONDO:0013581 | intellectual disability, autosomal dominant 2" +BMGC_DS14270,BMG_DS054803,OMIM ID:614114 | UMLS ID:C3279843 | mosaic variegated aneuploidy syndrome 2 | MONDO:0013582 +BMGC_DS14271,BMG_DS054804,"OMIM ID:604349 | OMIM ID:614115 | occipital pachygyria and polymicrogyria | CORTICAL MALFORMATIONS, OCCIPITAL | MONDO:0013583 | UMLS ID:C3279875" +BMGC_DS14272,BMG_DS054806,MONDO:0013584 | Hereditary Sensory and Autonomic Neuropathy Type Ie | OMIM ID:614116 | hereditary sensory neuropathy-deafness-dementia syndrome | UMLS ID:C3279885 | MeSH ID:C580162 +BMGC_DS14273,BMG_DS054807,MONDO:0013585 | hydrolethalus syndrome 2 | UMLS ID:C3279899 | OMIM ID:614120 +BMGC_DS14274,BMG_DS054808,UMLS ID:C3279902 | OMIM ID:600031 | CHITOTRIOSIDASE DEFICIENCY | OMIM ID:614122 +BMGC_DS14275,BMG_DS054809,MeSH ID:C563641 | UMLS ID:C3279904 | Lactate Dehydrogenase B Deficiency | MONDO:0013587 | glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | OMIM ID:614128 +BMGC_DS14276,BMG_DS054810,OMIM ID:614131 | OMIM ID:601479 | MONDO:0013589 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 | UMLS ID:C3279905 | focal segmental glomerulosclerosis 6 +BMGC_DS14277,BMG_DS054811,"OMIM ID:614134 | OMIM ID:120210 | Stickler syndrome, type 4 | UMLS ID:C3279941 | STICKLER SYNDROME, TYPE IV | MONDO:0013590" +BMGC_DS14278,BMG_DS054812,"MONDO:0013592 | DOID:0080087 | nonsyndromic congenital nail disorder 9 | UMLS ID:C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | OMIM ID:614149" +BMGC_DS14279,BMG_DS054813,"MONDO:0013593 | OMIM ID:614152 | autosomal dominant nonsyndromic hearing loss 64 | DEAFNESS, AUTOSOMAL DOMINANT 64 | OMIM ID:605219 | UMLS ID:C3279948" +BMGC_DS14280,BMG_DS054814,Hyperbiliverdinemia (disorder) | SNOMEDCT ID:771441005 | OMIM ID:614156 | Hyperbiliverdinaemia | Hyperbiliverdinemia | MONDO:0013595 | hyperbiliverdinemia | UMLS ID:C3279964 +BMGC_DS14281,BMG_DS054815,"CANDIDIASIS, FAMILIAL, 7 | MONDO:0013599 | OMIM ID:614162 | DOID:0111946 | autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | immunodeficiency 31C | UMLS ID:C3279990" +BMGC_DS14282,BMG_DS054816,"delayed sleep phase syndrome, susceptibility to | OMIM ID:614163 | MONDO:0800001 | UMLS ID:C3279991" +BMGC_DS14283,BMG_DS054817,UMLS ID:C3279992 | paragangliomas 5 | OMIM ID:614165 | MONDO:0013602 | PARAGANGLIOMAS 5 +BMGC_DS14284,BMG_DS054819,"OMIM ID:614159 | OMIM ID:614167 | myopia 21, autosomal dominant | UMLS ID:C3279997 | MYOPIA 21, AUTOSOMAL DOMINANT | MONDO:0013604" +BMGC_DS14285,BMG_DS054820,BRITTLE CORNEA SYNDROME 2 | DOID:0080729 | UMLS ID:C3280011 | brittle cornea syndrome 2 | OMIM ID:614161 | MONDO:0013605 | OMIM ID:614170 +BMGC_DS14286,BMG_DS054821,DOID:0060930 | Developmental Dysplasia of the Hip | MeSH ID:D000082602 | UMLS ID:C3280020 | developmental dysplasia of the hip +BMGC_DS14287,BMG_DS054822,HERMANSKY-PUDLAK SYNDROME 9 | UMLS ID:C3280026 | OMIM ID:604310 | Hermansky-Pudlak syndrome 9 | DOID:0060547 | OMIM ID:614171 | MONDO:0013606 +BMGC_DS14288,BMG_DS054823,OMIM ID:614172 | GATA2 Deficiency | MONDO:0013607 | MeSH ID:D000077428 | DOID:0111947 | immunodeficiency 21 | UMLS ID:C3280030 | monocytopenia with susceptibility to infections +BMGC_DS14289,BMG_DS054824,DOID:0110982 | MONDO:0013608 | OMIM ID:609863 | Joubert syndrome 13 | JOUBERT SYNDROME 13 | UMLS ID:C3280031 | OMIM ID:614173 +BMGC_DS14290,BMG_DS054825,"UMLS ID:C3280036 | OMIM ID:611951 | MECKEL SYNDROME, TYPE 10 | Meckel syndrome, type 10 | OMIM ID:614175 | MONDO:0013609" +BMGC_DS14291,BMG_DS054826,UMLS ID:C3280041 | MONDO:0013610 | RETINITIS PIGMENTOSA 61 | retinitis pigmentosa 61 | OMIM ID:606397 | OMIM ID:614180 +BMGC_DS14292,BMG_DS054827,UMLS ID:C3280042 | OMIM ID:614181 | MONDO:0013611 | retinitis pigmentosa 62 | OMIM ID:154235 | RETINITIS PIGMENTOSA 62 +BMGC_DS14293,BMG_DS054828,geleophysic dysplasia 2 | DOID:0111726 | UMLS ID:C3280054 | OMIM ID:134797 | OMIM ID:614185 | GELEOPHYSIC DYSPLASIA 2 | MONDO:0013612 +BMGC_DS14294,BMG_DS054829,LEBER CONGENITAL AMAUROSIS 16 | OMIM ID:614186 | Leber congenital amaurosis 16 | MONDO:0013613 | UMLS ID:C3280062 | OMIM ID:603208 +BMGC_DS14295,BMG_DS054830,MONDO:0013615 | craniosynostosis and dental anomalies | OMIM ID:600939 | UMLS ID:C3280073 | CRANIOSYNOSTOSIS AND DENTAL ANOMALIES | OMIM ID:614188 +BMGC_DS14296,BMG_DS054831,"OMIM ID:614190 | UMLS ID:C3280094 | primary pigmented nodular adrenocortical disease 3 | OMIM ID:603390 | MONDO:0013616 | pigmented nodular adrenocortical disease, primary, 3 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 | DOID:0070548" +BMGC_DS14297,BMG_DS054832,OMIM ID:614195 | OMIM ID:605020 | MONDO:0013618 | CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME | UMLS ID:C3280099 | craniofacial anomalies and anterior segment dysgenesis syndrome +BMGC_DS14298,BMG_DS054833,"nephrotic syndrome type 6 | OMIM ID:614196 | DOID:0080384 | OMIM ID:600579 | NEPHROTIC SYNDROME, TYPE 6 | nephrotic syndrome, type 6 | MONDO:0013619 | UMLS ID:C3280100" +BMGC_DS14299,BMG_DS054834,"congenital myasthenic syndrome 16 | UMLS ID:C3280112 | MYASTHENIC SYNDROME, CONGENITAL, 16 | OMIM ID:614198 | OMIM ID:603967 | MONDO:0013620 | DOID:0110682" +BMGC_DS14300,BMG_DS054835,"nephrotic syndrome type 5 | UMLS ID:C3280113 | LAMB2-related infantile-onset nephrotic syndrome | NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES | DOID:0080380 | OMIM ID:249660 | OMIM ID:614199 | MONDO:0013621" +BMGC_DS14301,BMG_DS054836,MONDO:0013622 | MeSH ID:C566000 | Glycoprotein IA Deficiency | OMIM ID:614200 | platelet-type bleeding disorder 9 | UMLS ID:C3280114 +BMGC_DS14302,BMG_DS054837,Glycoprotein VI deficiency | Bleeding disorder due to glycoprotein VI deficiency (disorder) | Bleeding disorder platelet-type 11 | OMIM ID:614201 | SNOMEDCT ID:765977002 | Bleeding disorder due to glycoprotein VI deficiency | platelet-type bleeding disorder 11 | UMLS ID:C3280120 | MONDO:0013623 +BMGC_DS14303,BMG_DS054838,MONDO:0013624 | UMLS ID:C3280127 | Rafiq syndrome | RAFIQ SYNDROME | OMIM ID:614202 | OMIM ID:604346 | DOID:0081097 +BMGC_DS14304,BMG_DS054839,Parkinson disease 17 | UMLS ID:C3280133 | OMIM ID:601501 | DOID:0060897 | MONDO:0013625 | OMIM ID:614203 | Parkinson's disease 17 | PARKINSON DISEASE 17 +BMGC_DS14305,BMG_DS054840,3M syndrome 3 | MONDO:0013627 | 3-M syndrome | THREE M SYNDROME 3 | OMIM ID:614145 | UMLS ID:C3280146 | OMIM ID:614205 | DOID:0060241 +BMGC_DS14306,BMG_DS054841,hyperphosphatasia with intellectual disability syndrome 3 | HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 | hyperphosphatasia with impaired intellectual development syndrome 3 | UMLS ID:C3280153 | DOID:0070435 | MONDO:0013628 | OMIM ID:615187 | OMIM ID:614207 +BMGC_DS14307,BMG_DS054842,"MONDO:0013629 | UMLS ID:C3280154 | OMIM ID:614208 | intellectual disability, autosomal recessive 16" +BMGC_DS14308,BMG_DS054843,"OMIM ID:614144 | Meckel syndrome, type 9 | UMLS ID:C3280155 | OMIM ID:614209 | MONDO:0013630 | MECKEL SYNDROME, TYPE 9" +BMGC_DS14309,BMG_DS054845,"encephalopathy, acute, infection-induced, susceptibility to, 4 | MONDO:0013633 | OMIM ID:614212 | UMLS ID:C3280160" +BMGC_DS14310,BMG_DS054846,"hereditary sensory neuropathy type 2C | MONDO:0013634 | neuropathy, hereditary sensory, type 2C | UMLS ID:C3280168 | DOID:0070147 | OMIM ID:601255 | NEUROPATHY, HEREDITARY SENSORY, TYPE IIC | OMIM ID:614213" +BMGC_DS14311,BMG_DS054847,ADAMS-OLIVER SYNDROME 2 | OMIM ID:614194 | UMLS ID:C3280182 | Adams-Oliver syndrome 2 | OMIM ID:614219 | MONDO:0013635 +BMGC_DS14312,BMG_DS054848,"primary biliary cholangitis 4 | DOID:0070361 | OMIM ID:614220 | MONDO:0013636 | BILIARY CIRRHOSIS, PRIMARY, 4 | UMLS ID:C3280201" +BMGC_DS14313,BMG_DS054849,"MONDO:0013637 | OMIM ID:614221 | DOID:0070362 | primary biliary cholangitis 5 | UMLS ID:C3280202 | BILIARY CIRRHOSIS, PRIMARY, 5" +BMGC_DS14314,BMG_DS054850,UMLS ID:C3280203 | MONDO:0013638 | Warburg micro syndrome 3 | OMIM ID:614222 | OMIM ID:602207 | WARBURG MICRO SYNDROME 3 +BMGC_DS14315,BMG_DS054852,UMLS ID:C3280205 | OMIM ID:614224 | RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS | MONDO:0013640 | familial retinal arterial macroaneurysm +BMGC_DS14316,BMG_DS054854,WARBURG MICRO SYNDROME 2 | OMIM ID:609275 | UMLS ID:C3280214 | MONDO:0013641 | OMIM ID:614225 | Warburg micro syndrome 2 +BMGC_DS14317,BMG_DS054855,HOLOPROSENCEPHALY 11 | OMIM ID:614226 | DOID:0110877 | OMIM ID:608707 | MONDO:0013642 | holoprosencephaly 11 | UMLS ID:C3280215 +BMGC_DS14318,BMG_DS054856,"hyperuricemic nephropathy, familial juvenile type 3 | OMIM ID:614227 | MONDO:0013643 | HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 | UMLS ID:C3280216" +BMGC_DS14319,BMG_DS054857,"OMIM ID:614228 | OMIM ID:600112 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O | UMLS ID:C3280220 | Charcot-Marie-Tooth disease axonal type 2O | MONDO:0013644" +BMGC_DS14320,BMG_DS054858,UMLS ID:C3280231 | chromosome 8q21.11 deletion syndrome | CHROMOSOME 8q21.11 DELETION SYNDROME | MONDO:0013646 | OMIM ID:614230 +BMGC_DS14321,BMG_DS054859,"MONDO:0100328 | OMIM ID:609382 | OMIM ID:614231 | UMLS ID:C3280240 | microcephaly, epilepsy, and diabetes syndrome | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 1" +BMGC_DS14322,BMG_DS054860,HYPOTRICHOSIS 9 | hypotrichosis 9 | OMIM ID:614237 | UMLS ID:C3280252 | DOID:0110706 | MONDO:0013649 +BMGC_DS14323,BMG_DS054861,MONDO:0013650 | OMIM ID:614238 | HYPOTRICHOSIS 10 | UMLS ID:C3280253 | DOID:0110707 | hypotrichosis 10 +BMGC_DS14324,BMG_DS054862,"intellectual disability, autosomal recessive 18 | UMLS ID:C3280265 | OMIM ID:614249 | MONDO:0013651" +BMGC_DS14325,BMG_DS054863,NARCOLEPSY 7 | OMIM ID:614250 | MONDO:0013652 | OMIM ID:159465 | UMLS ID:C3280266 | narcolepsy 7 +BMGC_DS14326,BMG_DS054864,"OMIM ID:614251 | UMLS ID:C3280271 | MONDO:0013653 | Parkinson disease 18, autosomal dominant, susceptibility to" +BMGC_DS14327,BMG_DS054865,"DOID:0080974 | MONDO:0013654 | OMIM ID:614252 | ANEURYSM, INTRACRANIAL BERRY, 11 | intracranial berry aneurysm 11 | aneurysm, intracranial berry, 11 | UMLS ID:C3280275" +BMGC_DS14328,BMG_DS054866,"intellectual disability, autosomal dominant 8 | MONDO:0013655 | DOID:0070038 | UMLS ID:C3280282 | OMIM ID:614254 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT | autosomal dominant intellectual developmental disorder 8" +BMGC_DS14329,BMG_DS054867,DOID:0070039 | UMLS ID:C3280283 | NESCAV syndrome +BMGC_DS14330,BMG_DS054868,"OMIM ID:614256 | intellectual disability, autosomal dominant 10 | UMLS ID:C3280284 | MONDO:0013657" +BMGC_DS14331,BMG_DS054869,"UMLS ID:C3280285 | intellectual disability, autosomal dominant 11 | CHROMOSOME 20q11-q12 DELETION SYNDROME | OMIM ID:614257 | autosomal dominant intellectual developmental disorder 11 | MONDO:0013658 | DOID:0070041" +BMGC_DS14332,BMG_DS054870,Microcephaly-capillary malformation syndrome (disorder) | MONDO:0013659 | OMIM ID:614261 | UMLS ID:C3280296 | Microcephaly-capillary malformation syndrome | microcephaly-capillary malformation syndrome | SNOMEDCT ID:703369003 +BMGC_DS14333,BMG_DS054871,"ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY | MONDO:0013660 | UMLS ID:C3280309 | arthrogryposis, Perthes disease, and upward gaze palsy | OMIM ID:614262 | OMIM ID:609798" +BMGC_DS14334,BMG_DS054872,DOID:0111263 | MeSH ID:C580002 | MONDO:0013661 | combined malonic and methylmalonic acidemia | OMIM ID:614265 | UMLS ID:C3280314 | Combined Malonic and Methylmalonic Aciduria +BMGC_DS14335,BMG_DS054873,OMIM ID:614278 | MeSH ID:C566640 | platelet-activating factor acetylhydrolase deficiency | Platelet-Activating Factor Acetylhydrolase Deficiency | UMLS ID:C3280315 | MONDO:0013663 +BMGC_DS14336,BMG_DS054874,"MONDO:0013665 | UMLS ID:C3280332 | epilepsy, juvenile myoclonic, susceptibility to, 9 | OMIM ID:614280" +BMGC_DS14337,BMG_DS054875,"OMIM ID:614284 | Stickler syndrome, type 5 | MONDO:0013666 | UMLS ID:C3280342 | STICKLER SYNDROME, TYPE V" +BMGC_DS14338,BMG_DS054876,"OMIM ID:614291 | MONDO:0013669 | UMLS ID:C3280345 | breast-ovarian cancer, familial, susceptibility to, 4" +BMGC_DS14339,BMG_DS054877,"MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION | myopia, high, with cataract and vitreoretinal degeneration | MONDO:0013670 | OMIM ID:614292 | UMLS ID:C3280346 | OMIM ID:610341" +BMGC_DS14340,BMG_DS054878,"OMIM ID:611687 | UMLS ID:C3280352 | HYDATIDIFORM MOLE, RECURRENT, 2 | MONDO:0013671 | hydatidiform mole, recurrent, 2 | OMIM ID:614293" +BMGC_DS14341,BMG_DS054879,CHROMOSOME 15q25 DELETION SYNDROME | OMIM ID:614294 | UMLS ID:C3280355 | MONDO:0013672 | chromosome 15q25 deletion syndrome | DOID:0060396 +BMGC_DS14342,BMG_DS054880,"MONDO:0013673 | OMIM ID:614296 | Wolfram-like syndrome | MeSH ID:C565631 | UMLS ID:C3280358 | Wolfram-Like Syndrome, Autosomal Dominant" +BMGC_DS14343,BMG_DS054881,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 | UMLS ID:C3280371 | neurodegeneration with brain iron accumulation 4 | OMIM ID:614298 | MONDO:0013674 +BMGC_DS14344,BMG_DS054882,UMLS ID:C3280378 | Multiple mitochondrial dysfunctions syndrome type 2 | SNOMEDCT ID:1208486005 | multiple mitochondrial dysfunctions syndrome 2 | MMDS2 - multiple mitochondrial dysfunctions syndrome type 2 | OMIM ID:614299 | Multiple mitochondrial dysfunctions syndrome type 2 (disorder) | BOLA3 (bolA family member 3) deficiency | MONDO:0013675 +BMGC_DS14345,BMG_DS054883,"Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome | Autosomal dominant keratoconus with early-onset anterior polar cataract | EDICT syndrome | Familial keratoconus with cataract | OMIM ID:614303 | MONDO:0013678 | EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome | Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | UMLS ID:C3280392 | SNOMEDCT ID:722439009" +BMGC_DS14346,BMG_DS054885,SCLEROSTEOSIS 2 | OMIM ID:604270 | OMIM ID:614305 | sclerosteosis 2 | UMLS ID:C3280402 | MONDO:0013679 +BMGC_DS14347,BMG_DS054886,COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA | OMIM ID:600702 | UMLS ID:C3280415 | MONDO:0013680 | OMIM ID:614306 | cognitive impairment with or without cerebellar ataxia +BMGC_DS14348,BMG_DS054887,MeSH ID:C565768 | MONDO:0013681 | alpha-methylacyl-CoA racemase deficiency | Alpha-Methylacyl-CoA Racemase Deficiency | DOID:0060602 | OMIM ID:614307 | UMLS ID:C3280428 +BMGC_DS14349,BMG_DS054891,"OMIM ID:614320 | UMLS ID:C3280442 | MONDO:0013685 | pancreatic cancer, susceptibility to, 4" +BMGC_DS14350,BMG_DS054892,"distal myopathy, Tateyama type | MONDO:0013686 | DOID:0111191 | OMIM ID:601253 | OMIM ID:614321 | UMLS ID:C3280443 | MYOPATHY, DISTAL, TATEYAMA TYPE | distal myopathy Tateyama type" +BMGC_DS14351,BMG_DS054893,"UMLS ID:C3280452 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 | DOID:0080060 | MONDO:0013687 | OMIM ID:605131 | OMIM ID:614322 | autosomal recessive spinocerebellar ataxia 12" +BMGC_DS14352,BMG_DS054894,OMIM ID:614324 | ovarian dysgenesis 3 | MONDO:0013689 | OMIM ID:608665 | DOID:0080495 | OVARIAN DYSGENESIS 3 | UMLS ID:C3280471 +BMGC_DS14353,BMG_DS054895,PITT-HOPKINS-LIKE SYNDROME 2 | MONDO:0013690 | UMLS ID:C3280479 | OMIM ID:600565 | OMIM ID:614325 | DOID:0111332 | Pitt-Hopkins-like syndrome 2 +BMGC_DS14354,BMG_DS054896,Feingold syndrome type 2 | UMLS ID:C3280489 | FEINGOLD SYNDROME 2 | OMIM ID:614326 | MONDO:0013691 +BMGC_DS14355,BMG_DS054897,OMIM ID:603089 | OMIM ID:614327 | TUMOR PREDISPOSITION SYNDROME 1 | BAP1-related tumor predisposition syndrome | UMLS ID:C3280492 | MONDO:0013692 +BMGC_DS14356,BMG_DS054898,"INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 | MONDO:0013693 | UMLS ID:C3280501 | OMIM ID:603639 | OMIM ID:614328 | inflammatory skin and bowel disease, neonatal, 1" +BMGC_DS14357,BMG_DS054899,"OMIM ID:614329 | MONDO:0013694 | intellectual disability, autosomal recessive 31 | UMLS ID:C3280523" +BMGC_DS14358,BMG_DS054900,SCHIZOPHRENIA 17 | UMLS ID:C3280524 | schizophrenia 17 | OMIM ID:614332 | MONDO:0800358 +BMGC_DS14359,BMG_DS054901,"UMLS ID:C3280525 | OMIM ID:614333 | MONDO:0013697 | intellectual disability, autosomal recessive 29" +BMGC_DS14360,BMG_DS054902,"arthrogryposis, distal, type 1B | OMIM ID:160794 | OMIM ID:614335 | MONDO:0013698 | UMLS ID:C3280526 | distal arthrogryposis type 1B | DOID:0111598 | ARTHROGRYPOSIS, DISTAL, TYPE 1B" +BMGC_DS14361,BMG_DS054903,MONDO:0013700 | OMIM ID:614338 | UMLS ID:C3280527 | pancreatic triacylglycerol lipase deficiency +BMGC_DS14362,BMG_DS054904,"OMIM ID:614338 | COLIPASE, CONGENITAL ABSENCE OF PANCREATIC | UMLS ID:C3280528" +BMGC_DS14363,BMG_DS054905,"UMLS ID:C3280529 | OMIM ID:614338 | LIPASE AND COLIPASE, DEFICIENCY OF" +BMGC_DS14364,BMG_DS054906,"LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC | UMLS ID:C3280530 | OMIM ID:614338" +BMGC_DS14365,BMG_DS054907,"OMIM ID:614340 | DOID:0081193 | autosomal recessive intellectual developmental disorder 27 | UMLS ID:C3280538 | OMIM ID:610350 | MONDO:0013702 | intellectual disability, autosomal recessive 27 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27" +BMGC_DS14366,BMG_DS054908,"UMLS ID:C3280539 | intellectual disability, autosomal recessive 33 | OMIM ID:614341 | MONDO:0013703" +BMGC_DS14367,BMG_DS054909,"OMIM ID:614342 | UMLS ID:C3280540 | intellectual disability, autosomal recessive 30 | MONDO:0013704" +BMGC_DS14368,BMG_DS054910,"intellectual disability, autosomal recessive 19 | MONDO:0013705 | UMLS ID:C3280541 | OMIM ID:614343" +BMGC_DS14369,BMG_DS054911,"OMIM ID:614344 | MONDO:0013706 | UMLS ID:C3280542 | intellectual disability, autosomal recessive 23" +BMGC_DS14370,BMG_DS054912,"OMIM ID:614345 | intellectual disability, autosomal recessive 24 | UMLS ID:C3280543 | MONDO:0013707" +BMGC_DS14371,BMG_DS054913,"OMIM ID:614346 | intellectual disability, autosomal recessive 25 | MONDO:0013708 | UMLS ID:C3280544" +BMGC_DS14372,BMG_DS054914,"OMIM ID:614347 | UMLS ID:C3280545 | intellectual disability, autosomal recessive 28 | MONDO:0013709" +BMGC_DS14373,BMG_DS054915,"OMIM ID:608568 | UMLS ID:C3280556 | peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | OMIM ID:614369 | MONDO:0013711 | PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS" +BMGC_DS14374,BMG_DS054916,"surfactant metabolism dysfunction, pulmonary, 5 | MONDO:0013712 | OMIM ID:614370 | OMIM ID:138981 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 | UMLS ID:C3280574" +BMGC_DS14375,BMG_DS054917,"OMIM ID:614371 | MONDO:0013713 | dengue virus, susceptibility to | UMLS ID:C3280582" +BMGC_DS14376,BMG_DS054920,mannose-binding lectin deficiency | OMIM ID:614372 | MeSH ID:C563602 | Mannose-Binding Protein Deficiency | UMLS ID:C3280586 | MONDO:0013714 +BMGC_DS14377,BMG_DS054921,"MONDO:0013715 | OMIM ID:614373 | AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE | DOID:0060207 | OMIM ID:601978 | UMLS ID:C3280587 | amyotrophic lateral sclerosis type 16" +BMGC_DS14378,BMG_DS054923,SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY | OMIM ID:614376 | UMLS ID:C3280598 | MONDO:0013717 | asphyxiating thoracic dystrophy 5 +BMGC_DS14379,BMG_DS054924,nephronophthisis 13 | MONDO:0013718 | DOID:0111121 | NEPHRONOPHTHISIS 13 | UMLS ID:C3280612 | OMIM ID:608151 | OMIM ID:614377 +BMGC_DS14380,BMG_DS054925,CRANIOECTODERMAL DYSPLASIA 4 | UMLS ID:C3280616 | OMIM ID:614378 | OMIM ID:608151 | cranioectodermal dysplasia 4 | MONDO:0013719 | DOID:0080806 +BMGC_DS14381,BMG_DS054929,complement component 4b deficiency | UMLS ID:C3280641 | OMIM ID:614379 | MONDO:0013720 +BMGC_DS14382,BMG_DS054930,OMIM ID:614380 | complement component 4a deficiency | MONDO:0013721 | UMLS ID:C3280642 +BMGC_DS14383,BMG_DS054931,"UMLS ID:C3280644 | hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | OMIM ID:213002 | OMIM ID:614381 | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM | MONDO:0013722" +BMGC_DS14384,BMG_DS054932,"bacteremia, susceptibility to, 1 | MONDO:0013723 | OMIM ID:614382 | UMLS ID:C3280645" +BMGC_DS14385,BMG_DS054933,"UMLS ID:C3280646 | bacteremia, susceptibility | MONDO:0000108" +BMGC_DS14386,BMG_DS054934,"MONDO:0013724 | bacteremia, susceptibility to, 2 | UMLS ID:C3280647 | OMIM ID:614383" +BMGC_DS14387,BMG_DS054935,"ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 | DOID:0070347 | OMIM ID:614388 | OMIM ID:603850 | encephalopathy due to defective mitochondrial and peroxisomal fission 1 | UMLS ID:C3280660 | MONDO:0013726 | encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" +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 | MONDO:0013728 | OMIM ID:614390 | pregnancy loss, recurrent, susceptibility to, 2" +BMGC_DS14390,BMG_DS054938,"MONDO:0013729 | UMLS ID:C3280674 | pregnancy loss, recurrent, susceptibility to, 3 | OMIM ID:614391" +BMGC_DS14391,BMG_DS054939,"UMLS ID:C3280677 | MONDO:0100048 | OMIM ID:614395 | graft-versus-host disease, susceptibility to" +BMGC_DS14392,BMG_DS054940,"MONDO:0013731 | EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome | OMIM ID:614399 | SNOMEDCT ID:1236844002 | MEGF10-related myopathy | Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome | Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | UMLS ID:C3280679" +BMGC_DS14393,BMG_DS054941,"MONDO:0013732 | UMLS ID:C3280689 | OMIM ID:614400 | glucocorticoid therapy, response to" +BMGC_DS14394,BMG_DS054942,"Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome | SNOMEDCT ID:764732004 | Zaki Gleeson syndrome | OMIM ID:614407 | UMLS ID:C3280692 | Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) | Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome | microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | MONDO:0013735" +BMGC_DS14395,BMG_DS054943,UMLS ID:C3280721 | OMIM ID:614415 | chilblain lupus 2 | CHILBLAIN LUPUS 2 | MONDO:0013739 | OMIM ID:606754 +BMGC_DS14396,BMG_DS054945,lethal occipital encephalocele-skeletal dysplasia syndrome | RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES | OMIM ID:614416 | UMLS ID:C3280729 | OMIM ID:605207 | MONDO:0013740 +BMGC_DS14397,BMG_DS054946,"OMIM ID:614417 | OMIM ID:609562 | UMLS ID:C3280730 | DOID:0060752 | MONDO:0013741 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 | familial temporal lobe epilepsy 5" +BMGC_DS14398,BMG_DS054947,"DOID:0111308 | OMIM ID:609562 | UMLS ID:C3280734 | febrile seizures, familial, 11 | OMIM ID:614418 | FEBRILE SEIZURES, FAMILIAL, 11 | MONDO:0024566 | familial febrile seizures 11" +BMGC_DS14399,BMG_DS054948,MONDO:0013743 | OMIM ID:602244 | SYSTEMIC LUPUS ERYTHEMATOSUS 16 | OMIM ID:614420 | UMLS ID:C3280742 | autosomal systemic lupus erythematosus type 16 +BMGC_DS14400,BMG_DS054950,OMIM ID:614422 | UMLS ID:C3280758 | MONDO:0013744 | cataract 37 | CATARACT 37 +BMGC_DS14401,BMG_DS054951,OMIM ID:614424 | DOID:0110983 | JOUBERT SYNDROME 14 | UMLS ID:C3280766 | MONDO:0013745 | OMIM ID:614423 | Joubert syndrome 14 +BMGC_DS14402,BMG_DS054952,UMLS ID:C3280777 | OMIM ID:614429 | OMIM ID:600576 | VENTRICULAR SEPTAL DEFECT 1 | ventricular septal defect 1 | MONDO:0013746 +BMGC_DS14403,BMG_DS054954,UMLS ID:C3280781 | ATRIOVENTRICULAR SEPTAL DEFECT 4 | atrioventricular septal defect 4 | OMIM ID:614430 | MONDO:0013747 | OMIM ID:600576 +BMGC_DS14404,BMG_DS054956,OMIM ID:614431 | UMLS ID:C3280783 | ventricular septal defect 2 | MONDO:0013748 +BMGC_DS14405,BMG_DS054957,OMIM ID:600584 | MONDO:0013749 | UMLS ID:C3280785 | OMIM ID:614432 | VENTRICULAR SEPTAL DEFECT 3 | ventricular septal defect 3 +BMGC_DS14406,BMG_DS054959,OMIM ID:614433 | UMLS ID:C3280790 | MONDO:0013750 | atrial septal defect 8 +BMGC_DS14407,BMG_DS054961,"cutis laxa, autosomal dominant 2 | OMIM ID:604580 | CUTIS LAXA, AUTOSOMAL DOMINANT 2 | UMLS ID:C3280794 | OMIM ID:614434 | MONDO:0013751" +BMGC_DS14408,BMG_DS054962,HYPOPLASTIC LEFT HEART SYNDROME 2 | OMIM ID:600584 | hypoplastic left heart syndrome 2 | MONDO:0013752 | UMLS ID:C3280795 | OMIM ID:614435 +BMGC_DS14409,BMG_DS054963,"OMIM ID:608591 | UMLS ID:C3280797 | Charcot-Marie-Tooth disease axonal type 2P | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P | OMIM ID:610933 | OMIM ID:614436 | MONDO:0013753" +BMGC_DS14410,BMG_DS054964,"cutis laxa, autosomal recessive, type 1B | MONDO:0013754 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | OMIM ID:614437 | UMLS ID:C3280798 | OMIM ID:604633" +BMGC_DS14411,BMG_DS054965,Autosomal recessive cutis laxa type IIIb | PYCR1-related de Barsy syndrome | MONDO:0013755 | OMIM ID:614438 | Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome | UMLS ID:C3280799 | Disorder due to pyrroline-5-carboxylate reductase 1 deficiency | SNOMEDCT ID:1295488006 | Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome (disorder) +BMGC_DS14412,BMG_DS054966,"OMIM ID:614441 | MONDO:0013756 | UMLS ID:C3280800 | hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2" +BMGC_DS14413,BMG_DS054967,"OMIM ID:190120 | MONDO:0013757 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 | OMIM ID:614450 | UMLS ID:C3280817 | congenital nongoitrous hypothyroidism 6" +BMGC_DS14414,BMG_DS054968,"SNOMEDCT ID:1208936008 | ELOVL4-related neuro ichthyosis | Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome | MONDO:0013760 | congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | OMIM ID:614457 | UMLS ID:C3280856 | Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) | ELOVL4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis" +BMGC_DS14415,BMG_DS054969,THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) | OMIM ID:614458 | UMLS ID:C3280866 | childhood encephalopathy due to thiamine pyrophosphokinase deficiency | OMIM ID:606370 | MONDO:0013761 +BMGC_DS14416,BMG_DS054970,"MONDO:0013762 | HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | lipoic acid synthetase deficiency | OMIM ID:607031 | OMIM ID:614462 | UMLS ID:C3280887" +BMGC_DS14417,BMG_DS054971,JOUBERT SYNDROME 15 | MONDO:0013763 | OMIM ID:610523 | Joubert syndrome 15 | OMIM ID:614464 | UMLS ID:C3280897 | DOID:0110984 +BMGC_DS14418,BMG_DS054972,"OMIM ID:612285 | UMLS ID:C3280898 | JOUBERT SYNDROME 9/15, DIGENIC | OMIM ID:610523 | Joubert syndrome 15 | OMIM ID:614464 | OMIM ID:612013 | DOID:0110984" +BMGC_DS14419,BMG_DS054973,"JOUBERT SYNDROME 12/15, DIGENIC | UMLS ID:C3280899 | OMIM ID:611254 | OMIM ID:610523 | Joubert syndrome 15 | OMIM ID:614464 | DOID:0110984 | OMIM ID:200990" +BMGC_DS14420,BMG_DS054974,MONDO:0013764 | JOUBERT SYNDROME 16 | DOID:0110985 | OMIM ID:614459 | OMIM ID:614465 | Joubert syndrome 16 | UMLS ID:C3280906 +BMGC_DS14421,BMG_DS054975,"MONDO:0013765 | OMIM ID:614466 | coronary heart disease, susceptibility to, 6 | UMLS ID:C3280913" +BMGC_DS14422,BMG_DS054976,familial cold autoinflammatory syndrome 3 | OMIM ID:614468 | UMLS ID:C3280914 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 | MONDO:0013766 | OMIM ID:600220 +BMGC_DS14423,BMG_DS054977,MONDO:0013769 | OMIM ID:614474 | UMLS ID:C3280939 | OMIM ID:601656 | ATRIOVENTRICULAR SEPTAL DEFECT 5 | atrioventricular septal defect 5 +BMGC_DS14424,BMG_DS054978,atrial septal defect 9 | ATRIAL SEPTAL DEFECT 9 | OMIM ID:614475 | OMIM ID:601656 | UMLS ID:C3280943 | MONDO:0013770 +BMGC_DS14425,BMG_DS054979,"OMIM ID:138420 | MONDO:0013771 | HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE | OMIM ID:614480 | UMLS ID:C3280953 | transient infantile hypertriglyceridemia and hepatosteatosis" +BMGC_DS14426,BMG_DS054980,DOID:0112314 | brain small vessel disease 2 | porencephaly 2 | OMIM ID:120090 | BRAIN SMALL VESSEL DISEASE 2 | UMLS ID:C3280970 | OMIM ID:614483 | MONDO:0013773 +BMGC_DS14427,BMG_DS054981,MONDO:0013774 | trigonocephaly 2 | OMIM ID:614485 | UMLS ID:C3280974 +BMGC_DS14428,BMG_DS054982,Thrombophilia due to Thrombomodulin Defect | DOID:0111908 | OMIM ID:614486 | thrombomodulin-related bleeding disorder | UMLS ID:C3280976 | MONDO:0013775 | MeSH ID:C566057 | thrombophilia due to thrombomodulin defect +BMGC_DS14429,BMG_DS054983,"OMIM ID:604581 | MONDO:0013776 | spastic ataxia 5 | SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE | UMLS ID:C3280977 | DOID:0050944 | OMIM ID:614487" +BMGC_DS14430,BMG_DS054985,OMIM ID:277970 | UMLS ID:C3281001 | OMIM ID:602357 | WISKOTT-ALDRICH SYNDROME 2 | MONDO:0013779 | OMIM ID:614493 | Wiskott-Aldrich syndrome 2 +BMGC_DS14431,BMG_DS054986,MONDO:0013780 | retinitis pigmentosa 63 | UMLS ID:C3281002 | RETINITIS PIGMENTOSA 63 | OMIM ID:614494 +BMGC_DS14432,BMG_DS054987,"MICROPHTHALMIA/COLOBOMA 7 | OMIM ID:614497 | MONDO:0013783 | UMLS ID:C3281027 | microphthalmia, isolated, with coloboma 7 | OMIM ID:605452" +BMGC_DS14433,BMG_DS054988,"Lethal neonatal rigidity, multifocal seizure syndrome | OMIM ID:614498 | Lethal neonatal spasticity, epileptic encephalopathy syndrome | SNOMEDCT ID:1197587003 | UMLS ID:C3281029 | MONDO:0013784 | Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | neonatal-onset encephalopathy with rigidity and seizures" +BMGC_DS14434,BMG_DS054989,"UMLS ID:C3281044 | intellectual disability, autosomal recessive 34 | autosomal recessive intellectual developmental disorder 34 | OMIM ID:614499 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY | OMIM ID:603454 | DOID:0081200 | MONDO:0013785" +BMGC_DS14435,BMG_DS054990,cone-rod dystrophy 16 | DOID:0111022 | OMIM ID:614500 | CONE-ROD DYSTROPHY 16 | MONDO:0013786 | OMIM ID:614477 | UMLS ID:C3281045 +BMGC_DS14436,BMG_DS054991,cone-rod dystrophy 16 | retinitis pigmentosa 64 | DOID:0111022 | OMIM ID:614500 | RETINITIS PIGMENTOSA 64 | MONDO:0800359 | OMIM ID:614477 | UMLS ID:C3281046 +BMGC_DS14437,BMG_DS054992,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES | UMLS ID:C3281055 | OMIM ID:614501 | OMIM ID:608241 | MONDO:0013787 | psychomotor retardation, epilepsy, and craniofacial dysmorphism" +BMGC_DS14438,BMG_DS054993,"Usher syndrome type 3B | OMIM ID:614504 | UMLS ID:C3281066 | OMIM ID:142810 | USHER SYNDROME, TYPE IIIB | MONDO:0013788" +BMGC_DS14439,BMG_DS054994,UMLS ID:C3281084 | Dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation | Carbohydrate deficient glycoprotein syndrome type Ir | DDOST-congenital disorder of glycosylation | SNOMEDCT ID:733083006 | Congenital disorder of glycosylation type Ir | Congenital disorder of glycosylation type 1r (disorder) | MONDO:0013789 | DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation | Congenital disorder of glycosylation type 1r | OMIM ID:614507 +BMGC_DS14440,BMG_DS054995,OMIM ID:179617 | OMIM ID:614508 | MIRROR MOVEMENTS 2 | MONDO:0013790 | mirror movements 2 | UMLS ID:C3281089 +BMGC_DS14441,BMG_DS054996,"UMLS ID:C3281092 | THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE | MONDO:0013791 | OMIM ID:614514 | thrombophilia due to protein S deficiency, autosomal recessive | autosomal recessive thrombophilia due to protein S deficiency | DOID:0111905 | OMIM ID:176880" +BMGC_DS14442,BMG_DS054997,"UMLS ID:C3281105 | hemorrhage, intracerebral, susceptibility to | MONDO:0100533 | OMIM ID:614519" +BMGC_DS14443,BMG_DS054998,"UMLS ID:C3281106 | OMIM ID:614520 | ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY | MONDO:0013793 | encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency" +BMGC_DS14444,BMG_DS055000,THROMBOCYTHEMIA 3 | OMIM ID:147796 | thrombocythemia 3 | OMIM ID:614521 | MONDO:0013794 | UMLS ID:C3281125 +BMGC_DS14445,BMG_DS055001,fibrochondrogenesis 2 | FIBROCHONDROGENESIS 2 | OMIM ID:120290 | OMIM ID:614524 | UMLS ID:C3281128 | MONDO:0013795 | DOID:0080673 +BMGC_DS14446,BMG_DS055002,MONDO:0013796 | SNOMEDCT ID:764435003 | UMLS ID:C3281137 | 17q12 microduplication syndrome | Trisomy 17q12 | chromosome 17q12 duplication syndrome | 17q12 duplication syndrome | Chromosome 17q12 duplication syndrome | OMIM ID:614526 | 17q12 microduplication syndrome (disorder) +BMGC_DS14447,BMG_DS055003,UMLS ID:C3281138 | chromosome 17q12 deletion syndrome | MONDO:0013797 | CHROMOSOME 17q12 DELETION SYNDROME | OMIM ID:614527 +BMGC_DS14448,BMG_DS055004,UMLS ID:C3281152 | MONDO:0013798 | CHROMOSOME 16q22 DELETION SYNDROME | OMIM ID:614541 | DOID:0060401 | chromosome 16q22 deletion syndrome +BMGC_DS14449,BMG_DS055005,"UMLS ID:C3281153 | MONDO:0800431 | efavirenz central nervous system toxicity, susceptibility to" +BMGC_DS14450,BMG_DS055006,"EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | OMIM ID:614505 | Ehlers-Danlos syndrome kyphoscoliotic type 2 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | MONDO:0013800 | UMLS ID:C3281160 | DOID:0080735 | OMIM ID:614557" +BMGC_DS14451,BMG_DS055008,"Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) | UMLS ID:C3281191 | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | SCN8A-related epilepsy with encephalopathy | Early infantile epileptic encephalopathy 13 | SCN8A (sodium voltage-gated channel alpha subunit 8) related epilepsy with encephalopathy | MONDO:0013801 | developmental and epileptic encephalopathy, 13 | OMIM ID:614558 | SNOMEDCT ID:765170001 | SCN8A encephalopathy" +BMGC_DS14452,BMG_DS055009,infantile cerebellar-retinal degeneration | OMIM ID:614559 | MONDO:0013802 | UMLS ID:C3281192 | SNOMEDCT ID:782822006 | Infantile cerebellar and retinal degeneration (disorder) | Infantile cerebellar and retinal degeneration +BMGC_DS14453,BMG_DS055010,MeSH ID:C000598644 | Leukoencephalopathy Brain Calcifications and Cysts | UMLS ID:C3281200 | MONDO:0013803 | OMIM ID:614561 | leukoencephalopathy with calcifications and cysts +BMGC_DS14454,BMG_DS055011,OMIM ID:614556 | Coffin-Siris syndrome 1 | DOID:0070042 | COFFIN-SIRIS SYNDROME 1 | MONDO:0007617 | UMLS ID:C3281201 | OMIM ID:135900 | OMIM ID:609943 | OMIM ID:614562 +BMGC_DS14455,BMG_DS055012,"intellectual disability, autosomal dominant 13 | UMLS ID:C3281202 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | DOID:0070043 | OMIM ID:600112 | OMIM ID:614563 | MONDO:0013805 | autosomal dominant intellectual developmental disorder 13" +BMGC_DS14456,BMG_DS055013,OMIM ID:614564 | familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | UMLS ID:C3281203 | MONDO:0013806 +BMGC_DS14457,BMG_DS055014,"MONDO:0013807 | congenital stationary night blindness 1E | DOID:0110869 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E | OMIM ID:614565 | OMIM ID:614515 | UMLS ID:C3281215" +BMGC_DS14458,BMG_DS055016,"MONDO:0044720 | CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME | UMLS ID:C3281223 | OMIM ID:102579 | cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | OMIM ID:614575" +BMGC_DS14459,BMG_DS055017,OMIM ID:102560 | UMLS ID:C3281235 | OMIM ID:614583 | DOID:0081113 | MONDO:0013812 | BARAITSER-WINTER SYNDROME 2 | Baraitser-winter syndrome 2 | Baraitser-Winter syndrome 2 +BMGC_DS14460,BMG_DS055018,dystonia 21 | DYSTONIA 21 | MONDO:0013813 | UMLS ID:C3281236 | OMIM ID:614588 +BMGC_DS14461,BMG_DS055020,MONDO:0013815 | OMIM ID:614592 | bent bone dysplasia syndrome 1 | UMLS ID:C3281247 | DOID:0060992 | OMIM ID:176943 | BENT BONE DYSPLASIA SYNDROME 1 +BMGC_DS14462,BMG_DS055027,OMIM ID:614595 | OMIM ID:605236 | preeclampsia/eclampsia 5 | UMLS ID:C3281288 | PREECLAMPSIA/ECLAMPSIA 5 | MONDO:0013817 +BMGC_DS14463,BMG_DS055028,TRICHOHEPATOENTERIC SYNDROME 2 | DOID:0111416 | OMIM ID:600478 | OMIM ID:614602 | UMLS ID:C3281289 | trichohepatoenteric syndrome 2 | MONDO:0013818 +BMGC_DS14464,BMG_DS055029,"autosomal dominant nonsyndromic hearing loss 4B | DEAFNESS, AUTOSOMAL DOMINANT 4B | OMIM ID:614591 | MONDO:0013823 | UMLS ID:C3281297 | OMIM ID:614614" +BMGC_DS14465,BMG_DS055032,OMIM ID:614286 | MONDO:0018881 | myelodysplastic syndrome | UMLS ID:C3463824 +BMGC_DS14466,BMG_DS055033,"OMIM ID:609661 | UMLS ID:C3463897 | MONDO:0009273 | hydatidiform mole, recurrent, 1 | HYDATIDIFORM MOLE, RECURRENT, 1 | OMIM ID:231090" +BMGC_DS14467,BMG_DS055035,Complement Factor I Deficiency | MONDO:0012594 | OMIM ID:610984 | complement factor I deficiency | DOID:0050419 | MeSH ID:C572568 | UMLS ID:C3463916 +BMGC_DS14468,BMG_DS055036,MONDO:0012524 | UMLS ID:C3463917 | OMIM ID:610600 | corticosterone methyloxidase type 2 deficiency +BMGC_DS14469,BMG_DS055037,"OMIM ID:308350 | MONDO:0010632 | developmental and epileptic encephalopathy, 1 | UMLS ID:C3463992 | DOID:0080468 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 | developmental and epileptic encephalopathy 1" +BMGC_DS14470,BMG_DS055038,"OMIM ID:227645 | OMIM ID:613899 | Fanconi anemia complementation group C | UMLS ID:C3468041 | DOID:0111087 | FANCONI ANEMIA, COMPLEMENTATION GROUP C | MONDO:0009213" +BMGC_DS14471,BMG_DS055040,Juvenile amyotrophic lateral sclerosis | SNOMEDCT ID:718555006 | juvenile amyotrophic lateral sclerosis | Juvenile amyotrophic lateral sclerosis (disorder) | JALS - juvenile amyotrophic lateral sclerosis | MONDO:0017593 | UMLS ID:C3468114 +BMGC_DS14472,BMG_DS055044,UMLS ID:C3468561 | MONDO:0018054 | familial atrial fibrillation +BMGC_DS14473,BMG_DS055059,"MONDO:0021001 | UMLS ID:C3469186 | OMIM ID:235200 | HEMOCHROMATOSIS, TYPE 1 | OMIM ID:613609 | hemochromatosis type 1" +BMGC_DS14474,BMG_DS055061,MONDO:0009215 | OMIM ID:227650 | UMLS ID:C3469521 | Fanconi anemia complementation group A +BMGC_DS14475,BMG_DS055062,"FANCONI ANEMIA, COMPLEMENTATION GROUP F | OMIM ID:603467 | UMLS ID:C3469526 | Fanconi anemia complementation group F | OMIM ID:613897 | DOID:0111088 | MONDO:0011325" +BMGC_DS14476,BMG_DS055063,MONDO:0013565 | UMLS ID:C3469527 | Fanconi anemia complementation group G | OMIM ID:614082 +BMGC_DS14477,BMG_DS055064,"MONDO:0013566 | OMIM ID:608111 | FANCONI ANEMIA, COMPLEMENTATION GROUP L | Fanconi anemia complementation group L | OMIM ID:614083 | UMLS ID:C3469528 | DOID:0111082" +BMGC_DS14478,BMG_DS055065,"MONDO:0013499 | UMLS ID:C3469542 | OMIM ID:613278 | DOID:0111092 | FANCONI ANEMIA, COMPLEMENTATION GROUP P | OMIM ID:613951 | Fanconi anemia complementation group P" +BMGC_DS14479,BMG_DS055066,"UMLS ID:C3469605 | OMIM ID:614495 | MONDO:0013781 | PSEUDOHYPOALDOSTERONISM, TYPE IID | pseudohypoaldosteronism type 2D" +BMGC_DS14480,BMG_DS055067,"OMIM ID:614496 | PSEUDOHYPOALDOSTERONISM, TYPE IIE | MONDO:0013782 | UMLS ID:C3469606 | OMIM ID:603136 | pseudohypoaldosteronism type 2E" +BMGC_DS14481,BMG_DS055071,Severe dehydration (disorder) | Severe dehydration | SNOMEDCT ID:450316000 | UMLS ID:C3472181 | OMIM ID:MTHU047755 +BMGC_DS14482,BMG_DS055080,MONDO:0015690 | UMLS ID:C3472621 | myeloid neoplasm associated with PDGFRB rearrangement +BMGC_DS14483,BMG_DS055095,spinocerebellar ataxia type 36 | SNOMEDCT ID:711158005 | Spinocerebellar ataxia type 36 (disorder) | OMIM ID:614153 | UMLS ID:C3472711 | Spinocerebellar ataxia type 36 | Spinocerebellar ataxia 36 | MONDO:0013594 | Asidan ataxia | Costa de Morte ataxia +BMGC_DS14484,BMG_DS055096,UMLS ID:C3484357 | OMIM ID:614073 | Hermansky-Pudlak syndrome 4 | MONDO:0013556 | DOID:0060542 | HERMANSKY-PUDLAK SYNDROME 4 | OMIM ID:606682 +BMGC_DS14485,BMG_DS055097,DOID:12642 | hiatus hernia | MONDO:0007721 | UMLS ID:C3489393 | OMIM ID:142400 +BMGC_DS14486,BMG_DS055098,"MeSH ID:D006954 | Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial | UMLS ID:C3489395 | Hyperlipoproteinemia Type V" +BMGC_DS14487,BMG_DS055099,"Hypogonadism, Isolated Hypogonadotropic | UMLS ID:C3489396 | MeSH ID:D007006 | Hypogonadism" +BMGC_DS14488,BMG_DS055102,"UMLS ID:C3489447 | Paralysis, Hyperkalemic Periodic | Hyperkalemic Periodic Paralysis Type 2 | MeSH ID:D020513" +BMGC_DS14489,BMG_DS055103,"tooth agenesis, selective, 1 | MONDO:0007129 | UMLS ID:C3489529 | OMIM ID:106600" +BMGC_DS14490,BMG_DS055104,MeSH ID:D000071700 | OMIM ID:120970 | Cone-Rod Dystrophies | Cone-Rod Dystrophy 2 | MONDO:0007362 | cone-rod dystrophy 2 | UMLS ID:C3489532 +BMGC_DS14491,BMG_DS055106,"UMLS ID:C3489627 | Stuttering, Familial Persistent 1 | stuttering | OMIM ID:184450 | DOID:0060243 | stuttering, familial persistent, 1 | Stuttering | MeSH ID:D013342 | MONDO:0008483" +BMGC_DS14492,BMG_DS055107,"MeSH ID:D013920 | UMLS ID:C3489628 | Thrombocytosis, Autosomal Dominant | Thrombocythemia, Essential" +BMGC_DS14493,BMG_DS055108,MeSH ID:D014786 | Vision Disability | UMLS ID:C3489704 | Vision Disorders +BMGC_DS14494,BMG_DS055109,Aicardi-Goutieres Syndrome 2 | MeSH ID:C535607 | UMLS ID:C3489724 | OMIM ID:610181 | Aicardi-Goutieres syndrome 2 | MONDO:0012429 +BMGC_DS14495,BMG_DS055110,pseudo-TORCH syndrome | MONDO:0009626 | Pseudo-TORCH syndrome | MeSH ID:C535607 | UMLS ID:C3489725 +BMGC_DS14496,BMG_DS055111,MONDO:0000127 | DOID:0111724 | UMLS ID:C3489726 | geleophysic dysplasia +BMGC_DS14497,BMG_DS055113,DOID:0070227 | MeSH ID:C535932 | UMLS ID:C3489728 | Familial intrahepatic cholestasis of pregnancy | intrahepatic cholestasis of pregnancy +BMGC_DS14498,BMG_DS055114,Familial mesangial sclerosis (disorder) | SNOMEDCT ID:236383002 | UMLS ID:C3489732 | Familial mesangial sclerosis | MeSH ID:C537346 +BMGC_DS14499,BMG_DS055115,Oculomotor apraxia | Oculomotor apraxia (disorder) | Oculomotor dyspraxia | SNOMEDCT ID:193662007 | OMIM ID:MTHU000629 | UMLS ID:C3489733 +BMGC_DS14500,BMG_DS055116,"UMLS ID:C3489734 | Anti-plasmin deficiency, congenital | MeSH ID:C537777" +BMGC_DS14501,BMG_DS055118,"MeSH ID:C536710 | OMIM ID:221750 | non-acquired combined pituitary hormone deficiency with spine abnormalities | MONDO:0009091 | UMLS ID:C3489787 | Pituitary Hormone Deficiency, Combined, 3" +BMGC_DS14502,BMG_DS055120,UMLS ID:C3489789 | progressive familial intrahepatic cholestasis type 2 | MONDO:0011156 | DOID:0070222 | progressive familial intrahepatic cholestasis 2 | OMIM ID:601847 +BMGC_DS14503,BMG_DS055123,"MONDO:0013066 | 46,XY sex reversal 3 | OMIM ID:612965 | UMLS ID:C3489793" +BMGC_DS14504,BMG_DS055125,"MeSH ID:C567925 | UMLS ID:C3489795 | Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant" +BMGC_DS14505,BMG_DS055126,"thyroid hormone resistance, generalized, autosomal recessive | UMLS ID:C3489796 | MONDO:0010131 | OMIM ID:274300 | MeSH ID:C567936 | Thyroid Hormone Resistance, Generalized, Autosomal Recessive" +BMGC_DS14506,BMG_DS055129,UMLS ID:C3492944 | MONDO:0007891 | familial generalized lentiginosis | Lentiginosis Profusa | OMIM ID:151001 | MeSH ID:C573023 +BMGC_DS14507,BMG_DS055130,"OMIM ID:603372 | OMIM ID:275200 | MONDO:0010142 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | UMLS ID:C3493776 | hypothyroidism due to TSH receptor mutations" +BMGC_DS14508,BMG_DS055131,Endemic Elephantiasis | UMLS ID:C3494151 | DOID:0050138 | podoconiosis | MeSH ID:D004604 | Elephantiasis +BMGC_DS14509,BMG_DS055132,DOID:0050138 | podoconiosis | UMLS ID:C3494152 | MeSH ID:D004604 | Elephantiasis | Endemic Non-Filarial Elephantiasis +BMGC_DS14510,BMG_DS055133,Bigfoot Disease | DOID:0050138 | podoconiosis | UMLS ID:C3494153 | MeSH ID:D004604 | Elephantiasis +BMGC_DS14511,BMG_DS055134,"MeSH ID:D016471 | Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous | Ovarian Hyperstimulation Syndrome | UMLS ID:C3494162" +BMGC_DS14512,BMG_DS055135,UMLS ID:C3494175 | MONDO:0007820 | OMIM ID:147251 | fused mandibular incisors +BMGC_DS14513,BMG_DS055136,UMLS ID:C3494181 | OMIM ID:168000 | MONDO:0008192 | paragangliomas 1 +BMGC_DS14514,BMG_DS055137,MeSH ID:D006467 | Hemophilia A | UMLS ID:C3494186 | Autosomal Hemophilia A +BMGC_DS14515,BMG_DS055138,MeSH ID:D006467 | Factor VIII Deficiency | UMLS ID:C3494187 | Hemophilia A +BMGC_DS14516,BMG_DS055145,"UMLS ID:C3494489 | Autoimmune polyendocrinopathy syndrome, type 1 | MeSH ID:C538275" +BMGC_DS14517,BMG_DS055146,"pseudohypoparathyroidism type 1A | UMLS ID:C3494506 | Pseudohypoparathyroidism, Type Ia | Pseudohypoparathyroidism | MONDO:0007078 | MeSH ID:D011547 | OMIM ID:103580" +BMGC_DS14518,BMG_DS055147,"UMLS ID:C3494522 | MeSH ID:D016649 | Hypergonadotropic Ovarian Failure, X-Linked | Primary Ovarian Insufficiency" +BMGC_DS14519,BMG_DS055228,UMLS ID:C3494934 | benign paroxysmal torticollis of infancy | MONDO:0019113 +BMGC_DS14520,BMG_DS055239,MMPSI - malignant migrating partial seizures of infancy | MONDO:0017385 | malignant migrating partial seizures of infancy | Malignant migrating partial epilepsy of infancy | Malignant migrating partial seizures of infancy (disorder) | Malignant migrating partial seizures of infancy | SNOMEDCT ID:784345005 | UMLS ID:C3494976 +BMGC_DS14521,BMG_DS055261,MONDO:0007660 | UMLS ID:C3495361 | OMIM ID:137575 | familial ossifying fibroma +BMGC_DS14522,BMG_DS055264,UMLS ID:C3495417 | craniofacial microsomia 1 | MONDO:0958175 | OMIM ID:164210 +BMGC_DS14523,BMG_DS055265,UMLS ID:C3495421 | chromosome 18q deletion syndrome | MeSH ID:C536580 | DOID:0060407 | Chromosome 18q syndrome +BMGC_DS14524,BMG_DS055267,Fanconi Syndrome | MONDO:0009216 | glycogen storage disease due to GLUT2 deficiency | DOID:0070562 | OMIM ID:227810 | Fanconi-Bickel Syndrome | Fanconi-Bickel syndrome | MeSH ID:D005198 | UMLS ID:C3495427 +BMGC_DS14525,BMG_DS055269,"OMIM ID:153800 | UMLS ID:C3495438 | MONDO:0007932 | MeSH ID:C562479 | age related macular degeneration 2 | Macular Degeneration, Age-Related, 2" +BMGC_DS14526,BMG_DS055272,DOID:0111868;DOID:2960 | nonphotosensitive trichothiodystrophy 5 | UMLS ID:C3495483 | MeSH ID:D054463 | Amish Brittle Hair Brain Syndrome | photosensitive trichothiodystrophy | Trichothiodystrophy Syndromes +BMGC_DS14527,BMG_DS055273,ICD10 ID:Q13.81 | Axenfeld syndrome | MONDO:0019187 | Axenfeld-Rieger syndrome (disorder) | MeSH ID:C535679 | UMLS ID:C3495488 | Axenfeld-Rieger syndrome | SNOMEDCT ID:417604002 +BMGC_DS14528,BMG_DS055275,Acrorenal Syndrome | acrorenal syndrome | UMLS ID:C3495490 | DOID:0060347 | MONDO:0007059 | MeSH ID:C563159 | OMIM ID:102520 +BMGC_DS14529,BMG_DS055276,"Cardiomyopathy, Familial Hypertrophic, 1 | hypertrophic cardiomyopathy 1 | OMIM ID:192600 | MONDO:0008647 | UMLS ID:C3495498 | MeSH ID:C566005" +BMGC_DS14530,BMG_DS055279,"OMIM ID:270100 | UMLS ID:C3495537 | heterotaxy, visceral, 5, autosomal | MONDO:0700112" +BMGC_DS14531,BMG_DS055282,Dihydropyrimidinuria | UMLS ID:C3495551 | dihydropyrimidine dehydrogenase deficiency | Dihydropyrimidine Dehydrogenase Deficiency | MeSH ID:D054067 | DOID:14218 +BMGC_DS14532,BMG_DS055284,Homocarnosinase deficiency | DOID:0060177 | UMLS ID:C3495554 | MeSH ID:C535328 | Homocarnosinosis | SNOMEDCT ID:61764000 | homocarnosinosis | Homocarnosinase deficiency (disorder) +BMGC_DS14533,BMG_DS055285,DOID:0060177 | MONDO:0008921 | Carnosinaemia | Aminoacyl-histidine dipeptidase deficiency | Carnosinuria | MeSH ID:C535328 | SNOMEDCT ID:237924005 | carnosinemia | Carnosinase deficiency | Carnosinemia | Carnosinemia (disorder) | homocarnosinosis | OMIM ID:212200 | UMLS ID:C3495555 | Aminoacyl-histidine dipeptidase deficiency (disorder) | SNOMEDCT ID:13271000 | SNOMEDCT ID:410052008 +BMGC_DS14534,BMG_DS055287,OMIM ID:MTHU070181 | Juvenile arthritis | JCA - Juvenile chronic arthritis | juvenile idiopathic arthritis | Juvenile chronic arthritis | ICD10 ID:M08 | UMLS ID:C3495559 | Juvenile chronic arthritis (disorder) | MONDO:0011429 | OMIM ID:604302 | SNOMEDCT ID:239796000 +BMGC_DS14535,BMG_DS055289,"UMLS ID:C3495587 | Night Blindness, Congenital Stationary, Type 1A | MeSH ID:C536122 | OMIM ID:310500 | MONDO:0010690 | congenital stationary night blindness 1A" +BMGC_DS14536,BMG_DS055290,acrocephalopolydactyly | MONDO:0008709 | MeSH ID:C573722 | OMIM ID:200995 | UMLS ID:C3495588 | Acrocephalopolydactylous Dysplasia +BMGC_DS14537,BMG_DS055291,OMIM ID:217080 | Amelogenesis imperfecta co-occurrent with cone rod dystrophy (disorder) | MeSH ID:C000596385 | UMLS ID:C3495589 | SNOMEDCT ID:707608003 | Jalili syndrome | MONDO:0009007 | Amelogenesis imperfecta co-occurrent with cone rod dystrophy | DOID:0111404 +BMGC_DS14538,BMG_DS055293,"UMLS ID:C3495591 | Charcot-Marie-Tooth disease type 1E | MONDO:0007311 | MeSH ID:C566136 | Charcot-Marie-Tooth Disease, Demyelinating, Type 1e | OMIM ID:118300" +BMGC_DS14539,BMG_DS055295,MONDO:0007136 | OMIM ID:107100 | hereditary anorectal anomalies | UMLS ID:C3495676 +BMGC_DS14540,BMG_DS055296,17q11.2 microduplication syndrome | MONDO:0015350 | UMLS ID:C3495679 | MeSH ID:C567173 | OMIM ID:618874 | NF1 Microduplication Syndrome +BMGC_DS14541,BMG_DS055298,Granulomatosis with polyangiitis (disorder) | Granulomatosis with polyangiitis | OMIM ID:608710 | DOID:12132 | granulomatosis with polyangiitis | Necrotizing respiratory granulomatosis | SNOMEDCT ID:195353004 | ICD10 ID:M31.3 | MONDO:0012105 | ICD11 ID:4A44.A1 | Necrotising respiratory granulomatosis | UMLS ID:C3495801 +BMGC_DS14542,BMG_DS055300,Nonepileptic Seizures | Seizures | MeSH ID:D012640 | UMLS ID:C3495874 +BMGC_DS14543,BMG_DS055304,"MeSH ID:C567311 | Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia | UMLS ID:C3496228 | hereditary spastic paraplegia 35 | OMIM ID:612319 | MONDO:0012866" +BMGC_DS14544,BMG_DS055306,MONDO:0018170 | idiopathic nephrotic syndrome | UMLS ID:C3496337 +BMGC_DS14545,BMG_DS055307,Middle aortic syndrome | Middle aortic syndrome (disorder) | atypical coarctation of aorta | MONDO:0015446 | SNOMEDCT ID:471268000 | UMLS ID:C3496579 +BMGC_DS14546,BMG_DS055308,Parkinson Disease 13 | UMLS ID:C3496588 | MeSH ID:C565204 +BMGC_DS14547,BMG_DS055311,"MeSH ID:C537185 | UMLS ID:C3501249 | Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome" +BMGC_DS14548,BMG_DS055312,"UMLS ID:C3501265 | MeSH ID:C565236 | Deafness, Sensorineural, with Hypertrophic Cardiomyopathy" +BMGC_DS14549,BMG_DS055314,"UMLS ID:C3501372 | Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive | MeSH ID:C567624" +BMGC_DS14550,BMG_DS055316,X-linked intellectual disability-seizures-psoriasis syndrome | MONDO:0010652 | MeSH ID:C564107 | UMLS ID:C3501539 | OMIM ID:309480 | Mental Retardation associated with Psoriasis +BMGC_DS14551,BMG_DS055319,"MeSH ID:C564490 | non-syndromic X-linked intellectual disability | Mental Retardation, X-Linked Nonsyndromic | MONDO:0019181 | UMLS ID:C3501611" +BMGC_DS14552,BMG_DS055320,"UMLS ID:C3501643 | Generalized Epilepsy With Febrile Seizures Plus, Type 5 | MeSH ID:C565812" +BMGC_DS14553,BMG_DS055321,"MeSH ID:C564217 | Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to | UMLS ID:C3501647" +BMGC_DS14554,BMG_DS055324,UMLS ID:C3501679 | MeSH ID:C566055 | Bleeding Disorder due to Defective Thromboxane A2 Receptor +BMGC_DS14555,BMG_DS055326,MeSH ID:C566080 | T-Cell OKT4 Deficiency | UMLS ID:C3501681 +BMGC_DS14556,BMG_DS055337,"Microcephaly, Primary Autosomal Recessive, 2 | UMLS ID:C3501830 | MeSH ID:C565794" +BMGC_DS14557,BMG_DS055345,"UMLS ID:C3501847 | MeSH ID:C536122 | Night blindness, congenital stationary, type 1" +BMGC_DS14558,BMG_DS055346,"UMLS ID:C3501848 | MONDO:0002350 | Nephrosis, congenital | MeSH ID:C535761 | familial nephrotic syndrome | DOID:2590" +BMGC_DS14559,BMG_DS055347,mitochondrial DNA depletion syndrome 8b | Mngie Without Leukoencephalopathy | MeSH ID:C536350 | DOID:0080127;DOID:0070331;DOID:0080119 | UMLS ID:C3501849 | mitochondrial DNA depletion syndrome 1 | mitochondrial DNA depletion syndrome 8a +BMGC_DS14560,BMG_DS055352,"MONDO:0700060 | OMIM ID:308960 | UMLS ID:C3501854 | leukemia, acute, X-linked" +BMGC_DS14561,BMG_DS055355,"MeSH ID:C566370 | Muscular Dystrophy, Limb-Girdle, Type 1D | UMLS ID:C3501858" +BMGC_DS14562,BMG_DS055357,"UMLS ID:C3501891 | mitochondrial DNA depletion syndrome 2 | Mitochondrial DNA Depletion Syndrome, Myopathic Form | MeSH ID:C563698 | DOID:0080120" +BMGC_DS14563,BMG_DS055362,Cerebrocostomandibular-Like Syndrome | UMLS ID:C3501912 | MeSH ID:C562538 +BMGC_DS14564,BMG_DS055371,"UMLS ID:C3502051 | MeSH ID:C567348 | Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive" +BMGC_DS14565,BMG_DS055372,"UMLS ID:C3502052 | MeSH ID:C567347 | Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant" +BMGC_DS14566,BMG_DS055373,"UMLS ID:C3502054 | Leukodystrophy, Dysmyelinating, with Oligodontia | MeSH ID:C564344 | MONDO:0019177 | odontoleukodystrophy" +BMGC_DS14567,BMG_DS055378,"MeSH ID:C564735 | UMLS ID:C3502073 | Woolly Hair, Autosomal Recessive" +BMGC_DS14568,BMG_DS055379,multiple mitochondrial dysfunctions syndrome | MeSH ID:C565304 | UMLS ID:C3502075 | MONDO:0017338 | fatal multiple mitochondrial dysfunctions syndrome | 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 | MeSH ID:C565513 | UMLS ID:C3502110" +BMGC_DS14571,BMG_DS055386,"MeSH ID:C566130 | UMLS ID:C3502131 | Adrenal Insufficiency, Congenital" +BMGC_DS14572,BMG_DS055387,"MeSH ID:C566131 | Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal | UMLS ID:C3502132" +BMGC_DS14573,BMG_DS055394,UMLS ID:C3502214 | MeSH ID:C565898 | microcephalic osteodysplastic primordial dwarfism type II | DOID:0060609 | Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities +BMGC_DS14574,BMG_DS055400,"UMLS ID:C3502293 | Deafness, Autosomal Recessive 36, Without Vestibular Involvement | MeSH ID:C567219" +BMGC_DS14575,BMG_DS055406,Atresia of External Auditory Canal and Conduction Deafness | atresia of external auditory canal and conductive deafness | UMLS ID:C3502361 | OMIM ID:108760 | MeSH ID:C566245 | MONDO:0007170 +BMGC_DS14576,BMG_DS055419,"MONDO:0019414 | UMLS ID:C3502469 | BRESEK syndrome | Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia | MeSH ID:C564519" +BMGC_DS14577,BMG_DS055420,"UMLS ID:C3502492 | Microcephaly with Chorioretinopathy, Autosomal Recessive | MeSH ID:C565379" +BMGC_DS14578,BMG_DS055421,Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal | MeSH ID:C565693 | UMLS ID:C3502495 +BMGC_DS14579,BMG_DS055432,MONDO:0018214 | DOID:0060170 | Generalized Epilepsy with Febrile Seizures Plus | UMLS ID:C3502809 | generalized epilepsy with febrile seizures plus | MeSH ID:C565808 +BMGC_DS14580,BMG_DS055463,MONDO:0020521 | Ehlers-Danlos syndrome type 7A | UMLS ID:C3508773 +BMGC_DS14581,BMG_DS055638,UMLS ID:C3532239 | SNOMEDCT ID:472315005 | Mitochondrial cardiomyopathy (disorder) | Mitochondrial cardiomyopathy +BMGC_DS14582,BMG_DS055642,Fatal infantile mitochondrial cardiomyopathy | UMLS ID:C3532243 | Fatal infantile mitochondrial cardiomyopathy (disorder) | SNOMEDCT ID:472319004 +BMGC_DS14583,BMG_DS055645,Fetal cardiomyopathy | SNOMEDCT ID:472323007 | UMLS ID:C3532247 | Foetal cardiomyopathy | Fetal cardiomyopathy (disorder) +BMGC_DS14584,BMG_DS055736,MONDO:0019638 | renal dysplasia | UMLS ID:C3536714 +BMGC_DS14585,BMG_DS055737,SNOMEDCT ID:274945004 | SNOMEDCT ID:84137001 | AA amyloidosis | AA amyloidosis (disorder) | Amyloid A amyloidosis (disorder) | Amyloid A amyloidosis | MONDO:0019439 | MeSH ID:C000718787 | UMLS ID:C3536715 +BMGC_DS14586,BMG_DS055738,Secondary systemic amyloidosis (disorder) | AA amyloidosis | Secondary systemic amyloidosis | ICD10 ID:E85.3 | DOID:0080936 | UMLS ID:C3536716 | ICD11 ID:5D00.1 | serum amyloid A amyloidosis | SNOMEDCT ID:858580008 +BMGC_DS14587,BMG_DS055741,"Ichthyosis, Lamellar | Ichthyosis Congenita II | MeSH ID:D017490 | UMLS ID:C3536797" +BMGC_DS14588,BMG_DS055746,"UMLS ID:C3536983 | MeSH ID:D053098 | Familial Hypophosphatemic Rickets | MONDO:0019642 | vitamin D-dependent rickets, type 2" +BMGC_DS14589,BMG_DS055747,"MeSH ID:D053098 | UMLS ID:C3536984 | Vitamin D-Resistant Rickets, X-Linked | Familial Hypophosphatemic Rickets" +BMGC_DS14590,BMG_DS055748,MONDO:0003676 | inferolateral myocardial infarct | UMLS ID:C3537017 | DOID:5852 +BMGC_DS14591,BMG_DS055749,MeSH ID:D008575 | Meniere Disease | Ménière's Vertigo | UMLS ID:C3537146 +BMGC_DS14592,BMG_DS055752,"Cystinosis, Infantile Nephropathic | MeSH ID:C565655 | MONDO:0018467 | UMLS ID:C3537440 | nephropathic infantile cystinosis" +BMGC_DS14593,BMG_DS055753,"Kaposi sarcoma, susceptibility to | OMIM ID:148000 | UMLS ID:C3538945 | MONDO:0007845" +BMGC_DS14594,BMG_DS055754,"UMLS ID:C3538946 | MONDO:0010933 | OMIM ID:600791 | OMIM ID:605646 | autosomal recessive nonsyndromic hearing loss 4 | OMIM ID:601093 | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT" +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 | OMIM ID:602091 | MONDO:0009633 | OMIM ID:251750" +BMGC_DS14596,BMG_DS055756,MONDO:0013928 | dystonia 23 | DYSTONIA 23 | OMIM ID:614860 | UMLS ID:C3538999 +BMGC_DS14597,BMG_DS055757,Hereditary sensory and autonomic neuropathy type VI | OMIM ID:614653 | Hereditary sensory and autonomic neuropathy type 6 (disorder) | MONDO:0013839 | Familial dysautonomia with contractures | hereditary sensory and autonomic neuropathy type 6 | HSAN6 - hereditary sensory and autonomic neuropathy type 6 | UMLS ID:C3539003 | Hereditary sensory and autonomic neuropathy type 6 | SNOMEDCT ID:1279838005 +BMGC_DS14598,BMG_DS055758,"OMIM ID:614866 | UMLS ID:C3539010 | DOID:0080480 | peroxisome biogenesis disorder 5A | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F" +BMGC_DS14599,BMG_DS055759,AICARDI-GOUTIERES SYNDROME 6 | MONDO:0014007 | Aicardi-Goutieres syndrome 6 | OMIM ID:146920 | UMLS ID:C3539013 | OMIM ID:615010 +BMGC_DS14600,BMG_DS055760,DOID:0111122 | NEPHRONOPHTHISIS 14 | MONDO:0013916 | nephronophthisis 14 | OMIM ID:614844 | UMLS ID:C3539071 | OMIM ID:604557 +BMGC_DS14601,BMG_DS055761,"OMIM ID:614731 | MONDO:0013872 | prostate cancer, hereditary, 2 | UMLS ID:C3539120" +BMGC_DS14602,BMG_DS055762,"UMLS ID:C3539123 | OMIM ID:614706 | CEROID LIPOFUSCINOSIS, NEURONAL, 11 | neuronal ceroid lipofuscinosis 11 | OMIM ID:138945 | MONDO:0013866" +BMGC_DS14603,BMG_DS055763,"OMIM ID:614990 | Usher syndrome type 1K | UMLS ID:C3539124 | MONDO:0014001 | USHER SYNDROME, TYPE IK" +BMGC_DS14604,BMG_DS055764,"DOID:0080482 | UMLS ID:C3539168 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A | OMIM ID:614872 | peroxisome biogenesis disorder 7A" +BMGC_DS14605,BMG_DS055765,"OMIM ID:614782 | OMIM ID:137070 | essential tremor 4 | MONDO:0013888 | TREMOR, HEREDITARY ESSENTIAL, 4 | UMLS ID:C3539195 | tremor, hereditary essential, 4 | DOID:0111431" +BMGC_DS14606,BMG_DS055766,"SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE | MONDO:0013962 | UMLS ID:C3539494 | OMIM ID:614898 | hereditary spastic paraplegia 53 | OMIM ID:609927" +BMGC_DS14607,BMG_DS055767,"SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE | OMIM ID:615003 | UMLS ID:C3539495 | hereditary spastic paraplegia 54 | MONDO:0014018 | OMIM ID:615033" +BMGC_DS14608,BMG_DS055768,"hereditary spastic paraplegia 55 | SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE | OMIM ID:613541 | UMLS ID:C3539506 | MONDO:0014020 | OMIM ID:615035" +BMGC_DS14609,BMG_DS055769,"UMLS ID:C3539507 | hereditary spastic paraplegia 56 | MONDO:0014015 | OMIM ID:615030 | OMIM ID:610670 | SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE" +BMGC_DS14610,BMG_DS055770,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 | MONDO:0011680 | autosomal recessive congenital ichthyosis 3 | OMIM ID:607206 | UMLS ID:C3539888 | OMIM ID:606545" +BMGC_DS14611,BMG_DS055771,"OMIM ID:614937 | MYOCLONUS, FAMILIAL CORTICAL | UMLS ID:C3539916 | MONDO:0100093 | myoclonus, familial, 1" +BMGC_DS14612,BMG_DS055772,"ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE | ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | MONDO:0013983 | DOID:0111654 | OMIM ID:614941 | OMIM ID:606603 | ectodermal dysplasia 11B | UMLS ID:C3539920" +BMGC_DS14613,BMG_DS055773,MONDO:0013926 | OMIM ID:614858 | HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA | UMLS ID:C3540450 | hypogonadotropic hypogonadism 14 with or without anosmia +BMGC_DS14614,BMG_DS055774,"Charcot-Marie-Tooth disease type 4F | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F | OMIM ID:614895 | UMLS ID:C3540453 | MONDO:0013959" +BMGC_DS14615,BMG_DS055775,Leber Congenital Amaurosis | MeSH ID:D057130 | UMLS ID:C3540662 | Congenital Amaurosis of Retinal Origin +BMGC_DS14616,BMG_DS055776,"CILIARY DYSKINESIA, PRIMARY, 20 | UMLS ID:C3540844 | OMIM ID:615038 | OMIM ID:615067 | primary ciliary dyskinesia 20 | MONDO:0014030" +BMGC_DS14617,BMG_DS055777,"OMIM ID:610745 | UMLS ID:C3540845 | microphthalmia, isolated, with coloboma 8 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8 | MONDO:0800324" +BMGC_DS14618,BMG_DS055778,"MONDO:0007281 | CATARACT 4, MULTIPLE TYPES | OMIM ID:115700 | cataract 4 multiple types | UMLS ID:C3540850 | OMIM ID:123690" +BMGC_DS14619,BMG_DS055779,"X-linked hypophosphatemic rickets | Familial Hypophosphatemic Rickets | UMLS ID:C3540852 | MeSH ID:D053098 | DOID:0050445 | X-linked dominant hypophosphatemic rickets | Rickets, X-Linked Hypophosphatemic | MONDO:0020720" +BMGC_DS14620,BMG_DS055780,"OMIM ID:608025 | MONDO:0013889 | UMLS ID:C3541319 | short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | OMIM ID:614800 | SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY" +BMGC_DS14621,BMG_DS055781,PONTINE TEGMENTAL CAP DYSPLASIA | pontine tegmental cap dysplasia | OMIM ID:614688 | MONDO:0013858 | UMLS ID:C3541340 +BMGC_DS14622,BMG_DS055783,"spondyloepiphyseal dysplasia tarda, X-linked | UMLS ID:C3541456 | OMIM ID:313400 | MONDO:0010737" +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,"OMIM ID:124000 | DOID:0080111 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 | MONDO:0007415 | OMIM ID:603647 | mitochondrial complex III deficiency nuclear type 1 | UMLS ID:C3541471" +BMGC_DS14625,BMG_DS055788,"autosomal recessive isolated ectopia lentis 2 | MONDO:0009152 | OMIM ID:610113 | OMIM ID:225100 | DOID:0111149 | ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE | ectopia lentis 2, isolated, autosomal recessive | UMLS ID:C3541474" +BMGC_DS14626,BMG_DS055789,"DOID:0081345 | congenital myopathy 10B | MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT | OMIM ID:620249 | congenital myopathy 10b, mild variant | MONDO:0859515 | UMLS ID:C3541476" +BMGC_DS14627,BMG_DS055790,"UMLS ID:C3541517 | DOID:0111653 | OMIM ID:614940 | ectodermal dysplasia 11A | OMIM ID:606603 | MONDO:0013982 | ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT" +BMGC_DS14628,BMG_DS055791,"ectopia lentis 1, isolated, autosomal dominant | OMIM ID:129600 | UMLS ID:C3541518 | OMIM ID:134797 | MONDO:0007514 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT" +BMGC_DS14629,BMG_DS055792,OMIM ID:614845 | NEPHRONOPHTHISIS 15 | UMLS ID:C3541853 | MONDO:0013917 | DOID:0111123 | nephronophthisis 15 | OMIM ID:614848 +BMGC_DS14630,BMG_DS055793,Drug Hypersensitivity Syndrome | UMLS ID:C3541994 | MONDO:0015340 | drug rash with eosinophilia and systemic symptoms | MeSH ID:D063926 +BMGC_DS14631,BMG_DS055794,"MeSH ID:D020388 | UMLS ID:C3542021 | Duchenne and Becker Muscular Dystrophy | Muscular Dystrophy, Duchenne" +BMGC_DS14632,BMG_DS055795,"short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | SNOMEDCT ID:773625007 | SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome | Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | SOFT syndrome | Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | MONDO:0013894 | UMLS ID:C3542022 | OMIM ID:614813" +BMGC_DS14633,BMG_DS055796,aortic valve disease 2 | UMLS ID:C3542024 | OMIM ID:614823 | MONDO:0013902 | OMIM ID:602931 | AORTIC VALVE DISEASE 2 | DOID:0080334 +BMGC_DS14634,BMG_DS055797,"OMIM ID:147450 | OMIM ID:105400 | UMLS ID:C3542025 | AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE" +BMGC_DS14635,BMG_DS055798,OMIM ID:614867 | UMLS ID:C3542026 | Peroxisome biogenesis disorder 5B | MONDO:0013933 | DOID:0081434 | PEROXISOME BIOGENESIS DISORDER 5B | peroxisome biogenesis disorder 5B | OMIM ID:170993 +BMGC_DS14636,BMG_DS055799,Aminoacylase 2 Deficiency | MeSH ID:D017825 | Canavan Disease | UMLS ID:C3542499 +BMGC_DS14637,BMG_DS055800,"MeSH ID:D018500 | ADH-Resistant Diabetes Insipidus | Diabetes Insipidus, Nephrogenic | UMLS ID:C3542500" +BMGC_DS14638,BMG_DS055801,"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY | MONDO:0014016 | UMLS ID:C3542549 | OMIM ID:615000 | hereditary spastic paraplegia 49 | OMIM ID:615031" +BMGC_DS14639,BMG_DS055802,"OMIM ID:614677 | CILIARY DYSKINESIA, PRIMARY, 17 | UMLS ID:C3542550 | primary ciliary dyskinesia 17 | OMIM ID:614679 | MONDO:0013854" +BMGC_DS14640,BMG_DS055803,"IMMUNODEFICIENCY, COMMON VARIABLE, 7 | common variable immunodeficiency 7 | MONDO:0013862 | OMIM ID:120650 | OMIM ID:614699 | DOID:0081150 | immunodeficiency, common variable, 7 | UMLS ID:C3542922" +BMGC_DS14641,BMG_DS055805,"CILIARY DYSKINESIA, PRIMARY, 18 | MONDO:0013940 | OMIM ID:614864 | UMLS ID:C3543825 | primary ciliary dyskinesia 18 | OMIM ID:614874" +BMGC_DS14642,BMG_DS055806,"UMLS ID:C3543826 | primary ciliary dyskinesia 19 | MONDO:0013979 | OMIM ID:614935 | CILIARY DYSKINESIA, PRIMARY, 19 | OMIM ID:614930" +BMGC_DS14643,BMG_DS055809,"UMLS ID:C3543867 | Ichthyosis, Lamellar | Collodion Fetus | MeSH ID:D017490" +BMGC_DS14644,BMG_DS055815,MONDO:0005414 | UMLS ID:C3544321 | treatment-refractory schizophrenia +BMGC_DS14645,BMG_DS055818,OMIM ID:104290 | OMIM ID:182340 | UMLS ID:C3549447 | alternating hemiplegia of childhood 1 | MONDO:0007087 | ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 +BMGC_DS14646,BMG_DS055819,UMLS ID:C3549486 | OMIM ID:607922 | OMIM ID:111400 | NOR POLYAGGLUTINATION SYNDROME +BMGC_DS14647,BMG_DS055820,ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL | OMIM ID:114290 | OMIM ID:608160 | UMLS ID:C3549544 +BMGC_DS14648,BMG_DS055826,"UMLS ID:C3549845 | intrahepatic cholestasis of pregnancy 1 | OMIM ID:602397 | DOID:0070228 | OMIM ID:147480 | cholestasis, intrahepatic, of pregnancy, 1 | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 | MONDO:0007829" +BMGC_DS14649,BMG_DS055827,"OMIM ID:602170 | MACROGLOBULINEMIA, WALDENSTROM, SOMATIC | UMLS ID:C3549870" +BMGC_DS14650,BMG_DS055829,UMLS ID:C3549874 | OMIM ID:156510 | MONDO:0007984 | DOID:0111513 | METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY | metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome +BMGC_DS14651,BMG_DS055831,UMLS ID:C3550234 | MONDO:0008736 | peroxisome biogenesis disorder 2B | OMIM ID:202370 +BMGC_DS14652,BMG_DS055832,peroxisome biogenesis disorder 2A (Zellweger) | OMIM ID:214110 | UMLS ID:C3550273 | MONDO:0008954 +BMGC_DS14653,BMG_DS055833,"DOID:0080477 | OMIM ID:214110 | peroxisome biogenesis disorder, complementation group 2 | UMLS ID:C3550274 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2 | MONDO:0800298 | peroxisome biogenesis disorder 2A" +BMGC_DS14654,BMG_DS055836,"UMLS ID:C3550398 | hyperbilirubinemia, shunt, primary | HYPERBILIRUBINEMIA, SHUNT, PRIMARY | OMIM ID:237800 | MONDO:0009382" +BMGC_DS14655,BMG_DS055841,MONDO:0009482 | OMIM ID:607123 | OMIM ID:244200 | UMLS ID:C3550478 | HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 3 with or without anosmia +BMGC_DS14656,BMG_DS055843,"polydactyly, postaxial, type A5 | MONDO:0009893 | OMIM ID:263450 | UMLS ID:C3550661 | POLYDACTYLY, POSTAXIAL, TYPE A5" +BMGC_DS14657,BMG_DS055844,DOID:0081241 | peroxisome biogenesis disorder type 3B | peroxisome biogenesis disorder 3B | PEROXISOME BIOGENESIS DISORDER 3B | MONDO:0009959 | UMLS ID:C3550693 | OMIM ID:266510 +BMGC_DS14658,BMG_DS055846,"THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA | thrombocytopenia, X-linked, with or without dyserythropoietic anemia | MONDO:0010308 | OMIM ID:300367 | UMLS ID:C3550789" +BMGC_DS14659,BMG_DS055847,"X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | UMLS ID:C3550856 | ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES | OMIM ID:300835 | MONDO:0010444 | X-linked dyserythropoietic anemia | OMIM ID:305371 | DOID:0112156" +BMGC_DS14660,BMG_DS055849,"OMIM ID:300777 | OMIM ID:300872 | UMLS ID:C3550875 | AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 | MONDO:0010469 | epsilon-trimethyllysine hydroxylase deficiency" +BMGC_DS14661,BMG_DS055850,OMIM ID:300882 | OMIM ID:300269 | CORNELIA DE LANGE SYNDROME 5 | UMLS ID:C3550903 | Cornelia de Lange syndrome 5 | MONDO:0010471 | DOID:0080509 +BMGC_DS14662,BMG_DS055851,"MONDO:0010473 | OMIM ID:300886 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | UMLS ID:C3550913 | DOID:0060828 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 32" +BMGC_DS14663,BMG_DS055852,OMIM ID:300887 | DOID:0111877 | LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 | UMLS ID:C3550921 | linear skin defects with multiple congenital anomalies 2 | MONDO:0010474 | OMIM ID:300885 +BMGC_DS14664,BMG_DS055854,"OMIM ID:300888 | X-linked central congenital hypothyroidism with late-onset testicular enlargement | OMIM ID:300137 | HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT | UMLS ID:C3550963 | MONDO:0010475" +BMGC_DS14665,BMG_DS055855,OMIM ID:300894 | UMLS ID:C3550973 | MONDO:0010476 | neurodegeneration with brain iron accumulation 5 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | OMIM ID:300526 +BMGC_DS14666,BMG_DS055856,MONDO:0010558 | OMIM ID:303110 | UMLS ID:C3551019 | CHROMOSOME Xq21 DELETION SYNDROME | choroideremia-deafness-obesity syndrome +BMGC_DS14667,BMG_DS055860,"OMIM ID:600343 | MONDO:0010872 | UMLS ID:C3551133 | PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF | parotid salivary glands, polycystic dysgenetic disease of" +BMGC_DS14668,BMG_DS055861,OMIM ID:609413 | MONDO:0010909 | UMLS ID:C3551173 | UV-SENSITIVE SYNDROME 1 | OMIM ID:600630 | UV-sensitive syndrome 1 +BMGC_DS14669,BMG_DS055863,"MONDO:0011219 | UMLS ID:C3551424 | ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE | Fried's tooth and nail syndrome | OMIM ID:602401" +BMGC_DS14670,BMG_DS055864,UMLS ID:C3551443 | OMIM ID:602588 | ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT +BMGC_DS14671,BMG_DS055866,OMIM ID:138090 | CORTISONE REDUCTASE DEFICIENCY 1 | OMIM ID:604931 | cortisone reductase deficiency 1 | MONDO:0011503 | UMLS ID:C3551716 | DOID:0090141 +BMGC_DS14672,BMG_DS055868,OMIM ID:607174 | UMLS ID:C3551915 | familial meningioma | MONDO:0011789 +BMGC_DS14673,BMG_DS055869,"coenzyme Q10 deficiency, primary, 1 | OMIM ID:607426 | OMIM ID:609825 | DOID:0070238 | UMLS ID:C3551954 | MONDO:0011829 | COENZYME Q10 DEFICIENCY, PRIMARY, 1 | primary coenzyme Q10 deficiency 1" +BMGC_DS14674,BMG_DS055870,MONDO:0800197 | achromatopsia 6 | OMIM ID:601190 | OMIM ID:610024 | ACHROMATOPSIA 6 | UMLS ID:C3552227 +BMGC_DS14675,BMG_DS055871,"MONDO:0012399 | OMIM ID:610031 | OMIM ID:612850 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 | UMLS ID:C3552236 | complex cortical dysplasia with other brain malformations 7 | DOID:0090132" +BMGC_DS14676,BMG_DS055873,"OMIM ID:125645 | UMLS ID:C3552311 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR" +BMGC_DS14677,BMG_DS055874,"congenital myasthenic syndrome 12 | DOID:0110660 | OMIM ID:138292 | MYASTHENIC SYNDROME, CONGENITAL, 12 | OMIM ID:610542 | MONDO:0012518 | UMLS ID:C3552335" +BMGC_DS14678,BMG_DS055875,UMLS ID:C3552343 | MONDO:0012528 | hypogonadotropic hypogonadism 4 with or without anosmia | OMIM ID:610628 | HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA | OMIM ID:607002 +BMGC_DS14679,BMG_DS055883,OMIM ID:612370 | hypogonadotropic hypogonadism 5 with or without anosmia | MONDO:0012880 | UMLS ID:C3552553 | HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA +BMGC_DS14680,BMG_DS055884,OMIM ID:600483 | HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA | OMIM ID:612702 | hypogonadotropic hypogonadism 6 with or without anosmia | MONDO:0012988 | UMLS ID:C3552574 +BMGC_DS14681,BMG_DS055885,MONDO:0013081 | OMIM ID:613011 | lymphoproliferative syndrome 1 | LYMPHOPROLIFERATIVE SYNDROME 1 | UMLS ID:C3552634 | OMIM ID:186973 +BMGC_DS14682,BMG_DS055886,UMLS ID:C3552852 | retinitis pigmentosa 65 | RETINITIS PIGMENTOSA 65 | MONDO:0800352 | OMIM ID:609502 | DOID:0111021 | OMIM ID:613660 | cone-rod dystrophy 15 +BMGC_DS14683,BMG_DS055888,"OMIM ID:613924 | UMLS ID:C3553029 | OMIM ID:613943 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 | autosomal recessive congenital ichthyosis 8 | MONDO:0013495" +BMGC_DS14684,BMG_DS055889,"autosomal dominant Emery-Dreifuss muscular dystrophy 7 | DOID:0070252 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | MONDO:0013677 | OMIM ID:614302 | EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT | OMIM ID:612048 | UMLS ID:C3553060" +BMGC_DS14685,BMG_DS055890,"syndromic microphthalmia 11 | MONDO:0013734 | UMLS ID:C3553077 | DOID:0111804 | OMIM ID:614402 | MICROPHTHALMIA, SYNDROMIC 11 | microphthalmia, syndromic 11 | OMIM ID:604294" +BMGC_DS14686,BMG_DS055893,Congenital disorder of glycosylation type IIL | UMLS ID:C3553230 | Component of oligomeric golgi complex 6-congenital disorder of glycosylation | COG6-congenital disorder of glycosylation | Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) | SNOMEDCT ID:1220574003 | MONDO:0013810 | Congenital disorder of glycosylation type 2l | COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation | OMIM ID:614576 +BMGC_DS14687,BMG_DS055894,"Coffin-Siris syndrome 2 | UMLS ID:C3553247 | COFFIN-SIRIS SYNDROME 2 | OMIM ID:603024 | MONDO:0013819 | DOID:0070044 | OMIM ID:614607 | intellectual disability, autosomal dominant 14" +BMGC_DS14688,BMG_DS055895,"intellectual disability, autosomal dominant 15 | Coffin-Siris syndrome 3 | COFFIN-SIRIS SYNDROME 3 | MONDO:0013820 | DOID:0070045 | UMLS ID:C3553248 | OMIM ID:614608 | OMIM ID:601607" +BMGC_DS14689,BMG_DS055896,"UMLS ID:C3553249 | Coffin-Siris syndrome 4 | COFFIN-SIRIS SYNDROME 4 | intellectual disability, autosomal dominant 16 | MONDO:0013821 | DOID:0070046 | OMIM ID:614609 | OMIM ID:603254" +BMGC_DS14690,BMG_DS055897,UMLS ID:C3553250 | ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | OMIM ID:614613 | MONDO:0013822 | acrodysostosis 2 with or without hormone resistance +BMGC_DS14691,BMG_DS055898,DOID:0110986 | OMIM ID:614571 | UMLS ID:C3553264 | OMIM ID:614615 | Joubert syndrome 17 | JOUBERT SYNDROME 17 | MONDO:0013824 +BMGC_DS14692,BMG_DS055899,congenital diarrhea 6 | DIARRHEA 6 | MONDO:0013825 | UMLS ID:C3553270 | OMIM ID:614616 | OMIM ID:601330 +BMGC_DS14693,BMG_DS055907,hyperekplexia 3 | MONDO:0013827 | HYPEREKPLEXIA 3 | UMLS ID:C3553288 | OMIM ID:614618 +BMGC_DS14694,BMG_DS055908,hyperekplexia 2 | OMIM ID:614619 | MONDO:0013828 | OMIM ID:138492 | HYPEREKPLEXIA 2 | UMLS ID:C3553291 +BMGC_DS14695,BMG_DS055909,MONDO:0013829 | OMIM ID:614621 | UV-sensitive syndrome 2 | UV-SENSITIVE SYNDROME 2 | OMIM ID:609412 | UMLS ID:C3553298 +BMGC_DS14696,BMG_DS055910,keratoconus 5 | UMLS ID:C3553302 | KERATOCONUS 5 | OMIM ID:614622 | MONDO:0013830 +BMGC_DS14697,BMG_DS055911,MONDO:0013831 | keratoconus 6 | UMLS ID:C3553306 | OMIM ID:614623 | KERATOCONUS 6 +BMGC_DS14698,BMG_DS055912,KERATOCONUS 8 | MONDO:0013832 | keratoconus 8 | UMLS ID:C3553307 | OMIM ID:614628 +BMGC_DS14699,BMG_DS055913,keratoconus 7 | OMIM ID:614629 | UMLS ID:C3553308 | KERATOCONUS 7 | MONDO:0013833 +BMGC_DS14700,BMG_DS055914,MONDO:0013834 | OMIM ID:614640 | UV-sensitive syndrome 3 | OMIM ID:614632 | UMLS ID:C3553328 | UV-SENSITIVE SYNDROME 3 +BMGC_DS14701,BMG_DS055915,"MONDO:0013835 | DOID:0111234 | congenital muscular dystrophy-dystroglycanopathy A7 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | OMIM ID:614643 | UMLS ID:C3553330 | OMIM ID:614631 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" +BMGC_DS14702,BMG_DS055916,"DOID:0070243 | OMIM ID:614650 | MONDO:0013836 | UMLS ID:C3553349 | OMIM ID:614647 | familial steroid-resistant nephrotic syndrome with sensorineural deafness | COENZYME Q10 DEFICIENCY, PRIMARY, 6 | primary coenzyme Q10 deficiency 6" +BMGC_DS14703,BMG_DS055917,"DOID:0070239 | UMLS ID:C3553354 | OMIM ID:614651 | MONDO:0013837 | primary coenzyme Q10 deficiency 2 | deafness-encephaloneuropathy-obesity-valvulopathy syndrome | OMIM ID:607429 | COENZYME Q10 DEFICIENCY, PRIMARY, 2" +BMGC_DS14704,BMG_DS055918,"OMIM ID:610564 | DOID:0070240 | MONDO:0013838 | COENZYME Q10 DEFICIENCY, PRIMARY, 3 | OMIM ID:614652 | UMLS ID:C3553358 | coenzyme Q10 deficiency, primary, 3 | primary coenzyme Q10 deficiency 3" +BMGC_DS14705,BMG_DS055919,"UMLS ID:C3553374 | COENZYME Q10 DEFICIENCY, PRIMARY, 5 | encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | OMIM ID:612837 | MONDO:0013840 | DOID:0070242 | OMIM ID:614654 | primary coenzyme Q10 deficiency 5" +BMGC_DS14706,BMG_DS055921,CORTISONE REDUCTASE DEFICIENCY 2 | cortisone reductase deficiency 2 | OMIM ID:600713 | MONDO:0013842 | OMIM ID:614662 | UMLS ID:C3553382 | DOID:0090140 +BMGC_DS14707,BMG_DS055923,"MONDO:0013844 | UMLS ID:C3553403 | stuttering, familial persistent, 4 | STUTTERING, FAMILIAL PERSISTENT, 4 | OMIM ID:614668" +BMGC_DS14708,BMG_DS055924,OMIM ID:600810 | AURICULOCONDYLAR SYNDROME 2A | auriculocondylar syndrome 2 | MONDO:0013845 | OMIM ID:614669 | UMLS ID:C3553404 +BMGC_DS14709,BMG_DS055926,UMLS ID:C3553407 | OMIM ID:614671 | MONDO:0013847 | CHROMOSOME 16p11.2 DUPLICATION SYNDROME | chromosome 16p11.2 duplication syndrome +BMGC_DS14710,BMG_DS055928,"dilated cardiomyopathy 2B | UMLS ID:C3553409 | MONDO:0013848 | OMIM ID:614672 | CARDIOMYOPATHY, DILATED, 2B | OMIM ID:614518" +BMGC_DS14711,BMG_DS055929,"OMIM ID:611423 | microcephaly 8, primary, autosomal recessive | UMLS ID:C3553414 | primary autosomal recessive microcephaly 8 | MONDO:0013849 | MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE | DOID:0070282 | OMIM ID:614673" +BMGC_DS14712,BMG_DS055930,Menstrual cycle dependent periodic fever (disorder) | menstrual cycle-dependent periodic fever | Luteal phase dependent periodic fever | SNOMEDCT ID:1169366007 | OMIM ID:614674 | Menstrual cycle dependent periodic fever | MONDO:0044660 | Menstrual cycle dependent febrile episode | Luteal phase dependent febrile episode | UMLS ID:C3553418 +BMGC_DS14713,BMG_DS055932,"DOID:0110311 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21 | OMIM ID:614676 | MONDO:0013852 | hypertrophic cardiomyopathy 21 | UMLS ID:C3553442" +BMGC_DS14714,BMG_DS055933,"PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | UMLS ID:C3553449 | pontocerebellar hypoplasia type 1B | OMIM ID:614678 | DOID:0060266 | MONDO:0013853 | OMIM ID:606489" +BMGC_DS14715,BMG_DS055934,Profound global developmental delay | OMIM ID:MTHU051054 | UMLS ID:C3553450 +BMGC_DS14716,BMG_DS055935,"OMIM ID:614680 | MONDO:0013855 | influenza, severe, susceptibility to | UMLS ID:C3553462" +BMGC_DS14717,BMG_DS055936,"HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITAL ABNORMALITIES, IMPAIRED INTELLECTUAL DEVELOPMENT, AND RECURRENT INFLAMMATORY EPISODES | hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes | MONDO:0013856 | UMLS ID:C3553465 | OMIM ID:614684" +BMGC_DS14718,BMG_DS055938,"MONDO:0013857 | ALAR CLEFT, ISOLATED | UMLS ID:C3553476 | OMIM ID:614687 | alar cleft, isolated" +BMGC_DS14719,BMG_DS055939,UMLS ID:C3553494 | OMIM ID:610345 | cataract 38 | CATARACT 38 | OMIM ID:614691 | MONDO:0013859 +BMGC_DS14720,BMG_DS055940,"MONDO:0013863 | combined immunodeficiency due to LRBA deficiency | OMIM ID:606453 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY | DOID:0081151 | OMIM ID:614700 | UMLS ID:C3553512 | common variable immunodeficiency 8" +BMGC_DS14721,BMG_DS055941,Cornelia de Lange syndrome 4 | MONDO:0013864 | OMIM ID:606462 | UMLS ID:C3553517 | CORNELIA DE LANGE SYNDROME 4 | OMIM ID:614701 +BMGC_DS14722,BMG_DS055942,OMIM ID:614707 | UMLS ID:C3553538 | MONDO:0013867 | Brown-Vialetto-van Laere syndrome 2 +BMGC_DS14723,BMG_DS055943,"POROKERATOSIS 7, MULTIPLE TYPES | OMIM ID:603236 | UMLS ID:C3553549 | OMIM ID:614714 | porokeratosis 7, multiple types | MONDO:0013868" +BMGC_DS14724,BMG_DS055944,UMLS ID:C3553571 | Congenital disorder of glycosylation type 2k | TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation | OMIM ID:614727 | Transmembrane protein 165 congenital disorder of glycosylation | TMEM165-congenital disorder of glycosylation | Congenital disorder of glycosylation type IIk | Carbohydrate deficient glycoprotein syndrome type 2k (disorder) | MONDO:0013870 | Carbohydrate deficient glycoprotein syndrome type 2k | SNOMEDCT ID:732252005 | Carbohydrate deficient glycoprotein syndrome type IIk +BMGC_DS14725,BMG_DS055945,UMLS ID:C3553582 | SECKEL SYNDROME 6 | OMIM ID:614724 | MONDO:0013871 | Seckel syndrome 6 | DOID:0070006 | OMIM ID:614728 +BMGC_DS14726,BMG_DS055946,GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY | glucocorticoid deficiency 4 | MONDO:0013874 | UMLS ID:C3553587 | OMIM ID:607878 | OMIM ID:614736 +BMGC_DS14727,BMG_DS055947,"basal cell carcinoma, susceptibility to, 7 | UMLS ID:C3553606 | MONDO:0013876 | OMIM ID:614740" +BMGC_DS14728,BMG_DS055948,MONDO:0013877 | Mitochondrial pyruvate carrier deficiency | Mitochondrial pyruvate carrier deficiency (disorder) | mitochondrial pyruvate carrier deficiency | OMIM ID:614741 | SNOMEDCT ID:1217212009 | UMLS ID:C3553607 +BMGC_DS14729,BMG_DS055949,"MONDO:0013878 | OMIM ID:187270 | OMIM ID:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 | UMLS ID:C3553617 | pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" +BMGC_DS14730,BMG_DS055950,"UMLS ID:C3553622 | MONDO:0013879 | OMIM ID:602322 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2 | pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | OMIM ID:614743" +BMGC_DS14731,BMG_DS055951,"OMIM ID:142968 | FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | UMLS ID:C3553625 | OMIM ID:614744 | facial paresis, hereditary congenital, 3 | MONDO:0013880" +BMGC_DS14732,BMG_DS055952,DOID:0070434 | OMIM ID:614730 | MONDO:0013882 | hyperphosphatasia with intellectual disability syndrome 2 | OMIM ID:614749 | hyperphosphatasia with impaired intellectual development syndrome 2 | UMLS ID:C3553637 | HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 +BMGC_DS14733,BMG_DS055953,"DOID:0110676 | congenital myasthenic syndrome 13 | OMIM ID:191350 | UMLS ID:C3553645 | MYASTHENIC SYNDROME, CONGENITAL, 13 | MONDO:0013883 | OMIM ID:614750" +BMGC_DS14734,BMG_DS055954,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 12 | MONDO:0013884 | neuronopathy, distal hereditary motor, type 5B | DOID:0111205 | autosomal dominant distal hereditary motor neuronopathy 12 | UMLS ID:C3553656 | OMIM ID:614751 | OMIM ID:609139" +BMGC_DS14735,BMG_DS055955,SNOMEDCT ID:763795006 | Malan overgrowth syndrome (disorder) | Malan overgrowth syndrome | OMIM ID:614753 | MONDO:0013885 | UMLS ID:C3553660 | Sotos syndrome 2 +BMGC_DS14736,BMG_DS055956,CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES | MONDO:0013886 | cerebellar dysfunction with variable cognitive and behavioral abnormalities | DOID:0050998 | nonprogressive cerebellar ataxia with mental retardation | OMIM ID:611501 | UMLS ID:C3553661 | OMIM ID:614756 +BMGC_DS14737,BMG_DS055957,"OMIM ID:614759 | MONDO:0013887 | OMIM ID:614779 | HETEROTAXY, VISCERAL, 6, AUTOSOMAL | UMLS ID:C3553676 | heterotaxy, visceral, 6, autosomal" +BMGC_DS14738,BMG_DS055958,DOID:0060209 | amyotrophic lateral sclerosis type 18 | OMIM ID:176610 | OMIM ID:614808 | AMYOTROPHIC LATERAL SCLEROSIS 18 | UMLS ID:C3553719 | MONDO:0013891 +BMGC_DS14739,BMG_DS055959,UMLS ID:C3553720 | C3 GLOMERULOPATHY 3 | OMIM ID:608593 | OMIM ID:614809 +BMGC_DS14740,BMG_DS055960,"MONDO:0013893 | multiple sclerosis, susceptibility to, 5 | UMLS ID:C3553728 | OMIM ID:614810" +BMGC_DS14741,BMG_DS055961,Adams-Oliver syndrome 3 | ADAMS-OLIVER SYNDROME 3 | OMIM ID:614814 | UMLS ID:C3553748 | MONDO:0013895 | OMIM ID:147183 +BMGC_DS14742,BMG_DS055962,OMIM ID:613847 | MONDO:0013896 | OMIM ID:614815 | Joubert syndrome 18 | UMLS ID:C3553758 | JOUBERT SYNDROME 18 | DOID:0110987 +BMGC_DS14743,BMG_DS055963,MONDO:0013897 | DOID:0070233 | OMIM ID:614816 | OMIM ID:190220 | Loeys-Dietz syndrome 4 | UMLS ID:C3553762 | LOEYS-DIETZ SYNDROME 4 +BMGC_DS14744,BMG_DS055964,"MONDO:0013898 | karyomegalic interstitial nephritis | OMIM ID:613534 | OMIM ID:614817 | INTERSTITIAL NEPHRITIS, KARYOMEGALIC | UMLS ID:C3553774" +BMGC_DS14745,BMG_DS055966,OMIM ID:614819 | OMIM ID:602091 | MONDO:0013899 | WEILL-MARCHESANI SYNDROME 3 | UMLS ID:C3553785 | Weill-Marchesani syndrome 3 +BMGC_DS14746,BMG_DS055967,alternating hemiplegia of childhood 2 | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 | MONDO:0013900 | UMLS ID:C3553788 | OMIM ID:614820 | OMIM ID:182350 +BMGC_DS14747,BMG_DS055968,spermatogenic failure 10 | DOID:0070178 | MONDO:0013901 | SPERMATOGENIC FAILURE 10 | OMIM ID:614822 | UMLS ID:C3553793 +BMGC_DS14748,BMG_DS055969,MONDO:0004983 | spermatogenic failure | UMLS ID:C3553794 +BMGC_DS14749,BMG_DS055970,"nystagmus 7, congenital, autosomal dominant | OMIM ID:614826 | NYSTAGMUS 7, CONGENITAL, AUTOSOMAL DOMINANT | MONDO:0013903 | DOID:0111791 | UMLS ID:C3553801 | congenital nystagmus 7" +BMGC_DS14750,BMG_DS055971,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | DOID:0111231 | MONDO:0013904 | UMLS ID:C3553813 | OMIM ID:614828 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | congenital muscular dystrophy-dystroglycanopathy type A8 | OMIM ID:614830" +BMGC_DS14751,BMG_DS055972,"autosomal recessive spinocerebellar ataxia 13 | OMIM ID:604473 | DOID:0080062 | UMLS ID:C3553816 | MONDO:0013905 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 | OMIM ID:614831" +BMGC_DS14752,BMG_DS055973,"UMLS ID:C3553830 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 | OMIM ID:614832 | OMIM ID:614829 | amelogenesis imperfecta hypomaturation type 2A4 | MONDO:0013906" +BMGC_DS14753,BMG_DS055974,"microcephalic primordial dwarfism due to RTTN deficiency | MONDO:0018764 | MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES | UMLS ID:C3553831 | OMIM ID:614833" +BMGC_DS14754,BMG_DS055977,MONDO:0013910 | OMIM ID:614837 | HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 8 with or without anosmia | UMLS ID:C3553841 +BMGC_DS14755,BMG_DS055978,HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 9 with or without anosmia | OMIM ID:614838 | UMLS ID:C3553842 | MONDO:0013911 +BMGC_DS14756,BMG_DS055979,UMLS ID:C3553843 | MONDO:0013912 | OMIM ID:162330 | hypogonadotropic hypogonadism 10 with or without anosmia | HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA | OMIM ID:614839 +BMGC_DS14757,BMG_DS055980,HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA | MONDO:0013913 | hypogonadotropic hypogonadism 11 with or without anosmia | UMLS ID:C3553844 | OMIM ID:614840 +BMGC_DS14758,BMG_DS055981,DOID:0111122 | Joubert syndrome 19 | JOUBERT SYNDROME 19 | nephronophthisis 14 | UMLS ID:C3553846 | OMIM ID:614844 | MONDO:0800363 | OMIM ID:604557 +BMGC_DS14759,BMG_DS055982,OMIM ID:614846 | UMLS ID:C3553858 | distal tetrasomy 15q | TETRASOMY 15q26 | MONDO:0013918 +BMGC_DS14760,BMG_DS055983,"epilepsy, idiopathic generalized, susceptibility to, 12 | MONDO:0013919 | OMIM ID:614847 | UMLS ID:C3553859" +BMGC_DS14761,BMG_DS055984,"UMLS ID:C3553868 | OMIM ID:614849 | herpes simplex encephalitis, susceptibility to, 3 | MONDO:0013920" +BMGC_DS14762,BMG_DS055985,"MONDO:0013921 | herpes simplex encephalitis, susceptibility to, 4 | UMLS ID:C3553869 | OMIM ID:614850" +BMGC_DS14763,BMG_DS055986,DOID:0070011 | SECKEL SYNDROME 7 | Seckel syndrome 7 | UMLS ID:C3553870 | MONDO:0013922 | OMIM ID:608684 | OMIM ID:614851 +BMGC_DS14764,BMG_DS055987,"DOID:0070292 | OMIM ID:613529 | UMLS ID:C3553886 | OMIM ID:614852 | MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE | primary autosomal recessive microcephaly 9 | MONDO:0013923 | microcephaly 9, primary, autosomal recessive" +BMGC_DS14765,BMG_DS055988,"osteogenesis imperfecta type 13 | OSTEOGENESIS IMPERFECTA, TYPE XIII | OMIM ID:614856 | OMIM ID:112264 | UMLS ID:C3553887 | MONDO:0013924" +BMGC_DS14766,BMG_DS055989,"UMLS ID:C3553915 | methylmalonic acidemia with homocystinuria, type cblJ | OMIM ID:614857 | MONDO:0013925" +BMGC_DS14767,BMG_DS055990,UMLS ID:C3553929 | MONDO:0013927 | OMIM ID:614859 | peroxisome biogenesis disorder 3A (Zellweger) +BMGC_DS14768,BMG_DS055991,"UMLS ID:C3553932 | DEAFNESS, AUTOSOMAL RECESSIVE 98 | autosomal recessive nonsyndromic hearing loss 98 | OMIM ID:614861 | OMIM ID:612920 | MONDO:0013929" +BMGC_DS14769,BMG_DS055992,peroxisome biogenesis disorder 4A (Zellweger) | OMIM ID:614862 | UMLS ID:C3553936 | MONDO:0013930 +BMGC_DS14770,BMG_DS055993,UMLS ID:C3553937 | Peroxisome biogenesis disorder 4B | MONDO:0013931 | PEROXISOME BIOGENESIS DISORDER 4B | DOID:0081433 | OMIM ID:614863 | OMIM ID:601498 | peroxisome biogenesis disorder 4B +BMGC_DS14771,BMG_DS055994,MONDO:0013932 | OMIM ID:614866 | UMLS ID:C3553940 | peroxisome biogenesis disorder 5A (Zellweger) +BMGC_DS14772,BMG_DS055995,"OMIM ID:614866 | DOID:0080480 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5 | UMLS ID:C3553941 | peroxisome biogenesis disorder 5A" +BMGC_DS14773,BMG_DS055996,"OMIM ID:614866 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10 | UMLS ID:C3553942 | DOID:0080480 | peroxisome biogenesis disorder 5A" +BMGC_DS14774,BMG_DS055997,OMIM ID:614868 | OMIM ID:604965 | combined immunodeficiency due to STK4 deficiency | IMMUNODEFICIENCY 110 WITH LYMPHOPROLIFERATION | UMLS ID:C3553943 | MONDO:0013934 +BMGC_DS14775,BMG_DS055998,"UMLS ID:C3553944 | USHER SYNDROME, TYPE IJ | OMIM ID:614869 | OMIM ID:605564 | Usher syndrome type 1J | MONDO:0013935" +BMGC_DS14776,BMG_DS055999,peroxisome biogenesis disorder 6A (Zellweger) | MONDO:0013936 | UMLS ID:C3553947 | OMIM ID:614870 +BMGC_DS14777,BMG_DS056000,MONDO:0013937 | peroxisome biogenesis disorder 6B | OMIM ID:614871 | UMLS ID:C3553948 +BMGC_DS14778,BMG_DS056001,"DOID:0080482 | OMIM ID:614872 | peroxisome biogenesis disorder 7A | UMLS ID:C3553950 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8" +BMGC_DS14779,BMG_DS056002,OMIM ID:614873 | UMLS ID:C3553951 | peroxisome biogenesis disorder 7B | MONDO:0013939 +BMGC_DS14780,BMG_DS056003,UMLS ID:C3553958 | METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA | MONDO:0013941 | metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | OMIM ID:614875 +BMGC_DS14781,BMG_DS056004,MONDO:0013942 | UMLS ID:C3553959 | OMIM ID:614876 | peroxisome biogenesis disorder 8A (Zellweger) +BMGC_DS14782,BMG_DS056005,peroxisome biogenesis disorder 8B | MONDO:0013943 | OMIM ID:614877 | UMLS ID:C3553960 +BMGC_DS14783,BMG_DS056006,"UMLS ID:C3553961 | DOID:0070615 | autoinflammation, antibody deficiency, and immune dysregulation syndrome | OMIM ID:614878 | autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | MONDO:0013944" +BMGC_DS14784,BMG_DS056007,MONDO:0013946 | hypogonadotropic hypogonadism 15 with or without anosmia | UMLS ID:C3553977 | HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA | OMIM ID:614880 +BMGC_DS14785,BMG_DS056010,OMIM ID:603164 | peroxisome biogenesis disorder 10A (Zellweger) | MONDO:0013948 | PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) | DOID:0080484 | peroxisome biogenesis disorder 10A | OMIM ID:614882 | UMLS ID:C3553999 +BMGC_DS14786,BMG_DS056011,OMIM ID:614883 | UMLS ID:C3554000 | OMIM ID:601789 | PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) | peroxisome biogenesis disorder 11A (Zellweger) | MONDO:0013949 | DOID:0080485 | peroxisome biogenesis disorder 11A +BMGC_DS14787,BMG_DS056012,OMIM ID:614885 | Peroxisome biogenesis disorder 11B | DOID:0081439 | OMIM ID:601789 | UMLS ID:C3554001 | MONDO:0013950 | PEROXISOME BIOGENESIS DISORDER 11B | peroxisome biogenesis disorder 11B +BMGC_DS14788,BMG_DS056013,OMIM ID:614886 | peroxisome biogenesis disorder 12A | PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) | DOID:0080486 | UMLS ID:C3554002 | OMIM ID:600279 | peroxisome biogenesis disorder 12A (Zellweger) | MONDO:0013951 +BMGC_DS14789,BMG_DS056014,MONDO:0013952 | OMIM ID:614887 | UMLS ID:C3554004 | peroxisome biogenesis disorder 13A (Zellweger) | OMIM ID:601791 | peroxisome biogenesis disorder 13A | PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) | DOID:0080487 +BMGC_DS14790,BMG_DS056015,MONDO:0013960 | SINOATRIAL NODE DYSFUNCTION AND DEAFNESS | OMIM ID:614896 | sinoatrial node dysfunction and deafness | OMIM ID:114206 | UMLS ID:C3554018 +BMGC_DS14791,BMG_DS056016,OMIM ID:614897 | UMLS ID:C3554021 | MONDO:0013961 | HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 16 with or without anosmia +BMGC_DS14792,BMG_DS056017,UMLS ID:C3554042 | DOID:0111892 | OMIM ID:603704 | MONDO:0013964 | DIAMOND-BLACKFAN ANEMIA 11 | OMIM ID:614900 | Diamond-Blackfan anemia 11 +BMGC_DS14793,BMG_DS056018,OMIM ID:160794 | OMIM ID:614915 | UMLS ID:C3554046 | MONDO:0013965 | lethal congenital contracture syndrome 4 | DOID:0060654 | LETHAL CONGENITAL CONTRACTURE SYNDROME 4 +BMGC_DS14794,BMG_DS056019,"MONDO:0013966 | OMIM ID:614916 | UMLS ID:C3554047 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 | catecholaminergic polymorphic ventricular tachycardia 4 | OMIM ID:114180" +BMGC_DS14795,BMG_DS056020,OMIM ID:603867 | MONDO:0013967 | peroxisome biogenesis disorder 14B | UMLS ID:C3554055 | OMIM ID:614920 | DOID:0081274 | PEROXISOME BIOGENESIS DISORDER 14B +BMGC_DS14796,BMG_DS056021,BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY | UMLS ID:C3554078 | MONDO:0013970 | branched-chain keto acid dehydrogenase kinase deficiency | OMIM ID:614923 +BMGC_DS14797,BMG_DS056022,PERRAULT SYNDROME 2 | OMIM ID:614926 | UMLS ID:C3554105 | MONDO:0013972 | OMIM ID:600783 | Perrault syndrome 2 +BMGC_DS14798,BMG_DS056023,"ectodermal dysplasia 5 | ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE | ectodermal dysplasia 5, hair/nail type | OMIM ID:614927 | DOID:0111657 | UMLS ID:C3554108 | MONDO:0013973" +BMGC_DS14799,BMG_DS056024,"ectodermal dysplasia 6 | OMIM ID:614928 | UMLS ID:C3554111 | ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE | MONDO:0013974 | ectodermal dysplasia 6, hair/nail type | DOID:0111659" +BMGC_DS14800,BMG_DS056025,"ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE | ectodermal dysplasia 7, hair/nail type | ectodermal dysplasia 7 | MONDO:0013975 | DOID:0111660 | OMIM ID:608248 | UMLS ID:C3554117 | OMIM ID:614929" +BMGC_DS14801,BMG_DS056026,"OMIM ID:614931 | UMLS ID:C3554127 | ectodermal dysplasia 9, hair/nail type | DOID:0111656 | ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE | ectodermal dysplasia 9 | MONDO:0013976 | OMIM ID:142976" +BMGC_DS14802,BMG_DS056027,"OMIM ID:614936 | UMLS ID:C3554145 | MONDO:0013980 | PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IB | palmoplantar keratoderma, punctate type ib" +BMGC_DS14803,BMG_DS056028,"OMIM ID:614944 | UMLS ID:C3554159 | MONDO:0013984 | autosomal recessive nonsyndromic hearing loss 84B | DEAFNESS, AUTOSOMAL RECESSIVE 84B | OMIM ID:614925" +BMGC_DS14804,BMG_DS056029,"OMIM ID:614945 | DEAFNESS, AUTOSOMAL RECESSIVE 18B | autosomal recessive nonsyndromic hearing loss 18B | UMLS ID:C3554163 | MONDO:0013985 | OMIM ID:604487" +BMGC_DS14805,BMG_DS056030,"congenital heart defects, multiple types, 3 | MONDO:0013988 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3 | UMLS ID:C3554194 | OMIM ID:614954" +BMGC_DS14806,BMG_DS056031,"UMLS ID:C3554195 | OMIM ID:614959 | developmental and epileptic encephalopathy, 14 | MONDO:0013989" +BMGC_DS14807,BMG_DS056032,MONDO:0013990 | Congenital pontocerebellar hypoplasia type 8 | Pontocerebellar hypoplasia due to CHMP1A (charged multivesicular body protein 1A) mutation | PCH8 - pontocerebellar hypoplasia type 8 | Pontocerebellar hypoplasia type 8 | UMLS ID:C3554209 | pontocerebellar hypoplasia type 8 | OMIM ID:614961 | Congenital pontocerebellar hypoplasia type 8 (disorder) | SNOMEDCT ID:718611007 +BMGC_DS14808,BMG_DS056033,DOID:0111334 | MONDO:0013991 | LEPTIN DEFICIENCY OR DYSFUNCTION | OMIM ID:614962 | congenital leptin deficiency | obesity due to congenital leptin deficiency | UMLS ID:C3554224 +BMGC_DS14809,BMG_DS056034,UMLS ID:C3554225 | OMIM ID:614963 | LEPTIN RECEPTOR DEFICIENCY | obesity due to leptin receptor gene deficiency | MONDO:0013992 | OMIM ID:601007 +BMGC_DS14810,BMG_DS056035,pontocerebellar hypoplasia type 7 | PCH7 - pontocerebellar hypoplasia type 7 | MONDO:0013993 | Congenital pontocerebellar hypoplasia type 7 | SNOMEDCT ID:718605009 | Congenital pontocerebellar hypoplasia type 7 (disorder) | OMIM ID:614969 | Pontocerebellar hypoplasia type 7 | UMLS ID:C3554226 +BMGC_DS14811,BMG_DS056036,Joubert syndrome 20 | DOID:0110989 | OMIM ID:614970 | JOUBERT SYNDROME 20 | OMIM ID:614949 | UMLS ID:C3554235 | MONDO:0013994 +BMGC_DS14812,BMG_DS056037,"DOID:0070229 | cholestasis, intrahepatic, of pregnancy, 3 | MONDO:0013995 | UMLS ID:C3554241 | intrahepatic cholestasis of pregnancy 3 | OMIM ID:614972 | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3" +BMGC_DS14813,BMG_DS056038,focal facial dermal dysplasia type II | Focal Facial Dermal Dysplasia 2 | Focal Facial Dermal Dysplasias | MeSH ID:D000090303 | MONDO:0013996 | UMLS ID:C3554245 | OMIM ID:614973 +BMGC_DS14814,BMG_DS056039,Focal Facial Dermal Dysplasias | MeSH ID:D000090303 | MONDO:0013997 | focal facial dermal dysplasia type IV | UMLS ID:C3554246 | OMIM ID:614974 | Focal Facial Dermal Dysplasia 4 +BMGC_DS14815,BMG_DS056040,MONDO:0013998 | UMLS ID:C3554247 | OMIM ID:604267 | MEGF8-related Carpenter syndrome | OMIM ID:614976 | CARPENTER SYNDROME 2 +BMGC_DS14816,BMG_DS056041,"congenital heart defects, multiple types, 2 | OMIM ID:614980 | UMLS ID:C3554279 | MONDO:0014000 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2" +BMGC_DS14817,BMG_DS056042,"autosomal dominant nocturnal frontal lobe epilepsy 5 | UMLS ID:C3554306 | EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 | OMIM ID:615005 | DOID:0060686 | OMIM ID:608167 | MONDO:0014002" +BMGC_DS14818,BMG_DS056043,"UMLS ID:C3554316 | developmental and epileptic encephalopathy, 15 | DOID:0080414 | developmental and epileptic encephalopathy 15 | OMIM ID:606494 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 | OMIM ID:615006 | MONDO:0014003" +BMGC_DS14819,BMG_DS056044,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 | OMIM ID:173410 | UMLS ID:C3554321 | basal ganglia calcification, idiopathic, 4 | OMIM ID:615007 | MONDO:0014004" +BMGC_DS14820,BMG_DS056045,"MONDO:0014005 | nephrotic syndrome type 7 | NEPHROTIC SYNDROME, TYPE 7 | DOID:0080388 | OMIM ID:615008 | immunoglobulin-mediated membranoproliferative glomerulonephritis | OMIM ID:601440 | UMLS ID:C3554330" +BMGC_DS14821,BMG_DS056046,Schuurs-Hoeijmakers syndrome | OMIM ID:615009 | MONDO:0014006 | UMLS ID:C3554343 +BMGC_DS14822,BMG_DS056047,phosphohydroxylysinuria | UMLS ID:C3554344 | MONDO:0014008 | OMIM ID:615011 +BMGC_DS14823,BMG_DS056048,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7 | MONDO:0014009 | autosomal recessive congenital ichthyosis 7 | UMLS ID:C3554348 | OMIM ID:615022" +BMGC_DS14824,BMG_DS056049,"OMIM ID:615023 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 | UMLS ID:C3554349 | MONDO:0014010 | OMIM ID:615276 | autosomal recessive congenital ichthyosis 9" +BMGC_DS14825,BMG_DS056050,"UMLS ID:C3554355 | OMIM ID:615024 | OMIM ID:612121 | MONDO:0014011 | autosomal recessive congenital ichthyosis 10 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10" +BMGC_DS14826,BMG_DS056051,"MONDO:0014012 | OMIM ID:615025 | Charcot-Marie-Tooth disease axonal type 2Q | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q | UMLS ID:C3554366 | OMIM ID:614984" +BMGC_DS14827,BMG_DS056052,"UMLS ID:C3554367 | OMIM ID:612878 | MONDO:0014014 | epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive | EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE | OMIM ID:615028" +BMGC_DS14828,BMG_DS056053,OMIM ID:610528 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY | MONDO:0014017 | UMLS ID:C3554373 | intellectual developmental disorder with autism and macrocephaly | OMIM ID:615032 +BMGC_DS14829,BMG_DS056054,SNOMEDCT ID:783179009 | Dystonia 24 | MONDO:0014019 | Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) | DYT24 - dystonia 24 | UMLS ID:C3554374 | Cranio-cervical dystonia with laryngeal and upper limb involvement | dystonia 24 | OMIM ID:615034 +BMGC_DS14830,BMG_DS056055,"UMLS ID:C3554381 | congenital muscular dystrophy-dystroglycanopathy type A10 | OMIM ID:615041 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | OMIM ID:605862 | MONDO:0014022 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 | DOID:0111239" +BMGC_DS14831,BMG_DS056056,"MONDO:0014025 | DOID:0081356 | OMIM ID:615048 | SPINAL MUSCULAR ATROPHY, JOKELA TYPE | OMIM ID:615903 | UMLS ID:C3554398 | spinal muscular atrophy, Jokela type | lower motor neuron syndrome with late-adult onset" +BMGC_DS14832,BMG_DS056057,"OMIM ID:615058 | OMIM ID:615004 | UMLS ID:C3554399 | congenital stationary night blindness 1F | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F | MONDO:0014026 | DOID:0110864" +BMGC_DS14833,BMG_DS056058,MONDO:0014027 | DOID:0110708 | HYPOTRICHOSIS 11 | UMLS ID:C3554409 | OMIM ID:615059 | OMIM ID:128260 | hypotrichosis 11 +BMGC_DS14834,BMG_DS056059,Distal arthrogryposis type 5D | DA5D - distal arthrogryposis type 5D | SNOMEDCT ID:773396009 | distal arthrogryposis type 5D | MONDO:0014028 | UMLS ID:C3554415 | Distal arthrogryposis type 5D (disorder) | Distal arthrogryposis type 5 without ophthalmoplegia | Distal arthrogryposis type 5 without ophthalmoparesis | OMIM ID:615065 +BMGC_DS14835,BMG_DS056060,"MONDO:0014029 | UMLS ID:C3554428 | OMIM ID:611236 | OSTEOGENESIS IMPERFECTA, TYPE XIV | osteogenesis imperfecta type 14 | OMIM ID:615066" +BMGC_DS14836,BMG_DS056061,"SNOMEDCT ID:770564004 | microcephalic primordial dwarfism, Alazami type | UMLS ID:C3554439 | Microcephalic primordial dwarfism Alazami type | Alazami syndrome | Microcephalic primordial dwarfism Alazami type (disorder) | MONDO:0014031 | OMIM ID:615071" +BMGC_DS14837,BMG_DS056062,"brachydactyly type A1C | OMIM ID:601146 | UMLS ID:C3554446 | BRACHYDACTYLY, TYPE A1, C | MONDO:0014032 | DOID:0110977 | OMIM ID:615072" +BMGC_DS14838,BMG_DS056063,GAND syndrome | UMLS ID:C3554448 | severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | OMIM ID:615074 | GAND SYNDROME | DOID:0070048 | MONDO:0014034 | OMIM ID:614998 +BMGC_DS14839,BMG_DS056064,OMIM ID:116806 | OMIM ID:615075 | NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS | autosomal dominant intellectual developmental disorder 19 | UMLS ID:C3554449 | DOID:0070049 | MONDO:0014035 | severe intellectual disability-progressive spastic diplegia syndrome +BMGC_DS14840,BMG_DS056065,OMIM ID:615080 | Alzheimer's disease 17 | ALZHEIMER DISEASE 17 | MONDO:0014036 | Alzheimer disease 17 | UMLS ID:C3554452 | DOID:0110049 +BMGC_DS14841,BMG_DS056066,UMLS ID:C3554453 | SPERMATOGENIC FAILURE 11 | OMIM ID:615081 | OMIM ID:608778 | DOID:0070180 | MONDO:0014037 | spermatogenic failure 11 +BMGC_DS14842,BMG_DS056067,"MONDO:0014038 | colorectal cancer, susceptibility to, 12 | OMIM ID:615083 | UMLS ID:C3554460" +BMGC_DS14843,BMG_DS056068,MONDO:0014039 | DOID:0080129 | OMIM ID:615076 | MITOCHONDRIAL DNA DEPLETION SYNDROME 11 | mitochondrial DNA depletion syndrome 11 | UMLS ID:C3554462 | OMIM ID:615084 +BMGC_DS14844,BMG_DS056069,"OMIM ID:614780 | DOID:0110940 | UMLS ID:C3554478 | autosomal recessive osteopetrosis 8 | OMIM ID:615085 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 | MONDO:0014040" +BMGC_DS14845,BMG_DS056070,"autism, susceptibility to, 19 | OMIM ID:615091 | UMLS ID:C3554495 | MONDO:0014041" +BMGC_DS14846,BMG_DS056071,left ventricular noncompaction 7 | OMIM ID:615092 | UMLS ID:C3554496 | LEFT VENTRICULAR NONCOMPACTION 7 | MONDO:0014042 | OMIM ID:608677 +BMGC_DS14847,BMG_DS056072,"OMIM ID:610827 | UMLS ID:C3554499 | primary autosomal recessive microcephaly 10 | OMIM ID:615095 | MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE | MONDO:0014043 | microcephalic primordial dwarfism due to ZNF335 deficiency | DOID:0070294" +BMGC_DS14848,BMG_DS056073,MONDO:0014046 | OMIM ID:615107 | COWDEN SYNDROME 4 | OMIM ID:612105 | Cowden syndrome 4 | UMLS ID:C3554517 | DOID:0081000 +BMGC_DS14849,BMG_DS056074,COWDEN SYNDROME 5 | Cowden syndrome 5 | OMIM ID:171834 | DOID:0081001 | UMLS ID:C3554518 | OMIM ID:615108 | MONDO:0014047 +BMGC_DS14850,BMG_DS056075,MONDO:0014048 | UMLS ID:C3554519 | COWDEN SYNDROME 6 | OMIM ID:615109 | Cowden syndrome 6 | OMIM ID:164730 | DOID:0081002 +BMGC_DS14851,BMG_DS056076,UMLS ID:C3554520 | MONDO:0014049 | urofacial syndrome 2 | OMIM ID:615112 | OMIM ID:608869 | UROFACIAL SYNDROME 2 +BMGC_DS14852,BMG_DS056077,"MICROPHTHALMIA, ISOLATED 8 | OMIM ID:600463 | MONDO:0014050 | UMLS ID:C3554524 | isolated microphthalmia 8 | OMIM ID:615113" +BMGC_DS14853,BMG_DS056078,"MONDO:0014051 | mitochondrial complex IV deficiency nuclear type 6 | OMIM ID:615119 | UMLS ID:C3554534 | DOID:0080358 | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 | cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" +BMGC_DS14854,BMG_DS056079,OMIM ID:615122 | lymphoproliferative syndrome 2 | UMLS ID:C3554540 | MONDO:0014054 | OMIM ID:186711 | LYMPHOPROLIFERATIVE SYNDROME 2 +BMGC_DS14855,BMG_DS056080,"epilepsy, familial adult myoclonic, 4 | familial adult myoclonic epilepsy 4 | DOID:0111693 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 | OMIM ID:613373 | MONDO:0014055 | OMIM ID:615127 | UMLS ID:C3554560" +BMGC_DS14856,BMG_DS056082,"melanoma, cutaneous malignant, susceptibility to, 9 | OMIM ID:615134 | UMLS ID:C3554574 | MONDO:0014056" +BMGC_DS14857,BMG_DS056083,"MONDO:0014057 | OMIM ID:615135 | UMLS ID:C3554575 | MAPLE SYRUP URINE DISEASE, MILD VARIANT | OMIM ID:611065 | maple syrup urine disease, mild variant" +BMGC_DS14858,BMG_DS056084,"MONDO:0014058 | UMLS ID:C3554576 | OMIM ID:174762 | OMIM ID:615139 | facial dysmorphism-immunodeficiency-livedo-short stature syndrome | FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE" +BMGC_DS14859,BMG_DS056086,"OMIM ID:615145 | MICROPHTHALMIA/COLOBOMA 9 | OMIM ID:610083 | UMLS ID:C3554592 | MONDO:0014059 | microphthalmia, isolated, with coloboma 9" +BMGC_DS14860,BMG_DS056087,"OMIM ID:615147 | OMIM ID:180250 | progressive retinal dystrophy due to retinol transport defect | UMLS ID:C3554593 | RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME | MONDO:0014060" +BMGC_DS14861,BMG_DS056088,"Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome | MONDO:0014061 | SNOMEDCT ID:1197589000 | Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) | OMIM ID:615155 | Steel syndrome | UMLS ID:C3554594" +BMGC_DS14862,BMG_DS056089,"mitochondrial DNA deletion syndrome with progressive myopathy | MONDO:0014062 | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 | OMIM ID:615156 | OMIM ID:601810 | DOID:0111519 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 | UMLS ID:C3554599" +BMGC_DS14863,BMG_DS056091,"mitochondrial complex III deficiency nuclear type 2 | MONDO:0014063 | UMLS ID:C3554605 | OMIM ID:613814 | OMIM ID:615157 | DOID:0060351 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2" +BMGC_DS14864,BMG_DS056092,"MONDO:0014064 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 | OMIM ID:191330 | mitochondrial complex III deficiency nuclear type 3 | OMIM ID:615158 | DOID:0080112 | UMLS ID:C3554606" +BMGC_DS14865,BMG_DS056093,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 | DOID:0080113 | MONDO:0014065 | mitochondrial complex III deficiency nuclear type 4 | OMIM ID:612080 | UMLS ID:C3554607 | OMIM ID:615159" +BMGC_DS14866,BMG_DS056094,"OMIM ID:615160 | mitochondrial complex III deficiency nuclear type 5 | OMIM ID:191329 | UMLS ID:C3554608 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 | MONDO:0014066 | DOID:0080114" +BMGC_DS14867,BMG_DS056095,MONDO:0014067 | OMIM ID:615162 | UMLS ID:C3554609 | short ulna-dysmorphism-hypotonia-intellectual disability syndrome +BMGC_DS14868,BMG_DS056096,OMIM ID:615163 | cone-rod dystrophy 17 | UMLS ID:C3554610 | CONE-ROD DYSTROPHY 17 | DOID:0111023 | MONDO:0014068 +BMGC_DS14869,BMG_DS056097,"MONDO:0014069 | OMIM ID:615170 | Synactyly, camptodactyly and clinodactyly of fifth fingers, bifid halluces syndrome | Wahab syndrome | SNOMEDCT ID:783553008 | 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" +BMGC_DS14870,BMG_DS056098,"OMIM ID:615181 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | MONDO:0014071 | OMIM ID:610194 | UMLS ID:C3554638 | DOID:0111230 | congenital muscular dystrophy-dystroglycanopathy type A11 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11" +BMGC_DS14871,BMG_DS056099,"MONDO:0014073 | CARDIOMYOPATHY, DILATED, 1II | UMLS ID:C3554649 | OMIM ID:615184 | OMIM ID:123590 | dilated cardiomyopathy 1II" +BMGC_DS14872,BMG_DS056100,"UMLS ID:C3554656 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 | MONDO:0014076 | autosomal recessive dyskeratosis congenita 5 | OMIM ID:615190 | dyskeratosis congenita, autosomal recessive 5 | DOID:0070022 | OMIM ID:608833" +BMGC_DS14873,BMG_DS056101,OMIM ID:615191 | DOID:0112230 | lissencephaly 5 | OMIM ID:150240 | MONDO:0014077 | cobblestone lissencephaly without muscular or ocular involvement | UMLS ID:C3554657 | LISSENCEPHALY 5 +BMGC_DS14874,BMG_DS056102,"platelet-type bleeding disorder 15 | MONDO:0014078 | UMLS ID:C3554663 | OMIM ID:615193 | DOID:0111053 | OMIM ID:102575 | BLEEDING DISORDER, PLATELET-TYPE, 15" +BMGC_DS14875,BMG_DS056104,MONDO:0014080 | Osteosclerotic metaphyseal dysplasia | osteosclerotic metaphyseal dysplasia | Osteosclerotic metaphyseal dysplasia (disorder) | SNOMEDCT ID:1237513008 | OMIM ID:615198 | UMLS ID:C3554665 +BMGC_DS14876,BMG_DS056105,UMLS ID:C3554686 | MONDO:0014081 | severe combined immunodeficiency due to CARD11 deficiency | IMMUNODEFICIENCY 11 | immunodeficiency 11A | DOID:0111957 | OMIM ID:615206 +BMGC_DS14877,BMG_DS056106,DOID:0111982 | IMMUNODEFICIENCY 56 | UMLS ID:C3554687 | OMIM ID:605383 | immunodeficiency 56 | cryptosporidiosis-chronic cholangitis-liver disease syndrome | OMIM ID:615207 | MONDO:0014082 +BMGC_DS14878,BMG_DS056107,"AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE | OMIM ID:615214 | agammaglobulinemia 7 | OMIM ID:171833 | DOID:0081139 | MONDO:0014083 | UMLS ID:C3554689 | agammaglobulinemia 7, autosomal recessive" +BMGC_DS14879,BMG_DS056108,ATAXIA-OCULOMOTOR APRAXIA 3 | UMLS ID:C3554690 | MONDO:0014084 | OMIM ID:611317 | ataxia with oculomotor apraxia type 3 | OMIM ID:615217 | DOID:0060557 +BMGC_DS14880,BMG_DS056109,"MONDO:0014085 | UMLS ID:C3554691 | hydrocephalus, nonsyndromic, autosomal recessive 2 | OMIM ID:615219 | HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES" +BMGC_DS14881,BMG_DS056111,"Tyshchenko syndrome | Facial dysmorphism, conductive hearing loss, heart defect syndrome | MONDO:0014044 | dysmorphism-conductive hearing loss-heart defect syndrome | OMIM ID:615102 | Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder) | SNOMEDCT ID:763279007 | UMLS ID:C3554774 | Dysmorphism, conductive hearing loss, heart defect syndrome" +BMGC_DS14882,BMG_DS056113,complete atrioventricular canal-tetralogy of fallot syndrome | MONDO:0020408 | UMLS ID:C3640086 +BMGC_DS14883,BMG_DS056116,UMLS ID:C3642318 | posteroinferior myocardial infarction | DOID:5843 +BMGC_DS14884,BMG_DS056117,DOID:5848 | MONDO:0003673 | apical myocardial infarction | UMLS ID:C3642319 +BMGC_DS14885,BMG_DS056119,MONDO:0003030 | DOID:4520 | UMLS ID:C3642326 | cervical endometrial stromal sarcoma | endometrioid stromal sarcoma of the cervix +BMGC_DS14886,BMG_DS056120,vaginal endometrial stromal sarcoma | endometrioid stromal sarcoma of the vagina | DOID:5170 | MONDO:0003313 | UMLS ID:C3642329 +BMGC_DS14887,BMG_DS056122,UMLS ID:C3642345 | DOID:0060548 | luminal A breast carcinoma | luminal breast carcinoma A | MONDO:0021116 +BMGC_DS14888,BMG_DS056123,luminal breast carcinoma B | MONDO:0021115 | UMLS ID:C3642346 | luminal B breast carcinoma | DOID:0080674 +BMGC_DS14889,BMG_DS056125,UMLS ID:C3642463 | DOID:5851 | posterolateral myocardial infarction +BMGC_DS14890,BMG_DS056127,DOID:5849 | UMLS ID:C3642476 | subendocardial myocardial infarction +BMGC_DS14891,BMG_DS056128,"Autosomal Recessive Centronuclear Myopathy | Myopathies, Structural, Congenital | MONDO:0015705 | UMLS ID:C3645536 | autosomal recessive centronuclear myopathy | MeSH ID:D020914" +BMGC_DS14892,BMG_DS056129,MeSH ID:D010022 | UMLS ID:C3645711 | Congenital Osteopetrosis | Osteopetrosis +BMGC_DS14893,BMG_DS056153,UMLS ID:C3658290 | Chemical and Drug Induced Liver Injury | Drug-Induced Acute Liver Injury | MeSH ID:D056486 +BMGC_DS14894,BMG_DS056154,Antithrombin III Deficiency | MeSH ID:D020152 | Hereditary Antithrombin Deficiency | UMLS ID:C3658294 +BMGC_DS14895,BMG_DS056155,MeSH ID:D015211 | Zellweger Syndrome | Zellweger Spectrum | UMLS ID:C3658299 +BMGC_DS14896,BMG_DS056156,Stevens-Johnson Syndrome | UMLS ID:C3658301 | MeSH ID:D013262 | Mycoplasma-Induced Stevens-Johnson Syndrome +BMGC_DS14897,BMG_DS056157,Stevens-Johnson Syndrome | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | MeSH ID:D013262 | UMLS ID:C3658302 +BMGC_DS14898,BMG_DS056164,MeSH ID:D063647 | UMLS ID:C3661483 | Partial Fetal Alcohol Syndrome | Fetal Alcohol Spectrum Disorders | partial fetal alcohol syndrome | MONDO:0000393 +BMGC_DS14899,BMG_DS056165,"Autosomal Dominant Myotubular Myopathy | Myopathies, Structural, Congenital | MeSH ID:D020914 | UMLS ID:C3661489" +BMGC_DS14900,BMG_DS056166,"UMLS ID:C3661519 | Hereditary Motor Neuronopathy | Muscular Atrophy, Spinal | MeSH ID:D009134" +BMGC_DS14901,BMG_DS056167,UMLS ID:C3661523 | MeSH ID:D006627 | Congenital Intestinal Aganglionosis | Hirschsprung Disease +BMGC_DS14902,BMG_DS056168,"UMLS ID:C3661525 | MeSH ID:D006105 | Granulomatous Disease, Chronic | Autosomal Recessive Chronic Granulomatous Disease" +BMGC_DS14903,BMG_DS056207,SNOMEDCT ID:434711000124103 | Perioperative hypertension (disorder) | Perioperative hypertension | UMLS ID:C3661921 +BMGC_DS14904,BMG_DS056210,Dyslipidemia due to type 2 diabetes mellitus | Dyslipidemia due to type 2 diabetes mellitus (disorder) | Diabetic dyslipidemia associated with type 2 diabetes mellitus | Dyslipidemia associated with type II diabetes mellitus | SNOMEDCT ID:761000119102 | UMLS ID:C3661933 +BMGC_DS14905,BMG_DS056232,UMLS ID:C3661995 | Peroneal Nerve Entrapment | MeSH ID:D020427 | Peroneal Neuropathies +BMGC_DS14906,BMG_DS056240,MeSH ID:D020425 | UMLS ID:C3662011 | Radial Nerve Entrapment | Radial Neuropathy +BMGC_DS14907,BMG_DS056250,Chronic renal impairment due to type 2 diabetes mellitus | Chronic kidney disease due to type 2 diabetes mellitus | Diabetic chronic renal impairment due to type 2 diabetes mellitus | SNOMEDCT ID:771000119108 | Chronic kidney disease due to type 2 diabetes mellitus (disorder) | UMLS ID:C3662038 | Chronic renal impairment due to type II diabetes mellitus +BMGC_DS14908,BMG_DS056286,SNOMEDCT ID:609536007 | Non-allergic hypersensitivity to dextran | UMLS ID:C3662114 | Non-allergic hypersensitivity to dextran (finding) | Nonallergic hypersensitivity to dextran | Pseudoallergy to dextran | Dextran pseudoallergy +BMGC_DS14909,BMG_DS056363,Primary hypertrophic cardiomyopathy (disorder) | SNOMEDCT ID:15471000 | Hypertrophic cardiomyopathy (disorder) | UMLS ID:C3665332 | Hypertrophic cardiomyopathy | HCM - Hypertrophic cardiomyopathy | SNOMEDCT ID:700065003 | SNOMEDCT ID:233873004 | Primary hypertrophic cardiomyopathy +BMGC_DS14910,BMG_DS056364,MeSH ID:C580224 | MONDO:0018781 | Keratitis-Ichthyosis-Deafness Syndrome | KID syndrome | UMLS ID:C3665333 +BMGC_DS14911,BMG_DS056367,DOID:0050795 | Cone Dystrophy | Progressive Cone Dystrophy | cone dystrophy | MeSH ID:D000077765 | UMLS ID:C3665342 +BMGC_DS14912,BMG_DS056368,Secondary hypothyroidism (disorder) | Secondary hypothyroidism | UMLS ID:C3665349 | Pituitary hypothyroidism | TSH (thyroid stimulating hormone) deficiency | SNOMEDCT ID:82598004 | Hypothyrotropic hypothyroidism +BMGC_DS14913,BMG_DS056369,Galactorrhoea (disorder) | Galactorrhoea | UMLS ID:C3665358 | MONDO:0009256 | MeSH ID:D005687 | Galactorrhea | SNOMEDCT ID:155965001 | galactorrhea +BMGC_DS14914,BMG_DS056370,"Arteriosclerotic cardiovascular disease, NOS | SNOMEDCT ID:39468009 | Cardiovascular arteriosclerosis | UMLS ID:C3665365 | DOID:2348 | ASCVD | arteriosclerotic cardiovascular disease | Cardiovascular disease with arteriosclerosis | Arteriosclerotic cardiovascular disease | Arteriosclerotic cardiovascular disease (disorder) | Cardiovascular degeneration with arteriosclerosis | Cardiovascular sclerosis with arteriosclerosis" +BMGC_DS14915,BMG_DS056372,"adenine phosphoribosyltransferase deficiency | DOID:0060350 | UMLS ID:C3665382 | 2,8-Dihydroxyadenine Urolithiasis | MeSH ID:C538228" +BMGC_DS14916,BMG_DS056375,MONDO:0018023 | Hemoglobin M Disease | OMIM ID:617971 | MeSH ID:C581942 | hemoglobin M disease | UMLS ID:C3665425 +BMGC_DS14917,BMG_DS056382,"OMIM ID:165800 | short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | UMLS ID:C3665488 | Familial Osteochondritis Dissecans | MeSH ID:C580095 | MONDO:0100462" +BMGC_DS14918,BMG_DS056387,UMLS ID:C3665596 | MONDO:0001209 | common wart | OMIM ID:MTHU062503 | MeSH ID:D014860 | Warts +BMGC_DS14919,BMG_DS056391,uveal cancer | MONDO:0002659 | UMLS ID:C3665670 | DOID:3479 +BMGC_DS14920,BMG_DS056392,"Chronic familial neutropaenia | neutropenia, chronic familial | OMIM ID:162700 | UMLS ID:C3665676 | Chronic familial neutropenia | Benign familial neutropenia | Chronic familial neutropenia (disorder) | Benign familial neutropaenia | SNOMEDCT ID:234576008 | MONDO:0008089" +BMGC_DS14921,BMG_DS056393,UMLS ID:C3665704 | CRIE - Congenital reticular ichthyosiform erythroderma | congenital reticular ichthyosiform erythroderma | OMIM ID:609165 | SNOMEDCT ID:703504006 | Congenital reticular ichthyosiform erythroderma (disorder) | Congenital reticular ichthyosiform erythroderma | Ichthyosis with confetti | MONDO:0012208 | Ichthyosis variegata +BMGC_DS14922,BMG_DS056401,"Luteinizing Hormone Resistance, Female | MeSH ID:C562567 | DOID:0112259 | UMLS ID:C3668935 | Leydig cell hypoplasia" +BMGC_DS14923,BMG_DS056402,MeSH ID:C580047 | MONDO:0010542 | Dmd-Associated Dilated Cardiomyopathy | UMLS ID:C3668940 | dilated cardiomyopathy 3B | DOID:0110461 | X-linked dilated cardiomyopathy | OMIM ID:302045 +BMGC_DS14924,BMG_DS056403,MONDO:0007168 | OMIM ID:108721 | atelosteogenesis type III | UMLS ID:C3668942 +BMGC_DS14925,BMG_DS056404,fatty acid hydroxylase-associated neurodegeneration | Fatty Acid Hydroxylase-Associated Neurodegeneration | UMLS ID:C3668943 | MONDO:0017999 | MeSH ID:C580102 +BMGC_DS14926,BMG_DS056406,UMLS ID:C3669121 | 11-Beta-hydroxylase deficiency | MeSH ID:C535978 +BMGC_DS14927,BMG_DS056407,UMLS ID:C3669122 | MeSH ID:C535830 | 5-Alpha Reductase Deficiency +BMGC_DS14928,BMG_DS056411,DOID:0060292 | OMIM ID:302950 | MeSH ID:C580533 | X-Linked Chondrodysplasia Punctata 1 | MONDO:0010555 | X-linked chondrodysplasia punctata 1 | UMLS ID:C3669395 +BMGC_DS14929,BMG_DS056421,MeSH ID:C536227 | Cyclic Hematopoesis | UMLS ID:C3671688 +BMGC_DS14930,BMG_DS056424,Autosomal Recessive Cerebellar Ataxia Type 1 | MeSH ID:C579934 | UMLS ID:C3683483 +BMGC_DS14931,BMG_DS056429,OMIM ID:607907 | UMLS ID:C3693482 | dermatofibrosarcoma protuberans | MONDO:0011934 +BMGC_DS14932,BMG_DS056431,UMLS ID:C3694279 | Middle East Respiratory Syndrome | Coronavinae infectious disease | MONDO:0100116;MONDO:0005719 | Coronavirus Infections | MeSH ID:D018352 | Middle East respiratory syndrome +BMGC_DS14933,BMG_DS056432,OMIM ID:306000 | UMLS ID:C3694531 | GLYCOGEN STORAGE DISEASE IXa1 | glycogen storage disease IXa1 | MONDO:0010598 +BMGC_DS14934,BMG_DS056436,UMLS ID:C3695063 | SNOMEDCT ID:763345008 | MONDO:0014117 | Charcot-Marie-Tooth disease type 4B3 (disorder) | Charcot-Marie-Tooth disease with focally folded myelin | Charcot-Marie-Tooth disease type 4B3 | OMIM ID:615284 +BMGC_DS14935,BMG_DS056440,UMLS ID:C3696376 | 3-methylglutaconic aciduria | MeSH ID:C579867 | 3-Methylglutaconic Aciduria | DOID:0060336 | MONDO:0017359 +BMGC_DS14936,BMG_DS056480,Autosomal Dominant Nocturnal Frontal Lobe Epilepsy | MONDO:0020300 | DOID:0060681 | MeSH ID:C579932 | UMLS ID:C3696898 | autosomal dominant nocturnal frontal lobe epilepsy +BMGC_DS14937,BMG_DS056495,UMLS ID:C3697010 | SNOMEDCT ID:697969008 | Ulcerative colitis in remission (disorder) | Ulcerative colitis in remission +BMGC_DS14938,BMG_DS056499,Acute exacerbation of chronic congestive heart failure (disorder) | UMLS ID:C3697063 | Acute on chronic congestive heart failure | SNOMEDCT ID:698296002 | Acute exacerbation of chronic congestive heart failure +BMGC_DS14939,BMG_DS056505,SNOMEDCT ID:697905000 | Pulmonary arterial hypertension associated with congenital heart disease (disorder) | Pulmonary arterial hypertension associated with congenital heart disease | UMLS ID:C3697119 +BMGC_DS14940,BMG_DS056557,Non-specific intraventricular conduction delay (disorder) | Non-specific intraventricular conduction delay | Nonspecific intraventricular conduction disorder | Non-specific intraventricular conduction defect | SNOMEDCT ID:698252002 | UMLS ID:C3697597 +BMGC_DS14941,BMG_DS056670,Anti-D isoimmunisation affecting pregnancy | UMLS ID:C3698348 | Anti-D isoimmunization affecting pregnancy (disorder) | SNOMEDCT ID:699950009 | Anti-D isoimmunization affecting pregnancy +BMGC_DS14942,BMG_DS056671,SNOMEDCT ID:697909006 | UMLS ID:C3698354 | Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis | MONDO:0018554 | pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis | Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis | Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (disorder) +BMGC_DS14943,BMG_DS056708,porencephaly | UMLS ID:C3698507 | DOID:0060263 +BMGC_DS14944,BMG_DS056715,"Ohdo syndrome, Maat-Kievit-Brunner type | MONDO:0010477 | UMLS ID:C3698541 | Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder) | Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type | OMIM ID:300895 | Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type | X-linked Ohdo syndrome | blepharophimosis - intellectual disability syndrome, MKB type | SNOMEDCT ID:699297004" +BMGC_DS14945,BMG_DS056721,MeSH ID:C579969 | Cap Myopathy | UMLS ID:C3710589 | MONDO:0015753 | cap myopathy +BMGC_DS14946,BMG_DS056723,mitochondrial DNA depletion syndrome 8b | Mitochondrial DNA Depletion Syndrome 8A | UMLS ID:C3711125 | DOID:0080127;DOID:0070331;DOID:0080119 | MeSH ID:C536350 | mitochondrial DNA depletion syndrome 1 | mitochondrial DNA depletion syndrome 8a +BMGC_DS14947,BMG_DS056725,Metatropic Dysplasia Type 1 | MeSH ID:C537356 | UMLS ID:C3711162 +BMGC_DS14948,BMG_DS056726,UMLS ID:C3711368 | MONDO:0012580 | Surfactant Dysfunction | hereditary pulmonary alveolar proteinosis | MeSH ID:C580477 +BMGC_DS14949,BMG_DS056727,Succinate-Coa Ligase Deficiency | MeSH ID:C580473 | DOID:0080128 | mitochondrial DNA depletion syndrome 9 | UMLS ID:C3711369 +BMGC_DS14950,BMG_DS056728,UMLS ID:C3711370 | Spastic Paraplegia Type 7 | MeSH ID:C580457 +BMGC_DS14951,BMG_DS056730,nonsyndromic deafness | Nonsyndromic Deafness | DOID:0050563 | MeSH ID:C580334 | UMLS ID:C3711374 +BMGC_DS14952,BMG_DS056731,MONDO:0018027 | Isodicentric Chromosome 15 Syndrome | UMLS ID:C3711376 | duplication/inversion 15q11 | MeSH ID:C580205 +BMGC_DS14953,BMG_DS056732,MeSH ID:C580202 | UMLS ID:C3711377 | Intranuclear Rod Myopathy +BMGC_DS14954,BMG_DS056734,MONDO:0015548 | MeSH ID:C580174 | Huntington disease-like syndrome | Huntington Disease-Like Syndrome | UMLS ID:C3711380 +BMGC_DS14955,BMG_DS056735,"MeSH ID:C580150 | leukoencephalopathy, hereditary diffuse, with spheroids | UMLS ID:C3711381 | MONDO:0030796 | Hereditary Diffuse Leukoencephalopathy with Spheroids" +BMGC_DS14956,BMG_DS056737,"autosomal dominant distal hereditary motor neuronopathy 2 | MeSH ID:C580044 | DOID:0111206 | distal hereditary motor neuropathy type 2 | Distal Hereditary Motor Neuropathy, Type II | UMLS ID:C3711384 | MONDO:0015352" +BMGC_DS14957,BMG_DS056738,"MeSH ID:C580039 | Deoxyguanosine Kinase Deficiency | UMLS ID:C3711385 | mitochondrial DNA depletion syndrome 3 | DOID:0080121 | MONDO:0100512 | mitochondrial DNA depletion syndrome, hepatocerebral form" +BMGC_DS14958,BMG_DS056740,UMLS ID:C3711387 | MONDO:0016660 | autosomal recessive primary microcephaly | MeSH ID:C579935 | Autosomal Recessive Primary Microcephaly +BMGC_DS14959,BMG_DS056742,"MONDO:0008070 | Actin-Accumulation Myopathy | congenital myopathy 2a, typical, autosomal dominant | OMIM ID:161800 | UMLS ID:C3711389 | MeSH ID:C579880" +BMGC_DS14960,BMG_DS056743,9q22.3 Microdeletion | monosomy 9q22.3 | MONDO:0019179 | UMLS ID:C3711390 | MeSH ID:C579873 +BMGC_DS14961,BMG_DS056745,"MeSH ID:C538394 | Hdl Deficiency, Type 2 | UMLS ID:C3711531" +BMGC_DS14962,BMG_DS056746,UMLS ID:C3711543 | MeSH ID:C536122 | X-Linked Csnb +BMGC_DS14963,BMG_DS056750,Mitochondrial trifunctional protein deficiency (disorder) | Mitochondrial trifunctional protein deficiency | long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | UMLS ID:C3711645 | OMIM ID:609016 | SNOMEDCT ID:237999008 | Trifunctional protein deficiency | Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | LCHADD - long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | Human trifunctional protein deficiency | MONDO:0012173 | Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | SNOMEDCT ID:726021008 | Trifunctional enzyme deficiency +BMGC_DS14964,BMG_DS056754,MeSH ID:C580087 | UMLS ID:C3713420 | Familial Hyperaldosteronism | MONDO:0016525 | familial hyperaldosteronism +BMGC_DS14965,BMG_DS056755,Childhood Myocerebrohepatopathy Spectrum | MeSH ID:C579990 | UMLS ID:C3713421 +BMGC_DS14966,BMG_DS056757,"46,XY Disorder of Sex Development Due To LH Defects | UMLS ID:C3714042 | MeSH ID:C562567 | DOID:0112259 | Leydig cell hypoplasia" +BMGC_DS14967,BMG_DS056758,Chromosome Xq28 trisomy (disorder) | UMLS ID:C3714043 | Trisomy Xq28 | SNOMEDCT ID:719909009 | MeSH ID:C537723 | Chromosome Xq28 trisomy +BMGC_DS14968,BMG_DS056759,"UMLS ID:C3714208 | Blepharophimosis, Ptosis, and Epicanthus Inversus Type II | MeSH ID:C562419" +BMGC_DS14969,BMG_DS056760,"Trifunctional Protein Deficiency, Type 2 | UMLS ID:C3714237 | MeSH ID:C566945" +BMGC_DS14970,BMG_DS056761,UMLS ID:C3714239 | juvenile polyposis syndrome | MeSH ID:C537702 | DOID:0050787 | Bmpr1a-Related Juvenile Polyposis +BMGC_DS14971,BMG_DS056762,UMLS ID:C3714240 | MeSH ID:C537702 | Smad4-Related Juvenile Polyposis | DOID:0050787 | juvenile polyposis syndrome +BMGC_DS14972,BMG_DS056772,"UMLS ID:C3714506 | MONDO:0009571 | OMIM ID:249000 | Meckel syndrome, type 1 | MeSH ID:C536133 | Meckel syndrome type 1" +BMGC_DS14973,BMG_DS056773,nutritional disorder | UMLS ID:C3714509 | MeSH ID:D009748 | Nutrition Disorders | MONDO:0005137 | nutrition disease | DOID:374 +BMGC_DS14974,BMG_DS056776,MONDO:0019202 | myxofibrosarcoma | UMLS ID:C3714524 +BMGC_DS14975,BMG_DS056777,MONDO:0008371 | Dowling-Degos disease | UMLS ID:C3714534 | DOID:0060256 +BMGC_DS14976,BMG_DS056779,"UMLS ID:C3714580 | MONDO:0042979 | OMIM ID:170400 | hypokalemic periodic paralysis, type 1" +BMGC_DS14977,BMG_DS056780,multicystic dysplastic kidney | UMLS ID:C3714581 | MeSH ID:D021782 | Multicystic Dysplastic Kidney | MONDO:0015988 +BMGC_DS14978,BMG_DS056783,Hyperthyroidism | MeSH ID:D006980 | hyperthyroidism | UMLS ID:C3714618 | DOID:7998 | Primary Hyperthyroidism +BMGC_DS14979,BMG_DS056786,UMLS ID:C3714636 | MONDO:0043905 | pneumonitis | MeSH ID:D011014 | OMIM ID:MTHU065027 | Pneumonia | Pneumonitis (disorder) | SNOMEDCT ID:205237003 | Pneumonitis +BMGC_DS14980,BMG_DS056787,UMLS ID:C3714644 | MONDO:0005197 | thymus neoplasm +BMGC_DS14981,BMG_DS056791,mesothelial neoplasm | UMLS ID:C3714739 | MONDO:0006856 +BMGC_DS14982,BMG_DS056793,"MONDO:0010725 | UMLS ID:C3714753 | X-linked retinoschisis | OMIM ID:300839 | OMIM ID:312700 | RETINOSCHISIS 1, X-LINKED, JUVENILE" +BMGC_DS14983,BMG_DS056794,UMLS ID:C3714756 | intellectual disability | MONDO:0001071 +BMGC_DS14984,BMG_DS056795,Polyarticular juvenile rheumatoid arthritis (disorder) | Polyarticular juvenile rheumatoid arthritis | Juvenile rheumatoid arthritis (disorder) | Still's disease | SNOMEDCT ID:268052008 | SNOMEDCT ID:201808003 | SNOMEDCT ID:239801005 | Juvenile seropositive arthritis | Juvenile rheumatoid arthritis | Juvenile rheumatoid a. | Juvenile rheumatoid arthritis &/or Still's disease | SNOMEDCT ID:86119004 | Juvenile rheumatoid arthritis &/or Still's disease (disorder) | SNOMEDCT ID:156483006 | UMLS ID:C3714757 | SNOMEDCT ID:410795001 | JRA - Juvenile rheumatoid arthritis | Still's disease - juvenile R.A +BMGC_DS14985,BMG_DS056796,Juvenile psoriatic arthritis | MONDO:0019436 | UMLS ID:C3714758 | SNOMEDCT ID:239802003 | psoriasis-related juvenile idiopathic arthritis | Juvenile psoriatic arthritis (disorder) +BMGC_DS14986,BMG_DS056797,UMLS ID:C3714760 | Drug-induced tardive dyskinesia | TD - Tardive dyskinesia | Tardive dyskinesia | SNOMEDCT ID:102449007 | Tardive dyskinesia (disorder) +BMGC_DS14987,BMG_DS056799,"UMLS ID:C3714844 | Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | Familial Primary Pulmonary Hypertension | MeSH ID:D065627" +BMGC_DS14988,BMG_DS056800,"Axenfeld-Rieger syndrome type 1 | Axenfeld-Rieger Syndrome, Type 1 | UMLS ID:C3714873 | OMIM ID:180500 | MONDO:0008386 | MeSH ID:C535679" +BMGC_DS14989,BMG_DS056801,DOID:0081271 | SMITH-MCCORT DYSPLASIA 2 | Smith-McCort dysplasia 2 | UMLS ID:C3714896 | MONDO:0014087 | OMIM ID:605950 | OMIM ID:615222 +BMGC_DS14990,BMG_DS056802,"SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 57 | OMIM ID:602498 | OMIM ID:615658 | UMLS ID:C3714897 | MONDO:0014295" +BMGC_DS14991,BMG_DS056803,"UMLS ID:C3714899 | OMIM ID:602991 | SYMPHALANGISM, PROXIMAL, 1A | proximal symphalangism 1A | MONDO:0020733 | OMIM ID:185800 | proximal symphalangism 1 | DOID:0080787" +BMGC_DS14992,BMG_DS056804,"multiple system atrophy 1, susceptibility to | UMLS ID:C3714927 | OMIM ID:146500 | MONDO:0020715" +BMGC_DS14993,BMG_DS056805,UMLS ID:C3714933 | OMIM ID:615511 | myopathy due to myoadenylate deaminase deficiency | MONDO:0014220 | OMIM ID:102770 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY +BMGC_DS14994,BMG_DS056806,"myofibrillar myopathy 3 | MYOPATHY, MYOFIBRILLAR, 3 | MONDO:0012215 | OMIM ID:609200 | OMIM ID:159000 | OMIM ID:604103 | OMIM ID:182920 | UMLS ID:C3714934" +BMGC_DS14995,BMG_DS056807,OMIM ID:166780 | otofaciocervical syndrome 1 | UMLS ID:C3714941 | OMIM ID:601653 | MONDO:0024532 | OTOFACIOCERVICAL SYNDROME 1 +BMGC_DS14996,BMG_DS056808,OTOFACIOCERVICAL SYNDROME 2 | OMIM ID:167411 | UMLS ID:C3714942 +BMGC_DS14997,BMG_DS056809,OMIM ID:615726 | UMLS ID:C3714948 | OMIM ID:148041 | PACHYONYCHIA CONGENITA 3 | pachyonychia congenita 3 | MONDO:0014324 +BMGC_DS14998,BMG_DS056810,OMIM ID:615728 | MONDO:0014325 | PACHYONYCHIA CONGENITA 4 | OMIM ID:148042 | pachyonychia congenita 4 | UMLS ID:C3714949 +BMGC_DS14999,BMG_DS056811,"UMLS ID:C3714958 | MONDO:0014151 | pulmonary hypertension, neonatal, susceptibility to | OMIM ID:615371" +BMGC_DS15000,BMG_DS056812,UMLS ID:C3714976 | ACTIVATED PI3K-DELTA SYNDROME | OMIM ID:615513 | MONDO:0014222 | immunodeficiency 14 | DOID:0111936 +BMGC_DS15001,BMG_DS056813,UMLS ID:C3714980 | OMIM ID:615994 | BARDET-BIEDL SYNDROME 17 | MONDO:0014445 | Bardet-Biedl syndrome 17 | OMIM ID:606568 +BMGC_DS15002,BMG_DS056814,"CANDIDIASIS, FAMILIAL, 8 | UMLS ID:C3714992 | OMIM ID:615527 | OMIM ID:607043 | candidiasis, familial, 8 | MONDO:0014230" +BMGC_DS15003,BMG_DS056815,"CARDIOMYOPATHY, DILATED, 1KK | dilated cardiomyopathy 1KK | OMIM ID:608517 | MONDO:0014100 | UMLS ID:C3714995 | OMIM ID:615248" +BMGC_DS15004,BMG_DS056816,"OMIM ID:608517 | UMLS ID:C3714998 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22 | OMIM ID:615248" +BMGC_DS15005,BMG_DS056817,"CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE) | neuronal ceroid lipofuscinosis 13 | UMLS ID:C3715049 | OMIM ID:615362 | OMIM ID:603539 | MONDO:0014147" +BMGC_DS15006,BMG_DS056818,MONDO:0014128 | CRANIOSYNOSTOSIS 3 | DOID:0061011 | OMIM ID:600480 | craniosynostosis 3 | OMIM ID:615314 | TCF12-related craniosynostosis | UMLS ID:C3715051 +BMGC_DS15007,BMG_DS056819,OMIM ID:615612 | UMLS ID:C3715079 | DEVELOPMENTAL DYSPLASIA OF THE HIP 2 | developmental dysplasia of the hip 2 | DOID:0060932 | MONDO:0014277 +BMGC_DS15008,BMG_DS056820,"OMIM ID:601001 | 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" +BMGC_DS15009,BMG_DS056821,"OMIM ID:601198 | MONDO:0016983 | DOID:0090107 | autosomal dominant hypocalcemia 1 | HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 | Bartter syndrome with hypocalcemia | OMIM ID:601199 | UMLS ID:C3715128" +BMGC_DS15010,BMG_DS056823,OMIM ID:600543 | OMIM ID:615515 | amyotrophic lateral sclerosis type 19 | AMYOTROPHIC LATERAL SCLEROSIS 19 | MONDO:0014223 | DOID:0060210 | UMLS ID:C3715155 +BMGC_DS15011,BMG_DS056824,AMYOTROPHIC LATERAL SCLEROSIS 20 | amyotrophic lateral sclerosis type 20 | UMLS ID:C3715156 | MONDO:0014181 | OMIM ID:164017 | DOID:0060211 | OMIM ID:615426 +BMGC_DS15012,BMG_DS056825,OMIM ID:615360 | Leber congenital amaurosis 17 | OMIM ID:601147 | LEBER CONGENITAL AMAUROSIS 17 | UMLS ID:C3715164 | MONDO:0014145 +BMGC_DS15013,BMG_DS056826,DOID:0081158 | LEFT VENTRICULAR NONCOMPACTION 10 | MONDO:0014163 | OMIM ID:615396 | left ventricular noncompaction 10 | OMIM ID:600958 | UMLS ID:C3715165 | dilated cardiomyopathy 1MM +BMGC_DS15014,BMG_DS056827,OMIM ID:615381 | mandibular hypoplasia-deafness-progeroid syndrome | MONDO:0014157 | UMLS ID:C3715192 +BMGC_DS15015,BMG_DS056828,OMIM ID:608002 | OMIM ID:208540 | UMLS ID:C3715199 | RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 | renal-hepatic-pancreatic dysplasia 1 | MONDO:0008833 +BMGC_DS15016,BMG_DS056829,UMLS ID:C3715216 | OMIM ID:615233 | RETINITIS PIGMENTOSA 66 | MONDO:0014093 | retinitis pigmentosa 66 | OMIM ID:180290 +BMGC_DS15017,BMG_DS056836,CATARACT 13 WITH ADULT i PHENOTYPE | OMIM ID:116700 | MONDO:0007289 | OMIM ID:600429 | cataract 13 with adult I phenotype | UMLS ID:C3805373 +BMGC_DS15018,BMG_DS056837,"DOID:0080614 | OMIM ID:113750 | oculocutaneous albinism type VI | UMLS ID:C3805375 | MONDO:0018264 | OMIM ID:609802 | oculocutaneous albinism type 6 | ALBINISM, OCULOCUTANEOUS, TYPE VI" +BMGC_DS15019,BMG_DS056838,CATARACT 29 | cataract 29 | OMIM ID:115800 | UMLS ID:C3805409 | MONDO:0007282 +BMGC_DS15020,BMG_DS056839,"CATARACT 20, MULTIPLE TYPES | OMIM ID:116100 | UMLS ID:C3805410 | OMIM ID:123730" +BMGC_DS15021,BMG_DS056840,UMLS ID:C3805411 | OMIM ID:193060 | CATARACT 30 | MONDO:0007286 | cataract 30 | OMIM ID:116300 +BMGC_DS15022,BMG_DS056841,CATARACT 41 | cataract 41 | UMLS ID:C3805412 | MONDO:0007287 | OMIM ID:606201 | OMIM ID:116400 +BMGC_DS15023,BMG_DS056842,"OMIM ID:606608 | MONDO:0007355 | COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR IMPAIRED INTELLECTUAL DEVELOPMENT | uveal coloboma-cleft lip and palate-intellectual disability | OMIM ID:120433 | UMLS ID:C3805432" +BMGC_DS15024,BMG_DS056843,FOVEAL HYPOPLASIA 1 | foveal hypoplasia 1 | OMIM ID:607108 | UMLS ID:C3805604 | OMIM ID:136520 | MONDO:0007628 | DOID:0070530 +BMGC_DS15025,BMG_DS056844,"OMIM ID:137440 | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | OMIM ID:176640 | UMLS ID:C3805618" +BMGC_DS15026,BMG_DS056851,"MONDO:0007961 | OMIM ID:155350 | megalencephaly, autosomal dominant | MEGALENCEPHALY, AUTOSOMAL DOMINANT | UMLS ID:C3805727" +BMGC_DS15027,BMG_DS056854,"OMIM ID:176400 | UMLS ID:C3805879 | central precocious puberty 1 | MONDO:0008302 | PRECOCIOUS PUBERTY, CENTRAL, 1 | OMIM ID:604161 | DOID:0112310" +BMGC_DS15028,BMG_DS056858,"OMIM ID:206100 | MONDO:0008787 | microcytic anemia with liver iron overload | UMLS ID:C3806153 | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1" +BMGC_DS15029,BMG_DS056859,MONDO:0014446 | Bardet-Biedl syndrome 18 | OMIM ID:613605 | OMIM ID:615995 | UMLS ID:C3806174 | BARDET-BIEDL SYNDROME 18 +BMGC_DS15030,BMG_DS056863,"UMLS ID:C3806255 | OMIM ID:219721 | CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT | MONDO:0009062 | cystic fibrosis-gastritis-megaloblastic anemia syndrome" +BMGC_DS15031,BMG_DS056865,DEAFNESS AND MYOPIA | high myopia-sensorineural deafness syndrome | MONDO:0009082 | DOID:0111628 | UMLS ID:C3806275 | OMIM ID:609681 | OMIM ID:221200 +BMGC_DS15032,BMG_DS056872,"macrocephaly/megalencephaly syndrome, autosomal recessive | MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE | OMIM ID:248000 | UMLS ID:C3806412 | MONDO:0009544 | OMIM ID:612655" +BMGC_DS15033,BMG_DS056874,"xeroderma pigmentosum, type F/Cockayne syndrome | OMIM ID:278760 | UMLS ID:C3806565 | OMIM ID:133520 | XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME | MONDO:0800313" +BMGC_DS15034,BMG_DS056875,"DOID:0080681 | X-linked chronic idiopathic intestinal pseudo-obstruction | CONGENITAL SHORT BOWEL SYNDROME, X-LINKED | OMIM ID:300048 | OMIM ID:300017 | UMLS ID:C3806579" +BMGC_DS15035,BMG_DS056876,"MONDO:0010334 | DOID:0112123 | severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | UMLS ID:C3806634 | OMIM ID:300475 | OMIM ID:300398 | DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION | deafness, dystonia, and cerebral hypomyelination" +BMGC_DS15036,BMG_DS056878,MONDO:0010438 | PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 | paroxysmal nocturnal hemoglobinuria 1 | UMLS ID:C3806670 | OMIM ID:300818 +BMGC_DS15037,BMG_DS056879,SNOMEDCT ID:771516000 | Solute carrier family 35 member A2 congenital disorder of glycosylation | Congenital disorder of glycosylation type IIm | Congenital disorder of glycosylation type 2m | MONDO:0010478 | SLC35A2-congenital disorder of glycosylation | CDG2M - congenital disorder of glycosylation type 2m | Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | OMIM ID:300896 | UMLS ID:C3806688 | SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation +BMGC_DS15038,BMG_DS056880,"OMIM ID:300905 | UMLS ID:C3806702 | OMIM ID:300906 | Charcot-Marie-Tooth disease X-linked dominant 6 | MONDO:0010479 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6" +BMGC_DS15039,BMG_DS056882,UMLS ID:C3806711 | OMIM ID:300909 | susceptibility to angioedema induced by ACE inhibitors | MONDO:0100003 +BMGC_DS15040,BMG_DS056883,"OMIM ID:300556 | MONDO:0010482 | OMIM ID:300911 | DOID:0112105 | PARKINSONISM WITH SPASTICITY, X-LINKED | UMLS ID:C3806722 | X-linked parkinsonism-spasticity syndrome" +BMGC_DS15041,BMG_DS056884,"UMLS ID:C3806730 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 | X-linked intellectual disability, Cantagrel type | MONDO:0010483 | OMIM ID:300524 | non-syndromic X-linked intellectual disability 98 | DOID:0112044 | OMIM ID:300912" +BMGC_DS15042,BMG_DS056885,"OMIM ID:303631 | X-linked deafness 6 | DOID:0111740 | DEAFNESS, X-LINKED 6 | MONDO:0010484 | hearing loss, X-linked 6 | UMLS ID:C3806737 | OMIM ID:300914" +BMGC_DS15043,BMG_DS056886,"UMLS ID:C3806742 | DOID:0111811 | OMIM ID:300193 | X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | MONDO:0010485 | syndromic microphthalmia 13 | OMIM ID:300915 | MICROPHTHALMIA, SYNDROMIC 13" +BMGC_DS15044,BMG_DS056887,"X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques | OMIM ID:300918 | Olmsted syndrome, X-linked | OMIM ID:300294 | OLMSTED SYNDROME, X-LINKED | MONDO:0010486 | UMLS ID:C3806745 | DOID:0112012" +BMGC_DS15045,BMG_DS056888,"intellectual disability, X-linked 99 | MONDO:0010487 | OMIM ID:300919 | UMLS ID:C3806746" +BMGC_DS15046,BMG_DS056889,"X-linked dyskeratosis congenita | GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA | UMLS ID:C3806774 | OMIM ID:305000 | DOID:0070025" +BMGC_DS15047,BMG_DS056891,CRANIOSYNOSTOSIS 4 | UMLS ID:C3806917 | craniosynostosis 4 | DOID:0061012 | OMIM ID:600775 | OMIM ID:611888 +BMGC_DS15048,BMG_DS056892,"UMLS ID:C3807235 | DYSERYTHROPOIESIS, CONGENITAL, WITH ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN | MONDO:0011332 | OMIM ID:603529 | Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin" +BMGC_DS15049,BMG_DS056893,"MONDO:0011397 | autosomal dominant cerebellar ataxia, deafness and narcolepsy | UMLS ID:C3807295 | CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT | DOID:0050968 | OMIM ID:126375 | OMIM ID:604121" +BMGC_DS15050,BMG_DS056896,"UMLS ID:C3807327 | OMIM ID:603426 | DOID:0110011 | MONDO:0011442 | OMIM ID:604348 | advanced sleep phase syndrome 1 | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1" +BMGC_DS15051,BMG_DS056898,OMIM ID:164015 | UMLS ID:C3807521 | OMIM ID:606070 | AMYOTROPHIC LATERAL SCLEROSIS 21 | MONDO:0011632 | DOID:0060212 | amyotrophic lateral sclerosis type 21 +BMGC_DS15052,BMG_DS056899,MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY | UMLS ID:C3807541 | OMIM ID:606369 +BMGC_DS15053,BMG_DS056900,"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 | MONDO:0011714 | OMIM ID:601047 | partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | OMIM ID:606721 | UMLS ID:C3807567" +BMGC_DS15054,BMG_DS056904,OMIM ID:608636 | CHROMOSOME 15q11.2 DUPLICATION SYNDROME | UMLS ID:C3807826 +BMGC_DS15055,BMG_DS056905,foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | OMIM ID:609218 | OMIM ID:615585 | FOVEAL HYPOPLASIA 2 | UMLS ID:C3807873 | MONDO:0012216 +BMGC_DS15056,BMG_DS056907,"OMIM ID:610425 | CATARACT 23, MULTIPLE TYPES | UMLS ID:C3808012 | cataract 23 | MONDO:0012489" +BMGC_DS15057,BMG_DS056908,OMIM ID:610623 | CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES | UMLS ID:C3808029 +BMGC_DS15058,BMG_DS056910,"OMIM ID:611391 | UMLS ID:C3808107 | cataract 33 | CATARACT 33, MULTIPLE TYPES | MONDO:0012665" +BMGC_DS15059,BMG_DS056911,"OMIM ID:603212 | OMIM ID:611597 | UMLS ID:C3808115 | cataract 12 multiple types | CATARACT 12, MULTIPLE TYPES | MONDO:0012701" +BMGC_DS15060,BMG_DS056912,UMLS ID:C3808145 | OMIM ID:611878 | LEFT VENTRICULAR NONCOMPACTION 9 | left ventricular noncompaction 9 | OMIM ID:191010 | MONDO:0800346 +BMGC_DS15061,BMG_DS056913,OMIM ID:604685 | UMLS ID:C3808166 | MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT | OMIM ID:612290 +BMGC_DS15062,BMG_DS056915,"UMLS ID:C3808300 | OMIM ID:613215 | chromosome 17p13.3 duplication syndrome | CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME | MONDO:0013182" +BMGC_DS15063,BMG_DS056916,"MONDO:0013411 | CATARACT 16, MULTIPLE TYPES | UMLS ID:C3808377 | cataract 16 multiple types | OMIM ID:613763" +BMGC_DS15064,BMG_DS056917,"OMIM ID:614039 | MONDO:0013541 | complex cortical dysplasia with other brain malformations 1 | OMIM ID:602661 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 | UMLS ID:C3808397" +BMGC_DS15065,BMG_DS056918,OMIM ID:601119 | PERRAULT SYNDROME 3 | MONDO:0013588 | Perrault syndrome 3 | OMIM ID:614129 | UMLS ID:C3808414 +BMGC_DS15066,BMG_DS056919,chromosome 2p16.3 deletion syndrome | CHROMOSOME 2p16.3 DELETION SYNDROME | MONDO:0013696 | OMIM ID:614332 | UMLS ID:C3808494 +BMGC_DS15067,BMG_DS056920,BONE MARROW FAILURE SYNDROME 1 | OMIM ID:614675 | autosomal dominant aplasia and myelodysplasia | OMIM ID:602122 | MONDO:0013851 | UMLS ID:C3808553 +BMGC_DS15068,BMG_DS056921,immunodeficiency 32A | DOID:0111986 | MONDO:0013957 | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | IMMUNODEFICIENCY 32A | OMIM ID:614893 | UMLS ID:C3808589 | OMIM ID:601565 +BMGC_DS15069,BMG_DS056923,"DOID:0111729 | familial episodic pain syndrome with predominantly upper body involvement | familial episodic pain syndrome 1 | EPISODIC PAIN SYNDROME, FAMILIAL, 1 | OMIM ID:615040 | MONDO:0014021 | UMLS ID:C3808667 | OMIM ID:604775" +BMGC_DS15070,BMG_DS056926,"UMLS ID:C3808739 | congenital myasthenic syndrome 8 | DOID:0110657 | OMIM ID:615120 | MONDO:0014052 | OMIM ID:103320 | MYASTHENIC SYNDROME, CONGENITAL, 8" +BMGC_DS15071,BMG_DS056928,"DOID:0070100 | ALBINISM, OCULOCUTANEOUS, TYPE VII | oculocutaneous albinism type 7 | UMLS ID:C3808786 | MONDO:0014070 | OMIM ID:614537 | OMIM ID:615179 | oculocutaneous albinism type VII" +BMGC_DS15072,BMG_DS056929,"MONDO:0014075 | cataract 39 multiple types | UMLS ID:C3808800 | CATARACT 39, MULTIPLE TYPES | OMIM ID:615188 | OMIM ID:123670" +BMGC_DS15073,BMG_DS056930,"autosomal recessive dyskeratosis congenita 5 | OMIM ID:615190 | MONDO:0800366 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 | DOID:0070022 | OMIM ID:608833 | dyskeratosis congenita, autosomal dominant 4 | UMLS ID:C3808802" +BMGC_DS15074,BMG_DS056931,"UMLS ID:C3808844 | MONDO:0014086 | OMIM ID:615220 | OMIM ID:164820 | OSTEOGENESIS IMPERFECTA, TYPE XV | osteogenesis imperfecta type 15" +BMGC_DS15075,BMG_DS056932,"ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 | DOID:0110012 | UMLS ID:C3808874 | MONDO:0014088 | OMIM ID:615224 | OMIM ID:600864 | advanced sleep phase syndrome 2" +BMGC_DS15076,BMG_DS056933,OMIM ID:615225 | corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | OMIM ID:616964 | MONDO:0014089 | UMLS ID:C3808876 +BMGC_DS15077,BMG_DS056934,"MONDO:0014090 | OMIM ID:194648 | POLYDACTYLY, POSTAXIAL, TYPE A6 | OMIM ID:615226 | polydactyly, postaxial, type A6 | UMLS ID:C3808889" +BMGC_DS15078,BMG_DS056935,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B | DOID:0070462 | OMIM ID:615228 | OMIM ID:164360 | MONDO:0014091 | UMLS ID:C3808899 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B" +BMGC_DS15079,BMG_DS056936,OMIM ID:615232 | UMLS ID:C3808913 | schizophrenia 18 | MONDO:0014092 +BMGC_DS15080,BMG_DS056937,"UMLS ID:C3808920 | ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 | severe congenital hypochromic anemia with ringed sideroblasts | OMIM ID:609671 | MONDO:0014094 | OMIM ID:615234" +BMGC_DS15081,BMG_DS056939,"MONDO:0014095 | OMIM ID:600133 | dilated cardiomyopathy 1JJ | OMIM ID:615235 | UMLS ID:C3808935 | CARDIOMYOPATHY, DILATED, 1JJ" +BMGC_DS15082,BMG_DS056940,FPLD5 - familial partial lipodystrophy type 5 | Cell death inducing DFFA like effector C-related familial partial lipodystrophy | SNOMEDCT ID:1197749008 | OMIM ID:615238 | UMLS ID:C3808940 | CIDEC-related familial partial lipodystrophy | Cell death inducing DFFA like effector C-related familial partial lipodystrophy (disorder) | MONDO:0014098 +BMGC_DS15083,BMG_DS056941,"OMIM ID:601925 | nephrotic syndrome type 8 | NEPHROTIC SYNDROME, TYPE 8 | nephrotic syndrome, type 8 | UMLS ID:C3808953 | OMIM ID:615244 | MONDO:0014099 | DOID:0080389" +BMGC_DS15084,BMG_DS056942,"OMIM ID:608517 | UMLS ID:C3808963 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4 | OMIM ID:615248" +BMGC_DS15085,BMG_DS056943,"UMLS ID:C3808964 | MONDO:0014101 | DOID:0111235 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | congenital muscular dystrophy-dystroglycanopathy type A12 | OMIM ID:615247 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | OMIM ID:615249" +BMGC_DS15086,BMG_DS056944,HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA | OMIM ID:615266 | UMLS ID:C3808971 | MONDO:0014102 | hypogonadotropic hypogonadism 17 with or without anosmia +BMGC_DS15087,BMG_DS056945,hypogonadotropic hypogonadism 18 with or without anosmia | HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA | OMIM ID:615267 | UMLS ID:C3808975 | MONDO:0014103 +BMGC_DS15088,BMG_DS056946,"MONDO:0014104 | cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 4 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | UMLS ID:C3808977 | DOID:0070559 | OMIM ID:615268 | OMIM ID:605870" +BMGC_DS15089,BMG_DS056947,MONDO:0014105 | hypogonadotropic hypogonadism 19 with or without anosmia | OMIM ID:615269 | HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA | UMLS ID:C3808981 +BMGC_DS15090,BMG_DS056948,UMLS ID:C3808983 | MONDO:0014106 | HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA | OMIM ID:615270 | hypogonadotropic hypogonadism 20 with or without anosmia +BMGC_DS15091,BMG_DS056949,UMLS ID:C3808986 | MONDO:0014107 | HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 21 with or without anosmia | OMIM ID:615271 +BMGC_DS15092,BMG_DS056950,"UMLS ID:C3808988 | DOID:0111093 | Fanconi anemia complementation group Q | OMIM ID:615272 | OMIM ID:133520 | MONDO:0014108 | FANCONI ANEMIA, COMPLEMENTATION GROUP Q" +BMGC_DS15093,BMG_DS056951,MONDO:0031376 | DOID:0060728 | NGLY1 deficiency | congenital disorder of deglycosylation 1 | congenital disorder of deglycosylation | UMLS ID:C3808991 | MeSH ID:C000626124 +BMGC_DS15094,BMG_DS056952,"MONDO:0014110 | CATARACT 15, MULTIPLE TYPES | cataract 15 multiple types | OMIM ID:154050 | UMLS ID:C3809001 | OMIM ID:615274" +BMGC_DS15095,BMG_DS056953,"UMLS ID:C3809004 | OMIM ID:615277 | MONDO:0014111 | CATARACT 19, MULTIPLE TYPES | cataract 19 multiple types" +BMGC_DS15096,BMG_DS056954,MONDO:0014112 | UMLS ID:C3809005 | cardiofaciocutaneous syndrome 2 | OMIM ID:615278 | CARDIOFACIOCUTANEOUS SYNDROME 2 | OMIM ID:190070 | DOID:0111461 +BMGC_DS15097,BMG_DS056955,OMIM ID:615279 | UMLS ID:C3809006 | cardiofaciocutaneous syndrome 3 | OMIM ID:176872 | DOID:0111462 | CARDIOFACIOCUTANEOUS SYNDROME 3 | MONDO:0014113 +BMGC_DS15098,BMG_DS056956,CARDIOFACIOCUTANEOUS SYNDROME 4 | DOID:0111463 | cardiofaciocutaneous syndrome 4 | MONDO:0014114 | OMIM ID:615280 | UMLS ID:C3809007 | OMIM ID:601263 +BMGC_DS15099,BMG_DS056957,"OMIM ID:615282 | MONDO:0014116 | complex cortical dysplasia with other brain malformations 2 | DOID:0090133 | OMIM ID:604593 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 | UMLS ID:C3809013" +BMGC_DS15100,BMG_DS056958,"MONDO:0014118 | DOID:0112132 | severe congenital neutropenia 5 | UMLS ID:C3809031 | OMIM ID:610035 | NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE | OMIM ID:615285 | congenital neutropenia-myelofibrosis-nephromegaly syndrome" +BMGC_DS15101,BMG_DS056960,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | DOID:0111238 | congenital muscular dystrophy-dystroglycanopathy type A13 | OMIM ID:605517 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | OMIM ID:615287 | MONDO:0014120 | UMLS ID:C3809042" +BMGC_DS15102,BMG_DS056961,"MYOFIBROMATOSIS, INFANTILE, 2 | OMIM ID:600276 | myofibromatosis, infantile, 2 | OMIM ID:615293 | UMLS ID:C3809084 | MONDO:0014122" +BMGC_DS15103,BMG_DS056962,"UMLS ID:C3809087 | MONDO:0014123 | CILIARY DYSKINESIA, PRIMARY, 21 | primary ciliary dyskinesia 21 | OMIM ID:615294" +BMGC_DS15104,BMG_DS056963,UMLS ID:C3809092 | Adams-Oliver syndrome 4 | ADAMS-OLIVER SYNDROME 4 | OMIM ID:615297 | OMIM ID:614789 | MONDO:0014124 +BMGC_DS15105,BMG_DS056967,"symphalangism, proximal, 1B | OMIM ID:601146 | MONDO:0014125 | UMLS ID:C3809104 | proximal symphalangism 2 | SYMPHALANGISM, PROXIMAL, 1B | OMIM ID:615298 | DOID:0080788" +BMGC_DS15106,BMG_DS056968,UMLS ID:C3809105 | Perrault syndrome 4 | PERRAULT SYNDROME 4 | OMIM ID:615300 | MONDO:0014126 | OMIM ID:604544 +BMGC_DS15107,BMG_DS056969,DOWLING-DEGOS DISEASE 2 | MONDO:0014130 | Dowling-Degos disease 2 | OMIM ID:607491 | UMLS ID:C3809147 | OMIM ID:615327 +BMGC_DS15108,BMG_DS056970,"Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome | Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | MONDO:0014131 | SNOMEDCT ID:773553003 | OMIM ID:615328 | UMLS ID:C3809160 | Shaheen syndrome | hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome" +BMGC_DS15109,BMG_DS056971,UMLS ID:C3809165 | multiple mitochondrial dysfunctions syndrome 3 | MONDO:0014132 | Multiple mitochondrial dysfunctions syndrome type 3 | IBA57 (iron-sulfur cluster assembly factor IBA57) deficiency | MMDS3 - multiple mitochondrial dysfunctions syndrome type 3 | SNOMEDCT ID:1208620009 | OMIM ID:615330 | Multiple mitochondrial dysfunctions syndrome type 3 (disorder) +BMGC_DS15110,BMG_DS056972,"MONDO:0014133 | OMIM ID:138290 | OMIM ID:613577 | developmental and epileptic encephalopathy, 16 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 | developmental and epileptic encephalopathy 16 | DOID:0080449 | OMIM ID:615338 | UMLS ID:C3809173" +BMGC_DS15111,BMG_DS056974,"OMIM ID:615343 | OMIM ID:601047 | MONDO:0014135 | UMLS ID:C3809192 | pulmonary hypertension, primary, 3 | PULMONARY HYPERTENSION, PRIMARY, 3" +BMGC_DS15112,BMG_DS056975,"pulmonary hypertension, primary, 4 | OMIM ID:615344 | MONDO:0014136 | OMIM ID:603220 | PULMONARY HYPERTENSION, PRIMARY, 4 | UMLS ID:C3809198" +BMGC_DS15113,BMG_DS056976,"MeSH ID:C000726751 | MONDO:0014137 | OMIM ID:615346 | Central precocious puberty 2 | precocious puberty, central, 2 | UMLS ID:C3809199" +BMGC_DS15114,BMG_DS056977,NEMALINE MYOPATHY 8 | nemaline myopathy 8 | OMIM ID:615340 | OMIM ID:615348 | UMLS ID:C3809209 | MONDO:0014138 | DOID:0110930 +BMGC_DS15115,BMG_DS056978,"OMIM ID:615349 | UMLS ID:C3809210 | SNOMEDCT ID:1251499005 | MONDO:0014139 | Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) | Ehlers-Danlos syndrome progeroid type 2" +BMGC_DS15116,BMG_DS056979,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | congenital muscular dystrophy-dystroglycanopathy A14 | OMIM ID:615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | UMLS ID:C3809216 | DOID:0111233 | MONDO:0014140 | OMIM ID:615320" +BMGC_DS15117,BMG_DS056980,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 | MONDO:0014141 | muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | DOID:0112377 | muscular dystrophy-dystroglycanopathy type B14 | UMLS ID:C3809221 | OMIM ID:615351 | OMIM ID:615320" +BMGC_DS15118,BMG_DS056981,OMIM ID:609591 | Noonan syndrome 8 | MONDO:0014143 | OMIM ID:615355 | NOONAN SYNDROME 8 | UMLS ID:C3809233 +BMGC_DS15119,BMG_DS056982,"MONDO:0014146 | autosomal dominant hypocalcemia 2 | DOID:0090108 | OMIM ID:139313 | HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 | UMLS ID:C3809243 | OMIM ID:615361" +BMGC_DS15120,BMG_DS056983,UMLS ID:C3809250 | ESTROGEN RESISTANCE | MONDO:0014148 | OMIM ID:133430 | estrogen resistance syndrome | OMIM ID:615363 +BMGC_DS15121,BMG_DS056987,OMIM ID:602119 | developmental and epileptic encephalopathy 94 | OMIM ID:615369 | MONDO:0014150 | DOID:0081325 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 | UMLS ID:C3809278 +BMGC_DS15122,BMG_DS056988,DOID:0081157 | OMIM ID:615373 | LEFT VENTRICULAR NONCOMPACTION 8 | OMIM ID:605557 | MONDO:0014152 | dilated cardiomyopathy 1LL | UMLS ID:C3809288 | left ventricular noncompaction 8 +BMGC_DS15123,BMG_DS056989,"OMIM ID:615373 | MONDO:0800367 | OMIM ID:605557 | dilated cardiomyopathy 1LL | UMLS ID:C3809289 | CARDIOMYOPATHY, DILATED, 1LL | DOID:0081157 | cardiomyopathy, dilated, 1LL" +BMGC_DS15124,BMG_DS056990,OMIM ID:615374 | OMIM ID:612994 | MONDO:0014153 | UMLS ID:C3809299 | CONE-ROD DYSTROPHY 18 | cone-rod dystrophy 18 | DOID:0111024 +BMGC_DS15125,BMG_DS056991,"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C | Charcot-Marie-Tooth disease recessive intermediate C | OMIM ID:611101 | UMLS ID:C3809309 | OMIM ID:615376 | MONDO:0014154" +BMGC_DS15126,BMG_DS056992,"MONDO:0014155 | OMIM ID:615377 | UMLS ID:C3809311 | ATRIAL FIBRILLATION, FAMILIAL, 13 | OMIM ID:600235 | atrial fibrillation, familial, 13" +BMGC_DS15127,BMG_DS056993,"atrial fibrillation, familial, 14 | OMIM ID:601327 | OMIM ID:615378 | UMLS ID:C3809312 | ATRIAL FIBRILLATION, FAMILIAL, 14 | MONDO:0014156" +BMGC_DS15128,BMG_DS056994,OMIM ID:615382 | NEPHRONOPHTHISIS 16 | MONDO:0014158 | UMLS ID:C3809320 | OMIM ID:615370 | nephronophthisis 16 | DOID:0111124 +BMGC_DS15129,BMG_DS056995,MONDO:0014160 | OMIM ID:615387 | DOID:0111977 | OMIM ID:186880 | TCR-alpha-beta-positive T-cell deficiency | IMMUNODEFICIENCY 7 | UMLS ID:C3809332 | immunodeficiency 7 +BMGC_DS15130,BMG_DS056997,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 | OMIM ID:615395 | MONDO:0014162 | OMIM ID:611849 | DOID:0111469 | UMLS ID:C3809339 | combined oxidative phosphorylation deficiency 16 | infantile hypertrophic cardiomyopathy due to MRPL44 deficiency +BMGC_DS15131,BMG_DS056998,"DOID:0081158 | cardiomyopathy, dilated, 1MM | CARDIOMYOPATHY, DILATED, 1MM | MONDO:0800368 | UMLS ID:C3809346 | OMIM ID:615396 | OMIM ID:600958 | dilated cardiomyopathy 1MM" +BMGC_DS15132,BMG_DS057001,"UMLS ID:C3809352 | MONDO:0014164 | Meckel syndrome, type 11 | MECKEL SYNDROME, TYPE 11 | OMIM ID:614949 | OMIM ID:615397" +BMGC_DS15133,BMG_DS057002,OMIM ID:610272 | MONDO:0014165 | multiple congenital anomalies-hypotonia-seizures syndrome 3 | OMIM ID:615398 | OMIM ID:603530 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 | DOID:0080140 | UMLS ID:C3809356 +BMGC_DS15134,BMG_DS057003,OMIM ID:615399 | MONDO:0014166 | UMLS ID:C3809369 | PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 | paroxysmal nocturnal hemoglobinuria 2 +BMGC_DS15135,BMG_DS057004,"DOID:0111691 | familial adult myoclonic epilepsy 5 | EPILEPSY, EARLY-ONSET, 5, WITH OR WITHOUT DEVELOPMENTAL DELAY | MONDO:0014167 | OMIM ID:615400 | epilepsy, familial adult myoclonic, 5 | UMLS ID:C3809374" +BMGC_DS15136,BMG_DS057005,Severe combined immunodeficiency due to CORO1A deficiency | Severe combined immunodeficiency due to coronin 1A deficiency | SNOMEDCT ID:1229942009 | Severe combined immunodeficiency due to coronin 1A deficiency (disorder) | OMIM ID:615401 | UMLS ID:C3809383 | MONDO:0014168 | severe combined immunodeficiency due to CORO1A deficiency +BMGC_DS15137,BMG_DS057006,dyschromatosis universalis hereditaria 3 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 | OMIM ID:605452 | UMLS ID:C3809394 | OMIM ID:615402 | MONDO:0014169 +BMGC_DS15138,BMG_DS057007,"complex cortical dysplasia with other brain malformations 3 | UMLS ID:C3809414 | OMIM ID:602591 | OMIM ID:615411 | MONDO:0014170 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 | DOID:0090134" +BMGC_DS15139,BMG_DS057008,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 | DOID:0090138 | MONDO:0014171 | complex cortical dysplasia with other brain malformations 4 | OMIM ID:615412 | UMLS ID:C3809420 | OMIM ID:191135" +BMGC_DS15140,BMG_DS057009,OMIM ID:608226 | SPERMATOGENIC FAILURE 12 | DOID:0070171 | MONDO:0014172 | spermatogenic failure 12 | OMIM ID:615413 | UMLS ID:C3809427 +BMGC_DS15141,BMG_DS057010,"microcephaly 11, primary, autosomal recessive | DOID:0070287 | MONDO:0014173 | OMIM ID:602978 | OMIM ID:615414 | UMLS ID:C3809431 | primary autosomal recessive microcephaly 11 | MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE" +BMGC_DS15142,BMG_DS057011,RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 | MONDO:0014174 | renal-hepatic-pancreatic dysplasia 2 | UMLS ID:C3809434 | OMIM ID:609799 | OMIM ID:615415 +BMGC_DS15143,BMG_DS057012,"OMIM ID:103220 | UMLS ID:C3809443 | mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | OMIM ID:615418 | MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE | DOID:0080335 | MONDO:0014175 | mitochondrial DNA depletion syndrome 12b" +BMGC_DS15144,BMG_DS057013,"OMIM ID:615419 | MONDO:0024567 | OMIM ID:611549 | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 | hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | UMLS ID:C3809454" +BMGC_DS15145,BMG_DS057014,"UMLS ID:C3809464 | OMIM ID:615421 | MYOPIA 22, AUTOSOMAL DOMINANT | myopia 22, autosomal dominant | OMIM ID:615420 | MONDO:0014177" +BMGC_DS15146,BMG_DS057015,inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 | DOID:0111384 | UMLS ID:C3809468 | inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | OMIM ID:615422 | MONDO:0014178 +BMGC_DS15147,BMG_DS057016,UMLS ID:C3809469 | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 | MONDO:0014179 | DOID:0111386 | inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 | OMIM ID:615424 +BMGC_DS15148,BMG_DS057017,"OMIM ID:113810 | UMLS ID:C3809470 | OMIM ID:615425 | MONDO:0014180 | EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY | epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency" +BMGC_DS15149,BMG_DS057018,"UMLS ID:C3809482 | MONDO:0014183 | OMIM ID:615431 | OMIM ID:104225 | MYOPIA 23, AUTOSOMAL RECESSIVE | myopia 23, autosomal recessive" +BMGC_DS15150,BMG_DS057019,specific language impairment 5 | OMIM ID:615432 | MONDO:0014184 | OMIM ID:615404 | UMLS ID:C3809483 | SPECIFIC LANGUAGE IMPAIRMENT 5 +BMGC_DS15151,BMG_DS057020,OMIM ID:615433 | chromosome 3q13.31 deletion syndrome | CHROMOSOME 3q13.31 DELETION SYNDROME | UMLS ID:C3809490 | MONDO:0014185 +BMGC_DS15152,BMG_DS057021,"OMIM ID:615436 | UMLS ID:C3809513 | MONDO:0014187 | aortic aneurysm, familial thoracic 8 | AORTIC ANEURYSM, FAMILIAL THORACIC 8 | OMIM ID:176894" +BMGC_DS15153,BMG_DS057022,infantile liver failure syndrome 1 | UMLS ID:C3809522 | OMIM ID:615438 | OMIM ID:151350 | DOID:0080717 | MONDO:0024568 | INFANTILE LIVER FAILURE SYNDROME 1 +BMGC_DS15154,BMG_DS057023,"MONDO:0014189 | UMLS ID:C3809523 | age related macular degeneration 13 | MACULAR DEGENERATION, AGE-RELATED, 13 | OMIM ID:615439 | DOID:0110025" +BMGC_DS15155,BMG_DS057024,DOID:0111496 | UMLS ID:C3809526 | combined oxidative phosphorylation deficiency 17 | combined oxidative phosphorylation defect type 17 | OMIM ID:615440 | OMIM ID:605367 | MONDO:0014190 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 +BMGC_DS15156,BMG_DS057025,"catecholaminergic polymorphic ventricular tachycardia 5 | OMIM ID:615441 | UMLS ID:C3809536 | MONDO:0014191 | CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS" +BMGC_DS15157,BMG_DS057026,"primary ciliary dyskinesia 22 | OMIM ID:615444 | OMIM ID:607070 | MONDO:0014192 | UMLS ID:C3809543 | CILIARY DYSKINESIA, PRIMARY, 22" +BMGC_DS15158,BMG_DS057027,"primary ciliary dyskinesia 23 | OMIM ID:615451 | CILIARY DYSKINESIA, PRIMARY, 23 | OMIM ID:615408 | UMLS ID:C3809548 | MONDO:0014193" +BMGC_DS15159,BMG_DS057028,"UMLS ID:C3809553 | mitochondrial complex III deficiency nuclear type 6 | OMIM ID:123980 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 | OMIM ID:615453 | DOID:0080115 | MONDO:0014194" +BMGC_DS15160,BMG_DS057030,"microcornea-myopic chorioretinal atrophy | MONDO:0014195 | OMIM ID:607512 | OMIM ID:615458 | UMLS ID:C3809567 | MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS" +BMGC_DS15161,BMG_DS057031,OMIM ID:615468 | IMMUNODEFICIENCY 12 | OMIM ID:604860 | MONDO:0014197 | immunodeficiency 12 | UMLS ID:C3809583 | DOID:0111988 | combined immunodeficiency due to MALT1 deficiency +BMGC_DS15162,BMG_DS057032,Mitochondrial DNA depletion syndrome 13 encephalomyopathic type | UMLS ID:C3809592 | FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy | mitochondrial DNA depletion syndrome 13 | OMIM ID:615471 | MONDO:0014198 | SNOMEDCT ID:765403009 | FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome | F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form | FBXL4-related early onset mitochondrial encephalopathy | F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) +BMGC_DS15163,BMG_DS057033,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 | OMIM ID:615473 | UMLS ID:C3809606 | developmental and epileptic encephalopathy, 17 | DOID:0080450 | MONDO:0014199 | developmental and epileptic encephalopathy 17" +BMGC_DS15164,BMG_DS057034,"OMIM ID:615474 | PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES | MONDO:0014200 | UMLS ID:C3809609 | OMIM ID:114206 | aldosterone-producing adenoma with seizures and neurological abnormalities" +BMGC_DS15165,BMG_DS057036,"developmental and epileptic encephalopathy, 18 | OMIM ID:615476 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 | OMIM ID:615463 | MONDO:0014201 | UMLS ID:C3809624 | DOID:0080413 | developmental and epileptic encephalopathy 18" +BMGC_DS15166,BMG_DS057037,"CILIARY DYSKINESIA, PRIMARY, 24 | UMLS ID:C3809634 | OMIM ID:615481 | primary ciliary dyskinesia 24 | MONDO:0014202" +BMGC_DS15167,BMG_DS057038,"primary ciliary dyskinesia 25 | MONDO:0014203 | CILIARY DYSKINESIA, PRIMARY, 25 | OMIM ID:615482 | OMIM ID:608706 | UMLS ID:C3809641" +BMGC_DS15168,BMG_DS057039,"OMIM ID:190040 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 | OMIM ID:615483 | UMLS ID:C3809645 | basal ganglia calcification, idiopathic, 5 | MONDO:0014204" +BMGC_DS15169,BMG_DS057040,INFANTILE LIVER FAILURE SYNDROME 2 | OMIM ID:608025 | MONDO:0014659 | infantile liver failure syndrome 2 | OMIM ID:616483 | UMLS ID:C3809651 +BMGC_DS15170,BMG_DS057041,"DOID:0110026 | UMLS ID:C3809653 | MONDO:0014207 | age related macular degeneration 14 | OMIM ID:615489 | MACULAR DEGENERATION, AGE-RELATED, 14" +BMGC_DS15171,BMG_DS057042,"MONDO:0014208 | OMIM ID:615490 | Charcot-Marie-Tooth disease type 2R | UMLS ID:C3809655 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R | OMIM ID:614141" +BMGC_DS15172,BMG_DS057043,"hereditary spastic paraplegia 79B | OMIM ID:191342 | MONDO:0014209 | DOID:0112344 | OMIM ID:615491 | UMLS ID:C3809665 | early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE" +BMGC_DS15173,BMG_DS057044,MONDO:0014210 | UMLS ID:C3809672 | OMIM ID:615493 | intellectual disability-hypotonia-spasticity-sleep disorder syndrome +BMGC_DS15174,BMG_DS057045,"MONDO:0014211 | CILIARY DYSKINESIA, PRIMARY, 26 | OMIM ID:615500 | primary ciliary dyskinesia 26 | UMLS ID:C3809684" +BMGC_DS15175,BMG_DS057046,OMIM ID:615502 | UMLS ID:C3809686 | intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | MONDO:0014213 +BMGC_DS15176,BMG_DS057047,short-rib thoracic dysplasia 8 with or without polydactyly | OMIM ID:615503 | OMIM ID:615462 | UMLS ID:C3809691 | MONDO:0014214 | SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY +BMGC_DS15177,BMG_DS057048,"primary ciliary dyskinesia 27 | MONDO:0014215 | OMIM ID:615504 | CILIARY DYSKINESIA, PRIMARY, 27 | UMLS ID:C3809701" +BMGC_DS15178,BMG_DS057049,"UMLS ID:C3809706 | CILIARY DYSKINESIA, PRIMARY, 28 | MONDO:0014216 | OMIM ID:615505 | primary ciliary dyskinesia 28" +BMGC_DS15179,BMG_DS057050,"telangiectasia, hereditary hemorrhagic, type 5 | OMIM ID:615506 | TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 | UMLS ID:C3809710 | MONDO:0014217 | OMIM ID:605120" +BMGC_DS15180,BMG_DS057051,"OMIM ID:615508 | UMLS ID:C3809719 | Severe dermatitis, multiple allergies, metabolic wasting syndrome (disorder) | Severe dermatitis, multiple allergies, metabolic wasting syndrome | MONDO:0014218 | SAM syndrome | SNOMEDCT ID:774211005 | Congenital erythroderma, hypotrichosis, recurrent infections, multiple food allergies syndrome | severe dermatitis-multiple allergies-metabolic wasting syndrome" +BMGC_DS15181,BMG_DS057054,"DOID:0081203 | UMLS ID:C3809753 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38 | developmental delay with autism spectrum disorder and gait instability | OMIM ID:615516 | autosomal recessive intellectual developmental disorder 38 | OMIM ID:605837 | MONDO:0014224" +BMGC_DS15182,BMG_DS057055,immunodeficiency 13 | idiopathic CD4 lymphocytopenia | IMMUNODEFICIENCY 13 | DOID:0111987 | OMIM ID:615518 | MONDO:0014226 | OMIM ID:604011 | UMLS ID:C3809768 +BMGC_DS15183,BMG_DS057057,UMLS ID:C3809781 | Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification | Cole disease | MONDO:0014227 | Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification (disorder) | OMIM ID:615522 | SNOMEDCT ID:711154007 | hypopigmentation-punctate palmoplantar keratoderma syndrome +BMGC_DS15184,BMG_DS057063,"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 | corneal dystrophy, Fuchs endothelial, 8 | MONDO:0014228 | UMLS ID:C3809798 | OMIM ID:615496 | OMIM ID:615523" +BMGC_DS15185,BMG_DS057064,"microphthalmia, syndromic 12 | OMIM ID:180220 | DOID:0111800 | OMIM ID:615524 | syndromic microphthalmia 12 | MICROPHTHALMIA, SYNDROMIC 12 | MONDO:0014229 | UMLS ID:C3809803" +BMGC_DS15186,BMG_DS057065,"UMLS ID:C3809811 | MONDO:0014231 | PARKINSON DISEASE 19A, JUVENILE-ONSET | OMIM ID:608375 | juvenile onset Parkinson disease 19A | OMIM ID:615528" +BMGC_DS15187,BMG_DS057066,"UMLS ID:C3809819 | craniosynostosis 5, susceptibility to | MONDO:0014232 | OMIM ID:615529" +BMGC_DS15188,BMG_DS057067,"UMLS ID:C3809824 | DOID:0060898 | early-onset Parkinson disease 20 | Parkinson's disease 20 | OMIM ID:615530 | MONDO:0014233 | PARKINSON DISEASE 20, EARLY-ONSET | OMIM ID:604297" +BMGC_DS15189,BMG_DS057069,OMIM ID:615538 | UMLS ID:C3809844 | CHROMOSOME 22q13 DUPLICATION SYNDROME | MONDO:0014235 | chromosome 22q13 duplication syndrome | DOID:0060437 +BMGC_DS15190,BMG_DS057070,"MONDO:0014236 | OMIM ID:605942 | DOID:0080737 | OMIM ID:615539 | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 | Ehlers-Danlos syndrome musculocontractural type 2 | Ehlers-Danlos syndrome, musculocontractural type 2 | UMLS ID:C3809845" +BMGC_DS15191,BMG_DS057071,"UMLS ID:C3809853 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39 | severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | OMIM ID:615541 | autosomal recessive intellectual developmental disorder 39 | OMIM ID:614426 | DOID:0081204 | MONDO:0014238" +BMGC_DS15192,BMG_DS057072,OMIM ID:615542 | testicular anomalies with or without congenital heart disease | MONDO:0014239 | OMIM ID:600576 | UMLS ID:C3809858 | TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE +BMGC_DS15193,BMG_DS057074,OMIM ID:615532 | MONDO:0014240 | periventricular nodular heterotopia 6 | UMLS ID:C3809872 | PERIVENTRICULAR NODULAR HETEROTOPIA 6 | OMIM ID:615544 +BMGC_DS15194,BMG_DS057075,"OMIM ID:615545 | MONDO:0014241 | leukemia, acute lymphoblastic, susceptibility to, 3 | UMLS ID:C3809874" +BMGC_DS15195,BMG_DS057076,VAN MALDERGEM SYNDROME 2 | OMIM ID:615546 | DOID:0080586 | UMLS ID:C3809875 | Van Maldergem syndrome 2 | MONDO:0014242 | OMIM ID:612411 | van Maldergem syndrome 2 +BMGC_DS15196,BMG_DS057077,Prader-Willi-like syndrome (disorder) | UMLS ID:C3809877 | DOID:0111715 | SNOMEDCT ID:770680004 | Prader-Willi-like syndrome | Schaaf-Yang syndrome | MONDO:0018354 +BMGC_DS15197,BMG_DS057078,HSAN7- hereditary sensory and autonomic neuropathy type 7 | SNOMEDCT ID:783550006 | UMLS ID:C3809882 | Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction | Hereditary sensory and autonomic neuropathy type VII | Hereditary sensory and autonomic neuropathy type 7 | hereditary sensory and autonomic neuropathy type 7 | Hereditary sensory and autonomic neuropathy type 7 (disorder) | OMIM ID:615548 | MONDO:0014244 | Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction +BMGC_DS15198,BMG_DS057079,MONDO:0014245 | Diamond-Blackfan anemia 12 | DIAMOND-BLACKFAN ANEMIA 12 | OMIM ID:615550 | UMLS ID:C3809888 | DOID:0111882 | OMIM ID:604174 +BMGC_DS15199,BMG_DS057080,"EPISODIC PAIN SYNDROME, FAMILIAL, 2 | episodic pain syndrome, familial, 2 | OMIM ID:604427 | familial episodic pain syndrome 2 | MONDO:0014246 | OMIM ID:615551 | UMLS ID:C3809893 | DOID:0111730" +BMGC_DS15200,BMG_DS057081,"EPISODIC PAIN SYNDROME, FAMILIAL, 3 | familial episodic pain syndrome 3 | familial episodic pain syndrome with predominantly lower limb involvement | MONDO:0014247 | OMIM ID:604385 | UMLS ID:C3809899 | OMIM ID:615552 | DOID:0111731" +BMGC_DS15201,BMG_DS057082,"autism spectrum disorder - epilepsy - arthrogryposis syndrome | ARTHROGRYPOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | OMIM ID:615553 | OMIM ID:605632 | UMLS ID:C3809910 | MONDO:0014248" +BMGC_DS15202,BMG_DS057083,OMIM ID:615554 | UMLS ID:C3809918 | MONDO:0014249 | multiple fibroadenoma of the breast +BMGC_DS15203,BMG_DS057084,"melioidosis, susceptibility to | MONDO:0014251 | UMLS ID:C3809925 | OMIM ID:615557" +BMGC_DS15204,BMG_DS057085,"OMIM ID:176977 | autoimmune lymphoproliferative syndrome type 3 | MONDO:8000024 | DOID:0110119 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III | OMIM ID:615559 | UMLS ID:C3809928 | autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD" +BMGC_DS15205,BMG_DS057086,complement factor b deficiency | COMPLEMENT FACTOR B DEFICIENCY | UMLS ID:C3809950 | OMIM ID:138470 | OMIM ID:615561 | MONDO:0014255 +BMGC_DS15206,BMG_DS057087,RETINITIS PIGMENTOSA 67 | MONDO:0014256 | retinitis pigmentosa 67 | UMLS ID:C3809954 | OMIM ID:604043 | OMIM ID:615565 +BMGC_DS15207,BMG_DS057088,"OMIM ID:615573 | MONDO:0014257 | UMLS ID:C3809965 | DOID:0080391 | NEPHROTIC SYNDROME, TYPE 9 | OMIM ID:615567 | nephrotic syndrome, type 9 | nephrotic syndrome type 9" +BMGC_DS15208,BMG_DS057089,"congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | SNOMEDCT ID:782757004 | UMLS ID:C3809971 | Asparagine synthetase deficiency | MONDO:0014258 | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder) | OMIM ID:615574" +BMGC_DS15209,BMG_DS057090,"IMMUNODEFICIENCY, COMMON VARIABLE, 10 | common variable immunodeficiency 10 | UMLS ID:C3809991 | MONDO:0014260 | DOID:0081152 | OMIM ID:164012 | immunodeficiency, common variable, 10 | OMIM ID:615577" +BMGC_DS15210,BMG_DS057091,growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | OMIM ID:615578 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 | MONDO:0014261 | DOID:0111484 | OMIM ID:615564 | combined oxidative phosphorylation deficiency 18 | UMLS ID:C3810001 +BMGC_DS15211,BMG_DS057092,UMLS ID:C3810012 | MONDO:0014262 | DOID:0070236 | RIENHOFF SYNDROME | Rienhoff syndrome | OMIM ID:615582 | Loeys-Dietz syndrome 5 +BMGC_DS15212,BMG_DS057093,OMIM ID:615583 | MONDO:0014263 | Monosomy 8q24.3 | 8q24.3 microdeletion syndrome | UMLS ID:C3810023 | Deletion 8q24.3 | SNOMEDCT ID:1229895008 | 8q24.3 microdeletion syndrome (disorder) | Verheij syndrome +BMGC_DS15213,BMG_DS057094,OMIM ID:615590 | MONDO:0014265 | DOID:0110050 | Alzheimer disease 18 | ALZHEIMER DISEASE 18 | Alzheimer's disease 18 | UMLS ID:C3810041 +BMGC_DS15214,BMG_DS057095,"MACULAR DEGENERATION, AGE-RELATED, 15 | age related macular degeneration 15 | OMIM ID:615591 | DOID:0110027 | UMLS ID:C3810042 | MONDO:0014266" +BMGC_DS15215,BMG_DS057096,combined immunodeficiency due to OX40 deficiency | OMIM ID:615593 | UMLS ID:C3810053 | DOID:0111935 | MONDO:0014268 | IMMUNODEFICIENCY 16 | OMIM ID:600315 | immunodeficiency 16 +BMGC_DS15216,BMG_DS057097,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 | OMIM ID:613311 | DOID:0111476 | UMLS ID:C3810055 | OMIM ID:615595 | combined oxidative phosphorylation deficiency 19 | MONDO:0014269 +BMGC_DS15217,BMG_DS057098,UMLS ID:C3810062 | Congenital disorder of glycosylation type 1w | STT3A-CDG (congenital disorder of glycosylation) | Congenital disorder of glycosylation type Iw | Congenital disorder of glycosylation type 1w (disorder) | SNOMEDCT ID:733111000 +BMGC_DS15218,BMG_DS057099,"UMLS ID:C3810072 | Palmoplantar keratoderma Nagashima type (disorder) | Nagashima-type palmoplantar keratosis | palmoplantar keratoderma, Nagashima type | Palmoplantar keratoderma Nagashima type | MONDO:0014272 | DOID:0070555 | OMIM ID:615598 | SNOMEDCT ID:722205008" +BMGC_DS15219,BMG_DS057100,"UMLS ID:C3810080 | DOID:0081205 | OMIM ID:615599 | NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY | microcephaly-thin corpus callosum-intellectual disability syndrome | autosomal recessive intellectual developmental disorder 40 | MONDO:0014273 | OMIM ID:604912" +BMGC_DS15220,BMG_DS057101,LFTD - L-ferritin deficiency | MONDO:0014274 | SNOMEDCT ID:1217208003 | L-ferritin deficiency | L-ferritin deficiency (disorder) | OMIM ID:615604 | UMLS ID:C3810090 +BMGC_DS15221,BMG_DS057103,DOID:0080759 | OMIM ID:615605 | Fanconi renotubular syndrome 3 | OMIM ID:607037 | UMLS ID:C3810100 | FANCONI RENOTUBULAR SYNDROME 3 | MONDO:0014275 +BMGC_DS15222,BMG_DS057104,OMIM ID:615607 | MONDO:0014276 | UMLS ID:C3810107 | combined immunodeficiency due to CD3gamma deficiency | OMIM ID:186740 | IMMUNODEFICIENCY 17 | DOID:0111973 | immunodeficiency 17 +BMGC_DS15223,BMG_DS057105,immunodeficiency 18 | UMLS ID:C3810127 | DOID:0111971 | MONDO:0014278 | OMIM ID:186830 | OMIM ID:615615 | IMMUNODEFICIENCY 18 +BMGC_DS15224,BMG_DS057106,"immunodeficiency 18 | UMLS ID:C3810128 | OMIM ID:186830 | IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT | DOID:0111971 | OMIM ID:615615" +BMGC_DS15225,BMG_DS057107,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 | MONDO:0000908 | UMLS ID:C3810138 | OMIM ID:615616 | OMIM ID:607667 | arrhythmogenic right ventricular dysplasia 13" +BMGC_DS15226,BMG_DS057108,DOID:0111972 | OMIM ID:186790 | MONDO:0014280 | IMMUNODEFICIENCY 19 | immunodeficiency 19 | UMLS ID:C3810147 | OMIM ID:615617 +BMGC_DS15227,BMG_DS057109,"MONDO:0014281 | UMLS ID:C3810156 | OMIM ID:615619 | cholangiocarcinoma, susceptibility to" +BMGC_DS15228,BMG_DS057110,"autosomal dominant nonsyndromic hearing loss 56 | OMIM ID:187380 | MONDO:0014283 | UMLS ID:C3810170 | OMIM ID:615629 | DEAFNESS, AUTOSOMAL DOMINANT 56" +BMGC_DS15229,BMG_DS057111,MONDO:0014284 | UMLS ID:C3810175 | short-rib thoracic dysplasia 10 with or without polydactyly | SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY | OMIM ID:615630 | OMIM ID:607386 +BMGC_DS15230,BMG_DS057113,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | UMLS ID:C3810185 | congenital dyserythropoietic anemia type type 1B | OMIM ID:615631 | MONDO:0014285 | OMIM ID:615626" +BMGC_DS15231,BMG_DS057114,"MONDO:0014286 | NEUROPATHY, HEREDITARY SENSORY, TYPE IF | DOID:0070154 | hereditary sensory neuropathy type 1F | OMIM ID:615632 | OMIM ID:609369 | neuropathy, hereditary sensory, type 1F | UMLS ID:C3810194" +BMGC_DS15232,BMG_DS057115,UMLS ID:C3810200 | OMIM ID:613363 | SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY | OMIM ID:615633 | short-rib thoracic dysplasia 11 with or without polydactyly | MONDO:0014287 +BMGC_DS15233,BMG_DS057116,JOUBERT SYNDROME 21 | DOID:0110990 | Joubert syndrome 21 | OMIM ID:611654 | OMIM ID:615636 | MONDO:0014288 | UMLS ID:C3810212 +BMGC_DS15234,BMG_DS057117,OMIM ID:615637 | UMLS ID:C3810225 | MONDO:0014289 | macrocephaly-developmental delay syndrome +BMGC_DS15235,BMG_DS057118,MONDO:0014296 | WARBURG MICRO SYNDROME 4 | UMLS ID:C3810265 | OMIM ID:611663 | Warburg micro syndrome 4 | OMIM ID:615663 +BMGC_DS15236,BMG_DS057119,MONDO:0014297 | DOID:0110991 | OMIM ID:615665 | Joubert syndrome 22 | UMLS ID:C3810278 | OMIM ID:602676 | JOUBERT SYNDROME 22 +BMGC_DS15237,BMG_DS057120,chromosome 5q12 deletion syndrome | DOID:0060421 | CHROMOSOME 5q12 DELETION SYNDROME | UMLS ID:C3810282 | MONDO:0014298 | OMIM ID:615668 +BMGC_DS15238,BMG_DS057121,MONDO:0014299 | OMIM ID:615670 | LZTR1-related schwannomatosis | OMIM ID:600574 | SCHWANNOMATOSIS 2 | UMLS ID:C3810283 +BMGC_DS15239,BMG_DS057122,DOID:0111335 | proximal myopathy with extrapyramidal signs | MONDO:0014300 | OMIM ID:605084 | OMIM ID:615673 | myopathy with extrapyramidal signs | MYOPATHY WITH EXTRAPYRAMIDAL SIGNS | UMLS ID:C3810285 +BMGC_DS15240,BMG_DS057123,UMLS ID:C3810286 | dowling-degos disease 3 | OMIM ID:615674 | MONDO:0014301 | DOWLING-DEGOS DISEASE 3 +BMGC_DS15241,BMG_DS057124,"UMLS ID:C3810289 | hereditary spastic paraplegia 64 | MONDO:0014303 | OMIM ID:615683 | SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE | OMIM ID:601752" +BMGC_DS15242,BMG_DS057125,"UMLS ID:C3810294 | OMIM ID:615685 | MONDO:0014304 | SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE | OMIM ID:607669 | hereditary spastic paraplegia 61" +BMGC_DS15243,BMG_DS057126,"UMLS ID:C3810295 | OMIM ID:615686 | OMIM ID:102771 | hereditary spastic paraplegia 63 | MONDO:0014305 | SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE" +BMGC_DS15244,BMG_DS057127,DOWLING-DEGOS DISEASE 4 | OMIM ID:615618 | OMIM ID:615696 | UMLS ID:C3810313 | MONDO:0014307 | Dowling-Degos disease 4 +BMGC_DS15245,BMG_DS057128,"DOID:0060749 | OMIM ID:615697 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 6 | familial temporal lobe epilepsy 6 | UMLS ID:C3810320 | MONDO:0014308" +BMGC_DS15246,BMG_DS057129,UMLS ID:C3810324 | MORBID OBESITY AND SPERMATOGENIC FAILURE | obesity due to CEP19 deficiency | OMIM ID:615586 | MONDO:0014309 | OMIM ID:615703 +BMGC_DS15247,BMG_DS057130,"UMLS ID:C3810325 | MONDO:0014310 | hereditary sclerosing poikiloderma with tendon and pulmonary involvement | OMIM ID:615704 | POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS | OMIM ID:615584" +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 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | Salih ataxia | MONDO:0014311 | 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 | SCAR15 - autosomal recessive spinocerebellar ataxia type 15 | autosomal recessive spinocerebellar ataxia 15 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency | OMIM ID:615705 | SNOMEDCT ID:782721009 | Autosomal recessive spinocerebellar ataxia type 15" +BMGC_DS15249,BMG_DS057132,UMLS ID:C3810332 | OMIM ID:615706 | MONDO:0014312 | AURICULOCONDYLAR SYNDROME 3 | auriculocondylar syndrome 3 | OMIM ID:131240 +BMGC_DS15250,BMG_DS057133,MONDO:0014313 | DOID:0111941 | immunodeficiency 20 | UMLS ID:C3810342 | IMMUNODEFICIENCY 20 | OMIM ID:146740 | autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | OMIM ID:615707 +BMGC_DS15251,BMG_DS057134,MONDO:0014314 | sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | OMIM ID:601397 | OMIM ID:615709 | SACRAL AGENESIS WITH VERTEBRAL ANOMALIES | UMLS ID:C3810343 +BMGC_DS15252,BMG_DS057135,OMIM ID:615711 | Alzheimer disease 19 | DOID:0110051 | Alzheimer's disease 19 | ALZHEIMER DISEASE 19 | MONDO:0014316 | UMLS ID:C3810349 +BMGC_DS15253,BMG_DS057136,UMLS ID:C3810350 | OMIM ID:615715 | BONE MARROW FAILURE SYNDROME 2 | MONDO:0014317 | pancytopenia-developmental delay syndrome | OMIM ID:615667 +BMGC_DS15254,BMG_DS057137,hyperphosphatasia with intellectual disability syndrome 4 | hyperphosphatasia with impaired intellectual development syndrome 4 | HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 | OMIM ID:615716 | UMLS ID:C3810354 | MONDO:0014318 | DOID:0070436 | OMIM ID:611801 +BMGC_DS15255,BMG_DS057138,renal hypodysplasia/aplasia 2 | OMIM ID:605558 | UMLS ID:C3810359 | RENAL HYPODYSPLASIA/APLASIA 2 | MONDO:0014319 | OMIM ID:615721 +BMGC_DS15256,BMG_DS057139,"OMIM ID:615722 | Optic atrophy, intellectual disability syndrome | MONDO:0014320 | Bosch Boonstra Schaaf optic atrophy syndrome | BBSOAS - Bosch Boonstra Schaaf optic atrophy syndrome | Optic atrophy, intellectual disability syndrome (disorder) | SNOMEDCT ID:770723007 | UMLS ID:C3810363 | Bosch-Boonstra-Schaaf optic atrophy syndrome" +BMGC_DS15257,BMG_DS057141,MONDO:0014321 | premature ovarian failure 8 | OMIM ID:615723 | OMIM ID:608489 | PREMATURE OVARIAN FAILURE 8 | DOID:0080865 | primary ovarian insufficiency 8 | UMLS ID:C3810367 +BMGC_DS15258,BMG_DS057142,PREMATURE OVARIAN FAILURE 9 | OMIM ID:615724 | OMIM ID:615684 | MONDO:0014322 | DOID:0080866 | primary ovarian insufficiency 9 | UMLS ID:C3810376 | premature ovarian failure 9 +BMGC_DS15259,BMG_DS057143,RETINITIS PIGMENTOSA 68 | retinitis pigmentosa 68 | UMLS ID:C3810380 | OMIM ID:615725 | OMIM ID:615720 | MONDO:0014323 +BMGC_DS15260,BMG_DS057144,UMLS ID:C3810384 | MONDO:0014326 | OMIM ID:607701 | nemaline myopathy 9 | DOID:0110929 | NEMALINE MYOPATHY 9 | OMIM ID:615731 +BMGC_DS15261,BMG_DS057145,"focal or diffuse nonepidermolytic palmoplantar keratoderma | MONDO:0014327 | palmoplantar keratoderma, nonepidermolytic, focal or diffuse | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE | OMIM ID:615735 | UMLS ID:C3810394 | DOID:0111710" +BMGC_DS15262,BMG_DS057146,"OMIM ID:615744 | UMLS ID:C3810400 | MONDO:0014328 | developmental and epileptic encephalopathy, 19" +BMGC_DS15263,BMG_DS057147,OMIM ID:108780 | atrial standstill 2 | DOID:0080663 | ATRIAL STANDSTILL 2 | OMIM ID:615745 | UMLS ID:C3810401 | MONDO:0014329 +BMGC_DS15264,BMG_DS057148,"OMIM ID:120900 | ECULIZUMAB, POOR RESPONSE TO | OMIM ID:615749 | UMLS ID:C3810402" +BMGC_DS15265,BMG_DS057149,UMLS ID:C3810403 | MONDO:0014331 | MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA | OMIM ID:615750 | Moyamoya disease with early-onset achalasia +BMGC_DS15266,BMG_DS057150,"CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO | UMLS ID:C3810404 | OMIM ID:615751 | hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | MONDO:0014332 | OMIM ID:114761" +BMGC_DS15267,BMG_DS057151,"POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE | UMLS ID:C3810405 | MONDO:0014333 | bilateral perisylvian polymicrogyria | OMIM ID:615752 | polymicrogyria, bilateral perisylvian, autosomal recessive | DOID:0080924" +BMGC_DS15268,BMG_DS057152,OMIM ID:615761 | intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | UMLS ID:C3810406 | MONDO:0014336 +BMGC_DS15269,BMG_DS057153,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 | UMLS ID:C3810407 | DOID:0090135 | OMIM ID:615763 | MONDO:0014337 | OMIM ID:615101 | complex cortical dysplasia with other brain malformations 5" +BMGC_DS15270,BMG_DS057154,SNOMEDCT ID:1268466004 | Low frequency sensorineural hearing loss (disorder) | Low tone sensorineural hearing loss | Low frequency sensorineural hearing loss | UMLS ID:C3810445 +BMGC_DS15271,BMG_DS057168,"Mycoplasma pneumoniae Infection | MeSH ID:D011019 | Pneumonia, Mycoplasma | UMLS ID:C3824874 | Mycoplasma pneumoniae pneumonia | DOID:13276" +BMGC_DS15272,BMG_DS057182,SNOMEDCT ID:39149004 | SNOMEDCT ID:194201001 | Acute bacterial otitis externa | Tank ear | beach ear | Acute bacterial otitis externa (disorder) | Beach ear | UMLS ID:C3831782 | Acute swimmer's ear (disorder) | SNOMEDCT ID:700220003 | Acute swimmers' ear | Acute swimmer's ear | Acute bacterial inflammation of external ear (disorder) | Acute diffuse otitis externa | Acute bacterial inflammation of external ear | DOID:10518 +BMGC_DS15273,BMG_DS057187,"Meckel syndrome, type 8 | MECKEL SYNDROME, TYPE 8 | OMIM ID:613885 | UMLS ID:C3836857 | MONDO:0013482 | OMIM ID:613846" +BMGC_DS15274,BMG_DS057188,"UMLS ID:C3837651 | OMIM ID:102680 | HYPERTENSION, SALT-SENSITIVE ESSENTIAL, SUSCEPTIBILITY TO | OMIM ID:605325" +BMGC_DS15275,BMG_DS057190,"MeSH ID:D003922 | diabetes mellitus, ketosis-prone | UMLS ID:C3837958 | Diabetes Mellitus, Ketosis-Prone | MONDO:0100180 | OMIM ID:612227 | Diabetes Mellitus, Type 1" +BMGC_DS15276,BMG_DS057191,"pulmonary disease, chronic obstructive, susceptibility to | UMLS ID:C3838076 | MONDO:0100167" +BMGC_DS15277,BMG_DS057201,SNOMEDCT ID:703232003 | Dexamethasone-sensitive hypertension | DOID:14080 | GRA - glucocorticoid-remediable aldosteronism | Familial hyperaldosteronism type I | glucocorticoid-remediable aldosteronism | Familial hyperaldosteronism type 1 | Glucocorticoid-sensitive hypertension | UMLS ID:C3838731 | OMIM ID:103900 | Familial hyperaldosteronism type 1 (disorder) | MONDO:0007080 | Glucocorticoid-remediable aldosteronism | Glucocorticoid-suppressible hyperaldosteronism +BMGC_DS15278,BMG_DS057208,MONDO:0013359 | familial hyperaldosteronism type III | Familial hyperaldosteronism type 3 | SNOMEDCT ID:703234002 | UMLS ID:C3838758 | Familial hyperaldosteronism type 3 (disorder) | OMIM ID:613677 +BMGC_DS15279,BMG_DS057238,MONDO:0019524 | SNOMEDCT ID:700112007 | Bartter's syndrome type 4 | Bartter syndrome type 4 (disorder) | Bartter syndrome type 4 | UMLS ID:C3838860 +BMGC_DS15280,BMG_DS057244,UMLS ID:C3838883 | MONDO:0019325 | phakomatosis cesioflammea +BMGC_DS15281,BMG_DS057317,Cerebrofacial arteriovenous metameric syndrome (disorder) | Cerebrofacial arteriovenous metameric syndrome | MONDO:0015405 | UMLS ID:C3839265 | cerebrofacial arteriovenous metameric syndrome | SNOMEDCT ID:703266007 +BMGC_DS15282,BMG_DS057323,phakomatosis cesiomarmorata | UMLS ID:C3839296 | MONDO:0019326 +BMGC_DS15283,BMG_DS057422,UMLS ID:C3839745 | DOID:7839 | infiltrating nipple syringomatous adenoma | MONDO:0004376 +BMGC_DS15284,BMG_DS057442,UMLS ID:C3839822 | DICER1-related tumor predisposition | MONDO:0100216 +BMGC_DS15285,BMG_DS057455,UMLS ID:C3839866 | MONDO:0016483 | Familial berry aneurysm | intracranial berry aneurysm | Familial cerebral saccular aneurysm | Familial intracranial saccular aneurysm | SNOMEDCT ID:703226008 | Familial cerebral saccular aneurysm (disorder) +BMGC_DS15286,BMG_DS057468,UMLS ID:C3839921 | diffuse lymphatic malformation | MONDO:0015408 +BMGC_DS15287,BMG_DS057553,UMLS ID:C3840223 | MONDO:0003191 | DOID:4894 | rete ovarii adenocarcinoma +BMGC_DS15288,BMG_DS057557,UMLS ID:C3840252 | MONDO:0975754 | pseudomyogenic hemangioendothelioma +BMGC_DS15289,BMG_DS057562,Beta plus thalassemia | Beta plus thalassemia (disorder) | Beta plus thalassaemia | SNOMEDCT ID:79592006 | beta plus thalassaemia | UMLS ID:C3841475 | beta plus thalassemia +BMGC_DS15290,BMG_DS057566,UMLS ID:C3852984 | Acute Mesenteric Arterial Embolus | MeSH ID:D065666 | Mesenteric Ischemia +BMGC_DS15291,BMG_DS057567,UMLS ID:C3852985 | MeSH ID:D065666 | Occlusive Mesenteric Arterial Ischemia | Mesenteric Ischemia +BMGC_DS15292,BMG_DS057568,MeSH ID:D065666 | Nonocclusive Mesenteric Ischemia | UMLS ID:C3852986 | Mesenteric Ischemia +BMGC_DS15293,BMG_DS057569,Acute Mesenteric Arterial Thrombosis | Mesenteric Ischemia | MeSH ID:D065666 | UMLS ID:C3852987 +BMGC_DS15294,BMG_DS057571,MeSH ID:D008831 | UMLS ID:C3853041 | Microcephaly | Severe Congenital Microcephaly +BMGC_DS15295,BMG_DS057578,UMLS ID:C3853541 | Erosive Duodenitis | MeSH ID:D004382 | Duodenitis +BMGC_DS15296,BMG_DS057580,"Thrombocytopenia, Neonatal Alloimmune | Neonatal Alloimmune Thrombocytopenia | UMLS ID:C3853779 | 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 associated with Human immunodeficiency virus infection | SNOMEDCT ID:705149003 | Lipodystrophy due to Human immunodeficiency virus infection and antiretroviral therapy (disorder) +BMGC_DS15298,BMG_DS057586,DOID:0111530 | linear nevus sebaceous syndrome | UMLS ID:C3854181 +BMGC_DS15299,BMG_DS057595,"UMLS ID:C3854373 | Morvan syndrome (disorder) | Limbic encephalitis, neuromyotonia, hyperhidrosis, polyneuropathy syndrome | Morvan syndrome | MONDO:0008718 | Morvan fibrillary chorea | SNOMEDCT ID:763803004" +BMGC_DS15300,BMG_DS057597,isolated hyperferritinemia | OMIM ID:MTHU070680 | UMLS ID:C3854388 | Hyperferritinemia | OMIM ID:620729 | MONDO:0958237 | MeSH ID:D000085583 +BMGC_DS15301,BMG_DS057607,fetal and neonatal alloimmune thrombocytopenia | UMLS ID:C3854603 | MONDO:0019415 +BMGC_DS15302,BMG_DS057716,Recurrent candidiasis of vagina | UMLS ID:C3872606 | Recurrent candidiasis of vagina (disorder) | SNOMEDCT ID:708126004 +BMGC_DS15303,BMG_DS057727,Pulmonary emphysema co-occurrent with fibrosis of lung (disorder) | combined pulmonary fibrosis-emphysema syndrome | UMLS ID:C3872815 | SNOMEDCT ID:708030004 | CPFE - combined pulmonary fibrosis and emphysema | Pulmonary emphysema co-occurrent with fibrosis of lung | Combined pulmonary fibrosis and emphysema syndrome | MONDO:0017591 +BMGC_DS15304,BMG_DS057831,Dust Mite Allergy | UMLS ID:C3873561 | MeSH ID:D000092542 | Dermatophagoides pteronyssinus Allergy +BMGC_DS15305,BMG_DS057850,UMLS ID:C3874315 | second branchial cleft anomaly | MONDO:0007233 | OMIM ID:113600 +BMGC_DS15306,BMG_DS057861,Therapeutic opioid induced constipation (disorder) | SNOMEDCT ID:136801000119102 | UMLS ID:C3874358 | Therapeutic opioid induced constipation +BMGC_DS15307,BMG_DS057873,SNOMEDCT ID:29731000119103 | Intestinal haemorrhage due to angiodysplasia of intestine | Intestinal hemorrhage due to angiodysplasia of intestine | UMLS ID:C3874401 | Intestinal hemorrhage due to angiodysplasia of intestine (disorder) +BMGC_DS15308,BMG_DS057934,Familial hyperalphalipoproteinemia | Familial hyperalphalipoproteinemia (disorder) | MONDO:0007744 | Familial hyperalphalipoproteinaemia | OMIM ID:143470 | UMLS ID:C3875011 | cholesterol-ester transfer protein deficiency | SNOMEDCT ID:15771000119109 +BMGC_DS15309,BMG_DS057996,UMLS ID:C3875286 | Complex dyslipidemia (disorder) | SNOMEDCT ID:109041000119107 | Complex dyslipidemia +BMGC_DS15310,BMG_DS058001,MONDO:0002406 | dermatitis | Dermatitis | UMLS ID:C3875321 | Inflammatory dermatosis | Inflammatory dermatosis (disorder) | SNOMEDCT ID:703938007 +BMGC_DS15311,BMG_DS058022,Dust Mite Allergy | UMLS ID:C3875472 | Dermatophagoides farinae Allergy | MeSH ID:D000092542 +BMGC_DS15312,BMG_DS058038,"UMLS ID:C3882647 | MeSH ID:C563515 | Neutrophil Chemotactic Response, Abnormal" +BMGC_DS15313,BMG_DS058041,"MONDO:0008000 | OMIM ID:157300 | UMLS ID:C3887485 | migraine with or without aura, susceptibility to, 1" +BMGC_DS15314,BMG_DS058042,SNOMEDCT ID:715704001 | postaxial polydactyly type A | Postaxial polydactyly type A (disorder) | Postaxial polydactyly type A | UMLS ID:C3887487 | MONDO:0019673 +BMGC_DS15315,BMG_DS058045,"ectodermal dysplasia 10B | MONDO:0009147 | ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | OMIM ID:224900 | OMIM ID:604095 | UMLS ID:C3887494 | DOID:0111665 | ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE" +BMGC_DS15316,BMG_DS058047,"UMLS ID:C3887497 | bifid nose, autosomal recessive | MONDO:0008866 | OMIM ID:210400" +BMGC_DS15317,BMG_DS058048,Cyst of kidney (disorder) | Cyst of kidney | Renal cyst | OMIM ID:MTHU019013 | SNOMEDCT ID:722223000 | MONDO:0002473 | cystic kidney disease | UMLS ID:C3887499 +BMGC_DS15318,BMG_DS058049,"OMIM ID:608709 | MONDO:0100476 | UMLS ID:C3887501 | lipodystrophy, partial, acquired, susceptibility to" +BMGC_DS15319,BMG_DS058050,UMLS ID:C3887506 | SNOMEDCT ID:44548000 | Hyperkinesia | Hyperkinesis | Hyperactive behavior | Hyperactive behavior (finding) | MeSH ID:D006948 | Hyperactive behaviour | HA - Hyperactivity | OMIM ID:MTHU026101 | Increased purposeful goal-directed activity +BMGC_DS15320,BMG_DS058052,OMIM ID:201475 | Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | Very long chain acyl-coenzyme A dehydrogenase deficiency | very long chain acyl-CoA dehydrogenase deficiency | MONDO:0008723 | SNOMEDCT ID:237997005 | Very long chain acyl-CoA dehydrogenase deficiency | VLCAD - Very long chain acyl-CoA dehydrogenase deficiency | UMLS ID:C3887523 +BMGC_DS15321,BMG_DS058053,"keratosis follicularis spinulosa decalvans, X-linked | Keratosis Follicularis Spinulosa Decalvans, X-Linked | MONDO:0010637 | UMLS ID:C3887525 | OMIM ID:308800 | MeSH ID:C536159" +BMGC_DS15322,BMG_DS058054,osteoarthritis susceptibility 2 | MONDO:0007704 | OMIM ID:140600 | UMLS ID:C3887526 +BMGC_DS15323,BMG_DS058055,Keratoglobus (disorder) | UMLS ID:C3887531 | Keratoconus | SNOMEDCT ID:388840007 | OMIM ID:MTHU012982 | Keratoglobus | MeSH ID:D007640 | Cornea globular +BMGC_DS15324,BMG_DS058058,"UMLS ID:C3887558 | MeSH ID:D051359 | Hemophagocytic Syndrome | Lymphohistiocytosis, Hemophagocytic | MONDO:0015540 | hemophagocytic syndrome" +BMGC_DS15325,BMG_DS058062,"OMIM ID:611204 | MONDO:0009360 | HYDROCEPHALUS, CONGENITAL, 1 | hydrocephalus, nonsyndromic, autosomal recessive 1 | OMIM ID:236600 | UMLS ID:C3887608" +BMGC_DS15326,BMG_DS058063,"UMLS ID:C3887633 | Dandy-Walker Syndrome, Familial | MeSH ID:D003616 | Dandy-Walker Syndrome" +BMGC_DS15327,BMG_DS058065,SNOMEDCT ID:84568007 | Atrophic gastritis | Atrophic gastritis (disorder) | Gastric atrophy | Chronic atrophic gastritis | CAG - Chronic atrophic gastritis | Autoimmune gastritis | AG - Atrophic gastritis | UMLS ID:C3887639 | MONDO:0031014 | autoimmune gastritis +BMGC_DS15328,BMG_DS058067,hyper-IgE syndrome | MeSH ID:D007589 | Job Syndrome | UMLS ID:C3887645 | MONDO:0018037 +BMGC_DS15329,BMG_DS058068,UMLS ID:C3887650 | MeSH ID:D010018 | Adult Rickets | Osteomalacia +BMGC_DS15330,BMG_DS058070,"vasculitis due to ADA2 deficiency | POLYARTERITIS NODOSA, CHILDHOOD-ONSET | OMIM ID:615688 | MONDO:0014306 | UMLS ID:C3887654" +BMGC_DS15331,BMG_DS058071,"MONDO:0020713 | UMLS ID:C3887658 | OMIM ID:265450 | PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT | pulmonary venoocclusive disease 1 | DOID:0081268" +BMGC_DS15332,BMG_DS058074,Trichinosis caused by Trichinella spiralis | Infection by larvae of Trichinella spiralis | UMLS ID:C3887668 | Trichinellosis caused by Trichinella spiralis | MONDO:0042458 | Trichiniasis caused by Trichinella spiralis | Infection caused by larvae of Trichinella spiralis | Infection caused by larvae of Trichinella spiralis (disorder) | Trichinelliasis caused by Trichinella spiralis | SNOMEDCT ID:88264003 | Trichinella spiralis infectious disease +BMGC_DS15333,BMG_DS058079,optic nerve disorder | MONDO:0002135 | UMLS ID:C3887709 +BMGC_DS15334,BMG_DS058080,OMIM ID:194071 | Wilms tumor 2 | UMLS ID:C3887743 | WILMS TUMOR 2 | OMIM ID:616186 | MONDO:0008680 | OMIM ID:605982 +BMGC_DS15335,BMG_DS058082,UMLS ID:C3887876 | OMIM ID:165720 | osteoarthritis susceptibility 1 | MONDO:0008143 +BMGC_DS15336,BMG_DS058085,aortic valve disease 1 | Aortic Valve Disease 1 | DOID:0080332 | Bicuspid Aortic Valve Disease | OMIM ID:109730 | MeSH ID:D000082882 | UMLS ID:C3887892 | bicuspid aortic valve disease | MONDO:0024523 +BMGC_DS15337,BMG_DS058087,Infection by Yersinia enterocolitica | Intestinal infections due to Yersinia enterocolitica | Infection caused by Yersinia enterocolitica (disorder) | Infection caused by Yersinia enterocolitica | SNOMEDCT ID:80960004 | SNOMEDCT ID:711167005 | Enteritis caused by Yersinia enterocolitica | Enteritis due to Yersinia enterocolitica | UMLS ID:C3887894 | ICD10 ID:A04.6 | Enteritis caused by Yersinia enterocolitica (disorder) | ICD11 ID:1A05 +BMGC_DS15338,BMG_DS058091,"CATARACT 32, MULTIPLE TYPES | MONDO:0007278 | OMIM ID:115650 | cataract 32 multiple types | UMLS ID:C3887926" +BMGC_DS15339,BMG_DS058092,"autosomal dominant nonsyndromic hearing loss 27 | UMLS ID:C3887929 | MONDO:0012902 | OMIM ID:612431 | DEAFNESS, AUTOSOMAL DOMINANT 27 | OMIM ID:600571" +BMGC_DS15340,BMG_DS058093,"UMLS ID:C3887930 | MONDO:0013632 | DEAFNESS, AUTOSOMAL DOMINANT 33 | autosomal dominant nonsyndromic hearing loss 33 | OMIM ID:614211" +BMGC_DS15341,BMG_DS058094,"DOID:0111321 | myoclonic epilepsy, juvenile, 2 | UMLS ID:C3887932 | idiopathic generalized epilepsy 7 | MYOCLONIC EPILEPSY, JUVENILE, 2 | OMIM ID:604827 | MONDO:0800330" +BMGC_DS15342,BMG_DS058095,"cone dystrophy 5, X-linked | UMLS ID:C3887937 | blue cone monochromacy | OMIM ID:303700 | DOID:0050679 | MONDO:0800319 | CONE DYSTROPHY 5, X-LINKED | OMIM ID:300821" +BMGC_DS15343,BMG_DS058096,UMLS ID:C3887938 | ICD10 ID:H53.53 | Deuteranopia | SNOMEDCT ID:77479002 | Deuteranomaly | Deutan defect | Deutan defect (disorder) +BMGC_DS15344,BMG_DS058097,"UMLS ID:C3887939 | MONDO:0010451 | OMIM ID:300849 | OMIM ID:300104 | DOID:0112058 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 | non-syndromic X-linked intellectual disability 41 | intellectual disability, X-linked 41" +BMGC_DS15345,BMG_DS058098,"UMLS ID:C3887942 | OMIM ID:606689 | GLAUCOMA 1, OPEN ANGLE, B" +BMGC_DS15346,BMG_DS058100,DOID:0110860 | polycystic kidney disease 3 with or without polycystic liver disease | OMIM ID:104160 | UMLS ID:C3887964 | MONDO:0010916 | polycystic kidney disease 3 | OMIM ID:600666 | POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE +BMGC_DS15347,BMG_DS058101,"UMLS ID:C3887971 | RETINAL DYSPLASIA, PRIMARY | OMIM ID:312550" +BMGC_DS15348,BMG_DS058102,Protanopia | Protan defect (disorder) | Protanomaly | SNOMEDCT ID:51445007 | UMLS ID:C3887980 | ICD10 ID:H53.54 | Protan defect +BMGC_DS15349,BMG_DS058104,MONDO:0010259 | RETINITIS PIGMENTOSA 24 | retinitis pigmentosa 24 | UMLS ID:C3887982 | OMIM ID:300155 +BMGC_DS15350,BMG_DS058105,SPINOCEREBELLAR ATAXIA 9 | DOID:0111747 | UMLS ID:C3887996 | OMIM ID:612876 | MONDO:0013029 | cerebellar ataxia type 9 +BMGC_DS15351,BMG_DS058106,HERMANSKY-PUDLAK SYNDROME 3 | Hermansky-Pudlak syndrome 3 | OMIM ID:606118 | DOID:0060541 | OMIM ID:614072 | UMLS ID:C3888001 | MONDO:0013555 +BMGC_DS15352,BMG_DS058107,"UMLS ID:C3888002 | OMIM ID:603295 | OMIM ID:615342 | PULMONARY HYPERTENSION, PRIMARY, 2 | MONDO:0014134 | pulmonary hypertension, primary, 2" +BMGC_DS15353,BMG_DS058108,HERMANSKY-PUDLAK SYNDROME 5 | MONDO:0013557 | Hermansky-Pudlak syndrome 5 | DOID:0060543 | OMIM ID:607521 | UMLS ID:C3888004 | OMIM ID:614074 +BMGC_DS15354,BMG_DS058109,OMIM ID:614075 | Hermansky-Pudlak syndrome 6 | HERMANSKY-PUDLAK SYNDROME 6 | MONDO:0013558 | OMIM ID:607522 | DOID:0060544 | UMLS ID:C3888007 +BMGC_DS15355,BMG_DS058110,"MACULAR DYSTROPHY, RETINAL, 3 | UMLS ID:C3888009 | MONDO:0012139 | DOID:0070440 | macular dystrophy, retinal, 3 | retinal macular dystrophy 3 | OMIM ID:608850" +BMGC_DS15356,BMG_DS058112,MeSH ID:D044903 | UMLS ID:C3888018 | Congenital Hyperinsulinism | MONDO:0017182 | familial hyperinsulinism +BMGC_DS15357,BMG_DS058113,UMLS ID:C3888024 | Olfaction Disorders | MeSH ID:D000857 | Cacosmia +BMGC_DS15358,BMG_DS058114,UMLS ID:C3888026 | OMIM ID:614077 | Hermansky-Pudlak syndrome 8 | HERMANSKY-PUDLAK SYNDROME 8 | DOID:0060546 | OMIM ID:609762 | MONDO:0013560 +BMGC_DS15359,BMG_DS058116,"DEAFNESS, AUTOSOMAL DOMINANT 54 | autosomal dominant nonsyndromic hearing loss 54 | UMLS ID:C3888029 | MONDO:0014291 | OMIM ID:615649" +BMGC_DS15360,BMG_DS058117,"MONDO:0012903 | DEAFNESS, AUTOSOMAL RECESSIVE 45 | autosomal recessive nonsyndromic hearing loss 45 | OMIM ID:612433 | UMLS ID:C3888030" +BMGC_DS15361,BMG_DS058118,MONDO:0013485 | OMIM ID:613900 | DOID:0050982 | UMLS ID:C3888031 | spinocerebellar ataxia type 35 | SPINOCEREBELLAR ATAXIA 35 | OMIM ID:613908 +BMGC_DS15362,BMG_DS058120,"ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT | MONDO:0007509 | ectodermal dysplasia 10A | OMIM ID:129490 | UMLS ID:C3888065 | ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | DOID:0111663" +BMGC_DS15363,BMG_DS058121,"OMIM ID:400043 | hearing loss, Y-linked 1 | DOID:0111759 | MONDO:0010764 | UMLS ID:C3888076 | DEAFNESS, Y-LINKED 1 | Y-linked deafness 1" +BMGC_DS15364,BMG_DS058122,"Charcot-Marie-Tooth disease, Type 2I | UMLS ID:C3888087 | MeSH ID:C535416 | DOID:0110158 | OMIM ID:607677 | Charcot-Marie-Tooth disease type 2I | MONDO:0011889" +BMGC_DS15365,BMG_DS058123,MONDO:0011814 | UMLS ID:C3888088 | DOID:0081270 | OMIM ID:607326 | Smith-McCort dysplasia 1 | SMITH-MCCORT DYSPLASIA 1 | OMIM ID:607461 +BMGC_DS15366,BMG_DS058124,"MONDO:0010228 | Deafness, X-Linked 3 | MeSH ID:C564727 | hearing loss, X-linked 3 | UMLS ID:C3888089 | OMIM ID:300030" +BMGC_DS15367,BMG_DS058125,MeSH ID:C538005 | Early onset torsion dystonia | UMLS ID:C3888090 +BMGC_DS15368,BMG_DS058126,"OMIM ID:603741 | autosomal recessive congenital ichthyosis 2 | OMIM ID:242100 | UMLS ID:C3888093 | MONDO:0009439 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2" +BMGC_DS15369,BMG_DS058128,"autosomal dominant vitreoretinochoroidopathy | Autosomal dominant vitreoretinochoroidopathy with nanophthalmos | SNOMEDCT ID:711162004 | UMLS ID:C3888099 | Vitreoretinochoroidopathy with microcornea, glaucoma and cataract | Autosomal dominant vitreoretinochoroidopathy (disorder) | OMIM ID:193220 | MONDO:0008662 | DOID:0111569 | Autosomal dominant vitreoretinochoroidopathy" +BMGC_DS15370,BMG_DS058129,frontotemporal dementia with motor neuron disease | UMLS ID:C3888102 | MeSH ID:C566288 | Frontotemporal Dementia With Motor Neuron Disease | MONDO:0017161 +BMGC_DS15371,BMG_DS058130,fibronectin glomerulopathy | Glomerulopathy with fibronectin deposits | UMLS ID:C3888104 | MeSH ID:C536826 | Fibronectin glomerulopathy | MONDO:0007671 | Fibronectin glomerulopathy (disorder) | SNOMEDCT ID:818952002 +BMGC_DS15372,BMG_DS058131,"OMIM ID:126200 | MONDO:0021571 | multiple sclerosis, susceptibility to 1 | UMLS ID:C3888106" +BMGC_DS15373,BMG_DS058133,"MONDO:0013114 | DEAFNESS, AUTOSOMAL DOMINANT 50 | UMLS ID:C3888123 | OMIM ID:611606 | autosomal dominant nonsyndromic hearing loss 50 | OMIM ID:613074" +BMGC_DS15374,BMG_DS058134,"UMLS ID:C3888124 | MONDO:0012688 | CATARACT 17, MULTIPLE TYPES | OMIM ID:611544 | cataract 17 multiple types" +BMGC_DS15375,BMG_DS058135,"UMLS ID:C3888198 | OMIM ID:611809 | autosomal recessive bestrophinopathy | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | MONDO:0012733 | OMIM ID:607854" +BMGC_DS15376,BMG_DS058136,APOLIPOPROTEIN A-II DEFICIENCY | OMIM ID:107670 | UMLS ID:C3888202 +BMGC_DS15377,BMG_DS058137,OMIM ID:617749 | UMLS ID:C3888204 | OMIM ID:102574 | ACTN3 DEFICIENCY +BMGC_DS15378,BMG_DS058138,"UMLS ID:C3888208 | hereditary spastic paraplegia 41 | OMIM ID:613364 | MONDO:0013239 | SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT" +BMGC_DS15379,BMG_DS058139,"UMLS ID:C3888209 | OMIM ID:613162 | hereditary spastic paraplegia 45 | MONDO:0013165 | SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE" +BMGC_DS15380,BMG_DS058140,"DEAFNESS, AUTOSOMAL DOMINANT 58 | OMIM ID:615654 | MONDO:0014293 | autosomal dominant nonsyndromic hearing loss 58 | UMLS ID:C3888210" +BMGC_DS15381,BMG_DS058141,"UMLS ID:C3888211 | OMIM ID:608367 | MONDO:0012021 | myopia 17, autosomal dominant | MYOPIA 17, AUTOSOMAL DOMINANT" +BMGC_DS15382,BMG_DS058142,MONDO:0013358 | DOID:0070010 | UMLS ID:C3888212 | OMIM ID:613676 | SECKEL SYNDROME 4 | Seckel syndrome 4 | OMIM ID:609279 +BMGC_DS15383,BMG_DS058143,"OMIM ID:142623 | UMLS ID:C3888239 | MONDO:0007723 | Hirschsprung disease, susceptibility to, 1" +BMGC_DS15384,BMG_DS058144,OMIM ID:606951 | Aicardi-Goutieres syndrome 7 | UMLS ID:C3888244 | AICARDI-GOUTIERES SYNDROME 7 | MONDO:0014367 | OMIM ID:615846 +BMGC_DS15385,BMG_DS058145,"neuronopathy, distal hereditary motor, type 2D | OMIM ID:615575 | MONDO:0014259 | UMLS ID:C3888271" +BMGC_DS15386,BMG_DS058146,"UMLS ID:C3888307 | DOID:0070028 | APP-related cerebral amyloid angiopathy | OMIM ID:605714 | MONDO:0017948 | ABetaA21G amyloidosis | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | OMIM ID:104760" +BMGC_DS15387,BMG_DS058147,"ABeta amyloidosis, Italian type | DOID:0070028 | UMLS ID:C3888308 | APP-related cerebral amyloid angiopathy | OMIM ID:605714 | MONDO:0017947 | OMIM ID:104760 | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT" +BMGC_DS15388,BMG_DS058148,"DOID:0070028 | APP-related cerebral amyloid angiopathy | ABeta amyloidosis, Iowa type | MONDO:0017946 | OMIM ID:605714 | UMLS ID:C3888309 | OMIM ID:104760 | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT" +BMGC_DS15389,BMG_DS058149,"MONDO:0013365 | UMLS ID:C3888310 | DEAFNESS, AUTOSOMAL RECESSIVE 83 | OMIM ID:613685 | autosomal recessive nonsyndromic hearing loss 83" +BMGC_DS15390,BMG_DS058151,"MeSH ID:C000598744 | familial idiopathic inflammatory myopathy | OMIM ID:160750 | UMLS ID:C3888318 | Myopathy, familial idiopathic inflammatory | MONDO:0600024" +BMGC_DS15391,BMG_DS058152,"OMIM ID:614414 | MONDO:0013738 | DEAFNESS, AUTOSOMAL RECESSIVE 96 | UMLS ID:C3888337 | autosomal recessive nonsyndromic hearing loss 96" +BMGC_DS15392,BMG_DS058153,"GLAUCOMA 1, OPEN ANGLE, P | UMLS ID:C3888338 | OMIM ID:177700 | MONDO:0008328 | glaucoma 1, open angle, P" +BMGC_DS15393,BMG_DS058154,OMIM ID:615589 | otosclerosis 10 | MONDO:0014264 | UMLS ID:C3888339 | OTOSCLEROSIS 10 | DOID:0060927 +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,OMIM ID:614872 | MONDO:0013938 | UMLS ID:C3888385 | peroxisome biogenesis disorder 7A (Zellweger) +BMGC_DS15396,BMG_DS058158,MONDO:0014127 | oculocutaneous albinism type 5 | UMLS ID:C3888401 | OMIM ID:615312 +BMGC_DS15397,BMG_DS058159,"OMIM ID:116800 | CATARACT 5, MULTIPLE TYPES | UMLS ID:C3888417" +BMGC_DS15398,BMG_DS058160,MONDO:0031012 | UMLS ID:C3888523 | autoimmune uveitis +BMGC_DS15399,BMG_DS058161,UMLS ID:C3888631 | MONDO:0015967 | monogenic diabetes +BMGC_DS15400,BMG_DS058162,"UMLS ID:C3888668 | Pancreatitis, Acute Necrotizing | MeSH ID:D019283 | Hemorrhagic Necrotic Pancreatitis | DOID:0080998 | acute necrotizing pancreatitis" +BMGC_DS15401,BMG_DS058163,UMLS ID:C3888846 | Hyperglycemic Hyperosmolar Nonketotic Coma | MeSH ID:D006944 | Hyperosmolar Hyperglycemic State +BMGC_DS15402,BMG_DS058166,"UMLS ID:C3888924 | Pompe disease, infantile onset | SNOMEDCT ID:722302009 | Glycogenosis due to acid maltase deficiency, infantile onset | glycogen storage disease due to acid maltase deficiency, infantile onset | MONDO:0017694 | Glycogenosis type II, infantile onset | Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder) | Glycogen storage disease due to acid maltase deficiency, infantile onset | Glycogen storage disease type II infantile onset" +BMGC_DS15403,BMG_DS058167,Cryptococcus gattii Infection | Cryptococcosis | UMLS ID:C3888929 | MeSH ID:D003453 +BMGC_DS15404,BMG_DS058169,Non-Radiographic Axial Spondyloarthritis | MeSH ID:D000089202 | UMLS ID:C3889038 +BMGC_DS15405,BMG_DS058170,Bardet-Biedl syndrome 16 | MONDO:0014444 | OMIM ID:613524 | OMIM ID:615993 | UMLS ID:C3889474 | BARDET-BIEDL SYNDROME 16 +BMGC_DS15406,BMG_DS058171,UMLS ID:C3889475 | OMIM ID:615996 | BARDET-BIEDL SYNDROME 19 | OMIM ID:615870 | Bardet-Biedl syndrome 19 | MONDO:0014447 +BMGC_DS15407,BMG_DS058172,DOID:0050984 | MONDO:0014410 | OMIM ID:603448 | UMLS ID:C3889636 | OMIM ID:615945 | SPINOCEREBELLAR ATAXIA 37 | spinocerebellar ataxia type 37 +BMGC_DS15408,BMG_DS058174,"intellectual disability, X-linked 100 | DOID:0112040 | OMIM ID:300923 | OMIM ID:300521 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 100 | MONDO:0010488 | non-syndromic X-linked intellectual disability 100 | UMLS ID:C3890167" +BMGC_DS15409,BMG_DS058175,"non-syndromic X-linked intellectual disability 101 | DOID:0112048 | intellectual disability, X-linked 101 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 101 | MONDO:0010489 | OMIM ID:300204 | UMLS ID:C3890168 | OMIM ID:300928" +BMGC_DS15410,BMG_DS058176,rheumatoid factor-negative juvenile idiopathic arthritis | UMLS ID:C3890205 | MONDO:0019432 +BMGC_DS15411,BMG_DS058178,MONDO:0014374 | OMIM ID:615862 | NEPHRONOPHTHISIS 18 | DOID:0111125 | UMLS ID:C3890591 | OMIM ID:615847 | nephronophthisis 18 +BMGC_DS15412,BMG_DS058180,MONDO:0019751 | UMLS ID:C3890737 | autoinflammatory syndrome +BMGC_DS15413,BMG_DS058182,OMIM ID:616806 | MONDO:0014779 | Wilms tumor 6 | UMLS ID:C3891301 +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 | DOID:0070009 | OMIM ID:601810 | OMIM ID:615807 | MONDO:0014350 +BMGC_DS15416,BMG_DS058185,UMLS ID:C3891556 | MONDO:0010491 | CHROMOSOME Xq26.3 DUPLICATION SYNDROME | OMIM ID:300942 | X-linked acrogigantism due to Xq26 microduplication +BMGC_DS15417,BMG_DS058187,"Arthritis, Suppurative | MeSH ID:D001170 | Arthritis, Infectious | UMLS ID:C3891815" +BMGC_DS15418,BMG_DS058188,OMIM ID:600733 | PANCREATIC AGENESIS 1 | UMLS ID:C3891828 | pancreatic agenesis 1 | OMIM ID:260370 | MONDO:0024547 | DOID:0061003 +BMGC_DS15419,BMG_DS058189,MONDO:0014434 | OMIM ID:603650 | BARDET-BIEDL SYNDROME 5 | UMLS ID:C3892039 | OMIM ID:615983 | Bardet-Biedl syndrome 5 +BMGC_DS15420,BMG_DS058190,"DEAFNESS, AUTOSOMAL DOMINANT 65 | UMLS ID:C3892048 | autosomal dominant nonsyndromic hearing loss 65 | OMIM ID:613577 | MONDO:0014470 | OMIM ID:616044" +BMGC_DS15421,BMG_DS058191,"DEAFNESS, AUTOSOMAL RECESSIVE 101 | autosomal recessive nonsyndromic hearing loss 101 | OMIM ID:615837 | MONDO:0014363 | UMLS ID:C3892049 | OMIM ID:615762" +BMGC_DS15422,BMG_DS058192,"MONDO:0014428 | UMLS ID:C3892050 | DEAFNESS, AUTOSOMAL RECESSIVE 102 | OMIM ID:600206 | OMIM ID:615974 | autosomal recessive nonsyndromic hearing loss 102" +BMGC_DS15423,BMG_DS058193,MONDO:0018604 | UMLS ID:C3896578 | familial colorectal cancer type X +BMGC_DS15424,BMG_DS058196,MONDO:0015557 | Smouldering systemic mastocytosis | UMLS ID:C3897042 +BMGC_DS15425,BMG_DS058205,OMIM ID:600558 | disabling pansclerotic morphea of childhood | DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD | MONDO:0957497 | UMLS ID:C3898649 | OMIM ID:620443 +BMGC_DS15426,BMG_DS058215,UMLS ID:C3899764 | MONDO:0956989 | CIC-rearranged sarcoma +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 1A | AMELOGENESIS IMPERFECTA, TYPE IA | OMIM ID:104530 | UMLS ID:C4011403 | OMIM ID:150310 | MONDO:0007094" +BMGC_DS15429,BMG_DS058221,cataract 42 | OMIM ID:115900 | OMIM ID:600836 | CATARACT 42 | MONDO:0007283 | UMLS ID:C4011454 +BMGC_DS15430,BMG_DS058222,"MONDO:0008049 | UMLS ID:C4011725 | OMIM ID:160300 | DOID:0070196 | myopathy, distal, infantile-onset | MYOPATHY, DISTAL, INFANTILE-ONSET | infantile-onset distal myopathy" +BMGC_DS15431,BMG_DS058223,"tubular aggregate myopathy 1 | MYOPATHY, TUBULAR AGGREGATE, 1 | MONDO:0024531 | OMIM ID:160565 | OMIM ID:605921 | myopathy, tubular aggregate, 1 | UMLS ID:C4011726 | DOID:0080089" +BMGC_DS15432,BMG_DS058224,Behavioural variant of frontotemporal dementia | Behavioral variant of frontotemporal dementia (disorder) | SNOMEDCT ID:716994006 | UMLS ID:C4011788 | Behavioral variant of frontotemporal dementia | MONDO:0017160 | behavioral variant of frontotemporal dementia +BMGC_DS15433,BMG_DS058225,DOID:0081287 | OMIM ID:123940 | WHITE SPONGE NEVUS 1 | OMIM ID:193900 | MONDO:0008676 | UMLS ID:C4011926 | white sponge nevus 1 +BMGC_DS15434,BMG_DS058227,UMLS ID:C4011949 | OMIM ID:209950 | OMIM ID:107470 | IMMUNODEFICIENCY 27A | MONDO:0008856 | immunodeficiency 27A +BMGC_DS15435,BMG_DS058228,"COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | OMIM ID:216820 | UMLS ID:C4011974 | MONDO:0009002 | OMIM ID:602219 | coloboma, ocular, autosomal recessive" +BMGC_DS15436,BMG_DS058230,Hennekam lymphangiectasia-lymphedema syndrome 1 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 | UMLS ID:C4012050 | OMIM ID:235510 | OMIM ID:612753 | MONDO:0009337 +BMGC_DS15437,BMG_DS058231,"MONDO:0800304 | OMIM ID:603415 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID | neuropathy, hereditary sensory and autonomic, type IId | OMIM ID:243000 | UMLS ID:C4012054" +BMGC_DS15438,BMG_DS058234,UMLS ID:C4012146 | DESBUQUOIS DYSPLASIA 1 | OMIM ID:251450 | MONDO:0009629 | OMIM ID:613165 | Desbuquois dysplasia 1 +BMGC_DS15439,BMG_DS058235,UMLS ID:C4012212 | Neonatal pulmonary hypertension | OMIM ID:MTHU045623 +BMGC_DS15440,BMG_DS058238,"MONDO:0060764 | OMIM ID:273395 | DOID:0112192 | tetraamelia syndrome 1 | UMLS ID:C4012268 | TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE" +BMGC_DS15441,BMG_DS058240,SNOMEDCT ID:733115009 | Congenital disorder of glycosylation type Iy | UMLS ID:C4012395 | Carbohydrate deficient glycoprotein syndrome type Iy | SSR4-congenital disorder of glycosylation | Congenital disorder of glycosylation type 1y (disorder) | OMIM ID:300934 | SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation | Congenital disorder of glycosylation type 1y | MONDO:0010490 | Signal sequence receptor subunit 4 congenital disorder of glycosylation +BMGC_DS15442,BMG_DS058243,"pituitary adenoma, growth hormone-secreting, 2 | UMLS ID:C4012409 | MONDO:0010492 | OMIM ID:300943" +BMGC_DS15443,BMG_DS058245,"ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE | UMLS ID:C4012597 | OMIM ID:601549 | MONDO:0011105 | alacrima, congenital, autosomal recessive" +BMGC_DS15444,BMG_DS058246,UMLS ID:C4012727 | MONDO:0011313 | OMIM ID:603387 | megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | OMIM ID:603157 +BMGC_DS15445,BMG_DS058247,UMLS ID:C4012790 | MONDO:0024557 | ataxia-telangiectasia-like disorder 1 | OMIM ID:604391 +BMGC_DS15446,BMG_DS058255,"MONDO:0012627 | UMLS ID:C4013473 | epilepsy, idiopathic generalized, susceptibility to, 13 | OMIM ID:611136" +BMGC_DS15447,BMG_DS058256,"UMLS ID:C4013560 | atrial fibrillation, familial, 17 | MONDO:0800345" +BMGC_DS15448,BMG_DS058258,OMIM ID:MTHU068873 | UMLS ID:C4013572 | Progressive pulmonary failure +BMGC_DS15449,BMG_DS058261,"bilateral parasagittal parieto-occipital polymicrogyria | UMLS ID:C4013648 | OMIM ID:612691 | POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL | DOID:0080923 | OMIM ID:609390 | MONDO:0012986" +BMGC_DS15450,BMG_DS058262,"atrial fibrillation, familial, 16 | UMLS ID:C4013699 | MONDO:0800349" +BMGC_DS15451,BMG_DS058263,UMLS ID:C4013764 | intellectual disability-severe speech delay-mild dysmorphism syndrome | OMIM ID:613670 | MONDO:0013352 +BMGC_DS15452,BMG_DS058265,OMIM ID:614889 | IMMUNODEFICIENCY 28 | OMIM ID:147569 | immunodeficiency 28 | DOID:0111995 | MONDO:0013953 | UMLS ID:C4013947 +BMGC_DS15453,BMG_DS058266,OMIM ID:161561 | DOID:0111950 | MONDO:0013954 | OMIM ID:614890 | immunodeficiency 29 | UMLS ID:C4013948 | IMMUNODEFICIENCY 29 | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency +BMGC_DS15454,BMG_DS058267,MONDO:0013955 | immunodeficiency 30 | OMIM ID:601604 | IMMUNODEFICIENCY 30 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | DOID:0111990 | UMLS ID:C4013949 | OMIM ID:614891 +BMGC_DS15455,BMG_DS058268,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | DOID:0111945 | IMMUNODEFICIENCY 31A | MONDO:0013956 | OMIM ID:600555 | immunodeficiency 31A | UMLS ID:C4013950 | OMIM ID:614892 +BMGC_DS15456,BMG_DS058274,MONDO:0014334 | immunodeficiency 22 | severe combined immunodeficiency due to LCK deficiency | UMLS ID:C4014233 | IMMUNODEFICIENCY 22 | OMIM ID:615758 | DOID:0111937 | OMIM ID:153390 +BMGC_DS15457,BMG_DS058275,"UMLS ID:C4014239 | MONDO:0014335 | diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | OMIM ID:615760 | OMIM ID:603727 | MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY" +BMGC_DS15458,BMG_DS058276,"MONDO:0014340 | atrial fibrillation, familial, 15 | UMLS ID:C4014269 | OMIM ID:615770 | ATRIAL FIBRILLATION, FAMILIAL, 15" +BMGC_DS15459,BMG_DS058277,"OMIM ID:615771 | OMIM ID:191130 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 | MONDO:0014341 | complex cortical dysplasia with other brain malformations 6 | UMLS ID:C4014283 | DOID:0090136" +BMGC_DS15460,BMG_DS058278,UMLS ID:C4014291 | female infertility due to zona pellucida defect | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1 | OMIM ID:195000 | OMIM ID:615774 | MONDO:0014342 +BMGC_DS15461,BMG_DS058279,UMLS ID:C4014294 | Desbuquois dysplasia 2 | DESBUQUOIS DYSPLASIA 2 | OMIM ID:615777 | OMIM ID:608124 | MONDO:0014343 +BMGC_DS15462,BMG_DS058280,"MONDO:0014344 | OMIM ID:107773 | congenital heart defects, multiple types, 4 | UMLS ID:C4014310 | OMIM ID:615779 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4" +BMGC_DS15463,BMG_DS058281,UMLS ID:C4014312 | MONDO:0014345 | OMIM ID:615757 | OMIM ID:615780 | retinitis pigmentosa 69 | RETINITIS PIGMENTOSA 69 +BMGC_DS15464,BMG_DS058283,white sponge nevus 2 | WHITE SPONGE NEVUS 2 | UMLS ID:C4014321 | OMIM ID:615785 | OMIM ID:148065 | MONDO:0014346 | DOID:0081288 +BMGC_DS15465,BMG_DS058284,"Rothmund-Thomson syndrome, type 3 | UMLS ID:C4014339 | OMIM ID:604594 | OMIM ID:615789 | MONDO:0014347 | ROTHMUND-THOMSON SYNDROME, TYPE 3" +BMGC_DS15466,BMG_DS058285,"MONDO:0014348 | UMLS ID:C4014343 | intellectual disability, autosomal recessive 42 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES | OMIM ID:615802 | OMIM ID:611655" +BMGC_DS15467,BMG_DS058286,"OMIM ID:615809 | pontocerebellar hypoplasia type 9 | UMLS ID:C4014354 | OMIM ID:102771 | MONDO:0014351 | PONTOCEREBELLAR HYPOPLASIA, TYPE 9" +BMGC_DS15468,BMG_DS058287,UMLS ID:C4014361 | ABDOMINAL OBESITY-METABOLIC SYNDROME 3 | DOID:0060612 | OMIM ID:615812 | OMIM ID:604556 | abdominal obesity-metabolic syndrome 3 | MONDO:0014352 +BMGC_DS15469,BMG_DS058288,DOID:0111953 | immunodeficiency 23 | OMIM ID:615816 | UMLS ID:C4014371 | OMIM ID:172100 | IMMUNODEFICIENCY 23 | OMIM ID:216920 | MONDO:0014353 +BMGC_DS15470,BMG_DS058289,"OMIM ID:615817 | MONDO:0014354 | UMLS ID:C4014386 | intellectual disability, autosomal recessive 43" +BMGC_DS15471,BMG_DS058290,"OMIM ID:615821 | OMIM ID:125647 | cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | UMLS ID:C4014393 | MONDO:0014355 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS" +BMGC_DS15472,BMG_DS058291,"OMIM ID:614461 | UMLS ID:C4014408 | MONDO:0014356 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 | OMIM ID:615824 | DOID:0080116 | mitochondrial complex III deficiency nuclear type 7" +BMGC_DS15473,BMG_DS058292,"OMIM ID:602635 | UMLS ID:C4014414 | MONDO:0014357 | intellectual disability, autosomal dominant 24 | VULTO-VAN SILFHOUT-DE VRIES SYNDROME | DOID:0070054 | Vulto-van Silfout-de Vries syndrome | OMIM ID:615828" +BMGC_DS15474,BMG_DS058293,"AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Xia Gibbs syndrome | OMIM ID:615829 | SNOMEDCT ID:774068004 | AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | UMLS ID:C4014419 | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | MONDO:0014358 | 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)" +BMGC_DS15475,BMG_DS058294,"MONDO:0014359 | DOID:0070549 | OMIM ID:615830 | pigmented nodular adrenocortical disease, primary, 4 | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 | UMLS ID:C4014425 | primary pigmented nodular adrenocortical disease 4" +BMGC_DS15476,BMG_DS058295,"developmental and epileptic encephalopathy 21 | MONDO:0014360 | developmental and epileptic encephalopathy, 21 | UMLS ID:C4014430 | DOID:0080443 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 | OMIM ID:615833 | OMIM ID:611623" +BMGC_DS15477,BMG_DS058296,UMLS ID:C4014435 | autism spectrum disorder due to AUTS2 deficiency | MONDO:0014361 | OMIM ID:615834 +BMGC_DS15478,BMG_DS058298,"MONDO:0014364 | UMLS ID:C4014440 | mitochondrial complex III deficiency nuclear type 8 | OMIM ID:615838 | DOID:0080117 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 | OMIM ID:615831" +BMGC_DS15479,BMG_DS058299,MONDO:0014365 | spermatogenic failure 13 | OMIM ID:601689 | SPERMATOGENIC FAILURE 13 | DOID:0070182 | UMLS ID:C4014449 | OMIM ID:615841 +BMGC_DS15480,BMG_DS058300,spermatogenic failure 14 | DOID:0070179 | MONDO:0014366 | OMIM ID:615842 | UMLS ID:C4014454 | SPERMATOGENIC FAILURE 14 | OMIM ID:614312 +BMGC_DS15481,BMG_DS058301,UMLS ID:C4014476 | tumor predisposition syndrome 3 | MONDO:0014368 | OMIM ID:616568 | OMIM ID:615848 +BMGC_DS15482,BMG_DS058302,UMLS ID:C4014479 | postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | MONDO:0014369 | OMIM ID:615849 +BMGC_DS15483,BMG_DS058303,"DOID:0060271 | UMLS ID:C4014488 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2E | MONDO:0014370 | OMIM ID:615850 | pontocerebellar hypoplasia type 2E | OMIM ID:615851" +BMGC_DS15484,BMG_DS058304,"DOID:0080415 | developmental and epileptic encephalopathy, 23 | MONDO:0014371 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 | OMIM ID:615859 | OMIM ID:615730 | UMLS ID:C4014492 | developmental and epileptic encephalopathy 23" +BMGC_DS15485,BMG_DS058305,DOID:0111025 | cone-rod dystrophy 19 | OMIM ID:612268 | MONDO:0014372 | OMIM ID:615860 | UMLS ID:C4014501 | CONE-ROD DYSTROPHY 19 +BMGC_DS15486,BMG_DS058306,"UMLS ID:C4014507 | nephrotic syndrome type 10 | nephrotic syndrome, type 10 | OMIM ID:615861 | DOID:0080386 | NEPHROTIC SYNDROME, TYPE 10 | OMIM ID:602334 | MONDO:0014373" +BMGC_DS15487,BMG_DS058307,"MONDO:0014375 | DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE | OMIM ID:615863 | UMLS ID:C4014516 | OMIM ID:604900 | congenital diarrhea 7 with exudative enteropathy" +BMGC_DS15488,BMG_DS058308,"Coffin-Siris syndrome 9 | MONDO:0014376 | DOID:0070057 | UMLS ID:C4014528 | COFFIN-SIRIS SYNDROME 9 | intellectual disability, autosomal dominant 27 | OMIM ID:615866" +BMGC_DS15489,BMG_DS058309,"OMIM ID:602780 | OMIM ID:615871 | DOID:0080429 | developmental and epileptic encephalopathy 24 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 | MONDO:0014377 | UMLS ID:C4014531 | developmental and epileptic encephalopathy, 24" +BMGC_DS15490,BMG_DS058310,MONDO:0014378 | UMLS ID:C4014534 | primary ciliary dyskinesia 29 | OMIM ID:615872 +BMGC_DS15491,BMG_DS058311,"Helsmoortel-van der Aa syndrome | UMLS ID:C4014538 | ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder | ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | OMIM ID:615873 | SNOMEDCT ID:766824003 | Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) | MONDO:0014379" +BMGC_DS15492,BMG_DS058312,MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME | UMLS ID:C4014540 | MONDO:0014380 | colobomatous microphthalmia-rhizomelic dysplasia syndrome | OMIM ID:615877 | OMIM ID:604357 | DOID:0111802 | syndromic microphthalmia 14 +BMGC_DS15493,BMG_DS058313,"Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | DNA methyltransferase 3 alpha overgrowth syndrome | UMLS ID:C4014545 | Tatton-Brown-Rahman overgrowth syndrome | Tall stature, intellectual disability, facial dysmorphism syndrome | Tatton Brown Rahman overgrowth syndrome | SNOMEDCT ID:768843007 | OMIM ID:615879 | DNMT3A-related overgrowth syndrome | Tatton Brown Rahman syndrome | MONDO:0014382" +BMGC_DS15494,BMG_DS058314,"tubular aggregate myopathy 2 | OMIM ID:610277 | MONDO:0014383 | MYOPATHY, TUBULAR AGGREGATE, 2 | myopathy, tubular aggregate, 2 | DOID:0080686 | OMIM ID:615883 | UMLS ID:C4014557" +BMGC_DS15495,BMG_DS058315,DOID:0110709 | UMLS ID:C4014563 | OMIM ID:603636 | HYPOTRICHOSIS 12 | hypotrichosis 12 | OMIM ID:615885 | MONDO:0014384 +BMGC_DS15496,BMG_DS058316,"MONDO:0014385 | OMIM ID:615887 | OMIM ID:609840 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 | UMLS ID:C4014578 | amelogenesis imperfecta hypomaturation type 2A5" +BMGC_DS15497,BMG_DS058317,"OMIM ID:615888 | platelet-type bleeding disorder 18 | BLEEDING DISORDER, PLATELET-TYPE, 18 | MONDO:0014386 | UMLS ID:C4014584 | OMIM ID:605577" +BMGC_DS15498,BMG_DS058318,"progressive leukoencephalopathy with ovarian failure | OMIM ID:615889 | leukoencephalopathy, progressive, with ovarian failure | DOID:0070396 | OMIM ID:612035 | UMLS ID:C4014588 | MONDO:0014387 | LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE" +BMGC_DS15499,BMG_DS058319,OMIM ID:615892 | UMLS ID:C4014596 | MONDO:0014388 | familial median cleft of the upper and lower lips +BMGC_DS15500,BMG_DS058320,POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY | UMLS ID:C4014605 | OMIM ID:615895 | OMIM ID:610924 | polyglucosan body myopathy 1 with or without immunodeficiency | MONDO:0014389 +BMGC_DS15501,BMG_DS058321,MONDO:0014390 | OMIM ID:615896 | HYPOTRICHOSIS 13 | OMIM ID:608245 | hypotrichosis 13 | UMLS ID:C4014616 | DOID:0110710 +BMGC_DS15502,BMG_DS058322,OMIM ID:615897 | OMIM ID:123860 | MONDO:0014391 | UMLS ID:C4014617 | immunodeficiency 24 | DOID:0111938 | severe combined immunodeficiency due to CTPS1 deficiency | IMMUNODEFICIENCY 24 +BMGC_DS15503,BMG_DS058323,"OMIM ID:615905 | UMLS ID:C4014621 | MONDO:0014392 | developmental and epileptic encephalopathy, 25" +BMGC_DS15504,BMG_DS058324,Diamond-Blackfan anemia 13 | DIAMOND-BLACKFAN ANEMIA 13 | MONDO:0014394 | UMLS ID:C4014641 | OMIM ID:615909 | OMIM ID:603633 | DOID:0111889 +BMGC_DS15505,BMG_DS058325,UMLS ID:C4014648 | frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | DOID:0060214 | MONDO:0014395 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 | OMIM ID:615903 | OMIM ID:615911 +BMGC_DS15506,BMG_DS058327,"UMLS ID:C4014656 | MONDO:0014396 | OMIM ID:615916 | OMIM ID:164760 | CARDIOMYOPATHY, DILATED, 1NN | dilated cardiomyopathy 1NN" +BMGC_DS15507,BMG_DS058328,UMLS ID:C4014660 | MONDO:0014397 | combined oxidative phosphorylation deficiency 20 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 | OMIM ID:612802 | DOID:0111478 | combined oxidative phosphorylation defect type 20 | OMIM ID:615917 +BMGC_DS15508,BMG_DS058329,OMIM ID:176740 | UMLS ID:C4014676 | ataxia-telangiectasia-like disorder 2 | DOID:0081385 | MONDO:0014399 | ataxia-telangiectasia-like disorder-2 | OMIM ID:615919 | ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 +BMGC_DS15509,BMG_DS058330,RETINITIS PIGMENTOSA 70 | OMIM ID:615922 | UMLS ID:C4014681 | retinitis pigmentosa 70 | OMIM ID:607795 | MONDO:0014400 +BMGC_DS15510,BMG_DS058331,"MONDO:0014401 | UMLS ID:C4014690 | tall stature-scoliosis-macrodactyly of the great toes syndrome | EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE | DOID:0070316 | OMIM ID:108961 | Miura type epiphyseal chondrodysplasia | OMIM ID:615923" +BMGC_DS15511,BMG_DS058332,"MONDO:0014402 | severe neurodegenerative syndrome with lipodystrophy | ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY | OMIM ID:606158 | OMIM ID:615924 | UMLS ID:C4014700" +BMGC_DS15512,BMG_DS058333,OMIM ID:606036 | WEBB-DATTANI SYNDROME | Webb-Dattani syndrome | UMLS ID:C4014708 | MONDO:0014404 | OMIM ID:615926 +BMGC_DS15513,BMG_DS058334,"MONDO:0014405 | STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET | OMIM ID:615934 | UMLS ID:C4014722 | DOID:0111457 | OMIM ID:612374 | STING-associated vasculopathy with onset in infancy" +BMGC_DS15514,BMG_DS058335,DOID:0060988 | MONDO:0014406 | OMIM ID:615935 | pancreatic agenesis 2 | PANCREATIC AGENESIS 2 | UMLS ID:C4014737 +BMGC_DS15515,BMG_DS058336,OMIM ID:611223 | megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | MONDO:0014407 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 | UMLS ID:C4014738 | OMIM ID:615937 +BMGC_DS15516,BMG_DS058338,OMIM ID:615938 | UMLS ID:C4014742 | MONDO:0014408 | OMIM ID:123833 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 | megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 +BMGC_DS15517,BMG_DS058339,"intellectual disability, autosomal recessive 44 | MONDO:0014409 | OMIM ID:615942 | UMLS ID:C4014745" +BMGC_DS15518,BMG_DS058340,"MONDO:0014411 | MYOPIA 24, AUTOSOMAL DOMINANT | OMIM ID:608730 | UMLS ID:C4014762 | myopia 24, autosomal dominant | OMIM ID:615946" +BMGC_DS15519,BMG_DS058341,"UMLS ID:C4014767 | familial GPIHBP1 deficiency | OMIM ID:615947 | MONDO:0014412 | HYPERLIPOPROTEINEMIA, TYPE ID | hyperlipoproteinemia, type 1D | OMIM ID:612757 | DOID:0111420" +BMGC_DS15520,BMG_DS058342,"STAT3-related early-onset multisystem autoimmune disease | MONDO:0014414 | OMIM ID:615952 | UMLS ID:C4014795 | OMIM ID:102582 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1" +BMGC_DS15521,BMG_DS058343,ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 | MONDO:0014416 | OMIM ID:615549 | UMLS ID:C4014803 | ACTH-independent macronodular adrenal hyperplasia 2 | DOID:0111624 | OMIM ID:615954 +BMGC_DS15522,BMG_DS058344,"UMLS ID:C4014814 | MYOPATHY, CENTRONUCLEAR, 5 | OMIM ID:615959 | centronuclear myopathy 5 | myopathy, centronuclear, 5 | DOID:0111222 | MONDO:0014418" +BMGC_DS15523,BMG_DS058345,"MONDO:0014419 | UMLS ID:C4014821 | OMIM ID:615960 | SNOMEDCT ID:763344007 | Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome | Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder) | ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | Poretti Boltshauser syndrome" +BMGC_DS15524,BMG_DS058346,UMLS ID:C4014831 | MONDO:0014422 | OMIM ID:615963 | OMIM ID:600985 | VESICOURETERAL REFLUX 8 | vesicoureteral reflux 8 +BMGC_DS15525,BMG_DS058347,DOID:0111961 | severe combined immunodeficiency due to DNA-PKcs deficiency | UMLS ID:C4014833 | immunodeficiency 26 | OMIM ID:615966 | MONDO:0014423 | IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES +BMGC_DS15526,BMG_DS058348,OMIM ID:615949 | OMIM ID:615972 | UMLS ID:C4014848 | nanophthalmos 4 | MONDO:0014426 | NANOPHTHALMOS 4 +BMGC_DS15527,BMG_DS058349,OMIM ID:614784 | MONDO:0014427 | UMLS ID:C4014856 | CONE-ROD DYSTROPHY 20 | cone-rod dystrophy 20 | DOID:0111026 | OMIM ID:615973 +BMGC_DS15528,BMG_DS058350,UMLS ID:C4014863 | immunodeficiency 27B | OMIM ID:107470 | DOID:0111956 | autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | OMIM ID:615978 | MONDO:0014429 | IMMUNODEFICIENCY 27B +BMGC_DS15529,BMG_DS058351,"OMIM ID:615979 | intellectual disability, autosomal recessive 45 | UMLS ID:C4014864 | MONDO:0014430" +BMGC_DS15530,BMG_DS058352,"SNOMEDCT ID:1197751007 | LIPE-related familial partial lipodystrophy | MONDO:0014431 | OMIM ID:615980 | Lipase E, hormone sensitive type-related familial partial lipodystrophy (disorder) | UMLS ID:C4014869 | FPLD6 - familial partial lipodystrophy type 6 | Lipase E, hormone sensitive type-related familial partial lipodystrophy" +BMGC_DS15531,BMG_DS058354,"MONDO:0014450 | breasts and/or nipples, aplasia or hypoplasia of, 2 | UMLS ID:C4014918 | OMIM ID:616001" +BMGC_DS15532,BMG_DS058355,OMIM ID:616002 | OMIM ID:167409 | MONDO:0014451 | UMLS ID:C4014925 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 | focal segmental glomerulosclerosis 7 +BMGC_DS15533,BMG_DS058356,immunodeficiency 36 | MONDO:0014453 | DOID:0111949 | UMLS ID:C4014934 | OMIM ID:616005 +BMGC_DS15534,BMG_DS058358,UMLS ID:C4014939 | MONDO:0014454 | OMIM ID:612411 | OMIM ID:616006 | Hennekam lymphangiectasia-lymphedema syndrome 2 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 +BMGC_DS15535,BMG_DS058359,"Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) | CAGSSS - cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome | UMLS ID:C4014942 | cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome | OMIM ID:616007 | MONDO:0014455 | SNOMEDCT ID:1220595008" +BMGC_DS15536,BMG_DS058360,OMIM ID:616022 | autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | UMLS ID:C4014954 | MONDO:0014456 +BMGC_DS15537,BMG_DS058361,MONDO:0014457 | hyperphosphatasia with intellectual disability syndrome 5 | hyperphosphatasia with impaired intellectual development syndrome 5 | DOID:0070432 | OMIM ID:610275 | OMIM ID:616025 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 | UMLS ID:C4014958 +BMGC_DS15538,BMG_DS058362,UMLS ID:C4014962 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | MONDO:0014458 | OMIM ID:616026 | Fanconi renotubular syndrome 4 | FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG | DOID:0080760 +BMGC_DS15539,BMG_DS058363,OMIM ID:616028 | ADAMS-OLIVER SYNDROME 5 | OMIM ID:190198 | Adams-Oliver syndrome 5 | UMLS ID:C4014970 | MONDO:0014459 +BMGC_DS15540,BMG_DS058365,"MONDO:0014460 | nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | Ectodermal dysplasia short stature syndrome | Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder) | OMIM ID:616029 | Short stature, nail dysplasia, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | UMLS ID:C4014987 | SNOMEDCT ID:764995008 | Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome" +BMGC_DS15541,BMG_DS058366,hypogonadotropic hypogonadism 22 with or without anosmia | OMIM ID:616030 | HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA | UMLS ID:C4014988 | MONDO:0014461 +BMGC_DS15542,BMG_DS058367,OMIM ID:616032 | OMIM ID:616027 | UMLS ID:C4014993 | focal segmental glomerulosclerosis 8 | MONDO:0014462 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 +BMGC_DS15543,BMG_DS058368,"microcephaly, short stature, and impaired glucose metabolism 1 | MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 | UMLS ID:C4014997 | OMIM ID:616013 | OMIM ID:616033 | MONDO:0000208" +BMGC_DS15544,BMG_DS058371,"OMIM ID:616037 | primary ciliary dyskinesia 30 | CILIARY DYSKINESIA, PRIMARY, 30 | UMLS ID:C4015016 | OMIM ID:615956 | MONDO:0014465" +BMGC_DS15545,BMG_DS058372,OMIM ID:610936 | Neu-Laxova syndrome 2 | MONDO:0014466 | OMIM ID:616038 | UMLS ID:C4015019 | NEU-LAXOVA SYNDROME 2 | DOID:0080075 +BMGC_DS15546,BMG_DS058373,"OMIM ID:616040 | congenital myasthenic syndrome 7 | MYASTHENIC SYNDROME, CONGENITAL, 7A, PRESYNAPTIC, AND DISTAL MOTOR NEUROPATHY, AUTOSOMAL DOMINANT | UMLS ID:C4015038 | MONDO:0014468 | OMIM ID:600104 | DOID:0110659" +BMGC_DS15547,BMG_DS058374,"UMLS ID:C4015050 | autosomal recessive nonsyndromic hearing loss 103 | OMIM ID:616042 | MONDO:0014469 | OMIM ID:607293 | DEAFNESS, AUTOSOMAL RECESSIVE 103" +BMGC_DS15548,BMG_DS058376,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 | OMIM ID:616045 | combined oxidative phosphorylation deficiency 22 | DOID:0111498 | OMIM ID:164360 | UMLS ID:C4015062 | MONDO:0020727 +BMGC_DS15549,BMG_DS058377,UMLS ID:C4015067 | OMIM ID:616050 | MONDO:0014472 | periodic fever-infantile enterocolitis-autoinflammatory syndrome +BMGC_DS15550,BMG_DS058378,"OMIM ID:117143 | MONDO:0014473 | MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE | UMLS ID:C4015080 | microcephaly 13, primary, autosomal recessive | DOID:0070283 | OMIM ID:616051 | primary autosomal recessive microcephaly 13" +BMGC_DS15551,BMG_DS058382,SNOMEDCT ID:773495009 | Episodic ataxia with slurred speech | MONDO:0014476 | Episodic ataxia type 8 | OMIM ID:616055 | UMLS ID:C4015108 | episodic ataxia type 8 | Episodic ataxia with slurred speech (disorder) +BMGC_DS15552,BMG_DS058383,"OMIM ID:616056 | MONDO:0014477 | UMLS ID:C4015119 | developmental and epileptic encephalopathy, 26" +BMGC_DS15553,BMG_DS058384,MONDO:0014478 | OMIM ID:616059 | MIRROR MOVEMENTS 3 | mirror movements 3 | OMIM ID:610565 | UMLS ID:C4015124 +BMGC_DS15554,BMG_DS058385,"UMLS ID:C4015128 | OMIM ID:612107 | MONDO:0014479 | OMIM ID:616063 | POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE | porokeratosis 8, disseminated superficial actinic type" +BMGC_DS15555,BMG_DS058386,"UMLS ID:C4015129 | OMIM ID:603693 | 46,XY SEX REVERSAL 9 | OMIM ID:616067 | MONDO:0014480 | 46,XY sex reversal 9 | DOID:0111770" +BMGC_DS15556,BMG_DS058387,"UMLS ID:C4015130 | inflammatory skin and bowel disease, neonatal, 2 | OMIM ID:616069 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 | OMIM ID:131550 | MONDO:0014481" +BMGC_DS15557,BMG_DS058388,"OMIM ID:616078 | intellectual disability, autosomal dominant 29 | MONDO:0014482 | UMLS ID:C4015141" +BMGC_DS15558,BMG_DS058389,MONDO:0014483 | retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | OMIM ID:616079 | UMLS ID:C4015146 +BMGC_DS15559,BMG_DS058390,"microcephaly 12, primary, autosomal recessive | OMIM ID:616080 | primary autosomal recessive microcephaly 12 | DOID:0070284 | MONDO:0014484 | UMLS ID:C4015156 | OMIM ID:603368 | MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE" +BMGC_DS15560,BMG_DS058391,"OMIM ID:616081 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1C | MONDO:0014485 | pontocerebellar hypoplasia type 1C | UMLS ID:C4015160 | OMIM ID:606019 | pontocerebellar hypoplasia, type 1C | DOID:0112334" +BMGC_DS15561,BMG_DS058392,"DOID:0070060 | autosomal dominant intellectual developmental disorder 30 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | OMIM ID:616083 | MONDO:0014486 | UMLS ID:C4015167 | OMIM ID:608668 | intellectual disability, autosomal dominant 30" +BMGC_DS15562,BMG_DS058393,"OMIM ID:616084 | MONDO:0014487 | congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY | UMLS ID:C4015172 | OMIM ID:612907 | DOID:0080209 | sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" +BMGC_DS15563,BMG_DS058394,"OMIM ID:616087 | TYPE 2 DIABETES 5 | UMLS ID:C4015183 | MONDO:0014488 | diabetes mellitus, noninsulin-dependent, 5" +BMGC_DS15564,BMG_DS058395,OMIM ID:616094 | Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency | MONDO:0014489 | limb-girdle muscular dystrophy due to POMK deficiency | Limb girdle muscular dystrophy due to POMK deficiency | SNOMEDCT ID:1234819007 | UMLS ID:C4015184 | Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder) +BMGC_DS15565,BMG_DS058396,MONDO:0014490 | UMLS ID:C4015186 | Ketoacidosis due to monocarboxylate transporter-1 deficiency | OMIM ID:616095 | Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) | SNOMEDCT ID:1216941002 | ketoacidosis due to monocarboxylate transporter-1 deficiency +BMGC_DS15566,BMG_DS058397,UMLS ID:C4015195 | OMIM ID:603517 | MONDO:0014491 | DOID:0111939 | IMMUNODEFICIENCY 37 | immunodeficiency 37 | OMIM ID:616098 +BMGC_DS15567,BMG_DS058398,PALMOPLANTAR KERATODERMA AND WOOLLY HAIR | OMIM ID:616099 | DOID:0070554 | MONDO:0014492 | wooly hair-palmoplantar keratoderma syndrome | OMIM ID:614610 | palmoplantar keratoderma and woolly hair | UMLS ID:C4015202 +BMGC_DS15568,BMG_DS058399,UMLS ID:C4015214 | autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | OMIM ID:616100 | MONDO:0014493 +BMGC_DS15569,BMG_DS058401,"MONDO:0014494 | OMIM ID:616106 | psoriasis 15, pustular, susceptibility to | UMLS ID:C4015235" +BMGC_DS15570,BMG_DS058402,"Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (disorder) | OMIM ID:616108 | retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome | Retinal dystrophy, juvenile cataract, short stature syndrome | UMLS ID:C4015242 | MONDO:0014495 | SNOMEDCT ID:1220597000" +BMGC_DS15571,BMG_DS058403,"OMIM ID:616111 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 | OMIM ID:616097 | UMLS ID:C4015253 | DOID:0080118 | MONDO:0014496 | mitochondrial complex III deficiency nuclear type 9" +BMGC_DS15572,BMG_DS058404,MONDO:0014497 | polyendocrine-polyneuropathy syndrome | OMIM ID:616113 | SNOMEDCT ID:1260449002 | PEPNS - polyendocrine polyneuropathy syndrome | Polyendocrine polyneuropathy syndrome | UMLS ID:C4015261 | Polyendocrine polyneuropathy syndrome (disorder) +BMGC_DS15573,BMG_DS058405,FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 | MONDO:0014498 | OMIM ID:606831 | familial cold autoinflammatory syndrome 4 | UMLS ID:C4015276 | OMIM ID:616115 +BMGC_DS15574,BMG_DS058406,"OMIM ID:616116 | MONDO:0014499 | intellectual disability, autosomal recessive 46 | UMLS ID:C4015283" +BMGC_DS15575,BMG_DS058407,CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY | OMIM ID:616117 | MONDO:0014500 | UMLS ID:C4015285 | atrial conduction disease | OMIM ID:613932 +BMGC_DS15576,BMG_DS058408,"UMLS ID:C4015286 | OMIM ID:616118 | macular degeneration, early-onset | MACULAR DEGENERATION, EARLY-ONSET | OMIM ID:612570 | MONDO:0014501" +BMGC_DS15577,BMG_DS058409,immunodeficiency 38 | OMIM ID:616126 | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | MONDO:0014502 | OMIM ID:147571 | IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION | DOID:0111934 | UMLS ID:C4015293 +BMGC_DS15578,BMG_DS058411,MONDO:0014503 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | SCAR17 - spinocerebellar ataxia autosomal recessive type 17 | SNOMEDCT ID:1237625002 | UMLS ID:C4015301 | Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency | autosomal recessive spinocerebellar ataxia 17 | OMIM ID:616127 +BMGC_DS15579,BMG_DS058412,OMIM ID:606075 | OMIM ID:616138 | UMLS ID:C4015307 | PERRAULT SYNDROME 5 | Perrault syndrome 5 | MONDO:0014504 +BMGC_DS15580,BMG_DS058413,"OMIM ID:616139 | UMLS ID:C4015316 | developmental and epileptic encephalopathy, 27 | DOID:0080444 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 | MONDO:0014505 | developmental and epileptic encephalopathy 27" +BMGC_DS15581,BMG_DS058414,RARS-related autosomal recessive hypomyelinating leukodystrophy | UMLS ID:C4015323 | MONDO:0014506 | Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) | Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leucodystrophy | hypomyelinating leukodystrophy 9 | RARS-related autosomal recessive hypomyelinating leucodystrophy | SNOMEDCT ID:1220600004 | Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy | OMIM ID:616140 +BMGC_DS15582,BMG_DS058416,"vitelliform macular dystrophy 4 | MACULAR DYSTROPHY, VITELLIFORM, 4 | OMIM ID:616151 | OMIM ID:602870 | UMLS ID:C4015342 | MONDO:0014508" +BMGC_DS15583,BMG_DS058417,"MONDO:0014509 | OMIM ID:616152 | vitelliform macular dystrophy 5 | UMLS ID:C4015343 | OMIM ID:607056 | MACULAR DYSTROPHY, VITELLIFORM, 5" +BMGC_DS15584,BMG_DS058418,Fatty acyl-CoA reductase 1 deficiency | fatty acyl-CoA reductase 1 deficiency | OMIM ID:616154 | FAR1 deficiency | MONDO:0014510 | SNOMEDCT ID:1237619001 | PFCRD - peroxisomal fatty acyl-CoA reductase 1 disorder | UMLS ID:C4015344 | Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | Fatty acyl-coenzyme A reductase 1 deficiency +BMGC_DS15585,BMG_DS058419,"MONDO:0014511 | DOID:0110171 | UMLS ID:C4015349 | OMIM ID:616155 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S | OMIM ID:600502 | Charcot-Marie-Tooth disease axonal type 2S" +BMGC_DS15586,BMG_DS058420,"NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | autosomal dominant intellectual developmental disorder 31 | UMLS ID:C4015357 | DOID:0070061 | OMIM ID:616158 | OMIM ID:600473" +BMGC_DS15587,BMG_DS058421,UMLS ID:C4015360 | DOID:0110931 | nemaline myopathy 10 | OMIM ID:616165 | NEMALINE MYOPATHY 10 | MONDO:0014513 | OMIM ID:616112 +BMGC_DS15588,BMG_DS058422,"UMLS ID:C4015368 | OMIM ID:601103 | AORTIC ANEURYSM, FAMILIAL THORACIC 9 | aortic aneurysm, familial thoracic 9 | OMIM ID:616166 | MONDO:0014514" +BMGC_DS15589,BMG_DS058423,MONDO:0014515 | OMIM ID:611124 | OMIM ID:616170 | MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT | UMLS ID:C4015371 | macular dystrophy with central cone involvement +BMGC_DS15590,BMG_DS058424,"MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | OMIM ID:616171 | DOID:0080106 | MONDO:0014516 | OMIM ID:605031 | microcephaly and chorioretinopathy 2 | UMLS ID:C4015388" +BMGC_DS15591,BMG_DS058425,"MONDO:0014517 | generalized epilepsy with febrile seizures plus, type 9 | OMIM ID:616172 | UMLS ID:C4015395 | OMIM ID:601485 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 | DOID:0111301 | generalized epilepsy with febrile seizures plus 9" +BMGC_DS15592,BMG_DS058426,"OMIM ID:616176 | UMLS ID:C4015405 | OMIM ID:176893 | MONDO:0014518 | platelet-type bleeding disorder 19 | BLEEDING DISORDER, PLATELET-TYPE, 19" +BMGC_DS15593,BMG_DS058427,"DOID:0080496 | MONDO:0014520 | UMLS ID:C4015409 | OMIM ID:610098 | 46,XX ovarian dysgenesis-short stature syndrome | ovarian dysgenesis 4 | OMIM ID:616185 | OVARIAN DYSGENESIS 4" +BMGC_DS15594,BMG_DS058428,progressive myoclonic epilepsy type 7 | MONDO:0014521 | progressive myoclonus epilepsy 7 | OMIM ID:616187 | Progressive myoclonic epilepsy type 7 | UMLS ID:C4015420 | DOID:0111447 | SNOMEDCT ID:1208939001 | EPM7 - epilepsy progressive myoclonic 7 | Progressive myoclonic epilepsy due to KV3.1 deficiency | Progressive myoclonic epilepsy type 7 (disorder) | Progressive myoclonus epilepsy type 7 +BMGC_DS15595,BMG_DS058429,MONDO:0014522 | UMLS ID:C4015424 | OMIM ID:601197 | OMIM ID:616188 | RETINAL DYSTROPHY AND OBESITY | retinal dystrophy and obesity +BMGC_DS15596,BMG_DS058430,"Combined cerebellar and peripheral ataxia, deafness, diabetes mellitus syndrome | UMLS ID:C4015436 | SNOMEDCT ID:1255271005 | MONDO:0014523 | Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome | juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | OMIM ID:616192 | Combined cerebellar and peripheral ataxia, hearing loss, diabetes mellitus syndrome" +BMGC_DS15597,BMG_DS058432,"intellectual disability, autosomal recessive 47 | OMIM ID:606373 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 47 | OMIM ID:616193 | DOID:0081211 | UMLS ID:C4015444 | autosomal recessive intellectual developmental disorder 47 | MONDO:0014524" +BMGC_DS15598,BMG_DS058433,Polyglucosan body myopathy type 2 (disorder) | UMLS ID:C4015452 | MONDO:0014526 | polyglucosan body myopathy type 2 | PGBM2 - polyglucosan body myopathy type 2 | Polyglucosan body myopathy type 2 | SNOMEDCT ID:1228849007 | OMIM ID:616199 +BMGC_DS15599,BMG_DS058434,"Progeroid features, hepatocellular carcinoma predisposition syndrome | UMLS ID:C4015461 | progeroid features-hepatocellular carcinoma predisposition syndrome | OMIM ID:616200 | SNOMEDCT ID:1216939003 | MONDO:0014527 | Progeroid features, hepatocellular carcinoma predisposition syndrome (disorder) | Ruijs Aalfs syndrome" +BMGC_DS15600,BMG_DS058435,Chronic atrial and intestinal dysrhythmia | chronic atrial and intestinal dysrhythmia | CAID (chronic atrial and intestinal dysrhythmia) syndrome | OMIM ID:616201 | UMLS ID:C4015474 | SNOMEDCT ID:720507006 | Chronic atrial and intestinal dysrhythmia (disorder) | MONDO:0014528 +BMGC_DS15601,BMG_DS058437,MONDO:0014529 | UMLS ID:C4015495 | DOID:0080898 | OMIM ID:616202 | OMIM ID:604902 | CEREBELLOFACIODENTAL SYNDROME | cerebellofaciodental syndrome | cerebellar-facial-dental syndrome +BMGC_DS15602,BMG_DS058438,"DOID:0080042 | OMIM ID:616204 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 | UMLS ID:C4015505 | autosomal recessive spinocerebellar ataxia 18 | OMIM ID:602368 | MONDO:0014530" +BMGC_DS15603,BMG_DS058439,UMLS ID:C4015512 | DOID:0060355 | MONDO:0014531 | amyotrophic lateral sclerosis type 22 | OMIM ID:616208 | AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA +BMGC_DS15604,BMG_DS058440,UMLS ID:C4015513 | MONDO:0014532 | SNOMEDCT ID:1222644009 | OMIM ID:616209 | Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder) | autosomal dominant mitochondrial myopathy with exercise intolerance | Autosomal dominant mitochondrial myopathy with exercise intolerance +BMGC_DS15605,BMG_DS058441,"MONDO:0014533 | OMIM ID:616211 | DOID:0080452 | developmental and epileptic encephalopathy 28 | UMLS ID:C4015519 | developmental and epileptic encephalopathy, 28 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28" +BMGC_DS15606,BMG_DS058442,UMLS ID:C4015525 | OMIM ID:616212 | MONDO:0014534 | lissencephaly 6 with microcephaly +BMGC_DS15607,BMG_DS058443,THROMBOCYTOPENIA 5 | thrombocytopenia 5 | UMLS ID:C4015537 | OMIM ID:600618 | OMIM ID:616216 | MONDO:0014536 +BMGC_DS15608,BMG_DS058444,DOID:0111126 | OMIM ID:605755 | nephronophthisis 19 | MONDO:0014537 | UMLS ID:C4015542 | NEPHRONOPHTHISIS 19 | OMIM ID:616217 +BMGC_DS15609,BMG_DS058445,"OMIM ID:610004 | congenital fibrosis of the extraocular muscles 5 | DOID:0081020 | MONDO:0014538 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 | OMIM ID:616219 | fibrosis of extraocular muscles, congenital, 5 | UMLS ID:C4015552" +BMGC_DS15610,BMG_DS058446,MONDO:0014539 | OMIM ID:609720 | OMIM ID:616220 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 | UMLS ID:C4015555 | focal segmental glomerulosclerosis 9 +BMGC_DS15611,BMG_DS058447,"MONDO:0014540 | AMELOGENESIS IMPERFECTA, TYPE IH | OMIM ID:616221 | UMLS ID:C4015557 | OMIM ID:147558 | amelogenesis imperfecta type 1H" +BMGC_DS15612,BMG_DS058448,SNOMEDCT ID:778012003 | DOID:0111713 | motor developmental delay due to 14q32.2 paternally expressed gene defect | Temple syndrome (disorder) | Temple syndrome | MONDO:0014541 | UMLS ID:C4015558 | MeSH ID:C000726750 | OMIM ID:616222 +BMGC_DS15613,BMG_DS058449,"DOID:0110658 | OMIM ID:612866 | OMIM ID:616227 | congenital myasthenic syndrome 15 | UMLS ID:C4015596 | MYASTHENIC SYNDROME, CONGENITAL, 15 | MONDO:0014542" +BMGC_DS15614,BMG_DS058450,"OMIM ID:616228 | UMLS ID:C4015597 | MYASTHENIC SYNDROME, CONGENITAL, 14 | DOID:0110669 | congenital myasthenic syndrome 14 | OMIM ID:607905 | MONDO:0014543" +BMGC_DS15615,BMG_DS058451,"MONDO:0014544 | UMLS ID:C4015610 | OMIM ID:616215 | OMIM ID:616229 | OSTEOGENESIS IMPERFECTA, TYPE XVI | osteogenesis imperfecta type 16" +BMGC_DS15616,BMG_DS058452,"myopathy due to calsequestrin and SERCA1 protein overload | UMLS ID:C4015624 | OMIM ID:114250 | MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES | MONDO:0014546 | OMIM ID:616231" +BMGC_DS15617,BMG_DS058453,"MONDO:0014866 | OMIM ID:120520 | UMLS ID:C4015635 | OMIM ID:617017 | OMIM ID:616233 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T | Charcot-Marie-Tooth disease axonal type 2T" +BMGC_DS15618,BMG_DS058454,COXPD24 - combined oxidative phosphorylation defect type 24 | Combined oxidative phosphorylation defect type 24 | combined oxidative phosphorylation defect type 24 | OMIM ID:616239 | SNOMEDCT ID:1222680009 | Combined oxidative phosphorylation defect type 24 (disorder) | MONDO:0014547 | UMLS ID:C4015643 +BMGC_DS15619,BMG_DS058455,LONG QT SYNDROME 14 | long QT syndrome 14 | UMLS ID:C4015671 | OMIM ID:616247 | OMIM ID:114180 | MONDO:0014548 +BMGC_DS15620,BMG_DS058456,lethal congenital contracture syndrome 6 | OMIM ID:613915 | UMLS ID:C4015686 | MONDO:0014549 | OMIM ID:616248 | LETHAL CONGENITAL CONTRACTURE SYNDROME 6 +BMGC_DS15621,BMG_DS058457,long QT syndrome 15 | UMLS ID:C4015695 | LONG QT SYNDROME 15 | OMIM ID:114182 | MONDO:0014550 | OMIM ID:616249 +BMGC_DS15622,BMG_DS058458,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | SNOMEDCT ID:1237342004 | MONDO:0014552 | lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | UMLS ID:C4015701 | Lethal foetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome | Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome (disorder) | OMIM ID:616258 +BMGC_DS15623,BMG_DS058459,OMIM ID:616260 | TENORIO SYNDROME | Tenorio syndrome | UMLS ID:C4015710 | OMIM ID:610432 | MONDO:0014553 +BMGC_DS15624,BMG_DS058460,"OMIM ID:608625 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 1 | MONDO:8000012 | OMIM ID:616263 | UMLS ID:C4015728 | neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1" +BMGC_DS15625,BMG_DS058461,peeling skin syndrome type A | peeling skin syndrome 3 | UMLS ID:C4015729 | OMIM ID:616265 | MONDO:0014555 | DOID:0070522 | PEELING SKIN SYNDROME 3 +BMGC_DS15626,BMG_DS058464,"UMLS ID:C4015953 | OSTEOGENESIS IMPERFECTA, MILD | OMIM ID:120160" +BMGC_DS15627,BMG_DS058466,UMLS ID:C4016054 | neonatal Marfan syndrome | MONDO:0017309 | Neonatal Marfan syndrome | SNOMEDCT ID:763839005 | Neonatal Marfan syndrome (disorder) +BMGC_DS15628,BMG_DS058469,"OMIM ID:141850 | UMLS ID:C4016158 | ALPHA-THALASSEMIA, HMONG TYPE" +BMGC_DS15629,BMG_DS058470,"OMIM ID:619555 | OMIM ID:148040 | UMLS ID:C4016235 | EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE" +BMGC_DS15630,BMG_DS058472,"MONDO:0100046 | UMLS ID:C4016255 | exfoliation syndrome, susceptibility to | OMIM ID:177650" +BMGC_DS15631,BMG_DS058474,SNOMEDCT ID:783143001 | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | UMLS ID:C4016301 | CBL (Cbl proto-oncogene) syndrome | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (disorder) +BMGC_DS15632,BMG_DS058475,SNOMEDCT ID:1201862006 | Autosomal recessive central core myopathy | Autosomal recessive central core disease (disorder) | UMLS ID:C4016368 | Autosomal recessive central core disease +BMGC_DS15633,BMG_DS058476,"UMLS ID:C4016380 | OMIM ID:617948 | ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | OMIM ID:182870" +BMGC_DS15634,BMG_DS058479,"UMLS ID:C4016429 | OMIM ID:267300 | RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS | OMIM ID:192132" +BMGC_DS15635,BMG_DS058481,myelodysplastic syndrome with ring sideroblasts | UMLS ID:C4016601 | MONDO:0019157 +BMGC_DS15636,BMG_DS058484,OMIM ID:614894 | UMLS ID:C4016741 | immunodeficiency 32B | OMIM ID:226990 | MONDO:0009194 | DOID:0111985 | IMMUNODEFICIENCY 32B | OMIM ID:601565 +BMGC_DS15637,BMG_DS058485,MONDO:0100156 | UMLS ID:C4016819 | Imerslund-Grasbeck syndrome type 1 | OMIM ID:261100 +BMGC_DS15638,BMG_DS058487,OMIM ID:618882 | MONDO:0100157 | Imerslund-Grasbeck syndrome type 2 | IMERSLUND-GRASBECK SYNDROME 2 | UMLS ID:C4016948 | OMIM ID:605799 +BMGC_DS15639,BMG_DS058488,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 | OMIM ID:606596 | UMLS ID:C4016970" +BMGC_DS15640,BMG_DS058491,"UMLS ID:C4017048 | OMIM ID:606953 | GALACTOSEMIA III, SEVERE" +BMGC_DS15641,BMG_DS058492,UMLS ID:C4017127 | mild Canavan disease | MONDO:0017831 +BMGC_DS15642,BMG_DS058493,"MONDO:0014619 | TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE | OMIM ID:616395 | trichothiodystrophy 3, photosensitive | UMLS ID:C4017171 | DOID:0111871 | OMIM ID:608780 | photosensitive trichothiodystrophy 3" +BMGC_DS15643,BMG_DS058495,"UMLS ID:C4017190 | MONDO:0800380 | 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial" +BMGC_DS15644,BMG_DS058498,"spondyloepimetaphyseal dysplasia with joint laxity type 1 | UMLS ID:C4017377 | DOID:0112198 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES | spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | OMIM ID:271640 | MONDO:0010075" +BMGC_DS15645,BMG_DS058501,UMLS ID:C4017465 | HEINZ BODY HEMOLYTIC ANEMIA | OMIM ID:141800 | OMIM ID:141900 +BMGC_DS15646,BMG_DS058502,"OMIM ID:607154 | UMLS ID:C4017540 | MONDO:0100177 | allergic rhinitis, susceptibility to" +BMGC_DS15647,BMG_DS058520,MeSH ID:D028361 | Mitochondrial Diseases | UMLS ID:C4021734 | Mitochondrial Dysfunction +BMGC_DS15648,BMG_DS058521,Generalized-onset myoclonic epileptic seizure | Generalized myoclonic seizure | Generalised myoclonic seizure | Generalised onset myoclonic epileptic seizure | Generalized onset myoclonic epileptic seizure (finding) | Generalised-onset myoclonic epileptic seizure | UMLS ID:C4021759 | Generalized onset myoclonic epileptic seizure | SNOMEDCT ID:1208972001 +BMGC_DS15649,BMG_DS058522,UMLS ID:C4021765 | MONDO:0002602 | central nervous system disorder +BMGC_DS15650,BMG_DS058523,UMLS ID:C4021780 | MONDO:0005154 | liver disorder +BMGC_DS15651,BMG_DS058525,ovarian disorder | MONDO:0005558 | UMLS ID:C4021818 +BMGC_DS15652,BMG_DS058541,OMIM ID:MTHU072476 | UMLS ID:C4023106 | Obstructive azoospermia +BMGC_DS15653,BMG_DS058545,MONDO:0019860 | Congenital hemiagenesis of thyroid | UMLS ID:C4023190 | Congenital absence of half of thyroid | Thyroid hemiagenesis | thyroid hemiagenesis | Congenital absence of half of thyroid (disorder) | SNOMEDCT ID:715734006 +BMGC_DS15654,BMG_DS058554,Myoclonic absence seizure | SNOMEDCT ID:1208629005 | UMLS ID:C4023512 | Myoclonic absence seizure (finding) +BMGC_DS15655,BMG_DS058558,acromial dimples | MONDO:0007054 | OMIM ID:102350 | UMLS ID:C4023704 +BMGC_DS15656,BMG_DS058566,UMLS ID:C4024851 | MONDO:0017675 | punctate palmoplantar keratoderma +BMGC_DS15657,BMG_DS058567,"OMIM ID:602032 | UMLS ID:C4024880 | MONDO:0011177 | ectodermal dysplasia 4, hair/nail type" +BMGC_DS15658,BMG_DS058568,OMIM ID:MTHU067948 | Mixed demyelinating and axonal polyneuropathy | UMLS ID:C4024907 +BMGC_DS15659,BMG_DS058570,Lower limb amyotrophy | OMIM ID:MTHU055737 | UMLS ID:C4024921 +BMGC_DS15660,BMG_DS058573,UMLS ID:C4024957 | OMIM ID:MTHU078224 | Proximal spinal muscular atrophy | MONDO:0019079 | proximal spinal muscular atrophy +BMGC_DS15661,BMG_DS058574,SNOMEDCT ID:715905006 | Unilateral polymicrogyria | MONDO:0017092 | unilateral polymicrogyria | Unilateral polymicrogyria (disorder) | UMLS ID:C4024960 +BMGC_DS15662,BMG_DS058579,UMLS ID:C4025218 | Vasculitis of large artery (disorder) | Large vessel vasculitis | SNOMEDCT ID:724597006 | Vasculitis of large artery +BMGC_DS15663,BMG_DS058581,OMIM ID:MTHU073510 | Congenital lactic acidosis | UMLS ID:C4025276 +BMGC_DS15664,BMG_DS058582,UMLS ID:C4025295 | OMIM ID:139600 | MONDO:0007693 | hypertrichosis cubiti-short stature syndrome +BMGC_DS15665,BMG_DS058586,specific learning disability | MONDO:0016225 | UMLS ID:C4025790 +BMGC_DS15666,BMG_DS058588,UMLS ID:C4025831 | peripheral nervous system disorder | MONDO:0003620 +BMGC_DS15667,BMG_DS058589,optic choroid disorder | MONDO:0001898 | UMLS ID:C4025836 +BMGC_DS15668,BMG_DS058621,Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome | UMLS ID:C4038730 | MeSH ID:D000080445 +BMGC_DS15669,BMG_DS058636,UMLS ID:C4038767 | SNOMEDCT ID:1082711000119108 | Gastric hemorrhage due to angiodysplasia of stomach (disorder) | Gastric haemorrhage due to angiodysplasia of stomach | Gastric hemorrhage due to angiodysplasia of stomach +BMGC_DS15670,BMG_DS058840,MeSH ID:D012131 | Respiratory Insufficiency | Acute Hypoxemic Respiratory Failure | UMLS ID:C4039867 +BMGC_DS15671,BMG_DS058948,UMLS ID:C4040419 | MeSH ID:D012131 | Respiratory Insufficiency | Acute Hypercapnic Respiratory Failure +BMGC_DS15672,BMG_DS058965,SNOMEDCT ID:10625231000119106 | UMLS ID:C4040491 | Bronchopneumonia caused by Haemophilus influenzae (disorder) | Bronchopneumonia caused by Haemophilus influenzae +BMGC_DS15673,BMG_DS059003,"MONDO:0013875 | MEGDEL syndrome | UMLS ID:C4040739 | SNOMEDCT ID:711409002 | OMIM ID:614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)" +BMGC_DS15674,BMG_DS059148,"cone-rod synaptic disorder, congenital nonprogressive | UMLS ID:C4041558 | MeSH ID:C536122 | MONDO:0012490 | Cone-rod synaptic disorder, congenital nonprogressive | OMIM ID:610427" +BMGC_DS15675,BMG_DS059341,ICD10 ID:E20.810 | Autosomal dominant hypocalcemia (disorder) | Familial hypocalcemia | Autosomal dominant hypoparathyroidism | UMLS ID:C4048195 | SNOMEDCT ID:711152006 | Familial hypercalciuric hypocalcemia | Familial hypocalcaemia | autosomal dominant hypocalcemia | MONDO:0018543 | Autosomal dominant hypocalcaemia | Autosomal dominant hypocalcemia | Familial hypercalciuric hypocalcaemia +BMGC_DS15676,BMG_DS059342,MONDO:0009562 | beta-mannosidosis | MeSH ID:D044905 | OMIM ID:248510 | DOID:3633 | beta-Mannosidosis | UMLS ID:C4048196 +BMGC_DS15677,BMG_DS059343,Hydronephrosis Due To Pujo | MeSH ID:C537373 | UMLS ID:C4048262 +BMGC_DS15678,BMG_DS059344,SNOMEDCT ID:95686007 | OMIM ID:MTHU018963 | Chorioretinal atrophy (disorder) | Chorioretinal atrophy | UMLS ID:C4048273 +BMGC_DS15679,BMG_DS059348,multiple endocrine neoplasia type 2 | UMLS ID:C4048306 | MONDO:0019003 +BMGC_DS15680,BMG_DS059349,cervical cancer | UMLS ID:C4048328 | OMIM ID:603956 | MONDO:0002974 +BMGC_DS15681,BMG_DS059352,Hypermethioninaemia | DOID:0050544 | (Methioninaemia) or (hypermethioninaemia) | OMIM ID:MTHU003943 | Hypermethioninemia (disorder) | SNOMEDCT ID:43123004 | MONDO:0000351 | hypermethioninemia | UMLS ID:C4048705 | MeSH ID:C564683 | Hypermethioninemia | Methioninaemia | (Methioninemia) or (hypermethioninemia) | SNOMEDCT ID:190708000 | disorder of methionine catabolism | (Methioninaemia) or (hypermethioninaemia) (disorder) +BMGC_DS15682,BMG_DS059353,"SNOMEDCT ID:410796000 | Juvenile seropositive arthritis | Juvenile seropositive polyarthritis (disorder) | Juvenile seropositive polyarthritis | UMLS ID:C4048747 | Juvenile chronic arthritis, polyarticular seropositive | Juvenile idiopathic arthritis, polyarthritis, rheumatoid factor positive | Juvenile rheumatoid arthritis, seropositive" +BMGC_DS15683,BMG_DS059354,Sphincter of Oddi Dyskinesia | MeSH ID:D046628 | UMLS ID:C4048750 | Sphincter of Oddi Dysfunction +BMGC_DS15684,BMG_DS059355,SMARCB1-related schwannomatosis | MONDO:0024517 | OMIM ID:162091 | UMLS ID:C4048809 +BMGC_DS15685,BMG_DS059357,cataract 40 | OMIM ID:300457 | UMLS ID:C4049004 | MONDO:0010544 | OMIM ID:302200 | CATARACT 40 +BMGC_DS15686,BMG_DS059359,OMIM ID:616502 | cone-rod dystrophy 21 | MONDO:0014669 | UMLS ID:C4049066 +BMGC_DS15687,BMG_DS059360,"OMIM ID:109200 | MONDO:0007184 | alopecia, androgenetic, 1 | UMLS ID:C4049090" +BMGC_DS15688,BMG_DS059361,UMLS ID:C4049241 | Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency | PXE (pseudoxanthoma elasticum) like syndrome | Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder) | SNOMEDCT ID:717941005 | Pseudoxanthoma elasticum-like syndrome +BMGC_DS15689,BMG_DS059365,kidney medullary carcinoma | MONDO:0006260 | DOID:0070475 | UMLS ID:C4049328 | SMARCB1-deficient renal medullary carcinoma +BMGC_DS15690,BMG_DS059372,UMLS ID:C4049650 | MONDO:0024536 | OMIM ID:202200 | glucocorticoid deficiency 1 +BMGC_DS15691,BMG_DS059373,MONDO:0011826 | OMIM ID:607398 | UMLS ID:C4049714 | glucocorticoid deficiency 2 +BMGC_DS15692,BMG_DS059378,Ectopic neurohypophysis | OMIM ID:MTHU074262 | Pituitary stalk interruption syndrome (disorder) | Pituitary stalk interruption syndrome | UMLS ID:C4053775 | pituitary stalk interruption syndrome | MONDO:0019828 | SNOMEDCT ID:715727009 +BMGC_DS15693,BMG_DS059381,MONDO:0019182 | UMLS ID:C4054476 | OMIM ID:601665 | inherited obesity +BMGC_DS15694,BMG_DS059382,macrocystic neurilemmoma | UMLS ID:C4054526 | DOID:3203 | MONDO:0002556 | microcystic/reticular schwannoma +BMGC_DS15695,BMG_DS059384,MONDO:0008733 | Familial glucocorticoid deficiency | SNOMEDCT ID:765326001 | familial glucocorticoid deficiency | Familial glucocorticoid deficiency (disorder) | UMLS ID:C4054695 +BMGC_DS15696,BMG_DS059386,Congenital isolated adrenocorticotropic hormone deficiency | SNOMEDCT ID:1231283007 | Congenital isolated adrenocorticotropic hormone deficiency (disorder) | Congenital isolated ACTH (adrenocorticotropic hormone) deficiency | UMLS ID:C4055196 +BMGC_DS15697,BMG_DS059388,UMLS ID:C4055342 | OMIM ID:614809 | C3 glomerulonephritis | MONDO:0013892 +BMGC_DS15698,BMG_DS059389,DOID:0070632 | UMLS ID:C4055493 | acute myeloid leukemia with MNX1-ETV6 fusion +BMGC_DS15699,BMG_DS059590,Urinary tract infection caused by Klebsiella (disorder) | Urinary tract infection caused by Klebsiella | SNOMEDCT ID:369001000119100 | UMLS ID:C4076057 +BMGC_DS15700,BMG_DS059722,MeSH ID:C537262 | Autosomal Dominant Hereditary Pancreatitis | UMLS ID:C4080064 +BMGC_DS15701,BMG_DS060005,OMIM ID:237300 | Carbamoyl-Phosphate Synthase I Deficiency Disease | Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency | MeSH ID:D020165 | carbamoyl phosphate synthetase I deficiency disease | MONDO:0009376 | UMLS ID:C4082171 +BMGC_DS15702,BMG_DS060006,SNOMEDCT ID:65705009 | OMIM ID:MTHU017161 | Porencephalic cyst | Porencephalic cyst (disorder) | UMLS ID:C4082172 +BMGC_DS15703,BMG_DS060007,porencephaly | MONDO:0017410 | OMIM ID:MTHU007068 | SNOMEDCT ID:193045003 | Porencephaly (disorder) | Porencephaly | UMLS ID:C4082173 | MeSH ID:D065708 +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 | SNOMEDCT ID:715795005 | Charcot-Marie-Tooth disease type 4 (disorder) | MONDO:0018995 +BMGC_DS15706,BMG_DS060011,UMLS ID:C4082299 | SNOMEDCT ID:230547002 | OMIM ID:MTHU027729 | Bulbar palsy | Bulbar palsy (disorder) +BMGC_DS15707,BMG_DS060012,UMLS ID:C4082305 | MeSH ID:D003638 | Deaf Mutism | Deafness +BMGC_DS15708,BMG_DS060013,Onychomycosis due to dermatophyte | Tinea unguium | Tinea of nail | UMLS ID:C4082762 | Dermatophytosis of nail | SNOMEDCT ID:402134005 | Onychomycosis caused by dermatophyte | Onychomycosis caused by dermatophyte (disorder) +BMGC_DS15709,BMG_DS060017,OMIM ID:300830 | CHROMOSOME Xp22 DELETION SYNDROME | UMLS ID:C4082794 +BMGC_DS15710,BMG_DS060018,Necrotizing enterocolitis in fetus OR newborn | Necrotizing enterocolitis | SNOMEDCT ID:2707005 | Pseudomembranous enterocolitis in newborn | NEC - Necrotising enterocolitis | perinatal necrotizing enterocolitis | MONDO:0004639 | NEC - Necrotizing enterocolitis | Necrotising enterocolitis in foetus OR newborn | UMLS ID:C4082937 | Necrotising enterocolitis | Necrotizing enterocolitis in fetus OR newborn (disorder) | Necrotising enterocolitis in fetus OR newborn +BMGC_DS15711,BMG_DS060019,MONDO:0018687 | progressive muscular atrophy | UMLS ID:C4082951 +BMGC_DS15712,BMG_DS060020,MeSH ID:D004387 | Dupuytren Contracture | Dupuytren's Disease | UMLS ID:C4082974 +BMGC_DS15713,BMG_DS060021,"Guillain-Barre Syndrome, Familial | Guillain-Barre syndrome, familial | UMLS ID:C4083008 | OMIM ID:139393 | MONDO:0007691 | MeSH ID:D020275 | Guillain-Barre Syndrome" +BMGC_DS15714,BMG_DS060022,"MONDO:0011896 | UMLS ID:C4083045 | Parkinson disease 11, autosomal dominant, susceptibility to | OMIM ID:607688" +BMGC_DS15715,BMG_DS060023,spondylocostal dysostosis 5 | OMIM ID:602427 | SPONDYLOCOSTAL DYSOSTOSIS 5 | OMIM ID:122600 | UMLS ID:C4083048 | DOID:0112363 | MONDO:0007389 +BMGC_DS15716,BMG_DS060025,"baldness, male pattern | UMLS ID:C4083212 | Alopecia, Male Pattern | MONDO:0800201 | Alopecia | MeSH ID:D000505" +BMGC_DS15717,BMG_DS060026,"Trichothiodystrophy, Nonphotosensitive 1 | DOID:0111868;DOID:2960 | nonphotosensitive trichothiodystrophy 5 | UMLS ID:C4083251 | MeSH ID:D054463 | photosensitive trichothiodystrophy | Trichothiodystrophy Syndromes" +BMGC_DS15718,BMG_DS060027,"autosomal dominant nonsyndromic hearing loss 40 | DEAFNESS, AUTOSOMAL DOMINANT 40 | MONDO:0014603 | OMIM ID:616357 | OMIM ID:123740 | UMLS ID:C4084708" +BMGC_DS15719,BMG_DS060028,"DEAFNESS, AUTOSOMAL RECESSIVE 97 | UMLS ID:C4084709 | autosomal recessive nonsyndromic hearing loss 97 | MONDO:0014739 | OMIM ID:616705 | OMIM ID:164860" +BMGC_DS15720,BMG_DS060029,"autosomal dominant nonsyndromic hearing loss 67 | MONDO:0014594 | UMLS ID:C4084712 | OMIM ID:606731 | OMIM ID:616340 | DEAFNESS, AUTOSOMAL DOMINANT 67" +BMGC_DS15721,BMG_DS060031,"OMIM ID:156560 | OMIM ID:616280 | UMLS ID:C4084821 | MONDO:0014566 | Charcot-Marie-Tooth disease axonal type 2U | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U" +BMGC_DS15722,BMG_DS060032,JOUBERT SYNDROME 23 | OMIM ID:616490 | DOID:0110992 | OMIM ID:610178 | MONDO:0014664 | UMLS ID:C4084822 | Joubert syndrome 23 +BMGC_DS15723,BMG_DS060033,"DOID:0110663 | MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL | congenital myasthenic syndrome 1A | OMIM ID:100690 | UMLS ID:C4084823 | OMIM ID:601462" +BMGC_DS15724,BMG_DS060034,"MONDO:0014638 | OMIM ID:610538 | DOID:0111081 | OMIM ID:616435 | UMLS ID:C4084840 | FANCONI ANEMIA, COMPLEMENTATION GROUP T | Fanconi anemia complementation group T" +BMGC_DS15725,BMG_DS060035,JOUBERT SYNDROME 24 | MONDO:0014724 | Joubert syndrome 24 | UMLS ID:C4084841 | OMIM ID:616654 | DOID:0110993 | OMIM ID:613846 +BMGC_DS15726,BMG_DS060036,DOID:0110994 | MONDO:0014770 | OMIM ID:616690 | OMIM ID:616781 | UMLS ID:C4084842 | Joubert syndrome 25 | JOUBERT SYNDROME 25 +BMGC_DS15727,BMG_DS060037,JOUBERT SYNDROME 26 | DOID:0110995 | UMLS ID:C4084843 | MONDO:0014771 | Joubert syndrome 26 | OMIM ID:616784 | OMIM ID:616650 +BMGC_DS15728,BMG_DS060039,MEND syndrome | UMLS ID:C4085243 | MEND SYNDROME | DOID:0111865 | MONDO:0010498 | OMIM ID:300205 | OMIM ID:300960 +BMGC_DS15729,BMG_DS060040,OMIM ID:609143 | UMLS ID:C4085248 | OMIM ID:607278 | MONDO:0011806 | osteofibrous dysplasia +BMGC_DS15730,BMG_DS060041,MONDO:0024569 | DOID:0111439 | UMLS ID:C4085249 | OMIM ID:616648 | optic atrophy 8 | OPTIC ATROPHY 8 +BMGC_DS15731,BMG_DS060042,Paget's disease of bone 6 | UMLS ID:C4085250 | OMIM ID:616833 | Paget disease of bone 6 | PAGET DISEASE OF BONE 6 | DOID:0081369 | OMIM ID:610568 | MONDO:0014792 +BMGC_DS15732,BMG_DS060043,"Paget disease of bone 2, early-onset | OMIM ID:603499 | UMLS ID:C4085251 | MONDO:0011183 | DOID:0081365 | Paget's disease of bone 2 | OMIM ID:602080 | PAGET DISEASE OF BONE 2, EARLY-ONSET" +BMGC_DS15733,BMG_DS060044,Paget's disease of bone 3 | DOID:0081366 | PAGET DISEASE OF BONE 3 | OMIM ID:601530 | MONDO:0008176 | OMIM ID:167250 | UMLS ID:C4085252 | Paget disease of bone 3 +BMGC_DS15734,BMG_DS060046,"Dupuytren Contracture | Fibromatosis, Palmar | MONDO:0006345 | MeSH ID:D004387 | UMLS ID:C4085370 | palmar fibromatosis" +BMGC_DS15735,BMG_DS060047,UMLS ID:C4085580 | MeSH ID:D020165 | Carbamoyl Phosphate Synthase 1 Deficiency | Carbamoyl-Phosphate Synthase I Deficiency Disease +BMGC_DS15736,BMG_DS060048,UMLS ID:C4085590 | MeSH ID:D000071700 | cone-rod dystrophy | Cone-Rod Dystrophies | MONDO:0015993 +BMGC_DS15737,BMG_DS060049,MONDO:0014648 | Al-Raqad syndrome | OMIM ID:610534 | UMLS ID:C4085595 | AL-RAQAD SYNDROME | OMIM ID:616459 +BMGC_DS15738,BMG_DS060050,MONDO:0014609 | OMIM ID:604417 | UMLS ID:C4085597 | OMIM ID:616368 | cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | CHOPS SYNDROME +BMGC_DS15739,BMG_DS060051,OMIM ID:612778 | LUSCAN-LUMISH SYNDROME | UMLS ID:C4085873 | MONDO:0014791 | OMIM ID:616831 | Luscan-Lumish syndrome +BMGC_DS15740,BMG_DS060055,MONDO:0010080 | Familial infantile striatonigral degeneration | UMLS ID:C4087174 | Familial infantile bilateral striatal necrosis | Familial infantile striatonigral necrosis | familial infantile bilateral striatal necrosis | Familial infantile bilateral striatal necrosis (disorder) | Familial IBSN (infantile bilateral striatal necrosis) | OMIM ID:271930 | SNOMEDCT ID:1208478005 +BMGC_DS15741,BMG_DS060060,MONDO:0018013 | UMLS ID:C4087273 | non-immunoglobulin-mediated membranoproliferative glomerulonephritis +BMGC_DS15742,BMG_DS060063,MONDO:0020380 | autosomal dominant cerebellar ataxia | UMLS ID:C4087347 +BMGC_DS15743,BMG_DS060068,"OMIM ID:174763 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 | MONDO:0009783 | DOID:0111522 | UMLS ID:C4225153 | autosomal recessive progressive external ophthalmoplegia 1 | OMIM ID:258450 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" +BMGC_DS15744,BMG_DS060069,"mitochondrial complex IV deficiency nuclear type 9 | UMLS ID:C4225154 | DOID:0080359 | MONDO:0014667 | OMIM ID:613920 | OMIM ID:616500 | cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9" +BMGC_DS15745,BMG_DS060070,"autosomal recessive pyridoxine-refractory sideroblastic anemia 3 | MONDO:0014804 | sideroblastic anemia 3 | DOID:0080343 | OMIM ID:616860 | ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY | UMLS ID:C4225155" +BMGC_DS15746,BMG_DS060071,"UMLS ID:C4225156 | intellectual disability, autosomal dominant 34 | OMIM ID:616351 | MONDO:0014599" +BMGC_DS15747,BMG_DS060072,familial adenomatous polyposis 3 | OMIM ID:602656 | MONDO:0014630 | OMIM ID:616415 | DOID:0080411 | UMLS ID:C4225157 | FAMILIAL ADENOMATOUS POLYPOSIS 3 +BMGC_DS15748,BMG_DS060073,Spinocerebellar ataxia type 41 | MONDO:0014626 | OMIM ID:616410 | UMLS ID:C4225158 | SNOMEDCT ID:1208512000 | Spinocerebellar ataxia type 41 (disorder) | spinocerebellar ataxia type 41 +BMGC_DS15749,BMG_DS060074,"DOID:0080687 | MONDO:0010415 | REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET | OMIM ID:300718 | UMLS ID:C4225159 | OMIM ID:300163 | reducing body myopathy 1B | myopathy, reducing body, X-linked, childhood-onset" +BMGC_DS15750,BMG_DS060075,SNOMEDCT ID:781386002 | Thiopurine poor metabolizer 2 | NUDT15 deficiency | UMLS ID:C4225160 | Nucleotide diphosphatase deficiency | Thiopurine poor metaboliser 2 | Deficiency of nudix hydrolase 15 (disorder) | Deficiency of nudix hydrolase 15 +BMGC_DS15751,BMG_DS060076,Complex lethal osteochondrodysplasia (disorder) | complex lethal osteochondrodysplasia | Complex lethal osteochondrodysplasia Symoens Barnes Gistelinck type | UMLS ID:C4225162 | Complex lethal osteochondrodysplasia | MONDO:0014821 | SNOMEDCT ID:1228858000 | OMIM ID:616897 +BMGC_DS15752,BMG_DS060077,mitochondrial DNA depletion syndrome 14 | mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) | MONDO:0014820 | UMLS ID:C4225163 | DOID:0080336 | OMIM ID:616896 +BMGC_DS15753,BMG_DS060078,"UMLS ID:C4225164 | OMIM ID:616894 | MONDO:0014819 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 | DOID:0060767 | autosomal dominant Robinow syndrome 3 | OMIM ID:601368" +BMGC_DS15754,BMG_DS060079,"OMIM ID:616893 | NEPHROTIC SYNDROME, TYPE 13 | OMIM ID:614352 | nephrotic syndrome, type 13 | nephrotic syndrome type 13 | DOID:0080381 | MONDO:0014818 | UMLS ID:C4225165" +BMGC_DS15755,BMG_DS060080,"UMLS ID:C4225166 | NEPHROTIC SYNDROME, TYPE 12 | OMIM ID:614351 | DOID:0080387 | nephrotic syndrome, type 12 | OMIM ID:616892 | nephrotic syndrome type 12 | MONDO:0014817" +BMGC_DS15756,BMG_DS060081,"OMIM ID:616887 | MONDO:0014815 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 52 | OMIM ID:609552 | intellectual disability, autosomal recessive 52 | DOID:0081215 | autosomal recessive intellectual developmental disorder 52 | UMLS ID:C4225168" +BMGC_DS15757,BMG_DS060082,"advanced sleep phase syndrome 3 | UMLS ID:C4225169 | MONDO:0014814 | OMIM ID:603427 | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 | OMIM ID:616882 | DOID:0110013" +BMGC_DS15758,BMG_DS060083,"OMIM ID:614908 | MONDO:0014813 | DOID:0060795 | OMIM ID:616881 | hypomyelinating leukodystrophy 13 | LEUKODYSTROPHY, HYPOMYELINATING, 13 | UMLS ID:C4225170" +BMGC_DS15759,BMG_DS060084,"cerebellar atrophy, visual impairment, and psychomotor retardation | OMIM ID:616875 | DOID:0081276 | CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION | UMLS ID:C4225172 | OMIM ID:616846 | MONDO:0014811 | cerebellar atrophy, visual impairment, and psychomotor retardation;" +BMGC_DS15760,BMG_DS060085,"UMLS ID:C4225173 | MONDO:0014810 | OMIM ID:603023 | IMMUNODEFICIENCY, COMMON VARIABLE, 13 | pancytopenia due to IKZF1 mutations | DOID:0081155 | OMIM ID:616873 | common variable immunodeficiency 13" +BMGC_DS15761,BMG_DS060086,MONDO:0014809 | OMIM ID:616871 | UMLS ID:C4225174 | DDX41-related hematologic malignancy predisposition syndrome +BMGC_DS15762,BMG_DS060087,OMIM ID:616867 | UMLS ID:C4225176 | SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 | spinal muscular atrophy with congenital bone fractures 2 | MONDO:0014807 | OMIM ID:614215 +BMGC_DS15763,BMG_DS060088,SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 | MONDO:0014806 | UMLS ID:C4225177 | spinal muscular atrophy with congenital bone fractures 1 | OMIM ID:271225 | OMIM ID:616866 | OMIM ID:604501 +BMGC_DS15764,BMG_DS060089,"Childhood-onset spasticity with hyperglycinaemia | Spasticity, ataxia, gait anomalies syndrome | spasticity-ataxia-gait anomalies syndrome | Childhood-onset spasticity with hyperglycinemia | Childhood-onset spasticity with variant non-ketotic hyperglycinemia | Childhood-onset spasticity with hyperglycinemia (disorder) | SNOMEDCT ID:773492007 | OMIM ID:616859 | UMLS ID:C4225178 | Childhood-onset spasticity with variant non-ketotic hyperglycinaemia | MONDO:0014803" +BMGC_DS15765,BMG_DS060090,UMLS ID:C4225179 | Cowden syndrome 7 | DOID:0081003 | COWDEN SYNDROME 7 | MONDO:0014802 | OMIM ID:616858 | OMIM ID:610512 +BMGC_DS15766,BMG_DS060091,"MONDO:0014801 | EVEN-plus syndrome | EVEN (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome | UMLS ID:C4225180 | Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome | even-plus syndrome | OMIM ID:616854 | Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | SNOMEDCT ID:1260203008" +BMGC_DS15767,BMG_DS060092,Progressive scapulohumeroperoneal distal myopathy | progressive scapulohumeroperoneal distal myopathy | SNOMEDCT ID:1217226000 | UMLS ID:C4225181 | Progressive scapulohumeroperoneal distal myopathy (disorder) | OMIM ID:616852 | MONDO:0014800 +BMGC_DS15768,BMG_DS060093,MONDO:0014799 | OMIM ID:616851 | cataract 45 | CATARACT 45 | OMIM ID:616655 | UMLS ID:C4225182 +BMGC_DS15769,BMG_DS060094,"brachydactyly type A1D | MONDO:0014798 | UMLS ID:C4225183 | OMIM ID:616849 | OMIM ID:603248 | BRACHYDACTYLY, TYPE A1, D | DOID:0110978" +BMGC_DS15770,BMG_DS060095,PIEZO1-related lymphatic-related hydrops fetalis | MONDO:0014797 | PIEZO1-related generalised lymphatic dysplasia with systemic involvement | PIEZO1-related generalized lymphatic dysplasia with systemic involvement | Piezo type mechanosensitive ion channel component 1-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) | Generalized lymphatic dysplasia of Fotiou | SNOMEDCT ID:1222667006 | PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | lymphatic malformation 6 | Generalised lymphatic dysplasia of Fotiou | PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | Piezo type mechanosensitive ion channel component 1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | OMIM ID:616843 | UMLS ID:C4225184 +BMGC_DS15771,BMG_DS060096,MONDO:0014796 | autosomal recessive early-onset Parkinson disease 23 | UMLS ID:C4225186 | OMIM ID:616840 +BMGC_DS15772,BMG_DS060097,"exercise intolerance, riboflavin-responsive | OMIM ID:616839 | EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE | UMLS ID:C4225187 | MONDO:0014795 | OMIM ID:138480" +BMGC_DS15773,BMG_DS060098,MONDO:0014794 | UMLS ID:C4225188 | Meier-Gorlin syndrome 6 | DOID:0080517 | OMIM ID:602842 | MEIER-GORLIN SYNDROME 6 | OMIM ID:616835 +BMGC_DS15774,BMG_DS060099,TMEM199 congenital disorder of glycosylation | SNOMEDCT ID:1208738002 | Congenital disorder of glycosylation type IIp | CDG (congenital disorder of glycosylation) syndrome type IIp | MONDO:0014790 | OMIM ID:616829 | TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation | TMEM199-CDG | Transmembrane protein 199 congenital disorder of glycosylation (disorder) | UMLS ID:C4225190 | Carbohydrate deficient glycoprotein syndrome type IIp | Transmembrane protein 199 congenital disorder of glycosylation +BMGC_DS15775,BMG_DS060100,Congenital disorder of glycosylation type 2o | Carbohydrate deficient glycoprotein syndrome type IIo | Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) | OMIM ID:616828 | CCDC115-CDG | CCDC115-CDG - coiled-coil domain containing 115 congenital disorder of glycosylation | UMLS ID:C4225191 | MONDO:0014789 | Congenital disorder of glycosylation type IIo | Coiled-coil domain containing 115 congenital disorder of glycosylation | CCDC115 congenital disorder of glycosylation | SNOMEDCT ID:1187174002 +BMGC_DS15776,BMG_DS060101,SNOMEDCT ID:1179297007 | OMIM ID:616827 | MONDO:0014788 | LIM zinc finger domain containing 2-related limb girdle muscular dystrophy | Limb girdle muscular dystrophy type 2W | Autosomal recessive limb girdle muscular dystrophy type 2W | LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (disorder) | autosomal recessive limb-girdle muscular dystrophy type 2W | UMLS ID:C4225192 | LIMS2-related limb girdle muscular dystrophy +BMGC_DS15777,BMG_DS060102,"SNOMEDCT ID:1208727002 | 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 | MONDO:0014787 | severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | OMIM ID:616819 | UMLS ID:C4225193" +BMGC_DS15778,BMG_DS060103,"OMIM ID:616818 | IgA nephropathy, susceptibility to, 3 | MONDO:0014786 | UMLS ID:C4225194" +BMGC_DS15779,BMG_DS060104,"OMIM ID:613257 | UMLS ID:C4225195 | OMIM ID:616817 | microcephaly, short stature, and impaired glucose metabolism 2 | MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 | MONDO:0014785" +BMGC_DS15780,BMG_DS060105,"OMIM ID:616735 | severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | MONDO:0014784 | OMIM ID:616816 | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION | UMLS ID:C4225196" +BMGC_DS15781,BMG_DS060106,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15 | OMIM ID:612399 | OMIM ID:616814 | UMLS ID:C4225197 +BMGC_DS15782,BMG_DS060107,hyperphosphatasia with impaired intellectual development syndrome 6 | hyperphosphatasia with intellectual disability syndrome 6 | MONDO:0014780 | HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6 | DOID:0070437 | OMIM ID:616809 | OMIM ID:610662 | UMLS ID:C4225201 +BMGC_DS15783,BMG_DS060108,Lamb Shaffer syndrome | UMLS ID:C4225202 | OMIM ID:616803 | SNOMEDCT ID:1251453008 | Lamb Shaffer syndrome (disorder) | Lamb-Shaffer syndrome | MONDO:0014778 | SOX5 haploinsufficiency syndrome +BMGC_DS15784,BMG_DS060109,"MONDO:0014777 | OMIM ID:612636 | OMIM ID:616801 | UMLS ID:C4225203 | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 | hypotonia, infantile, with psychomotor retardation and characteristic facies 2" +BMGC_DS15785,BMG_DS060110,Spinocerebellar ataxia type 42 (disorder) | SNOMEDCT ID:1208513005 | OMIM ID:616795 | MONDO:0014776 | UMLS ID:C4225205 | spinocerebellar ataxia type 42 | Spinocerebellar ataxia type 42 +BMGC_DS15786,BMG_DS060111,"UMLS ID:C4225207 | neuroblastoma, susceptibility to, 7 | MONDO:0014774 | OMIM ID:616792" +BMGC_DS15787,BMG_DS060112,cardiac anomalies - developmental delay - facial dysmorphism syndrome | OMIM ID:616789 | MONDO:0014773 | UMLS ID:C4225208 | IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS +BMGC_DS15788,BMG_DS060113,OMIM ID:616788 | UMLS ID:C4225209 | orofacial cleft 15 | MONDO:0014772 +BMGC_DS15789,BMG_DS060114,oocyte maturation defect 2 | MONDO:0021573 | UMLS ID:C4225210 | OMIM ID:616768 | OMIM ID:616780 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2 +BMGC_DS15790,BMG_DS060115,"UMLS ID:C4225211 | OMIM ID:616779 | MONDO:0014768 | cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | OMIM ID:602194 | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2" +BMGC_DS15791,BMG_DS060116,Seckel syndrome 9 | UMLS ID:C4225212 | SECKEL SYNDROME 9 | OMIM ID:616777 | OMIM ID:605958 | DOID:0070005 | MONDO:0014767 +BMGC_DS15792,BMG_DS060117,OMIM ID:616763 | UMLS ID:C4225213 | OMIM ID:611893 | MONDO:0014766 | leukodystrophy and acquired microcephaly with or without dystonia; | LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA +BMGC_DS15793,BMG_DS060118,"MONDO:0014765 | DOID:0111574 | wooly hair, autosomal recessive 3 | OMIM ID:616760 | autosomal recessive woolly hair 3 | UMLS ID:C4225214 | WOOLLY HAIR, AUTOSOMAL RECESSIVE 3" +BMGC_DS15794,BMG_DS060119,OMIM ID:616756 | MONDO:0014764 | UMLS ID:C4225215 | SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES | OMIM ID:610876 | spastic paraplegia-severe developmental delay-epilepsy syndrome +BMGC_DS15795,BMG_DS060120,"OMIM ID:608416 | MONDO:0014762 | OMIM ID:616749 | HETEROTAXY, VISCERAL, 7, AUTOSOMAL | UMLS ID:C4225217 | heterotaxy, visceral, 7, autosomal" +BMGC_DS15796,BMG_DS060121,"UMLS ID:C4225218 | DOID:0080944 | OMIM ID:616744 | OMIM ID:191163 | familial Behcet-like autoinflammatory syndrome | autoinflammatory syndrome, familial, Behcet-like 1 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 1 | MONDO:0800045" +BMGC_DS15797,BMG_DS060122,"UMLS ID:C4225220 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51 | OMIM ID:616739 | DOID:0081214 | intellectual disability, autosomal recessive 51 | autosomal recessive intellectual developmental disorder 51 | OMIM ID:605238 | MONDO:0014759" +BMGC_DS15798,BMG_DS060123,OMIM ID:616738 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 | MONDO:0014758 | UMLS ID:C4225221 | radioulnar synostosis with amegakaryocytic thrombocytopenia 2 +BMGC_DS15799,BMG_DS060124,"UMLS ID:C4225222 | SNOMEDCT ID:1172685001 | Takenouchi Kosaki syndrome | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) | OMIM ID:616737 | macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome | MONDO:0014757" +BMGC_DS15800,BMG_DS060125,"TREMOR, HEREDITARY ESSENTIAL, 5 | OMIM ID:610084 | UMLS ID:C4225223 | essential tremor 5 | DOID:0111432 | MONDO:0014756 | OMIM ID:616736 | tremor, hereditary essential, 5" +BMGC_DS15801,BMG_DS060126,"MONDO:0014755 | skin creases, congenital symmetric circumferential, 2 | UMLS ID:C4225225 | OMIM ID:616734" +BMGC_DS15802,BMG_DS060127,"primary coenzyme Q10 deficiency 8 | MONDO:0014754 | UMLS ID:C4225226 | OMIM ID:601683 | COENZYME Q10 DEFICIENCY, PRIMARY, 8 | OMIM ID:616733 | DOID:0070245" +BMGC_DS15803,BMG_DS060128,"OMIM ID:616732 | UMLS ID:C4225227 | optic atrophy 10 | optic atrophy 10 with or without ataxia, intellectual disability, and seizures | DOID:0111434 | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | MONDO:0020737" +BMGC_DS15804,BMG_DS060129,"OMIM ID:607617 | OMIM ID:616730 | MONDO:0014752 | NEPHROTIC SYNDROME, TYPE 11 | nephrotic syndrome type 11 | UMLS ID:C4225228 | nephrotic syndrome, type 11 | DOID:0080385" +BMGC_DS15805,BMG_DS060130,"palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | OMIM ID:609132 | CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES | OMIM ID:616728 | MONDO:0014751 | UMLS ID:C4225229" +BMGC_DS15806,BMG_DS060131,"OMIM ID:616726 | OMIM ID:605178 | primary ciliary dyskinesia 33 | CILIARY DYSKINESIA, PRIMARY, 33 | MONDO:0014750 | UMLS ID:C4225230" +BMGC_DS15807,BMG_DS060132,"tooth agenesis, selective, 7 | OMIM ID:616724 | OMIM ID:603507 | UMLS ID:C4225231 | TOOTH AGENESIS, SELECTIVE, 7 | MONDO:0014749" +BMGC_DS15808,BMG_DS060133,Congenital disorder of glycosylation type 2n | Carbohydrate deficient glycoprotein syndrome type IIn | SNOMEDCT ID:1187171005 | OMIM ID:616721 | Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder) | UMLS ID:C4225234 | SLC39A8-CDG - solute carrier family 39 member 8 congenital disorder of glycosylation | Congenital disorder of glycosylation type IIn | Solute carrier family 39 member 8 congenital disorder of glycosylation | MONDO:0014746 | SLC39A8-CDG | SLC39A8 congenital disorder of glycosylation +BMGC_DS15809,BMG_DS060134,"UMLS ID:C4225235 | OMIM ID:120350 | MYASTHENIC SYNDROME, CONGENITAL, 19 | congenital myasthenic syndrome 19 | DOID:0110673 | OMIM ID:616720 | MONDO:0014745" +BMGC_DS15810,BMG_DS060135,MONDO:0014743 | UMLS ID:C4225237 | rhizomelic chondrodysplasia punctata type 5 | OMIM ID:616716 +BMGC_DS15811,BMG_DS060136,"UMLS ID:C4225238 | OMIM ID:616244 | DOID:0080504 | OMIM ID:616710 | PARKINSON DISEASE 22, AUTOSOMAL DOMINANT | MONDO:0014742 | Parkinson's disease 22 | Parkinson disease 22, autosomal dominant" +BMGC_DS15812,BMG_DS060137,DESANTO-SHINAWI SYNDROME | DOID:0081126 | OMIM ID:615049 | UMLS ID:C4225239 | OMIM ID:616708 | MONDO:0018760 | DeSanto-Shinawi syndrome +BMGC_DS15813,BMG_DS060138,"MONDO:0014740 | DEAFNESS, AUTOSOMAL DOMINANT 68 | UMLS ID:C4225240 | autosomal dominant nonsyndromic hearing loss 68 | OMIM ID:616707 | OMIM ID:604799" +BMGC_DS15814,BMG_DS060139,"DEAFNESS, AUTOSOMAL DOMINANT 69 | autosomal dominant nonsyndromic hearing loss 69 | OMIM ID:616697 | MONDO:0014738 | UMLS ID:C4225241 | OMIM ID:184745" +BMGC_DS15815,BMG_DS060140,UMLS ID:C4225242 | MONDO:0014737 | dehydrated hereditary stomatocytosis 2 | OMIM ID:602754 | DOID:0111577 | OMIM ID:616689 | DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 +BMGC_DS15816,BMG_DS060141,"MONDO:0014734 | epilepsy, idiopathic generalized, susceptibility to, 14 | UMLS ID:C4225245 | OMIM ID:616685" +BMGC_DS15817,BMG_DS060142,"SURF1-related Charcot-Marie-Tooth disease type 4 | SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) | SNOMEDCT ID:765047006 | MONDO:0014733 | UMLS ID:C4225246 | OMIM ID:616684 | SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 | SURF1-related severe demyelinating Charcot-Marie-Tooth disease | Charcot-Marie-Tooth disease type 4K" +BMGC_DS15818,BMG_DS060143,"OMIM ID:616683 | DOID:0060796 | OMIM ID:608549 | LEUKODYSTROPHY, HYPOMYELINATING, 12 | MONDO:0014732 | hypomyelinating leukodystrophy 12 | UMLS ID:C4225247" +BMGC_DS15819,BMG_DS060144,"SNOMEDCT ID:1187250005 | SSM (seizures, scoliosis, macrocephaly) syndrome | MONDO:0014731 | OMIM ID:616682 | UMLS ID:C4225248 | seizures-scoliosis-macrocephaly syndrome | Seizures, scoliosis, macrocephaly syndrome | Seizures, scoliosis, macrocephaly syndrome (disorder)" +BMGC_DS15820,BMG_DS060145,"microcephaly 16, primary, autosomal recessive | OMIM ID:616681 | DOID:0070289 | primary autosomal recessive microcephaly 16 | OMIM ID:616062 | MONDO:0014730 | UMLS ID:C4225249 | MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE" +BMGC_DS15821,BMG_DS060146,"UMLS ID:C4225250 | SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE | OMIM ID:159460 | hereditary spastic paraplegia 75 | OMIM ID:616680 | MONDO:0014729" +BMGC_DS15822,BMG_DS060147,MONDO:0014727 | IMMUNODEFICIENCY 45 | OMIM ID:616669 | UMLS ID:C4225252 | OMIM ID:602376 | DOID:0111994 | immunodeficiency 45 +BMGC_DS15823,BMG_DS060148,"ASCT1 deficiency | spastic tetraplegia, thin corpus callosum, and progressive microcephaly | spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | OMIM ID:616657 | UMLS ID:C4225254 | Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome | DOID:0070537 | SNOMEDCT ID:1237418002 | MONDO:0014725 | Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder) | Spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome" +BMGC_DS15824,BMG_DS060149,SNOMEDCT ID:1172899000 | Trisomy 17p11.2p12 | Yuan Harel Lupski syndrome | OMIM ID:616652 | PMP22-RAI1 contiguous gene duplication syndrome | Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | MONDO:0014723 | UMLS ID:C4225255 | Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome | 17p11.2p12 microduplication syndrome +BMGC_DS15825,BMG_DS060150,"Martsolf-like syndrome | MONDO:0014719 | developmental and epileptic encephalopathy, 35 | SNOMEDCT ID:1208747005 | UMLS ID:C4225256 | OMIM ID:616647 | ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)" +BMGC_DS15826,BMG_DS060151,"UMLS ID:C4225257 | OMIM ID:606726 | developmental and epileptic encephalopathy 34 | MONDO:0014718 | developmental and epileptic encephalopathy, 34 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 | DOID:0080460 | OMIM ID:616645" +BMGC_DS15827,BMG_DS060152,"DOID:0111445 | OMIM ID:616640 | MONDO:0014717 | EPILEPSY, PROGRESSIVE MYOCLONIC, 10 | OMIM ID:616639 | progressive myoclonus epilepsy 10 | early-onset Lafora body disease | UMLS ID:C4225258" +BMGC_DS15828,BMG_DS060153,"SNOMEDCT ID:1187304005 | OMIM ID:616638 | MINDS syndrome | MONDO:0014716 | macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | Smith Kingsmore syndrome | Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome | Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder) | MINDS (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome | UMLS ID:C4225259" +BMGC_DS15829,BMG_DS060154,DOID:0111975 | MONDO:0014715 | primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | IMMUNODEFICIENCY 44 | OMIM ID:600556 | immunodeficiency 44 | UMLS ID:C4225260 | OMIM ID:616636 +BMGC_DS15830,BMG_DS060155,"OMIM ID:134629 | OMIM ID:616631 | UMLS ID:C4225262 | POROKERATOSIS 9, MULTIPLE TYPES | MONDO:0014713 | porokeratosis 9, multiple types" +BMGC_DS15831,BMG_DS060156,UMLS ID:C4225263 | SENIOR-LOKEN SYNDROME 9 | OMIM ID:616629 | OMIM ID:607380 | Senior-Loken syndrome 9 | MONDO:0014712 +BMGC_DS15832,BMG_DS060157,HEIMLER SYNDROME 2 | UMLS ID:C4225267 | Heimler syndrome 2 | DOID:0080624 | OMIM ID:601498 | OMIM ID:616617 +BMGC_DS15833,BMG_DS060158,"cutis laxa, autosomal dominant 3 | CUTIS LAXA, AUTOSOMAL DOMINANT 3 | UMLS ID:C4225268 | OMIM ID:616603 | OMIM ID:138250 | MONDO:0014706" +BMGC_DS15834,BMG_DS060159,OMIM ID:616602 | CRANIOSYNOSTOSIS 6 | MONDO:0014705 | DOID:0061008 | craniosynostosis 6 | OMIM ID:600470 | UMLS ID:C4225269 +BMGC_DS15835,BMG_DS060160,"SNOMEDCT ID:1172898008 | MONDO:0014704 | OMIM ID:616592 | Kosaki overgrowth syndrome | skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | Kosaki overgrowth syndrome (disorder) | Skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome | UMLS ID:C4225270" +BMGC_DS15836,BMG_DS060161,ADAMS-OLIVER SYNDROME 6 | Adams-Oliver syndrome 6 | UMLS ID:C4225271 | OMIM ID:605185 | MONDO:0014703 | OMIM ID:616589 +BMGC_DS15837,BMG_DS060162,"Spondyloepiphyseal dysplasia Stanescu type (disorder) | SED (spondyloepiphyseal dysplasia) Stanescu type | SNOMEDCT ID:1228860003 | UMLS ID:C4225273 | spondyloepiphyseal dysplasia, Stanescu type | MONDO:0014701 | Spondyloepiphyseal dysplasia Stanescu type | OMIM ID:616583" +BMGC_DS15838,BMG_DS060163,UMLS ID:C4225274 | Au-Kline syndrome | OMIM ID:616580 | OMIM ID:604916 | MONDO:0014700 +BMGC_DS15839,BMG_DS060164,"microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | UMLS ID:C4225276 | SNOMEDCT ID:1254651003 | Microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome | OMIM ID:616577 | Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) | MONDO:0014698 | Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome" +BMGC_DS15840,BMG_DS060165,"OMIM ID:616576 | immunodeficiency, common variable, 12 | OMIM ID:164011 | DOID:0081154 | IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY | MONDO:0014697 | common variable immunodeficiency 12 | UMLS ID:C4225277" +BMGC_DS15841,BMG_DS060166,"OMIM ID:616566 | MONDO:0014694 | OMIM ID:609891 | UMLS ID:C4225279 | spondylocostal dysostosis 6 | spondylocostal dysostosis 6, autosomal recessive | SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE | DOID:0112360" +BMGC_DS15842,BMG_DS060167,Noonan syndrome 10 | NOONAN SYNDROME 10 | UMLS ID:C4225280 | MONDO:0014693 | OMIM ID:600574 | OMIM ID:616564 +BMGC_DS15843,BMG_DS060168,OMIM ID:616562 | RETINITIS PIGMENTOSA 74 | retinitis pigmentosa 74 | OMIM ID:606151 | UMLS ID:C4225281 | MONDO:0014692 +BMGC_DS15844,BMG_DS060169,OMIM ID:601247 | MONDO:0014691 | OMIM ID:616559 | NOONAN SYNDROME 9 | Noonan syndrome 9 | UMLS ID:C4225282 +BMGC_DS15845,BMG_DS060170,"UMLS ID:C4225283 | DOID:0070023 | OMIM ID:616553 | autosomal dominant dyskeratosis congenita 6 | MONDO:0800370 | OMIM ID:609377 | dyskeratosis congenita, autosomal recessive 7 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7" +BMGC_DS15846,BMG_DS060171,"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 | DOID:0070023 | OMIM ID:616553 | UMLS ID:C4225284 | autosomal dominant dyskeratosis congenita 6 | MONDO:0014690 | OMIM ID:609377 | dyskeratosis congenita, autosomal dominant 6" +BMGC_DS15847,BMG_DS060172,"OMIM ID:616549 | SNOMEDCT ID:1217225001 | Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome | Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder) | MONDO:0014689 | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | UMLS ID:C4225285" +BMGC_DS15848,BMG_DS060173,short-rib thoracic dysplasia 14 with polydactyly | OMIM ID:616546 | OMIM ID:610178 | UMLS ID:C4225286 | MONDO:0014688 | SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY +BMGC_DS15849,BMG_DS060174,UMLS ID:C4225287 | RETINITIS PIGMENTOSA 73 | MONDO:0014687 | OMIM ID:616544 | OMIM ID:610453 | retinitis pigmentosa 73 +BMGC_DS15850,BMG_DS060175,"short stature, microcephaly, and endocrine dysfunction | MONDO:0014686 | SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION | UMLS ID:C4225288 | OMIM ID:194363 | OMIM ID:616541" +BMGC_DS15851,BMG_DS060176,Progressive myoclonic epilepsy due to LMNB2 deficiency | progressive myoclonic epilepsy type 9 | Progressive myoclonic epilepsy type 9 (disorder) | SNOMEDCT ID:1228857005 | Progressive myoclonus epilepsy type 9 | Progressive myoclonic epilepsy type 9 | UMLS ID:C4225289 | PME (progressive myoclonic epilepsy) type 9 | MONDO:0014685 | OMIM ID:616540 | Progressive myoclonic epilepsy due to LMNB2 (lamin B2) deficiency +BMGC_DS15852,BMG_DS060177,"DOID:0111232 | UMLS ID:C4225291 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | OMIM ID:128239 | OMIM ID:616538 | MONDO:0014683 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | congenital muscular dystrophy-dystroglycanopathy type A9" +BMGC_DS15853,BMG_DS060178,"UMLS ID:C4225292 | MONDO:0014682 | thyroid cancer, nonmedullary, 5 | OMIM ID:616535" +BMGC_DS15854,BMG_DS060179,"thyroid cancer, nonmedullary, 4 | UMLS ID:C4225293 | MONDO:0014681 | OMIM ID:616534" +BMGC_DS15855,BMG_DS060180,"OMIM ID:616532 | herpes simplex encephalitis, susceptibility to, 7 | UMLS ID:C4225294 | MONDO:0014680" +BMGC_DS15856,BMG_DS060181,"OMIM ID:616531 | UMLS ID:C4225295 | polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | MONDO:0014679 | OMIM ID:600286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES" +BMGC_DS15857,BMG_DS060182,"UMLS ID:C4225296 | OMIM ID:613084 | autosomal dominant intellectual developmental disorder 39 | intellectual disability, autosomal dominant 39 | MONDO:0014678 | DOID:0070069 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39 | OMIM ID:616521" +BMGC_DS15858,BMG_DS060183,OMIM ID:616517 | DOID:0110009 | ACHROMATOPSIA 7 | achromatopsia 7 | OMIM ID:605537 | MONDO:0014677 | UMLS ID:C4225297 +BMGC_DS15859,BMG_DS060184,"autosomal recessive nonsyndromic hearing loss 104 | MONDO:0014675 | DEAFNESS, AUTOSOMAL RECESSIVE 104 | OMIM ID:611410 | UMLS ID:C4225298 | OMIM ID:616515" +BMGC_DS15860,BMG_DS060185,"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 | maturity-onset diabetes of the young type 14 | OMIM ID:616511 | DOID:0111111 | OMIM ID:604299 | MONDO:0014674 | UMLS ID:C4225299" +BMGC_DS15861,BMG_DS060186,CATARACT 44 | UMLS ID:C4225300 | OMIM ID:616509 | cataract 44 | MONDO:0014673 | OMIM ID:600909 +BMGC_DS15862,BMG_DS060187,"OMIM ID:182120 | osteogenesis imperfecta type 17 | UMLS ID:C4225301 | OMIM ID:616507 | OSTEOGENESIS IMPERFECTA, TYPE XVII | MONDO:0014672" +BMGC_DS15863,BMG_DS060188,"MONDO:0014671 | UMLS ID:C4225302 | neuropathy, hereditary motor and sensory, type 6B | OMIM ID:616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY" +BMGC_DS15864,BMG_DS060189,lethal congenital contracture syndrome 9 | UMLS ID:C4225303 | MONDO:0014670 | OMIM ID:616503 | OMIM ID:612243 | LETHAL CONGENITAL CONTRACTURE SYNDROME 9 +BMGC_DS15865,BMG_DS060190,"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 | OMIM ID:616501 | MONDO:0014668 | OMIM ID:614772 | DOID:0080360 | UMLS ID:C4225304 | mitochondrial complex IV deficiency nuclear type 13" +BMGC_DS15866,BMG_DS060191,"MONDO:0014666 | LEUKODYSTROPHY, HYPOMYELINATING, 11 | OMIM ID:610060 | UMLS ID:C4225305 | hypomyelinating leukodystrophy 11 | OMIM ID:616494" +BMGC_DS15867,BMG_DS060192,SILVER-RUSSELL SYNDROME 3 | Silver-Russell syndrome 3 | UMLS ID:C4225307 | OMIM ID:616489 | OMIM ID:147470 | MONDO:0014663 +BMGC_DS15868,BMG_DS060193,Hereditary sensory and autonomic neuropathy type VIII | MONDO:0014662 | UMLS ID:C4225308 | Hereditary sensory and autonomic neuropathy type 8 | Hereditary sensory and autonomic neuropathy type 8 (disorder) | OMIM ID:616488 | congenital insensitivity to pain-hypohidrosis syndrome | SNOMEDCT ID:1172838005 | HSAN8 - hereditary sensory and autonomic neuropathy type 8 +BMGC_DS15869,BMG_DS060194,"epidermolysis bullosa simplex with nail dystrophy | MONDO:0014661 | UMLS ID:C4225309 | EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE | OMIM ID:601282 | OMIM ID:616487" +BMGC_DS15870,BMG_DS060195,"OMIM ID:614397 | MONDO:0014660 | OMIM ID:616486 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES | primary autosomal recessive microcephaly 15 | UMLS ID:C4225310 | microcephaly 15, primary, autosomal recessive | DOID:0070277" +BMGC_DS15871,BMG_DS060196,"OMIM ID:615876 | CILIARY DYSKINESIA, PRIMARY, 32 | OMIM ID:616481 | primary ciliary dyskinesia 32 | UMLS ID:C4225311 | MONDO:0014657" +BMGC_DS15872,BMG_DS060197,"MONDO:0014656 | OMIM ID:604123 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 | UMLS ID:C4225312 | OMIM ID:616479 | DOID:0111515" +BMGC_DS15873,BMG_DS060198,UMLS ID:C4225313 | MONDO:0034022 | OMIM ID:120320 | Bethlem myopathy 2 | OMIM ID:616471 | BETHLEM MYOPATHY 2 +BMGC_DS15874,BMG_DS060199,MONDO:0014654 | DOID:0060948 | OMIM ID:616470 | OMIM ID:120320 | UMLS ID:C4225314 | Ullrich congenital muscular dystrophy 2 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 +BMGC_DS15875,BMG_DS060200,OMIM ID:616469 | RETINITIS PIGMENTOSA 72 | UMLS ID:C4225315 | retinitis pigmentosa 72 | OMIM ID:616454 | MONDO:0014653 +BMGC_DS15876,BMG_DS060201,exudative vitreoretinopathy 6 | OMIM ID:616468 | UMLS ID:C4225316 | DOID:0111410 | EXUDATIVE VITREORETINOPATHY 6 | OMIM ID:616454 | MONDO:0014652 +BMGC_DS15877,BMG_DS060202,"ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE | DOID:0060353 | UMLS ID:C4225317 | OMIM ID:616462 | OMIM ID:616404 | MONDO:0014651 | acrofacial dysostosis Cincinnati type" +BMGC_DS15878,BMG_DS060203,"EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 | MONDO:0014650 | familial temporal lobe epilepsy 8 | UMLS ID:C4225318 | OMIM ID:137035 | OMIM ID:616461 | DOID:0060754" +BMGC_DS15879,BMG_DS060204,"MONDO:0014649 | OMIM ID:616460 | UMLS ID:C4225319 | intellectual disability, autosomal recessive 50" +BMGC_DS15880,BMG_DS060205,"CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | UMLS ID:C4225320 | MONDO:0014647 | Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | OMIM ID:616457 | SNOMEDCT ID:1237417007 | Carbohydrate deficient glycoprotein syndrome type Iz | Congenital disorder of glycosylation type 1z | developmental and epileptic encephalopathy, 50 | Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder)" +BMGC_DS15881,BMG_DS060206,Zimmermann-Laband syndrome 2 | MONDO:0014646 | ZIMMERMANN-LABAND SYNDROME 2 | OMIM ID:616455 | OMIM ID:606939 | UMLS ID:C4225321 +BMGC_DS15882,BMG_DS060207,OMIM ID:616449 | Basel Vanagaite Smirin Yosef syndrome (disorder) | congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | MONDO:0014643 | UMLS ID:C4225323 | Basel Vanagaite Smirin Yosef syndrome | SNOMEDCT ID:1187644009 +BMGC_DS15883,BMG_DS060208,"MONDO:0014642 | UMLS ID:C4225324 | candidiasis, familial, 9 | OMIM ID:616445 | OMIM ID:610925 | CANDIDIASIS, FAMILIAL, 9" +BMGC_DS15884,BMG_DS060209,frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | UMLS ID:C4225325 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 | OMIM ID:616439 | MONDO:0014641 | DOID:0110069 | OMIM ID:604834 +BMGC_DS15885,BMG_DS060210,frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | UMLS ID:C4225326 | MONDO:0014640 | OMIM ID:616437 | OMIM ID:601530 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 | DOID:0110068 +BMGC_DS15886,BMG_DS060211,"OMIM ID:616436 | OMIM ID:600514 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 | familial temporal lobe epilepsy 7 | DOID:0060751 | UMLS ID:C4225327 | MONDO:0014639" +BMGC_DS15887,BMG_DS060212,OMIM ID:603122 | MONDO:0014637 | DOID:0111951 | UMLS ID:C4225328 | DOCK2 deficiency | immunodeficiency 40 | IMMUNODEFICIENCY 40 | OMIM ID:616433 +BMGC_DS15888,BMG_DS060213,"UMLS ID:C4225330 | microphthalmia, isolated, with coloboma 10 | MONDO:0014635 | OMIM ID:616428" +BMGC_DS15889,BMG_DS060214,"OMIM ID:608160 | MONDO:0014634 | UMLS ID:C4225331 | OMIM ID:616425 | 46,XY sex reversal 10 | DOID:0111775 | 46,XY SEX REVERSAL 10" +BMGC_DS15890,BMG_DS060215,"Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder) | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy | hypomyelinating leukodystrophy 10 | MONDO:0014632 | OMIM ID:616420 | PYCR2-related microcephaly, progressive leucoencephalopathy | SNOMEDCT ID:1237421000 | UMLS ID:C4225332 | PYCR2-related microcephaly, progressive leukoencephalopathy" +BMGC_DS15891,BMG_DS060216,"hypomagnesemia, seizures, and intellectual disability 1 | MONDO:0020787 | OMIM ID:616418 | UMLS ID:C4225333 | HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 1 | OMIM ID:607803" +BMGC_DS15892,BMG_DS060217,"OMIM ID:605237 | UMLS ID:C4225335 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 | OMIM ID:616413 | basal ganglia calcification, idiopathic, 6 | MONDO:0014628" +BMGC_DS15893,BMG_DS060218,dystonia 27 | DYSTONIA 27 | UMLS ID:C4225336 | MONDO:0014627 | OMIM ID:616411 | OMIM ID:120250 +BMGC_DS15894,BMG_DS060219,"DOID:0080463 | developmental and epileptic encephalopathy, 33 | MONDO:0014625 | OMIM ID:616409 | developmental and epileptic encephalopathy 33 | OMIM ID:602959 | UMLS ID:C4225337 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33" +BMGC_DS15895,BMG_DS060220,"OMIM ID:609321 | DOID:0070279 | MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE | primary autosomal recessive microcephaly 14 | microcephaly 14, primary, autosomal recessive | OMIM ID:616402 | UMLS ID:C4225338 | MONDO:0014623" +BMGC_DS15896,BMG_DS060221,"isolated focal non-epidermolytic palmoplantar keratoderma | focal nonepidermolytic palmoplantar keratoderma 2 | OMIM ID:616400 | MONDO:0014622 | UMLS ID:C4225339 | OMIM ID:607066 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 | DOID:0111711" +BMGC_DS15897,BMG_DS060222,OMIM ID:605411 | UMLS ID:C4225340 | Brugada syndrome 9 | BRUGADA SYNDROME 9 | MONDO:0014621 | OMIM ID:616399 +BMGC_DS15898,BMG_DS060223,"MONDO:0014620 | DOID:0090036 | OMIM ID:616386 | myoclonic dystonia 26 | UMLS ID:C4225341 | OMIM ID:616398 | DYSTONIA 26, MYOCLONIC" +BMGC_DS15899,BMG_DS060224,OMIM ID:616394 | retinitis pigmentosa 71 | UMLS ID:C4225342 | RETINITIS PIGMENTOSA 71 | MONDO:0014618 | OMIM ID:607386 +BMGC_DS15900,BMG_DS060225,"intellectual disability, autosomal dominant 38 | UMLS ID:C4225343 | OMIM ID:616393 | MONDO:0014617" +BMGC_DS15901,BMG_DS060226,"MONDO:0014615 | photosensitive trichothiodystrophy 2 | UMLS ID:C4225344 | DOID:0111869 | OMIM ID:616390 | TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE | OMIM ID:133510 | trichothiodystrophy 2, photosensitive" +BMGC_DS15902,BMG_DS060227,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G | DOID:0110714 | congenital stationary night blindness 1G | UMLS ID:C4225345 | MONDO:0014614 | OMIM ID:616389 | OMIM ID:139330" +BMGC_DS15903,BMG_DS060228,"MONDO:0014613 | OMIM ID:616373 | UMLS ID:C4225346 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | OMIM ID:608833" +BMGC_DS15904,BMG_DS060229,"MONDO:0014612 | OMIM ID:604212 | OMIM ID:616371 | UMLS ID:C4225347 | pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4" +BMGC_DS15905,BMG_DS060230,Multiple mitochondrial dysfunctions syndrome type 4 (disorder) | UMLS ID:C4225348 | multiple mitochondrial dysfunctions syndrome 4 | SNOMEDCT ID:1208621008 | OMIM ID:616370 | MMDS4 - multiple mitochondrial dysfunctions syndrome type 4 | MONDO:0014611 | Multiple mitochondrial dysfunctions syndrome type 4 +BMGC_DS15906,BMG_DS060231,Mandibulofacial dysostosis with alopecia (disorder) | MFDA - mandibulofacial dysostosis with alopecia | Mandibulofacial dysostosis with alopecia | SNOMEDCT ID:1216943004 | MONDO:0014608 | mandibulofacial dysostosis with alopecia | OMIM ID:616367 | UMLS ID:C4225349 +BMGC_DS15907,BMG_DS060232,"developmental and epileptic encephalopathy, 32 | UMLS ID:C4225350 | OMIM ID:616366 | MONDO:0014607" +BMGC_DS15908,BMG_DS060233,White Sutton syndrome (disorder) | UMLS ID:C4225351 | MONDO:0014606 | OMIM ID:616364 | SNOMEDCT ID:772127009 | White Sutton syndrome | intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +BMGC_DS15909,BMG_DS060234,"SNOMEDCT ID:1254650002 | MONDO:0014605 | Houge-Janssens syndrome 2 | UMLS ID:C4225352 | OMIM ID:616362 | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome" +BMGC_DS15910,BMG_DS060235,OMIM ID:616361 | Parkinson disease 21 | DOID:0111251 | MONDO:0014604 | PARKINSON DISEASE 21 | Parkinson's disease 21 | UMLS ID:C4225353 +BMGC_DS15911,BMG_DS060236,"Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | UMLS ID:C4225354 | SNOMEDCT ID:1254652005 | Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder) | Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome" +BMGC_DS15912,BMG_DS060237,"MONDO:0014600 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 | OMIM ID:604212 | UMLS ID:C4225356 | DOID:0070024 | autosomal recessive dyskeratosis congenita 6 | dyskeratosis congenita, autosomal recessive 6 | OMIM ID:616353" +BMGC_DS15913,BMG_DS060238,"MONDO:0014598 | developmental and epileptic encephalopathy, 31A | OMIM ID:616346 | UMLS ID:C4225357" +BMGC_DS15914,BMG_DS060239,OMIM ID:616345 | UMLS ID:C4225358 | immunodeficiency 39 | MONDO:0014597 | OMIM ID:605047 | DOID:0111969 | IMMUNODEFICIENCY 39 +BMGC_DS15915,BMG_DS060240,OMIM ID:123831 | lissencephaly 7 with cerebellar hypoplasia | LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA | UMLS ID:C4225359 | DOID:0112231 | OMIM ID:616342 | MONDO:0014596 +BMGC_DS15916,BMG_DS060241,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 | MONDO:0014595 | developmental and epileptic encephalopathy, 30 | OMIM ID:605705 | DOID:0080465 | OMIM ID:616341 | developmental and epileptic encephalopathy 30 | UMLS ID:C4225360" +BMGC_DS15917,BMG_DS060242,"DOID:0080451 | OMIM ID:601065 | UMLS ID:C4225361 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 | OMIM ID:616339 | developmental and epileptic encephalopathy 29 | developmental and epileptic encephalopathy, 29 | MONDO:0014593" +BMGC_DS15918,BMG_DS060243,"UMLS ID:C4225362 | OMIM ID:616335 | MONDO:0014592 | OMIM ID:609610 | DOID:0080107 | microcephaly and chorioretinopathy 3 | MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3" +BMGC_DS15919,BMG_DS060244,"UMLS ID:C4225363 | OMIM ID:616331 | MONDO:0014591 | autosomal dominant Robinow syndrome 2 | OMIM ID:601365 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | DOID:0060765" +BMGC_DS15920,BMG_DS060245,"DOID:0110683 | MONDO:0014590 | UMLS ID:C4225364 | OMIM ID:616330 | MYASTHENIC SYNDROME, CONGENITAL, 18 | congenital myasthenic syndrome 18" +BMGC_DS15921,BMG_DS060246,"OMIM ID:616329 | maturity-onset diabetes of the young type 13 | MONDO:0014589 | DOID:0111110 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 | UMLS ID:C4225365 | OMIM ID:600937" +BMGC_DS15922,BMG_DS060247,"DOID:0110675 | MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | UMLS ID:C4225367 | congenital myasthenic syndrome 11 | OMIM ID:601592 | OMIM ID:616326 | MONDO:0014588" +BMGC_DS15923,BMG_DS060248,"UMLS ID:C4225368 | DOID:0110670 | MONDO:0014587 | MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | congenital myasthenic syndrome 9 | OMIM ID:616325 | OMIM ID:601296" +BMGC_DS15924,BMG_DS060249,"OMIM ID:100725 | congenital myasthenic syndrome 4B | MONDO:0014586 | MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL | OMIM ID:616324 | UMLS ID:C4225369 | DOID:0110677" +BMGC_DS15925,BMG_DS060250,"MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | OMIM ID:616323 | DOID:0110664 | UMLS ID:C4225370 | congenital myasthenic syndrome 3C | MONDO:0014585 | OMIM ID:100720" +BMGC_DS15926,BMG_DS060251,"MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL | OMIM ID:616322 | congenital myasthenic syndrome 3B | DOID:0110665 | UMLS ID:C4225371 | MONDO:0014584 | OMIM ID:100720" +BMGC_DS15927,BMG_DS060252,"congenital myasthenic syndrome 3A | OMIM ID:616321 | MONDO:0014583 | MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL | UMLS ID:C4225372 | DOID:0110666 | OMIM ID:100720" +BMGC_DS15928,BMG_DS060253,"OMIM ID:616314 | congenital myasthenic syndrome 2C | OMIM ID:100710 | UMLS ID:C4225373 | MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | DOID:0110680 | MONDO:0014582" +BMGC_DS15929,BMG_DS060254,"UMLS ID:C4225374 | MONDO:0014581 | OMIM ID:616313 | MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL | DOID:0110681 | OMIM ID:100710 | congenital myasthenic syndrome 2A" +BMGC_DS15930,BMG_DS060255,"OMIM ID:616311 | MONDO:0014580 | UMLS ID:C4225375 | intellectual disability, autosomal dominant 33" +BMGC_DS15931,BMG_DS060256,UMLS ID:C4225376 | Senior-Loken syndrome 8 | OMIM ID:608151 | OMIM ID:616307 | SENIOR-LOKEN SYNDROME 8 | MONDO:0014579 +BMGC_DS15932,BMG_DS060257,"MYASTHENIC SYNDROME, CONGENITAL, 17 | MONDO:0014578 | OMIM ID:604270 | UMLS ID:C4225377 | DOID:0110674 | OMIM ID:616304 | congenital myasthenic syndrome 17" +BMGC_DS15933,BMG_DS060258,MONDO:0014577 | UMLS ID:C4225378 | SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY | short-rib thoracic dysplasia 13 with or without polydactyly | OMIM ID:613446 | OMIM ID:616300 +BMGC_DS15934,BMG_DS060259,MONDO:0014576 | lipoyl transferase 1 deficiency | OMIM ID:610284 | LIPOYLTRANSFERASE 1 DEFICIENCY | UMLS ID:C4225379 | OMIM ID:616299 +BMGC_DS15935,BMG_DS060260,OMIM ID:616298 | OMIM ID:609631 | SINGLETON-MERTEN SYNDROME 2 | MONDO:0014575 | UMLS ID:C4225380 | Singleton-Merten syndrome 2 +BMGC_DS15936,BMG_DS060261,"Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome | PLACK (peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads) syndrome | Peeling skin, leuconychia, acral punctate keratoses, cheilitis, knuckle pads syndrome | DOID:0070526 | Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder) | MONDO:0014574 | OMIM ID:616295 | SNOMEDCT ID:1237509001 | peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | UMLS ID:C4225381 | PLACK syndrome" +BMGC_DS15937,BMG_DS060262,Cole-Carpenter syndrome 2 | UMLS ID:C4225382 | OMIM ID:616294 | COLE-CARPENTER SYNDROME 2 | MONDO:0014573 | OMIM ID:607186 +BMGC_DS15938,BMG_DS060263,"Lichtenstein Knorr syndrome | OMIM ID:616291 | Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome | UMLS ID:C4225383 | SCAR19 - spinocerebellar ataxia, autosomal recessive 19 | Lichtenstein-Knorr syndrome | Progressive autosomal recessive ataxia, deafness syndrome | MONDO:0014572 | Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | SNOMEDCT ID:1237413006" +BMGC_DS15939,BMG_DS060264,MONDO:0014571 | UMLS ID:C4225384 | optic atrophy 9 | DOID:0111442 | OPTIC ATROPHY 9 | OMIM ID:616289 +BMGC_DS15940,BMG_DS060265,MONDO:0014570 | lethal congenital contracture syndrome 8 | UMLS ID:C4225385 | OMIM ID:616287 | LETHAL CONGENITAL CONTRACTURE SYNDROME 8 | OMIM ID:600294 +BMGC_DS15941,BMG_DS060266,MONDO:0014569 | UMLS ID:C4225386 | OMIM ID:602346 | lethal congenital contracture syndrome 7 | LETHAL CONGENITAL CONTRACTURE SYNDROME 7 | 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:616281 | OMIM ID:138210 +BMGC_DS15943,BMG_DS060268,OMIM ID:611220 | UMLS ID:C4225389 | MONDO:0014565 | CATARACT 43 | cataract 43 | OMIM ID:616279 +BMGC_DS15944,BMG_DS060269,UMLS ID:C4225390 | MONDO:0014564 | congenital bile acid synthesis defect 5 | OMIM ID:616278 +BMGC_DS15945,BMG_DS060270,OMIM ID:616277 | mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | DOID:0070540 | MONDO:0014563 | UMLS ID:C4225391 | MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY | OMIM ID:602292 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency +BMGC_DS15946,BMG_DS060271,"SNOMEDCT ID:764860006 | 3-methylglutaconic aciduria, cataract, neurologic involvement, neutropenia syndrome | 3-methylglutaconic aciduria type 7 (disorder) | 3-methylglutaconic aciduria type 7 | UMLS ID:C4225393 | CLBP (ClpB homolog, mitochondrial AAA ATPase chaperonin) deficiency | 3-methylglutaconic aciduria type VII | MGA7 - 3-methylglutaconic aciduria type 7" +BMGC_DS15947,BMG_DS060272,"OMIM ID:601259 | amelogenesis imperfecta type 1F | OMIM ID:616270 | MONDO:0014560 | UMLS ID:C4225394 | AMELOGENESIS IMPERFECTA, TYPE IF" +BMGC_DS15948,BMG_DS060273,"SNOMEDCT ID:1260130005 | progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome | Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome | UMLS ID:C4225395 | Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder) | MONDO:0014559 | OMIM ID:616269" +BMGC_DS15949,BMG_DS060274,"MONDO:0014558 | Arboleda Tham syndrome | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) | UMLS ID:C4225396 | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | SNOMEDCT ID:1255319004 | OMIM ID:616268 | autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" +BMGC_DS15950,BMG_DS060275,OMIM ID:605610 | ataxia - oculomotor apraxia type 4 | MONDO:0014557 | ATAXIA-OCULOMOTOR APRAXIA 4 | DOID:0081383 | UMLS ID:C4225397 | OMIM ID:616267 | ataxia-oculomotor apraxia type 4 +BMGC_DS15951,BMG_DS060276,"UMLS ID:C4225398 | CLIFAHDD syndrome | CLIFAHDD (congenital limbs, face contractures, hypotonia, developmental delay) syndrome | MONDO:0014556 | SNOMEDCT ID:1255322002 | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | OMIM ID:616266 | congenital contractures of the limbs and face, hypotonia, and developmental delay | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome (disorder)" +BMGC_DS15952,BMG_DS060277,OMIM ID:616255 | short stature with nonspecific skeletal abnormalities | SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES | MONDO:0014551 | OMIM ID:108961 | UMLS ID:C4225399 +BMGC_DS15953,BMG_DS060278,Interstitial lung and liver disease | Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency | UMLS ID:C4225400 | SNOMEDCT ID:1228876007 | MONDO:0014206 | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | OMIM ID:615486 | severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Pulmonary alveolar proteinosis Reunion island type | Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) | Hereditary pulmonary alveolar proteinosis with hepatic involvement +BMGC_DS15954,BMG_DS060279,MONDO:0044776 | OMIM ID:608187 | OMIM ID:612885 | premature ovarian failure 10 | primary ovarian insufficiency 10 | PREMATURE OVARIAN FAILURE 10 | DOID:0080867 | UMLS ID:C4225402 +BMGC_DS15955,BMG_DS060280,"OMIM ID:612158 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION | UMLS ID:C4225403" +BMGC_DS15956,BMG_DS060281,"ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE | MONDO:0012274 | UMLS ID:C4225404 | DOID:0081237 | OMIM ID:609441 | acromesomelic dysplasia-3 | acromesomelic dysplasia 3" +BMGC_DS15957,BMG_DS060282,"congenital myasthenic syndrome 1B | UMLS ID:C4225405 | OMIM ID:608930 | DOID:0110662 | MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL | myasthenic syndrome, congenital, 1B, fast-channel | OMIM ID:100690 | MONDO:0012156" +BMGC_DS15958,BMG_DS060283,MONDO:0011937 | OMIM ID:184600 | UMLS ID:C4225407 | OMIM ID:607936 | peeling skin syndrome 4 | PEELING SKIN SYNDROME 4 +BMGC_DS15959,BMG_DS060284,"DOID:0110328 | MONDO:0011843 | UMLS ID:C4225408 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | OMIM ID:607487 | hypertrophic cardiomyopathy 25 | OMIM ID:604488" +BMGC_DS15960,BMG_DS060285,"thyroid cancer, nonmedullary, 3 | MONDO:0011653 | UMLS ID:C4225410 | OMIM ID:606240" +BMGC_DS15961,BMG_DS060286,UMLS ID:C4225411 | DOID:0111894 | OMIM ID:606164 | OMIM ID:603685 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS | MONDO:0011639 +BMGC_DS15962,BMG_DS060287,Spondyloocular syndrome (disorder) | UMLS ID:C4225412 | OMIM ID:605822 | SNOMEDCT ID:715653007 | MONDO:0011604 | spondylo-ocular syndrome | Spondyloocular syndrome | Spondylo-ocular syndrome +BMGC_DS15963,BMG_DS060288,"OMIM ID:605809 | DOID:0110678 | MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL | OMIM ID:100725 | congenital myasthenic syndrome 4A | UMLS ID:C4225413 | MONDO:0011600" +BMGC_DS15964,BMG_DS060289,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24 | OMIM ID:605906 | OMIM ID:601493 | UMLS ID:C4225414" +BMGC_DS15965,BMG_DS060290,"DOID:0111184 | myopathy, lactic acidosis, and sideroblastic anemia 3 | MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 | UMLS ID:C4225415 | MONDO:0010782 | OMIM ID:500011" +BMGC_DS15966,BMG_DS060291,"UMLS ID:C4225416 | female-restricted syndromic X-linked intellectual disability 99 | DOID:0112025 | OMIM ID:300968 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | intellectual disability, X-linked 99, syndromic, female-restricted | OMIM ID:300072 | MONDO:0010502" +BMGC_DS15967,BMG_DS060292,OMIM ID:300967 | MONDO:0010501 | syndromic X-linked intellectual disability 34 | UMLS ID:C4225417 +BMGC_DS15968,BMG_DS060293,"intellectual disability, X-linked, syndromic 33 | OMIM ID:300966 | OMIM ID:313650 | MONDO:0010500 | UMLS ID:C4225418 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33" +BMGC_DS15969,BMG_DS060294,UMLS ID:C4225419 | Ritscher-Schinzel syndrome 2 | OMIM ID:300963 | OMIM ID:300859 | RITSCHER-SCHINZEL SYNDROME 2 | DOID:0060572 | MONDO:0010499 +BMGC_DS15970,BMG_DS060295,"OMIM ID:300953 | trichothiodystrophy 5, nonphotosensitive | TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE | MONDO:0010495 | OMIM ID:300951 | UMLS ID:C4225420" +BMGC_DS15971,BMG_DS060296,OMIM ID:300403 | linear skin defects with multiple congenital anomalies 3 | DOID:0111876 | OMIM ID:300952 | LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 | MONDO:0010494 | UMLS ID:C4225421 +BMGC_DS15972,BMG_DS060297,DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS | OMIM ID:300946 | UMLS ID:C4225422 | MONDO:0010493 | DOID:0111897 | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis +BMGC_DS15973,BMG_DS060298,"MONDO:0010414 | DOID:0080090 | UMLS ID:C4225423 | OMIM ID:300717 | reducing body myopathy 1A | myopathy, reducing body, X-linked, early-onset, severe | REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET" +BMGC_DS15974,BMG_DS060299,"SNOMEDCT ID:1197357008 | MONDO:0008927 | UMLS ID:C4225424 | colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | OMIM ID:212550 | Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder)" +BMGC_DS15975,BMG_DS060300,"sideroblastic anemia 2 | autosomal recessive pyridoxine-refractory sideroblastic anemia 2 | ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY | MONDO:0008785 | DOID:0060065 | OMIM ID:610819 | OMIM ID:205950 | UMLS ID:C4225425" +BMGC_DS15976,BMG_DS060301,"OMIM ID:188470 | MONDO:0008566 | UMLS ID:C4225426 | thyroid cancer, nonmedullary, 2" +BMGC_DS15977,BMG_DS060302,SINGLETON-MERTEN SYNDROME 1 | OMIM ID:606951 | Singleton-Merten syndrome 1 | MONDO:0024535 | OMIM ID:182250 | UMLS ID:C4225427 +BMGC_DS15978,BMG_DS060303,"DOID:0060335 | UMLS ID:C4225428 | MONDO:0008422 | OMIM ID:182170 | autosomal dominant sideroblastic anemia 4 | OMIM ID:600548 | ANEMIA, SIDEROBLASTIC, 4 | autosomal dominant sideroblastic anemia" +BMGC_DS15979,BMG_DS060304,"Classical Ehlers-Danlos syndrome | Ehlers-Danlos syndrome classic type | Ehlers-Danlos syndrome, classic type | SNOMEDCT ID:715318006 | Ehlers-Danlos syndrome classical type | UMLS ID:C4225429 | MONDO:0007522 | Ehlers-Danlos syndrome classic type (disorder)" +BMGC_DS15980,BMG_DS060305,UMLS ID:C4225431 | DOID:0081126 | OMIM ID:616708 | CHROMOSOME 10p12-p11 DELETION SYNDROME | DeSanto-Shinawi syndrome +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,autosomal dominant intellectual developmental disorder 39 | UMLS ID:C4225433 | DOID:0070069 | CHROMOSOME 2p25.3 DELETION SYNDROME | OMIM ID:616521 +BMGC_DS15983,BMG_DS060308,"neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | DOID:0070050 | OMIM ID:613443 | UMLS ID:C4225434 | CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL" +BMGC_DS15984,BMG_DS060309,"OMIM ID:610125 | UMLS ID:C4225436 | RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION" +BMGC_DS15985,BMG_DS060310,"EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY | OMIM ID:607459 | UMLS ID:C4225440" +BMGC_DS15986,BMG_DS060311,"dysplasminogenemia | UMLS ID:C4225445 | MONDO:0100538 | PLASMINOGEN DEFICIENCY, TYPE II | OMIM ID:217090" +BMGC_DS15987,BMG_DS060312,UMLS ID:C4225449 | 14q32 duplication syndrome (disorder) | Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication | SNOMEDCT ID:1234830005 | OMIM ID:616604 | Trisomy 14q32 | MONDO:0014707 | 14q32 duplication syndrome +BMGC_DS15988,BMG_DS060313,OMIM ID:156600 | CHROMOSOME 13q32 DELETION SYNDROME | UMLS ID:C4225452 +BMGC_DS15989,BMG_DS060314,"UMLS ID:C4225479 | OMIM ID:613656 | migraine, with or without aura, susceptibility to, 13 | MONDO:0013344" +BMGC_DS15990,BMG_DS060315,familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome | MONDO:0014747 | UMLS ID:C4225493 | OMIM ID:610942 | OMIM ID:616722 | RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CATARACT +BMGC_DS15991,BMG_DS060317,"UMLS ID:C4225499 | MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | OMIM ID:610436" +BMGC_DS15992,BMG_DS060318,UMLS ID:C4225503 | SPERMATOGENIC FAILURE 6 | OMIM ID:102530 | OMIM ID:609856 +BMGC_DS15993,BMG_DS060320,UMLS ID:C4225516 | IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH CARDIAC DEFECTS | OMIM ID:608771 +BMGC_DS15994,BMG_DS060331,"OMIM ID:301300 | UMLS ID:C4225593 | ANEMIA, SIDEROBLASTIC, 1, LATE-ONSET" +BMGC_DS15995,BMG_DS060339,MONDO:0012830 | chromosome 10q23 deletion syndrome | UMLS ID:C4225669 | CHROMOSOME 10q22.3-q23.2 DELETION SYNDROME | OMIM ID:612242 +BMGC_DS15996,BMG_DS060341,OMIM ID:192350 | UMLS ID:C4225671 | MONDO:0008642 | VACTERL/vater association +BMGC_DS15997,BMG_DS060394,SNOMEDCT ID:716196007 | UMLS ID:C4255088 | Isolated polycystic liver disease (disorder) | Isolated polycystic liver disease +BMGC_DS15998,BMG_DS060396,Bilateral Vestibulopathy | UMLS ID:C4255193 | MeSH ID:D000071699 +BMGC_DS15999,BMG_DS060614,Indeterminate colitis | ICD10 ID:K52.3 | Colonic inflammatory bowel disease unclassified (IBDU) | UMLS ID:C4268603 | ICD11 ID:DD72 +BMGC_DS16000,BMG_DS060659,UMLS ID:C4268664 | ICD10 ID:K90.0 | Celiac disease with steatorrhea | Coeliac disease | ICD11 ID:DA95 +BMGC_DS16001,BMG_DS060756,MONDO:0019026 | autosomal recessive osteopetrosis | UMLS ID:C4272578 +BMGC_DS16002,BMG_DS060760,Branchiootic syndrome | Branchio-otic syndrome | SNOMEDCT ID:764810000 | UMLS ID:C4273131 | Branchiootic syndrome (disorder) | MeSH ID:C537104 | DOID:0060232 | MONDO:0018878 | branchiootic syndrome +BMGC_DS16003,BMG_DS060773,"UMLS ID:C4273657 | SNOMEDCT ID:718227006 | Proximal 16p11.2 microdeletion syndrome (disorder) | Proximal 16p11.2 microdeletion syndrome | DOID:0070515 | chromosome 16p11.2 deletion syndrome, 593-kb" +BMGC_DS16004,BMG_DS060776,SNOMEDCT ID:718212006 | TMEM70 related mitochondrial encephalo-cardio-myopathy | Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | UMLS ID:C4273660 | Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation | DOID:0060331 +BMGC_DS16005,BMG_DS060779,SNOMEDCT ID:718194004 | hypothyroidism due to deficient transcription factors involved in pituitary development or function | MONDO:0016411 | Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) | UMLS ID:C4273672 | Hypothyroidism due to mutation in transcription factor of pituitary development +BMGC_DS16006,BMG_DS060785,SNOMEDCT ID:718141008 | Genetic steroid-resistant nephrotic syndrome (disorder) | UMLS ID:C4273714 | Familial idiopathic steroid-resistant nephrotic syndrome | Hereditary steroid-resistant nephrotic syndrome | MONDO:0019006 | Genetic steroid-resistant nephrotic syndrome | familial idiopathic steroid-resistant nephrotic syndrome +BMGC_DS16007,BMG_DS060786,"fatal infantile encephalocardiomyopathy | Fatal infantile cytochrome C oxidase deficiency (disorder) | MONDO:0015487 | DOID:0050713 | UMLS ID:C4273730 | Fatal infantile cytochrome C oxidase deficiency | COX deficiency, infantile mitochondrial myopathy | SNOMEDCT ID:718124006" +BMGC_DS16008,BMG_DS060787,"Multiple pituitary hormone deficiency genetic form | Combined pituitary hormone deficiency genetic form | UMLS ID:C4273747 | Combined pituitary hormone deficiency genetic form (disorder) | SNOMEDCT ID:718182008 | Familial congenital hypopituitarism | combined pituitary hormone deficiencies, genetic form | MONDO:0013099" +BMGC_DS16009,BMG_DS060788,Familial thyroid dyshormonogenesis (disorder) | familial thyroid dyshormonogenesis | MONDO:0010132 | UMLS ID:C4273748 | Familial thyroid dyshormonogenesis | SNOMEDCT ID:718183003 +BMGC_DS16010,BMG_DS060794,Foetal iodine syndrome | MONDO:0009224 | SNOMEDCT ID:718228001 | Fetal iodine syndrome | fetal iodine syndrome | OMIM ID:228355 | Fetal iodine syndrome (disorder) | UMLS ID:C4273860 +BMGC_DS16011,BMG_DS060796,MONDO:0018205 | SNOMEDCT ID:717633007 | Distal monosomy 1q syndrome | Distal monosomy 1q syndrome (disorder) | Monosomy 1qter | Telomeric deletion 1q | Distal deletion 1q | Distal monosomy 1q | UMLS ID:C4273897 | distal monosomy 1q +BMGC_DS16012,BMG_DS060798,SNOMEDCT ID:717407006 | UMLS ID:C4273899 | Congenital plasminogen activator inhibitor deficiency type 1 | Congenital plasminogen activator inhibitor deficiency type 1 (disorder) +BMGC_DS16013,BMG_DS060803,UMLS ID:C4273958 | Obesity due to melanocortin 4 receptor deficiency (disorder) | MONDO:0019115 | obesity due to melanocortin 4 receptor deficiency | Obesity due to melanocortin 4 receptor deficiency | SNOMEDCT ID:717269008 +BMGC_DS16014,BMG_DS060812,SNOMEDCT ID:717254007 | Familial pseudohyperkalemia | UMLS ID:C4273970 | Familial pseudohyperkalemia (disorder) | Familial pseudohyperkalaemia +BMGC_DS16015,BMG_DS060816,"mal de Meleda | DOID:0060862 | hereditary palmoplantar keratoderma, Gamborg-Nielsen type | MONDO:0009489 | OMIM ID:244850 | SNOMEDCT ID:717228004 | Hereditary palmoplantar keratoderma Gamborg Nielsen type | Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) | UMLS ID:C4273986" +BMGC_DS16016,BMG_DS060817,SNOMEDCT ID:717225001 | Benign adult familial myoclonic epilepsy | Benign adult familial myoclonus epilepsy | BAFME - Benign adult familial myoclonic epilepsy | UMLS ID:C4273988 | MONDO:0019448 | familial adult myoclonic epilepsy | Autosomal dominant cortical myoclonus and epilepsy | benign adult familial myoclonic epilepsy | DOID:0111689 | Benign adult familial myoclonic epilepsy (disorder) +BMGC_DS16017,BMG_DS060820,MONDO:0019394 | Boichis disease | UMLS ID:C4274018 | Nephronophthisis hepatic fibrosis syndrome (disorder) | Boichis syndrome | Senior-Boichis syndrome | Nephronophthisis hepatic fibrosis syndrome | SNOMEDCT ID:717187000 +BMGC_DS16018,BMG_DS060821,UMLS ID:C4274019 | Hyperinsulinism due to deficiency of glucokinase | Hyperinsulinism due to deficiency of glucokinase (disorder) | Hyperinsulinism due to glucokinase deficiency | SNOMEDCT ID:717182006 +BMGC_DS16019,BMG_DS060824,SNOMEDCT ID:717053007 | Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | MONDO:0016811 | renal tubulopathy-encephalopathy-liver failure syndrome | UMLS ID:C4274075 | Renal tubulopathy with encephalopathy and liver failure syndrome +BMGC_DS16020,BMG_DS060825,Autosomal recessive sideroblastic anemia (disorder) | Autosomal recessive sideroblastic anemia | SNOMEDCT ID:717050005 | UMLS ID:C4274077 | MONDO:0016828 | Autosomal recessive sideroblastic anaemia | autosomal recessive sideroblastic anemia +BMGC_DS16021,BMG_DS060826,hyperinsulinism due to HNF4A deficiency | Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency | UMLS ID:C4274078 | Hyperinsulinism due to HNF4A deficiency | SNOMEDCT ID:717048002 | MONDO:0016988 | Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) +BMGC_DS16022,BMG_DS060828,SNOMEDCT ID:717046003 | MONDO:0017184 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency | UMLS ID:C4274080 | autosomal dominant hyperinsulinism due to SUR1 deficiency +BMGC_DS16023,BMG_DS060829,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) | autosomal dominant hyperinsulinism due to Kir6.2 deficiency | UMLS ID:C4274081 | SNOMEDCT ID:717045004 | MONDO:0017185 +BMGC_DS16024,BMG_DS060832,Pelizaeus-Merzbacher-like disease | Pelizaeus Merzbacher like disease (disorder) | PMLD - Pelizaeus Merzbacher like disease | SNOMEDCT ID:717042001 | Pelizaeus Merzbacher like disease | UMLS ID:C4274084 | MONDO:0017226 +BMGC_DS16025,BMG_DS060833,Syndromic recessive X-linked ichthyosis | Syndromic recessive X-linked ichthyosis (disorder) | Syndromic X-linked ichthyosis | MONDO:0017264 | SNOMEDCT ID:717041008 | UMLS ID:C4274085 | syndromic recessive X-linked ichthyosis +BMGC_DS16026,BMG_DS060834,UMLS ID:C4274117 | Joubert syndrome with renal defect (disorder) | SNOMEDCT ID:716999001 | Joubert syndrome with renal defect +BMGC_DS16027,BMG_DS060835,MONDO:0016364 | Joubert syndrome with ocular defect | Joubert syndrome with retinopathy | UMLS ID:C4274118 | Joubert syndrome with ocular defect (disorder) | SNOMEDCT ID:716998009 +BMGC_DS16028,BMG_DS060843,Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency | SNOMEDCT ID:716871006 | UMLS ID:C4274221 | Severe combined immunodeficiency due to DNA-PKcs deficiency | Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) +BMGC_DS16029,BMG_DS060847,nanophthalmia | UMLS ID:C4274282 | MONDO:0005514 +BMGC_DS16030,BMG_DS060853,UMLS ID:C4274304 | Congenital alpha2-antiplasmin deficiency | SNOMEDCT ID:716746003 | Congenital alpha-2-antiplasmin deficiency | Congenital alpha-2-antiplasmin deficiency (disorder) +BMGC_DS16031,BMG_DS060855,UMLS ID:C4274306 | Familial non-immune hyperthyroidism | Familial non-autoimmune autosomal dominant hyperthyroidism | SNOMEDCT ID:716743006 | Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder) | Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor +BMGC_DS16032,BMG_DS060858,MONDO:0020504 | hereditary recurrent myoglobinuria | UMLS ID:C4274324 +BMGC_DS16033,BMG_DS060861,SNOMEDCT ID:716708005 | MONDO:0015084 | UMLS ID:C4274329 | FRAXF syndrome | FRAXF syndrome (disorder) +BMGC_DS16034,BMG_DS060863,Hereditary pheochromocytoma and paraganglioma | Hereditary pheochromocytoma and paraganglioma (disorder) | SNOMEDCT ID:716857003 | UMLS ID:C4274332 | Hereditary phaeochromocytoma and paraganglioma +BMGC_DS16035,BMG_DS060865,SNOMEDCT ID:716698007 | Congenital deficiency of alpha-fetoprotein (disorder) | Congenital deficiency of alpha-fetoprotein | UMLS ID:C4274336 +BMGC_DS16036,BMG_DS060872,UMLS ID:C4274355 | Autosomal dominant late onset Parkinson disease (disorder) | SNOMEDCT ID:716662004 | Hereditary late onset Parkinson disease | Autosomal dominant late onset Parkinson disease +BMGC_DS16037,BMG_DS060910,UMLS ID:C4274761 | MONDO:0015826 | Autosomal dominant spondylocostal dysplasia | autosomal dominant spondylocostal dysostosis | Autosomal dominant spondylocostal dysostosis (disorder) | SNOMEDCT ID:716232002 | Autosomal dominant spondylocostal dysostosis +BMGC_DS16038,BMG_DS060918,Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) | Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency | UMLS ID:C4274793 | SNOMEDCT ID:716869006 | Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency +BMGC_DS16039,BMG_DS060920,Morse Rawnsley Sargent syndrome | SNOMEDCT ID:716169009 | Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome | Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | UMLS ID:C4274798 +BMGC_DS16040,BMG_DS060928,Non-epidermolytic palmoplantar keratoderma | Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type | SNOMEDCT ID:716105001 | UMLS ID:C4274840 | Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) +BMGC_DS16041,BMG_DS060935,Gingival fibromatosis and hypertrichosis syndrome | Gingival fibromatosis and hypertrichosis syndrome (disorder) | SNOMEDCT ID:716008002 | UMLS ID:C4274889 | Hirsutism congenital gingival hyperplasia syndrome +BMGC_DS16042,BMG_DS060943,UMLS ID:C4274968 | familial isolated arrhythmogenic right ventricular dysplasia | Familial isolated arrhythmogenic right ventricular dysplasia (disorder) | Familial isolated arrhythmogenic right ventricular cardiomyopathy | Familial isolated arrhythmogenic right ventricular dysplasia | SNOMEDCT ID:715865008 | MONDO:0016342 | Familial isolated ARVD (arrhythmogenic right ventricular dysplasia) +BMGC_DS16043,BMG_DS060955,Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) | MONDO:0019450 | SNOMEDCT ID:715817007 | Lissencephaly with cerebellar hypoplasia | UMLS ID:C4274995 | lissencephaly with cerebellar hypoplasia | Lissencephaly co-occurrent with congenital cerebellar hypoplasia +BMGC_DS16044,BMG_DS060957,acetazolamide-responsive myotonia | UMLS ID:C4275008 | Acetazolamide responsive myotonia | MONDO:0020483 | Acetazolamide responsive myotonia (disorder) | SNOMEDCT ID:715793003 +BMGC_DS16045,BMG_DS060958,SNOMEDCT ID:715780008 | UMLS ID:C4275012 | Lissencephaly type 1 due to doublecortin gene mutation | X-linked lissencephaly type 1 | Lissencephaly type 1 due to doublecortin gene mutation (disorder) +BMGC_DS16046,BMG_DS060962,UMLS ID:C4275029 | OMIM ID:617352 | Mulchandani-Bhoj-Conlin syndrome | DOID:0111714 | MONDO:0019917 | maternal uniparental disomy of chromosome 20 +BMGC_DS16047,BMG_DS060963,Intestinal epithelial dysplasia | SNOMEDCT ID:715669000 | UMLS ID:C4275062 | Congenital epithelial dysplasia of intestine (disorder) | Congenital epithelial dysplasia of intestine | Tufting enteropathy | Congenital tufting enteropathy +BMGC_DS16048,BMG_DS060964,UMLS ID:C4275063 | SNOMEDCT ID:715670004 | Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis | Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation +BMGC_DS16049,BMG_DS060967,SNOMEDCT ID:715657008 | MONDO:0012126 | Familial avascular necrosis of head of femur (disorder) | Familial avascular necrosis of femoral head | Familial avascular necrosis of head of femur | familial avascular necrosis of femoral head | UMLS ID:C4275066 +BMGC_DS16050,BMG_DS060968,SNOMEDCT ID:715655000 | Transthyretin related familial amyloid cardiomyopathy | UMLS ID:C4275067 | Transthyretin amyloid cardiopathy | Transthyretin related familial amyloid cardiomyopathy (disorder) | ATTRV122I amyloidosis | MONDO:0019441 +BMGC_DS16051,BMG_DS060970,Desmin related myopathy with Mallory body-like inclusions (disorder) | Early onset desmin related myopathy | desmin-related myopathy with Mallory body-like inclusions | Desmin related myopathy with Mallory body-like inclusions | UMLS ID:C4275073 | MONDO:0019398 | SNOMEDCT ID:715646003 +BMGC_DS16052,BMG_DS060971,Atypical Werner syndrome (disorder) | SNOMEDCT ID:715633008 | MONDO:0019321 | Atypical Werner syndrome | UMLS ID:C4275075 | atypical Werner syndrome | Atypical progeroid syndrome +BMGC_DS16053,BMG_DS060984,Infection of skin of eyelid and periocular region (disorder) | Infection of skin of eyelid and periocular region | UMLS ID:C4275160 | SNOMEDCT ID:715266002 +BMGC_DS16054,BMG_DS060986,familial abdominal aortic aneurysm | Familial abdominal aortic aneurysm | MONDO:0007031 | Familial abdominal aortic aneurysm (disorder) | SNOMEDCT ID:715364001 | UMLS ID:C4275172 +BMGC_DS16055,BMG_DS060987,Early onset Parkinson disease | young-onset Parkinson disease | Young onset Parkinson disease (disorder) | Early onset Parkinson's disease | MONDO:0017279 | Young onset Parkinson's disease | UMLS ID:C4275179 | SNOMEDCT ID:715345007 | Young onset Parkinson disease +BMGC_DS16056,BMG_DS060989,SNOMEDCT ID:715338007 | Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria | Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) | UMLS ID:C4275183 | Fatal infantile lactic acidosis with methylmalonic aciduria +BMGC_DS16057,BMG_DS060990,UMLS ID:C4275241 | OMIM ID:312550 | SNOMEDCT ID:715240000 | X-linked retinal dysplasia | MONDO:0010722 | X-linked retinal dysplasia (disorder) +BMGC_DS16058,BMG_DS060994,Familial spontaneous pneumothorax (disorder) | Familial spontaneous pneumothorax | SNOMEDCT ID:715219001 | UMLS ID:C4275252 +BMGC_DS16059,BMG_DS061002,UMLS ID:C4277682 | Chemical and Drug Induced Liver Injury | MeSH ID:D056486 +BMGC_DS16060,BMG_DS061003,MONDO:0005308 | ciliopathy | UMLS ID:C4277690 +BMGC_DS16061,BMG_DS061005,MeSH ID:D056486 | Chemical and Drug Induced Liver Injury | Chemically-Induced Liver Toxicity | UMLS ID:C4279912 +BMGC_DS16062,BMG_DS061162,frontometaphyseal dysplasia 1 | UMLS ID:C4281559 | OMIM ID:305620 | MONDO:0024550 +BMGC_DS16063,BMG_DS061164,"UMLS ID:C4281785 | absence epilepsy | DOID:0070309 | MONDO:0010826 | Epilepsy, Absence | Childhood Absence Epilepsy | childhood absence epilepsy | MeSH ID:D004832" +BMGC_DS16064,BMG_DS061167,OMIM ID:607411 | UMLS ID:C4282128 | MONDO:0024560 | PDA1 +BMGC_DS16065,BMG_DS061168,Alzheimer disease 9 | OMIM ID:608907 | UMLS ID:C4282179 | MONDO:0012153 +BMGC_DS16066,BMG_DS061169,"Mucolipidosis type I | OMIM ID:256550 | Mucolipidosis, type I | Sialidase deficiency | OMIM ID:256150 | Sialidosis (disorder) | UMLS ID:C4282398 | MONDO:0009738 | sialidosis type 2 | Mucolipidosis I | Sialidosis | Neuraminidase deficiency | Neuroaminidase deficiency | MeSH ID:C537366 | SNOMEDCT ID:38795005" +BMGC_DS16067,BMG_DS061170,"UMLS ID:C4282400 | OMIM ID:174200 | polydactyly, postaxial, type A1 | MONDO:0008266" +BMGC_DS16068,BMG_DS061171,Methacrylic aciduria | Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | SNOMEDCT ID:722488009 | Valine metabolic defect | Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency | UMLS ID:C4283745 | HIBCH-gene related deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase +BMGC_DS16069,BMG_DS061174,"autosomal dominant nonsyndromic hearing loss 66 | OMIM ID:603356 | MONDO:0014854 | DEAFNESS, AUTOSOMAL DOMINANT 66 | UMLS ID:C4283893 | OMIM ID:616969" +BMGC_DS16070,BMG_DS061175,"OMIM ID:300978 | OMIM ID:300379 | Tonne-Kalscheuer syndrome | DOID:0112042 | UMLS ID:C4283894 | intellectual disability, X-linked 61 | TONNE-KALSCHEUER SYNDROME | MONDO:0010506" +BMGC_DS16071,BMG_DS061177,OMIM ID:617053 | MIRAGE SYNDROME | MIRAGE syndrome | MONDO:0014888 | OMIM ID:610456 | UMLS ID:C4284088 +BMGC_DS16072,BMG_DS061178,"OMIM ID:179617 | Fanconi anemia complementation group R | DOID:0111090 | UMLS ID:C4284093 | MONDO:0014986 | FANCONI ANEMIA, COMPLEMENTATION GROUP R | OMIM ID:617244" +BMGC_DS16073,BMG_DS061180,"OMIM ID:153455 | AORTIC ANEURYSM, FAMILIAL THORACIC 10 | OMIM ID:617168 | MONDO:0014950 | aortic aneurysm, familial thoracic 10 | UMLS ID:C4284414" +BMGC_DS16074,BMG_DS061181,"OMIM ID:611604 | UMLS ID:C4284588 | OMIM ID:615681 | MONDO:0014302 | SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 62" +BMGC_DS16075,BMG_DS061182,"MONDO:0015007 | UMLS ID:C4284592 | OMIM ID:615759 | OMIM ID:617296 | spastic paraplegia, intellectual disability, nystagmus, and obesity | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY" +BMGC_DS16076,BMG_DS061183,band heterotopia of brain | OMIM ID:602033 | OMIM ID:600348 | MONDO:0010873 | BAND HETEROTOPIA | UMLS ID:C4284594 +BMGC_DS16077,BMG_DS061184,OMIM ID:617035 | UMLS ID:C4284595 | patent ductus arteriosus 2 | PATENT DUCTUS ARTERIOSUS 2 | OMIM ID:601601 | MONDO:0014878 +BMGC_DS16078,BMG_DS061185,"UMLS ID:C4284790 | OMIM ID:236670 | MONDO:0009364 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1" +BMGC_DS16079,BMG_DS061186,METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA | UMLS ID:C4285231 | OMIM ID:613218 | MONDO:0009605 | DOID:0112316 | OMIM ID:250790 | methemoglobinemia type 4 | methemoglobinemia and ambiguous genitalia +BMGC_DS16080,BMG_DS061188,MONDO:0850092 | UMLS ID:C4285706 | MeSH ID:D000080942 | DOID:0070306 | Post-Cardiac Arrest Syndrome | post-cardiac arrest syndrome +BMGC_DS16081,BMG_DS061194,DOID:7408 | UMLS ID:C4288007 | vulvar keratoacanthoma +BMGC_DS16082,BMG_DS061202,DOID:5169 | MONDO:0003312 | ovarian endometrioid stromal sarcoma | UMLS ID:C4288544 | ovarian endometrioid stromal and related neoplasms +BMGC_DS16083,BMG_DS061205,RELA fusion-positive ependymoma | UMLS ID:C4289581 | MONDO:0033980 +BMGC_DS16084,BMG_DS061206,UMLS ID:C4289585 | MONDO:0003314 | DOID:5171 | endometrioid stromal and related neoplasms of the vagina | vaginal endometrial stromal tumor +BMGC_DS16085,BMG_DS061207,DOID:4521 | UMLS ID:C4289586 | endometrioid stromal and related neoplasms of the cervix | MONDO:0003031 | cervix endometrial stromal tumor +BMGC_DS16086,BMG_DS061211,villoglandular variant cervical mucinous adenocarcinoma | UMLS ID:C4289808 | MONDO:0006141 | DOID:8338 | cervical villoglandular adenocarcinoma +BMGC_DS16087,BMG_DS061216,deficiency of adenosine deaminase 2 | UMLS ID:C4289994 | MONDO:0100317 +BMGC_DS16088,BMG_DS061217,acute flaccid myelitis | UMLS ID:C4290000 | DOID:0080947 | MeSH ID:C000629404 | MONDO:0100115 +BMGC_DS16089,BMG_DS061223,UMLS ID:C4290047 | diseases of the central nervous system caused by prions | ICD10 ID:A81 +BMGC_DS16090,BMG_DS061237,UMLS ID:C4290087 | megaloblastic anemia unresponsive to vitamin B12 or folate therapy | ICD10 ID:D53 +BMGC_DS16091,BMG_DS061239,type 1 diabetes mellitus 12 | type 1 diabetes mellitus 19 | 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 | type 1 diabetes mellitus 22 | type 1 diabetes mellitus 2 | diabetes (mellitus) due to autoimmune process | type 1 diabetes mellitus 5 | ICD10 ID:E10 | 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 18 | UMLS ID:C4290090 | type 1 diabetes mellitus 3 | type 1 diabetes mellitus 21 | type 1 diabetes mellitus 15 | type 1 diabetes mellitus 4 | type 1 diabetes mellitus 7 +BMGC_DS16092,BMG_DS061240,type 1 diabetes mellitus 12 | type 1 diabetes mellitus 19 | 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 | type 1 diabetes mellitus 22 | type 1 diabetes mellitus 2 | ICD10 ID:E10 | 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 18 | UMLS ID:C4290091 | type 1 diabetes mellitus 3 | type 1 diabetes mellitus 21 | diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction | type 1 diabetes mellitus 15 | type 1 diabetes mellitus 4 | type 1 diabetes mellitus 7 +BMGC_DS16093,BMG_DS061241,type 1 diabetes mellitus 12 | type 1 diabetes mellitus 19 | 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 | type 1 diabetes mellitus 22 | type 1 diabetes mellitus 2 | ICD10 ID:E10 | 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 | idiopathic diabetes (mellitus) | UMLS ID:C4290092 | type 1 diabetes mellitus 23 | type 1 diabetes mellitus 8 | type 1 diabetes mellitus 20 | type 1 diabetes mellitus 11 | type 1 diabetes mellitus 18 | type 1 diabetes mellitus 3 | type 1 diabetes mellitus 21 | type 1 diabetes mellitus 15 | type 1 diabetes mellitus 4 | type 1 diabetes mellitus 7 +BMGC_DS16094,BMG_DS061242,ICD10 ID:E11 | UMLS ID:C4290093 | diabetes (mellitus) due to insulin secretory defect +BMGC_DS16095,BMG_DS061246,UMLS ID:C4290097 | the listed conditions whether the disorder is in the pituitary or the hypothalamus | ICD10 ID:E23 +BMGC_DS16096,BMG_DS061252,Alzheimer's disease 15 | Alzheimer's disease 12 | Alzheimer's disease 2 | Alzheimer's disease 13 | Alzheimer's dementia senile and presenile forms | Alzheimer's disease 6 | Alzheimer's disease 14 | Alzheimer's disease 5 | Alzheimer's disease 7 | DOID:0110035;DOID:0110037;DOID:0110038;DOID:0110047;DOID:0110039;DOID:0110044;DOID:0110048;DOID:0110043;DOID:0110041;DOID:0110046;DOID:0110045 | Alzheimer's disease 10 | ICD10 ID:G30 | UMLS ID:C4290121 | Alzheimer's disease 8 | Alzheimer's disease 11 +BMGC_DS16097,BMG_DS061277,ICD10 ID:I70 | endarteritis deformans or obliterans | UMLS ID:C4290148 +BMGC_DS16098,BMG_DS061339,UMLS ID:C4290219 | Leser-Trélat disease | ICD10 ID:L82 +BMGC_DS16099,BMG_DS061349,ICD10 ID:M50 | cervicothoracic disc disorders with cervicalgia | UMLS ID:C4290229 +BMGC_DS16100,BMG_DS061350,ICD10 ID:M50 | cervicothoracic disc disorders | UMLS ID:C4290230 +BMGC_DS16101,BMG_DS061370,hyperplastic polyposis syndrome | UMLS ID:C4296896 | MONDO:0015524 +BMGC_DS16102,BMG_DS061500,MONDO:0018765 | Cryptogenic multifocal ulcerous stenosing enteritis (disorder) | cryptogenic multifocal ulcerous stenosing enteritis | UMLS ID:C4302263 | Cryptogenic multifocal ulcerous stenosing enteritis | SNOMEDCT ID:722849002 +BMGC_DS16103,BMG_DS061566,X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | MONDO:0019031 | X-linked congenital dyserythropoietic anaemia with thrombocytopenia | thrombocytopenia with congenital dyserythropoietic anemia | UMLS ID:C4302508 | X-linked congenital dyserythropoietic anemia with thrombocytopenia | SNOMEDCT ID:722475006 +BMGC_DS16104,BMG_DS061576,"UMLS ID:C4302529 | Juvenile cataract, microcornea, renal glucosuria syndrome | SNOMEDCT ID:722457005 | Juvenile cataract, microcornea, renal glucosuria syndrome (disorder)" +BMGC_DS16105,BMG_DS061579,"Dystrophic epidermolysis bullosa nails only | UMLS ID:C4302547 | Dystrophic epidermolysis bullosa nails only (disorder) | MONDO:0015553 | Nails only DEB (dystrophic epidermolysis bullosa) | dystrophic epidermolysis bullosa, nails only | SNOMEDCT ID:722436002" +BMGC_DS16106,BMG_DS061580,SNOMEDCT ID:722434004 | Dysspondyloenchondromatosis (disorder) | UMLS ID:C4302548 | MONDO:0019412 | Dysspondyloenchondromatosis | dysspondyloenchondromatosis +BMGC_DS16107,BMG_DS061589,congenital hereditary facial paralysis-variable hearing loss syndrome | MONDO:0017627 | Congenital hereditary facial paralysis with variable hearing loss syndrome | UMLS ID:C4302592 | Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) | SNOMEDCT ID:722389002 | Congenital hereditary facial palsy with variable deafness +BMGC_DS16108,BMG_DS061599,UMLS ID:C4302667 | Charcot-Marie-Tooth disease with nephropathy syndrome | MONDO:0013758 | SNOMEDCT ID:722294004 | Charcot-Marie-Tooth disease dominant intermediate E | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) | OMIM ID:614455 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E +BMGC_DS16109,BMG_DS061600,"UMLS ID:C4302668 | Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome | Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) | SNOMEDCT ID:722293005" +BMGC_DS16110,BMG_DS061601,SNOMEDCT ID:722292000 | Autosomal dominant beta2-microglobulinic amyloidosis (disorder) | Variant ABeta2M amyloidosis | UMLS ID:C4302669 | Autosomal dominant beta2-microglobulinic amyloidosis | MONDO:0017810 | variant ABeta2M amyloidosis +BMGC_DS16111,BMG_DS061602,SNOMEDCT ID:722288007 | Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome | Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | UMLS ID:C4302671 +BMGC_DS16112,BMG_DS061607,"Agnathia, holoprosencephaly, situs inversus syndrome (disorder) | SNOMEDCT ID:722283003 | UMLS ID:C4302678 | Agnathia, holoprosencephaly, situs inversus syndrome" +BMGC_DS16113,BMG_DS061608,"Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome | Graham Cox syndrome | UMLS ID:C4302679 | SNOMEDCT ID:722282008 | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)" +BMGC_DS16114,BMG_DS061620,Mitochondrial encephalomyopathy due to COXPD6 deficiency | Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 | Severe X-linked mitochondrial encephalomyopathy (disorder) | Severe X-linked mitochondrial encephalomyopathy | UMLS ID:C4302745 | SNOMEDCT ID:722212004 +BMGC_DS16115,BMG_DS061622,"SNOMEDCT ID:722202006 | 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 | UMLS ID:C4302748" +BMGC_DS16116,BMG_DS061632,"RNF135 (ring finger protein 135) related overgrowth syndrome | Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) | Ring finger protein 135 related overgrowth syndrome | SNOMEDCT ID:722122000 | Overgrowth, macrocephaly, facial dysmorphism syndrome | UMLS ID:C4302813" +BMGC_DS16117,BMG_DS061635,"Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) | osteosclerosis-developmental delay-craniosynostosis syndrome | MONDO:0015800 | Osteosclerosis, developmental delay, craniosynostosis syndrome | SNOMEDCT ID:722117000 | UMLS ID:C4302818" +BMGC_DS16118,BMG_DS061657,SNOMEDCT ID:722053001 | Obesity due to prohormone convertase I deficiency | UMLS ID:C4302878 | Obesity due to prohormone convertase I deficiency (disorder) +BMGC_DS16119,BMG_DS061667,"Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome | UMLS ID:C4302893 | MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome | megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | MPPH syndrome | MONDO:0019375 | Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | SNOMEDCT ID:722036008" +BMGC_DS16120,BMG_DS061746,Microduplication Xp11.22p11.23 syndrome (disorder) | Trisomy Xp11.22-p11.23 | Microduplication Xp11.22p11.23 syndrome | SNOMEDCT ID:721881008 | UMLS ID:C4303068 +BMGC_DS16121,BMG_DS061747,MONDO:0017900 | Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency | UMLS ID:C4303071 | 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 | Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) +BMGC_DS16122,BMG_DS061751,"Familial juvenile hyperuricemic nephropathy type 2 | SNOMEDCT ID:721840000 | Hyperuricemia, anemia, renal failure syndrome (disorder) | Renin associated familial juvenile hyperuricemic nephropathy | Familial juvenile hyperuricaemic nephropathy type 2 | Renin associated familial juvenile hyperuricaemic nephropathy | UMLS ID:C4303080 | Hyperuricemia, anemia, renal failure syndrome | Hyperuricaemia, anaemia, renal failure syndrome" +BMGC_DS16123,BMG_DS061753,MONDO:0017183 | Hyperinsulinism due to uncoupling protein 2 deficiency | Hyperinsulinism due to UCP2 (uncoupling protein 2) deficiency | SNOMEDCT ID:721834007 | hyperinsulinism due to UCP2 deficiency | Hyperinsulinism due to uncoupling protein 2 deficiency (disorder) | Hyperinsulinism due to UCP2 deficiency | UMLS ID:C4303082 +BMGC_DS16124,BMG_DS061816,Otitis media caused by Streptococcus pneumoniae (disorder) | Otitis media caused by Streptococcus pneumoniae | UMLS ID:C4303152 | SNOMEDCT ID:721742004 | Streptococcus pneumoniae otitis media +BMGC_DS16125,BMG_DS061928,DOID:0070324 | UMLS ID:C4303422 | systemic Epstein-Barr virus positive T-cell lymphoma of childhood +BMGC_DS16126,BMG_DS061970,Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | SNOMEDCT ID:721236002 | UMLS ID:C4303473 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency +BMGC_DS16127,BMG_DS061971,Hyperinsulinism due to INSR (insulin receptor) deficiency | SNOMEDCT ID:721235003 | Hyperinsulinism due to insulin receptor deficiency | UMLS ID:C4303474 | Hyperinsulinism due to insulin receptor deficiency (disorder) +BMGC_DS16128,BMG_DS061972,SNOMEDCT ID:721234004 | MONDO:0017935 | Hyperinsulinism due to HNF1A deficiency | UMLS ID:C4303475 | Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) | hyperinsulinism due to HNF1A deficiency | Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency +BMGC_DS16129,BMG_DS061975,Functional methionine synthase deficiency | homocystinuria without methylmalonic aciduria | Homocystinuria without methylmalonic aciduria | Homocystinuria without methylmalonic aciduria (disorder) | SNOMEDCT ID:721225009 | MONDO:0018964 | UMLS ID:C4303479 +BMGC_DS16130,BMG_DS061977,familial Alzheimer-like prion disease | Familial Alzheimer-like prion disease (disorder) | UMLS ID:C4303482 | SNOMEDCT ID:721219005 | MONDO:0017233 | Familial Alzheimer-like prion disease +BMGC_DS16131,BMG_DS062019,infantile parkinsonism-dystonia 2 | Brain dopamine-serotonin vesicular transport disease | MONDO:0018130 | brain dopamine-serotonin vesicular transport disease | OMIM ID:618049 | DOID:0070490 | Brain dopamine-serotonin vesicular transport disease (disorder) | SNOMEDCT ID:717942003 | UMLS ID:C4303546 +BMGC_DS16132,BMG_DS062023,SNOMEDCT ID:717909004 | Bilateral microtia with deafness and cleft palate syndrome (disorder) | Bilateral microtia with deafness and cleft palate syndrome | UMLS ID:C4303551 +BMGC_DS16133,BMG_DS062024,Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) | UMLS ID:C4303552 | COG4 congenital disorder of glycosylation | COG4-congenital disorder of glycosylation | OMIM ID:613489 | CDG2J - carbohydrate deficient glycoprotein syndrome type 2J | Component of oligomeric golgi complex 4 congenital disorder of glycosylation | COG4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation | SNOMEDCT ID:718751000 | Carbohydrate deficient glycoprotein syndrome type IIj | MONDO:0013281 | Carbohydrate deficient glycoprotein syndrome type 2j +BMGC_DS16134,BMG_DS062029,UMLS ID:C4303568 | Glycogen storage disease type 15 | Glycogenosis with severe cardiomyopathy due to glycogenin deficiency | Glycogen storage disease type XV | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) | SNOMEDCT ID:717821004 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency +BMGC_DS16135,BMG_DS062037,"SNOMEDCT ID:721092005 | Developmental malformation, deafness, dystonia syndrome (disorder) | UMLS ID:C4303590 | Developmental malformation, deafness, dystonia syndrome" +BMGC_DS16136,BMG_DS062039,"SNOMEDCT ID:721088003 | UMLS ID:C4303593 | Developmental delay, epilepsy, neonatal diabetes syndrome | Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) | DEND syndrome | MONDO:0019207 | DEND (developmental delay, epilepsy, neonatal diabetes) syndrome" +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) | SNOMEDCT ID:721074002 +BMGC_DS16138,BMG_DS062043,"UMLS ID:C4303613 | Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | SNOMEDCT ID:721072003 | Short stature, pituitary and cerebellar defect and small sella turcica syndrome" +BMGC_DS16139,BMG_DS062046,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 | UMLS ID:C4303665 | SNOMEDCT ID:721877008 | Mendelian susceptibility to mycobacterial disease due to complete IL12B deficiency +BMGC_DS16140,BMG_DS062051,Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome | ATRUS syndrome | SNOMEDCT ID:721882001 | UMLS ID:C4303670 +BMGC_DS16141,BMG_DS062083,"OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome | MONDO:0010295 | SNOMEDCT ID:720986005 | anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | OMIM ID:300301 | OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema) syndrome | UMLS ID:C4303737" +BMGC_DS16142,BMG_DS062092,Combined oxidative phosphorylation deficiency type 3 | Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) | SNOMEDCT ID:720951008 | UMLS ID:C4303760 +BMGC_DS16143,BMG_DS062093,Familial thrombocytosis | familial thrombocytosis | MONDO:0019111 | Familial thrombocytosis (disorder) | Hereditary thrombocythemia | SNOMEDCT ID:720950009 | Hereditary thrombocythaemia | UMLS ID:C4303761 | Familial thrombocythemia | Familial thrombocythaemia +BMGC_DS16144,BMG_DS062094,Combined prosaposin deficiency | SNOMEDCT ID:720864008 | Encephalopathy due to prosaposin deficiency (disorder) | Encephalopathy due to prosaposin deficiency | Combined saposin deficiency | UMLS ID:C4303785 +BMGC_DS16145,BMG_DS062096,"Ehlers-Danlos syndrome kyphoscoliotic and deafness type | SNOMEDCT ID:720859009 | Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | UMLS ID:C4303788 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness | Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type" +BMGC_DS16146,BMG_DS062097,"UMLS ID:C4303789 | SNOMEDCT ID:720858001 | MONDO:0009159 | Ehlers-Danlos syndrome, cardiac valvular type | Ehlers-Danlos syndrome cardiac valvular type | OMIM ID:225320 | Ehlers-Danlos syndrome cardiac valvular type (disorder)" +BMGC_DS16147,BMG_DS062099,"Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | SNOMEDCT ID:720853005 | Severe combined immunodeficiency due to Cernunnos protein deficiency | NHEJ1 (non-homologous end joining factor) syndrome | Cernunnos-XLF deficiency | UMLS ID:C4303792 | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)" +BMGC_DS16148,BMG_DS062101,Deficiency of cathepsin D | SNOMEDCT ID:720831008 | Deficiency of cathepsin D (disorder) | UMLS ID:C4303804 | Cathepsin D deficiency +BMGC_DS16149,BMG_DS062105,Craniofacial ulnar renal syndrome | UMLS ID:C4303860 | Craniofacial ulnar renal syndrome (disorder) | SNOMEDCT ID:720756005 | MONDO:0017398 | 3MC syndrome +BMGC_DS16150,BMG_DS062128,autosomal dominant macrothrombocytopenia | Autosomal dominant macrothrombocytopenia | MONDO:0015372 | Autosomal dominant macrothrombocytopenia (disorder) | UMLS ID:C4304021 | SNOMEDCT ID:720521008 +BMGC_DS16151,BMG_DS062129,attenuated Chédiak-Higashi syndrome | UMLS ID:C4304022 | Atypical Chédiak-Higashi syndrome | Attenuated Chédiak-Higashi syndrome (disorder) | MONDO:0018133 | SNOMEDCT ID:720520009 | Attenuated Chédiak-Higashi syndrome +BMGC_DS16152,BMG_DS062132,Deafness and myopia syndrome (disorder) | SNOMEDCT ID:720506002 | UMLS ID:C4304026 | Deafness and myopia syndrome | High myopia and sensorineural deafness +BMGC_DS16153,BMG_DS062142,SNOMEDCT ID:720465002 | Adult-onset autosomal recessive sideroblastic anaemia | Adult-onset autosomal recessive sideroblastic anemia | Adult-onset autosomal recessive sideroblastic anemia (disorder) | GLRX5 (glutaredoxin 5) related sideroblastic anemia | UMLS ID:C4304054 | GLRX5 (glutaredoxin 5) related sideroblastic anaemia +BMGC_DS16154,BMG_DS062143,"Adducted thumbs and arthrogryposis syndrome Christian type (disorder) | Adducted thumbs and arthrogryposis syndrome Christian type | OMIM ID:201550 | SNOMEDCT ID:720463009 | adducted thumbs-arthrogryposis syndrome, Christian type | UMLS ID:C4304055 | MONDO:0008724" +BMGC_DS16155,BMG_DS062144,Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) | UMLS ID:C4304057 | SNOMEDCT ID:720461006 | Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein +BMGC_DS16156,BMG_DS062165,Limb girdle muscular dystrophy due to myotilin deficiency | Limb-girdle muscular dystrophy 1A myotilin myopathy | SNOMEDCT ID:719985001 | UMLS ID:C4304304 | Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) | Autosomal dominant limb girdle muscular dystrophy type 1A +BMGC_DS16157,BMG_DS062170,Timothy syndrome type 2 (disorder) | Timothy syndrome type 2 | UMLS ID:C4304347 | SNOMEDCT ID:719907006 | MONDO:0035679 +BMGC_DS16158,BMG_DS062172,UMLS ID:C4304383 | SNOMEDCT ID:719865001 | Influenza caused by pandemic influenza virus | Influenza caused by pandemic influenza virus (disorder) +BMGC_DS16159,BMG_DS062178,OMIM ID:300614 | X-linked hereditary sensory and autonomic neuropathy with deafness | X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | MONDO:0010378 | X-linked auditory neuropathy with peripheral sensory neuropathy type 1 | X-linked hereditary sensory and autonomic neuropathy with hearing loss | SNOMEDCT ID:719838008 | X-linked HSAN (hereditary sensory and autonomic neuropathy) with deafness | UMLS ID:C4304400 +BMGC_DS16160,BMG_DS062183,MONDO:0016354 | Xeroderma pigmentosum and Cockayne syndrome complex (disorder) | SNOMEDCT ID:719819004 | UMLS ID:C4304411 | Xeroderma pigmentosum and Cockayne syndrome complex | xeroderma pigmentosum-Cockayne syndrome complex +BMGC_DS16161,BMG_DS062191,Multiple epiphyseal dysplasia Al-Gazali type (disorder) | UMLS ID:C4304500 | SNOMEDCT ID:719688002 | Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome | Multiple epiphyseal dysplasia Al-Gazali type +BMGC_DS16162,BMG_DS062195,8p11.2 deletion syndrome | SNOMEDCT ID:719646006 | Monosomy 8p11.2 | 8p11.2 deletion syndrome (disorder) | MONDO:0016657 | UMLS ID:C4304505 +BMGC_DS16163,BMG_DS062197,UMLS ID:C4304514 | 6q terminal deletion syndrome | SNOMEDCT ID:719666002 | MONDO:0019164 | 6q terminal deletion syndrome (disorder) +BMGC_DS16164,BMG_DS062198,UMLS ID:C4304526 | 5q35 microduplication syndrome (disorder) | Trisomy 5q35 | SNOMEDCT ID:719665003 | MONDO:0016461 | 5q35 microduplication syndrome +BMGC_DS16165,BMG_DS062201,MONDO:0016456 | Monosomy 5q14.3 | UMLS ID:C4304529 | 5q14.3 microdeletion syndrome | 5q14.3 microdeletion syndrome (disorder) | SNOMEDCT ID:719661007 +BMGC_DS16166,BMG_DS062203,Monosomy 2q32q33 | 2q32q33 microdeletion syndrome (disorder) | SNOMEDCT ID:719659003 | UMLS ID:C4304531 | 2q32q33 microdeletion syndrome +BMGC_DS16167,BMG_DS062204,UMLS ID:C4304532 | SNOMEDCT ID:719657001 | MONDO:0016459 | 2q23.1 microdeletion syndrome | Pseudo-Angelman syndrome | Monosomy 2q23.1 | 2q23.1 microdeletion syndrome (disorder) +BMGC_DS16168,BMG_DS062205,SNOMEDCT ID:719652007 | 2p21 microdeletion syndrome | Monosomy 2p21 | 2p21 microdeletion syndrome (disorder) | MONDO:0015583 | UMLS ID:C4304537 +BMGC_DS16169,BMG_DS062207,UMLS ID:C4304539 | MONDO:0016841 | Monosomy 20p12.3 | 20p12.3 microdeletion syndrome (disorder) | SNOMEDCT ID:719650004 | 20p12.3 microdeletion syndrome +BMGC_DS16170,BMG_DS062208,1q44 microdeletion syndrome (disorder) | 1q44 microdeletion syndrome | Monosomy 1q44 | UMLS ID:C4304540 | MONDO:0016561 | SNOMEDCT ID:719649004 +BMGC_DS16171,BMG_DS062210,MONDO:0017405 | Monosomy 1p21.3 | 1p21.3 microdeletion syndrome | SNOMEDCT ID:719600006 | 1p21.3 microdeletion syndrome (disorder) | UMLS ID:C4304578 +BMGC_DS16172,BMG_DS062212,SNOMEDCT ID:719595002 | Absence of fingerprints with congenital milia syndrome (disorder) | Absence of fingerprints with congenital milia syndrome | UMLS ID:C4304581 | Baird syndrome | Absence of dermatoglyphics with congenital milia syndrome +BMGC_DS16173,BMG_DS062215,17q23.1q23.2 microdeletion syndrome (disorder) | 17q23.1q23.2 microdeletion syndrome | SNOMEDCT ID:719584008 | UMLS ID:C4304591 +BMGC_DS16174,BMG_DS062226,SNOMEDCT ID:719582007 | 17p13.3 microduplication syndrome | 17p13.3 microduplication syndrome (disorder) | Trisomy 17p13.3 | UMLS ID:C4304641 +BMGC_DS16175,BMG_DS062240,UMLS ID:C4304667 | Benign concentric annular macular dystrophy (disorder) | Benign concentric annular macular dystrophy | SNOMEDCT ID:719520001 +BMGC_DS16176,BMG_DS062242,UMLS ID:C4304669 | Palmoplantar keratoderma and congenital alopecia Stevanovic type | autosomal dominant palmoplantar keratoderma and congenital alopecia | MONDO:0007083 | Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | OMIM ID:104100 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | SNOMEDCT ID:719518004 +BMGC_DS16177,BMG_DS062243,SNOMEDCT ID:719516000 | Autosomal dominant focal dystonia DYT25 type | Autosomal dominant focal dystonia DYT25 type (disorder) | dystonia 25 | OMIM ID:615073 | MONDO:0014033 | UMLS ID:C4304670 +BMGC_DS16178,BMG_DS062244,Autosomal dominant Charcot-Marie-Tooth disease type 2M | autosomal dominant Charcot-Marie-Tooth disease type 2M | UMLS ID:C4304672 | SNOMEDCT ID:719514002 | Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) | MONDO:0016431 +BMGC_DS16179,BMG_DS062245,SNOMEDCT ID:719513008 | UMLS ID:C4304673 | Autosomal dominant Charcot-Marie-Tooth disease type 2L | Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder) +BMGC_DS16180,BMG_DS062247,Congenital bile acid synthesis defect type 3 | Oxysterol 7-alpha hydroxylase deficiency | SNOMEDCT ID:719454003 | UMLS ID:C4304715 | Congenital bile acid synthesis defect type 3 (disorder) +BMGC_DS16181,BMG_DS062250,SNOMEDCT ID:719432000 | UMLS ID:C4304724 | MONDO:0019309 | Late-onset junctional epidermolysis bullosa | Late-onset junctional epidermolysis bullosa (disorder) | late-onset junctional epidermolysis bullosa +BMGC_DS16182,BMG_DS062251,Leber plus disease (disorder) | UMLS ID:C4304725 | SNOMEDCT ID:719430008 | MONDO:0020478 | Leber plus disease +BMGC_DS16183,BMG_DS062255,Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) | SNOMEDCT ID:719405005 | Leukoencephalopathy with metaphyseal chondrodysplasia syndrome | Leucoencephalopathy with metaphyseal chondrodysplasia syndrome | UMLS ID:C4304743 +BMGC_DS16184,BMG_DS062266,SNOMEDCT ID:719282008 | Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | UMLS ID:C4304829 | Primary ciliary dyskinesia and retinitis pigmentosa syndrome +BMGC_DS16185,BMG_DS062267,Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome | UMLS ID:C4304831 | Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) | SNOMEDCT ID:719272007 | MONDO:0016424 | Progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome | progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome +BMGC_DS16186,BMG_DS062268,Primary pigmented nodular adrenocortical disease (disorder) | DOID:0060280 | Primary pigmented nodular adrenocortical disease | MONDO:0015999 | UMLS ID:C4304832 | SNOMEDCT ID:719274008 | primary pigmented nodular adrenocortical disease +BMGC_DS16187,BMG_DS062270,Progressive cavitating leukoencephalopathy (disorder) | MONDO:0015349 | Progressive cavitating leucoencephalopathy | UMLS ID:C4304840 | Progressive cavitating leukoencephalopathy | progressive cavitating leukoencephalopathy | SNOMEDCT ID:719267003 +BMGC_DS16188,BMG_DS062272,UMLS ID:C4304887 | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) | SNOMEDCT ID:719205008 +BMGC_DS16189,BMG_DS062277,SNOMEDCT ID:719157002 | UMLS ID:C4304918 | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome | 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 +BMGC_DS16190,BMG_DS062282,X-linked intellectual disability with cerebellar hypoplasia syndrome | SNOMEDCT ID:719136005 | Oligophrenin-1 syndrome | X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) | OPHN1 syndrome | UMLS ID:C4304937 +BMGC_DS16191,BMG_DS062291,"Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus | UMLS ID:C4305002 | SNOMEDCT ID:719043002 | VACTERL syndrome with hydrocephalus | Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-oesophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus | Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder)" +BMGC_DS16192,BMG_DS062292,Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | UMLS ID:C4305003 | Uveal coloboma with cleft lip and palate and intellectual disability syndrome | SNOMEDCT ID:719042007 +BMGC_DS16193,BMG_DS062295,UMLS ID:C4305023 | X-linked intellectual disability Cantagrel type (disorder) | SNOMEDCT ID:719016007 | X-linked intellectual disability Cantagrel type +BMGC_DS16194,BMG_DS062302,"X-linked intellectual disability, van Esch type | SNOMEDCT ID:718914002 | X-linked intellectual disability Van Esch type (disorder) | OMIM ID:301030 | MONDO:0015601 | UMLS ID:C4305072 | X-linked intellectual disability Van Esch type" +BMGC_DS16195,BMG_DS062305,X-linked intellectual disability Stocco Dos Santos type (disorder) | X-linked intellectual disability Stocco Dos Santos type | SNOMEDCT ID:718910006 | UMLS ID:C4305076 +BMGC_DS16196,BMG_DS062307,SNOMEDCT ID:718908009 | X-linked intellectual disability Siderius type (disorder) | UMLS ID:C4305078 | X-linked intellectual disability Siderius type +BMGC_DS16197,BMG_DS062309,SNOMEDCT ID:718900002 | X-linked intellectual disability Shashi type | UMLS ID:C4305085 | Syndromic X-linked intellectual disability type 11 | Syndromic X-linked intellectual disability type 11 (disorder) +BMGC_DS16198,BMG_DS062312,SNOMEDCT ID:718881004 | UMLS ID:C4305103 | Chromosome Xq27.3q28 duplication syndrome (disorder) | Chromosome Xq27.3q28 duplication syndrome +BMGC_DS16199,BMG_DS062314,Cataract glaucoma syndrome (disorder) | MONDO:0015567 | UMLS ID:C4305131 | SNOMEDCT ID:718851007 | cataract-glaucoma syndrome | Cataract glaucoma syndrome +BMGC_DS16200,BMG_DS062316,fried syndrome | Fried syndrome | UMLS ID:C4305134 | MONDO:0019428 | SNOMEDCT ID:718848000 | Fried syndrome (disorder) +BMGC_DS16201,BMG_DS062320,UMLS ID:C4305140 | 12q14 microdeletion syndrome (disorder) | 12q14 microdeletion syndrome | Monosomy 12q14 | SNOMEDCT ID:719046005 | Osteopoikilosis with short stature and intellectual disability syndrome | MONDO:0019784 +BMGC_DS16202,BMG_DS062323,"OMIM ID:618618 | Spondyloepiphyseal dysplasia Nishimura type | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) | SNOMEDCT ID:718766002 | MONDO:0032835 | UMLS ID:C4305147 | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | spondyloepiphyseal dysplasia, nishimura type" +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 | Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder) | UMLS ID:C4305155 | Isolated autosomal dominant hypomagnesaemia Glaudemans type | SNOMEDCT ID:722008003 | MONDO:0016048 | Isolated autosomal dominant hypomagnesemia Glaudemans type" +BMGC_DS16205,BMG_DS062330,15q14 microdeletion syndrome | 15q14 microdeletion syndrome (disorder) | MONDO:0014822 | UMLS ID:C4305230 | OMIM ID:616898 | Monosomy 15q14 | SNOMEDCT ID:719575008 +BMGC_DS16206,BMG_DS062331,14q12 microdeletion syndrome | MONDO:0016833 | UMLS ID:C4305240 | 14q12 microdeletion syndrome (disorder) | SNOMEDCT ID:719574007 | Monosomy 14q12 +BMGC_DS16207,BMG_DS062332,UMLS ID:C4305253 | OMIM ID:616000 | MONDO:0014449 | Congenital analbuminemia (disorder) | Congenital analbuminemia | Congenital analbuminaemia | congenital analbuminemia | SNOMEDCT ID:718721006 +BMGC_DS16208,BMG_DS062335,Primary immunodeficiency syndrome due to p14 deficiency (disorder) | UMLS ID:C4305256 | SNOMEDCT ID:718717004 | Primary immunodeficiency syndrome due to p14 deficiency | Primary immunodeficiency syndrome with short stature +BMGC_DS16209,BMG_DS062338,Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome | UMLS ID:C4305259 | SNOMEDCT ID:718713000 | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) +BMGC_DS16210,BMG_DS062340,Congenital hypothyroidism due to absence of thyroid gland | Congenital hypothyroidism due to absence of thyroid gland (disorder) | SNOMEDCT ID:718690009 | UMLS ID:C4305275 +BMGC_DS16211,BMG_DS062342,SNOMEDCT ID:718687003 | Distal monosomy 10q syndrome | Distal monosomy 10q syndrome (disorder) | Distal monosomy 10q | Distal deletion 10q | UMLS ID:C4305277 +BMGC_DS16212,BMG_DS062345,acral self-healing collodion baby | UMLS ID:C4305324 | MONDO:0017268 +BMGC_DS16213,BMG_DS062348,SNOMEDCT ID:718551002 | UMLS ID:C4305378 | Moyamoya disease with early onset achalasia (disorder) | Moyamoya disease with early onset achalasia +BMGC_DS16214,BMG_DS062352,MeSH ID:D020425 | UMLS ID:C4305399 | Radial Neuropathy | Wartenberg Syndrome +BMGC_DS16215,BMG_DS062410,UMLS ID:C4305538 | MeSH ID:D009404 | Nephrotic Syndrome | Multi-Drug Resistant Nephrotic Syndrome +BMGC_DS16216,BMG_DS062420,"Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) | SNOMEDCT ID:717705004 | OMIM ID:601076 | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | UMLS ID:C4305568 | Mullerian duct aplasia, renal dysplasia, cervical somite anomalies syndrome | Atypical MRKH (Mayer Rokitansky Kuster Hauser) syndrome | MONDO:0010989" +BMGC_DS16217,BMG_DS062428,"Hypercalcemia, Infantile, 1 | MeSH ID:C562999 | UMLS ID:C4310232 | MONDO:0020739 | OMIM ID:143880 | hypercalcemia, infantile, 1" +BMGC_DS16218,BMG_DS062429,"MeSH ID:C562999 | UMLS ID:C4310473 | Hypercalcemia, infantile, 2 | hypercalcemia, infantile, 2 | OMIM ID:616963 | MONDO:0014851" +BMGC_DS16219,BMG_DS062431,"OMIM ID:617099 | 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 | Otulipenia | MONDO:0014912 | SNOMEDCT ID:765435009 | Infantile-onset periodic fever, panniculitis, dermatosis syndrome | OTULIN-related autoinflammatory syndrome | infantile-onset periodic fever-panniculitis-dermatosis syndrome | UMLS ID:C4310614" +BMGC_DS16220,BMG_DS062432,"UMLS ID:C4310616 | OMIM ID:616758 | ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE | ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | ectodermal dysplasia 12 | DOID:0111652 | MONDO:0015024 | OMIM ID:617337" +BMGC_DS16221,BMG_DS062433,UMLS ID:C4310617 | OMIM ID:602410 | MONDO:0015022 | OMIM ID:617333 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS | intellectual developmental disorder with dysmorphic facies and ptosis +BMGC_DS16222,BMG_DS062434,"OMIM ID:607407 | OMIM ID:617330 | hypotonia, ataxia, and delayed development syndrome | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME | DOID:0081176 | UMLS ID:C4310618 | MONDO:0015021" +BMGC_DS16223,BMG_DS062435,"OMIM ID:617323 | UMLS ID:C4310619 | intellectual disability, autosomal recessive 59 | MONDO:0015020" +BMGC_DS16224,BMG_DS062436,MONDO:0015019 | Yao syndrome | NOD2 (nucleotide binding oligomerization domain containing 2) associated autoinflammatory disease | UMLS ID:C4310620 | SNOMEDCT ID:768667002 | Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease | OMIM ID:617321 | MeSH ID:C000730393 | Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (disorder) | NOD2-associated autoinflammatory disease +BMGC_DS16225,BMG_DS062437,"UMLS ID:C4310621 | OMIM ID:605848 | ichthyosis, congenital, autosomal recessive 12 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12 | OMIM ID:617320 | MONDO:0015018" +BMGC_DS16226,BMG_DS062438,OMIM ID:617319 | UMLS ID:C4310622 | MONDO:0015017 | anterior segment dysgenesis 8 +BMGC_DS16227,BMG_DS062439,UMLS ID:C4310623 | DOID:0080611 | MONDO:0015016 | anterior segment dysgenesis 6 | ANTERIOR SEGMENT DYSGENESIS 6 | OMIM ID:617315 | OMIM ID:601771 +BMGC_DS16228,BMG_DS062440,"OMIM ID:601641 | DOID:0111067 | UMLS ID:C4310624 | MONDO:0015015 | OMIM ID:617308 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 | congenital bile acid synthesis defect 6" +BMGC_DS16229,BMG_DS062441,"COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS | coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | OMIM ID:617306 | UMLS ID:C4310625 | OMIM ID:156845 | MONDO:0015014" +BMGC_DS16230,BMG_DS062442,RETINITIS PIGMENTOSA 77 | OMIM ID:617304 | UMLS ID:C4310626 | OMIM ID:609346 | MONDO:0015013 | retinitis pigmentosa 77 +BMGC_DS16231,BMG_DS062443,MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME | mucopolysaccharidosis-plus syndrome | UMLS ID:C4310627 | OMIM ID:610034 | MONDO:0015012 | OMIM ID:617303 +BMGC_DS16232,BMG_DS062444,OPTIC ATROPHY 11 | OMIM ID:617302 | DOID:0111436 | UMLS ID:C4310628 | OMIM ID:607472 | MONDO:0015011 | optic atrophy 11 +BMGC_DS16233,BMG_DS062445,OMIM ID:600011 | MONDO:0015009 | DOID:0081030 | UMLS ID:C4310629 | OMIM ID:617300 | central conducting lymphatic anomaly | LYMPHATIC MALFORMATION 7 | lymphatic malformation 7 +BMGC_DS16234,BMG_DS062446,"amelogenesis imperfecta, type 1J | OMIM ID:617297 | MONDO:0015008 | UMLS ID:C4310630" +BMGC_DS16235,BMG_DS062447,"epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | OMIM ID:617294 | MONDO:0015006 | EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH OR WITHOUT CARDIOMYOPATHY | UMLS ID:C4310631" +BMGC_DS16236,BMG_DS062448,"UMLS ID:C4310632 | MONDO:0015005 | DOID:0080769 | OMIM ID:604436 | OMIM ID:617290 | early-onset vitamin B6-dependent epilepsy 1 | epilepsy, early-onset, vitamin B6-dependent | EPILEPSY, EARLY-ONSET, 1, VITAMIN B6-DEPENDENT" +BMGC_DS16237,BMG_DS062449,"MONDO:0015004 | DOID:0060936 | OMIM ID:617284 | SNOMEDCT ID:1281844004 | KMT2B-related dystonia | Dystonia 28 | DYT28 - dystonia 28 | Lysine methyltransferase 2B-related dystonia | Dystonia 28 (disorder) | dystonia 28, childhood-onset | UMLS ID:C4310633" +BMGC_DS16238,BMG_DS062450,"SNOMEDCT ID:1236805005 | DYT29 - dystonia 29 | Autosomal recessive childhood-onset dystonia DYT29 type | MONDO:0015003 | UMLS ID:C4310634 | MEPAN syndrome | dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | OMIM ID:617282 | Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) | Childhood-onset generalised dystonia, optic atrophy syndrome | Childhood-onset generalized dystonia, optic atrophy syndrome" +BMGC_DS16239,BMG_DS062451,"MONDO:0015002 | developmental and epileptic encephalopathy, 49 | OMIM ID:617278 | developmental and epileptic encephalopathy 49 | DOID:0080441 | OMIM ID:617281 | UMLS ID:C4310635 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49" +BMGC_DS16240,BMG_DS062452,"OMIM ID:617280 | MONDO:0015001 | ATRIAL FIBRILLATION, FAMILIAL, 18 | OMIM ID:160770 | UMLS ID:C4310636 | atrial fibrillation, familial, 18" +BMGC_DS16241,BMG_DS062453,"developmental and epileptic encephalopathy, 48 | OMIM ID:602166 | developmental and epileptic encephalopathy 48 | UMLS ID:C4310637 | OMIM ID:617276 | MONDO:0015000 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 | DOID:0080448" +BMGC_DS16242,BMG_DS062454,"OMIM ID:617275 | tooth agenesis, selective, 9 | MONDO:0014999 | UMLS ID:C4310638" +BMGC_DS16243,BMG_DS062455,"glaucoma 3, primary congenital, E | OMIM ID:617272 | UMLS ID:C4310639 | MONDO:0014998 | GLAUCOMA 3, PRIMARY CONGENITAL, E | OMIM ID:600221" +BMGC_DS16244,BMG_DS062456,MONDO:0014997 | nephronophthisis 20 | UMLS ID:C4310640 | NEPHRONOPHTHISIS 20 | OMIM ID:616786 | DOID:0111127 | OMIM ID:617271 +BMGC_DS16245,BMG_DS062457,"UMLS ID:C4310641 | intellectual disability, autosomal recessive 58 | OMIM ID:617270 | MONDO:0014996" +BMGC_DS16246,BMG_DS062458,"OMIM ID:617245 | MONDO:0014995 | neurodevelopmental disorder with hypotonia, seizures, and absent language | UMLS ID:C4310643 | OMIM ID:617268 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE" +BMGC_DS16247,BMG_DS062459,"UMLS ID:C4310644 | global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES | OMIM ID:617260 | MONDO:0014994" +BMGC_DS16248,BMG_DS062460,"MYOPATHY, MYOFIBRILLAR, 8 | MONDO:0014993 | UMLS ID:C4310645 | OMIM ID:617258 | OMIM ID:617220 | DOID:0080308 | myofibrillar myopathy 8" +BMGC_DS16249,BMG_DS062461,UMLS ID:C4310646 | MONDO:0014992 | lissencephaly 8 | OMIM ID:617255 | LISSENCEPHALY 8 | DOID:0112233 | OMIM ID:617218 +BMGC_DS16250,BMG_DS062462,OMIM ID:617253 | OMIM ID:617246 | SECKEL SYNDROME 10 | Seckel syndrome 10 | MONDO:0014991 | UMLS ID:C4310647 | DOID:0070008 +BMGC_DS16251,BMG_DS062463,OMIM ID:190370 | MONDO:0014990 | OMIM ID:617252 | UNCOMBABLE HAIR SYNDROME 3 | UMLS ID:C4310648 | uncombable hair syndrome 3 +BMGC_DS16252,BMG_DS062464,OMIM ID:600238 | MONDO:0014989 | OMIM ID:617251 | UNCOMBABLE HAIR SYNDROME 2 | uncombable hair syndrome 2 | UMLS ID:C4310649 +BMGC_DS16253,BMG_DS062465,"UMLS ID:C4310650 | DOID:0070000 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII | OMIM ID:617248 | 3-methylglutaconic aciduria type 8 | MONDO:0044723" +BMGC_DS16254,BMG_DS062466,"OMIM ID:600375 | FANCONI ANEMIA, COMPLEMENTATION GROUP U | Fanconi anemia complementation group U | UMLS ID:C4310651 | MONDO:0014987 | OMIM ID:617247 | DOID:0111085" +BMGC_DS16255,BMG_DS062467,"UMLS ID:C4310652 | FANCONI ANEMIA, COMPLEMENTATION GROUP V | OMIM ID:604094 | OMIM ID:617243 | MONDO:0014985 | DOID:0111080 | Fanconi anemia complementation group V" +BMGC_DS16256,BMG_DS062468,"LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME | UMLS ID:C4310653 | OMIM ID:608243 | lung disease, immunodeficiency, and chromosome breakage syndrome; | MONDO:0014984 | OMIM ID:617241" +BMGC_DS16257,BMG_DS062469,"UMLS ID:C4310654 | OMIM ID:600336 | MONDO:0014983 | congenital myasthenic syndrome 21 | DOID:0110672 | MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC | OMIM ID:617239" +BMGC_DS16258,BMG_DS062470,"OMIM ID:617238 | OMIM ID:600608 | myopia 25, autosomal dominant | MYOPIA 25, AUTOSOMAL DOMINANT | MONDO:0014982 | UMLS ID:C4310655" +BMGC_DS16259,BMG_DS062471,OMIM ID:617237 | OMIM ID:606558 | immunodeficiency 49 | MONDO:0014981 | UMLS ID:C4310656 | DOID:0111979 | IMMUNODEFICIENCY 49 +BMGC_DS16260,BMG_DS062472,"UMLS ID:C4310658 | myoclonus, intractable, neonatal | OMIM ID:617235 | OMIM ID:602821 | MONDO:0014979 | MYOCLONUS, INTRACTABLE, NEONATAL" +BMGC_DS16261,BMG_DS062473,UMLS ID:C4310659 | OMIM ID:610363 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16 | OMIM ID:617234 +BMGC_DS16262,BMG_DS062474,Limb girdle muscular dystrophy type 2Z | autosomal recessive limb-girdle muscular dystrophy type 2R1 | MONDO:0014977 | Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 | Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) | Autosomal recessive limb girdle muscular dystrophy type 2Z | SNOMEDCT ID:1172703004 | UMLS ID:C4310660 | POGLUT1-related limb girdle muscular dystrophy R21 | OMIM ID:617232 +BMGC_DS16263,BMG_DS062475,UMLS ID:C4310661 | lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | combined oxidative phosphorylation deficiency 31 | DOID:0111488 | MONDO:0014976 | OMIM ID:602241 | OMIM ID:617228 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 +BMGC_DS16264,BMG_DS062476,"SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED | MONDO:0014974 | OMIM ID:617223 | UMLS ID:C4310663 | sudden cardiac failure, alcohol-induced | OMIM ID:609988" +BMGC_DS16265,BMG_DS062477,"UMLS ID:C4310664 | MONDO:0014973 | SUDDEN CARDIAC FAILURE, INFANTILE | sudden cardiac failure, infantile | OMIM ID:617222 | OMIM ID:609988" +BMGC_DS16266,BMG_DS062478,"amelogenesis imperfecta type 2A6 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 | amelogenesis imperfecta, hypomaturation type, IIa6 | DOID:0080960 | OMIM ID:617217 | OMIM ID:601404 | MONDO:0014971 | UMLS ID:C4310665" +BMGC_DS16267,BMG_DS062479,OMIM ID:617214 | UMLS ID:C4310666 | OMIM ID:608075 | MONDO:0014970 | SPERMATOGENIC FAILURE 17 | DOID:0070174 | spermatogenic failure 17 +BMGC_DS16268,BMG_DS062480,"MONDO:0014968 | encephalopathy, progressive, with amyotrophy and optic atrophy | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY | UMLS ID:C4310667 | OMIM ID:604934 | OMIM ID:617207" +BMGC_DS16269,BMG_DS062481,"heterotaxy, visceral, 8, autosomal | OMIM ID:617205 | UMLS ID:C4310668 | HETEROTAXY, VISCERAL, 8, AUTOSOMAL | OMIM ID:609721 | MONDO:0014967" +BMGC_DS16270,BMG_DS062482,OMIM ID:617201 | UMLS ID:C4310669 | OMIM ID:606384 | MONDO:0014966 | periventricular nodular heterotopia 7 | PERIVENTRICULAR NODULAR HETEROTOPIA 7 +BMGC_DS16271,BMG_DS062483,UMLS ID:C4310670 | MONDO:0014965 | OMIM ID:617194 | LETHAL CONGENITAL CONTRACTURE SYNDROME 11 | lethal congenital contracture syndrome 11 | OMIM ID:608603 +BMGC_DS16272,BMG_DS062484,MONDO:0014963 | UMLS ID:C4310672 | Shashi-Pena syndrome | SHASHI-PENA SYNDROME | OMIM ID:617190 | OMIM ID:612991 +BMGC_DS16273,BMG_DS062485,"MONDO:0014962 | intellectual disability, autosomal recessive 57 | OMIM ID:617188 | UMLS ID:C4310673" +BMGC_DS16274,BMG_DS062486,UMLS ID:C4310674 | SPERMATOGENIC FAILURE 16 | MONDO:0014961 | OMIM ID:613942 | DOID:0070184 | OMIM ID:617187 | spermatogenic failure 16 +BMGC_DS16275,BMG_DS062487,"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY | OMIM ID:617186 | encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | UMLS ID:C4310675 | MONDO:0020781 | OMIM ID:608862" +BMGC_DS16276,BMG_DS062488,"OMIM ID:103220 | MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT | mitochondrial DNA depletion syndrome 12a | UMLS ID:C4310676 | mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | OMIM ID:617184 | MONDO:0014959 | DOID:0080130" +BMGC_DS16277,BMG_DS062489,"OMIM ID:617183 | Ocular anomalies, axonal neuropathy, developmental delay syndrome | Harel Yoon syndrome | UMLS ID:C4310677 | Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) | Harel-Yoon syndrome | SNOMEDCT ID:1172586007 | MONDO:0014958" +BMGC_DS16278,BMG_DS062490,"language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | MONDO:0014957 | OMIM ID:617182 | UMLS ID:C4310678 | OMIM ID:604447 | LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT CARDIAC ARRHYTHMIA" +BMGC_DS16279,BMG_DS062491,UMLS ID:C4310679 | CHITAYAT SYNDROME | MONDO:0014956 | OMIM ID:617180 | OMIM ID:611888 | Chitayat syndrome +BMGC_DS16280,BMG_DS062492,MONDO:0014955 | RCBTB1-related retinopathy | RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES | OMIM ID:607867 | UMLS ID:C4310680 | OMIM ID:617175 +BMGC_DS16281,BMG_DS062493,"Ehlers-Danlos syndrome periodontal type 2 | EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 | MONDO:0014954 | DOID:0080987 | OMIM ID:120580 | Ehlers-Danlos syndrome, periodontal type 2 | OMIM ID:617174 | UMLS ID:C4310681" +BMGC_DS16282,BMG_DS062494,OMIM ID:602635 | OMIM ID:617171 | intellectual disability-epilepsy-extrapyramidal syndrome | MONDO:0014952 | UMLS ID:C4310683 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES +BMGC_DS16283,BMG_DS062495,"MONDO:0014951 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 74 | Sotos syndrome 3 | OMIM ID:617169 | intellectual developmental disorder, autosomal recessive 74 | DOID:0081218;DOID:0112104 | autosomal recessive intellectual developmental disorder 74 | OMIM ID:612034 | UMLS ID:C4310684" +BMGC_DS16284,BMG_DS062496,"MONDO:0014949 | DOID:0080425 | developmental and epileptic encephalopathy 47 | UMLS ID:C4310685 | OMIM ID:617166 | developmental and epileptic encephalopathy, 47 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47" +BMGC_DS16285,BMG_DS062497,"OMIM ID:617164 | SHORT STATURE-MICROGNATHIA SYNDROME | UMLS ID:C4310686 | OMIM ID:600820 | short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | MONDO:0014948" +BMGC_DS16286,BMG_DS062498,"UMLS ID:C4310687 | MONDO:0014947 | OMIM ID:617162 | developmental and epileptic encephalopathy, 46" +BMGC_DS16287,BMG_DS062499,MONDO:0014946 | UMLS ID:C4310688 | Sifrim-Hitz-Weiss syndrome | DOID:0070529 | OMIM ID:617159 | SIFRIM-HITZ-WEISS SYNDROME | OMIM ID:603277 +BMGC_DS16288,BMG_DS062500,"UMLS ID:C4310689 | SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | OMIM ID:617157 | short stature-brachydactyly-obesity-global developmental delay syndrome | MONDO:0014944 | OMIM ID:610087" +BMGC_DS16289,BMG_DS062501,UMLS ID:C4310690 | MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) | mitochondrial DNA depletion syndrome 15 | OMIM ID:617156 | DOID:0080337 | OMIM ID:600438 | MONDO:0014943 | mitochondrial DNA depletion syndrome 15 (hepatocerebral type) +BMGC_DS16290,BMG_DS062502,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 | OMIM ID:617153 | DOID:0080428 | OMIM ID:137190 | MONDO:0014942 | UMLS ID:C4310691 | developmental and epileptic encephalopathy, 45 | developmental and epileptic encephalopathy 45" +BMGC_DS16291,BMG_DS062503,"ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH | MONDO:0014941 | UMLS ID:C4310692 | arthrogryposis, distal, with impaired proprioception and touch | OMIM ID:617146 | OMIM ID:613629" +BMGC_DS16292,BMG_DS062504,"UMLS ID:C4310693 | neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | OMIM ID:601530 | OMIM ID:617145 | NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET | DOID:0081364 | MONDO:0014940" +BMGC_DS16293,BMG_DS062505,"OMIM ID:617143 | DOID:0110661 | congenital myasthenic syndrome 20 | MONDO:0014939 | UMLS ID:C4310694 | OMIM ID:608761 | MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC" +BMGC_DS16294,BMG_DS062506,MONDO:0014938 | aniridia 3 | OMIM ID:617142 | UMLS ID:C4310695 +BMGC_DS16295,BMG_DS062507,"SNOMEDCT ID:1169355000 | ZTTK syndrome | Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | UMLS ID:C4310696 | Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder) | OMIM ID:617140 | MONDO:0014936 | DOID:0060953 | Zhu Tokita Takenouchi Kim syndrome" +BMGC_DS16296,BMG_DS062508,FRONTOMETAPHYSEAL DYSPLASIA 2 | MONDO:0014935 | UMLS ID:C4310697 | DOID:0111787 | OMIM ID:602614 | OMIM ID:617137 | frontometaphyseal dysplasia 2 +BMGC_DS16297,BMG_DS062509,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 | spinocerebellar ataxia, autosomal recessive 24 | OMIM ID:617133 | autosomal recessive spinocerebellar ataxia 24 | MONDO:0014934 | UMLS ID:C4310699 | OMIM ID:610552 | DOID:0111615" +BMGC_DS16298,BMG_DS062510,"UMLS ID:C4310700 | MONDO:0014933 | developmental and epileptic encephalopathy, 44 | developmental and epileptic encephalopathy 44 | OMIM ID:610552 | OMIM ID:617132 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44 | DOID:0080424" +BMGC_DS16299,BMG_DS062511,OMIM ID:617112 | OMIM ID:617127 | orofaciodigital syndrome XV | UMLS ID:C4310701 | MONDO:0014932 | OROFACIODIGITAL SYNDROME XV +BMGC_DS16300,BMG_DS062512,MONDO:0014931 | OMIM ID:602955 | OMIM ID:617126 | UMLS ID:C4310702 | ALAZAMI-YUAN SYNDROME | Alazami-Yuan syndrome +BMGC_DS16301,BMG_DS062513,"OMIM ID:613279 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56 | DOID:0081217 | MONDO:0014930 | autosomal recessive intellectual developmental disorder 56 | intellectual disability, autosomal recessive 56 | UMLS ID:C4310703 | OMIM ID:617125" +BMGC_DS16302,BMG_DS062514,retinitis pigmentosa 76 | OMIM ID:606822 | UMLS ID:C4310704 | MONDO:0014929 | RETINITIS PIGMENTOSA 76 | OMIM ID:617123 +BMGC_DS16303,BMG_DS062515,DOID:0110997 | MONDO:0014928 | Joubert syndrome 28 | OMIM ID:617121 | JOUBERT SYNDROME 28 | UMLS ID:C4310705 | OMIM ID:609883 +BMGC_DS16304,BMG_DS062516,Joubert syndrome 27 | OMIM ID:614144 | DOID:0110996 | OMIM ID:617120 | JOUBERT SYNDROME 27 | UMLS ID:C4310706 | MONDO:0014927 +BMGC_DS16305,BMG_DS062517,OMIM ID:619471 | Bardet-Biedl syndrome 20 | DOID:0081009 | MONDO:0023670 | BARDET-BIEDL SYNDROME 20 | UMLS ID:C4310707 | OMIM ID:607386 +BMGC_DS16306,BMG_DS062518,"familial focal epilepsy with variable foci 3 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 | epilepsy, familial focal, with variable foci 3 | OMIM ID:617118 | MONDO:0014925 | UMLS ID:C4310708 | DOID:0081423 | OMIM ID:600928" +BMGC_DS16307,BMG_DS062519,"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 | UMLS ID:C4310709 | OMIM ID:617116 | DOID:0081422 | MONDO:0014924 | epilepsy, familial focal, with variable foci 2 | familial focal epilepsy with variable foci 2 | OMIM ID:607072" +BMGC_DS16308,BMG_DS062520,DOID:0070524 | peeling skin syndrome 5 | OMIM ID:601697 | PEELING SKIN SYNDROME 5 | MONDO:0014923 | UMLS ID:C4310710 | OMIM ID:617115 +BMGC_DS16309,BMG_DS062521,"UMLS ID:C4310711 | OMIM ID:605739 | DOID:0080098 | MYOPATHY, MYOFIBRILLAR, 7 | MONDO:0014922 | myofibrillar myopathy 7 | OMIM ID:617114" +BMGC_DS16310,BMG_DS062522,"OMIM ID:617113 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 | developmental and epileptic encephalopathy, 43 | MONDO:0014921 | DOID:0080447 | developmental and epileptic encephalopathy 43 | UMLS ID:C4310712 | OMIM ID:137192" +BMGC_DS16311,BMG_DS062523,MONDO:0014920 | patterned macular dystrophy 3 | OMIM ID:617111 | UMLS ID:C4310713 | Martinique crinkled retinal pigment epitheliopathy (disorder) | MCRPE - Martinique crinkled retinal pigment epitheliopathy | Martinique crinkled retinal pigment epitheliopathy | SNOMEDCT ID:1187639002 +BMGC_DS16312,BMG_DS062524,sessile serrated polyposis cancer syndrome | OMIM ID:617108 | UMLS ID:C4310714 | MONDO:0014919 +BMGC_DS16313,BMG_DS062525,"MONDO:0014918 | SNOMEDCT ID:1169359006 | Tall stature, intellectual disability, renal anomalies syndrome (disorder) | Tall stature, intellectual disability, renal anomalies syndrome | tall stature-intellectual disability-renal anomalies syndrome | OMIM ID:617107 | UMLS ID:C4310715 | Thauvin Robinet Faivre syndrome" +BMGC_DS16314,BMG_DS062526,"UMLS ID:C4310716 | MONDO:0014917 | developmental and epileptic encephalopathy, 42 | OMIM ID:617106" +BMGC_DS16315,BMG_DS062527,"developmental and epileptic encephalopathy 41 | developmental and epileptic encephalopathy, 41 | DOID:0080442 | OMIM ID:617105 | UMLS ID:C4310717 | OMIM ID:600300 | MONDO:0014916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41" +BMGC_DS16316,BMG_DS062528,OMIM ID:617102 | UMLS ID:C4310718 | MONDO:0014915 | short-rib thoracic dysplasia 16 with or without polydactyly | SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY +BMGC_DS16317,BMG_DS062529,OMIM ID:617100 | DOID:0080412 | MONDO:0044300 | OMIM ID:600887 | UMLS ID:C4310719 | FAMILIAL ADENOMATOUS POLYPOSIS 4 | familial adenomatous polyposis 4 +BMGC_DS16318,BMG_DS062530,"UMLS ID:C4310720 | GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY | growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | OMIM ID:617093 | MONDO:0014911 | OMIM ID:600709" +BMGC_DS16319,BMG_DS062531,"MONDO:0014910 | DOID:0110620 | CILIARY DYSKINESIA, PRIMARY, 35 | UMLS ID:C4310721 | OMIM ID:617095 | OMIM ID:617092 | primary ciliary dyskinesia 35" +BMGC_DS16320,BMG_DS062532,"OMIM ID:610263 | MONDO:0014909 | OMIM ID:617091 | UMLS ID:C4310722 | CILIARY DYSKINESIA, PRIMARY, 34 | primary ciliary dyskinesia 34 | DOID:0110610" +BMGC_DS16321,BMG_DS062533,"MONDO:0014908 | DOID:0070288 | UMLS ID:C4310723 | OMIM ID:605629 | MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 17, primary, autosomal recessive | primary autosomal recessive microcephaly 17 | OMIM ID:617090" +BMGC_DS16322,BMG_DS062534,SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY | MONDO:0014907 | short-rib thoracic dysplasia 15 with polydactyly | OMIM ID:617083 | OMIM ID:617088 | UMLS ID:C4310724 +BMGC_DS16323,BMG_DS062535,"DOID:0111557 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B | Charcot-Marie-Tooth disease type 2A2B | UMLS ID:C4310725 | OMIM ID:617087 | MONDO:0014906" +BMGC_DS16324,BMG_DS062536,ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 | MONDO:0014905 | OMIM ID:617086 | OMIM ID:614785 | encephalopathy due to defective mitochondrial and peroxisomal fission 2 | DOID:0060994 | UMLS ID:C4310726 +BMGC_DS16325,BMG_DS062537,"DOID:0080553 | congenital disorder of glycosylation, type IAA | MONDO:0014904 | congenital disorder of glycosylation Iaa | OMIM ID:610463 | OMIM ID:617082 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa | UMLS ID:C4310727" +BMGC_DS16326,BMG_DS062538,"seizures, benign familial infantile, 5 | OMIM ID:600702 | UMLS ID:C4310728 | SEIZURES, BENIGN FAMILIAL INFANTILE, 5 | OMIM ID:617080 | MONDO:0014903 | DOID:0081118 | benign familial infantile seizures 5" +BMGC_DS16327,BMG_DS062539,"UMLS ID:C4310729 | nasopharyngeal carcinoma, susceptibility to, 3 | MONDO:0014902 | OMIM ID:617075" +BMGC_DS16328,BMG_DS062540,"OMIM ID:601906 | OMIM ID:617073 | MONDO:0014901 | TOOTH AGENESIS, SELECTIVE, 8 | tooth agenesis, selective, 8 | UMLS ID:C4310730" +BMGC_DS16329,BMG_DS062541,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | OMIM ID:617070 | 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 | OMIM ID:601465 | DOID:0111516" +BMGC_DS16330,BMG_DS062542,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 | UMLS ID:C4310734 | MONDO:0014898 | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | DOID:0111523 | OMIM ID:617069 | OMIM ID:188250" +BMGC_DS16331,BMG_DS062543,"PORTAL HYPERTENSION, NONCIRRHOTIC, 1 | portal hypertension, noncirrhotic | MONDO:0024193 | OMIM ID:617068 | OMIM ID:601465 | UMLS ID:C4310735" +BMGC_DS16332,BMG_DS062544,"UMLS ID:C4310736 | congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | MONDO:0014896 | Congenital muscular dystrophy Davignon Chauveau type | Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome | Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) | SNOMEDCT ID:1172688004 | OMIM ID:617066" +BMGC_DS16333,BMG_DS062545,"UMLS ID:C4310737 | developmental and epileptic encephalopathy, 40 | developmental and epileptic encephalopathy 40 | OMIM ID:617064 | OMIM ID:617065 | DOID:0080427 | MONDO:0014895 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40" +BMGC_DS16334,BMG_DS062546,Meier-Gorlin syndrome 7 | OMIM ID:603465 | MONDO:0014894 | OMIM ID:617063 | MEIER-GORLIN SYNDROME 7 | DOID:0080518 | UMLS ID:C4310738 +BMGC_DS16335,BMG_DS062547,OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME | Okur-Chung neurodevelopmental syndrome | MONDO:0014893 | OMIM ID:115440 | UMLS ID:C4310739 | OMIM ID:617062 +BMGC_DS16336,BMG_DS062548,"autosomal dominant intellectual developmental disorder 44 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY | DOID:0070074 | UMLS ID:C4310740 | micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | MONDO:0014892 | OMIM ID:601893 | OMIM ID:617061" +BMGC_DS16337,BMG_DS062549,"UMLS ID:C4310741 | OMIM ID:617056 | OMIM ID:609213 | MONDO:0014891 | hyperuricemic nephropathy, familial juvenile type 4 | TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5" +BMGC_DS16338,BMG_DS062550,MONDO:0014890 | cold-induced sweating syndrome 3 | PERCHING syndrome | DOID:0080331 | PERCHING SYNDROME | OMIM ID:611119 | OMIM ID:617055 | UMLS ID:C4310742 +BMGC_DS16339,BMG_DS062551,"MONDO:0014889 | Lenk Ploski syndrome | Childhood-onset basal ganglia degeneration syndrome (disorder) | OMIM ID:617054 | SNOMEDCT ID:1172584005 | Childhood-onset basal ganglia degeneration syndrome | striatonigral degeneration, childhood-onset | UMLS ID:C4310743" +BMGC_DS16340,BMG_DS062552,MONDO:0014887 | UMLS ID:C4310744 | bone marrow failure syndrome 3 | BONE MARROW FAILURE SYNDROME 3 | OMIM ID:617048 | OMIM ID:617052 +BMGC_DS16341,BMG_DS062553,OMIM ID:616283 | UMLS ID:C4310745 | OMIM ID:617051 | severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE | MONDO:0014886 +BMGC_DS16342,BMG_DS062554,OMIM ID:607246 | Hermansky-Pudlak syndrome 10 | UMLS ID:C4310746 | MONDO:0014885 | HERMANSKY-PUDLAK SYNDROME 10 | OMIM ID:617050 +BMGC_DS16343,BMG_DS062555,"DOID:0070225 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 | progressive familial intrahepatic cholestasis 5 | UMLS ID:C4310747 | OMIM ID:603826 | OMIM ID:617049 | cholestasis, progressive familial intrahepatic, 5 | MONDO:0014884" +BMGC_DS16344,BMG_DS062556,"hypertrophic cardiomyopathy 26 | OMIM ID:102565 | UMLS ID:C4310748 | OMIM ID:617047 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5 | DOID:0110327 | MONDO:0800371 | cardiomyopathy, familial restrictive, 5" +BMGC_DS16345,BMG_DS062557,"hypertrophic cardiomyopathy 26 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 | OMIM ID:102565 | UMLS ID:C4310749 | OMIM ID:617047 | MONDO:0014883 | DOID:0110327" +BMGC_DS16346,BMG_DS062558,DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS | MONDO:0014880 | UMLS ID:C4310752 | OMIM ID:617041 | Duane retraction syndrome 3 with or without deafness +BMGC_DS16347,BMG_DS062559,patent ductus arteriosus 3 | OMIM ID:617039 | UMLS ID:C4310753 | MONDO:0024266 +BMGC_DS16348,BMG_DS062560,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 54 | DOID:0081216 | MONDO:0014876 | intellectual disability, autosomal recessive 54 | UMLS ID:C4310755 | autosomal recessive intellectual developmental disorder 54 | OMIM ID:610005 | OMIM ID:617028" +BMGC_DS16349,BMG_DS062561,"UMLS ID:C4310756 | hyperaldosteronism, familial, type IV | HYPERALDOSTERONISM, FAMILIAL, TYPE IV | MONDO:0014875 | OMIM ID:607904 | OMIM ID:617027" +BMGC_DS16350,BMG_DS062562,"PONTOCEREBELLAR HYPOPLASIA, TYPE 2F | OMIM ID:608756 | UMLS ID:C4310757 | pontocerebellar hypoplasia, type 2F | pontocerebellar hypoplasia type 2F | DOID:0112329 | MONDO:0014874 | OMIM ID:617026" +BMGC_DS16351,BMG_DS062563,"UMLS ID:C4310758 | congenital stationary night blindness 1H | DOID:0110866 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H | OMIM ID:617024 | MONDO:0014872 | OMIM ID:139130" +BMGC_DS16352,BMG_DS062564,RETINITIS PIGMENTOSA 75 | MONDO:0014871 | UMLS ID:C4310759 | retinitis pigmentosa 75 | OMIM ID:617023 | OMIM ID:615900 +BMGC_DS16353,BMG_DS062565,"Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | SNOMEDCT ID:1237349008 | hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | MONDO:0014869 | Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome | OMIM ID:617021 | UMLS ID:C4310761" +BMGC_DS16354,BMG_DS062566,"OMIM ID:611647 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 | DOID:0080417 | OMIM ID:617020 | developmental and epileptic encephalopathy, 38 | UMLS ID:C4310762 | developmental and epileptic encephalopathy 38 | MONDO:0014868" +BMGC_DS16355,BMG_DS062567,spinocerebellar ataxia 43 | UMLS ID:C4310763 | SPINOCEREBELLAR ATAXIA 43 | DOID:0111745 | OMIM ID:120520 | MONDO:0014867 | OMIM ID:617018 | cerebellar ataxia type 43 +BMGC_DS16356,BMG_DS062568,"OMIM ID:617014 | OMIM ID:138971 | severe congenital neutropenia 7 | DOID:0112129 | UMLS ID:C4310764 | MONDO:0014865 | autosomal recessive severe congenital neutropenia due to CSF3R deficiency | NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE" +BMGC_DS16357,BMG_DS062569,MONDO:0014864 | Hypermanganesemia with dystonia 2 | hypermanganesemia with dystonia 2 | Hypermanganesemia with dystonia 2 (disorder) | SNOMEDCT ID:768554008 | OMIM ID:617013 | HMNDYT2 - hypermanganesemia with dystonia 2 | UMLS ID:C4310765 +BMGC_DS16358,BMG_DS062570,"macrocephaly, dysmorphic facies, and psychomotor retardation | OMIM ID:605109 | MONDO:0014863 | MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION | UMLS ID:C4310766 | OMIM ID:617011" +BMGC_DS16359,BMG_DS062571,"cerebral palsy, spastic quadriplegic, 3 | OMIM ID:601568 | DOID:0081361 | CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 | UMLS ID:C4310767 | spastic quadriplegic cerebral palsy 3 | OMIM ID:617008 | MONDO:0014862" +BMGC_DS16360,BMG_DS062572,"OMIM ID:176947 | MONDO:0014861 | autoimmune disease, multisystem, infantile-onset, 2 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 | UMLS ID:C4310768 | OMIM ID:617006" +BMGC_DS16361,BMG_DS062573,DOID:0060975 | polycystic liver disease 2 | OMIM ID:617004 | UMLS ID:C4310769 | POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS | MONDO:0014860 +BMGC_DS16362,BMG_DS062574,"developmental and epileptic encephalopathy, 37 | UMLS ID:C4310770 | DOID:0080435 | OMIM ID:604574 | OMIM ID:616981 | MONDO:0014859 | developmental and epileptic encephalopathy 37 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37" +BMGC_DS16363,BMG_DS062575,"UMLS ID:C4310771 | MONDO:0014858 | intellectual disability, autosomal dominant 43 | OMIM ID:616977" +BMGC_DS16364,BMG_DS062576,"OMIM ID:616975 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART | MONDO:0014857 | UMLS ID:C4310772 | neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" +BMGC_DS16365,BMG_DS062577,"UMLS ID:C4310774 | intellectual disability, autosomal dominant 42 | OMIM ID:616973 | MONDO:0014855" +BMGC_DS16366,BMG_DS062578,"autosomal dominant nonsyndromic hearing loss 70 | OMIM ID:616968 | DEAFNESS, AUTOSOMAL DOMINANT 70 | OMIM ID:116945 | MONDO:0014853 | UMLS ID:C4310775" +BMGC_DS16367,BMG_DS062579,OMIM ID:616959 | UMLS ID:C4310776 | RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS | OMIM ID:612907 | MONDO:0014850 | retinitis pigmentosa and erythrocytic microcytosis +BMGC_DS16368,BMG_DS062580,"You Hoover Fong syndrome | Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | UMLS ID:C4310778 | Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder | OMIM ID:616954 | TELO2-related intellectual disability-neurodevelopmental disorder | SNOMEDCT ID:1172626003 | TELO2-related intellectual disability, neurodevelopmental disorder | MONDO:0014848" +BMGC_DS16369,BMG_DS062581,DOID:0070172 | SPERMATOGENIC FAILURE 15 | OMIM ID:611486 | UMLS ID:C4310779 | spermatogenic failure 15 | MONDO:0014847 | OMIM ID:616950 +BMGC_DS16370,BMG_DS062582,"MONDO:0014845 | spinocerebellar ataxia, autosomal recessive 22 | autosomal recessive spinocerebellar ataxia 22 | OMIM ID:614884 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 | DOID:0111614 | OMIM ID:616948 | UMLS ID:C4310781" +BMGC_DS16371,BMG_DS062583,premature ovarian failure 12 | DOID:0080869 | PREMATURE OVARIAN FAILURE 12 | OMIM ID:611486 | MONDO:0014844 | primary ovarian insufficiency 12 | OMIM ID:616947 | UMLS ID:C4310782 +BMGC_DS16372,BMG_DS062584,PREMATURE OVARIAN FAILURE 11 | MONDO:0014843 | UMLS ID:C4310783 | OMIM ID:609413 | OMIM ID:616946 | DOID:0080868 | premature ovarian failure 11 | primary ovarian insufficiency 11 +BMGC_DS16373,BMG_DS062585,"DOID:0070071 | MONDO:0014842 | OMIM ID:608628 | UMLS ID:C4310784 | autosomal dominant intellectual developmental disorder 41 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41 | intellectual disability, autosomal dominant 41 | OMIM ID:616944" +BMGC_DS16374,BMG_DS062586,"OMIM ID:616943 | MONDO:0014841 | trichothiodystrophy 6, nonphotosensitive | nonphotosensitive trichothiodystrophy 6 | UMLS ID:C4310785 | DOID:0111872 | TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE | OMIM ID:189964" +BMGC_DS16375,BMG_DS062587,"OMIM ID:616941 | MONDO:0014840 | agammaglobulinemia 8A | agammaglobulinemia 8, autosomal dominant | UMLS ID:C4310786 | DOID:0081140 | OMIM ID:147141 | AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT" +BMGC_DS16376,BMG_DS062588,"OMIM ID:607468 | CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION | UMLS ID:C4310787 | OMIM ID:616939 | MONDO:0014839 | chorea, childhood-onset, with psychomotor retardation" +BMGC_DS16377,BMG_DS062589,UMLS ID:C4310788 | COFFIN-SIRIS SYNDROME 5 | OMIM ID:603111 | Coffin-Siris syndrome 5 | OMIM ID:616938 | DOID:0112368 | MONDO:0014838 +BMGC_DS16378,BMG_DS062590,MONDO:0014837 | OMIM ID:190090 | UMLS ID:C4310789 | THROMBOCYTOPENIA 6 | OMIM ID:616937 | thrombocytopenia 6 +BMGC_DS16379,BMG_DS062591,"Charcot-Marie-Tooth disease axonal type 2CC | UMLS ID:C4310790 | DOID:0110180 | OMIM ID:616924 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC | MONDO:0014836 | OMIM ID:162230" +BMGC_DS16380,BMG_DS062592,"OMIM ID:616922 | UMLS ID:C4310791 | DOID:0060998 | STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 | striatal degeneration 2 | striatal degeneration, autosomal dominant 2 | MONDO:0014835 | OMIM ID:610652" +BMGC_DS16381,BMG_DS062593,heart and brain malformation syndrome | HEART AND BRAIN MALFORMATION SYNDROME | MONDO:0014833 | UMLS ID:C4310793 | OMIM ID:613176 | OMIM ID:616920 +BMGC_DS16382,BMG_DS062594,"intellectual disability, autosomal recessive 53 | MONDO:0014832 | OMIM ID:616917 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY | UMLS ID:C4310794 | OMIM ID:616918" +BMGC_DS16383,BMG_DS062595,MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME | OMIM ID:616914 | progeroid and marfanoid aspect-lipodystrophy syndrome | OMIM ID:134797 | UMLS ID:C4310796 | MONDO:0014831 +BMGC_DS16384,BMG_DS062596,"MONDO:0014830 | platelet-type bleeding disorder 20 | OMIM ID:614958 | DOID:0111055 | BLEEDING DISORDER, PLATELET-TYPE, 20 | OMIM ID:616913 | UMLS ID:C4310797" +BMGC_DS16385,BMG_DS062597,OMIM ID:603946 | MONDO:0014829 | UMLS ID:C4310798 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 | immunodeficiency-centromeric instability-facial anomalies syndrome 4 | OMIM ID:616911 +BMGC_DS16386,BMG_DS062598,UMLS ID:C4310799 | OMIM ID:616910 | MONDO:0014828 | immunodeficiency-centromeric instability-facial anomalies syndrome 3 | OMIM ID:609937 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 +BMGC_DS16387,BMG_DS062599,"UMLS ID:C4310801 | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Developmental delay, short stature, dysmorphic features, sparse hair syndrome | Loucks Innes syndrome | SNOMEDCT ID:1217229007 | MONDO:0031632 | developmental delay with short stature, dysmorphic facial features, and sparse hair | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)" +BMGC_DS16388,BMG_DS062600,"MONDO:0800369 | UMLS ID:C4310802 | PARKINSON DISEASE 19B, EARLY-ONSET | OMIM ID:608375 | parkinson disease 19B, early-onset | OMIM ID:615528" +BMGC_DS16389,BMG_DS062601,immunodeficiency 51 | OMIM ID:613953 | IMMUNODEFICIENCY 51 | MONDO:0013500 | OMIM ID:605461 | DOID:0111996 | UMLS ID:C4310803 +BMGC_DS16390,BMG_DS062602,SNOMEDCT ID:1187122000 | MONDO:0044700 | SIN3A-related intellectual disability syndrome | WITKOS - Witteveen Kolk syndrome | Witteveen Kolk syndrome | UMLS ID:C4310804 | SIN3A-related intellectual disability syndrome due to a point mutation | SIN3A (Switch-insensitive 3 transcription regulator family member A)-related intellectual disability syndrome | Witteveen Kolk syndrome (disorder) +BMGC_DS16391,BMG_DS062603,"MONDO:0000909 | BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS | Bartter disease type 4B | OMIM ID:613090 | UMLS ID:C4310805" +BMGC_DS16392,BMG_DS062604,DOID:0070353 | OMIM ID:612018 | CATARACT 47 | cataract 47 | UMLS ID:C4310806 | MONDO:0012786 | juvenile cataract-microcornea-renal glucosuria syndrome +BMGC_DS16393,BMG_DS062605,brachydactyly-syndactyly-oligodactyly syndrome | OMIM ID:142989 | UMLS ID:C4310807 | OMIM ID:610713 | MONDO:0800344 | BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME +BMGC_DS16394,BMG_DS062606,"UMLS ID:C4310808 | MONDO:0012205 | STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 | OMIM ID:603390 | autosomal dominant striatal neurodegeneration type 1 | OMIM ID:609161" +BMGC_DS16395,BMG_DS062607,anterior segment dysgenesis 5 | ANTERIOR SEGMENT DYSGENESIS 5 | OMIM ID:604229 | UMLS ID:C4310809 | DOID:0080610 +BMGC_DS16396,BMG_DS062608,"MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS | OMIM ID:300195 | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | MONDO:0010516 | UMLS ID:C4310810 | OMIM ID:300990 | DOID:0111859" +BMGC_DS16397,BMG_DS062609,DOID:0111861 | OMIM ID:301870 | UMLS ID:C4310811 | MEESTER-LOEYS SYNDROME | Meester-Loeys syndrome | MONDO:0010515 | OMIM ID:300989 +BMGC_DS16398,BMG_DS062610,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE | OMIM ID:300610 | OMIM ID:300986 | UMLS ID:C4310814 | syndromic X-linked intellectual developmental disorder bain type | DOID:0070538 | MONDO:0010512 | intellectual disability, X-linked, syndromic, Bain type" +BMGC_DS16399,BMG_DS062611,"UMLS ID:C4310815 | DOID:0111863 | X-linked congenital bilateral absence of vas deferens | MONDO:0010511 | VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED | OMIM ID:300985 | vas deferens, congenital bilateral aplasia of, X-linked | OMIM ID:300572" +BMGC_DS16400,BMG_DS062612,"DOID:0112036 | OMIM ID:300984 | UMLS ID:C4310816 | MONDO:0010510 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 | non-syndromic X-linked intellectual disability 105 | OMIM ID:300975 | intellectual disability, X-linked 105" +BMGC_DS16401,BMG_DS062613,"UMLS ID:C4310817 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 | intellectual disability, X-linked 104 | OMIM ID:300838 | MONDO:0010509 | DOID:0112018 | non-syndromic X-linked intellectual disability 104 | OMIM ID:300983" +BMGC_DS16402,BMG_DS062614,"UMLS ID:C4310818 | non-syndromic X-linked intellectual disability 103 | intellectual disability, X-linked 103 | OMIM ID:300980 | DOID:0112020 | OMIM ID:300982 | MONDO:0010508 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103" +BMGC_DS16403,BMG_DS062615,DOID:0112002 | immunodeficiency 47 | UMLS ID:C4310819 | OMIM ID:300972 | IMMUNODEFICIENCY 47 | OMIM ID:300197 | MONDO:0010504 +BMGC_DS16404,BMG_DS062616,"UMLS ID:C4310820 | OMIM ID:300971 | OMIM ID:300470 | Bartter disease type 5 | MONDO:0010503 | BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT" +BMGC_DS16405,BMG_DS062617,MONDO:0009703 | OMIM ID:255100 | myopathy with abnormal lipid metabolism | OMIM ID:610595 | LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY | UMLS ID:C4310822 +BMGC_DS16406,BMG_DS062618,"UMLS ID:C4310824 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR | OMIM ID:610476" +BMGC_DS16407,BMG_DS062619,"MONDO:0800413 | antisocial behavior, susceptibility to | UMLS ID:C4310831" +BMGC_DS16408,BMG_DS062620,OMIM ID:617101 | MONDO:0014914 | Dias-Logan syndrome | UMLS ID:C4310833 +BMGC_DS16409,BMG_DS062621,"ALACRIMA, CONGENITAL, AUTOSOMAL DOMINANT | OMIM ID:103420 | alacrima, congenital, autosomal dominant | MONDO:0007075 | UMLS ID:C4310836" +BMGC_DS16410,BMG_DS062622,"SANDHOFF DISEASE, CHRONIC | OMIM ID:606873 | UMLS ID:C4310842" +BMGC_DS16411,BMG_DS062627,DUANE RETRACTION SYNDROME 3 | OMIM ID:608968 | UMLS ID:C4310873 +BMGC_DS16412,BMG_DS062636,"BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF | OMIM ID:606869 | UMLS ID:C4310892" +BMGC_DS16413,BMG_DS062637,"GM2-GANGLIOSIDOSIS, ADULT-ONSET | UMLS ID:C4310893 | OMIM ID:606869" +BMGC_DS16414,BMG_DS062647,"ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | OMIM ID:602669 | UMLS ID:C4310917" +BMGC_DS16415,BMG_DS062657,MONDO:0015010 | OMIM ID:601019 | UMLS ID:C4310943 | atypical glycine encephalopathy | OMIM ID:617301 | GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE +BMGC_DS16416,BMG_DS062663,"UMLS ID:C4310972 | BETA-THALASSEMIA, ASHKENAZI JEWISH TYPE | OMIM ID:141900" +BMGC_DS16417,BMG_DS062664,"BETA-THALASSEMIA INTERMEDIA, DOMINANT | UMLS ID:C4310973 | OMIM ID:141900" +BMGC_DS16418,BMG_DS062668,"OMIM ID:617219 | UMLS ID:C4311046 | MONDO:0014972 | chromosome 19q13.11 deletion syndrome, proximal | CHROMOSOME 19q13.11 DELETION SYNDROME, PROXIMAL" +BMGC_DS16419,BMG_DS062669,"UMLS ID:C4311047 | MONDO:0014825 | CHROMOSOME 11p13 DELETION SYNDROME, DISTAL | OMIM ID:616902 | chromosome 11p13 deletion syndrome, distal" +BMGC_DS16420,BMG_DS062670,"chromosome 19q13.11 deletion syndrome, distal | UMLS ID:C4311048 | OMIM ID:613026 | CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL | MONDO:0700107" +BMGC_DS16421,BMG_DS062671,OMIM ID:300979 | UMLS ID:C4311049 | Xq25 microduplication syndrome | CHROMOSOME Xq25 DUPLICATION SYNDROME | MONDO:0010507 +BMGC_DS16422,BMG_DS062677,sleep-related hypermotor epilepsy | MONDO:0000030 | OMIM ID:MTHU056122 | Nocturnal frontal lobe epilepsy | UMLS ID:C4313718 +BMGC_DS16423,BMG_DS062701,brachydactyly type E | UMLS ID:C4315392 | MONDO:0019677 +BMGC_DS16424,BMG_DS062793,"MeSH ID:C537020 | Kenny-Caffey syndrome, type 2 | autosomal dominant Kenny-Caffey syndrome | OMIM ID:127000 | MONDO:0007478 | UMLS ID:C4316787" +BMGC_DS16425,BMG_DS062794,partial lipodystrophy | MONDO:0027767 | UMLS ID:C4316789 +BMGC_DS16426,BMG_DS062796,Entamoeba histolytica Infection | Entamoebiasis | UMLS ID:C4316791 | MeSH ID:D004749 +BMGC_DS16427,BMG_DS062799,Writer's Cramp | MeSH ID:D020821 | UMLS ID:C4316810 | Dystonic Disorders +BMGC_DS16428,BMG_DS062800,Afibrinogenemia | MeSH ID:D000347 | UMLS ID:C4316812 | Fibrinogen Deficiency +BMGC_DS16429,BMG_DS062802,UMLS ID:C4316870 | eye disorder | MONDO:0005328 +BMGC_DS16430,BMG_DS062806,SNOMEDCT ID:111398009 | Cystine diathesis | ICD10 ID:E72.04 | MeSH ID:D003554 | Cystinosis | SNOMEDCT ID:190681003 | Cystine disease | cystinosis | Cystinosis (disorder) | Lignac-Fanconi syndrome | SNOMEDCT ID:367374009 | Cystine storage disease | UMLS ID:C4316899 | MONDO:0016239 +BMGC_DS16431,BMG_DS062807,Seizures | UMLS ID:C4316903 | MeSH ID:D012640 | Absence Seizures +BMGC_DS16432,BMG_DS062811,Hypothyroidism | MeSH ID:D007037 | UMLS ID:C4316995 | Primary Hypothyroidism +BMGC_DS16433,BMG_DS062812,Diverticular Diseases | UMLS ID:C4317009 | MeSH ID:D000076385 +BMGC_DS16434,BMG_DS062813,UMLS ID:C4317043 | Simpson-Golabi-Behmel syndrome (disorder) | Bulldog syndrome | Simpson-Golabi-Behmel syndrome | SNOMEDCT ID:439143004 | MONDO:0010731 +BMGC_DS16435,BMG_DS062816,MONDO:0003240 | UMLS ID:C4317107 | thyroid gland disorder +BMGC_DS16436,BMG_DS062817,MeSH ID:D012640 | Epileptic Seizures | Seizures | UMLS ID:C4317109 +BMGC_DS16437,BMG_DS062819,Polynesian Bronchiectasis | DOID:0050144 | UMLS ID:C4317124 | MeSH ID:D007619 | Kartagener syndrome | Kartagener Syndrome +BMGC_DS16438,BMG_DS062820,Pellagra | SNOMEDCT ID:418279001 | SNOMEDCT ID:238127001 | UMLS ID:C4317126 | Pellagra (disorder) | SNOMEDCT ID:56550003 | Vitamin PP deficiency | Vitamin B3 deficiency | Nicotinamide deficiency | Nicotinic acid deficiency | Niacin deficiency (disorder) | Niacin deficiency +BMGC_DS16439,BMG_DS062821,"UMLS ID:C4317151 | MONDO:0019073 | Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | SNOMEDCT ID:723363009 | Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome | OMIM ID:137940 | Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome | HLTRS (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome | HLTRS (hypotrichosis, lymphoedema, telangiectasia, renal defect) syndrome | hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" +BMGC_DS16440,BMG_DS062823,OMIM ID:112240 | COLE-CARPENTER SYNDROME 1 | UMLS ID:C4317154 | OMIM ID:176790 | MONDO:0007204 | Cole-Carpenter syndrome 1 +BMGC_DS16441,BMG_DS062824,MeSH ID:D063766 | Pediatric Obesity | UMLS ID:C4317171 | Adolescent Obesity +BMGC_DS16442,BMG_DS062826,OMIM ID:612379 | Congenital disorder of glycosylation type 1q | SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation | UMLS ID:C4317224 | SRD5A3-congenital disorder of glycosylation | MONDO:0012885 | Congenital disorder of glycosylation type Iq | SNOMEDCT ID:733601006 | Congenital disorder of glycosylation type 1q (disorder) +BMGC_DS16443,BMG_DS062827,"developmental and epileptic encephalopathy, 36 | OMIM ID:300884 | Congenital disorder of glycosylation type 1s (disorder) | ALG13-CDG (congenital disorder of glycosylation) | Congenital disorder of glycosylation type 1s | UMLS ID:C4317295 | MONDO:0010472 | Congenital disorder of glycosylation type Is | SNOMEDCT ID:733451007" +BMGC_DS16444,BMG_DS062829,Factor V deficiency | UMLS ID:C4317320 | factor V deficiency | Factor V deficiency (disorder) | SNOMEDCT ID:4320005 | MONDO:0020586 | OMIM ID:MTHU023372 +BMGC_DS16445,BMG_DS062830,"absence epilepsy | DOID:0070309 | UMLS ID:C4317339 | Juvenile Absence Epilepsy | juvenile absence epilepsy | MONDO:0800453 | Epilepsy, Absence | MeSH ID:D004832" +BMGC_DS16446,BMG_DS062831,MONDO:0015892 | growth hormone insensitivity syndrome | UMLS ID:C4318479 +BMGC_DS16447,BMG_DS062840,BARDET-BIEDL SYNDROME 21 | OMIM ID:617406 | Bardet-Biedl syndrome 21 | DOID:0081010 | UMLS ID:C4319932 | bardet-biedl syndrome 21 | OMIM ID:614477 | MONDO:0044308 +BMGC_DS16448,BMG_DS062841,MONDO:0004747 | UMLS ID:C4321245 | cleft lip +BMGC_DS16449,BMG_DS062857,Hyperandrogenism due to cortisone reductase deficiency (disorder) | UMLS ID:C4329210 | SNOMEDCT ID:783696009 | Hyperandrogenism due to cortisone reductase deficiency | 11-beta-hydroxysteroid dehydrogenase deficiency type 1 +BMGC_DS16450,BMG_DS062860,DOID:0070629 | acute myeloid leukemia with CBFA2T3-GLIS2 fusion | UMLS ID:C4329266 +BMGC_DS16451,BMG_DS062864,"hypercalcemia, infantile | Familial infantile hypercalcaemia with suppressed intact parathyroid hormone | Autosomal recessive infantile hypercalcaemia | Familial infantile hypercalcemia with suppressed intact parathyroid hormone | SNOMEDCT ID:771445001 | MONDO:0000212 | UMLS ID:C4329374 | Autosomal recessive infantile hypercalcemia (disorder) | Autosomal recessive infantile hypercalcemia" +BMGC_DS16452,BMG_DS062871,MONDO:0100291 | UMLS ID:C4329780 | early T cell progenitor acute lymphoblastic leukemia +BMGC_DS16453,BMG_DS062883,rosette-forming glioneuronal tumor of fourth ventricule | UMLS ID:C4331262 | MONDO:0016736 +BMGC_DS16454,BMG_DS062888,MONDO:0020438 | atrial septal aneurysm | UMLS ID:C4476553 +BMGC_DS16455,BMG_DS062893,"ciliary dyskinesia, primary, 36, X-linked | MONDO:0010517 | CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED | OMIM ID:300933 | DOID:0111850 | UMLS ID:C4478372 | primary ciliary dyskinesia 36 | OMIM ID:300991" +BMGC_DS16456,BMG_DS062894,"UMLS ID:C4478379 | MONDO:0030907 | OMIM ID:300997 | intellectual disability, X-linked 106" +BMGC_DS16457,BMG_DS062895,"UMLS ID:C4478383 | intellectual disability, X-linked, syndromic, 35 | OMIM ID:312173 | DOID:0080241 | MONDO:0030908 | syndromic X-linked mental retardation 35 | OMIM ID:300998 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 35" +BMGC_DS16458,BMG_DS062901,MONDO:0054637 | OMIM ID:602775 | DOID:0080692 | UMLS ID:C4478716 | OMIM ID:607721 | Noonan syndrome-like disorder with loose anagen hair 1 | NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 +BMGC_DS16459,BMG_DS062903,OMIM ID:613735 | UMLS ID:C4478940 | brain malformations with or without urinary tract defects | MONDO:0100478 +BMGC_DS16460,BMG_DS062904,"MYASTHENIC SYNDROME, CONGENITAL, 22 | OMIM ID:609557 | MONDO:0044299 | UMLS ID:C4479088 | DOID:0080587 | myasthenic syndrome, congenital, 22 | OMIM ID:616224 | congenital myasthenic syndrome 22" +BMGC_DS16461,BMG_DS062906,OMIM ID:617336 | OMIM ID:608517 | MONDO:0015023 | UMLS ID:C4479186 | DOID:0110933 | CONGENITAL MYOPATHY 24 | nemaline myopathy 11 | MYPN-related myopathy +BMGC_DS16462,BMG_DS062907,"OMIM ID:617339 | MONDO:0015025 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 | developmental and epileptic encephalopathy 51 | developmental and epileptic encephalopathy, 51 | OMIM ID:154100 | UMLS ID:C4479208 | DOID:0080433" +BMGC_DS16463,BMG_DS062908,OMIM ID:617341 | cerebroretinal microangiopathy with calcifications and cysts 2 | MONDO:0015026 | CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 | UMLS ID:C4479220 | OMIM ID:613128 +BMGC_DS16464,BMG_DS062909,OMIM ID:603716 | OMIM ID:617343 | HYPERPARATHYROIDISM 4 | UMLS ID:C4479229 | MONDO:0024570 | hyperparathyroidism 4 +BMGC_DS16465,BMG_DS062910,"OMIM ID:617349 | MONDO:0044301 | aortic aneurysm, familial thoracic 11, susceptibility to | UMLS ID:C4479235" +BMGC_DS16466,BMG_DS062911,"OMIM ID:617350 | developmental and epileptic encephalopathy 52 | DOID:0080455 | UMLS ID:C4479236 | MONDO:0033361 | OMIM ID:600235 | developmental and epileptic encephalopathy, 52 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52" +BMGC_DS16467,BMG_DS062912,"OMIM ID:603309 | MONDO:0044302 | UMLS ID:C4479246 | congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | DOID:0112247 | CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER | OMIM ID:617360" +BMGC_DS16468,BMG_DS062913,MONDO:0044303 | OMIM ID:617364 | CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA | OMIM ID:605435 | UMLS ID:C4479250 | congenital heart defects and ectodermal dysplasia +BMGC_DS16469,BMG_DS062914,OMIM ID:603164 | UMLS ID:C4479254 | Peroxisome biogenesis disorder 10B | MONDO:0054549 | OMIM ID:617370 | peroxisome biogenesis disorder 10B | DOID:0081440 | PEROXISOME BIOGENESIS DISORDER 10B +BMGC_DS16470,BMG_DS062915,"OMIM ID:617383 | UMLS ID:C4479260 | avascular necrosis of femoral head, primary, 2 | OMIM ID:605427 | MONDO:0054551 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2" +BMGC_DS16471,BMG_DS062916,"HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT | OMIM ID:606060 | OMIM ID:617384 | UMLS ID:C4479270 | MONDO:0044304 | hyperphenylalaninemia due to DNAJC12 deficiency" +BMGC_DS16472,BMG_DS062917,AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS | OMIM ID:617388 | OMIM ID:606636 | autoinflammation with arthritis and dyskeratosis | MONDO:0060457 | UMLS ID:C4479278 +BMGC_DS16473,BMG_DS062918,"developmental and epileptic encephalopathy, 53 | UMLS ID:C4479313 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 | MONDO:0033362 | OMIM ID:617389 | OMIM ID:604297 | DOID:0080464 | developmental and epileptic encephalopathy 53" +BMGC_DS16474,BMG_DS062919,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 | DOID:0080418 | OMIM ID:617391 | UMLS ID:C4479319 | developmental and epileptic encephalopathy, 54 | MONDO:0033363 | developmental and epileptic encephalopathy 54 | OMIM ID:602869" +BMGC_DS16475,BMG_DS062920,"ectodermal dysplasia 13, hair/tooth type | UMLS ID:C4479322 | DOID:0111650 | ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE | MONDO:0044305 | ectodermal dysplasia 13 | OMIM ID:617392 | OMIM ID:609898" +BMGC_DS16476,BMG_DS062921,"OMIM ID:617393 | neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | UMLS ID:C4479333 | MONDO:0044306 | OMIM ID:610672 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION" +BMGC_DS16477,BMG_DS062922,"OMIM ID:605755 | isolated neonatal sclerosing cholangitis | MONDO:0018816 | SCLEROSING CHOLANGITIS, NEONATAL | OMIM ID:617394 | UMLS ID:C4479344" +BMGC_DS16478,BMG_DS062923,"congenital disorder of glycosylation, type IIq | UMLS ID:C4479353 | Component of oligomeric golgi complex 2-related congenital disorder of glycosylation (disorder) | COG2-CDG - component of oligomeric golgi complex 2 - congenital disorder of glycosylation | OMIM ID:617395 | COG2-related congenital disorder of glycosylation | MONDO:0054559 | Component of oligomeric golgi complex 2-related congenital disorder of glycosylation | SNOMEDCT ID:1197753005" +BMGC_DS16479,BMG_DS062924,ANAUXETIC DYSPLASIA 2 | MONDO:0054561 | UMLS ID:C4479357 | anauxetic dysplasia 2 | OMIM ID:602486 | OMIM ID:617396 | DOID:0080962 +BMGC_DS16480,BMG_DS062925,PSEUDO-TORCH SYNDROME 2 | OMIM ID:617397 | OMIM ID:607057 | UMLS ID:C4479376 | pseudo-TORCH syndrome 2 | MONDO:0018828 +BMGC_DS16481,BMG_DS062926,"autosomal recessive cutis laxa type 2C | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | OMIM ID:108746 | MONDO:0027462 | UMLS ID:C4479387 | OMIM ID:617402" +BMGC_DS16482,BMG_DS062927,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | autosomal recessive cutis laxa type 2D | OMIM ID:617403 | UMLS ID:C4479409 | MONDO:0027451 | OMIM ID:607027" +BMGC_DS16483,BMG_DS062928,"OMIM ID:617404 | UMLS ID:C4479410 | MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY | DOID:0080197 | MONDO:0024607 | OMIM ID:607875 | congenital muscular dystrophy with cataracts and intellectual disability" +BMGC_DS16484,BMG_DS062929,short-rib thoracic dysplasia 17 with or without polydactyly | MONDO:0054565 | UMLS ID:C4479416 | OMIM ID:617405 | SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY +BMGC_DS16485,BMG_DS062930,DOID:0111893 | OMIM ID:617408 | DIAMOND-BLACKFAN ANEMIA 16 | UMLS ID:C4479424 | MONDO:0044309 | Diamond-Blackfan anemia 16 | OMIM ID:607526 +BMGC_DS16486,BMG_DS062931,UMLS ID:C4479428 | OMIM ID:603702 | MONDO:0044310 | Diamond-Blackfan anemia 17 | DIAMOND-BLACKFAN ANEMIA 17 | DOID:0111880 | OMIM ID:617409 +BMGC_DS16487,BMG_DS062932,"UMLS ID:C4479431 | OMIM ID:617412 | MONDO:0044311 | OMIM ID:603683 | DOID:0070415 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY | brachycephaly, trichomegaly, and developmental delay" +BMGC_DS16488,BMG_DS062933,immunoskeletal dysplasia with neurodevelopmental abnormalities | IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES | OMIM ID:617425 | MONDO:0044312 | OMIM ID:605744 | UMLS ID:C4479452 +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 | OMIM ID:616432 | retinitis pigmentosa 78 | MONDO:0044314 | OMIM ID:617433 +BMGC_DS16491,BMG_DS062937,MONDO:0054573 | LOPES-MACIEL-RODAN SYNDROME | OMIM ID:617435 | Lopes-Maciel-Rodan syndrome | UMLS ID:C4479491 | OMIM ID:613004 +BMGC_DS16492,BMG_DS062938,MONDO:0044315 | DOID:0060912 | craniosynostosis 7 | OMIM ID:617439 | UMLS ID:C4479496 | CRANIOSYNOSTOSIS 7 +BMGC_DS16493,BMG_DS062939,"OMIM ID:606520 | MONDO:0044316 | THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS | thrombocytopenia, anemia, and myelofibrosis | UMLS ID:C4479504 | OMIM ID:617441" +BMGC_DS16494,BMG_DS062940,DOID:0080870 | OMIM ID:617442 | primary ovarian insufficiency 13 | premature ovarian failure 13 | PREMATURE OVARIAN FAILURE 13 | MONDO:0044317 | OMIM ID:603382 | UMLS ID:C4479510 +BMGC_DS16495,BMG_DS062941,"bleeding disorder, platelet-type, 21 | OMIM ID:193067 | BLEEDING DISORDER, PLATELET-TYPE, 21 | OMIM ID:617443 | UMLS ID:C4479515 | MONDO:0054577" +BMGC_DS16496,BMG_DS062942,OMIM ID:617450 | UMLS ID:C4479517 | intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | OMIM ID:605100 | MONDO:0044318 | JANSEN-DE VRIES SYNDROME +BMGC_DS16497,BMG_DS062943,"OMIM ID:617452 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES | OMIM ID:612021 | UMLS ID:C4479520 | intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | MONDO:0044319" +BMGC_DS16498,BMG_DS062944,RETINITIS PIGMENTOSA 79 | OMIM ID:617460 | retinitis pigmentosa 79 | MONDO:0044320 | UMLS ID:C4479526 | OMIM ID:142600 +BMGC_DS16499,BMG_DS062945,Townes-Brocks syndrome 2 | MONDO:0054582 | OMIM ID:607861 | OMIM ID:617466 | TOWNES-BROCKS SYNDROME 2 | UMLS ID:C4479534 +BMGC_DS16500,BMG_DS062946,"UMLS ID:C4479539 | DOID:0080978 | arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | OMIM ID:608303 | MONDO:0060486 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT | OMIM ID:617468 | arthrogryposis multiplex congenita-1" +BMGC_DS16501,BMG_DS062947,SPECIFIC GRANULE DEFICIENCY 2 | specific granule deficiency 2 | MONDO:0044208 | UMLS ID:C4479548 | OMIM ID:601736 | OMIM ID:617475 +BMGC_DS16502,BMG_DS062948,structural heart defects and renal anomalies syndrome | MONDO:0044321 | OMIM ID:617478 | UMLS ID:C4479549 | STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME | OMIM ID:617449 +BMGC_DS16503,BMG_DS062949,"MONDO:0060489 | OMIM ID:617480 | UMLS ID:C4479552 | 46,XX sex reversal 4" +BMGC_DS16504,BMG_DS062950,"Prune exopolyphosphatase 1-related neurological syndrome (disorder) | MONDO:0060490 | Prune exopolyphosphatase 1-related neurological syndrome | OMIM ID:617481 | SNOMEDCT ID:1222657001 | PRUNE1-related neurological syndrome | UMLS ID:C4479566 | neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" +BMGC_DS16505,BMG_DS062951,neurodevelopmental disorder with involuntary movements | OMIM ID:139311 | MONDO:0060491 | NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS | OMIM ID:617493 | DOID:0112276 | UMLS ID:C4479569 +BMGC_DS16506,BMG_DS062952,Noonan syndrome-like disorder with loose anagen hair 2 | UMLS ID:C4479577 | OMIM ID:617506 | NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 | DOID:0080693 | OMIM ID:600590 | MONDO:0054588 +BMGC_DS16507,BMG_DS062953,UMLS ID:C4479588 | OMIM ID:602354 | OMIM ID:617514 | severe combined immunodeficiency due to LAT deficiency | IMMUNODEFICIENCY 52 | DOID:0111983 | immunodeficiency 52 | MONDO:0044721 +BMGC_DS16508,BMG_DS062955,MONDO:0054591 | STANKIEWICZ-ISIDOR SYNDROME | UMLS ID:C4479599 | OMIM ID:604450 | Stankiewicz-Isidor syndrome | OMIM ID:617516 +BMGC_DS16509,BMG_DS062956,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS | neurodevelopmental disorder with hypotonia, neuropathy, and deafness | UMLS ID:C4479603 | OMIM ID:606214 | MONDO:0060496 | OMIM ID:617519" +BMGC_DS16510,BMG_DS062957,"OMIM ID:617485 | OMIM ID:617520 | DOID:0070295 | microcephaly 18, primary, autosomal dominant | MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT | MONDO:0054593 | UMLS ID:C4479608 | primary autosomal dominant microcephaly 18" +BMGC_DS16511,BMG_DS062958,OMIM ID:607560 | UMLS ID:C4479613 | neurodevelopmental disorder with midbrain and hindbrain malformations | OMIM ID:617523 | NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS | MONDO:0056797 | DOID:0080312 +BMGC_DS16512,BMG_DS062959,erythrokeratodermia variabilis et progressiva 2 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 | UMLS ID:C4479618 | MONDO:0033012 | DOID:0080248 | OMIM ID:605425 | OMIM ID:617524 +BMGC_DS16513,BMG_DS062960,OMIM ID:121014 | DOID:0080249 | UMLS ID:C4479619 | erythrokeratodermia variabilis et progressiva 3 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 | OMIM ID:617525 | MONDO:0033013 +BMGC_DS16514,BMG_DS062961,MONDO:0033014 | OMIM ID:617526 | UMLS ID:C4479620 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 | DOID:0080250 | erythrokeratodermia variabilis et progressiva 4 | OMIM ID:136440 +BMGC_DS16515,BMG_DS062962,"SNOMEDCT ID:1217367007 | PLAA-associated neurodevelopmental disorder | Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | UMLS ID:C4479631 | Phospholipase A2 activating protein-associated neurodevelopmental disorder | MONDO:0060502 | PLAAND - phospholipase A2 activating protein-associated neurodevelopmental disorder | OMIM ID:617527" +BMGC_DS16516,BMG_DS062963,UMLS ID:C4479636 | OMIM ID:605763 | MONDO:0044322 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES | intellectual developmental disorder with neuropsychiatric features | OMIM ID:617532 +BMGC_DS16517,BMG_DS062964,"UMLS ID:C4479637 | 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 | Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation | MONDO:0044323 | SNOMEDCT ID:1304277005 | OMIM ID:617537 | Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder)" +BMGC_DS16518,BMG_DS062965,"OMIM ID:617542 | UMLS ID:C4479640 | OMIM ID:120470 | MONDO:0054602 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | gaze palsy, familial horizontal, with progressive scoliosis, 2" +BMGC_DS16519,BMG_DS062967,retinal dystrophy with or without macular staphyloma | RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA | MONDO:0060507 | UMLS ID:C4479651 | OMIM ID:617547 +BMGC_DS16520,BMG_DS062968,Gabriele-de Vries syndrome | YY1 haploinsufficiency syndrome | UMLS ID:C4479652 | SNOMEDCT ID:1186730002 | Gabriele-de Vries syndrome (disorder) | OMIM ID:617557 | MONDO:0044738 | Gabriele de Vries syndrome +BMGC_DS16521,BMG_DS062969,"SNOMEDCT ID:1217379007 | OMIM ID:617560 | SPAX8 - spastic ataxia 8 | NKX6-2-related autosomal recessive hypomyelinating leucodystrophy | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | Autosomal recessive hypomyelinating leukodystrophy, progressive spastic ataxia | MONDO:0033043 | NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy | UMLS ID:C4479653 | Autosomal recessive hypomyelinating leucodystrophy, progressive spastic ataxia | NK6 homeobox 2-related autosomal recessive hypomyelinating leucodystrophy | NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" +BMGC_DS16522,BMG_DS062970,MONDO:0060510 | OMIM ID:605984 | UMLS ID:C4479654 | COHEN-GIBSON SYNDROME | Cohen-Gibson syndrome | OMIM ID:617561 +BMGC_DS16523,BMG_DS062971,Meier-Gorlin syndrome 8 | OMIM ID:617564 | MEIER-GORLIN SYNDROME 8 | DOID:0080255 | UMLS ID:C4479655 | MONDO:0033046 | OMIM ID:602696 +BMGC_DS16524,BMG_DS062972,OMIM ID:617565 | MONDO:0033047 | PERRAULT SYNDROME 6 | UMLS ID:C4479656 | DOID:0080256 | Perrault syndrome 6 | OMIM ID:607435 +BMGC_DS16525,BMG_DS062975,"UMLS ID:C4479659 | OMIM ID:107741 | HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2" +BMGC_DS16526,BMG_DS062976,"ADRENAL INSUFFICIENCY, NR5A1-RELATED | primary ovarian insufficiency 7 | DOID:0080864 | OMIM ID:612964 | OMIM ID:184757 | UMLS ID:C4479664" +BMGC_DS16527,BMG_DS063000,MeSH ID:D000073376 | MONDO:0015650 | epilepsy syndrome | Epileptic Syndromes | UMLS ID:C4505072 +BMGC_DS16528,BMG_DS063011,"OMIM ID:300679 | Xp21 Contiguous Gene Deletion Syndrome | chromosome Xp21 deletion syndrome | MeSH ID:D000075262 | Hypoadrenocorticism, Familial | UMLS ID:C4505291 | MONDO:0010399" +BMGC_DS16529,BMG_DS063016,UMLS ID:C4505353 | Diverticular Diseases | MeSH ID:D000076385 | Diverticular Bleeding +BMGC_DS16530,BMG_DS063019,"MeSH ID:D011019 | UMLS ID:C4505422 | Pneumonia, Mycoplasma | Mycoplasma ovipneumoniae Infection | Mycoplasma pneumoniae pneumonia | DOID:13276" +BMGC_DS16531,BMG_DS063020,"MeSH ID:D011019 | Mycoplasma dispar Infection | Pneumonia, Mycoplasma | UMLS ID:C4505423 | Mycoplasma pneumoniae pneumonia | DOID:13276" +BMGC_DS16532,BMG_DS063025,UMLS ID:C4505436 | Seizures | Generalized Absence Seizures | MeSH ID:D012640 +BMGC_DS16533,BMG_DS063026,MeSH ID:D014005 | Tinea | Trichophyton mentagrophytes Infection | UMLS ID:C4505442 +BMGC_DS16534,BMG_DS063027,HIV Infections | UMLS ID:C4505456 | HIV Coinfection | MeSH ID:D015658 +BMGC_DS16535,BMG_DS063036,"UMLS ID:C4505492 | MeSH ID:D056487 | Chemical and Drug Induced Liver Injury, Chronic" +BMGC_DS16536,BMG_DS063037,"UMLS ID:C4505493 | MeSH ID:D056487 | Chemical-Induced Liver Injury, Chronic | Chemical and Drug Induced Liver Injury, Chronic" +BMGC_DS16537,BMG_DS063041,isolated bone marrow mastocytosis | UMLS ID:C4509020 | MONDO:0015558 +BMGC_DS16538,BMG_DS063044,ICD10 ID:E85.82 | Senile systemic amyloidosis (SSA) | UMLS ID:C4509024 | transthyretin amyloidosis | DOID:0050638 +BMGC_DS16539,BMG_DS063137,ICD10 ID:K90.0 | UMLS ID:C4509268 | Celiac gluten-sensitive enteropathy | Coeliac disease | ICD11 ID:DA95 +BMGC_DS16540,BMG_DS063276,UMLS ID:C4509816 | MONDO:0056806 | non-small cell squamous lung carcinoma +BMGC_DS16541,BMG_DS063279,UMLS ID:C4509819 | ECO (endocrine-cerebro-osteodysplasia) syndrome | Endocrine cerebroosteodysplasia syndrome | SNOMEDCT ID:723309006 | Endocrine-cerebro-osteodysplasia syndrome (disorder) | Endocrine-cerebro-osteodysplasia syndrome | ECO syndrome +BMGC_DS16542,BMG_DS063280,SNOMEDCT ID:723334006 | FADD (FAS-associated protein with death domain) related immunodeficiency | Immunodeficiency due to mutation of FAS-associated protein with death domain gene (disorder) | FADD-related immunodeficiency | UMLS ID:C4509831 | Immunodeficiency due to mutation of FAS-associated protein with death domain gene +BMGC_DS16543,BMG_DS063281,UMLS ID:C4509836 | Recurrent acute necrotising encephalopathy | Recurrent acute necrotizing encephalopathy | Familial acute necrotising encephalopathy | Familial acute necrotizing encephalopathy | SNOMEDCT ID:723359002 | Familial acute necrotizing encephalopathy (disorder) +BMGC_DS16544,BMG_DS063285,Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder) | SNOMEDCT ID:723384004 | UMLS ID:C4509853 | Mendelian susceptibility to mycobacterial disease due to complete ISG15 (interferon stimulated gene 15) deficiency | Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency | Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency +BMGC_DS16545,BMG_DS063286,Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency | SNOMEDCT ID:723385003 | Mendelian susceptibility to mycobacterial disease due to partial IRF8 (interferon regulatory factor 8) deficiency | Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency | Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) | UMLS ID:C4509854 +BMGC_DS16546,BMG_DS063287,SNOMEDCT ID:723386002 | 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 STAT1 deficiency | UMLS ID:C4509855 | 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 (signal transducer and activator of transcription 1) deficiency +BMGC_DS16547,BMG_DS063292,Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | Microcephalic osteodysplastic dysplasia Saul Wilson type | SNOMEDCT ID:723404002 | UMLS ID:C4509877 +BMGC_DS16548,BMG_DS063295,Selcen muscular dystrophy | UMLS ID:C4509880 | SNOMEDCT ID:723407009 | Muscular dystrophy Selcen type (disorder) | Muscular dystrophy Selcen type +BMGC_DS16549,BMG_DS063296,Multifocal pattern dystrophy simulating Stargardt disease | UMLS ID:C4509881 | SNOMEDCT ID:723408004 | MONDO:0020382 | Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus | Multifocal pattern dystrophy simulating fundus flavimaculatus | multifocal pattern dystrophy simulating fundus flavimaculatus | Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder) +BMGC_DS16550,BMG_DS063308,Non-progressive cerebellar ataxia with intellectual disability | UMLS ID:C4509917 | Non-progressive cerebellar ataxia with intellectual disability (disorder) | SNOMEDCT ID:723441001 +BMGC_DS16551,BMG_DS063309,UMLS ID:C4509918 | Polyvalvular heart disease syndrome (disorder) | SNOMEDCT ID:723448007 | polyvalvular heart disease syndrome | MONDO:0016460 | Polyvalvular heart disease syndrome +BMGC_DS16552,BMG_DS063311,"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome | PHARC syndrome | SNOMEDCT ID:723452007 | PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome | Peripheral neuropathy Fiskerstrand type | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | UMLS ID:C4509920" +BMGC_DS16553,BMG_DS063315,UMLS ID:C4509932 | NK-cell enteropathy | MONDO:0016996 +BMGC_DS16554,BMG_DS063316,Peripheral neuropathy with sensorineural hearing impairment syndrome | MONDO:0015351 | UMLS ID:C4509933 | neuropathy with hearing impairment | SNOMEDCT ID:723497003 | Neuropathy with hearing impairment | Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) +BMGC_DS16555,BMG_DS063321,Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | UMLS ID:C4509953 | Terminal osseous dysplasia and pigmentary defect syndrome | SNOMEDCT ID:723578001 +BMGC_DS16556,BMG_DS063335,SNOMEDCT ID:723716009 | Severe generalised recessive dystrophic epidermolysis bullosa | UMLS ID:C4510043 | Autosomal recessive dystrophic epidermolysis bullosa Hallopeau Siemens type | Severe generalized recessive dystrophic epidermolysis bullosa (disorder) | Severe generalized recessive dystrophic epidermolysis bullosa | Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis +BMGC_DS16557,BMG_DS063358,Idiopathic ventricular fibrillation not Brugada type | SNOMEDCT ID:723866006 | UMLS ID:C4510132 | Idiopathic ventricular fibrillation not Brugada type (disorder) +BMGC_DS16558,BMG_DS063368,Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) | SNOMEDCT ID:723993005 | UMLS ID:C4510220 | Sensorineural deafness with dilated cardiomyopathy syndrome +BMGC_DS16559,BMG_DS063389,"SNOMEDCT ID:724094005 | 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)" +BMGC_DS16560,BMG_DS063390,Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload | SNOMEDCT ID:724095006 | Myopathy due to calsequestrin and SERCA1 protein overload | Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder) | UMLS ID:C4510368 | Myopathy due to calsequestrin and SERCA1 (sarcoplasmic/endoplasmic reticulum calcium ATPase 1) protein overload +BMGC_DS16561,BMG_DS063393,Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency | Microcephalic primordial dwarfism due to ZNF335 deficiency | Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Microcephalic primordial dwarfism Walsh type | SNOMEDCT ID:724141003 | Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency | UMLS ID:C4510378 +BMGC_DS16562,BMG_DS063395,"UMLS ID:C4510380 | Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome | SNOMEDCT ID:724145007" +BMGC_DS16563,BMG_DS063396,SNOMEDCT ID:724172004 | X-linked McLeod syndrome | McLeod neuroacanthocytosis syndrome (disorder) | McLeod neuroacanthocytosis syndrome | UMLS ID:C4510408 +BMGC_DS16564,BMG_DS063398,Laron-like syndrome | Short stature due to STAT5b (signal transducer and activator of transcription 5b) deficiency | Laron syndrome with immunodeficiency | UMLS ID:C4510411 | Laron syndrome with immunodeficiency (disorder) | SNOMEDCT ID:724179008 +BMGC_DS16565,BMG_DS063422,"Congenital ichthyosis with hypotrichosis syndrome | Congenital ichthyosis with hypotrichosis syndrome (disorder) | UMLS ID:C4510566 | SNOMEDCT ID:724277002 | Ichthyosis, follicular atrophoderma, hypotrichosis syndrome" +BMGC_DS16566,BMG_DS063423,"hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | MONDO:0016393 | Bosma Henkin Christiansen syndrome | SNOMEDCT ID:724281002 | Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome | UMLS ID:C4510568 | Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)" +BMGC_DS16567,BMG_DS063428,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | UMLS ID:C4510605 | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) | SNOMEDCT ID:724344004 +BMGC_DS16568,BMG_DS063429,"Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) | Hereditary inclusion body myopathy type 3 | UMLS ID:C4510610 | Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome | MONDO:0019195 | SNOMEDCT ID:724349009 | hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | Inclusion body myopathy type 3" +BMGC_DS16569,BMG_DS063432,"SNOMEDCT ID:724356003 | Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) | congenital vitamin K-dependent coagulation factors deficiency | Hereditary combined deficiency of factors II, VII, IX and X | DOID:0112172 | Hereditary combined deficiency of vitamin K-dependent clotting factors | UMLS ID:C4510617 | MONDO:0015722 | hereditary combined deficiency of vitamin K-dependent clotting factors" +BMGC_DS16570,BMG_DS063433,"UMLS ID:C4510630 | VODI (veno-occlusive disease, immunodeficiency) syndrome | Hepatic veno-occlusive disease with immunodeficiency syndrome | Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | SNOMEDCT ID:724361001 | VODI syndrome" +BMGC_DS16571,BMG_DS063442,Pneumonia caused by Chlamydia pneumoniae | UMLS ID:C4510691 | Pneumonia caused by Chlamydia pneumoniae (disorder) | SNOMEDCT ID:724498004 +BMGC_DS16572,BMG_DS063456,SNOMEDCT ID:725029001 | UMLS ID:C4510728 | ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly | Frontonasal dysplasia with alopecia and genital abnomality | Frontonasal dysplasia with alopecia and genital anomaly syndrome | Craniofrontonasal dysplasia with alopecia and hypogonadism | Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) +BMGC_DS16573,BMG_DS063461,"MONDO:0016674 | SNOMEDCT ID:725045004 | 46,XY partial gonadal dysgenesis | 46,XY partial gonadal dysgenesis (disorder) | UMLS ID:C4510744" +BMGC_DS16574,BMG_DS063463,SNOMEDCT ID:725027004 | UMLS ID:C4510752 | Glycogenosis due to muscle and heart glycogen synthase deficiency | Muscle and heart glycogen synthase deficiency | Muscle and heart glycogen synthase deficiency (disorder) | Glycogenosis type 0b | Glycogen storage disease type 0b | Glycogen storage disease due to muscle and heart glycogen synthase deficiency +BMGC_DS16575,BMG_DS063464,Glycogen storage disease due to hepatic glycogen synthase deficiency | Hepatic glycogen synthase deficiency | Glycogenosis type 0a | Glycogen storage disease due to liver glycogen synthase deficiency | SNOMEDCT ID:725026008 | UMLS ID:C4510753 | Glycogen storage disease type 0a | Hepatic glycogen synthase deficiency (disorder) +BMGC_DS16576,BMG_DS063467,UMLS ID:C4510764 | SNOMEDCT ID:724226009 | Infantile osteopetrosis with neuroaxonal dysplasia syndrome | Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | Infantile osteopetrosis with neuroaxonal dysplasia +BMGC_DS16577,BMG_DS063484,"MONDO:0010014 | UMLS ID:C4510809 | OMIM ID:269300 | craniometadiaphyseal dysplasia, wormian bone type | Craniometadiaphyseal dysplasia wormian bone type | Craniometadiaphyseal dysplasia wormian bone type (disorder) | SNOMEDCT ID:725099009" +BMGC_DS16578,BMG_DS063486,Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) | UMLS ID:C4510815 | 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 CD3-gamma deficiency | Combined immunodeficiency due to CD3gamma deficiency | UMLS ID:C4510864 | SNOMEDCT ID:725135004 | Combined immunodeficiency due to CD3gamma deficiency (disorder) +BMGC_DS16580,BMG_DS063518,"SNOMEDCT ID:725145002 | Atrial septal defect, atrioventricular conduction defect syndrome (disorder) | UMLS ID:C4510872 | Atrial septal defect, atrioventricular conduction defect syndrome" +BMGC_DS16581,BMG_DS063519,Atypical juvenile parkinsonism (disorder) | atypical juvenile parkinsonism | MONDO:0018321 | Atypical juvenile parkinsonism | SNOMEDCT ID:725146001 | UMLS ID:C4510873 +BMGC_DS16582,BMG_DS063521,autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | UMLS ID:C4510875 | MONDO:0017903 | 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 IFNgammaR2 deficiency | SNOMEDCT ID:725151007 | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency +BMGC_DS16583,BMG_DS063523,Omodysplasia | Omodysplasia (disorder) | SNOMEDCT ID:725164008 | omodysplasia | MONDO:0017136 | UMLS ID:C4510897 | DOID:0060288 +BMGC_DS16584,BMG_DS063527,UMLS ID:C4510940 | 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency | Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) | 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,SNOMEDCT ID:725290000 | Combined immunodeficiency due to partial recombination-activating gene 1 deficiency | Combined immunodeficiency with expansion of gamma delta T cell | Combined immunodeficiency due to partial RAG1 deficiency | Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder) | UMLS ID:C4510944 +BMGC_DS16586,BMG_DS063530,UMLS ID:C4510945 | P2Y12 defect | ADP platelet receptor P2Y12 defect | P2Y12 (purinergic receptor p2y G protein-coupled 12) defect | SNOMEDCT ID:725291001 | Defect of purinergic receptor p2y G protein-coupled 12 (disorder) | Defect of purinergic receptor p2y G protein-coupled 12 +BMGC_DS16587,BMG_DS063532,"X-linked spasticity, intellectual disability, epilepsy syndrome | UMLS ID:C4510949 | X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) | MONDO:0017856 | SNOMEDCT ID:725163002 | X-linked spasticity-intellectual disability-epilepsy syndrome" +BMGC_DS16588,BMG_DS063540,Puberty disorder due to estrogen resistance | Oestrogen resistance syndrome | Puberty disorder due to estrogen resistance (disorder) | Estrogen resistance syndrome | UMLS ID:C4510972 | Puberty disorder due to oestrogen resistance | SNOMEDCT ID:724555000 +BMGC_DS16589,BMG_DS063553,DOID:0070630 | MONDO:0018256 | acute myeloid leukemia with t(8;16)(p11;p13) translocation | acute myeloid leukemia with KAT6A-CREBBP fusion | UMLS ID:C4511003 +BMGC_DS16590,BMG_DS063554,Autosomal dominant striatal neurodegeneration (disorder) | SNOMEDCT ID:725392005 | UMLS ID:C4511004 | Autosomal dominant striatal neurodegeneration | ADSD - autosomal dominant striatal neurodegeneration +BMGC_DS16591,BMG_DS063566,SNOMEDCT ID:725407006 | MONDO:0019522 | UMLS ID:C4511044 | recessive dystrophic epidermolysis bullosa-generalized other | RDEB-O - recessive dystrophic epidermolysis bullosa-generalised other | 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 +BMGC_DS16592,BMG_DS063576,"congenital myopathy, Paradas type | SNOMEDCT ID:725420009 | UMLS ID:C4511057 | Congenital myopathy Paradas type | Congenital muscular dystrophy Paradas type | MONDO:0016049 | Congenital muscular dystrophy Paradas type (disorder)" +BMGC_DS16593,BMG_DS063577,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 interferon gamma receptor 1 deficiency (disorder) | UMLS ID:C4511091 | SNOMEDCT ID:725431001 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR1 deficiency | MONDO:0017901 | autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency +BMGC_DS16594,BMG_DS063578,SNOMEDCT ID:725150008 | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial IFNgammaR1 deficiency | UMLS ID:C4511097 | 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 interferon gamma receptor 1 deficiency (disorder) +BMGC_DS16595,BMG_DS063579,Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) | UMLS ID:C4511098 | MONDO:0017902 | autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | 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 +BMGC_DS16596,BMG_DS063580,UMLS ID:C4511137 | Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Severe congenital hypochromic anaemia with ringed sideroblasts | Severe congenital hypochromic sideroblastic anemia | Severe congenital hypochromic sideroblastic anaemia | Severe congenital hypochromic anemia with ringed sideroblasts | SNOMEDCT ID:725463007 +BMGC_DS16597,BMG_DS063581,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) | Adult-onset CPEO (chronic progressive external ophthalmoplegia) with mitochondrial myopathy | MONDO:0018002 | UMLS ID:C4511138 | adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | SNOMEDCT ID:725464001 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy +BMGC_DS16598,BMG_DS063586,UMLS ID:C4511230 | Bathing suit ichthyosis | MONDO:0015085 | SNOMEDCT ID:725588002 | bathing suit ichthyosis | Bathing suit ichthyosis (disorder) +BMGC_DS16599,BMG_DS063593,Butterfly-shaped pigmentary macular dystrophy | MONDO:0100466 | butterfly-shaped pigment dystrophy | UMLS ID:C4511237 | Butterfly-shaped pattern dystrophy | Butterfly-shaped pigmentary macular dystrophy (disorder) | Butterfly-shaped pigment dystrophy | SNOMEDCT ID:725590001 +BMGC_DS16600,BMG_DS063595,congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization | UMLS ID:C4511239 | MONDO:0019068 | Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation | Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder) | SNOMEDCT ID:725592009 | Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization +BMGC_DS16601,BMG_DS063647,"Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency | Muscular dystrophy with progressive weakness, distal contracture and rigid spine | autosomal recessive limb-girdle muscular dystrophy type 2Y | MONDO:0014900 | OMIM ID:617072 | UMLS ID:C4511482 | SNOMEDCT ID:725907002 | Autosomal recessive muscular dystrophy due to LAP1B (lamin-associated protein 1B) deficiency | Autosomal recessive limb girdle muscular dystrophy type 2Y | Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)" +BMGC_DS16602,BMG_DS063654,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | UMLS ID:C4511528 | Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | Renal hypomagnesemia type 3 | Renal hypomagnesaemia type 3 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) | SNOMEDCT ID:725033008 +BMGC_DS16603,BMG_DS063662,Cannabis hyperemesis syndrome co-occurrent and due to cannabis abuse | SNOMEDCT ID:11047881000119101 | Cannabis hyperemesis syndrome co-occurrent and due to cannabis abuse (disorder) | UMLS ID:C4511590 +BMGC_DS16604,BMG_DS063663,UMLS ID:C4511594 | Cannabis hyperemesis syndrome co-occurrent and due to cannabis dependence (disorder) | SNOMEDCT ID:11048011000119103 | Cannabis hyperemesis syndrome co-occurrent and due to cannabis dependence +BMGC_DS16605,BMG_DS063668,UMLS ID:C4511620 | Autosomal dominant medullary cystic kidney disease | MONDO:0008264 | autosomal dominant medullary cystic kidney disease with or without hyperuricemia | Autosomal dominant tubulointerstitial kidney disease (disorder) | Autosomal dominant tubulointerstitial kidney disease | SNOMEDCT ID:726018006 +BMGC_DS16606,BMG_DS063672,"UMLS ID:C4511633 | SCAR5 - spinocerebellar ataxia autosomal recessive 5 | Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome | CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome | Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) | OMIM ID:606937 | SNOMEDCT ID:726031001 | MONDO:0019374 | CAMOS syndrome" +BMGC_DS16607,BMG_DS063675,Hereditary hypercarotenemia and vitamin A deficiency (disorder) | SNOMEDCT ID:726079008 | Hereditary hypercarotenaemia and vitamin A deficiency | Hereditary hypercarotenemia and vitamin A deficiency | UMLS ID:C4511672 +BMGC_DS16608,BMG_DS063677,"X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | X-linked diffuse leiomyomatosis with Alport syndrome | X-linked diffuse leiomyomatosis, Alport syndrome | UMLS ID:C4511693 | SNOMEDCT ID:726106004" +BMGC_DS16609,BMG_DS063717,autosomal recessive limb-girdle muscular dystrophy type 2P | SNOMEDCT ID:726614009 | Autosomal recessive limb girdle muscular dystrophy type 2P | UMLS ID:C4511963 | OMIM ID:613818 | MONDO:0013440 | Autosomal recessive limb girdle muscular dystrophy type 2P (disorder) +BMGC_DS16610,BMG_DS063719,Spastic paraplegia with Paget disease of bone syndrome | SNOMEDCT ID:726622002 | spastic paraplegia-Paget disease of bone syndrome | UMLS ID:C4511969 | MONDO:0018005 | Spastic paraplegia with Paget disease of bone syndrome (disorder) +BMGC_DS16611,BMG_DS063723,"Yoshimura Takeshita syndrome | MONDO:0017924 | UMLS ID:C4512024 | Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | SNOMEDCT ID:726669007 | central nervous system calcification-deafness-tubular acidosis-anemia syndrome | Central nervous system calcification, deafness, tubular acidosis, anemia syndrome | Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome" +BMGC_DS16612,BMG_DS063728,UMLS ID:C4512050 | Mitochondrial aspartate-glutamate carrier 1 deficiency | Epileptic encephalopathy with global cerebral demyelination (disorder) | Epileptic encephalopathy with global cerebral demyelination | SNOMEDCT ID:726702005 +BMGC_DS16613,BMG_DS063733,"SNOMEDCT ID:726732002 | X-linked intellectual disability, nail dystrophy, seizures syndrome | X-linked intellectual disability Nascimento type (disorder) | X-linked intellectual disability Nascimento type | UMLS ID:C4512071" +BMGC_DS16614,BMG_DS063740,"SNOMEDCT ID:732246009 | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome | X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) | 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 | MONDO:0018495" +BMGC_DS16615,BMG_DS063747,neurodegeneration with brain iron accumulation 6 | CoPAN - coenzyme A synthase protein associated neurodegeneration | Coenzyme A synthase protein associated neurodegeneration | MONDO:0014290 | COASY protein-associated neurodegeneration | Coenzyme A synthase protein associated neurodegeneration (disorder) | Neurodegeneration with brain iron accumulation due to COASY mutation | UMLS ID:C4517377 | OMIM ID:615643 | SNOMEDCT ID:732264002 +BMGC_DS16616,BMG_DS063751,Autosomal recessive limb girdle muscular dystrophy type 2S (disorder) | SNOMEDCT ID:732929002 | autosomal recessive limb-girdle muscular dystrophy type R18 | OMIM ID:615356 | MONDO:0014144 | UMLS ID:C4517996 | Autosomal recessive limb girdle muscular dystrophy type 2S +BMGC_DS16617,BMG_DS063752,Autosomal recessive limb girdle muscular dystrophy type 2T (disorder) | OMIM ID:615352 | SNOMEDCT ID:732930007 | MONDO:0014142 | autosomal recessive limb-girdle muscular dystrophy type 2T | Autosomal recessive limb girdle muscular dystrophy type 2T | UMLS ID:C4518000 +BMGC_DS16618,BMG_DS063759,"Autism spectrum disorder, epilepsy, arthrogryposis syndrome | SNOMEDCT ID:733623005 | SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation | Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | UMLS ID:C4518080" +BMGC_DS16619,BMG_DS063766,Acral dystrophic epidermolysis bullosa (disorder) | UMLS ID:C4518087 | SNOMEDCT ID:733638006 | Acral DEB (dystrophic epidermolysis bullosa) | MONDO:0015552 | acral dystrophic epidermolysis bullosa | Acral dystrophic epidermolysis bullosa +BMGC_DS16620,BMG_DS063814,SNOMEDCT ID:724275005 | Primary immunodeficiency due to MCM4 (mini-chromosome maintenance complex component 4) deficiency | Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) | Primary immunodeficiency due to MCM4 deficiency | UMLS ID:C4518328 | Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency +BMGC_DS16621,BMG_DS063815,"Moyamoya disease, short stature, facial dysmorphism, hypergonadotropic hypogonadism | SNOMEDCT ID:724097003 | Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome | UMLS ID:C4518329 | Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)" +BMGC_DS16622,BMG_DS063817,UMLS ID:C4518333 | clear cell papillary renal cell carcinoma | MONDO:0018448 +BMGC_DS16623,BMG_DS063820,MONDO:0014475 | SNOMEDCT ID:734020000 | OMIM ID:616053 | Spinocerebellar ataxia type 40 (disorder) | UMLS ID:C4518336 | spinocerebellar ataxia type 40 | Spinocerebellar ataxia type 40 +BMGC_DS16624,BMG_DS063821,spinocerebellar ataxia type 38 | MONDO:0014417 | OMIM ID:615957 | UMLS ID:C4518337 | SNOMEDCT ID:734021001 | Spinocerebellar ataxia type 38 | Spinocerebellar ataxia type 38 (disorder) +BMGC_DS16625,BMG_DS063822,Wolfram-like syndrome (disorder) | UMLS ID:C4518338 | SNOMEDCT ID:734022008 | Wolfram-like syndrome +BMGC_DS16626,BMG_DS063825,UMLS ID:C4518341 | MONDO:0010649 | isolated congenital megalocornea | OMIM ID:309300 +BMGC_DS16627,BMG_DS063827,UMLS ID:C4518343 | Distal monosomy 22q11.2 | SNOMEDCT ID:734029004 | Distal 22q11.2 microdeletion syndrome (disorder) | Distal 22q11.2 microdeletion syndrome +BMGC_DS16628,BMG_DS063828,12q15q21.1 microdeletion syndrome (disorder) | 12q15q21.1 microdeletion syndrome | Monosomy 12q15q21.1 | MONDO:0017334 | SNOMEDCT ID:734030009 | Deletion 12q15q21.1 | UMLS ID:C4518344 +BMGC_DS16629,BMG_DS063830,UMLS ID:C4518356 | MONDO:0017886 | MIT family translocation renal cell carcinoma +BMGC_DS16630,BMG_DS063883,Early-onset Lafora body disease (disorder) | SNOMEDCT ID:733082001 | UMLS ID:C4518574 | Early-onset Lafora body disease +BMGC_DS16631,BMG_DS063924,SNOMEDCT ID:733195008 | MONDO:0100025 | UMLS ID:C4518639 | Epilepsy of infancy with migrating focal seizures | epilepsy of infancy with migrating focal seizures | Epilepsy of infancy with migrating focal seizures (disorder) | OMIM ID:MTHU071843 +BMGC_DS16632,BMG_DS063944,Noninfectious panuveitis | UMLS ID:C4518725 | SNOMEDCT ID:733337008 | Noninfectious panuveitis (disorder) +BMGC_DS16633,BMG_DS063949,Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder) | MONDO:0018342 | SNOMEDCT ID:733418003 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | UMLS ID:C4518774 | Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy) +BMGC_DS16634,BMG_DS063951,Prion protein systemic amyloidosis (disorder) | SNOMEDCT ID:733422008 | Chronic diarrhea with hereditary sensory and autonomic neuropathy | MONDO:0018339 | UMLS ID:C4518776 | Prion protein systemic amyloidosis | PrP (prion protein) systemic amyloidosis | Chronic diarrhoea with hereditary sensory and autonomic neuropathy | PrP systemic amyloidosis +BMGC_DS16635,BMG_DS063952,intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency | SNOMEDCT ID:733447005 | Meconium ileus due to guanylate cyclase 2C deficiency | OMIM ID:614665 | Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency (disorder) | MONDO:0013843 | UMLS ID:C4518781 +BMGC_DS16636,BMG_DS063954,SNOMEDCT ID:733450008 | Congenital disorder of glycosylation type II due to MAN1B1 deficiency | MAN1B1-CDG - mannosidase alpha class 1B member 1 deficiency congenital disorder of glycosylation | Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency | MONDO:0018349 | Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 | MAN1B1-congenital disorder of glycosylation | UMLS ID:C4518783 | Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder) +BMGC_DS16637,BMG_DS063955,"UMLS ID:C4518784 | Leucoencephalopathy, dystonia, motor neuropathy syndrome | Leukoencephalopathy, dystonia, motor neuropathy syndrome | Leukoencephalopathy, dystonia, motor neuropathy syndrome (disorder) | SNOMEDCT ID:733452000" +BMGC_DS16638,BMG_DS063956,"Congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome | UMLS ID:C4518785 | MONDO:0013881 | epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | OMIM ID:614748 | Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder) | SNOMEDCT ID:733453005 | Congenital ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome | Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome" +BMGC_DS16639,BMG_DS063958,MONDO:0016470 | Ehlers-Danlos and osteogenesis imperfecta syndrome (disorder) | UMLS ID:C4518787 | SNOMEDCT ID:733457006 | Ehlers-Danlos/osteogenesis imperfecta syndrome | Ehlers-Danlos and osteogenesis imperfecta syndrome +BMGC_DS16640,BMG_DS063964,Distal ABD-filaminopathy | Distal myopathy with posterior leg and anterior hand involvement (disorder) | UMLS ID:C4518807 | Distal myopathy with posterior leg and anterior hand involvement | SNOMEDCT ID:733489002 +BMGC_DS16641,BMG_DS063967,UMLS ID:C4518822 | SNOMEDCT ID:733519008 | Monosomy 17q12 | 17q12 microdeletion syndrome (disorder) | 17q12 microdeletion syndrome +BMGC_DS16642,BMG_DS063969,"Distal monosomy 16p11.2 | chromosome 16p11.2 deletion syndrome, 220-kb | Distal 16p11.2 microdeletion syndrome (disorder) | Distal 16p11.2 microdeletion syndrome | SNOMEDCT ID:733521003 | DOID:0060398 | UMLS ID:C4518824" +BMGC_DS16643,BMG_DS063971,UMLS ID:C4518837 | MONDO:0018433 | acute myeloid leukemia with t(6;9)(p23;q34) +BMGC_DS16644,BMG_DS063972,Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency | Adult-onset multiple mitochondrial DNA (deoxyribonucleic acid) deletion syndrome due to DGUOK (deoxyguanosine kinase) deficiency | SNOMEDCT ID:733599009 | 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 (disorder) +BMGC_DS16645,BMG_DS063973,MONDO:0013570 | SNOMEDCT ID:733600007 | combined oxidative phosphorylation defect type 8 | UMLS ID:C4518839 | OMIM ID:614096 | Combined oxidative phosphorylation defect type 8 (disorder) | Combined oxidative phosphorylation defect type 8 | COXPD8 - combined oxidative phosphorylation defect type 8 +BMGC_DS16646,BMG_DS064121,erythroleukemia | UMLS ID:C4520840 | MONDO:0859598 +BMGC_DS16647,BMG_DS064123,MONDO:0008975 | Otospondylomegaepiphyseal dysplasia | UMLS ID:C4520892 | Otospondylomegaepiphyseal dysplasia (disorder) | SNOMEDCT ID:254060000 | otospondylomegaepiphyseal dysplasia +BMGC_DS16648,BMG_DS064125,basal ganglia disorder | MONDO:0003996 | UMLS ID:C4520981 +BMGC_DS16649,BMG_DS064126,MONDO:0100285 | extrahepatic biliary atresia | UMLS ID:C4520983 | OMIM ID:210500 +BMGC_DS16650,BMG_DS064127,Juvenile polyarthritis | polyarticular juvenile idiopathic arthritis | UMLS ID:C4521004 | MONDO:0018456 | OMIM ID:MTHU056867 +BMGC_DS16651,BMG_DS064129,DOID:0112009 | UMLS ID:C4521132 | pituitary adenoma 1 | OMIM ID:102200 | ACROMEGALY DUE TO PITUITARY ADENOMA 1 +BMGC_DS16652,BMG_DS064134,SPINOCEREBELLAR ATAXIA 44 | OMIM ID:604473 | OMIM ID:617691 | MONDO:0033479 | DOID:0080286 | spinocerebellar ataxia 44 | UMLS ID:C4521563 +BMGC_DS16653,BMG_DS064135,"FANCONI ANEMIA, COMPLEMENTATION GROUP W | MONDO:0044325 | Fanconi anemia complementation group W | DOID:0060978 | UMLS ID:C4521564 | Fanconi anemia, complementation group W | OMIM ID:614151 | OMIM ID:617784" +BMGC_DS16654,BMG_DS064136,auditory neuropathy-optic atrophy syndrome | MONDO:0060582 | OMIM ID:617717 | OMIM ID:103270 | UMLS ID:C4521678 | AUDITORY NEUROPATHY AND OPTIC ATROPHY +BMGC_DS16655,BMG_DS064137,"DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION | autosomal dominant nonsyndromic deafness 34 | UMLS ID:C4521680 | DOID:0080270 | OMIM ID:617772 | OMIM ID:606416 | hearing loss, autosomal dominant 34, with or without inflammation | MONDO:0033261" +BMGC_DS16656,BMG_DS064140,HELIX syndrome | OMIM ID:617579 | UMLS ID:C4522164 | HELIX SYNDROME | OMIM ID:617671 | MONDO:0060564 +BMGC_DS16657,BMG_DS064151,MONDO:0018813 | UMLS ID:C4524190 | high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement +BMGC_DS16658,BMG_DS064158,UMLS ID:C4528210 | MONDO:0850112 | breast implant-associated anaplastic large cell lymphoma +BMGC_DS16659,BMG_DS064166,UMLS ID:C4538355 | growth hormone secreting pituitary adenoma 1 | OMIM ID:102200 | MONDO:0007052 +BMGC_DS16660,BMG_DS064168,"UMLS ID:C4538468 | OMIM ID:617828 | Marsili syndrome | indifference to pain, congenital, autosomal dominant | MARSILI SYNDROME | MONDO:0007828 | OMIM ID:147430 | DOID:0081075" +BMGC_DS16661,BMG_DS064169,"SYRINGOMYELIA, NONCOMMUNICATING ISOLATED | MONDO:0008525 | UMLS ID:C4538540 | OMIM ID:186700 | syringomyelia, isolated" +BMGC_DS16662,BMG_DS064170,"OMIM ID:125240 | UMLS ID:C4538570 | COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY | OMIM ID:226300" +BMGC_DS16663,BMG_DS064171,OMIM ID:605622 | MONDO:0009625 | diencephalic-mesencephalic junction dysplasia syndrome 1 | OMIM ID:251280 | UMLS ID:C4538630 | DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 +BMGC_DS16664,BMG_DS064173,"GALLOWAY-MOWAT SYNDROME 2, X-LINKED | OMIM ID:300060 | DOID:0080244 | Galloway-Mowat syndrome 2 | UMLS ID:C4538784 | OMIM ID:301006 | MONDO:0033006 | Galloway-Mowat syndrome 2, X-linked" +BMGC_DS16665,BMG_DS064174,"MONDO:0030909 | intellectual disability, X-linked, syndromic, Houge type | OMIM ID:301008 | UMLS ID:C4538788" +BMGC_DS16666,BMG_DS064175,"OMIM ID:301010 | MYOPIA 26, X-LINKED, FEMALE-LIMITED | OMIM ID:301770 | myopia 26, X-linked, female-limited | MONDO:0049221 | UMLS ID:C4538795" +BMGC_DS16667,BMG_DS064179,JOUBERT SYNDROME 34 | Joubert syndrome 34 | OMIM ID:611951 | MONDO:0800383 | OMIM ID:614175 | UMLS ID:C4539386 +BMGC_DS16668,BMG_DS064182,"pituitary adenoma 5, multiple types | UMLS ID:C4539685 | MONDO:0054601 | OMIM ID:617540" +BMGC_DS16669,BMG_DS064184,Meckel syndrome 13 | OMIM ID:617562 | DOID:0080253 | OMIM ID:616183 | MONDO:0033044 | MECKEL SYNDROME 13 | UMLS ID:C4539714 +BMGC_DS16670,BMG_DS064185,MONDO:0800372 | Meckel syndrome 13 | UMLS ID:C4539715 | OMIM ID:617562 | JOUBERT SYNDROME 29 | DOID:0080253 | OMIM ID:616183 | Joubert syndrome 29 +BMGC_DS16671,BMG_DS064186,orofaciodigital syndrome XVI | orofaciodigital syndrome 16 | OROFACIODIGITAL SYNDROME XVI | OMIM ID:616183 | UMLS ID:C4539729 | DOID:0080254 | MONDO:0033045 | OMIM ID:617563 +BMGC_DS16672,BMG_DS064187,"ichthyosis, congenital, autosomal recessive 14 | OMIM ID:617571 | UMLS ID:C4539754 | MONDO:0033091" +BMGC_DS16673,BMG_DS064188,OMIM ID:617572 | exudative vitreoretinopathy 7 | DOID:0080264 | OMIM ID:116806 | EXUDATIVE VITREORETINOPATHY 7 | UMLS ID:C4539767 | MONDO:0033123 +BMGC_DS16674,BMG_DS064189,"UMLS ID:C4539772 | MONDO:0033092 | ichthyosis, congenital, autosomal recessive 13 | OMIM ID:617574" +BMGC_DS16675,BMG_DS064190,SPERMATOGENIC FAILURE 18 | UMLS ID:C4539783 | spermatogenic failure 18 | OMIM ID:617576 | MONDO:0054615 | OMIM ID:603332 | DOID:0070165 +BMGC_DS16676,BMG_DS064191,"primary ciliary dyskinesia 37 | DOID:0080266 | CILIARY DYSKINESIA, PRIMARY, 37 | UMLS ID:C4539798 | OMIM ID:603332 | OMIM ID:617577 | ciliary dyskinesia, primary, 37 | MONDO:0033204" +BMGC_DS16677,BMG_DS064192,"autosomal recessive spinocerebellar ataxia 25 | spinocerebellar ataxia, autosomal recessive 25 | UMLS ID:C4539808 | MONDO:0033115 | OMIM ID:604261 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 | OMIM ID:617584 | DOID:0080259" +BMGC_DS16678,BMG_DS064193,UMLS ID:C4539811 | OMIM ID:604758 | MONDO:0054696 | immunodeficiency 53 | OMIM ID:617585 | IMMUNODEFICIENCY 53 | DOID:0111992 +BMGC_DS16679,BMG_DS064194,spermatogenic failure 19 | MONDO:0054723 | SPERMATOGENIC FAILURE 19 | OMIM ID:617592 | DOID:0070170 | OMIM ID:617558 | UMLS ID:C4539818 +BMGC_DS16680,BMG_DS064195,OMIM ID:617559 | DOID:0070166 | OMIM ID:617593 | UMLS ID:C4539824 | MONDO:0054724 | SPERMATOGENIC FAILURE 20 | spermatogenic failure 20 +BMGC_DS16681,BMG_DS064196,OMIM ID:604604 | psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | UMLS ID:C4539828 | OMIM ID:617595 | MONDO:0044726 | BIRK-LANDAU-PEREZ SYNDROME +BMGC_DS16682,BMG_DS064197,OMIM ID:604507 | MONDO:0054736 | mosaic variegated aneuploidy syndrome 3 | OMIM ID:617598 | UMLS ID:C4539839 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 | DOID:0080689 +BMGC_DS16683,BMG_DS064198,"DOID:0080283 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 | OMIM ID:617599 | developmental and epileptic encephalopathy, 55 | MONDO:0033364 | developmental and epileptic encephalopathy 55 | UMLS ID:C4539843 | OMIM ID:605938" +BMGC_DS16684,BMG_DS064199,"MONDO:0030910 | UMLS ID:C4539848 | OMIM ID:617600 | intellectual disability, autosomal dominant 45" +BMGC_DS16685,BMG_DS064200,"intellectual disability, autosomal dominant 46 | UMLS ID:C4539851 | OMIM ID:617601 | MONDO:0030911" +BMGC_DS16686,BMG_DS064201,OMIM ID:189980 | congenital heart defects and skeletal malformations syndrome | MONDO:0060532 | OMIM ID:617602 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | UMLS ID:C4539857 +BMGC_DS16687,BMG_DS064202,"DOID:0081431 | OMIM ID:617604 | UMLS ID:C4539873 | MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES | microcephaly, short stature, and limb abnormalities | OMIM ID:611428 | MONDO:0060533" +BMGC_DS16688,BMG_DS064203,"DOID:0080267 | hearing loss, autosomal dominant 71 | UMLS ID:C4539881 | autosomal dominant nonsyndromic deafness 71 | OMIM ID:612186 | DEAFNESS, AUTOSOMAL DOMINANT 71 | OMIM ID:617605 | MONDO:0033258" +BMGC_DS16689,BMG_DS064204,"UMLS ID:C4539886 | DOID:0080268 | OMIM ID:617606 | DEAFNESS, AUTOSOMAL DOMINANT 72 | OMIM ID:606107 | hearing loss, autosomal dominant 72 | MONDO:0033259 | autosomal dominant nonsyndromic deafness 72" +BMGC_DS16690,BMG_DS064205,"DOID:0080243 | amelogenesis imperfecta type 3B | MONDO:0021547 | AMELOGENESIS IMPERFECTA, TYPE IIIB | UMLS ID:C4539891 | OMIM ID:617607 | OMIM ID:610912" +BMGC_DS16691,BMG_DS064206,"UMLS ID:C4539896 | NEPHROTIC SYNDROME, TYPE 15 | nephrotic syndrome 15 | DOID:0080271 | nephrotic syndrome type 15 | MONDO:0033262 | OMIM ID:606382 | OMIM ID:617609" +BMGC_DS16692,BMG_DS064207,polycystic kidney disease 5 | OMIM ID:617570 | OMIM ID:617610 | MONDO:0033281 | POLYCYSTIC KIDNEY DISEASE 5 | UMLS ID:C4539903 | DOID:0080273 +BMGC_DS16693,BMG_DS064208,SNOMEDCT ID:1279890001 | MONDO:0033282 | MMDS5 - multiple mitochondrial dysfunctions syndrome type 5 | UMLS ID:C4539919 | multiple mitochondrial dysfunctions syndrome 5 | OMIM ID:617613 | Multiple mitochondrial dysfunctions syndrome type 5 (disorder) | Multiple mitochondrial dysfunctions syndrome type 5 | ISCA1 (iron-sulfur cluster assembly 1) deficiency | ISCA1 deficiency +BMGC_DS16694,BMG_DS064209,Skraban-Deardorff syndrome | OMIM ID:617424 | OMIM ID:617616 | SKRABAN-DEARDORFF SYNDROME | MONDO:0054636 | UMLS ID:C4539927 +BMGC_DS16695,BMG_DS064210,OMIM ID:617612 | UMLS ID:C4539937 | OMIM ID:617622 | MONDO:0033308 | DOID:0080275 | JOUBERT SYNDROME 30 | Joubert syndrome 30 +BMGC_DS16696,BMG_DS064211,"OMIM ID:617626 | DOID:0080280 | UMLS ID:C4539942 | fibromatosis, gingival, 5 | gingival fibromatosis 5 | MONDO:0033493 | FIBROMATOSIS, GINGIVAL, 5 | 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 | OMIM ID:617633 | MONDO:0033116 | spinocerebellar ataxia, autosomal recessive 26 | DOID:0080260 | UMLS ID:C4539948 | autosomal recessive spinocerebellar ataxia 26 | OMIM ID:194360" +BMGC_DS16699,BMG_DS064214,"intellectual disability, autosomal dominant 47 | UMLS ID:C4539951 | OMIM ID:617635 | MONDO:0030912" +BMGC_DS16700,BMG_DS064215,"OMIM ID:614988 | DEAFNESS, AUTOSOMAL RECESSIVE 106 | DOID:0080261 | MONDO:0033198 | OMIM ID:617637 | autosomal recessive nonsyndromic deafness 106 | hearing loss, autosomal recessive 106 | UMLS ID:C4539954" +BMGC_DS16701,BMG_DS064216,MONDO:0054697 | OMIM ID:607210 | IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS | immunodeficiency 11B | OMIM ID:617638 | UMLS ID:C4539957 | immunodeficiency 11b with atopic dermatitis | DOID:0111958 +BMGC_DS16702,BMG_DS064217,"autosomal recessive nonsyndromic deafness 107 | DEAFNESS, AUTOSOMAL RECESSIVE 107 | UMLS ID:C4539964 | hearing loss, autosomal recessive 107 | OMIM ID:606962 | MONDO:0033199 | DOID:0080262 | OMIM ID:617639" +BMGC_DS16703,BMG_DS064218,"UMLS ID:C4539968 | congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | OMIM ID:617641 | DOID:0112359 | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY | OMIM ID:176310 | MONDO:0060549" +BMGC_DS16704,BMG_DS064219,"UMLS ID:C4539976 | OMIM ID:617642 | MONDO:0060550 | polydactyly, postaxial, type a7" +BMGC_DS16705,BMG_DS064220,"cerebellar atrophy, developmental delay, and seizures | OMIM ID:600150 | UMLS ID:C4539985 | OMIM ID:617643 | MONDO:0060551 | CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES" +BMGC_DS16706,BMG_DS064221,spermatogenic failure 21 | DOID:0070163 | UMLS ID:C4539991 | MONDO:0054725 | SPERMATOGENIC FAILURE 21 | OMIM ID:602144 | OMIM ID:617644 +BMGC_DS16707,BMG_DS064222,"OMIM ID:602336 | DEAFNESS, AUTOSOMAL RECESSIVE 108 | autosomal recessive nonsyndromic deafness 108 | MONDO:0033200 | hearing loss, autosomal recessive 108 | DOID:0080263 | OMIM ID:617654 | UMLS ID:C4539997" +BMGC_DS16708,BMG_DS064223,"VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 | MONDO:0060554 | vertebral, cardiac, renal, and limb defects syndrome 1 | OMIM ID:617660 | UMLS ID:C4540004 | OMIM ID:604521" +BMGC_DS16709,BMG_DS064224,"OMIM ID:617661 | UMLS ID:C4540014 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 | MONDO:0060555 | vertebral, cardiac, renal, and limb defects syndrome 2 | OMIM ID:605197" +BMGC_DS16710,BMG_DS064225,"MONDO:0060556 | UMLS ID:C4540020 | Severe myopia, generalized joint laxity, short stature syndrome (disorder) | Severe myopia, generalized joint laxity, short stature syndrome | joint laxity, short stature, and myopia | Severe myopia, generalised joint laxity, short stature syndrome | OMIM ID:617662 | SNOMEDCT ID:1217372003" +BMGC_DS16711,BMG_DS064226,"DOID:0080269 | MONDO:0033260 | OMIM ID:617663 | hearing loss, autosomal dominant 73 | autosomal dominant nonsyndromic deafness 73 | UMLS ID:C4540024 | DEAFNESS, AUTOSOMAL DOMINANT 73 | OMIM ID:603317" +BMGC_DS16712,BMG_DS064227,UMLS ID:C4540029 | DOID:0111492 | combined oxidative phosphorylation deficiency 32 | OMIM ID:611994 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | MONDO:0054654 | OMIM ID:617664 +BMGC_DS16713,BMG_DS064228,UMLS ID:C4540031 | combined oxidative phosphorylation deficiency | MONDO:0000732 +BMGC_DS16714,BMG_DS064229,"OMIM ID:617665 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 | developmental and epileptic encephalopathy 56 | developmental and epileptic encephalopathy, 56 | UMLS ID:C4540034 | DOID:0080282 | OMIM ID:605356 | MONDO:0033365" +BMGC_DS16715,BMG_DS064230,DOID:0111407 | UMLS ID:C4540036 | OMIM ID:608945 | Fraser syndrome 2 | MONDO:0054738 | OMIM ID:617666 | FRASER SYNDROME 2 +BMGC_DS16716,BMG_DS064231,UMLS ID:C4540040 | MONDO:0054739 | OMIM ID:617667 | DOID:0111406 | Fraser syndrome 3 | FRASER SYNDROME 3 | OMIM ID:604597 +BMGC_DS16717,BMG_DS064232,"UMLS ID:C4540052 | encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | OMIM ID:617659 | OMIM ID:617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | MONDO:0060562" +BMGC_DS16718,BMG_DS064233,"childhood-onset neurodegeneration with brain atrophy | DOID:0070474 | OMIM ID:617672 | UMLS ID:C4540086 | OMIM ID:600673 | childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | MONDO:0044701 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY" +BMGC_DS16719,BMG_DS064234,"MONDO:0044714 | SNOMEDCT ID:1237514002 | 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) | OMIM ID:617675" +BMGC_DS16720,BMG_DS064235,MONDO:0040503 | BLEPHAROCHEILODONTIC SYNDROME 2 | DOID:0080346 | UMLS ID:C4540127 | blepharocheilodontic syndrome 2 | OMIM ID:617681 | OMIM ID:601045 +BMGC_DS16721,BMG_DS064236,"Pilarowski-Bjornsson syndrome | OMIM ID:617682 | UMLS ID:C4540131 | SNOMEDCT ID:1217382002 | Pilarowski Bjornsson syndrome | Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | MONDO:0060568 | Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome" +BMGC_DS16722,BMG_DS064237,"pituitary adenoma 3, multiple types | MONDO:0054665 | UMLS ID:C4540135 | OMIM ID:617686" +BMGC_DS16723,BMG_DS064238,UMLS ID:C4540141 | OVARIAN DYSGENESIS 5 | OMIM ID:617690 | DOID:0080497 | OMIM ID:610224 | ovarian dysgenesis 5 | MONDO:0054666 +BMGC_DS16724,BMG_DS064239,OMIM ID:617694 | UMLS ID:C4540156 | Al Kaissi syndrome | OMIM ID:603464 | AL KAISSI SYNDROME | MONDO:0044324 +BMGC_DS16725,BMG_DS064240,"MONDO:0054669 | OMIM ID:617695 | pontocerebellar hypoplasia, type 11 | UMLS ID:C4540164" +BMGC_DS16726,BMG_DS064241,"3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome | UMLS ID:C4540171 | 3-methylglutaconic aciduria type 9 | OMIM ID:617698 | SNOMEDCT ID:1222672002 | 3-methylglutaconic aciduria type 9 (disorder) | MONDO:0044724" +BMGC_DS16727,BMG_DS064242,DOID:0070177 | UMLS ID:C4540179 | SPERMATOGENIC FAILURE 22 | MONDO:0054726 | OMIM ID:617670 | spermatogenic failure 22 | OMIM ID:617706 +BMGC_DS16728,BMG_DS064243,spermatogenic failure 23 | SPERMATOGENIC FAILURE 23 | DOID:0070181 | UMLS ID:C4540185 | OMIM ID:617707 | MONDO:0054727 | OMIM ID:605792 +BMGC_DS16729,BMG_DS064244,"neurodevelopmental disorder with microcephaly, ataxia, and seizures | OMIM ID:607529 | UMLS ID:C4540188 | OMIM ID:617709 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES | MONDO:0060577" +BMGC_DS16730,BMG_DS064245,"Mitochondrial tryptophanyl-tRNA synthetase deficiency | SNOMEDCT ID:1260128008 | OMIM ID:617710 | neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect | WARS2-related combined oxidative phosphorylation defect | MONDO:0060578 | UMLS ID:C4540192 | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder)" +BMGC_DS16731,BMG_DS064246,OMIM ID:114105 | MONDO:0020630 | UMLS ID:C4540199 | DOID:0080472 | OMIM ID:617711 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 | developmental and epileptic encephalopathy 91 +BMGC_DS16732,BMG_DS064247,UMLS ID:C4540205 | MONDO:0021574 | oocyte maturation defect 3 | OMIM ID:182889 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 3 | OMIM ID:617712 +BMGC_DS16733,BMG_DS064248,MONDO:0054677 | OMIM ID:617713 | UMLS ID:C4540209 | combined oxidative phosphorylation deficiency 33 +BMGC_DS16734,BMG_DS064249,UMLS ID:C4540232 | immunodeficiency 71 | IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA | MONDO:0060583 | DOID:0112004 | OMIM ID:617718 | platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | OMIM ID:604223 +BMGC_DS16735,BMG_DS064250,"OMIM ID:617719 | MONDO:0054680 | UMLS ID:C4540251 | epiphyseal dysplasia, multiple, 7" +BMGC_DS16736,BMG_DS064253,"OMIM ID:191050 | UMLS ID:C4540265 | OMIM ID:617721 | neuronopathy, distal hereditary motor, type 9 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 9 | autosomal dominant distal hereditary motor neuronopathy 9 | DOID:0111212 | MONDO:0060585" +BMGC_DS16737,BMG_DS064254,DOID:0080245 | UMLS ID:C4540266 | GALLOWAY-MOWAT SYNDROME 3 | Galloway-Mowat syndrome 3 | OMIM ID:610107 | MONDO:0033007 | OMIM ID:617729 +BMGC_DS16738,BMG_DS064255,MONDO:0033008 | OMIM ID:617730 | OMIM ID:608679 | Galloway-Mowat syndrome 4 | GALLOWAY-MOWAT SYNDROME 4 | DOID:0080246 | UMLS ID:C4540270 +BMGC_DS16739,BMG_DS064256,OMIM ID:608680 | UMLS ID:C4540274 | MONDO:0033009 | DOID:0080247 | Galloway-Mowat syndrome 5 | OMIM ID:617731 | GALLOWAY-MOWAT SYNDROME 5 +BMGC_DS16740,BMG_DS064257,"MONDO:0060589 | OMIM ID:615103 | OMIM ID:617732 | FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION | facial palsy, congenital, with ptosis and velopharyngeal dysfunction | UMLS ID:C4540277" +BMGC_DS16741,BMG_DS064258,oocyte maturation defect 4 | OMIM ID:617743 | MONDO:0021575 | UMLS ID:C4540284 +BMGC_DS16742,BMG_DS064259,"OMIM ID:600492 | IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA | OMIM ID:617744 | MONDO:0060591 | UMLS ID:C4540293 | immunodeficiency, developmental delay, and hypohomocysteinemia" +BMGC_DS16743,BMG_DS064260,OMIM ID:617746 | DOID:0080538 | OMIM ID:601622 | SWEENEY-COX SYNDROME | Sweeney-Cox syndrome | MONDO:0060592 | UMLS ID:C4540299 +BMGC_DS16744,BMG_DS064261,"intellectual disability, autosomal dominant 48 | UMLS ID:C4540321 | MONDO:0030913 | OMIM ID:617751" +BMGC_DS16745,BMG_DS064262,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES | UMLS ID:C4540327 | MONDO:0060596 | OMIM ID:617755 | OMIM ID:601819 | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | DOID:0070514 +BMGC_DS16746,BMG_DS064263,erythrokeratodermia variabilis et progressiva 5 | OMIM ID:602765 | OMIM ID:617756 | DOID:0080251 | UMLS ID:C4540331 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 | MONDO:0033015 +BMGC_DS16747,BMG_DS064264,JOUBERT SYNDROME 32 | OMIM ID:607035 | OMIM ID:617757 | Joubert syndrome 32 | DOID:0080278 | MONDO:0033309 | UMLS ID:C4540342 +BMGC_DS16748,BMG_DS064265,"OMIM ID:617760 | UMLS ID:C4540345 | OMIM ID:609479 | MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | centronuclear myopathy 6 with fiber-type disproportion | MONDO:0054695 | DOID:0111221 | myopathy, centronuclear, 6, with fiber-type disproportion" +BMGC_DS16749,BMG_DS064266,OMIM ID:617761 | JOUBERT SYNDROME 31 | UMLS ID:C4540355 | DOID:0080277 | Joubert syndrome 31 | OMIM ID:613446 | MONDO:0033310 +BMGC_DS16750,BMG_DS064267,ACER3-related early childhood-onset progressive leukodystrophy | ACER3-related early childhood-onset progressive leucodystrophy | OMIM ID:617762 | Leukodystrophy due to alkaline ceramidase 3 deficiency | UMLS ID:C4540358 | alkaline ceramidase 3 deficiency | SNOMEDCT ID:1237515001 | Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | Leucodystrophy due to alkaline ceramidase 3 deficiency | Alkaline ceramidase 3 deficiency | MONDO:0044718 +BMGC_DS16751,BMG_DS064268,"MONDO:0044634 | short stature, hearing loss, retinitis pigmentosa, and distinctive facies | OMIM ID:602238 | SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | DOID:0081175 | retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | UMLS ID:C4540367 | OMIM ID:617763" +BMGC_DS16752,BMG_DS064270,"common variable immunodeficiency 14 | UMLS ID:C4540380 | OMIM ID:617765 | OMIM ID:615332 | DOID:0081156 | IMMUNODEFICIENCY, COMMON VARIABLE, 14 | immunodeficiency, common variable, 14 | MONDO:0054691" +BMGC_DS16753,BMG_DS064271,MONDO:0033311 | OMIM ID:607532 | UMLS ID:C4540389 | DOID:0080279 | Joubert syndrome 33 | OMIM ID:617767 | JOUBERT SYNDROME 33 +BMGC_DS16754,BMG_DS064272,MONDO:0054701 | OMIM ID:606833 | DOID:0080598 | UMLS ID:C4540395 | KLEEFSTRA SYNDROME 2 | Kleefstra syndrome 2 | OMIM ID:617768 +BMGC_DS16755,BMG_DS064273,spinocerebellar ataxia 45 | SCA45 - spinocerebellar ataxia type 45 | Spinocerebellar ataxia type 45 (disorder) | UMLS ID:C4540400 | Spinocerebellar ataxia type 45 | MONDO:0033480 | OMIM ID:617769 | SNOMEDCT ID:1279840000 +BMGC_DS16756,BMG_DS064274,UMLS ID:C4540404 | MONDO:0033481 | SCA46 - spinocerebellar ataxia type 46 | OMIM ID:617770 | Spinocerebellar ataxia type 46 (disorder) | Spinocerebellar ataxia type 46 | SNOMEDCT ID:1279839002 | spinocerebellar ataxia 46 +BMGC_DS16757,BMG_DS064275,"developmental and epileptic encephalopathy, 57 | OMIM ID:610044 | UMLS ID:C4540411 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57 | OMIM ID:617771 | DOID:0080284 | developmental and epileptic encephalopathy 57 | MONDO:0033366" +BMGC_DS16758,BMG_DS064276,"intellectual disability, autosomal recessive 61 | UMLS ID:C4540424 | OMIM ID:617773 | MONDO:0030915" +BMGC_DS16759,BMG_DS064277,OMIM ID:617780 | COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA | UMLS ID:C4540434 | combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | MONDO:0060611 +BMGC_DS16760,BMG_DS064278,retinitis pigmentosa 80 | OMIM ID:614620 | UMLS ID:C4540439 | OMIM ID:617781 | RETINITIS PIGMENTOSA 80 | MONDO:0054708 +BMGC_DS16761,BMG_DS064279,"MONDO:0033280 | nephrotic syndrome type 16 | UMLS ID:C4540453 | NEPHROTIC SYNDROME, TYPE 16 | DOID:0080272 | nephrotic syndrome 16 | OMIM ID:617783 | OMIM ID:614610" +BMGC_DS16762,BMG_DS064280,"MONDO:0030916 | UMLS ID:C4540470 | intellectual disability, autosomal dominant 50 | OMIM ID:617787" +BMGC_DS16763,BMG_DS064281,"intellectual disability, autosomal dominant 51 | MONDO:0030917 | UMLS ID:C4540474 | OMIM ID:617788" +BMGC_DS16764,BMG_DS064282,"intellectual disability, autosomal dominant 52 | MONDO:0030918 | OMIM ID:617796 | UMLS ID:C4540478" +BMGC_DS16765,BMG_DS064283,"UMLS ID:C4540481 | OMIM ID:617798 | MONDO:0030919 | intellectual disability, autosomal dominant 53" +BMGC_DS16766,BMG_DS064284,"intellectual disability, autosomal dominant 54 | OMIM ID:617799 | MONDO:0030920 | UMLS ID:C4540484" +BMGC_DS16767,BMG_DS064285,"OMIM ID:606990 | UMLS ID:C4540488 | microcephaly 19, primary, autosomal recessive | OMIM ID:617800 | MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE | DOID:0070281 | MONDO:0054716 | primary autosomal recessive microcephaly 19" +BMGC_DS16768,BMG_DS064286,"OMIM ID:192150 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY | OMIM ID:617802 | neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | MONDO:0060621 | UMLS ID:C4540493" +BMGC_DS16769,BMG_DS064287,OMIM ID:617804 | MONDO:0060622 | neurodevelopmental disorder with severe motor impairment and absent language | UMLS ID:C4540496 +BMGC_DS16770,BMG_DS064288,OMIM ID:617805 | MONDO:0024520 | renal hypodysplasia/aplasia 3 | UMLS ID:C4540497 +BMGC_DS16771,BMG_DS064289,"MONDO:0060624 | UMLS ID:C4540498 | neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | OMIM ID:617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | OMIM ID:604198" +BMGC_DS16772,BMG_DS064290,COFFIN-SIRIS SYNDROME 6 | OMIM ID:617808 | UMLS ID:C4540499 | OMIM ID:609539 | MONDO:0033492 | DOID:0080297 | Coffin-Siris syndrome 6 +BMGC_DS16773,BMG_DS064291,OMIM ID:617809 | geleophysic dysplasia 3 | UMLS ID:C4540511 | MONDO:0054722 +BMGC_DS16774,BMG_DS064292,"GPAA1-related biosynthesis defect | MONDO:0060627 | Glycosylphosphatidylinositol anchor attachment 1-related biosynthesis defect | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | UMLS ID:C4540520 | OMIM ID:617810 | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome (disorder) | glycosylphosphatidylinositol biosynthesis defect 15 | SNOMEDCT ID:1217381009" +BMGC_DS16775,BMG_DS064293,DOID:0081223 | OMIM ID:617816 | glycosylphosphatidylinositol biosynthesis defect 16 | MONDO:0040500 | UMLS ID:C4540521 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 | OMIM ID:601730 +BMGC_DS16776,BMG_DS064294,glucocorticoid deficiency 5 | OMIM ID:606448 | MONDO:0040502 | UMLS ID:C4540522 | GLUCOCORTICOID DEFICIENCY 5 | OMIM ID:617825 +BMGC_DS16777,BMG_DS064299,"SHORT STATURE AND ADVANCED BONE AGE, WITH EARLY-ONSET OSTEOARTHRITIS | OMIM ID:155760 | UMLS ID:C4540542" +BMGC_DS16778,BMG_DS064302,UMLS ID:C4540559 | nephrotic syndrome type 14 | DOID:0080265 | nephrotic syndrome 14 | OMIM ID:603729 | RENI SYNDROME | OMIM ID:617575 | MONDO:0033203 +BMGC_DS16779,BMG_DS064305,MONDO:0033004 | POLYCYSTIC KIDNEY DISEASE 4 | OMIM ID:606702 | UMLS ID:C4540575 | polycystic kidney disease 4 | OMIM ID:263200 +BMGC_DS16780,BMG_DS064510,SNOMEDCT ID:735438000 | Disorder of neutrophil chemotaxis (disorder) | UMLS ID:C4543735 | Disorder of neutrophil chemotaxis +BMGC_DS16781,BMG_DS064519,Chronic infection caused by Hepatitis D virus | Chronic infection caused by Hepatitis D virus (disorder) | SNOMEDCT ID:735451005 | Chronic viral hepatitis D | UMLS ID:C4543747 +BMGC_DS16782,BMG_DS064618,Narcolepsy type 1 (disorder) | SNOMEDCT ID:735676003 | Narcolepsy type 1 | UMLS ID:C4543926 +BMGC_DS16783,BMG_DS064824,MeSH ID:D059350 | Chronic Pain | UMLS ID:C4545041 | Chronic Primary Pain +BMGC_DS16784,BMG_DS064898,MONDO:0017636 | Hemiparkinsonism hemiatrophy syndrome (disorder) | SNOMEDCT ID:737582007 | Hemiparkinsonism hemiatrophy syndrome | UMLS ID:C4545231 | hemiparkinsonism-hemiatrophy syndrome +BMGC_DS16785,BMG_DS064942,myeloid neoplasm associated with PDGFRA rearrangement | UMLS ID:C4545381 | MONDO:0015689 +BMGC_DS16786,BMG_DS064976,MONDO:0000890 | UMLS ID:C4546023 | Zika fever | Congenital Zika Syndrome | DOID:0060478 | Zika virus congenital syndrome | Zika Virus Infection | MeSH ID:D000071243 +BMGC_DS16787,BMG_DS065013,UMLS ID:C4546092 | MONDO:0017117 | congenital non-communicating hydrocephalus +BMGC_DS16788,BMG_DS065225,UMLS ID:C4551474 | MONDO:0008869 | Seckel syndrome 1 | DOID:0070007 | MeSH ID:C537533 | OMIM ID:210600 +BMGC_DS16789,BMG_DS065226,"autosomal dominant Robinow syndrome 1 | OMIM ID:180700 | MONDO:0024455 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 | OMIM ID:164975 | UMLS ID:C4551475 | DOID:0060766" +BMGC_DS16790,BMG_DS065227,Neu-Laxova syndrome 1 | DOID:0080076 | OMIM ID:606879 | UMLS ID:C4551478 | OMIM ID:256520 | MONDO:0009736 | NEU-LAXOVA SYNDROME 1 +BMGC_DS16791,BMG_DS065228,"OMIM ID:255800 | Osteochondrodysplasias | UMLS ID:C4551479 | Schwartz-Jampel Syndrome, Type 1 | MONDO:0100435 | MeSH ID:D010009 | Schwartz-Jampel syndrome type 1" +BMGC_DS16792,BMG_DS065229,Fraser syndrome 1 | DOID:0111405 | FRASER SYNDROME 1 | OMIM ID:219000 | MONDO:0054737 | OMIM ID:607830 | UMLS ID:C4551480 +BMGC_DS16793,BMG_DS065230,Townes-Brocks syndrome 1 | TOWNES-BROCKS SYNDROME 1 | OMIM ID:107480 | UMLS ID:C4551481 | MONDO:0054581 +BMGC_DS16794,BMG_DS065231,Adams-Oliver syndrome 1 | UMLS ID:C4551482 | MeSH ID:C538225 | MONDO:0024506 | OMIM ID:100300 +BMGC_DS16795,BMG_DS065232,sclerosteosis 1 | UMLS ID:C4551483 | OMIM ID:269500 | MONDO:0010016 | SCLEROSTEOSIS 1 +BMGC_DS16796,BMG_DS065233,"MONDO:0100082 | UMLS ID:C4551484 | MeSH ID:D044542 | LEOPARD Syndrome, 1 | LEOPARD syndrome 1 | OMIM ID:151100 | LEOPARD Syndrome" +BMGC_DS16797,BMG_DS065234,erythrokeratodermia variabilis et progressiva 1 | UMLS ID:C4551486 | MONDO:0033010 | DOID:0111195 | OMIM ID:133200 | OMIM ID:603324 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 +BMGC_DS16798,BMG_DS065235,bifid uvula | MONDO:0008637 | OMIM ID:192100 | UMLS ID:C4551488 +BMGC_DS16799,BMG_DS065236,UMLS ID:C4551493 | MONDO:0010029 | situs inversus +BMGC_DS16800,BMG_DS065238,"hypophosphatemic rickets, autosomal recessive, 1 | MeSH ID:C562792 | Hypophosphatemic Rickets, Autosomal Recessive, 1 | UMLS ID:C4551495 | OMIM ID:241520 | MONDO:0009430" +BMGC_DS16801,BMG_DS065239,"UMLS ID:C4551496 | MONDO:0008073 | OMIM ID:603860 | familial juvenile hyperuricemic nephropathy type 1 | OMIM ID:609886 | OMIM ID:162000 | MeSH ID:C537696 | Hyperuricemic Nephropathy, Familial Juvenile 1" +BMGC_DS16802,BMG_DS065242,"UMLS ID:C4551499 | OMIM ID:613785 | Ehlers-Danlos syndrome periodontal type 1 | EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 | Ehlers-Danlos syndrome, periodontal type 1 | OMIM ID:130080 | DOID:0080986 | MONDO:0020684" +BMGC_DS16803,BMG_DS065243,"Amyloid Neuropathies, Familial | MeSH ID:D028227 | amyloidosis, hereditary systemic 3 | MONDO:0971008 | OMIM ID:620657 | UMLS ID:C4551500 | Amyloid Polyneuropathy, Iowa Type" +BMGC_DS16804,BMG_DS065244,"MONDO:0024522 | amyloidosis, primary localized cutaneous, 1 | AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 | OMIM ID:105250 | primary localized cutaneous amyloidosis 1 | OMIM ID:601743 | DOID:0080930 | UMLS ID:C4551501" +BMGC_DS16805,BMG_DS065245,MONDO:0009398 | hyperphosphatasia with intellectual disability syndrome 1 | OMIM ID:610274 | DOID:0070433 | UMLS ID:C4551502 | hyperphosphatasia with impaired intellectual development syndrome 1 | OMIM ID:239300 | HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 +BMGC_DS16806,BMG_DS065246,OMIM ID:134600 | MONDO:0024525 | OMIM ID:602360 | Fanconi renotubular syndrome 1 | UMLS ID:C4551503 | FANCONI RENOTUBULAR SYNDROME 1 | DOID:0080757 +BMGC_DS16807,BMG_DS065247,MONDO:0008745 | OMIM ID:203100 | oculocutaneous albinism type 1A | MeSH ID:C537728 | Oculocutaneous albinism type 1A | UMLS ID:C4551504 +BMGC_DS16808,BMG_DS065248,"3-Methylcrotonyl-CoA carboxylase deficiency | Methylcrotonyl-coenzyme A carboxylase deficiency | 3-methylcrotonyl-CoA carboxylase deficiency | BMCC deficiency | Methylcrotonyl-CoA carboxylase deficiency | SNOMEDCT ID:13144005 | Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | beta-Methylcrotonylglycinuria, type 1 | UMLS ID:C4551505 | MCC deficiency | MONDO:0018950" +BMGC_DS16809,BMG_DS065249,MeSH ID:C537181 | UMLS ID:C4551506 | paroxysmal nonkinesigenic dyskinesia 1 | Paroxysmal Nonkinesigenic Dyskinesia 1 | OMIM ID:118800 | MONDO:0700089 +BMGC_DS16810,BMG_DS065250,Autosomal dominant optic atrophy | SNOMEDCT ID:2065009 | Dominant hereditary optic atrophy (disorder) | Dominant hereditary optic atrophy | autosomal dominant optic atrophy | UMLS ID:C4551508 | MONDO:0020250 +BMGC_DS16811,BMG_DS065251,Jervell and Lange-Nielsen syndrome 1 | MeSH ID:D029593 | UMLS ID:C4551509 | Jervell And Lange-Nielsen Syndrome 1 | Jervell-Lange Nielsen Syndrome | MONDO:0024540 | OMIM ID:220400 +BMGC_DS16812,BMG_DS065252,UMLS ID:C4551510 | RAB23-related Carpenter syndrome | CARPENTER SYNDROME 1 | MONDO:0008710 | OMIM ID:201000 +BMGC_DS16813,BMG_DS065253,X chromosome-linked sideroblastic anemia | UMLS ID:C4551511 | X chromosome-linked sideroblastic anemia (disorder) | Erythroid 5-aminolaevulinate synthetase deficiency | X-linked sideroblastic anemia | Hereditary sideroblastic anemia (disorder) | SNOMEDCT ID:62677000 | MeSH ID:C536761 | OMIM ID:300751 | SNOMEDCT ID:48983004 | X-linked sideroblastic anaemia | Hereditary sideroblastic anaemia | X chromosome-linked sideroblastic anaemia | MONDO:0020721 | Hereditary sideroblastic anemia | X-linked sideroblastic anemia 1 | Erythroid 5-aminolevulinate synthetase deficiency +BMGC_DS16814,BMG_DS065254,dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | UMLS ID:C4551512 | dehydrated hereditary stomatocytosis 1 | OMIM ID:194380 | DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA | DOID:0111576 | MONDO:0008689 +BMGC_DS16815,BMG_DS065255,"MONDO:0009974 | familial hemophagocytic lymphohistiocytosis type 1 | MeSH ID:D051359 | Hemophagocytic Lymphohistiocytosis, Familial, 1 | Lymphohistiocytosis, Hemophagocytic | UMLS ID:C4551514 | OMIM ID:267700" +BMGC_DS16816,BMG_DS065256,"Lupus pernio | UMLS ID:C4551515 | MONDO:0019557 | Sarcoidosis, lupus pernio type | Sarcoidosis, lupus pernio type (disorder) | SNOMEDCT ID:11361009 | Chilblain lupus erythematosus | SNOMEDCT ID:238928005 | Chilblain lupus erythematosus (disorder) | chilblain lupus | SNOMEDCT ID:72470008" +BMGC_DS16817,BMG_DS065257,Abducens Nerve Diseases | MeSH ID:D020434 | MONDO:0007033 | abducens nerve palsy | OMIM ID:100200 | Abducens Nerve Palsy | UMLS ID:C4551519 +BMGC_DS16818,BMG_DS065258,OMIM ID:603278 | UMLS ID:C4551527 | focal segmental glomerulosclerosis 1 | MONDO:0011303 | MeSH ID:C538457 | Focal segmental glomerulosclerosis 1 +BMGC_DS16819,BMG_DS065260,"epilepsy, hot water, 1 | MONDO:0024508 | hot water epilepsy 1 | DOID:0081106 | OMIM ID:613339 | EPILEPSY, HOT WATER, 1 | UMLS ID:C4551550" +BMGC_DS16820,BMG_DS065261,X-linked hereditary motor and sensory neuropathy | X-linked hereditary motor and sensory neuropathy (disorder) | Charcot-Marie-Tooth disease type X | MONDO:0018994 | UMLS ID:C4551551 | SNOMEDCT ID:230552007 | X-linked Charcot-Marie-Tooth disease +BMGC_DS16821,BMG_DS065262,"cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | DOID:0070556 | UMLS ID:C4551552 | MONDO:0024542 | OMIM ID:192977 | CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | OMIM ID:224050" +BMGC_DS16822,BMG_DS065263,OMIM ID:245480 | UMLS ID:C4551556 | MONDO:0044207 | SPECIFIC GRANULE DEFICIENCY 1 | OMIM ID:600749 | specific granule deficiency 1 +BMGC_DS16823,BMG_DS065264,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 | immunodeficiency-centromeric instability-facial anomalies syndrome 1 | OMIM ID:602900 | MONDO:0009454 | OMIM ID:242860 | UMLS ID:C4551557 +BMGC_DS16824,BMG_DS065265,"fibromatosis, gingival, 1 | MONDO:0007609 | MeSH ID:C562884 | Fibromatosis, Gingival, Type 1 | OMIM ID:135300 | UMLS ID:C4551558" +BMGC_DS16825,BMG_DS065266,UMLS ID:C4551559 | Senior-Loken syndrome | DOID:0050576 | MONDO:0009962 | MeSH ID:C537580 | OMIM ID:266900 | Senior-Loken syndrome 1 | Senior-Loken Syndrome 1 +BMGC_DS16826,BMG_DS065267,"avascular necrosis of femoral head, primary, 1 | MONDO:0054550 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 | OMIM ID:608805 | UMLS ID:C4551562" +BMGC_DS16827,BMG_DS065268,microcephaly | MONDO:0001149 | UMLS ID:C4551563 +BMGC_DS16828,BMG_DS065270,OMIM ID:213300 | MONDO:0008944 | Joubert syndrome 1 | MeSH ID:C536293 | UMLS ID:C4551568 +BMGC_DS16829,BMG_DS065271,Sensenbrenner's syndrome | MONDO:0009032 | UMLS ID:C4551571 | cranioectodermal dysplasia | SNOMEDCT ID:239034008 | Cranioectodermal dysplasia (disorder) | SNOMEDCT ID:254093009 | Cranioectodermal dysplasia +BMGC_DS16830,BMG_DS065272,"OMIM ID:173410 | UMLS ID:C4551572 | OMIM ID:228550 | MYOFIBROMATOSIS, INFANTILE, 1 | myofibromatosis, infantile, 1 | MONDO:0009227" +BMGC_DS16831,BMG_DS065273,uncombable hair syndrome 1 | OMIM ID:606755 | MONDO:0020736 | UMLS ID:C4551573 | OMIM ID:191480 | UNCOMBABLE HAIR SYNDROME 1 +BMGC_DS16832,BMG_DS065274,OMIM ID:MTHU015450 | Cerebral cortical atrophy | UMLS ID:C4551583 +BMGC_DS16833,BMG_DS065275,OMIM ID:MTHU005283 | UMLS ID:C4551584 | Brain atrophy +BMGC_DS16834,BMG_DS065276,"OMIM ID:610247 | ESOPHAGITIS, EOSINOPHILIC, 1 | UMLS ID:C4551589 | MONDO:0012451 | esophagitis, eosinophilic, 1" +BMGC_DS16835,BMG_DS065277,UMLS ID:C4551590 | Familial renal hypouricemia (disorder) | Familial renal hypouricemia | SNOMEDCT ID:236478009 | Dalmatian hypouricemia | MONDO:0009071 | Familial renal hypouricaemia | hereditary renal hypouricemia | Dalmatian hypouricaemia +BMGC_DS16836,BMG_DS065278,"MONDO:0020738 | SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 | DOID:0112242 | OMIM ID:191130 | multiple benign circumferential skin creases on limbs 1 | OMIM ID:156610 | UMLS ID:C4551592 | congenital symmetric circumferential skin creases 1" +BMGC_DS16837,BMG_DS065280,"primary biliary cholangitis 1 | Biliary Cirrhosis, Primary, 1 | UMLS ID:C4551595 | MeSH ID:D008105 | Liver Cirrhosis, Biliary | OMIM ID:109720 | MONDO:0007193" +BMGC_DS16838,BMG_DS065281,Noonan syndrome 1 | Noonan Syndrome 1 | Noonan Syndrome | OMIM ID:163950 | MONDO:0008104 | UMLS ID:C4551602 | MeSH ID:D009634 +BMGC_DS16839,BMG_DS065282,"OMIM ID:130060 | OMIM ID:120150 | DOID:0080727 | MONDO:0007525 | UMLS ID:C4551623 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 | Ehlers-Danlos syndrome, arthrochalasia type | Ehlers-Danlos syndrome arthrochalasia type 1" +BMGC_DS16840,BMG_DS065283,"Idiopathic basal ganglia calcification 1 | OMIM ID:213600 | UMLS ID:C4551624 | bilateral striopallidodentate calcinosis | basal ganglia calcification, idiopathic, 1 | OMIM ID:606656 | MONDO:0024538;MONDO:0008947 | MeSH ID:C536275" +BMGC_DS16841,BMG_DS065284,leukonychia totalis | MONDO:0016557 | UMLS ID:C4551625 +BMGC_DS16842,BMG_DS065285,Granulocytopenic disorder (disorder) | Granulocytopenic disorder | SNOMEDCT ID:417672002 | Granulocytopenia | UMLS ID:C4551627 +BMGC_DS16843,BMG_DS065286,"Ichthyosis Congenita I | autosomal recessive congenital ichthyosis 1 | UMLS ID:C4551630 | Ichthyosis, Lamellar | MONDO:0009441 | OMIM ID:242300 | MeSH ID:D017490" +BMGC_DS16844,BMG_DS065287,Chronic pancreatitis (disorder) | Recurrent pancreatitis (disorder) | Recurrent pancreatitis | Chronic pancreatitis | SNOMEDCT ID:233870001 | UMLS ID:C4551632 | SNOMEDCT ID:15974001 +BMGC_DS16845,BMG_DS065291,"Erythrocytosis familial, 1 | UMLS ID:C4551637 | MONDO:0007572 | OMIM ID:133100 | primary familial polycythemia due to EPO receptor mutation | MeSH ID:C536842" +BMGC_DS16846,BMG_DS065292,long QT syndrome 1 | UMLS ID:C4551647 | MONDO:0100316 | Romano-Ward Syndrome | OMIM ID:192500 | MeSH ID:D029597 +BMGC_DS16847,BMG_DS065293,developmental dysplasia of the hip | UMLS ID:C4551649 | MONDO:0000158 +BMGC_DS16848,BMG_DS065294,Esophageal Stenosis | MeSH ID:D004940 | UMLS ID:C4551650 | Esophageal Stricture +BMGC_DS16849,BMG_DS065296,Retinal hemorrhage | Intraretinal hemorrhage | Retinal haemorrhage | Retinal hemorrhage (disorder) | Retinal hemorrhages | Intraretinal haemorrhage | UMLS ID:C4551659 | SNOMEDCT ID:28998008 | Retinal haemorrhages +BMGC_DS16850,BMG_DS065297,Sideroblastic anaemia | Primary sideroblastic anaemia | Refractory sideroblastic anemia | Sideroblastic anemia | Refractory sideroblastic anaemia | SNOMEDCT ID:41841004 | Primary sideroblastic anemia | Sideroachrestic anemia | UMLS ID:C4551661 | Sideroblastic anemia (disorder) | OMIM ID:MTHU038362 | Sideroachrestic anaemia +BMGC_DS16851,BMG_DS065299,"MeSH ID:D007645 | UMLS ID:C4551675 | Keratoderma, Palmoplantar" +BMGC_DS16852,BMG_DS065301,"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 | OMIM ID:259100 | hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | OMIM ID:601688 | MONDO:0024546 | UMLS ID:C4551679" +BMGC_DS16853,BMG_DS065303,"periodontitis, aggressive 1 | Periodontitis, Aggressive, 1 | OMIM ID:170650 | Aggressive Periodontitis | MONDO:0008226 | MeSH ID:D010520 | UMLS ID:C4551681" +BMGC_DS16854,BMG_DS065304,UMLS ID:C4551683 | MONDO:0004974 | adrenal gland pheochromocytoma +BMGC_DS16855,BMG_DS065307,Sleep Apnea Syndromes | UMLS ID:C4551689 | MeSH ID:D012891 | Sleep-Disordered Breathing +BMGC_DS16856,BMG_DS065308,urethral stricture | UMLS ID:C4551691 | MONDO:0002127 +BMGC_DS16857,BMG_DS065309,OMIM ID:222300 | Wolfram Syndrome 1 | MeSH ID:D014929 | Wolfram syndrome 1 | MONDO:0009101 | Wolfram Syndrome | UMLS ID:C4551693 +BMGC_DS16858,BMG_DS065310,OMIM ID:113650 | MeSH ID:D019280 | MONDO:0007236 | UMLS ID:C4551702 | Branchio-Oto-Renal Syndrome | Branchiootorenal Syndrome 1 | branchiootorenal syndrome 1 +BMGC_DS16859,BMG_DS065311,Rod-Cone Dystrophy | UMLS ID:C4551714 | MeSH ID:D000071700 | Cone-Rod Dystrophies +BMGC_DS16860,BMG_DS065312,OMIM ID:MTHU000153 | UMLS ID:C4551715 | Pigmentary retinopathy +BMGC_DS16861,BMG_DS065313,MeSH ID:D002925 | Primary Ciliary Dyskinesia | UMLS ID:C4551720 | Ciliary Motility Disorders +BMGC_DS16862,BMG_DS065314,OMIM ID:601860 | MONDO:0009300 | PERRAULT SYNDROME 1 | UMLS ID:C4551721 | Perrault syndrome 1 | OMIM ID:233400 +BMGC_DS16863,BMG_DS065315,MeSH ID:D004948 | Esotropia | Esodeviation | UMLS ID:C4551734 +BMGC_DS16864,BMG_DS065317,"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | MONDO:0000914 | UMLS ID:C4551768 | OMIM ID:600276 | OMIM ID:125310 | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1" +BMGC_DS16865,BMG_DS065318,"Epilepsy, Benign Neonatal | OMIM ID:601764 | benign familial neonatal-infantile seizures 1 | MeSH ID:D020936 | MONDO:0042499 | UMLS ID:C4551769 | Seizures, Benign Familial Infantile, 1" +BMGC_DS16866,BMG_DS065319,MONDO:0012455 | UMLS ID:C4551771 | Kleefstra syndrome (disorder) | Kleefstra syndrome | SNOMEDCT ID:724207001 +BMGC_DS16867,BMG_DS065320,DOID:0060364 | MONDO:0033005 | UMLS ID:C4551772 | Galloway-Mowat syndrome 1 | OMIM ID:251300 | GALLOWAY-MOWAT SYNDROME 1 | OMIM ID:616144 +BMGC_DS16868,BMG_DS065321,UMLS ID:C4551773 | ZIMMERMANN-LABAND SYNDROME 1 | OMIM ID:135500 | Zimmermann-Laband syndrome 1 | MONDO:0024526 | OMIM ID:603305 +BMGC_DS16869,BMG_DS065322,Feingold syndrome type 1 | OMIM ID:164280 | UMLS ID:C4551774 | MONDO:0008115 +BMGC_DS16870,BMG_DS065323,"UMLS ID:C4551775 | Knobloch syndrome 1 | MONDO:0800167 | MeSH ID:C537209 | OMIM ID:267750 | Knobloch Syndrome, Type I" +BMGC_DS16871,BMG_DS065324,Ritscher-Schinzel syndrome 1 | DOID:0060571 | MONDO:0009073 | OMIM ID:220210 | UMLS ID:C4551776 | OMIM ID:610657 | RITSCHER-SCHINZEL SYNDROME 1 +BMGC_DS16872,BMG_DS065326,Brugada Syndrome 1 | Brugada Syndrome | MeSH ID:D053840 | MONDO:0011001 | Brugada syndrome 1 | UMLS ID:C4551804 | OMIM ID:601144 +BMGC_DS16873,BMG_DS065327,MeSH ID:C537743 | Oguchi Disease 1 | Oguchi disease-1 | OMIM ID:258100 | MONDO:0009775 | UMLS ID:C4551824 +BMGC_DS16874,BMG_DS065328,UMLS ID:C4551825 | MeSH ID:C538556 | Megaloblastic Anemia 1 | Imerslund-Grasbeck syndrome | MONDO:0009853 +BMGC_DS16875,BMG_DS065329,Deafness-symphalangism syndrome of Herrmann | MeSH ID:C536943 | UMLS ID:C4551826 +BMGC_DS16876,BMG_DS065330,Muscular dystrophy (disorder) | SNOMEDCT ID:73297009 | MONDO:0016106 | Progressive muscular dystrophy | Muscular dystrophy | progressive muscular dystrophy | UMLS ID:C4551827 | SNOMEDCT ID:193225000 | Hereditary progressive muscular dystrophy (disorder) | SNOMEDCT ID:44292004 | PMD - Progressive muscular dystrophy | Hereditary progressive muscular dystrophy | MD - Muscular dystrophy +BMGC_DS16877,BMG_DS065331,Median Neuropathy | Median Nerve Entrapment | UMLS ID:C4551829 | MeSH ID:D020423 +BMGC_DS16878,BMG_DS065333,OMIM ID:122470 | Cornelia de Lange syndrome 1 | Cornelia de Lange Syndrome 1 | UMLS ID:C4551851 | De Lange Syndrome | MeSH ID:D003635 | MONDO:0007387 +BMGC_DS16879,BMG_DS065334,MONDO:0009433 | hypoplastic left heart syndrome 1 | HYPOPLASTIC LEFT HEART SYNDROME 1 | UMLS ID:C4551854 | OMIM ID:241550 +BMGC_DS16880,BMG_DS065335,OMIM ID:208500 | asphyxiating thoracic dystrophy 1 | MeSH ID:C537571 | UMLS ID:C4551856 | MONDO:0008831 | Asphyxiating Thoracic Dystrophy 1 +BMGC_DS16881,BMG_DS065336,vesicoureteral reflux 1 | MeSH ID:D014718 | OMIM ID:193000 | UMLS ID:C4551858 | Vesicoureteral Reflux 1 | MONDO:0008653 | Vesico-Ureteral Reflux +BMGC_DS16882,BMG_DS065337,Rubinstein-Taybi syndrome due to CREBBP mutations | UMLS ID:C4551859 | RUBINSTEIN-TAYBI SYNDROME 1 | OMIM ID:180849 | OMIM ID:600140 | MONDO:0008393 +BMGC_DS16883,BMG_DS065338,UMLS ID:C4551860 | Ullrich congenital muscular dystrophy (disorder) | MONDO:0000355 | Ullrich congenital muscular dystrophy | SNOMEDCT ID:240062007 | Congenita hypotonic - sclerotic muscular dystrophy +BMGC_DS16884,BMG_DS065339,"UMLS ID:C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | MONDO:0008535 | MeSH ID:D013683 | telangiectasia, hereditary hemorrhagic, type 1 | Telangiectasia, Hereditary Hemorrhagic | OMIM ID:187300" +BMGC_DS16885,BMG_DS065340,"Supranuclear Palsy, Progressive | UMLS ID:C4551862 | MeSH ID:D013494 | Ophthalmoplegia, Progressive Supranuclear" +BMGC_DS16886,BMG_DS065341,"Supranuclear Palsy, Progressive | supranuclear palsy, progressive, 1 | MeSH ID:D013494 | MONDO:0010997 | Supranuclear Palsy, Progressive, 1 | OMIM ID:601104 | UMLS ID:C4551863" +BMGC_DS16887,BMG_DS065342,UMLS ID:C4551864 | OMIM ID:607199 | VAN DER WOUDE SYNDROME 1 | MONDO:0007333 | van der Woude syndrome 1 | OMIM ID:119300 +BMGC_DS16888,BMG_DS065343,"OMIM ID:215500 | choroidal dystrophy, central areolar, 1 | UMLS ID:C4551884 | MeSH ID:C535358 | MONDO:0024539 | Choroidal Dystrophy, Central Areolar 1" +BMGC_DS16889,BMG_DS065345,OMIM ID:120100 | Cryopyrin-Associated Periodic Syndromes | Familial Cold Autoinflammatory Syndrome 1 | MONDO:0007349 | familial cold autoinflammatory syndrome 1 | UMLS ID:C4551895 | MeSH ID:D056587 +BMGC_DS16890,BMG_DS065346,"UMLS ID:C4551898 | Cholestasis, progressive familial intrahepatic 1 | DOID:0070226 | progressive familial intrahepatic cholestasis 1 | progressive familial intrahepatic cholestasis type 1 | MONDO:0008892 | MeSH ID:C535933 | OMIM ID:211600" +BMGC_DS16891,BMG_DS065347,OMIM ID:243300 | UMLS ID:C4551899 | Summerskill syndrome | MONDO:0009469 | DOID:0070226 | progressive familial intrahepatic cholestasis 1 | MeSH ID:C535933 | benign recurrent intrahepatic cholestasis type 1 +BMGC_DS16892,BMG_DS065348,OTOSCLEROSIS 1 | otosclerosis 1 | OMIM ID:166800 | UMLS ID:C4551901 | DOID:0060920 | MONDO:0008164 +BMGC_DS16893,BMG_DS065349,"Craniosynostoses | UMLS ID:C4551902 | TWIST1-related craniosynostosis | MeSH ID:D003398 | MONDO:0007399 | OMIM ID:123100 | Craniosynostosis, Type 1" +BMGC_DS16894,BMG_DS065350,UMLS ID:C4551903 | TAPVR - total anomalous pulmonary venous return | Total anomalous pulmonary venous return | MONDO:0007130 | TAPVC - total anomalous pulmonary venous connection | TAPVD - total anomalous pulmonary venous drainage | congenital total pulmonary venous return anomaly | OMIM ID:106700 | OMIM ID:MTHU019108 | SNOMEDCT ID:111323005 | Total anomalous pulmonary venous connection | Total anomalous pulmonary venous return (disorder) +BMGC_DS16895,BMG_DS065352,"primary ciliary dyskinesia 1 | OMIM ID:244400 | DOID:0050144 | Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus | UMLS ID:C4551906 | MeSH ID:D007619 | MONDO:0009484 | Kartagener syndrome | Kartagener Syndrome" +BMGC_DS16896,BMG_DS065353,UMLS ID:C4551910 | acute inflammatory demyelinating polyradiculoneuropathy | Acute Inflammatory Demyelinating Polyneuropathy | MONDO:0020347 | MeSH ID:D020275 | Guillain-Barre Syndrome +BMGC_DS16897,BMG_DS065355,van Maldergem syndrome 1 | OMIM ID:603057 | OMIM ID:601390 | VAN MALDERGEM SYNDROME 1 | Van Maldergem syndrome 1 | MONDO:0011070 | DOID:0080585 | UMLS ID:C4551950 +BMGC_DS16898,BMG_DS065356,MONDO:0008178 | inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | OMIM ID:167320 | UMLS ID:C4551951 +BMGC_DS16899,BMG_DS065357,"Myopathies, Structural, Congenital | MONDO:0008048 | UMLS ID:C4551952 | autosomal dominant centronuclear myopathy | OMIM ID:160150 | Myopathy, Centronuclear, 1 | OMIM ID:614408 | MeSH ID:D020914" +BMGC_DS16900,BMG_DS065358,"MONDO:0007933 | OMIM ID:153840 | UMLS ID:C4551953 | MACULAR DYSTROPHY, VITELLIFORM, 1 | vitelliform macular dystrophy 1" +BMGC_DS16901,BMG_DS065359,hyperekplexia 1 | UMLS ID:C4551954 | HYPEREKPLEXIA 1 | MONDO:0007868 | OMIM ID:149400 +BMGC_DS16902,BMG_DS065360,"UMLS ID:C4551955 | MONDO:0012212 | Loeys-Dietz Syndrome | OMIM ID:609192 | Loeys-Dietz Syndrome, Type 1a | Loeys-Dietz syndrome 1 | MeSH ID:D055947" +BMGC_DS16903,BMG_DS065361,"MONDO:0700090 | OMIM ID:600512 | UMLS ID:C4551957 | epilepsy, familial temporal lobe, 1" +BMGC_DS16904,BMG_DS065362,"OMIM ID:608109 | myopathy, lactic acidosis, and sideroblastic anemia 1 | MONDO:0024553 | OMIM ID:600462 | UMLS ID:C4551958 | MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 | DOID:0111185" +BMGC_DS16905,BMG_DS065363,OMIM ID:108770 | ATRIAL STANDSTILL 1 | UMLS ID:C4551959 | MONDO:0007171 | DOID:0080662 | atrial standstill 1 +BMGC_DS16906,BMG_DS065364,"spermatogenic failure, Y-linked, 1 | Sertoli Cell-Only Syndrome, Type I | UMLS ID:C4551960 | MeSH ID:C537587 | MONDO:0010763 | OMIM ID:400042" +BMGC_DS16907,BMG_DS065365,UMLS ID:C4551961 | familial isolated hyperparathyroidism | MONDO:0015027 +BMGC_DS16908,BMG_DS065366,"UMLS ID:C4551962 | ACNE INVERSA, FAMILIAL, 1 | OMIM ID:605254 | acne inversa, familial, 1 | OMIM ID:142690 | MONDO:0007728" +BMGC_DS16909,BMG_DS065367,"UMLS ID:C4551964 | OMIM ID:608630 | MONDO:0020790 | OMIM ID:607313 | gaze palsy, familial horizontal, with progressive scoliosis 1 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1" +BMGC_DS16910,BMG_DS065368,anauxetic dysplasia 1 | ANAUXETIC DYSPLASIA 1 | MONDO:0054560 | OMIM ID:607095 | UMLS ID:C4551965 | OMIM ID:157660 | DOID:0050640 +BMGC_DS16911,BMG_DS065369,glucose transporter type 1 deficiency syndrome 1 | GLUT1 DEFICIENCY SYNDROME 1 | UMLS ID:C4551966 | OMIM ID:606777 | OMIM ID:138140 | MONDO:0011724 | DOID:0070561 | encephalopathy due to GLUT1 deficiency +BMGC_DS16912,BMG_DS065370,UMLS ID:C4551967 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY | OMIM ID:607210 | OMIM ID:616452 | MONDO:0014645 | BENTA disease +BMGC_DS16913,BMG_DS065371,"Lissencephaly, X-Linked, 1 | MONDO:0010239 | UMLS ID:C4551968 | MeSH ID:D054221 | Classical Lissencephalies and Subcortical Band Heterotopias | chromosome 17p13.1 deletion syndrome | lissencephaly type 1 due to doublecortin gene mutation | OMIM ID:300067 | DOID:0060402" +BMGC_DS16914,BMG_DS065372,MeSH ID:D054091 | UMLS ID:C4551969 | Periventricular Nodular Heterotopia | Bilateral Periventricular Nodular Heterotopia +BMGC_DS16915,BMG_DS065373,"Marble Bones, Autosomal Recessive | MeSH ID:C564915 | UMLS ID:C4551971" +BMGC_DS16916,BMG_DS065374,SNOMEDCT ID:700056005 | UMLS ID:C4551972 | Mosaic variegated aneuploidy syndrome (disorder) | mosaic variegated aneuploidy syndrome | Mosaic variegated aneuploidy syndrome | MONDO:0000141 +BMGC_DS16917,BMG_DS065375,MeSH ID:C537480 | MONDO:0024545 | Miyoshi muscular dystrophy | DOID:0070198 | OMIM ID:254130 | Miyoshi Muscular Dystrophy 1 | UMLS ID:C4551973 | Miyoshi muscular dystrophy 1 +BMGC_DS16918,BMG_DS065376,"MONDO:0007485 | dyskeratosis congenita, autosomal dominant 1 | OMIM ID:602322 | autosomal dominant dyskeratosis congenita 1 | OMIM ID:127550 | DOID:0070014 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 | UMLS ID:C4551974" +BMGC_DS16919,BMG_DS065377,RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 | OMIM ID:142958 | OMIM ID:605432 | radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | UMLS ID:C4551975 | MONDO:0024558 +BMGC_DS16920,BMG_DS065378,hypotrichosis 1 | DOID:0110698 | UMLS ID:C4551976 | OMIM ID:605389 | OMIM ID:607479 | HYPOTRICHOSIS 1 | MONDO:0011549 +BMGC_DS16921,BMG_DS065380,HEIMLER SYNDROME 1 | Heimler syndrome 1 | UMLS ID:C4551980 | DOID:0080623 | OMIM ID:602136 | OMIM ID:234580 +BMGC_DS16922,BMG_DS065381,"MeSH ID:C565577 | OMIM ID:227300 | MONDO:0009206 | UMLS ID:C4551981 | factor V and factor VIII, combined deficiency of, type 1 | Familial Multiple Coagulation Factor Deficiency I" +BMGC_DS16923,BMG_DS065382,trichohepatoenteric syndrome 1 | MONDO:0024541 | DOID:0111415 | TRICHOHEPATOENTERIC SYNDROME 1 | UMLS ID:C4551982 | OMIM ID:614589 | OMIM ID:222470 +BMGC_DS16924,BMG_DS065383,"familial focal epilepsy with variable foci 1 | MONDO:0024556 | OMIM ID:614191 | UMLS ID:C4551983 | OMIM ID:604364 | DOID:0081421 | epilepsy, familial focal, with variable foci 1 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1" +BMGC_DS16925,BMG_DS065384,"MONDO:0017123 | Arthrogryposis with renal dysfunction and cholestasis syndrome | ARC (arthrogryposis, renal dysfunction, cholestasis) syndrome | Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | arthrogryposis-renal dysfunction-cholestasis syndrome | SNOMEDCT ID:720513002 | UMLS ID:C4551984" +BMGC_DS16926,BMG_DS065385,"arterial calcification, generalized, of infancy, 1 | OMIM ID:208000 | OMIM ID:173335 | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | MONDO:0008817 | UMLS ID:C4551985" +BMGC_DS16927,BMG_DS065386,AMR Syndrome | MeSH ID:C565965 | UMLS ID:C4551986 +BMGC_DS16928,BMG_DS065387,MeSH ID:C538186 | UMLS ID:C4551987 | MONDO:0100044 | acrofrontofacionasal dysostosis 1 | Acrofrontofacionasal Dysostosis 1 | OMIM ID:201180 +BMGC_DS16929,BMG_DS065388,UMLS ID:C4551988 | BLEPHAROCHEILODONTIC SYNDROME 1 | MONDO:0054740 | OMIM ID:119580 | blepharocheilodontic syndrome 1 | OMIM ID:192090 | DOID:0080345 +BMGC_DS16930,BMG_DS065390,"MONDO:0014252 | UMLS ID:C4551990 | OMIM ID:615558 | Hypobetalipoproteinemia, Familial, 1 | familial hypobetalipoproteinemia 1 | MeSH ID:C566267" +BMGC_DS16931,BMG_DS065391,DOID:0080606 | UMLS ID:C4551992 | MONDO:0007138 | ANTERIOR SEGMENT DYSGENESIS 1 | anterior segment dysgenesis 1 | OMIM ID:107250 +BMGC_DS16932,BMG_DS065392,"MONDO:0005144 | MeSH ID:C531617 | familial amyotrophic lateral sclerosis | UMLS ID:C4551993 | Amyotrophic Lateral Sclerosis, Familial" +BMGC_DS16933,BMG_DS065393,Mitochondrial DNA Depletion Syndrome 1 | mitochondrial DNA depletion syndrome 8b | MONDO:0011283 | DOID:0080127;DOID:0070331;DOID:0080119 | MeSH ID:C536350 | UMLS ID:C4551995 | mitochondrial DNA depletion syndrome 1 | OMIM ID:603041 | mitochondrial DNA depletion syndrome 8a +BMGC_DS16934,BMG_DS065394,MeSH ID:C538270 | Auriculocondylar syndrome 1 | OMIM ID:602483 | auriculocondylar syndrome 1 | UMLS ID:C4551996 | MONDO:0011234 +BMGC_DS16935,BMG_DS065395,"UMLS ID:C4551998 | OMIM ID:175780 | MONDO:0008289 | Porencephaly | MeSH ID:D065708 | OMIM ID:607595 | brain small vessel disease 1 with or without ocular anomalies | Porencephaly, Type 1, Autosomal Dominant" +BMGC_DS16936,BMG_DS065396,"UMLS ID:C4551999 | DOID:0060866 | OMIM ID:179605 | MACULAR DYSTROPHY, PATTERNED, 1 | OMIM ID:169150 | MONDO:0008210 | patterned macular dystrophy 1" +BMGC_DS16937,BMG_DS065397,MeSH ID:C537180 | episodic kinesigenic dyskinesia 1 | OMIM ID:128200 | Episodic Kinesigenic Dyskinesia 1 | UMLS ID:C4552000 | MONDO:0100352 +BMGC_DS16938,BMG_DS065398,MEIER-GORLIN SYNDROME 1 | MONDO:0009143 | OMIM ID:224690 | DOID:0080512 | Meier-Gorlin syndrome 1 | OMIM ID:601902 | UMLS ID:C4552001 +BMGC_DS16939,BMG_DS065399,MONDO:0010194 | WEILL-MARCHESANI SYNDROME 1 | OMIM ID:608990 | OMIM ID:277600 | UMLS ID:C4552002 | Weill-Marchesani syndrome 1 +BMGC_DS16940,BMG_DS065400,"UMLS ID:C4552003 | Galactosyltransferase I deficiency | OMIM ID:130070 | Xylosylprotein 4-beta-galactosyltransferase deficiency | SNOMEDCT ID:720861000 | Ehlers-Danlos syndrome progeroid type (disorder) | Defective biosynthesis of proteodermatan sulfate | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome) | Defective biosynthesis of proteodermatan sulphate | Ehlers-Danlos syndrome progeroid type | MONDO:0020682" +BMGC_DS16941,BMG_DS065401,Distal Myopathy 1 | UMLS ID:C4552004 | MYH7-related skeletal myopathy | Distal Myopathies | MONDO:0008050 | OMIM ID:160500 | MeSH ID:D049310 +BMGC_DS16942,BMG_DS065402,OMIM ID:MTHU037332 | Gonadotropin deficiency | UMLS ID:C4552011 +BMGC_DS16943,BMG_DS065404,OMIM ID:613129 | UMLS ID:C4552029 | CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 | cerebroretinal microangiopathy with calcifications and cysts 1 | MONDO:0024564 | OMIM ID:612199 +BMGC_DS16944,BMG_DS065405,"UMLS ID:C4552030 | Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus | MeSH ID:C567504" +BMGC_DS16945,BMG_DS065406,MeSH ID:C567657 | Cortical Dysplasia-Focal Epilepsy Syndrome | DOID:0090130 | UMLS ID:C4552043 | cortical dysplasia-focal epilepsy syndrome +BMGC_DS16946,BMG_DS065407,ABDOMINAL OBESITY-METABOLIC SYNDROME 1 | metabolic syndrome X | OMIM ID:605552 | UMLS ID:C4552048 | MONDO:0011565 +BMGC_DS16947,BMG_DS065408,"UMLS ID:C4552049 | focal nonepidermolytic palmoplantar keratoderma 1 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 | OMIM ID:613000 | palmoplantar keratoderma, nonepidermolytic, focal 1 | DOID:0111709 | MONDO:0013073 | OMIM ID:148067" +BMGC_DS16948,BMG_DS065409,"pulmonary hypertension, primary, 1 | OMIM ID:178600 | Pulmonary Hypertension, Primary, 1 | MeSH ID:D065627 | Familial Primary Pulmonary Hypertension | MONDO:0024533 | UMLS ID:C4552070" +BMGC_DS16949,BMG_DS065410,MeSH ID:C567924 | Infantile Epileptic-Dyskinetic Encephalopathy | MONDO:0018226 | infantile epileptic-dyskinetic encephalopathy | UMLS ID:C4552072 +BMGC_DS16950,BMG_DS065411,MONDO:0020789 | DOID:0050656 | OMIM ID:251290 | OMIM ID:602876 | pseudo-TORCH syndrome 1 | PSEUDO-TORCH SYNDROME 1 | UMLS ID:C4552078 +BMGC_DS16951,BMG_DS065412,UMLS ID:C4552079 | Premature Ovarian Failure 1 | Primary Ovarian Insufficiency | MONDO:0010706 | OMIM ID:311360 | MeSH ID:D016649 | premature ovarian failure 1 +BMGC_DS16952,BMG_DS065413,"DOID:0090107 | UMLS ID:C4552089 | autosomal dominant hypocalcemia 1 | OMIM ID:601198 | OMIM ID:601199 | HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME" +BMGC_DS16953,BMG_DS065414,"Arthritis, Juvenile | UMLS ID:C4552091 | MeSH ID:D001171 | Polyarthritis, Juvenile, Rheumatoid Factor Negative" +BMGC_DS16954,BMG_DS065415,OMIM ID:179850 | MeSH ID:C562924 | MONDO:0024534 | UMLS ID:C4552092 | Dowling-Degos disease 1 +BMGC_DS16955,BMG_DS065416,"MeSH ID:D054000 | Nevus, Sebaceous of Jadassohn | MONDO:0008097 | linear nevus sebaceous syndrome | OMIM ID:163200 | UMLS ID:C4552097 | Nevus Sebaceus of Jadassohn" +BMGC_DS16956,BMG_DS065417,"UMLS ID:C4552100 | MeSH ID:D003123 | Colorectal Neoplasms, Hereditary Nonpolyposis | MONDO:0005835 | Lynch syndrome | Lynch Syndrome | DOID:3883" +BMGC_DS16957,BMG_DS065420,UMLS ID:C4552294 | HAE (hereditary angioedema) with C1Inh (C1 esterase inhibitor) deficiency | Hereditary angioneurotic oedema with C1 inhibitor deficiency | OMIM ID:106100 | MONDO:0033946 | Hereditary angioneurotic edema with C1 inhibitor deficiency | Hereditary angioedema with C1 esterase inhibitor deficiency (disorder) | Hereditary angioedema with C1 esterase inhibitor deficiency | Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency | hereditary angioedema with C1Inh deficiency | SNOMEDCT ID:1230015008 +BMGC_DS16958,BMG_DS065423,"UMLS ID:C4552543 | Thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly syndrome | TAFRO syndrome | Thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly syndrome (disorder) | MeSH ID:C537372 | TAFRO (thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly) syndrome | MONDO:0018702 | SNOMEDCT ID:1187615007 | Castleman-Kojima disease" +BMGC_DS16959,BMG_DS065438,"absence epilepsy | DOID:0070309 | Epilepsy, Minor | UMLS ID:C4552765 | Epilepsy, Absence | MeSH ID:D004832" +BMGC_DS16960,BMG_DS065441,UMLS ID:C4553297 | Cystic Echinococcosis | Echinococcosis | cystic echinococcosis | MeSH ID:D004443 | MONDO:0018408 +BMGC_DS16961,BMG_DS065445,MeSH ID:D063766 | UMLS ID:C4553478 | Infantile Obesity | Pediatric Obesity +BMGC_DS16962,BMG_DS065449,"absence epilepsy | DOID:0070309 | UMLS ID:C4553705 | Absence Seizure Disorder | Epilepsy, Absence | MeSH ID:D004832" +BMGC_DS16963,BMG_DS065452,"UMLS ID:C4553889 | Carney complex, trismus, pseudocamptodactyly syndrome | Carney complex, trismus, pseudocamptodactyly syndrome (disorder) | SNOMEDCT ID:766881008 | Carney complex variant" +BMGC_DS16964,BMG_DS065453,UMLS ID:C4553954 | specific language disorder | MONDO:0016226 +BMGC_DS16965,BMG_DS065454,MeSH ID:D020427 | UMLS ID:C4554052 | Common Peroneal Nerve Entrapment | Peroneal Neuropathies +BMGC_DS16966,BMG_DS065455,Leukoencephalopathy with ataxia | Leucoencephalopathy with mild cerebellar ataxia and white matter oedema | CLCN2 (chloride voltage-gated channel 2) related leucoencephalopathy | leukoencephalopathy with mild cerebellar ataxia and white matter edema | CLCN2-related leukoencephalopathy | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy | CLCN2-related leucoencephalopathy | MONDO:0014292 | OMIM ID:615651 | UMLS ID:C4554120 | SNOMEDCT ID:768663003 | Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) | Leucoencephalopathy with ataxia +BMGC_DS16967,BMG_DS065498,"OMIM ID:617883 | Fanconi anemia complementation group S | MONDO:0054748 | Fanconi anemia, complementation group S | FANCONI ANEMIA, COMPLEMENTATION GROUP S | OMIM ID:113705 | UMLS ID:C4554406 | DOID:0060979" +BMGC_DS16968,BMG_DS065499,"amyloidosis, primary localized cutaneous, 3 | primary localized cutaneous amyloidosis 3 | UMLS ID:C4554421 | OMIM ID:604368 | DOID:0080932 | OMIM ID:617920 | MONDO:0054765 | AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3" +BMGC_DS16969,BMG_DS065500,Pressure injury | Pressure injury (morphologic abnormality) | decubitus ulcer | MONDO:0004646 | SNOMEDCT ID:1163215007 | UMLS ID:C4554531 | SNOMEDCT ID:1163214006 | DOID:8717 | Pressure injury (disorder) +BMGC_DS16970,BMG_DS065501,MONDO:0017906 | Amyloidosis cutis dyschromia (disorder) | Amyloidosis cutis dyschromica | SNOMEDCT ID:764849002 | Amyloidosis cutis dyschromia | amyloidosis cutis dyschromia | UMLS ID:C4554601 +BMGC_DS16971,BMG_DS065505,"MONDO:0008319 | OMIM ID:612386 | UMLS ID:C4692546 | protoporphyria, erythropoietic, 1 | PROTOPORPHYRIA, ERYTHROPOIETIC, 1 | OMIM ID:177000" +BMGC_DS16972,BMG_DS065506,"OMIM ID:601756 | OMIM ID:211900 | UMLS ID:C4692564 | MONDO:0100252 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | tumoral calcinosis, hyperphosphatemic, familial, 1" +BMGC_DS16973,BMG_DS065507,mandibulofacial dysostosis with mental deficiency | MONDO:0009559 | MANDIBULOFACIAL DYSOSTOSIS WITH IMPAIRED INTELLECTUAL DEVELOPMENT | OMIM ID:248400 | UMLS ID:C4692584 +BMGC_DS16974,BMG_DS065508,UMLS ID:C4692625 | OMIM ID:260400 | Shwachman-Diamond syndrome 1 | MONDO:0044204 | SHWACHMAN-DIAMOND SYNDROME 1 | OMIM ID:607444 +BMGC_DS16975,BMG_DS065509,"MONDO:0049222 | intellectual disability, X-linked 107 | UMLS ID:C4692652 | OMIM ID:301013" +BMGC_DS16976,BMG_DS065510,"OMIM ID:606798 | MONDO:0100532 | blepharospasm, benign essential, susceptibility to | UMLS ID:C4692845" +BMGC_DS16977,BMG_DS065512,"DOID:0081119;DOID:0060685 | benign familial infantile seizures 6 | autosomal dominant nocturnal frontal lobe epilepsy 4 | OMIM ID:610353 | SEIZURES, BENIGN FAMILIAL INFANTILE, 6 | OMIM ID:118502 | UMLS ID:C4692954" +BMGC_DS16978,BMG_DS065515,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ibb | MONDO:0800353 | UMLS ID:C4693133 | congenital disorder of glycosylation, type Ibb | OMIM ID:613861" +BMGC_DS16979,BMG_DS065517,"UMLS ID:C4693325 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | OMIM ID:617820 | neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | MONDO:0060629" +BMGC_DS16980,BMG_DS065518,OMIM ID:611565 | ALKURAYA-KUCINSKAS SYNDROME | OMIM ID:617822 | MONDO:0060631 | DOID:0111555 | Alkuraya-Kucinskas syndrome | UMLS ID:C4693347 +BMGC_DS16981,BMG_DS065520,OMIM ID:617829 | DOID:0080471 | developmental and epileptic encephalopathy 92 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 | MONDO:0020631 | OMIM ID:600232 | UMLS ID:C4693362 +BMGC_DS16982,BMG_DS065521,"MONDO:0033367 | OMIM ID:617830 | DOID:0080285 | UMLS ID:C4693367 | developmental and epileptic encephalopathy, 58 | developmental and epileptic encephalopathy 58 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58" +BMGC_DS16983,BMG_DS065522,"DOID:0080227 | intellectual disability, autosomal dominant 55, with seizures | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES | MONDO:0030921 | OMIM ID:617831 | OMIM ID:610463 | UMLS ID:C4693371 | autosomal dominant intellectual developmental disorder 55" +BMGC_DS16984,BMG_DS065523,UMLS ID:C4693376 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | MONDO:0044326 | OMIM ID:617836 | developmental delay and seizures with or without movement abnormalities | OMIM ID:608172 | DOID:0080473 +BMGC_DS16985,BMG_DS065524,amyotrophic lateral sclerosis type 23 | UMLS ID:C4693381 | OMIM ID:617839 | MONDO:0027694 +BMGC_DS16986,BMG_DS065525,"OMIM ID:617854 | intellectual disability, autosomal dominant 56 | MONDO:0030922 | UMLS ID:C4693389" +BMGC_DS16987,BMG_DS065526,"DOID:0060934 | MONDO:0060640 | OMIM ID:617862 | OMIM ID:610397 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY | UMLS ID:C4693390 | neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" +BMGC_DS16988,BMG_DS065527,neurodevelopmental disorder with or without seizures and gait abnormalities | UMLS ID:C4693391 | OMIM ID:617864 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES | MONDO:0060641 +BMGC_DS16989,BMG_DS065528,"OMIM ID:615951 | neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | MONDO:0060642 | UMLS ID:C4693405 | OMIM ID:617865 | NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES" +BMGC_DS16990,BMG_DS065531,OMIM ID:617866 | UMLS ID:C4693420 | MONDO:0036483 | OMIM ID:614068 | DOID:0080293 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY | short-rib thoracic dysplasia 18 with polydactyly +BMGC_DS16991,BMG_DS065532,MONDO:0036482 | OMIM ID:614068 | OMIM ID:617871 | retinitis pigmentosa 81 | DOID:0080292 | UMLS ID:C4693443 | RETINITIS PIGMENTOSA 81 +BMGC_DS16992,BMG_DS065533,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (disorder) | Syndromic sensorineural hearing loss due to COXPD (combined oxidative phosphorylation defect) | SNOMEDCT ID:1260133007 | OMIM ID:617872 | combined oxidative phosphorylation deficiency 34 | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Syndromic sensorineural deafness due to COXPD (combined oxidative phosphorylation defect) | UMLS ID:C4693450 | MONDO:0054741 +BMGC_DS16993,BMG_DS065534,DOID:0111464 | OMIM ID:617873 | combined oxidative phosphorylation deficiency 35 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | MONDO:0054742 | OMIM ID:617840 | UMLS ID:C4693466 +BMGC_DS16994,BMG_DS065535,polycystic liver disease 3 with or without kidney cysts | DOID:0060976 | POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS | polycystic liver disease 3 | OMIM ID:617874 | MONDO:0054743 | UMLS ID:C4693472 +BMGC_DS16995,BMG_DS065536,polycystic liver disease 4 | UMLS ID:C4693479 | DOID:0060977 | MONDO:0044327 | polycystic liver disease 4 with or without kidney cysts | OMIM ID:617875 | OMIM ID:603506 | POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS +BMGC_DS16996,BMG_DS065538,Leber congenital amaurosis with early-onset deafness | OMIM ID:617879 | UMLS ID:C4693498 | LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS | DOID:0112240 | MONDO:0060650 +BMGC_DS16997,BMG_DS065539,"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | DOID:0080294 | OMIM ID:162280 | UMLS ID:C4693509 | OMIM ID:617882 | Charcot-Marie-Tooth disease dominant intermediate G | MONDO:0036484 | Charcot-Marie-Tooth disease, dominant intermediate G" +BMGC_DS16998,BMG_DS065540,"UMLS ID:C4693523 | amyotrophic lateral sclerosis, susceptibility to, 24 | MONDO:0054750 | OMIM ID:617892" +BMGC_DS16999,BMG_DS065541,UMLS ID:C4693524 | MONDO:0033485 | DOID:0080295 | SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY | OMIM ID:617895 | short-rib thoracic dysplasia 19 with or without polydactyly +BMGC_DS17000,BMG_DS065542,multiple synostoses syndrome 4 | UMLS ID:C4693531 | MONDO:0054752 | MULTIPLE SYNOSTOSES SYNDROME 4 | OMIM ID:601147 | OMIM ID:617898 | DOID:0081320 +BMGC_DS17001,BMG_DS065543,"MONDO:0033486 | OMIM ID:617899 | DOID:0080296 | OMIM ID:610553 | hypomyelinating leukodystrophy 14 | LEUKODYSTROPHY, HYPOMYELINATING, 14 | UMLS ID:C4693535 | leukodystrophy, hypomyelinating, 14" +BMGC_DS17002,BMG_DS065544,"OMIM ID:617900 | encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | MONDO:0054754 | UMLS ID:C4693542" +BMGC_DS17003,BMG_DS065545,OMIM ID:607340 | neurodevelopmental disorder with poor language and loss of hand skills | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | MONDO:0060659 | OMIM ID:617903 | UMLS ID:C4693546 +BMGC_DS17004,BMG_DS065546,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 | developmental and epileptic encephalopathy 59 | OMIM ID:607340 | UMLS ID:C4693550 | MONDO:0033368 | DOID:0080291 | OMIM ID:617904 | developmental and epileptic encephalopathy, 59" +BMGC_DS17005,BMG_DS065547,"erythrocytosis, familial, 5 | UMLS ID:C4693552 | MONDO:0033483 | OMIM ID:617907 | DOID:0080290 | OMIM ID:133170 | familial erythrocytosis 5 | ERYTHROCYTOSIS, FAMILIAL, 5" +BMGC_DS17006,BMG_DS065548,DIAMOND-BLACKFAN ANEMIA-LIKE | OMIM ID:617911 | OMIM ID:133170 | MONDO:0060662 | UMLS ID:C4693556 | Diamond-Blackfan anemia-like +BMGC_DS17007,BMG_DS065549,"OMIM ID:617912 | congenital heart defects, multiple types, 5 | UMLS ID:C4693563 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 | MONDO:0060663 | OMIM ID:611496" +BMGC_DS17008,BMG_DS065550,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | UMLS ID:C4693567 | OMIM ID:617913 | neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | MONDO:0060664 | DOID:0081263 | OMIM ID:606969" +BMGC_DS17009,BMG_DS065551,"OMIM ID:617914 | MONDO:0054761 | UMLS ID:C4693572 | microcephaly 20, primary, autosomal recessive" +BMGC_DS17010,BMG_DS065552,"OMIM ID:617915 | UMLS ID:C4693578 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | MONDO:0060666 | OMIM ID:602618" +BMGC_DS17011,BMG_DS065553,neurodegeneration with brain iron accumulation 7 | MONDO:0054763 | UMLS ID:C4693583 | OMIM ID:617916 | OMIM ID:614825 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 +BMGC_DS17012,BMG_DS065554,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 | neurodegeneration with brain iron accumulation 8 | MONDO:0054764 | OMIM ID:600184 | UMLS ID:C4693587 | OMIM ID:617917 +BMGC_DS17013,BMG_DS065555,"UMLS ID:C4693609 | amyotrophic lateral sclerosis, susceptibility to, 25 | OMIM ID:617921 | MONDO:0060670" +BMGC_DS17014,BMG_DS065556,"epilepsy, juvenile myoclonic, susceptibility to, 10 | MONDO:0060671 | OMIM ID:617924 | UMLS ID:C4693613" +BMGC_DS17015,BMG_DS065557,SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY | OMIM ID:617925 | OMIM ID:610621 | MONDO:0044328 | short-rib thoracic dysplasia 20 with polydactyly | UMLS ID:C4693616 +BMGC_DS17016,BMG_DS065558,DOID:0080289 | orofaciodigital syndrome 17 | OROFACIODIGITAL SYNDROME XVII | orofaciodigital syndrome XVII | OMIM ID:610621 | MONDO:0033375 | UMLS ID:C4693640 | OMIM ID:617926 +BMGC_DS17017,BMG_DS065559,OMIM ID:617878 | OMIM ID:617928 | keratoconus 9 | UMLS ID:C4693660 | KERATOCONUS 9 | MONDO:0054771 +BMGC_DS17018,BMG_DS065560,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 | MONDO:0033369 | OMIM ID:610774 | OMIM ID:617929 | developmental and epileptic encephalopathy, 60 | developmental and epileptic encephalopathy 60 | DOID:0080432 | UMLS ID:C4693663" +BMGC_DS17019,BMG_DS065561,MONDO:0060677 | chromosome 1p35 deletion syndrome | OMIM ID:617930 | UMLS ID:C4693669 | CHROMOSOME 1p35 DELETION SYNDROME +BMGC_DS17020,BMG_DS065562,"PADDAS syndrome | PUM1-associated developmental disability, ataxia, seizure syndrome | SNOMEDCT ID:1260097007 | MONDO:0033482 | OMIM ID:617931 | Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | SCA47 - spinocerebellar ataxia type 47 | spinocerebellar ataxia 47 | UMLS ID:C4693672 | Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)" +BMGC_DS17021,BMG_DS065563,"MONDO:0033370 | DOID:0080434 | UMLS ID:C4693688 | developmental and epileptic encephalopathy, 61 | OMIM ID:617933 | OMIM ID:603709 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 | developmental and epileptic encephalopathy 61" +BMGC_DS17022,BMG_DS065564,"epilepsy, familial focal, with variable foci 4 | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | familial focal epilepsy with variable foci 4 | MONDO:0054776 | OMIM ID:182391 | OMIM ID:617935 | DOID:0081424 | UMLS ID:C4693694" +BMGC_DS17023,BMG_DS065565,"MONDO:0033371 | DOID:0080420 | OMIM ID:617938 | OMIM ID:182391 | developmental and epileptic encephalopathy 62 | developmental and epileptic encephalopathy, 62 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62 | UMLS ID:C4693699" +BMGC_DS17024,BMG_DS065566,SHWACHMAN-DIAMOND SYNDROME 2 | Shwachman-Diamond syndrome 2 | OMIM ID:617941 | MONDO:0044205 | UMLS ID:C4693704 | OMIM ID:617538 +BMGC_DS17025,BMG_DS065567,UMLS ID:C4693722 | combined oxidative phosphorylation deficiency 36 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 | DOID:0111482 | MONDO:0054781 | OMIM ID:611971 | OMIM ID:617950 +BMGC_DS17026,BMG_DS065568,"leukodystrophy, hypomyelinating, 15 | hypomyelinating leukodystrophy 15 | UMLS ID:C4693733 | OMIM ID:138295 | DOID:0070398 | MONDO:0054782 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | OMIM ID:617951" +BMGC_DS17027,BMG_DS065569,"UMLS ID:C4693736 | MONDO:0044329 | OSTEOGENESIS IMPERFECTA, TYPE XVIII | osteogenesis imperfecta type 18 | DOID:0111848 | OMIM ID:617952 | osteogenesis imperfecta, type 18 | OMIM ID:611357" +BMGC_DS17028,BMG_DS065570,OMIM ID:617954 | multiple mitochondrial dysfunctions syndrome 6 | Multiple mitochondrial dysfunctions syndrome type 6 | UMLS ID:C4693741 | Multiple mitochondrial dysfunctions syndrome type 6 (disorder) | SNOMEDCT ID:1279891002 | PMPCB (peptidase mitochondrial processing subunit beta) deficiency | PMPCB deficiency | MONDO:0054785 +BMGC_DS17029,BMG_DS065571,UMLS ID:C4693751 | OMIM ID:617949 | spermatogenic failure 24 | MONDO:0054728 | OMIM ID:617959 | DOID:0111929 | SPERMATOGENIC FAILURE 24 +BMGC_DS17030,BMG_DS065572,OMIM ID:617960 | DOID:0111920 | UMLS ID:C4693765 | OMIM ID:605795 | spermatogenic failure 25 | MONDO:0054729 | SPERMATOGENIC FAILURE 25 +BMGC_DS17031,BMG_DS065574,SPERMATOGENIC FAILURE 26 | DOID:0111924 | spermatogenic failure 26 | OMIM ID:607166 | OMIM ID:617961 | UMLS ID:C4693773 | MONDO:0054730 +BMGC_DS17032,BMG_DS065575,"LEUKODYSTROPHY, HYPOMYELINATING, 16 | hypomyelinating leukodystrophy 16 | UMLS ID:C4693779 | OMIM ID:613413 | OMIM ID:617964 | MONDO:0054791 | leukodystrophy, hypomyelinating, 16 | DOID:0070405" +BMGC_DS17033,BMG_DS065576,spermatogenic failure 27 | SPERMATOGENIC FAILURE 27 | MONDO:0054731 | UMLS ID:C4693784 | DOID:0111928 | OMIM ID:617965 | OMIM ID:615364 +BMGC_DS17034,BMG_DS065577,"OMIM ID:111700 | UMLS ID:C4693796 | RH-NULL, AMORPH TYPE | OMIM ID:617970" +BMGC_DS17035,BMG_DS065578,"OMIM ID:617973 | MONDO:0020835 | UMLS ID:C4693798 | methemoglobinemia, alpha type | METHEMOGLOBINEMIA, ALPHA TYPE" +BMGC_DS17036,BMG_DS065579,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE | MONDO:0060702 | spondyloepimetaphyseal dysplasia, di rocco type | OMIM ID:617974 | OMIM ID:611482 | UMLS ID:C4693799" +BMGC_DS17037,BMG_DS065580,"OMIM ID:605032 | developmental and epileptic encephalopathy, 63 | UMLS ID:C4693810 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 | MONDO:0033372 | developmental and epileptic encephalopathy 63 | OMIM ID:617976 | DOID:0080426" +BMGC_DS17038,BMG_DS065581,NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | UMLS ID:C4693816 | MONDO:0060704 | OMIM ID:617977 | OMIM ID:609226 +BMGC_DS17039,BMG_DS065582,"erythrocytosis, familial, 6 | OMIM ID:617980 | UMLS ID:C4693822 | DOID:0111632 | familial erythrocytosis 6 | ERYTHROCYTOSIS, FAMILIAL, 6 | MONDO:0054801" +BMGC_DS17040,BMG_DS065583,"ERYTHROCYTOSIS, FAMILIAL, 7 | DOID:0111631 | UMLS ID:C4693823 | familial erythrocytosis 7 | MONDO:0054802 | OMIM ID:617981 | erythrocytosis, familial, 7" +BMGC_DS17041,BMG_DS065584,VERVERI-BRADY SYNDROME | OMIM ID:617387 | Ververi-Brady syndrome | UMLS ID:C4693824 | MONDO:0060707 | OMIM ID:617982 +BMGC_DS17042,BMG_DS065585,"MONDO:0054804 | MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE | UMLS ID:C4693831 | OMIM ID:615638 | OMIM ID:617983 | microcephaly 21, primary, autosomal recessive" +BMGC_DS17043,BMG_DS065586,"MONDO:0054805 | MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE | OMIM ID:609276 | microcephaly 22, primary, autosomal recessive | OMIM ID:617984 | UMLS ID:C4693834" +BMGC_DS17044,BMG_DS065587,"OMIM ID:617985 | microcephaly 23, primary, autosomal recessive | OMIM ID:602332 | UMLS ID:C4693843 | MONDO:0054806 | MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE" +BMGC_DS17045,BMG_DS065588,JABERI-ELAHI SYNDROME | OMIM ID:607434 | MONDO:0060711 | OMIM ID:617988 | Jaberi-Elahi syndrome | UMLS ID:C4693848 +BMGC_DS17046,BMG_DS065589,"PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome | OMIM ID:617991 | Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome | MONDO:0035133 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome (disorder) | Pleckstrin homology domain interacting protein-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | Chung Jansen syndrome | UMLS ID:C4693860 | SNOMEDCT ID:1208987006" +BMGC_DS17047,BMG_DS065590,"OMIM ID:617993 | tumoral calcinosis, hyperphosphatemic, familial, 2 | UMLS ID:C4693863 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 | MONDO:0060714" +BMGC_DS17048,BMG_DS065591,"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 | OMIM ID:617994 | tumoral calcinosis, hyperphosphatemic, familial, 3 | UMLS ID:C4693864 | MONDO:0060715" +BMGC_DS17049,BMG_DS065592,MONDO:0020837 | oocyte maturation defect 5 | OMIM ID:617996 | UMLS ID:C4693865 +BMGC_DS17050,BMG_DS065593,"SNOMEDCT ID:1255121003 | Classical-like Ehlers-Danlos syndrome type 2 (disorder) | AEBP1-related EDS (Ehlers-Danlos syndrome) | OMIM ID:618000 | AEBP1-related Ehlers-Danlos syndrome | Ehlers-Danlos syndrome, classic-like, 2 | MONDO:0054813 | UMLS ID:C4693870 | Classical-like Ehlers-Danlos syndrome type 2" +BMGC_DS17051,BMG_DS065594,"DEAFNESS, AUTOSOMAL RECESSIVE 57 | autosomal recessive nonsyndromic deafness 57 | OMIM ID:618003 | OMIM ID:612971 | MONDO:0033201 | UMLS ID:C4693893 | hearing loss, autosomal recessive 57 | DOID:0111635" +BMGC_DS17052,BMG_DS065595,"DOID:0070375 | OMIM ID:618004 | developmental and epileptic encephalopathy, 64 | developmental and epileptic encephalopathy 64 | MONDO:0033373 | OMIM ID:607352 | UMLS ID:C4693899 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64" +BMGC_DS17053,BMG_DS065596,CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 | MONDO:0060720 | OMIM ID:618005 | congenital disorder of glycosylation with defective fucosylation | OMIM ID:602589 | UMLS ID:C4693905 +BMGC_DS17054,BMG_DS065597,"UMLS ID:C4693912 | OMIM ID:618006 | OMIM ID:600859 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | hypomyelinating leukodystrophy 17 | leukodystrophy, hypomyelinating, 17 | DOID:0070404 | MONDO:0054817" +BMGC_DS17055,BMG_DS065598,"developmental and epileptic encephalopathy 65 | DOID:0080430 | UMLS ID:C4693925 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 | OMIM ID:618008 | OMIM ID:606323 | developmental and epileptic encephalopathy, 65 | MONDO:0033374" +BMGC_DS17056,BMG_DS065599,DOID:0080581 | OMIM ID:614452 | HYPEREKPLEXIA 4 | hyperekplexia 4 | UMLS ID:C4693933 | OMIM ID:618011 | MONDO:0044330 +BMGC_DS17057,BMG_DS065600,OMIM ID:618012 | developmental and epileptic encephalopathy 93 | MONDO:0020632 | UMLS ID:C4693934 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 | DOID:0112275 | OMIM ID:607027 +BMGC_DS17058,BMG_DS065601,"MONDO:0033202 | OMIM ID:618013 | UMLS ID:C4693935 | autosomal recessive nonsyndromic deafness 109 | OMIM ID:612959 | DEAFNESS, AUTOSOMAL RECESSIVE 109 | DOID:0111639 | hearing loss, autosomal recessive 109" +BMGC_DS17059,BMG_DS065602,OMIM ID:618014 | OMIM ID:601918 | DOID:0080871 | UMLS ID:C4693941 | premature ovarian failure 14 | MONDO:0044777 | PREMATURE OVARIAN FAILURE 14 | primary ovarian insufficiency 14 +BMGC_DS17060,BMG_DS065603,"PROTOPORPHYRIA, ERYTHROPOIETIC, 2 | UMLS ID:C4693947 | OMIM ID:618015 | protoporphyria, erythropoietic, 2 | OMIM ID:615611 | MONDO:0060729" +BMGC_DS17061,BMG_DS065604,"DRUG METABOLISM, ALTERED, CYP2C8-RELATED | UMLS ID:C4693948 | OMIM ID:601129 | OMIM ID:618018" +BMGC_DS17062,BMG_DS065616,"OMIM ID:176763 | DOID:0050715 | UMLS ID:C4693974 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | OMIM ID:277400 | OMIM ID:609831 | methylmalonic aciduria and homocystinuria type cblC" +BMGC_DS17063,BMG_DS065639,"HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE | UMLS ID:C4694049 | OMIM ID:141900" +BMGC_DS17064,BMG_DS065640,17-beta hydroxysteroid dehydrogenase 3 deficiency | OMIM ID:264300 | UMLS ID:C4694050 | POLYCYSTIC OVARY SYNDROME DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY | DOID:0112248 +BMGC_DS17065,BMG_DS065642,MONDO:0005500 | congenital disorder of glycosylation type I | UMLS ID:C4700504 +BMGC_DS17066,BMG_DS065657,Tessier number 4 facial cleft | OMIM ID:600251 | MONDO:0010850 | UMLS ID:C4703420 +BMGC_DS17067,BMG_DS065658,Severe Cytomegalovirus Infection | MeSH ID:D003586 | UMLS ID:C4703481 | Cytomegalovirus Infections +BMGC_DS17068,BMG_DS065665,DOID:0050795 | Stationary Cone Dystrophy | Cone Dystrophy | cone dystrophy | MeSH ID:D000077765 | UMLS ID:C4704791 +BMGC_DS17069,BMG_DS065666,"Arthritis, Juvenile | UMLS ID:C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | MeSH ID:D001171" +BMGC_DS17070,BMG_DS065667,"MeSH ID:D002181 | UMLS ID:C4704876 | Genital Vulvovaginal Candidiasis | Candidiasis, Vulvovaginal" +BMGC_DS17071,BMG_DS065668,Fibrous Dysplasia of Bone | UMLS ID:C4704884 | MeSH ID:D005357 | Fibrocystic Dysplasia of Bone +BMGC_DS17072,BMG_DS065669,Fibrocartilaginous Dysplasia of Bone | MeSH ID:D005357 | UMLS ID:C4704885 | Fibrous Dysplasia of Bone +BMGC_DS17073,BMG_DS065670,"Pregnancy Complications, Infectious | MeSH ID:D011251 | Maternal Sepsis | UMLS ID:C4704910" +BMGC_DS17074,BMG_DS065671,MeSH ID:D020425 | Posterior Interosseous Nerve Syndrome | Radial Neuropathy | UMLS ID:C4704934 +BMGC_DS17075,BMG_DS065672,MeSH ID:D020428 | Femoral Neuropathy | UMLS ID:C4704935 | Femoral Nerve Dysfunction +BMGC_DS17076,BMG_DS065675,Monosomy 2q33.1 | UMLS ID:C4706258 | SNOMEDCT ID:763062006 | 2q33.1 microdeletion syndrome (disorder) | MONDO:0016653 | 2q33.1 microdeletion syndrome +BMGC_DS17077,BMG_DS065678,MONDO:0013977 | Combined oxidative phosphorylation defect type 13 (disorder) | combined oxidative phosphorylation defect type 13 | SNOMEDCT ID:763110007 | OMIM ID:614932 | COXPD13 - combined oxidative phosphorylation defect type 13 | UMLS ID:C4706283 | Combined oxidative phosphorylation defect type 13 +BMGC_DS17078,BMG_DS065683,SNOMEDCT ID:763203009 | MONDO:0013987 | Combined oxidative phosphorylation defect type 15 | combined oxidative phosphorylation defect type 15 | COXPD15 - combined oxidative phosphorylation defect type 15 | OMIM ID:614947 | Combined oxidative phosphorylation defect type 15 (disorder) | UMLS ID:C4706313 +BMGC_DS17079,BMG_DS065684,OMIM ID:614582 | SNOMEDCT ID:763209008 | Combined oxidative phosphorylation defect type 9 | combined oxidative phosphorylation defect type 9 | COXPD9 - combined oxidative phosphorylation defect type 9 | UMLS ID:C4706315 | Combined oxidative phosphorylation defect type 9 (disorder) | MONDO:0013811 +BMGC_DS17080,BMG_DS065685,COXPD21 - combined oxidative phosphorylation defect type 21 | UMLS ID:C4706316 | OMIM ID:615918 | Combined oxidative phosphorylation defect type 21 | MONDO:0014398 | Combined oxidative phosphorylation defect type 21 (disorder) | combined oxidative phosphorylation defect type 21 | SNOMEDCT ID:763211004 +BMGC_DS17081,BMG_DS065695,"Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | UMLS ID:C4706367 | Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder) | SNOMEDCT ID:763280005" +BMGC_DS17082,BMG_DS065696,acute myeloid leukemia with NPM1 somatic mutations | MONDO:0018437 | UMLS ID:C4706386 +BMGC_DS17083,BMG_DS065700,congenital myopathy with myasthenic-like onset | Congenital myopathy with myasthenic-like onset | Congenital myopathy with myasthenic-like onset (disorder) | UMLS ID:C4706390 | SNOMEDCT ID:763315005 | MONDO:0018528 +BMGC_DS17084,BMG_DS065703,"Connective tissue disorder due to LH3 deficiency | SNOMEDCT ID:763318007 | Bone fragillity, contractures, arterial rupture, deafness syndrome | Connective tissue disorder due to lysyl hydroxylase-3 deficiency (disorder) | Bone fragility, contractures, arterial rupture, deafness syndrome | Connective tissue disorder due to lysyl hydroxylase-3 deficiency | UMLS ID:C4706393" +BMGC_DS17085,BMG_DS065704,"MONDO:0014149 | Fetal akinesia, cerebral and retinal haemorrhage syndrome | UMLS ID:C4706410 | SNOMEDCT ID:763346009 | Lethal congenital contracture syndrome type 5 | Fetal akinesia, cerebral and retinal hemorrhage syndrome | Foetal akinesia, cerebral and retinal haemorrhage syndrome | fetal akinesia-cerebral and retinal hemorrhage syndrome | OMIM ID:615368 | Fetal akinesia, cerebral and retinal hemorrhage syndrome (disorder)" +BMGC_DS17086,BMG_DS065705,MONDO:0018129 | Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency | UMLS ID:C4706412 | Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder) | autosomal recessive cerebellar ataxia with late-onset spasticity | Autosomal recessive cerebellar ataxia with late-onset spasticity | SNOMEDCT ID:763348005 +BMGC_DS17087,BMG_DS065706,UMLS ID:C4706413 | Progressive myoclonic epilepsy with dystonia | Progressive myoclonus epilepsy with dystonia | progressive myoclonic epilepsy with dystonia | MONDO:0018126 | Progressive myoclonic epilepsy with dystonia (disorder) | SNOMEDCT ID:763349002 +BMGC_DS17088,BMG_DS065707,"Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Autosomal recessive intellectual disability due to TRAPPC9 (trafficking protein particle complex 9) deficiency | UMLS ID:C4706414 | MONDO:0018123 | Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome (disorder) | intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | SNOMEDCT ID:763350002" +BMGC_DS17089,BMG_DS065708,"Spectrin-associated autosomal recessive cerebellar ataxia | UMLS ID:C4706415 | OMIM ID:615386 | autosomal recessive spinocerebellar ataxia 14 | Spectrin-associated autosomal recessive cerebellar ataxia type 1 | Spectrin-associated autosomal recessive cerebellar ataxia (disorder) | Autosomal recessive spinocerebellar ataxia type 14 | Autosomal recessive cerebellar ataxia, cognitive defect syndrome | MONDO:0014159 | SNOMEDCT ID:763351003" +BMGC_DS17090,BMG_DS065709,"SNOMEDCT ID:763366000 | Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) | MONDO:0013971 | OMIM ID:614924 | UMLS ID:C4706421 | Combined oxidative phosphorylation defect type 12 | Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome | COXPD12 - combined oxidative phosphorylation defect type 12 | leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" +BMGC_DS17091,BMG_DS065710,Familial progressive hyperpigmentation and hypopigmentation of skin (disorder) | Familial progressive hyper and hypopigmentation | UMLS ID:C4706423 | familial progressive hyper- and hypopigmentation | MONDO:0017239 | Familial progressive hyperpigmentation and hypopigmentation of skin | SNOMEDCT ID:763368004 +BMGC_DS17092,BMG_DS065719,Distal monosomy 3p | OMIM ID:613792 | Distal monosomy 3p syndrome (disorder) | MONDO:0013424 | 3p- syndrome | Distal monosomy 3p syndrome | SNOMEDCT ID:763528002 | UMLS ID:C4706503 | 3p syndrome | Distal 3p deletion +BMGC_DS17093,BMG_DS065722,hot water reflex epilepsy | Hot water reflex epilepsy | UMLS ID:C4706506 | SNOMEDCT ID:763534009 | MONDO:0013229 | Hot water reflex epilepsy (disorder) +BMGC_DS17094,BMG_DS065728,UMLS ID:C4706524 | Severe combined immunodeficiency due to CTPS1 deficiency | SNOMEDCT ID:763623001 | Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder) | Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency +BMGC_DS17095,BMG_DS065732,"Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder) | SNOMEDCT ID:763688008 | Deafness, encephaloneuropathy, obesity, valvulopathy syndrome | UMLS ID:C4706538 | Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome" +BMGC_DS17096,BMG_DS065733,ICL - idiopathic CD4 lymphocytopenia | SNOMEDCT ID:763713000 | Idiopathic CD4 lymphocytopenia (disorder) | Idiopathic CD4 lymphocytopenia | UMLS ID:C4706550 +BMGC_DS17097,BMG_DS065734,familial hyperprolactinemia | Familial hyperprolactinemia (disorder) | SNOMEDCT ID:763715007 | UMLS ID:C4706551 | Familial hyperprolactinaemia | OMIM ID:615555 | Familial isolated prolactin receptor deficiency | MONDO:0014250 | Familial hyperprolactinemia +BMGC_DS17098,BMG_DS065735,UMLS ID:C4706552 | MONDO:0017329 | familial vesicoureteral reflux +BMGC_DS17099,BMG_DS065737,SNOMEDCT ID:763721006 | OMIM ID:611094 | UMLS ID:C4706555 | adenosine kinase deficiency | OMIM ID:614300 | MONDO:0100255 | Hypermethioninaemia encephalopathy due to ADK (adenosine kinase) deficiency | Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase | Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) | Hypermethioninemia encephalopathy due to ADK (adenosine kinase) deficiency | Hypermethioninemia encephalopathy due to deficiency of adenosine kinase +BMGC_DS17100,BMG_DS065738,"Hypotonia, speech impairment, severe cognitive delay syndrome | UMLS ID:C4706556 | MONDO:0014176 | hypotonia, infantile, with psychomotor retardation and characteristic facies | IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome | Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) | SNOMEDCT ID:763722004" +BMGC_DS17101,BMG_DS065740,"alacrima, achalasia, and intellectual disability syndrome | MONDO:0014219 | SNOMEDCT ID:763741001 | OMIM ID:615510 | UMLS ID:C4706563 | Intellectual disability, alacrima, achalasia syndrome | Intellectual disability, alacrima, achalasia syndrome (disorder)" +BMGC_DS17102,BMG_DS065744,Macrocephaly and developmental delay syndrome | UMLS ID:C4706573 | Macrocephaly and developmental delay syndrome (disorder) | SNOMEDCT ID:763773007 +BMGC_DS17103,BMG_DS065745,SNOMEDCT ID:763776004 | KLHL9-related early-onset distal myopathy | Kelch like family member 9 related early-onset distal myopathy | MONDO:0018370 | Kelch like family member 9 related early-onset distal myopathy (disorder) | UMLS ID:C4706574 +BMGC_DS17104,BMG_DS065746,"Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome | Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) | SNOMEDCT ID:763778003 | Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type | Larsen-like syndrome B3GAT3 type | UMLS ID:C4706575" +BMGC_DS17105,BMG_DS065749,MONDO:0018436 | megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) | UMLS ID:C4706584 +BMGC_DS17106,BMG_DS065750,"Microcephalus, complex motor and sensory axonal neuropathy syndrome (disorder) | UMLS ID:C4706585 | MONDO:0018507 | Microcephaly, complex motor and sensory axonal neuropathy syndrome | SNOMEDCT ID:763798008 | Microcephalus, complex motor and sensory axonal neuropathy syndrome | microcephaly-complex motor and sensory axonal neuropathy syndrome" +BMGC_DS17107,BMG_DS065752,Oculoauricular syndrome Schorderet type (disorder) | SNOMEDCT ID:763815000 | UMLS ID:C4706592 | Oculoauricular syndrome Schorderet type +BMGC_DS17108,BMG_DS065757,"Oro-facial digital syndrome type 14 | Microcephaly, cerebral malformation, orofaciodigital syndrome | Orofaciodigital syndrome type 14 | orofaciodigital syndrome type 14 | OMIM ID:615948 | SNOMEDCT ID:763837007 | UMLS ID:C4706604 | MONDO:0014413 | Oro-facial digital syndrome type 14 (disorder)" +BMGC_DS17109,BMG_DS065760,SHOX (short stature homeobox) related short stature | UMLS ID:C4706613 | Short stature homeobox related short stature | SHOX-related short stature | SNOMEDCT ID:763868006 | Short stature homeobox related short stature (disorder) +BMGC_DS17110,BMG_DS065782,Spondyloperipheral dysplasia with short ulna syndrome | UMLS ID:C4706658 | Spondyloperipheral dysplasia with short ulna syndrome (disorder) | SNOMEDCT ID:763886009 +BMGC_DS17111,BMG_DS065785,Short stature with delayed bone age due to thyroid hormone metabolism deficiency | UMLS ID:C4706661 | SNOMEDCT ID:763890006 | Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) +BMGC_DS17112,BMG_DS065786,"Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Ataxia, delayed dentition, hypomyelination syndrome | UMLS ID:C4706676 | SNOMEDCT ID:764095005" +BMGC_DS17113,BMG_DS065787,SNOMEDCT ID:764096006 | MONDO:0018394 | male infertility with teratozoospermia due to single gene mutation | UMLS ID:C4706677 | Male infertility with teratozoospermia due to single gene mutation | Male infertility with teratozoospermia due to single gene mutation (disorder) +BMGC_DS17114,BMG_DS065795,SNOMEDCT ID:764108000 | Wooly hair with palmoplantar keratoderma syndrome | DOID:0070554 | Wooly hair with palmoplantar keratoderma syndrome (disorder) | Woolly hair with palmoplantar keratoderma syndrome | Keratoderma with wooly hair type IV | UMLS ID:C4706686 | palmoplantar keratoderma and woolly hair | Keratoderma with woolly hair type IV +BMGC_DS17115,BMG_DS065826,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Carbonic anhydrase VA deficiency | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | CA5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | UMLS ID:C4706871 | SNOMEDCT ID:764456001 | Carbonic anhydrase 5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | CA-VA (carbonic anhydrase VA) deficiency +BMGC_DS17116,BMG_DS065837,familial isolated trichomegaly | MONDO:0018472 | UMLS ID:C4706941 +BMGC_DS17117,BMG_DS065845,UMLS ID:C4707092 | MONDO:0016839 | SNOMEDCT ID:764696007 | Distal monosomy 17p13.3 | Distal 17p13.3 microdeletion syndrome | distal 17p13.3 microdeletion syndrome | Distal 17p13.3 microdeletion syndrome (disorder) +BMGC_DS17118,BMG_DS065849,"SNOMEDCT ID:764733009 | PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome | UMLS ID:C4707098 | Progressive external ophthalmoplegia, myopathy, emaciation syndrome | Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency | Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)" +BMGC_DS17119,BMG_DS065853,autosomal recessive myogenic arthrogryposis multiplex congenita | MONDO:0017892 | Autosomal recessive myogenic arthrogryposis multiplex congenita | SNOMEDCT ID:764812008 | SYNE1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita | SYNE1-related arthrogryposis multiplex congenita | Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) | UMLS ID:C4707155 +BMGC_DS17120,BMG_DS065854,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder) | SNOMEDCT ID:764730007 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation | UMLS ID:C4707173 | MONDO:0017940 | autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation +BMGC_DS17121,BMG_DS065855,UMLS ID:C4707178 | MONDO:0017894 | acute myeloid leukemia with CEBPA somatic mutations +BMGC_DS17122,BMG_DS065857,"SNOMEDCT ID:764857004 | Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | UMLS ID:C4707180 | Absent tibia polydactyly syndrome | Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome (disorder)" +BMGC_DS17123,BMG_DS065859,MONDO:0017893 | UMLS ID:C4707228 | inherited acute myeloid leukemia +BMGC_DS17124,BMG_DS065860,"SNOMEDCT ID:764942005 | Microphthalmia, coloboma, rhizomelic skeletal dysplasia | UMLS ID:C4707229 | Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Colobomatous microphthalmia, rhizomelic dysplasia syndrome" +BMGC_DS17125,BMG_DS065861,SNOMEDCT ID:764945007 | OMIM ID:614807 | Congenital myopathy with internal nuclei and atypical cores (disorder) | congenital myopathy with internal nuclei and atypical cores | Congenital myopathy with internal nuclei and atypical cores | UMLS ID:C4707232 | MONDO:0013890 | Centronuclear myopathy type 4 +BMGC_DS17126,BMG_DS065865,SNOMEDCT ID:764958008 | MONDO:0018865 | Keratosis palmoplantaris varians of Wachters | Keratosis palmoplantaris striata et areata | striate palmoplantar keratoderma | Striate palmoplantar keratoderma (disorder) | Keratosis palmoplantaris striata | Striate palmoplantar keratoderma | UMLS ID:C4707237 +BMGC_DS17127,BMG_DS065866,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 | SNOMEDCT ID:764960005 | MONDO:0017337 | 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) +BMGC_DS17128,BMG_DS065867,SNOMEDCT ID:764962002 | Hepatoencephalopathy due to COXPD1 (combined oxidative phosphorylation defect type 1) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | UMLS ID:C4707239 +BMGC_DS17129,BMG_DS065869,Familial thoracic aortic aneurysm and aortic dissection | MONDO:0019625 | familial thoracic aortic aneurysm and aortic dissection | SNOMEDCT ID:764965000 | UMLS ID:C4707243 | Familial TAAD (thoracic aortic aneurysm aortic dissection) | Familial thoracic aortic aneurysm and aortic dissection (disorder) +BMGC_DS17130,BMG_DS065872,Muscle filaminopathy | SNOMEDCT ID:764992006 | UMLS ID:C4707258 | Muscle filaminopathy (disorder) +BMGC_DS17131,BMG_DS065878,"SNOMEDCT ID:765089003 | Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) | UMLS ID:C4707306 | focal epilepsy-intellectual disability-cerebro-cerebellar malformation | MONDO:0018125 | Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome | Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome" +BMGC_DS17132,BMG_DS065879,"UMLS ID:C4707308 | rolandic epilepsy-speech dyspraxia syndrome | Rolandic epilepsy, speech dyspraxia syndrome | MONDO:0015587 | Rolandic epilepsy, speech dyspraxia syndrome (disorder) | SNOMEDCT ID:765093009" +BMGC_DS17133,BMG_DS065881,SNOMEDCT ID:765137006 | Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency | Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) | UMLS ID:C4707328 | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | Methylmalonic acidaemia due to methylmalonyl-CoA racemase deficiency | MCEE-gene related methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency | Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency | Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency | MCEE-gene related methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency | Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency +BMGC_DS17134,BMG_DS065886,UMLS ID:C4707333 | MONDO:0017190 | sporadic pheochromocytoma/secreting paraganglioma +BMGC_DS17135,BMG_DS065887,T-B+ severe combined immunodeficiency due to gamma chain deficiency | SCIDX1 - severe combined immunodeficiency X-linked | SNOMEDCT ID:765145001 | T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder) | T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | UMLS ID:C4707334 +BMGC_DS17136,BMG_DS065890,Severe combined immunodeficiency due to complete RAG1 (recombination activating gene 1) and/or RAG2 (recombination activating gene 2) deficiency | Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency | UMLS ID:C4707355 | SCID (severe combined immunodeficiency) due to complete RAG1/2 deficiency | Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency (disorder) | Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency | SNOMEDCT ID:765188009 +BMGC_DS17137,BMG_DS065892,Familial generalized lentiginosis | Familial generalised lentiginosis | Familial lentigines profusa | Familial multiple lentigines syndrome without systemic involvement | UMLS ID:C4707357 | SNOMEDCT ID:765195000 | Familial generalized lentiginosis (disorder) +BMGC_DS17138,BMG_DS065893,Distal myotilinopathy (disorder) | UMLS ID:C4707358 | SNOMEDCT ID:765196004 | Distal myotilinopathy +BMGC_DS17139,BMG_DS065894,UMLS ID:C4707359 | symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier | MONDO:0016097 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier (disorder) | SNOMEDCT ID:765197008 +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 (disorder) | Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | UMLS ID:C4707403 | SNOMEDCT ID:765327005" +BMGC_DS17142,BMG_DS065929,Acute infantile encephalopathy predominantly affecting frontal lobe | UMLS ID:C4707658 | SNOMEDCT ID:766044005 | acute encephalopathy with biphasic seizures and late reduced diffusion | MONDO:0018198 | Acute encephalopathy with biphasic seizures and late reduced diffusion | Acute encephalopathy with biphasic seizures and late reduced diffusion (disorder) +BMGC_DS17143,BMG_DS065933,SNOMEDCT ID:766050000 | Distal monosomy 15q syndrome (disorder) | UMLS ID:C4707662 | Distal monosomy 15q | Distal monosomy 15q syndrome | 15q26 deletion syndrome | Distal 15q deletion syndrome | Monosomy 15q26 | Telomeric 15q deletion syndrome +BMGC_DS17144,BMG_DS065953,Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder) | UMLS ID:C4707798 | SNOMEDCT ID:766717008 | MONDO:0015627 | multiple epiphyseal dysplasia due to collagen 9 anomaly | Multiple epiphyseal dysplasia due to collagen 9 anomaly +BMGC_DS17145,BMG_DS065962,SNOMEDCT ID:766766005 | 1p31p32 microdeletion syndrome | Monosomy 1p31p32 | 1p31p32 microdeletion syndrome (disorder) | UMLS ID:C4707828 | chromosome 1p32-p31 deletion syndrome | MONDO:0013396 +BMGC_DS17146,BMG_DS065963,UMLS ID:C4707829 | Autosomal recessive spastic paraplegia type 67 (disorder) | Autosomal recessive spastic paraplegia type 67 | MONDO:0018419 | autosomal recessive spastic paraplegia type 67 | SNOMEDCT ID:766767001 +BMGC_DS17147,BMG_DS065968,UMLS ID:C4707848 | Short stature due to GHSR (growth hormone secretagogue receptor) deficiency | Short stature due to GHSR deficiency | Ghrelin receptor deficiency | Short stature due to growth hormone secretagogue receptor deficiency | SNOMEDCT ID:766817004 | Short stature due to growth hormone secretagogue receptor deficiency (disorder) +BMGC_DS17148,BMG_DS065969,UMLS ID:C4707849 | X-linked non progressive cerebellar ataxia | X-linked spinocerebellar ataxia type 5 | X-linked non progressive cerebellar ataxia (disorder) | SNOMEDCT ID:766818009 +BMGC_DS17149,BMG_DS065971,"Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) | Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome | UMLS ID:C4707851 | SNOMEDCT ID:766821006" +BMGC_DS17150,BMG_DS065974,SNOMEDCT ID:766871009 | MONDO:0017868 | diencephalic-mesencephalic junction dysplasia | UMLS ID:C4707858 | Diencephalic mesencephalic junction dysplasia | Diencephalic mesencephalic junction dysplasia (disorder) +BMGC_DS17151,BMG_DS065977,Combined immunodeficiency with childhood-onset Kaposi sarcoma | Combined immunodeficiency due to OX40 deficiency | UMLS ID:C4707864 | Combined immunodeficiency due to OX40 deficiency (disorder) | SNOMEDCT ID:766879006 +BMGC_DS17152,BMG_DS065978,Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation | UMLS ID:C4707865 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | SNOMEDCT ID:766883006 | Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation (disorder) +BMGC_DS17153,BMG_DS065980,UMLS ID:C4707882 | SNOMEDCT ID:766931003 | Hypomyelination neuropathy arthrogryposis syndrome (disorder) | Hypomyelination neuropathy arthrogryposis syndrome +BMGC_DS17154,BMG_DS065983,MONDO:0017112 | isolated unilateral hemispheric cerebellar hypoplasia | UMLS ID:C4707885 +BMGC_DS17155,BMG_DS065986,Severe early-onset axonal neuropathy due to mitofusin 2 deficiency | Severe early-onset axonal neuropathy due to MFN2 (mitofusin 2) deficiency | SNOMEDCT ID:766977007 | severe early-onset axonal neuropathy due to MFN2 deficiency | UMLS ID:C4707897 | Autosomal recessive Charcot-Marie-Tooth disease Ouvrier type | MONDO:0019549 | Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) | Severe early-onset axonal neuropathy due to MFN2 deficiency +BMGC_DS17156,BMG_DS065991,UMLS ID:C4707940 | Immunodeficiency due to ficolin-3 deficiency | Immunodeficiency due to ficolin 3 deficiency (disorder) | SNOMEDCT ID:766705006 | Immunodeficiency due to ficolin 3 deficiency +BMGC_DS17157,BMG_DS066017,SNOMEDCT ID:767657005 | UMLS ID:C4708167 | Anemia due to and following chemotherapy | Anemia due to and following chemotherapy (disorder) | Anaemia due to and following chemotherapy +BMGC_DS17158,BMG_DS066048,"Purine rich element binding protein A syndrome (disorder) | Purine rich element binding protein A syndrome | PURA-related severe neonatal hypotonia, seizure, encephalopathy syndrome | PURA syndrome | SNOMEDCT ID:768473009 | PURA (purine rich element binding protein A) syndrome | PURA-related neurodevelopmental disorder | UMLS ID:C4708498" +BMGC_DS17159,BMG_DS066052,"severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | MONDO:0017811 | Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion | UMLS ID:C4708510 | 5q31.3 microdeletion syndrome | 5q31.3 microdeletion syndrome (disorder) | SNOMEDCT ID:768555009" +BMGC_DS17160,BMG_DS066077,UMLS ID:C4708599 | MONDO:0020354 | coloboma of choroid and retina +BMGC_DS17161,BMG_DS066092,Vaso-occlusive pain episode in sickle cell disease | Vaso-occlusive pain co-occurrent and due to sickle cell disease | SNOMEDCT ID:769167005 | Vasoocclusive pain episode in sickle cell disease | Vaso-occlusive pain co-occurrent and due to sickle cell disease (disorder) | UMLS ID:C4708695 +BMGC_DS17162,BMG_DS066184,Phoria | UMLS ID:C4721400 | MeSH ID:D013285 | Latent squint | Phoria (disorder) | Strabismus | ICD10 ID:H50.5 | ICD11 ID:9C80.4 | Heterophoria | SNOMEDCT ID:14619009 +BMGC_DS17163,BMG_DS066185,"angioma serpiginosum, X-linked | UMLS ID:C4721404 | MONDO:0010391 | OMIM ID:300652 | Angioma serpiginosum, X-linked | MeSH ID:C536366" +BMGC_DS17164,BMG_DS066188,UMLS ID:C4721414 | MONDO:0018876 | mantle cell lymphoma +BMGC_DS17165,BMG_DS066189,"UMLS ID:C4721429 | MONDO:0008567 | thyroid cancer, nonmedullary, 1 | OMIM ID:188550" +BMGC_DS17166,BMG_DS066190,"Charcot-Marie-Tooth disease type 4E | NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE | OMIM ID:129010 | MONDO:0011527 | OMIM ID:605253 | UMLS ID:C4721436" +BMGC_DS17167,BMG_DS066191,"MeSH ID:C535301 | UMLS ID:C4721437 | Charcot-Marie-Tooth disease, Type 4E" +BMGC_DS17168,BMG_DS066196,Peripheral Nervous System Diseases | UMLS ID:C4721453 | MeSH ID:D010523 +BMGC_DS17169,BMG_DS066197,MONDO:0008227 | Peripheral dysostosis (disorder) | SNOMEDCT ID:773985008 | UMLS ID:C4721502 | Peripheral dysostosis | OMIM ID:170700 | peripheral dysostosis +BMGC_DS17170,BMG_DS066199,"Pulmonary Fibrosis | MeSH ID:D011658 | Alveolitis, Fibrosing | UMLS ID:C4721507" +BMGC_DS17171,BMG_DS066200,UMLS ID:C4721509 | MeSH ID:D054990 | Idiopathic Pulmonary Fibrosis | Usual Interstitial Pneumonia +BMGC_DS17172,BMG_DS066201,"UMLS ID:C4721532 | MONDO:0011508 | OMIM ID:605027 | lymphoma, non-Hodgkin, familial" +BMGC_DS17173,BMG_DS066202,OMIM ID:214100 | peroxisome biogenesis disorder 1A | PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | MONDO:0008953 | UMLS ID:C4721541 | DOID:0080476 | peroxisome biogenesis disorder 1A (Zellweger) | OMIM ID:602136 +BMGC_DS17174,BMG_DS066203,Autosomal dominant neovascular inflammatory vitreoretinopathy | MONDO:0100450 | Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) | SNOMEDCT ID:770791000 | OMIM ID:193235 | CAPN5-related vitreoretinopathy | UMLS ID:C4721549 +BMGC_DS17175,BMG_DS066204,UMLS ID:C4721555 | Autoimmune hepatitis (disorder) | autoimmune hepatitis | Chronic active hepatitis (disorder) | MONDO:0016264 | SNOMEDCT ID:68784009 | Chronic active hepatitis | OMIM ID:MTHU067664 | Autoimmune hepatitis | ICD11 ID:DB96.0 | ICD10 ID:K75.4 | SNOMEDCT ID:408335007 +BMGC_DS17176,BMG_DS066205,ovarian carcinoma | MONDO:0005140 | UMLS ID:C4721610 +BMGC_DS17177,BMG_DS066207,MONDO:0008988 | MeSH ID:D020159 | Citrullinemia Type 1 | citrullinemia type I | Citrullinemia | UMLS ID:C4721769 | 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 | MeSH ID:D008382 | Marfan Syndrome" +BMGC_DS17180,BMG_DS066213,"MONDO:0021018 | autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | UMLS ID:C4721885 | OMIM ID:611332 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 | OMIM ID:603511" +BMGC_DS17181,BMG_DS066214,"OMIM ID:605906 | MONDO:0012277 | DOID:0080095 | myofibrillar myopathy 4 | OMIM ID:609452 | MYOPATHY, MYOFIBRILLAR, 4 | UMLS ID:C4721886" +BMGC_DS17182,BMG_DS066215,"OMIM ID:609260 | Charcot-Marie-Tooth disease type 2A2 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A | UMLS ID:C4721887 | MONDO:0012231" +BMGC_DS17183,BMG_DS066216,DOID:0080143 | MeSH ID:C580012 | Congenital External Ophthalmoplegia | UMLS ID:C4721888 | congenital fibrosis of the extraocular muscles +BMGC_DS17184,BMG_DS066217,OMIM ID:608480 | MONDO:0011720 | SPERMATOGENIC FAILURE 3 | OMIM ID:606766 | UMLS ID:C4721889 | spermatogenic failure 3 | DOID:0070168 +BMGC_DS17185,BMG_DS066218,"OMIM ID:604307 | CATARACT 2, MULTIPLE TYPES | cataract 2, multiple types | UMLS ID:C4721890 | MONDO:0100436" +BMGC_DS17186,BMG_DS066219,"UMLS ID:C4721891 | HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT | renal hypomagnesemia 5 with ocular involvement | OMIM ID:610036 | MONDO:0009548 | OMIM ID:248190" +BMGC_DS17187,BMG_DS066221,UMLS ID:C4721893 | MONDO:0020749 | OMIM ID:221770 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | OMIM ID:604142 +BMGC_DS17188,BMG_DS066222,"MONDO:0010877 | Charcot-Marie-Tooth disease type 5 | MeSH ID:D015419 | OMIM ID:600361 | UMLS ID:C4721916 | Hereditary Motor-Sensory Neuropathy with Pyramidal Signs | Spastic Paraplegia, Hereditary" +BMGC_DS17189,BMG_DS066224,Familial Idiopathic Pulmonary Fibrosis | MeSH ID:D054990 | UMLS ID:C4721952 | Idiopathic Pulmonary Fibrosis +BMGC_DS17190,BMG_DS066228,prothrombin deficiency | MeSH ID:D007020 | Hypoprothrombinemias | UMLS ID:C4722227 | MONDO:0024307 +BMGC_DS17191,BMG_DS066229,"OMIM ID:618231 | epidermodysplasia verruciformis, susceptibility to, 2 | UMLS ID:C4722258 | MONDO:0032614" +BMGC_DS17192,BMG_DS066230,"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV | OMIM ID:139191 | UMLS ID:C4722273 | isolated growth hormone deficiency, type 4 | MONDO:0032567 | OMIM ID:618157" +BMGC_DS17193,BMG_DS066232,"neuropathy, congenital hypomyelinating, 2 | UMLS ID:C4722277 | MONDO:0020765 | OMIM ID:159440 | OMIM ID:618184 | NEUROPATHY, CONGENITAL HYPOMYELINATING, 2" +BMGC_DS17194,BMG_DS066234,"HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | OMIM ID:243700 | combined immunodeficiency due to DOCK8 deficiency | hyper IgE recurrent infection syndrome 2 | DOID:0080594 | UMLS ID:C4722305 | MONDO:0009478" +BMGC_DS17195,BMG_DS066237,"MONDO:0011098 | UMLS ID:C4722327 | prostate cancer, hereditary, 1 | OMIM ID:601518" +BMGC_DS17196,BMG_DS066239,generalized resistance to thyroid hormone | MeSH ID:D018382 | UMLS ID:C4722330 | Generalized Thyroid Hormone Resistance | Thyroid Hormone Resistance Syndrome | MONDO:0009043 +BMGC_DS17197,BMG_DS066242,UMLS ID:C4722422 | MOYAMOYA DISEASE 6 WITH ACHALASIA | OMIM ID:139396 +BMGC_DS17198,BMG_DS066243,"MONDO:0020853 | OMIM ID:618113 | encephalitis/encephalopathy, mild, with reversible myelin vacuolization | OMIM ID:608329 | ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION | UMLS ID:C4722446" +BMGC_DS17199,BMG_DS066244,Familial cold urticaria with common variable immunodeficiency | PLCG2-associated antibody deficiency and immune dysregulation | Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | PLCG2 (phospholipase C gamma 2) associated antibody deficiency and immune dysregulation | SNOMEDCT ID:773646003 | FACU - familial atypical cold urticaria | Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation | UMLS ID:C4722480 +BMGC_DS17200,BMG_DS066247,"epidermodysplasia verruciformis, susceptibility to, 1 | UMLS ID:C4722564 | MONDO:0100045 | OMIM ID:226400" +BMGC_DS17201,BMG_DS066252,UMLS ID:C4727832 | MONDO:0100137 | telomere syndrome +BMGC_DS17202,BMG_DS066256,PIK3CA-related overgrowth spectrum | MONDO:1040002 | UMLS ID:C4728213 +BMGC_DS17203,BMG_DS066278,LYMPHATIC MALFORMATION 5 | lymphatic malformation 5 | UMLS ID:C4746631 | MONDO:0007920 | OMIM ID:153200 +BMGC_DS17204,BMG_DS066279,"ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | autosomal recessive Alport syndrome | OMIM ID:120131 | OMIM ID:203780 | MONDO:0008762 | UMLS ID:C4746745 | DOID:0110033" +BMGC_DS17205,BMG_DS066280,"UMLS ID:C4746755 | OMIM ID:210900 | MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1" +BMGC_DS17206,BMG_DS066281,MONDO:0009123 | OMIM ID:609312 | OMIM ID:223360 | orthostatic hypotension 1 | UMLS ID:C4746777 | ORTHOSTATIC HYPOTENSION 1 +BMGC_DS17207,BMG_DS066284,proteasome-associated autoinflammatory syndrome 1 | OMIM ID:256040 | UMLS ID:C4746851 | MONDO:0054698 +BMGC_DS17208,BMG_DS066290,"UMLS ID:C4746956 | osteogenesis imperfecta, type 19 | OMIM ID:301014 | MONDO:0049223" +BMGC_DS17209,BMG_DS066291,"MONDO:0060455 | OMIM ID:300516 | DOID:0111846 | UMLS ID:C4746970 | X-linked congenital hemolytic anemia | OMIM ID:301015 | HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED" +BMGC_DS17210,BMG_DS066292,"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | UMLS ID:C4746975 | MONDO:0044702 | DOID:0111738 | OMIM ID:300969 | OMIM ID:301018 | X-linked deafness 7 | DEAFNESS, X-LINKED 7" +BMGC_DS17211,BMG_DS066293,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 | UMLS ID:C4746984 | OMIM ID:300078 | nuclear type mitochondrial complex I deficiency 12 | DOID:0112099 | MONDO:0026720 | mitochondrial complex 1 deficiency, nuclear type 12 | OMIM ID:301020" +BMGC_DS17212,BMG_DS066294,"mitochondrial complex 1 deficiency, nuclear type 30 | nuclear type mitochondrial complex I deficiency 30 | OMIM ID:301021 | OMIM ID:300403 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 | UMLS ID:C4746985 | DOID:0112098 | MONDO:0026721" +BMGC_DS17213,BMG_DS066295,"OMIM ID:303630 | OMIM ID:301050 | MONDO:0010520 | DOID:0110034 | UMLS ID:C4746986 | ALPORT SYNDROME 1, X-LINKED | X-linked Alport syndrome" +BMGC_DS17214,BMG_DS066296,"mitochondrial complex 1 deficiency, mitochondrial type 1 | UMLS ID:C4746992 | mitochondrial type mitochondrial complex I deficiency 1 | MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 | OMIM ID:500014 | OMIM ID:516002 | MONDO:0027068 | DOID:0112101" +BMGC_DS17215,BMG_DS066297,OMIM ID:608354 | capillary malformation-arteriovenous malformation 1 | MONDO:0020783 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | OMIM ID:608355 | UMLS ID:C4747394 | OMIM ID:139150 +BMGC_DS17216,BMG_DS066298,"OMIM ID:611103 | UMLS ID:C4747517 | acyl-CoA dehydrogenase 9 deficiency | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 | OMIM ID:611126 | MONDO:0012624" +BMGC_DS17217,BMG_DS066299,UMLS ID:C4747568 | lymphatic malformation 2 | LYMPHATIC MALFORMATION 2 | DOID:0070211 | OMIM ID:611944 | MONDO:0012765 | hereditary lymphedema IB +BMGC_DS17218,BMG_DS066301,LYMPHATIC MALFORMATION 3 | OMIM ID:613480 | DOID:0070208 | UMLS ID:C4747646 | MONDO:0013278 | lymphatic malformation 3 | OMIM ID:608803 | hereditary lymphedema IC +BMGC_DS17219,BMG_DS066302,"UMLS ID:C4747658 | MONDO:0800356 | short-rib thoracic dysplasia 7/20 with polydactyly, digenic" +BMGC_DS17220,BMG_DS066303,MONDO:0014121 | OMIM ID:615290 | autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | UMLS ID:C4747715 +BMGC_DS17221,BMG_DS066304,MONDO:0014186 | RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS | retinitis pigmentosa with or without situs inversus | OMIM ID:615434 | OMIM ID:615407 | UMLS ID:C4747737 +BMGC_DS17222,BMG_DS066305,immunodeficiency 15B | OMIM ID:603258 | severe combined immunodeficiency due to IKK2 deficiency | IMMUNODEFICIENCY 15B | OMIM ID:615592 | MONDO:0014267 | UMLS ID:C4747743 | DOID:0111959 +BMGC_DS17223,BMG_DS066306,lymphatic malformation 4 | UMLS ID:C4747769 | OMIM ID:601528 | hereditary lymphedema ID | OMIM ID:615907 | LYMPHATIC MALFORMATION 4 | DOID:0070209 | MONDO:0014393 +BMGC_DS17224,BMG_DS066308,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | DOID:0060916 | UMLS ID:C4747850 | proteasome-associated autoinflammatory syndrome 3 | MONDO:0054699 | OMIM ID:617591 +BMGC_DS17225,BMG_DS066309,"hydrocephalus, congenital, 3, with brain anomalies | HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES | OMIM ID:617967 | MONDO:0054794 | UMLS ID:C4747885 | OMIM ID:614218" +BMGC_DS17226,BMG_DS066310,OMIM ID:600154 | UMLS ID:C4747891 | glycosylphosphatidylinositol biosynthesis defect 17 | OMIM ID:618010 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 | MONDO:0060724 +BMGC_DS17227,BMG_DS066311,OMIM ID:618019 | Regressive spondylometaphyseal dysplasia (disorder) | Regressive spondylometaphyseal dysplasia | UMLS ID:C4747922 | regressive spondylometaphyseal dysplasia | MONDO:0018663 | SNOMEDCT ID:1237412001 +BMGC_DS17228,BMG_DS066312,OMIM ID:610575 | DOID:0112193 | UMLS ID:C4747923 | OMIM ID:618021 | tetraamelia syndrome 2 | MONDO:0060732 | TETRAAMELIA SYNDROME 2 +BMGC_DS17229,BMG_DS066313,UMLS ID:C4747940 | MONDO:0060733 | OMIM ID:618022 | humerofemoral hypoplasia with radiotibial ray deficiency +BMGC_DS17230,BMG_DS066314,OMIM ID:601671 | Coffin-Siris syndrome 7 | UMLS ID:C4747954 | DOID:0112369 | MONDO:0054831 | OMIM ID:618027 | COFFIN-SIRIS SYNDROME 7 +BMGC_DS17231,BMG_DS066315,"corneal dystrophy, posterior polymorphous, 4 | OMIM ID:608576 | CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 | DOID:0080669 | posterior polymorphous corneal dystrophy 4 | MONDO:0054832 | OMIM ID:618031 | UMLS ID:C4747961" +BMGC_DS17232,BMG_DS066316,"MONDO:0054833 | DOID:0111558 | OMIM ID:618036 | Charcot-Marie-Tooth disease type 2DD | UMLS ID:C4747974 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | charcot-marie-tooth disease, axonal, type 2DD | OMIM ID:182310" +BMGC_DS17233,BMG_DS066317,UMLS ID:C4747984 | OMIM ID:618042 | OMIM ID:164350 | pulmonary alveolar proteinosis with hypogammaglobulinemia | IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA | MONDO:0020840 +BMGC_DS17234,BMG_DS066318,MONDO:0054700 | proteosome-associated autoinflammatory syndrome 2 | proteasome-associated autoinflammatory syndrome 2 | UMLS ID:C4747989 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 | OMIM ID:613386 | DOID:0060914 | OMIM ID:618048 +BMGC_DS17235,BMG_DS066319,UMLS ID:C4747991 | infantile parkinsonism-dystonia 2 | DOID:0070490 +BMGC_DS17236,BMG_DS066320,"MONDO:0054837 | UMLS ID:C4748003 | intellectual disability, autosomal dominant 57 | OMIM ID:618050" +BMGC_DS17237,BMG_DS066321,"OMIM ID:618052 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27 | UMLS ID:C4748014 | cardiomyopathy, familial hypertrophic 27 | MONDO:0054838 | OMIM ID:617608" +BMGC_DS17238,BMG_DS066322,NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with cerebellar atrophy and with or without seizures | OMIM ID:614506 | OMIM ID:618056 | UMLS ID:C4748032 | MONDO:0020841 +BMGC_DS17239,BMG_DS066323,INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA | MONDO:0060745 | OMIM ID:618060 | UMLS ID:C4748041 | intellectual developmental disorder with or without epilepsy or cerebellar ataxia +BMGC_DS17240,BMG_DS066324,POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | MONDO:0054842 | polycystic kidney disease 6 | DOID:0060951 | OMIM ID:618061 | OMIM ID:611341 | UMLS ID:C4748044 | polycystic kidney disease 6 with or without polycystic liver disease +BMGC_DS17241,BMG_DS066325,"DOID:0111852 | CILIARY DYSKINESIA, PRIMARY, 38 | ciliary dyskinesia, primary, 38 | primary ciliary dyskinesia 38 | UMLS ID:C4748052 | OMIM ID:618058 | OMIM ID:618063 | MONDO:0054843" +BMGC_DS17242,BMG_DS066326,"OMIM ID:606180 | pontocerebellar hypoplasia, type 1D | UMLS ID:C4748058 | MONDO:0054844 | pontocerebellar hypoplasia type 1D | OMIM ID:618065 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | DOID:0112323" +BMGC_DS17243,BMG_DS066327,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 | UMLS ID:C4748070 | MONDO:0054845 | developmental and epileptic encephalopathy 66 | developmental and epileptic encephalopathy, 66 | DOID:0080446 | OMIM ID:610423 | OMIM ID:618067" +BMGC_DS17244,BMG_DS066328,"epilepsy, familial adult myoclonic, 6 | OMIM ID:610739 | UMLS ID:C4748079 | OMIM ID:618074 | MONDO:0054846 | DOID:0111696 | familial adult myoclonic epilepsy 6 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6" +BMGC_DS17245,BMG_DS066329,"UMLS ID:C4748080 | OMIM ID:618075 | OMIM ID:609530 | epilepsy, familial adult myoclonic, 7 | familial adult myoclonic epilepsy 7 | MONDO:0054847 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 | DOID:0111694" +BMGC_DS17246,BMG_DS066330,MONDO:0060752 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH | UMLS ID:C4748081 | OMIM ID:618076 | neurodevelopmental disorder with spasticity and poor growth | DOID:0070421 | OMIM ID:610554 +BMGC_DS17247,BMG_DS066331,DOID:0112155 | OMIM ID:618077 | inflammatory bowel disease 29 | MONDO:0054849 | INFLAMMATORY BOWEL DISEASE 29 | OMIM ID:618051 | UMLS ID:C4748083 +BMGC_DS17248,BMG_DS066332,OVARIAN DYSGENESIS 6 | OMIM ID:607617 | ovarian dysgenesis 6 | OMIM ID:618078 | UMLS ID:C4748084 | MONDO:0054850 | DOID:0080498 +BMGC_DS17249,BMG_DS066333,OMIM ID:618084 | MONDO:0054852 | UMLS ID:C4748093 | DOID:0070525 | PEELING SKIN SYNDROME 6 | OMIM ID:616284 | peeling skin syndrome 6 +BMGC_DS17250,BMG_DS066334,OMIM ID:609644 | OMIM ID:618086 | DOID:0111916 | spermatogenic failure 28 | MONDO:0054732 | SPERMATOGENIC FAILURE 28 | UMLS ID:C4748117 +BMGC_DS17251,BMG_DS066336,"MONDO:0060758 | OMIM ID:604065 | OMIM ID:618087 | spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | UMLS ID:C4748120" +BMGC_DS17252,BMG_DS066337,"MONDO:0060759 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | OMIM ID:611720 | UMLS ID:C4748127 | DOID:0081327 | OMIM ID:618088" +BMGC_DS17253,BMG_DS066338,OMIM ID:607871 | UMLS ID:C4748135 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES | intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | OMIM ID:618089 | MONDO:0060760 +BMGC_DS17254,BMG_DS066339,MONDO:0060761 | neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | OMIM ID:618090 | OMIM ID:610236 | UMLS ID:C4748137 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM +BMGC_DS17255,BMG_DS066340,spermatogenic failure 29 | SPERMATOGENIC FAILURE 29 | DOID:0111930 | OMIM ID:618091 | OMIM ID:605753 | UMLS ID:C4748142 | MONDO:0054733 +BMGC_DS17256,BMG_DS066341,"MONDO:0060763 | UMLS ID:C4748152 | OMIM ID:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" +BMGC_DS17257,BMG_DS066342,MONDO:0032526 | OMIM ID:607207 | UMLS ID:C4748158 | SPINOCEREBELLAR ATAXIA 48 | DOID:0111746 | OMIM ID:618093 | spinocerebellar ataxia 48 | cerebellar ataxia type 48 +BMGC_DS17258,BMG_DS066343,"DEAFNESS, AUTOSOMAL RECESSIVE 110 | UMLS ID:C4748162 | MONDO:0054860 | OMIM ID:618094 | autosomal recessive nonsyndromic deafness 110 | OMIM ID:603196 | hearing loss, autosomal recessive 110 | DOID:0111644" +BMGC_DS17259,BMG_DS066344,"OMIM ID:618095 | UMLS ID:C4748167 | MONDO:0054861 | intellectual disability, autosomal recessive 63" +BMGC_DS17260,BMG_DS066345,premature ovarian failure 15 | OMIM ID:609644 | MONDO:0054862 | PREMATURE OVARIAN FAILURE 15 | UMLS ID:C4748170 | OMIM ID:618096 | primary ovarian insufficiency 15 | DOID:0080872 +BMGC_DS17261,BMG_DS066346,"MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 | OMIM ID:618097 | microcephaly, growth restriction, and increased sister chromatid exchange 2 | OMIM ID:601243 | MONDO:0020628 | UMLS ID:C4748176" +BMGC_DS17262,BMG_DS066347,"DOID:0111524 | OMIM ID:601243 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | OMIM ID:618098 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | UMLS ID:C4748184 | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | MONDO:0020845" +BMGC_DS17263,BMG_DS066348,"intellectual disability, autosomal recessive 64 | UMLS ID:C4748192 | OMIM ID:618103 | MONDO:0020846" +BMGC_DS17264,BMG_DS066349,"MONDO:0020847 | OMIM ID:618106 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | UMLS ID:C4748195 | intellectual disability, autosomal dominant 58 | OMIM ID:600960" +BMGC_DS17265,BMG_DS066350,"UMLS ID:C4748197 | MONDO:0020848 | osteopetrosis, autosomal dominant 3 | OMIM ID:618107 | OMIM ID:611466 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3" +BMGC_DS17266,BMG_DS066351,IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION | OMIM ID:618108 | DOID:0111952 | UMLS ID:C4748212 | OMIM ID:603453 | immunodeficiency 57 | MONDO:0020849 +BMGC_DS17267,BMG_DS066352,"UMLS ID:C4748219 | intellectual disability, autosomal recessive 65 | MONDO:0020850 | OMIM ID:618109" +BMGC_DS17268,BMG_DS066353,spermatogenic failure 30 | OMIM ID:617963 | UMLS ID:C4748224 | OMIM ID:618110 | MONDO:0020851 | DOID:0111913 | SPERMATOGENIC FAILURE 30 +BMGC_DS17269,BMG_DS066354,spermatogenic failure 31 | DOID:0111922 | OMIM ID:618085 | UMLS ID:C4748234 | MONDO:0020852 | SPERMATOGENIC FAILURE 31 | OMIM ID:618112 +BMGC_DS17270,BMG_DS066355,UMLS ID:C4748251 | OMIM ID:600761 | LIDDLE SYNDROME 2 | MONDO:0020854 | Liddle syndrome 2 | OMIM ID:618114 +BMGC_DS17271,BMG_DS066356,DOID:0111925 | OMIM ID:618115 | MONDO:0020855 | UMLS ID:C4748253 | OMIM ID:610224 | spermatogenic failure 32 | SPERMATOGENIC FAILURE 32 +BMGC_DS17272,BMG_DS066357,BONE MARROW FAILURE SYNDROME 4 | OMIM ID:612176 | OMIM ID:618116 | UMLS ID:C4748257 | bone marrow failure syndrome 4 | MONDO:0020856 +BMGC_DS17273,BMG_DS066359,MONDO:0020857 | ovarian dysgenesis 7 | DOID:0080499 | UMLS ID:C4748263 | OMIM ID:618117 | OVARIAN DYSGENESIS 7 | OMIM ID:605810 +BMGC_DS17274,BMG_DS066360,"DOID:0070463 | OMIM ID:618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | MONDO:0020858 | mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 | OMIM ID:603150 | mitochondrial complex V (ATP synthase) deficiency nuclear type 5 | UMLS ID:C4748269" +BMGC_DS17275,BMG_DS066361,"OMIM ID:618123 | polydactyly, postaxial, type A8 | UMLS ID:C4748277 | MONDO:0029130" +BMGC_DS17276,BMG_DS066362,"UMLS ID:C4748283 | OMIM ID:618124 | MONDO:0029131 | OMIM ID:603294 | peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT" +BMGC_DS17277,BMG_DS066363,LIDDLE SYNDROME 3 | MONDO:0029132 | Liddle syndrome 3 | UMLS ID:C4748292 | OMIM ID:618126 | OMIM ID:600228 +BMGC_DS17278,BMG_DS066364,"Limb girdle muscular dystrophy type D4 | SNOMEDCT ID:1279886003 | Calpain-3-related limb girdle muscular dystrophy D4 (disorder) | MONDO:0029133 | UMLS ID:C4748295 | OMIM ID:618129 | Calpain-3-related limb girdle muscular dystrophy D4 | muscular dystrophy, limb-girdle, autosomal dominant 4" +BMGC_DS17279,BMG_DS066365,UMLS ID:C4748304 | DOID:0111984 | OMIM ID:610859 | severe combined immunodeficiency due to CARMIL2 deficiency | MONDO:0029134 | OMIM ID:618131 | IMMUNODEFICIENCY 58 | immunodeficiency 58 +BMGC_DS17280,BMG_DS066366,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 | MONDO:0029135 | OMIM ID:614828 | OMIM ID:618135 | UMLS ID:C4748320 | muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | DOID:0112382 | muscular dystrophy-dystroglycanopathy type C8" +BMGC_DS17281,BMG_DS066367,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | MONDO:0029136 | OMIM ID:156225 | OMIM ID:618138 | muscular dystrophy, limb-girdle, autosomal recessive 23 | UMLS ID:C4748327" +BMGC_DS17282,BMG_DS066368,"OMIM ID:602987 | DOID:0112165 | MONDO:0029137 | UMLS ID:C4748334 | DEAFNESS, AUTOSOMAL DOMINANT 74 | hearing loss, autosomal dominant 74 | OMIM ID:618140 | autosomal dominant nonsyndromic deafness 74" +BMGC_DS17283,BMG_DS066369,"OMIM ID:618141 | developmental and epileptic encephalopathy, 67 | UMLS ID:C4748341 | OMIM ID:610648 | developmental and epileptic encephalopathy 67 | DOID:0112203 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 | MONDO:0029138" +BMGC_DS17284,BMG_DS066370,"UMLS ID:C4748348 | MONDO:0020647 | OMIM ID:618142 | OMIM ID:617057 | MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME | microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" +BMGC_DS17285,BMG_DS066371,MONDO:0029140 | OMIM ID:610271 | UMLS ID:C4748357 | developmental and epileptic encephalopathy 95 | DOID:0070382 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95 | glycosylphosphatidylinositol biosynthesis defect 18 | OMIM ID:618143 +BMGC_DS17286,BMG_DS066372,"UMLS ID:C4748364 | Usher syndrome, type 4 | OMIM ID:618144 | MONDO:0029141 | OMIM ID:610008 | USHER SYNDROME, TYPE IV" +BMGC_DS17287,BMG_DS066373,"MONDO:0029142 | OMIM ID:604873 | hearing loss, autosomal recessive 111 | OMIM ID:618145 | UMLS ID:C4748374 | DEAFNESS, AUTOSOMAL RECESSIVE 111 | DOID:0111640 | autosomal recessive nonsyndromic deafness 111" +BMGC_DS17288,BMG_DS066374,INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES | MONDO:0029143 | OMIM ID:618147 | UMLS ID:C4748381 | OMIM ID:603544 | intellectual developmental disorder with hypertelorism and distinctive facies +BMGC_DS17289,BMG_DS066375,MTO (methanethiol oxidase) deficiency | UMLS ID:C4748387 | extraoral halitosis due to methanethiol oxidase deficiency | OMIM ID:618148 | Autosomal recessive extra-oral halitosis (disorder) | MONDO:0029144 | SNOMEDCT ID:1269235004 | Methanethiol oxidase deficiency | Autosomal recessive extra-oral halitosis +BMGC_DS17290,BMG_DS066376,spermatogenic failure 33 | OMIM ID:618152 | DOID:0111915 | OMIM ID:618146 | SPERMATOGENIC FAILURE 33 | UMLS ID:C4748395 | MONDO:0029147 +BMGC_DS17291,BMG_DS066377,spermatogenic failure 34 | UMLS ID:C4748403 | OMIM ID:615796 | OMIM ID:618153 | DOID:0111911 | SPERMATOGENIC FAILURE 34 | MONDO:0029148 +BMGC_DS17292,BMG_DS066378,MONDO:0032564 | UMLS ID:C4748408 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 | OMIM ID:605011 | OMIM ID:618154 | hennekam lymphangiectasia-lymphedema syndrome 3 +BMGC_DS17293,BMG_DS066379,"ophthalmoplegia, external, with rib and vertebral anomalies | UMLS ID:C4748418 | OMIM ID:159990 | OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES | MONDO:0032565 | OMIM ID:618155" +BMGC_DS17294,BMG_DS066380,UMLS ID:C4748427 | OMIM ID:618156 | OMIM ID:184420 | squalene synthase deficiency | MONDO:0032566 | SQUALENE SYNTHASE DEFICIENCY +BMGC_DS17295,BMG_DS066381,"UMLS ID:C4748428 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | OMIM ID:618158 | MONDO:0032568 | intellectual developmental disorder with macrocephaly, seizures, and speech delay | OMIM ID:602590" +BMGC_DS17296,BMG_DS066382,"OMIM ID:618160 | MONDO:0032569 | isolated growth hormone deficiency, type 5 | DOID:0061016 | combined or isolated pituitary growth hormone deficiency 7 | UMLS ID:C4748435 | PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7" +BMGC_DS17297,BMG_DS066383,UMLS ID:C4748442 | MONDO:0032570 | OMIM ID:618161 | JOUBERT SYNDROME 35 | Joubert syndrome 35 | OMIM ID:604695 +BMGC_DS17298,BMG_DS066384,"MONDO:0032571 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE | OMIM ID:614776 | OMIM ID:618162 | spondyloepimetaphyseal dysplasia, Krakow type | UMLS ID:C4748455" +BMGC_DS17299,BMG_DS066385,"MONDO:0032572 | UMLS ID:C4748484 | OMIM ID:618164 | cardiac, facial, and digital anomalies with developmental delay" +BMGC_DS17300,BMG_DS066386,MONDO:0032573 | OMIM ID:191170 | OMIM ID:618165 | BONE MARROW FAILURE SYNDROME 5 | bone marrow failure syndrome 5 | UMLS ID:C4748488 +BMGC_DS17301,BMG_DS066387,"UMLS ID:C4748496 | osteochondrodysplasia, brachydactyly, and overlapping malformed digits | OMIM ID:610128 | OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS | OMIM ID:618167 | MONDO:0032574" +BMGC_DS17302,BMG_DS066388,diarrhea 9 | UMLS ID:C4748517 | MONDO:0032575 | OMIM ID:618168 | OMIM ID:601968 | DIARRHEA 9 +BMGC_DS17303,BMG_DS066389,"neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | stress-induced childhood-onset neurodegeneration with variable ataxia and seizures | OMIM ID:610624 | OMIM ID:618170 | DOID:0070352 | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | MONDO:0100095 | UMLS ID:C4748527" +BMGC_DS17304,BMG_DS066390,OMIM ID:618173 | retinitis pigmentosa 83 | MONDO:0032577 | DOID:0112140 | RETINITIS PIGMENTOSA 83 | UMLS ID:C4748536 | OMIM ID:604695 +BMGC_DS17305,BMG_DS066391,"MONDO:0032578 | OMIM ID:618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | cortical dysplasia, complex, with other brain malformations 9 | OMIM ID:114025 | UMLS ID:C4748540" +BMGC_DS17306,BMG_DS066392,"NEPHROTIC SYNDROME, TYPE 17 | OMIM ID:170285 | MONDO:0032580 | DOID:0080392 | OMIM ID:618176 | UMLS ID:C4748545 | nephrotic syndrome type 17 | nephrotic syndrome, type 17" +BMGC_DS17307,BMG_DS066393,"DOID:0080393 | nephrotic syndrome, type 18 | nephrotic syndrome type 18 | OMIM ID:618177 | NEPHROTIC SYNDROME, TYPE 18 | MONDO:0032581 | OMIM ID:607613 | UMLS ID:C4748549" +BMGC_DS17308,BMG_DS066394,"NEPHROTIC SYNDROME, TYPE 19 | MONDO:0032582 | OMIM ID:618178 | UMLS ID:C4748552 | nephrotic syndrome type 19 | nephrotic syndrome, type 19 | DOID:0080394 | OMIM ID:607614" +BMGC_DS17309,BMG_DS066395,"microcephaly 24, primary, autosomal recessive | UMLS ID:C4748555 | MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE | OMIM ID:609264 | MONDO:0032583 | OMIM ID:618179" +BMGC_DS17310,BMG_DS066396,"ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | UMLS ID:C4748560 | OMIM ID:618180 | ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE, WITH OR WITHOUT HYPOHIDROSIS | DOID:0111662 | MONDO:0032584 | ectodermal dysplasia 14" +BMGC_DS17311,BMG_DS066399,MONDO:0020751 | orthostatic hypotension 2 | OMIM ID:600019 | UMLS ID:C4748569 | ORTHOSTATIC HYPOTENSION 2 | OMIM ID:618182 +BMGC_DS17312,BMG_DS066400,"OMIM ID:618183 | OMIM ID:607647 | MONDO:0032586 | DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE | diarrhea 10, protein-losing enteropathy type | UMLS ID:C4748579" +BMGC_DS17313,BMG_DS066401,PERIVENTRICULAR NODULAR HETEROTOPIA 8 | UMLS ID:C4748602 | periventricular nodular heterotopia 8 | OMIM ID:103180 | OMIM ID:618185 | MONDO:0032588 +BMGC_DS17314,BMG_DS066402,"neuropathy, congenital hypomyelinating, 3 | OMIM ID:602346 | UMLS ID:C4748608 | OMIM ID:618186 | NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 | MONDO:0020766" +BMGC_DS17315,BMG_DS066403,MONDO:0032590 | OVARIAN DYSGENESIS 8 | DOID:0080500 | OMIM ID:618187 | ovarian dysgenesis 8 | UMLS ID:C4748626 | OMIM ID:601663 +BMGC_DS17316,BMG_DS066404,"DOID:0081159 | CARDIOMYOPATHY, DILATED, 2C | dilated cardiomyopathy 2C | UMLS ID:C4748647 | MONDO:0032592 | cardiomyopathy, dilated, 2c | OMIM ID:618189 | OMIM ID:609853" +BMGC_DS17317,BMG_DS066405,OMIM ID:605086 | OMIM ID:618193 | MONDO:0020750 | UMLS ID:C4748657 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 +BMGC_DS17318,BMG_DS066406,MONDO:0032594 | UMLS ID:C4748658 | OMIM ID:611611 | INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA | OMIM ID:618195 | intellectual developmental disorder and retinitis pigmentosa; IDDRP +BMGC_DS17319,BMG_DS066407,OMIM ID:618196 | OMIM ID:600011 | capillary malformation-arteriovenous malformation 2 | UMLS ID:C4748670 | MONDO:0020785 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 +BMGC_DS17320,BMG_DS066408,"UMLS ID:C4748678 | MONDO:0032596 | myasthenic syndrome, congenital, 23, presynaptic | MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC | OMIM ID:190315 | OMIM ID:618197" +BMGC_DS17321,BMG_DS066409,"UMLS ID:C4748684 | MONDO:0032597 | MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC | myasthenic syndrome, congenital, 24, presynaptic | OMIM ID:618198" +BMGC_DS17322,BMG_DS066410,"OMIM ID:618201 | MONDO:0032598 | developmental and epileptic encephalopathy 68 | DOID:0112204 | UMLS ID:C4748688 | OMIM ID:608112 | developmental and epileptic encephalopathy, 68 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68" +BMGC_DS17323,BMG_DS066411,OMIM ID:618204 | OMIM ID:603258 | immunodeficiency 15A | immunodeficiency 15a | IMMUNODEFICIENCY 15A | DOID:0111960 | UMLS ID:C4748694 | MONDO:0032599 +BMGC_DS17324,BMG_DS066412,"OMIM ID:618205 | Snijders Blok-Campeau syndrome | Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome | Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) | UMLS ID:C4748701 | CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome | MONDO:0032600 | MeSH ID:C000729467 | SNOMEDCT ID:1179408008" +BMGC_DS17325,BMG_DS066413,"OMIM ID:190180 | OMIM ID:618213 | MONDO:0032601 | inflammatory bowel disease, immunodeficiency, and encephalopathy | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | UMLS ID:C4748708" +BMGC_DS17326,BMG_DS066414,"Baker Gordon syndrome | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | UMLS ID:C4748715 | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | OMIM ID:618218 | infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | SNOMEDCT ID:1217371005 | MONDO:0033864 | Synaptotagmin 1-related neurodevelopmental disorder | SYT1-related neurodevelopmental disorder" +BMGC_DS17327,BMG_DS066415,"MONDO:0032603 | polydactyly, postaxial, type A9 | OMIM ID:618219 | UMLS ID:C4748721" +BMGC_DS17328,BMG_DS066416,DOID:0112141 | MONDO:0032604 | UMLS ID:C4748725 | OMIM ID:605584 | retinitis pigmentosa 84 | OMIM ID:618220 | RETINITIS PIGMENTOSA 84 +BMGC_DS17329,BMG_DS066417,"MONDO:0032605 | DOID:0081227 | intellectual disability, autosomal recessive 66 | UMLS ID:C4748732 | OMIM ID:618221 | OMIM ID:616082 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 66 | autosomal recessive intellectual developmental disorder 66" +BMGC_DS17330,BMG_DS066418,"DOID:0112083 | nuclear type mitochondrial complex I deficiency 2 | mitochondrial complex 1 deficiency, nuclear type 2 | UMLS ID:C4748737 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | OMIM ID:602141 | MONDO:0032606 | OMIM ID:618222" +BMGC_DS17331,BMG_DS066419,OMIM ID:600747 | UMLS ID:C4748741 | MONDO:0032607 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | DOID:0070345 | OMIM ID:618223 | vertebral anomalies and variable endocrine and T-cell dysfunction +BMGC_DS17332,BMG_DS066420,"DOID:0112093 | MONDO:0032608 | nuclear type mitochondrial complex I deficiency 3 | OMIM ID:601825 | UMLS ID:C4748752 | OMIM ID:618224 | mitochondrial complex 1 deficiency, nuclear type 3 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3" +BMGC_DS17333,BMG_DS066421,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | mitochondrial complex 1 deficiency, nuclear type 4 | nuclear type mitochondrial complex I deficiency 4 | OMIM ID:161015 | OMIM ID:618225 | DOID:0112082 | UMLS ID:C4748753 | MONDO:0032609" +BMGC_DS17334,BMG_DS066422,"OMIM ID:157655 | nuclear type mitochondrial complex I deficiency 5 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | mitochondrial complex 1 deficiency, nuclear type 5 | MONDO:0032610 | UMLS ID:C4748754 | OMIM ID:618226 | DOID:0112068" +BMGC_DS17335,BMG_DS066423,"mitochondrial complex 1 deficiency, nuclear type 6 | OMIM ID:602985 | DOID:0112066 | OMIM ID:618228 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 | MONDO:0032611 | nuclear type mitochondrial complex I deficiency 6 | UMLS ID:C4748759" +BMGC_DS17336,BMG_DS066424,"UMLS ID:C4748760 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | MONDO:0032612 | DOID:0112092 | OMIM ID:618229 | mitochondrial complex 1 deficiency, nuclear type 7 | OMIM ID:600532 | nuclear type mitochondrial complex I deficiency 7" +BMGC_DS17337,BMG_DS066425,"DOID:0112081 | mitochondrial complex 1 deficiency, nuclear type 8 | nuclear type mitochondrial complex I deficiency 8 | UMLS ID:C4748766 | OMIM ID:618230 | OMIM ID:603846 | MONDO:0032613 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8" +BMGC_DS17338,BMG_DS066426,"OMIM ID:603848 | nuclear type mitochondrial complex I deficiency 9 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | DOID:0112073 | MONDO:0032615 | mitochondrial complex 1 deficiency, nuclear type 9 | UMLS ID:C4748767 | OMIM ID:618232" +BMGC_DS17339,BMG_DS066427,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | nuclear type mitochondrial complex I deficiency 10 | UMLS ID:C4748768 | OMIM ID:618233 | DOID:0112075 | MONDO:0032616 | OMIM ID:609653 | mitochondrial complex 1 deficiency, nuclear type 10" +BMGC_DS17340,BMG_DS066428,"nuclear type mitochondrial complex I deficiency 11 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | OMIM ID:618234 | OMIM ID:606934 | UMLS ID:C4748769 | mitochondrial complex 1 deficiency, nuclear type 11 | DOID:0112089 | MONDO:0032617" +BMGC_DS17341,BMG_DS066429,"DOID:0112076 | OMIM ID:618235 | UMLS ID:C4748770 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 | mitochondrial complex 1 deficiency, nuclear type 13 | MONDO:0032618 | nuclear type mitochondrial complex I deficiency 13 | OMIM ID:602137" +BMGC_DS17342,BMG_DS066430,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | OMIM ID:612638 | OMIM ID:618236 | mitochondrial complex 1 deficiency, nuclear type 14 | nuclear type mitochondrial complex I deficiency 14 | UMLS ID:C4748777 | DOID:0112094 | MONDO:0032619" +BMGC_DS17343,BMG_DS066431,"UMLS ID:C4748778 | DOID:0112077 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | OMIM ID:618237 | MONDO:0032620 | OMIM ID:611776 | nuclear type mitochondrial complex I deficiency 15 | mitochondrial complex 1 deficiency, nuclear type 15" +BMGC_DS17344,BMG_DS066433,"mitochondrial complex 1 deficiency, nuclear type 16 | OMIM ID:612360 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | UMLS ID:C4748785 | nuclear type mitochondrial complex I deficiency 16 | OMIM ID:618238 | DOID:0112096 | MONDO:0032621" +BMGC_DS17345,BMG_DS066434,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | UMLS ID:C4748786 | MONDO:0032622 | nuclear type mitochondrial complex I deficiency 17 | OMIM ID:612392 | mitochondrial complex 1 deficiency, nuclear type 17 | OMIM ID:618239 | DOID:0112078" +BMGC_DS17346,BMG_DS066435,"UMLS ID:C4748790 | OMIM ID:612911 | MONDO:0032623 | OMIM ID:618240 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | mitochondrial complex 1 deficiency, nuclear type 18 | nuclear type mitochondrial complex I deficiency 18 | DOID:0112070" +BMGC_DS17347,BMG_DS066436,"mitochondrial complex 1 deficiency, nuclear type 19 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | UMLS ID:C4748791 | nuclear type mitochondrial complex I deficiency 19 | OMIM ID:613622 | OMIM ID:618241 | MONDO:0032624 | DOID:0112085" +BMGC_DS17348,BMG_DS066437,"nuclear type mitochondrial complex I deficiency 21 | MONDO:0032625 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | OMIM ID:613621 | DOID:0112088 | OMIM ID:618242 | UMLS ID:C4748792 | mitochondrial complex 1 deficiency, nuclear type 21" +BMGC_DS17349,BMG_DS066438,"UMLS ID:C4748796 | nuclear type mitochondrial complex I deficiency 22 | MONDO:0032626 | DOID:0112069 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 | OMIM ID:618243 | mitochondrial complex 1 deficiency, nuclear type 22 | OMIM ID:603835" +BMGC_DS17350,BMG_DS066439,"mitochondrial complex 1 deficiency, nuclear type 23 | OMIM ID:614530 | nuclear type mitochondrial complex I deficiency 23 | MONDO:0032627 | DOID:0112087 | UMLS ID:C4748799 | OMIM ID:618244 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23" +BMGC_DS17351,BMG_DS066440,"OMIM ID:618245 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 | nuclear type mitochondrial complex I deficiency 24 | DOID:0112079 | mitochondrial complex 1 deficiency, nuclear type 24 | UMLS ID:C4748803 | OMIM ID:601445 | MONDO:0032628" +BMGC_DS17352,BMG_DS066441,"OMIM ID:618246 | mitochondrial complex 1 deficiency, nuclear type 25 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | MONDO:0032629 | UMLS ID:C4748806 | nuclear type mitochondrial complex I deficiency 25 | DOID:0112067 | OMIM ID:603839" +BMGC_DS17353,BMG_DS066442,"UMLS ID:C4748809 | mitochondrial complex 1 deficiency, nuclear type 26 | MONDO:0032630 | OMIM ID:603834 | OMIM ID:618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | nuclear type mitochondrial complex I deficiency 26 | DOID:0112086" +BMGC_DS17354,BMG_DS066443,"OMIM ID:618248 | nuclear type mitochondrial complex I deficiency 27 | DOID:0112090 | mitochondrial complex 1 deficiency, nuclear type 27 | OMIM ID:611766 | UMLS ID:C4748826 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 | MONDO:0032631" +BMGC_DS17355,BMG_DS066444,"UMLS ID:C4748827 | mitochondrial complex 1 deficiency, nuclear type 28 | OMIM ID:609435 | MONDO:0032632 | OMIM ID:618249 | nuclear type mitochondrial complex I deficiency 28 | DOID:0112095 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28" +BMGC_DS17356,BMG_DS066445,"OMIM ID:618250 | UMLS ID:C4748830 | nuclear type mitochondrial complex I deficiency 29 | mitochondrial complex 1 deficiency, nuclear type 29 | DOID:0112084 | MONDO:0032633 | OMIM ID:615533 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29" +BMGC_DS17357,BMG_DS066446,"MONDO:0032634 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 | UMLS ID:C4748838 | mitochondrial complex 1 deficiency, nuclear type 31 | OMIM ID:615534 | nuclear type mitochondrial complex I deficiency 31 | DOID:0112071 | OMIM ID:618251" +BMGC_DS17358,BMG_DS066447,"OMIM ID:602140 | nuclear type mitochondrial complex I deficiency 32 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 | MONDO:0032635 | DOID:0112080 | mitochondrial complex 1 deficiency, nuclear type 32 | OMIM ID:618252 | UMLS ID:C4748839" +BMGC_DS17359,BMG_DS066448,"OMIM ID:602138 | mitochondrial complex 1 deficiency, nuclear type 33 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | OMIM ID:618253 | MONDO:0032636 | UMLS ID:C4748840 | nuclear type mitochondrial complex I deficiency 33 | DOID:0112097" +BMGC_DS17360,BMG_DS066449,"ciliary dyskinesia, primary, 39 | OMIM ID:618227 | MONDO:0032637 | CILIARY DYSKINESIA, PRIMARY, 39 | UMLS ID:C4748841 | OMIM ID:618254 | primary ciliary dyskinesia 39 | DOID:0111854" +BMGC_DS17361,BMG_DS066450,"hearing loss, autosomal recessive 112 | DEAFNESS, AUTOSOMAL RECESSIVE 112 | DOID:0111637 | OMIM ID:607012 | OMIM ID:618257 | MONDO:0032639 | autosomal recessive nonsyndromic deafness 112 | UMLS ID:C4748855" +BMGC_DS17362,BMG_DS066451,MONDO:0032641 | OMIM ID:618264 | MIRROR MOVEMENTS 4 | mirror movements 4 | OMIM ID:601614 | UMLS ID:C4748869 +BMGC_DS17363,BMG_DS066453,"UMLS ID:C4748872 | arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | MONDO:0032642 | ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | OMIM ID:618265 | OMIM ID:114105" +BMGC_DS17364,BMG_DS066454,"UMLS ID:C4748873 | pontocerebellar hypoplasia type 12 | OMIM ID:609855 | DOID:0112327 | OMIM ID:618266 | MONDO:0032643 | PONTOCEREBELLAR HYPOPLASIA, TYPE 12 | pontocerebellar hypoplasia, type 12" +BMGC_DS17365,BMG_DS066455,"UMLS ID:C4748876 | epidermodysplasia verruciformis, susceptibility to, 3 | OMIM ID:618267 | MONDO:0032644" +BMGC_DS17366,BMG_DS066456,trichohepatoneurodevelopmental syndrome | TRICHOHEPATONEURODEVELOPMENTAL SYNDROME | UMLS ID:C4748898 | OMIM ID:618260 | OMIM ID:618268 | MONDO:0032645 +BMGC_DS17367,BMG_DS066457,congenital anomalies of kidney and urinary tract 3 | UMLS ID:C4748921 | MONDO:0032646 | OMIM ID:618270 +BMGC_DS17368,BMG_DS066458,"Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome | OMIM ID:618272 | GLOW syndrome | MONDO:0018445 | Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumour) syndrome | GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumor) syndrome | Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome | global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | SNOMEDCT ID:782722002 | UMLS ID:C4748924" +BMGC_DS17369,BMG_DS066459,DOID:0111403 | MONDO:0032648 | OMIM ID:618273 | UMLS ID:C4748927 | mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | OMIM ID:612256 | MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS +BMGC_DS17370,BMG_DS066460,DOID:0080582 | HYPOTRICHOSIS 14 | hypotrichosis 14 | OMIM ID:618275 | MONDO:0032649 | UMLS ID:C4748930 | OMIM ID:600909 +BMGC_DS17371,BMG_DS066461,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY | OMIM ID:606830 | MONDO:0032650 | UMLS ID:C4748934 | neurodegeneration, childhood-onset, with cerebellar atrophy | OMIM ID:618276" +BMGC_DS17372,BMG_DS066462,"FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS | OMIM ID:618278 | OMIM ID:618277 | MONDO:0032651 | fibrosis, neurodegeneration, and cerebral angiomatosis | UMLS ID:C4748939" +BMGC_DS17373,BMG_DS066463,"Charcot-Marie-Tooth disease, demyelinating, type 1G | OMIM ID:618279 | Charcot-Marie-Tooth disease type 1G | UMLS ID:C4748940 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G | DOID:0111560 | OMIM ID:170715 | MONDO:0033135" +BMGC_DS17374,BMG_DS066464,MYRF-related cardiac urogenital syndrome | cardiac-urogenital syndrome | MONDO:0032653 | Myelin regulatory factor-related cardiac urogenital syndrome | Cardiac urogenital syndrome | Cardiac urogenital syndrome (disorder) | OMIM ID:618280 | UMLS ID:C4748946 | SNOMEDCT ID:1332387008 +BMGC_DS17375,BMG_DS066465,"hyper-IgE recurrent infection syndrome 3, autosomal recessive | hyper IgE recurrent infection syndrome 3 | DOID:0080595 | HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE | UMLS ID:C4748969 | OMIM ID:618282 | MONDO:0032654" +BMGC_DS17376,BMG_DS066466,visual impairment and progressive phthisis bulbi | OMIM ID:602678 | OMIM ID:618283 | UMLS ID:C4748978 | VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI | MONDO:0032655 +BMGC_DS17377,BMG_DS066467,"OMIM ID:176266 | UMLS ID:C4748984 | MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM | MONDO:0032656 | microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | OMIM ID:618284" +BMGC_DS17378,BMG_DS066468,"UMLS ID:C4748988 | developmental and epileptic encephalopathy, 69 | developmental and epileptic encephalopathy 69 | OMIM ID:618285 | OMIM ID:601013 | MONDO:0032657 | DOID:0112205 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69" +BMGC_DS17379,BMG_DS066469,"OMIM ID:618286 | UMLS ID:C4748993 | MONDO:0032658 | MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | macrocephaly, acquired, with impaired intellectual development | OMIM ID:600728" +BMGC_DS17380,BMG_DS066470,"UMLS ID:C4748997 | MONDO:0032659 | OMIM ID:618287 | AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE 3 | mucocutaneous ulceration, chronic" +BMGC_DS17381,BMG_DS066471,"spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | OMIM ID:618291 | DOID:0070350 | MONDO:0032660 | spinal muscular atrophy with lower extremity predominant 2B | OMIM ID:609797 | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT | UMLS ID:C4749003" +BMGC_DS17382,BMG_DS066472,"OMIM ID:603123 | OMIM ID:618292 | MONDO:0032661 | UMLS ID:C4749014 | neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA" +BMGC_DS17383,BMG_DS066473,"autosomal recessive intellectual developmental disorder 67 | UMLS ID:C4749019 | OMIM ID:603914 | intellectual developmental disorder, autosomal recessive 67 | OMIM ID:618295 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 | MONDO:0032662 | DOID:0081228" +BMGC_DS17384,BMG_DS066474,"developmental and epileptic encephalopathy, 70 | OMIM ID:608723 | MONDO:0032663 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 | UMLS ID:C4749023 | DOID:0112206 | OMIM ID:618298 | developmental and epileptic encephalopathy 70" +BMGC_DS17385,BMG_DS066475,"CILIARY DYSKINESIA, PRIMARY, 40 | ciliary dyskinesia, primary, 40 | UMLS ID:C4749028 | primary ciliary dyskinesia 40 | DOID:0111853 | MONDO:0032664 | OMIM ID:618300" +BMGC_DS17386,BMG_DS066476,"OMIM ID:611669 | UMLS ID:C4749033 | autosomal recessive intellectual developmental disorder 68 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 | OMIM ID:618302 | DOID:0081229 | MONDO:0032665 | intellectual developmental disorder, autosomal recessive 68" +BMGC_DS17387,BMG_DS066477,"epidermodysplasia verruciformis, susceptibility to, 4 | UMLS ID:C4749042 | MONDO:0032666 | OMIM ID:618307" +BMGC_DS17388,BMG_DS066478,"epidermodysplasia verruciformis, susceptibility to, 5 | MONDO:0032667 | UMLS ID:C4749043 | OMIM ID:618309" +BMGC_DS17389,BMG_DS066483,"proteasome-associated autoinflammatory syndrome 1 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC | OMIM ID:177046 | OMIM ID:256040 | DOID:0050553 | OMIM ID:176843 | UMLS ID:C4749059" +BMGC_DS17390,BMG_DS066508,"OMIM ID:164920 | UMLS ID:C4749139 | MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC" +BMGC_DS17391,BMG_DS066510,"UMLS ID:C4749142 | MASTOCYTOSIS, INDOLENT | OMIM ID:154800" +BMGC_DS17392,BMG_DS066511,UMLS ID:C4749143 | MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER | OMIM ID:154800 +BMGC_DS17393,BMG_DS066512,"OMIM ID:129010 | NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT | UMLS ID:C4749147 | OMIM ID:605253" +BMGC_DS17394,BMG_DS066513,Coffin-Siris syndrome 2 | UMLS ID:C4749148 | DOID:0070044 | OMIM ID:614607 | CHROMOSOME 1p36.11 DUPLICATION SYNDROME +BMGC_DS17395,BMG_DS066514,"DOID:0060916 | proteasome-associated autoinflammatory syndrome 3 | UMLS ID:C4749149 | OMIM ID:617591 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC" +BMGC_DS17396,BMG_DS066515,OMIM ID:618057 | UMLS ID:C4749152 | CARBOXYLESTERASE 1 DEFICIENCY +BMGC_DS17397,BMG_DS066516,CHROMOSOME 14q32 DELETION SYNDROME | UMLS ID:C4749153 | OMIM ID:618147 +BMGC_DS17398,BMG_DS066540,"Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | UMLS ID:C4749272 | Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome | SNOMEDCT ID:770404004 | Autosomal recessive chorioretinopathy and microcephaly syndrome" +BMGC_DS17399,BMG_DS066541,UMLS ID:C4749273 | SNOMEDCT ID:770405003 | Familial mesial temporal lobe epilepsy (disorder) | Benign familial mesial temporal lobe epilepsy | Familial mesial temporal lobe epilepsy | FMTLE - familial mesial temporal lobe epilepsy +BMGC_DS17400,BMG_DS066542,Von Hippel Lindau dependent polycythemia | Chuvash polycythaemia | Von Hippel Lindau dependent polycythaemia | SNOMEDCT ID:770407006 | Chuvash erythrocytosis (disorder) | Chuvash polycythemia | UMLS ID:C4749274 | Chuvash erythrocytosis +BMGC_DS17401,BMG_DS066546,"MONDO:0017325 | early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | UMLS ID:C4749281 | 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 | OMIM ID:613971 | SNOMEDCT ID:770431001 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" +BMGC_DS17402,BMG_DS066549,UMLS ID:C4749284 | familial bicuspid aortic valve | MONDO:0007194 +BMGC_DS17403,BMG_DS066556,OMIM ID:607432 | MONDO:0011830 | UMLS ID:C4749301 | lissencephaly due to LIS1 mutation +BMGC_DS17404,BMG_DS066558,SNOMEDCT ID:770565003 | UMLS ID:C4749303 | Microcephalic primordial dwarfism Dauber type (disorder) | Microcephalic primordial dwarfism Dauber type +BMGC_DS17405,BMG_DS066559,Monosomy 13q14 syndrome | Deletion 13q14 | Monosomy 13q14 | Monosomy 13q14 syndrome (disorder) | UMLS ID:C4749304 | SNOMEDCT ID:770566002 +BMGC_DS17406,BMG_DS066568,"MONDO:0011957 | OMIM ID:608051 | UMLS ID:C4749334 | retinal macular dystrophy type 2 | DOID:0070517 | Macular Dystrophy, Retinal, 2 | MeSH ID:C562746 | retinal macular dystrophy 2" +BMGC_DS17407,BMG_DS066576,SNOMEDCT ID:770631009 | UMLS ID:C4749351 | Genetic transient congenital hypothyroidism | Genetic transient congenital hypothyroidism (disorder) +BMGC_DS17408,BMG_DS066603,Vasculitis due to adenosine deaminase 2 deficiency (disorder) | Vasculitis due to adenosine deaminase 2 deficiency | Vasculitis due to ADA2 deficiency | UMLS ID:C4749403 | Vasculitis due to ADA2 (adenosine deaminase 2) deficiency | SNOMEDCT ID:770687001 +BMGC_DS17409,BMG_DS066610,"UMLS ID:C4749429 | Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | SNOMEDCT ID:770721009 | Microcephaly, thin corpus callosum, intellectual disability syndrome" +BMGC_DS17410,BMG_DS066611,Proximal myopathy with extrapyramidal signs | UMLS ID:C4749430 | Proximal myopathy with extrapyramidal signs (disorder) | SNOMEDCT ID:770722002 +BMGC_DS17411,BMG_DS066612,UMLS ID:C4749431 | Autosomal recessive spastic paraplegia type 70 | autosomal recessive spastic paraplegia type 70 | Autosomal recessive spastic paraplegia type 70 (disorder) | MONDO:0018422 | SNOMEDCT ID:770724001 +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 (disorder) | SNOMEDCT ID:770725000 +BMGC_DS17413,BMG_DS066614,UMLS ID:C4749433 | SNOMEDCT ID:770726004 | Female infertility due to zona pellucida defect (disorder) | Female infertility due to zona pellucida defect +BMGC_DS17414,BMG_DS066615,spinal muscular atrophy with respiratory distress type 2 | UMLS ID:C4749434 | Diaphragmatic spinal muscular atrophy type 2 | MONDO:0018450 | Spinal muscular atrophy with respiratory distress type 2 | Severe infantile axonal neuropathy with respiratory failure type 2 | X-linked spinal muscular atrophy with respiratory distress | SMARD2 - spinal muscular atrophy with respiratory distress type 2 | Spinal muscular atrophy with respiratory distress type 2 (disorder) | SNOMEDCT ID:770727008 +BMGC_DS17415,BMG_DS066618,"Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) | UMLS ID:C4749456 | Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome | SNOMEDCT ID:770751003" +BMGC_DS17416,BMG_DS066619,2p21 microdeletion syndrome without cystinuria | 2p21 microdeletion syndrome without cystinuria (disorder) | MONDO:0018245 | SNOMEDCT ID:770754006 | UMLS ID:C4749458 +BMGC_DS17417,BMG_DS066620,"Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) | UMLS ID:C4749459 | Congenital disorder of glycosylation due to PIGT (phosphatidylinositol glycan anchor biosynthesis class T) deficiency | Congenital disorder of glycosylation due to PIGT deficiency | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3 | SNOMEDCT ID:770755007" +BMGC_DS17418,BMG_DS066623,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (disorder) | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | Charcot-Marie-Tooth disease dominant intermediate F | OMIM ID:615185 | MONDO:0014074 | SNOMEDCT ID:770759001 | UMLS ID:C4749463 +BMGC_DS17419,BMG_DS066641,T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency | T-cell immunodeficiency due to RHOH deficiency | MONDO:0017925 | T-cell immunodeficiency with epidermodysplasia verruciformis | SNOMEDCT ID:770785002 | T-cell immunodeficiency due to ras homolog family member H deficiency (disorder) | UMLS ID:C4749500 | T-cell immunodeficiency due to ras homolog family member H deficiency +BMGC_DS17420,BMG_DS066643,MONDO:0017936 | Benign Samaritan congenital myopathy (disorder) | Benign Samaritan congenital myopathy | benign Samaritan congenital myopathy | SNOMEDCT ID:770787005 | UMLS ID:C4749502 +BMGC_DS17421,BMG_DS066644,"SNOMEDCT ID:770788000 | UMLS ID:C4749503 | Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) | Tall stature, scoliosis, macrodactyly of great toe syndrome | Tall stature, scoliosis, macrodactyly of hallux syndrome" +BMGC_DS17422,BMG_DS066645,Developmental delay with autism spectrum disorder and gait instability | SNOMEDCT ID:770790004 | UMLS ID:C4749505 | Developmental delay with autism spectrum disorder and gait instability (disorder) +BMGC_DS17423,BMG_DS066646,SNOMEDCT ID:770792007 | UMLS ID:C4749506 | Adult-onset distal myopathy due to VCP mutation | MONDO:0018006 | adult-onset distal myopathy due to VCP mutation | Adult-onset distal myopathy due to VCP (valosin containing protein) mutation | Adult-onset distal myopathy due to valosin containing protein mutation | Adult-onset distal myopathy due to valosin containing protein mutation (disorder) +BMGC_DS17424,BMG_DS066647,5p13 microduplication syndrome | UMLS ID:C4749507 | SNOMEDCT ID:770793002 | 5p13 microduplication syndrome (disorder) | Trisomy 5p13 +BMGC_DS17425,BMG_DS066658,UMLS ID:C4749577 | 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 | MITF-related melanoma and renal cell carcinoma predisposition syndrome | Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder) | SNOMEDCT ID:770896003 +BMGC_DS17426,BMG_DS066660,"Recessive intellectual disability, motor dysfunction, multiple joint contractures syndrome | UMLS ID:C4749580 | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | SNOMEDCT ID:770901001 | recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome | MONDO:0017232" +BMGC_DS17427,BMG_DS066661,Distal deletion 12p | Distal monosomy 12p (disorder) | UMLS ID:C4749581 | 12p13.33 microdeletion syndrome | distal monosomy 12p | SNOMEDCT ID:770902008 | Distal monosomy 12p | MONDO:0017229 +BMGC_DS17428,BMG_DS066675,Autosomal dominant severe congenital neutropenia | MONDO:0008742 | autosomal dominant severe congenital neutropenia | UMLS ID:C4749612 | SNOMEDCT ID:770947009 | Autosomal dominant severe congenital neutropaenia | Autosomal dominant severe congenital neutropenia (disorder) +BMGC_DS17429,BMG_DS066677,"SNOMEDCT ID:771074000 | microcephaly-short stature-intellectual disability-facial dysmorphism syndrome | UMLS ID:C4749647 | Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome | MONDO:0018494 | Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)" +BMGC_DS17430,BMG_DS066681,SNOMEDCT ID:771078002 | Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency (disorder) | Immunodeficiency due to MASP-2 (mannan binding lectin serine peptidase 2) deficiency | Immunodeficiency due to MASP-2 deficiency | UMLS ID:C4749651 | Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency +BMGC_DS17431,BMG_DS066682,hereditary site-specific ovarian cancer syndrome | UMLS ID:C4749652 | MONDO:0016249 +BMGC_DS17432,BMG_DS066683,MONDO:0015355 | Distal hereditary motor neuropathy type 7 (disorder) | Distal spinal muscular atrophy with vocal cord paralysis | UMLS ID:C4749653 | Distal hereditary motor neuropathy type 7 | SNOMEDCT ID:771081007 | distal hereditary motor neuropathy type 7 +BMGC_DS17433,BMG_DS066706,"POIKTMP syndrome | POIKTMP (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome | Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | SNOMEDCT ID:771306007 | UMLS ID:C4749823 | Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome" +BMGC_DS17434,BMG_DS066707,Severe early-onset axonal neuropathy due to NEFL deficiency | Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency | UMLS ID:C4749824 | SNOMEDCT ID:771307003 | Autosomal recessive Charcot-Marie-Tooth disease type 2B5 | Charcot-Marie-Tooth disease type 2B5 (disorder) | Charcot-Marie-Tooth disease type 2B5 | Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency | MONDO:0016454 +BMGC_DS17435,BMG_DS066708,"UMLS ID:C4749825 | SNOMEDCT ID:771308008 | Non-acquired combined pituitary hormone deficiency, deafness, rigid cervical spine syndrome | Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) | Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome" +BMGC_DS17436,BMG_DS066710,"IL10-related early-onset inflammatory bowel disease | Interleukin 10 related early-onset inflammatory bowel disease | MONDO:0016542 | UMLS ID:C4749850 | IL10 (interleukin 10) related early-onset inflammatory bowel disease | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome | SNOMEDCT ID:771333006 | immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome (disorder)" +BMGC_DS17437,BMG_DS066711,Ectodermal dysplasia syndactyly syndrome | Ectodermal dysplasia syndactyly syndrome (disorder) | MONDO:0013311 | ectodermal dysplasia-syndactyly syndrome | SNOMEDCT ID:771335004 | UMLS ID:C4749852 +BMGC_DS17438,BMG_DS066713,Monosomy 15q11.2 | 15q11.2 microdeletion syndrome (disorder) | SNOMEDCT ID:771340007 | 15q11.2 microdeletion syndrome | UMLS ID:C4749854 +BMGC_DS17439,BMG_DS066714,UMLS ID:C4749855 | Trisomy 14q11.2 | SNOMEDCT ID:771341006 | 14q11.2 microduplication syndrome (disorder) | MONDO:0016835 | 14q11.2 microduplication syndrome +BMGC_DS17440,BMG_DS066715,"Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome | MRCS (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome | Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder) | MONDO:0016979 | UMLS ID:C4749856 | SNOMEDCT ID:771342004 | MRCS syndrome" +BMGC_DS17441,BMG_DS066717,Methylmalonic aciduria due to transcobalamin receptor defect (disorder) | Methylmalonic acidaemia TCb1R type | SNOMEDCT ID:771444002 | MONDO:0013341 | Methylmalonic acidemia TCb1R type | OMIM ID:613646 | methylmalonic acidemia due to transcobalamin receptor defect | Methylmalonic aciduria due to transcobalamin receptor defect | UMLS ID:C4749905 +BMGC_DS17442,BMG_DS066720,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 | Optic nerve oedema, splenomegaly syndrome | retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | OMIM ID:614979 | UMLS ID:C4749914 | MONDO:0013999 | Optic nerve edema, splenomegaly syndrome (disorder) | SNOMEDCT ID:771471002" +BMGC_DS17444,BMG_DS066722,Developmental and speech delay due to SRY-box 5 deficiency (disorder) | developmental and speech delay due to SOX5 deficiency | SNOMEDCT ID:771472009 | MONDO:0017782 | Developmental and speech delay due to SRY-box 5 deficiency | UMLS ID:C4749915 | Developmental and speech delay due to SOX5 (SRY-box 5) deficiency | Developmental and speech delay due to SOX5 deficiency +BMGC_DS17445,BMG_DS066724,UMLS ID:C4749917 | OMIM ID:619182 | MONDO:0017790 | gastric adenocarcinoma and proximal polyposis of the stomach +BMGC_DS17446,BMG_DS066725,"SNOMEDCT ID:771475006 | Young adult-onset distal hereditary motor neuropathy (disorder) | OMIM ID:614881 | UMLS ID:C4749918 | Young adult-onset distal hereditary motor neuropathy | Autosomal recessive distal spinal muscular atrophy type 5 | MONDO:0013947 | neuronopathy, distal hereditary motor, autosomal recessive 5" +BMGC_DS17447,BMG_DS066728,SNOMEDCT ID:771478008 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency (disorder) | COXPD10 - combined oxidative phosphorylation defect type 10 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | UMLS ID:C4749921 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimisation 1 deficiency | MONDO:0013865 | Combined oxidative phosphorylation defect type 10 | OMIM ID:614702 | mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency +BMGC_DS17448,BMG_DS066729,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 | Combined immunodeficiency due to STK4 deficiency | UMLS ID:C4749922 +BMGC_DS17449,BMG_DS066732,X-linked central congenital hypothyroidism with late-onset macroorchidism | UMLS ID:C4749943 | X-linked central congenital hypothyroidism with late-onset testicular enlargement | SNOMEDCT ID:771510006 | X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | IGSF1 (immunoglobulin superfamily member 1) deficiency syndrome +BMGC_DS17450,BMG_DS066733,MONDO:0018000 | Thrombocythemia with distal limb defect (disorder) | Familial thrombocytosis with transverse limb defect | Hereditary thrombocytosis with transverse limb defect | UMLS ID:C4749944 | hereditary thrombocytosis with transverse limb defect | Thrombocythemia with distal limb defect | SNOMEDCT ID:771511005 | Thrombocythaemia with distal limb defect +BMGC_DS17451,BMG_DS066734,Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency | Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency (disorder) | AUTS2 syndrome | UMLS ID:C4749945 | Autism spectrum disorder due to AUTS2 deficiency | SNOMEDCT ID:771512003 +BMGC_DS17452,BMG_DS066735,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 | UMLS ID:C4749946 | SNOMEDCT ID:771513008 +BMGC_DS17453,BMG_DS066736,"UMLS ID:C4749947 | Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) | SNOMEDCT ID:771514002 | Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome" +BMGC_DS17454,BMG_DS066737,"Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | SNOMEDCT ID:771515001 | Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder) | FILS syndrome | UMLS ID:C4749948 | FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome" +BMGC_DS17455,BMG_DS066738,Severe combined immunodeficiency due to CARD11 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 | UMLS ID:C4749949 | Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency (disorder) | SNOMEDCT ID:771517009 +BMGC_DS17456,BMG_DS066874,"UMLS ID:C4750718 | Cyclin-dependent kinase-like 5 deficiency | CDKL5 (cyclin-dependent kinase-like 5) deficiency | SNOMEDCT ID:773230003 | Cyclin-dependent kinase-like 5 deficiency (disorder) | CDKL5-related epileptic encephalopathy | developmental and epileptic encephalopathy, 2 | CDKL5 deficiency disorder | OMIM ID:300672 | MONDO:0010396" +BMGC_DS17457,BMG_DS066904,"Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Microcephaly, polymicrogyria, corpus callosum agenesis syndrome | SNOMEDCT ID:773305003 | microcephaly-polymicrogyria-corpus callosum agenesis syndrome | UMLS ID:C4750772 | MONDO:0015745" +BMGC_DS17458,BMG_DS066905,SNOMEDCT ID:773306002 | Congenital lethal myopathy Compton North type (disorder) | UMLS ID:C4750773 | Congenital lethal myopathy Compton North type +BMGC_DS17459,BMG_DS066906,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | SNOMEDCT ID:773308001 | UMLS ID:C4750774 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (disorder) | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type A +BMGC_DS17460,BMG_DS066909,SNOMEDCT ID:773326003 | 7q31 microdeletion syndrome (disorder) | UMLS ID:C4750783 | 7q31 microdeletion syndrome | Monosomy 7q31 | MONDO:0016656 +BMGC_DS17461,BMG_DS066911,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type B | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B | SNOMEDCT ID:773330000 | UMLS ID:C4750786 +BMGC_DS17462,BMG_DS066912,UMLS ID:C4750787 | SNOMEDCT ID:773333003 | Autosomal systemic lupus erythematosus (disorder) | Autosomal systemic lupus erythematosus | Familial systemic lupus erythematosus | Autosomal SLE (systemic lupus erythematosus) +BMGC_DS17463,BMG_DS066913,SNOMEDCT ID:773345007 | UMLS ID:C4750788 | Oligodontia and cancer predisposition syndrome (disorder) | Oligodontia and cancer predisposition syndrome +BMGC_DS17464,BMG_DS066917,"Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome | UMLS ID:C4750835 | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder) | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | SNOMEDCT ID:773398005" +BMGC_DS17465,BMG_DS066919,Bainbridge-Ropers syndrome | UMLS ID:C4750837 | MeSH ID:C000726367 | MONDO:0014205 | severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | OMIM ID:615485 +BMGC_DS17466,BMG_DS066920,Intellectual disability with strabismus syndrome | UMLS ID:C4750838 | intellectual disability-strabismus syndrome | MONDO:0014119 | OMIM ID:615286 | Intellectual disability with strabismus syndrome (disorder) | SNOMEDCT ID:773405004 +BMGC_DS17467,BMG_DS066922,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) | SNOMEDCT ID:773414009 | UMLS ID:C4750846 | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type C | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C +BMGC_DS17468,BMG_DS066924,SNOMEDCT ID:773418007 | XYLT1-CDG | XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation | UMLS ID:C4750849 | XYLT1-congenital disorder of glycosylation | Xylosyltransferase 1 congenital disorder of glycosylation (disorder) | MONDO:0018273 | Xylosyltransferase 1 congenital disorder of glycosylation +BMGC_DS17469,BMG_DS066926,"Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome | Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome | SNOMEDCT ID:773419004 | UMLS ID:C4750851 | Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder)" +BMGC_DS17470,BMG_DS066928,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression | SNOMEDCT ID:773421009 | UMLS ID:C4750853 | MONDO:0018314 | Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) | infantile-onset mesial temporal lobe epilepsy with severe cognitive regression +BMGC_DS17471,BMG_DS066929,UMLS ID:C4750854 | East Texas bleeding disorder (disorder) | SNOMEDCT ID:773422002 | East Texas bleeding disorder +BMGC_DS17472,BMG_DS066930,UMLS ID:C4750855 | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) | SNOMEDCT ID:773423007 | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency +BMGC_DS17473,BMG_DS066932,Autosomal recessive spastic paraplegia type 59 (disorder) | SNOMEDCT ID:773425000 | UMLS ID:C4750857 | Autosomal recessive spastic paraplegia type 59 | MONDO:0018416 | autosomal recessive spastic paraplegia type 59 +BMGC_DS17474,BMG_DS066933,MONDO:0018203 | SNOMEDCT ID:773426004 | Lamin A/C related cardiocutaneous progeria syndrome (disorder) | Lamin A/C related cardiocutaneous progeria syndrome | UMLS ID:C4750858 | LMNA-related cardiocutaneous progeria syndrome +BMGC_DS17475,BMG_DS066943,Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency | Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder) | SNOMEDCT ID:773488000 | Combined immunodeficiency due to MALT1 deficiency | UMLS ID:C4750906 +BMGC_DS17476,BMG_DS066944,Hereditary cryohydrocytosis with normal stomatin (disorder) | SNOMEDCT ID:773489008 | UMLS ID:C4750907 | Hereditary cryohydrocytosis with normal stomatin +BMGC_DS17477,BMG_DS066950,"MONDO:0018430 | partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | SNOMEDCT ID:773497001 | UMLS ID:C4750913 | Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome (disorder)" +BMGC_DS17478,BMG_DS066951,"UMLS ID:C4750914 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | SCAR23 - spinocerebellar ataxia autosomal recessive type 23 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) | OMIM ID:616949 | spinocerebellar ataxia, autosomal recessive 23 | Spinocerebellar ataxia autosomal recessive type 23 | MONDO:0014846 | SNOMEDCT ID:773498006" +BMGC_DS17479,BMG_DS066954,SNOMEDCT ID:773501006 | Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | Epidermolysis bullosa simplex due to BP230 deficiency | UMLS ID:C4750917 | DST (dystonin) related epidermolysis bullosa simplex +BMGC_DS17480,BMG_DS066955,UMLS ID:C4750918 | Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | SNOMEDCT ID:773503009 | Epidermolysis bullosa simplex due to exophilin 5 deficiency +BMGC_DS17481,BMG_DS066965,"Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | SNOMEDCT ID:773548008 | Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) | UMLS ID:C4750952" +BMGC_DS17482,BMG_DS066966,UMLS ID:C4750953 | Maternal riboflavin deficiency | MONDO:0014013 | Maternal riboflavin deficiency (disorder) | maternal riboflavin deficiency | SNOMEDCT ID:773549000 +BMGC_DS17483,BMG_DS066967,"Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome | UMLS ID:C4750954 | SNOMEDCT ID:773551001 | Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)" +BMGC_DS17484,BMG_DS066968,"Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (disorder) | SNOMEDCT ID:773552008 | Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | UMLS ID:C4750955" +BMGC_DS17485,BMG_DS066969,"Severe neurodegenerative syndrome with lipodystrophy (disorder) | Severe neurodegenerative syndrome due to BSCL2, seipin lipid droplet biogenesis associated deficiency | Severe neurodegenerative syndrome with lipodystrophy | UMLS ID:C4750956 | Severe neurodegenerative syndrome due to BSCL2 deficiency | SNOMEDCT ID:773555005" +BMGC_DS17486,BMG_DS066974,"Progressive retinal dystrophy due to retinol transport defect (disorder) | Progressive retinal dystrophy due to retinol transport defect | Retinol dystrophy, iris coloboma, comedogenic acne syndrome | UMLS ID:C4751000 | SNOMEDCT ID:773576000" +BMGC_DS17487,BMG_DS066975,"Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome (disorder) | UMLS ID:C4751001 | SNOMEDCT ID:773577009 | Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome" +BMGC_DS17488,BMG_DS066977,SNOMEDCT ID:773579007 | Congenital chronic diarrhea with exudative enteropathy | Congenital chronic diarrhea with protein-losing enteropathy (disorder) | Congenital chronic diarrhoea with protein-losing enteropathy | Congenital chronic diarrhoea with exudative enteropathy | Congenital chronic diarrhea with protein-losing enteropathy | UMLS ID:C4751003 +BMGC_DS17489,BMG_DS066980,"UMLS ID:C4751008 | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | SNOMEDCT ID:773587008" +BMGC_DS17490,BMG_DS067000,"SNOMEDCT ID:773627004 | Porencephaly, microcephaly, bilateral congenital cataract syndrome | UMLS ID:C4751076 | Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)" +BMGC_DS17491,BMG_DS067001,"Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome | Frontonasal dysplasia type 3 | SNOMEDCT ID:773628009 | ALX1-related frontonasal dysplasia | Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | ALX1 (aristaless-like homeobox 1) related frontonasal dysplasia | UMLS ID:C4751077" +BMGC_DS17492,BMG_DS067013,"Multiple congenital anomalies, hypotonia, seizures syndrome type 2 | UMLS ID:C4751110 | Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder) | SNOMEDCT ID:773643006 | MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 2" +BMGC_DS17493,BMG_DS067014,"Progeroid and marfanoid aspect, lipodystrophy syndrome | UMLS ID:C4751111 | Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | SNOMEDCT ID:773644000" +BMGC_DS17494,BMG_DS067016,"Nephrotic syndrome, hearing loss, pretibial epidermolysis bullosa syndrome | SNOMEDCT ID:773647007 | UMLS ID:C4751113 | Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome (disorder) | Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome" +BMGC_DS17495,BMG_DS067017,"Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) | UMLS ID:C4751114 | Huppke-Brendel syndrome | Congenital cataract, hearing loss, severe developmental delay syndrome | MONDO:0013772 | SNOMEDCT ID:773648002 | Lethal neurodegenerative disorder due to copper transport defect | OMIM ID:614482 | Congenital cataract, deafness, severe developmental delay syndrome" +BMGC_DS17496,BMG_DS067018,Transient infantile hypertriglyceridaemia and hepatosteatosis | Transient infantile hypertriglyceridemia and hepatosteatosis (disorder) | Transient infantile hypertriglyceridaemia and fatty liver | Transient infantile hypertriglyceridemia and hepatosteatosis | UMLS ID:C4751115 | Transient infantile hypertriglyceridemia and fatty liver | SNOMEDCT ID:773649005 +BMGC_DS17497,BMG_DS067019,neonatal inflammatory skin and bowel disease | MONDO:0017411 | UMLS ID:C4751120 | Neonatal inflammatory skin and bowel disease | Neonatal inflammatory skin and bowel disease (disorder) | SNOMEDCT ID:773662009 +BMGC_DS17498,BMG_DS067021,"SNOMEDCT ID:773664005 | deficiency in anterior pituitary function - variable immunodeficiency syndrome | MONDO:0017407 | UMLS ID:C4751122 | Deficiency in anterior pituitary function, variable immunodeficiency syndrome | DAVID (deficiency in anterior pituitary function, variable immunodeficiency) syndrome | Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)" +BMGC_DS17499,BMG_DS067023,Hypoinsulinemic hypoglycaemia and body hemihypertrophy | Hypoinsulinemic hypoglycemia and body hemihypertrophy (disorder) | UMLS ID:C4751124 | SNOMEDCT ID:773666007 | Hypoinsulinemic hypoglycemia and body hemihypertrophy +BMGC_DS17500,BMG_DS067024,"Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | hypertelorism-preauricular sinus-punctual pits-deafness syndrome | MONDO:0013614 | SNOMEDCT ID:773667003 | Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome | HPPD (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome | UMLS ID:C4751125 | OMIM ID:614187" +BMGC_DS17501,BMG_DS067026,"UMLS ID:C4751129 | Lethal occipital encephalocele, skeletal dysplasia syndrome | Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) | SNOMEDCT ID:773672007" +BMGC_DS17502,BMG_DS067027,"UMLS ID:C4751130 | SNOMEDCT ID:773673002 | Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome | Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Hypoplastic pancreas, intestinal atresia, hypoplastic gallbladder syndrome" +BMGC_DS17503,BMG_DS067028,UMLS ID:C4751138 | SNOMEDCT ID:773668008 | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | Childhood encephalopathy due to thiamin pyrophosphokinase deficiency | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder) +BMGC_DS17504,BMG_DS067052,MONDO:0016377 | Pitt-Hopkins-like syndrome | UMLS ID:C4751168 +BMGC_DS17505,BMG_DS067060,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | SNOMEDCT ID:773726000 | UMLS ID:C4751204 | hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (disorder) | MONDO:0016203 | Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency +BMGC_DS17506,BMG_DS067061,UMLS ID:C4751205 | Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | Osteopetrosis hypogammaglobulinemia syndrome (disorder) | Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia | SNOMEDCT ID:773730002 | Osteopetrosis hypogammaglobulinaemia syndrome | Autosomal recessive osteopetrosis type 7 | Osteopetrosis hypogammaglobulinemia syndrome +BMGC_DS17507,BMG_DS067072,SNOMEDCT ID:773771008 | UMLS ID:C4751232 | Rare isolated myopia (disorder) | Rare isolated myopia +BMGC_DS17508,BMG_DS067104,UMLS ID:C4751434 | isolated asymptomatic elevation of creatine phosphokinase | MONDO:0016103 +BMGC_DS17509,BMG_DS067111,MONDO:0018475 | Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments | UMLS ID:C4751505 | 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 +BMGC_DS17510,BMG_DS067112,"Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome | FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) | UMLS ID:C4751506 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | SNOMEDCT ID:774070008 | MONDO:0018443" +BMGC_DS17511,BMG_DS067113,SNOMEDCT ID:774071007 | Pancytopenia with developmental delay syndrome | UMLS ID:C4751507 | Trilineage bone marrow failure with developmental delay syndrome | Pancytopenia with developmental delay syndrome (disorder) +BMGC_DS17512,BMG_DS067127,"SNOMEDCT ID:774150004 | 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)" +BMGC_DS17513,BMG_DS067128,SNOMEDCT ID:774151000 | MONDO:0018346 | Cerebro-cutaneous syndrome with iron overload | Ferro-cerebro-cutaneous syndrome (disorder) | OMIM ID:301072 | ferro-cerebro-cutaneous syndrome | Ferro-cerebro-cutaneous syndrome | UMLS ID:C4751570 +BMGC_DS17514,BMG_DS067129,Retinal dystrophy with inner nuclear layer and ganglion cell anomalies | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder) | UMLS ID:C4751571 | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | SNOMEDCT ID:774152007 +BMGC_DS17515,BMG_DS067130,Periodic paralysis with transient compartment-like syndrome (disorder) | UMLS ID:C4751572 | Periodic paralysis with transient compartment-like syndrome | SNOMEDCT ID:774153002 +BMGC_DS17516,BMG_DS067131,SNOMEDCT ID:774154008 | Periodic paralysis with later-onset distal motor neuropathy | MONDO:0018343 | UMLS ID:C4751573 | Periodic paralysis with later-onset distal motor neuropathy (disorder) | periodic paralysis with later-onset distal motor neuropathy +BMGC_DS17517,BMG_DS067132,"Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder) | UMLS ID:C4751574 | SAMS syndrome | SNOMEDCT ID:774155009 | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome" +BMGC_DS17518,BMG_DS067133,"SNOMEDCT ID:774203000 | Intellectual disability, severe speech delay, mild dysmorphism syndrome | Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) | UMLS ID:C4751594" +BMGC_DS17519,BMG_DS067134,"SNOMEDCT ID:774204006 | Growth retardation, mild developmental delay, chronic hepatitis syndrome (disorder) | UMLS ID:C4751595 | Growth retardation, mild developmental delay, chronic hepatitis syndrome | growth retardation-mild developmental delay-chronic hepatitis syndrome | MONDO:0018317" +BMGC_DS17520,BMG_DS067135,"Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder) | UMLS ID:C4751596 | SNOMEDCT ID:774205007 | Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome" +BMGC_DS17521,BMG_DS067136,SNOMEDCT ID:774206008 | UMLS ID:C4751597 | Fatal post-viral neurodegenerative disorder (disorder) | Fatal post-viral neurodegenerative disorder | fatal post-viral neurodegenerative disorder | MONDO:0018316 +BMGC_DS17522,BMG_DS067137,Acute infantile liver failure with multisystemic involvement syndrome (disorder) | Acute infantile liver failure with multisystemic involvement syndrome | SNOMEDCT ID:774207004 | UMLS ID:C4751598 +BMGC_DS17523,BMG_DS067141,"MMCAT syndrome | UMLS ID:C4751602 | SNOMEDCT ID:774212003 | Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | MMCAT (microcornea, myopic chorioretinal atrophy, telecanthus) syndrome" +BMGC_DS17524,BMG_DS067143,"Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | SNOMEDCT ID:775909002 | VPS45 deficiency | Congenital neutropenia, myelofibrosis, nephromegaly syndrome | Congenital neutropenia, bone marrow fibrosis, nephromegaly syndrome | UMLS ID:C4755251" +BMGC_DS17525,BMG_DS067144,SNOMEDCT ID:776087007 | MONDO:0018218 | Autosomal recessive cerebral atrophy (disorder) | autosomal recessive cerebral atrophy | UMLS ID:C4755252 | Autosomal recessive cerebral atrophy +BMGC_DS17526,BMG_DS067146,"Hypomyelination with brain stem and spinal cord involvement and leg spasticity | HBSL - hypomyelination, brain stem, spinal cord, leg spasticity | UMLS ID:C4755254 | Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | SNOMEDCT ID:777999008 | hypomyelination with brain stem and spinal cord involvement and leg spasticity | MONDO:0014115 | OMIM ID:615281" +BMGC_DS17527,BMG_DS067148,SNOMEDCT ID:778001003 | Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy | KCNQ2-related epileptic encephalopathy | Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) | KCNQ2-NEE - potassium voltage-gated channel subfamily Q member 2-related neonatal epileptic encephalopathy | UMLS ID:C4755256 | KCNQ2-related neonatal epileptic encephalopathy +BMGC_DS17528,BMG_DS067149,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | SNOMEDCT ID:778003000 | UMLS ID:C4755257 | autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (disorder) | MONDO:0017937 +BMGC_DS17529,BMG_DS067151,Autosomal dominant aplastic anaemia and myelodysplasia | Autosomal dominant aplasia and myelodysplasia (disorder) | Autosomal dominant aplastic anemia and myelodysplasia | SNOMEDCT ID:778006008 | UMLS ID:C4755259 | Autosomal dominant aplasia and myelodysplasia +BMGC_DS17530,BMG_DS067152,12p12.1 microdeletion syndrome (disorder) | SNOMEDCT ID:778007004 | Monosomy 12p12.1 | UMLS ID:C4755260 | 12p12.1 microdeletion syndrome | MONDO:0017781 +BMGC_DS17531,BMG_DS067153,UMLS ID:C4755261 | Fibroblast growth factor receptor 2-related bent bone dysplasia | FGFR2-related bent bone dysplasia | Perinatal lethal bent bone dysplasia | SNOMEDCT ID:778008009 | Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) +BMGC_DS17532,BMG_DS067155,"UMLS ID:C4755263 | skin fragility-woolly hair-palmoplantar keratoderma syndrome | Skin fragility, wooly hair, palmoplantar keratoderma syndrome | OMIM ID:607655 | Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | SNOMEDCT ID:778010006 | MONDO:0011882" +BMGC_DS17533,BMG_DS067156,UMLS ID:C4755264 | SNOMEDCT ID:778011005 | Severe intellectual disability and progressive spastic paraplegia | Severe intellectual disability and progressive spastic paraplegia (disorder) | AP4 deficiency syndrome +BMGC_DS17534,BMG_DS067160,"SNOMEDCT ID:778021002 | Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome | UMLS ID:C4755272 | Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder) | Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome" +BMGC_DS17535,BMG_DS067161,Syndromic multisystem autoimmune disease due to ITCH deficiency | UMLS ID:C4755273 | SNOMEDCT ID:778023004 | Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) +BMGC_DS17536,BMG_DS067162,Atypical hypotonia cystinuria syndrome | atypical hypotonia-cystinuria syndrome | SNOMEDCT ID:778025006 | Atypical hypotonia cystinuria syndrome (disorder) | UMLS ID:C4755274 | MONDO:0016539 +BMGC_DS17537,BMG_DS067163,SNOMEDCT ID:778026007 | Lethal polymalformative syndrome Boissel type (disorder) | Lethal polymalformative syndrome Boissel type | UMLS ID:C4755275 +BMGC_DS17538,BMG_DS067164,UMLS ID:C4755276 | Primary CD59 deficiency (disorder) | SNOMEDCT ID:778027003 | Primary CD59 deficiency +BMGC_DS17539,BMG_DS067165,UMLS ID:C4755277 | Immunodeficiency due to CD25 deficiency (disorder) | Interleukin-2 receptor alpha chain deficiency | SNOMEDCT ID:778028008 | Immunodeficiency due to CD25 deficiency +BMGC_DS17540,BMG_DS067166,SNOMEDCT ID:778029000 | UMLS ID:C4755278 | FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | FAST kinase domains 2-related infantile mitochondrial encephalomyopathy | MONDO:0015632 | FASTKD2-related infantile mitochondrial encephalomyopathy +BMGC_DS17541,BMG_DS067174,Susceptibility to viral and mycobacterial infection (disorder) | STAT1 deficiency | Susceptibility to viral and mycobacterial infection | SNOMEDCT ID:778045003 | Signal transducer and activator of transcription 1 deficiency | UMLS ID:C4755296 +BMGC_DS17542,BMG_DS067177,MT-ATP6-related mitochondrial spastic paraplegia | Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) | maternally-inherited spastic paraplegia | Maternally-inherited spastic paraplegia | MONDO:0017917 | UMLS ID:C4755299 | Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia | SNOMEDCT ID:778048001 +BMGC_DS17543,BMG_DS067180,Focal palmoplantar keratoderma with joint keratoses (disorder) | UMLS ID:C4755302 | Focal palmoplantar keratoderma with joint keratoses | SNOMEDCT ID:778051008 | MONDO:0018252 | focal palmoplantar keratoderma with joint keratoses +BMGC_DS17544,BMG_DS067181,"Collagen type IV alpha 1 chain related familial vascular leucoencephalopathy | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy | SNOMEDCT ID:778060000 | COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leucoencephalopathy syndrome | COL4A1-related familial vascular leucoencephalopathy | COL4A1-related familial vascular leukoencephalopathy | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | 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 | UMLS ID:C4755307" +BMGC_DS17545,BMG_DS067183,Diffuse palmoplantar keratoderma with painful fissures (disorder) | UMLS ID:C4755309 | SNOMEDCT ID:778062008 | Diffuse palmoplantar keratoderma with painful fissures | MONDO:0018250 | diffuse palmoplantar keratoderma with painful fissures +BMGC_DS17546,BMG_DS067186,UMLS ID:C4755312 | MONDO:0013986 | Combined oxidative phosphorylation defect type 14 | OMIM ID:614946 | Combined oxidative phosphorylation defect type 14 (disorder) | combined oxidative phosphorylation defect type 14 | COXPD14 - combined oxidative phosphorylation defect type 14 | SNOMEDCT ID:778065005 +BMGC_DS17547,BMG_DS067189,UMLS ID:C4757947 | Undifferentiated myeloproliferative disease (disorder) | SNOMEDCT ID:780817000 | CMPD-U - chronic myeloproliferative disease unclassifiable | Undifferentiated myeloproliferative disease +BMGC_DS17548,BMG_DS067190,Isolated ATP synthase deficiency | Isolated adenosine triphosphate synthase deficiency (disorder) | mitochondrial complex V (ATP synthase) deficiency | mitochondrial proton-transporting ATP synthase complex deficiency | UMLS ID:C4757950 | MONDO:0014471 | Isolated mitochondrial respiratory chain complex V deficiency | DOID:0111143 | Isolated adenosine triphosphate synthase deficiency | SNOMEDCT ID:780820008 +BMGC_DS17549,BMG_DS067364,Iodine deficiency (disorder) | SNOMEDCT ID:238121000 | Iodine deficiency | SNOMEDCT ID:191020009 | UMLS ID:C4759669 +BMGC_DS17550,BMG_DS067365,Deficiency of interleukin 36 receptor antagonist | DITRA - deficiency of interleukin 36 receptor antagonist | Deficiency of IL-36R antagonist | SNOMEDCT ID:784339002 | UMLS ID:C4759670 | Deficiency of interleukin 36 receptor antagonist (disorder) | Deficiency of IL-36Ra (interleukin 36 receptor antagonist) +BMGC_DS17551,BMG_DS067368,UMLS ID:C4759706 | MeSH ID:D003928 | Diabetic Glomerulosclerosis | Diabetic Nephropathies +BMGC_DS17552,BMG_DS067373,UMLS ID:C4759728 | MONDO:0012893 | OMIM ID:612400 | osteoarthritis susceptibility 5 +BMGC_DS17553,BMG_DS067374,OMIM ID:MTHU002631 | SNOMEDCT ID:784006008 | Kozlowski spondylometaphyseal dysplasia (disorder) | MONDO:0016763 | UMLS ID:C4759767 | Spondylometaphyseal dysplasia (disorder) | spondylometaphyseal dysplasia | Kozlowski spondylometaphyseal dysplasia | Spondylometaphyseal dysplasia | Spondylometaphyseal dysplasia Kozlowski type | SNOMEDCT ID:111304003 +BMGC_DS17554,BMG_DS067375,"Scapuloperoneal Myopathy, MYH7-Related | MeSH ID:D020389 | Muscular Dystrophy, Emery-Dreifuss | UMLS ID:C4759774" +BMGC_DS17555,BMG_DS067376,"OMIM ID:309580 | intellectual disability-hypotonic facies syndrome, X-linked, 1 | UMLS ID:C4759781 | INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 | MONDO:0010663" +BMGC_DS17556,BMG_DS067380,"MONDO:0011965 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 | UMLS ID:C4759869 | familial temporal lobe epilepsy 2 | DOID:0060755 | OMIM ID:608096" +BMGC_DS17557,BMG_DS067381,"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | MONDO:0011801 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 | UMLS ID:C4759870 | OMIM ID:607250 | OMIM ID:607198" +BMGC_DS17558,BMG_DS067382,"autosomal dominant nonsyndromic deafness 37 | MONDO:0032802 | DOID:0070601 | hearing loss, autosomal dominant 37 | OMIM ID:618533 | DEAFNESS, AUTOSOMAL DOMINANT 37 | OMIM ID:120280 | UMLS ID:C4760307" +BMGC_DS17559,BMG_DS067384,Osteoarthritis | MeSH ID:D010003 | Arthrosis | UMLS ID:C4760573 +BMGC_DS17560,BMG_DS067385,OMIM ID:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2 | MONDO:0100102 | OMIM ID:601592 | UMLS ID:C4760576 | fetal akinesia deformation sequence syndrome 2 | DOID:0111378 | fetal akinesia deformation sequence 2 +BMGC_DS17561,BMG_DS067386,OMIM ID:602552 | fetal akinesia deformation sequence syndrome 4 | fetal akinesia deformation sequence 4 | MONDO:0100104 | FETAL AKINESIA DEFORMATION SEQUENCE 4 | OMIM ID:618393 | UMLS ID:C4760578 | DOID:0111379 +BMGC_DS17562,BMG_DS067387,"OMIM ID:616178 | UMLS ID:C4760579 | MONDO:0032776 | hearing loss, autosomal recessive 99 | autosomal recessive nonsyndromic deafness 99 | DEAFNESS, AUTOSOMAL RECESSIVE 99 | DOID:0111634 | OMIM ID:618481" +BMGC_DS17563,BMG_DS067388,MONDO:0032791 | UMLS ID:C4760583 | COFFIN-SIRIS SYNDROME 10 | OMIM ID:618506 | DOID:0112371 | Coffin-Siris syndrome 10 +BMGC_DS17564,BMG_DS067389,OMIM ID:618389 | MONDO:0100103 | DOID:0111376 | OMIM ID:610285 | fetal akinesia deformation sequence 3 | UMLS ID:C4760599 | fetal akinesia deformation sequence syndrome 3 | FETAL AKINESIA DEFORMATION SEQUENCE 3 +BMGC_DS17565,BMG_DS067390,MONDO:0032773 | uridine-cytidineuria | UMLS ID:C4760647 | OMIM ID:618477 +BMGC_DS17566,BMG_DS067391,UMLS ID:C4760764 | Aneurysm osteoarthritis syndrome | SNOMEDCT ID:785808002 | Aneurysm osteoarthritis syndrome (disorder) +BMGC_DS17567,BMG_DS067392,Recessive mitochondrial ataxia syndrome (disorder) | MIRAS - mitochondrial recessive ataxia syndrome | recessive mitochondrial ataxia syndrome | UMLS ID:C4760799 | MONDO:0019791 | SNOMEDCT ID:782696001 | Recessive mitochondrial ataxia syndrome +BMGC_DS17568,BMG_DS067393,horizontal gaze palsy with progressive scoliosis | UMLS ID:C4760875 | MeSH ID:C564593 | MONDO:0011810 | Familial Horizontal Gaze Palsy with Progressive Scoliosis +BMGC_DS17569,BMG_DS067394,MONDO:0018662 | Autosomal recessive brachyolmia | autosomal recessive brachyolmia | Brachyolmia Hobaek/Toledo type | SNOMEDCT ID:783789002 | UMLS ID:C4760908 | Autosomal recessive brachyolmia (disorder) +BMGC_DS17570,BMG_DS067395,UMLS ID:C4760957 | MONDO:0016676 | recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome +BMGC_DS17571,BMG_DS067398,UMLS ID:C4761103 | Myasthenia Gravis | MeSH ID:D009157 | Muscle-Specific Receptor Tyrosine Kinase Myasthenia Gravis +BMGC_DS17572,BMG_DS067406,Glucagon receptor-related hyperglucagonemia (disorder) | Mahvash disease | MONDO:0018582 | GCGR-related hyperglucagonaemia | GCGR-related hyperglucagonemia | UMLS ID:C4763635 | OMIM ID:619290 | Glucagon receptor-related hyperglucagonaemia | SNOMEDCT ID:1228875006 | Glucagon receptor-related hyperglucagonemia +BMGC_DS17573,BMG_DS067410,bilateral generalized polymicrogyria | MONDO:0013907 | UMLS ID:C5139324 +BMGC_DS17574,BMG_DS067494,Autosomal recessive cerebellar ataxia due to STUB1 deficiency | SNOMEDCT ID:782719004 | autosomal recessive spinocerebellar ataxia 16 | Autosomal recessive cerebellar ataxia due to STUB1 (STIP1 homology and U-box containing protein 1) deficiency | Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency | UMLS ID:C5190574 | MONDO:0014339 | OMIM ID:615768 | SCAR16 - spinocerebellar ataxia autosomal recessive type 16 | Spinocerebellar ataxia autosomal recessive type 16 | Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder) +BMGC_DS17575,BMG_DS067495,pontocerebellar hypoplasia type 10 | CLP1-related pontocerebellar hypoplasia | UMLS ID:C5190575 | OMIM ID:615803 | SNOMEDCT ID:782720005 | CLP1 (cleavage and polyadenylation factor I subunit 1) related pontocerebellar hypoplasia | MONDO:0014349 | Congenital pontocerebellar hypoplasia type 10 (disorder) | Congenital pontocerebellar hypoplasia type 10 +BMGC_DS17576,BMG_DS067496,"SNOMEDCT ID:782723007 | Severe intellectual disability, progressive spastic diplegia syndrome | UMLS ID:C5190576 | Severe intellectual disability, progressive spastic diplegia syndrome (disorder)" +BMGC_DS17577,BMG_DS067497,Autosomal recessive spastic paraplegia type 69 (disorder) | UMLS ID:C5190577 | Autosomal recessive spastic paraplegia type 69 | autosomal recessive spastic paraplegia type 69 | MONDO:0018421 | SNOMEDCT ID:782725000 +BMGC_DS17578,BMG_DS067498,autosomal recessive spastic paraplegia type 71 | SNOMEDCT ID:782726004 | MONDO:0018423 | Autosomal recessive spastic paraplegia type 71 | Autosomal recessive spastic paraplegia type 71 (disorder) | UMLS ID:C5190578 +BMGC_DS17579,BMG_DS067500,"Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | UMLS ID:C5190582 | SNOMEDCT ID:782736007 | Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency | Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency" +BMGC_DS17580,BMG_DS067501,"Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder) | Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome | SNOMEDCT ID:782737003 | UMLS ID:C5190583" +BMGC_DS17581,BMG_DS067503,UMLS ID:C5190585 | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (disorder) | Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons | SNOMEDCT ID:782742006 +BMGC_DS17582,BMG_DS067504,C9ORF72-related Huntington disease phenocopy | Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions | UMLS ID:C5190586 | SNOMEDCT ID:782743001 | Huntington disease-like syndrome due to C9ORF72 expansions | MONDO:0018425 | Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) +BMGC_DS17583,BMG_DS067505,SNOMEDCT ID:782744007 | UMLS ID:C5190587 | Lipoic acid synthetase deficiency | Lipoic acid synthetase deficiency (disorder) +BMGC_DS17584,BMG_DS067506,SNOMEDCT ID:782745008 | UMLS ID:C5190588 | Lipoyl transferase 1 deficiency | Lipoyl transferase 1 deficiency (disorder) +BMGC_DS17585,BMG_DS067507,UMLS ID:C5190589 | autosomal recessive spastic paraplegia type 60 | Autosomal recessive spastic paraplegia type 60 | SNOMEDCT ID:782746009 | MONDO:0018417 | Autosomal recessive spastic paraplegia type 60 (disorder) +BMGC_DS17586,BMG_DS067508,autosomal recessive spastic paraplegia type 66 | Autosomal recessive spastic paraplegia type 66 (disorder) | SNOMEDCT ID:782747000 | UMLS ID:C5190590 | Autosomal recessive spastic paraplegia type 66 | MONDO:0018418 +BMGC_DS17587,BMG_DS067510,UMLS ID:C5190593 | Severe combined immunodeficiency due to IKK2 deficiency | Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency | SNOMEDCT ID:782751003 | Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder) +BMGC_DS17588,BMG_DS067511,"Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome | SNOMEDCT ID:782752005 | Peripheral neuropathy, myopathy, hoarseness, deafness syndrome | UMLS ID:C5190594 | Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder)" +BMGC_DS17589,BMG_DS067512,"MONDO:0014601 | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder) | OMIM ID:616354 | Autosomal recessive spinocerebellar ataxia type 20 | SCAR20 - autosomal recessive spinocerebellar ataxia type 20 | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | autosomal recessive spinocerebellar ataxia 20 | UMLS ID:C5190595 | SNOMEDCT ID:782753000" +BMGC_DS17590,BMG_DS067513,"SNOMEDCT ID:782754006 | DOID:0070531 | Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome | FHONDA syndrome | Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) syndrome | foveal hypoplasia 2 | UMLS ID:C5190596" +BMGC_DS17591,BMG_DS067514,"UMLS ID:C5190597 | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | SNOMEDCT ID:782755007 | primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome | MONDO:0018320" +BMGC_DS17592,BMG_DS067517,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia | X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | SNOMEDCT ID:782759001 | UMLS ID:C5190600 +BMGC_DS17593,BMG_DS067518,"Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form | Mitochondrial DNA depletion syndrome hepatocerebrorenal form | mitochondrial DNA depletion syndrome, hepatocerebrorenal form | SNOMEDCT ID:782771007 | UMLS ID:C5190602 | Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form (disorder) | MONDO:0018197" +BMGC_DS17594,BMG_DS067519,OMIM ID:615042 | Carbohydrate deficient glycoprotein syndrome type 1u | UMLS ID:C5190603 | SNOMEDCT ID:782772000 | Congenital disorder of glycosylation type 1u | Congenital muscular dystrophy with intellectual disability and severe epilepsy | MONDO:0014023 | Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder) | congenital muscular dystrophy with intellectual disability and severe epilepsy +BMGC_DS17595,BMG_DS067520,SNOMEDCT ID:782773005 | Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | UMLS ID:C5190604 | Lethal arteriopathy syndrome due to fibulin-4 deficiency | lethal arteriopathy syndrome due to fibulin-4 deficiency | MONDO:0017818 +BMGC_DS17596,BMG_DS067523,High bone mass osteogenesis imperfecta | MONDO:0017791 | SNOMEDCT ID:782781006 | UMLS ID:C5190607 | high bone mass osteogenesis imperfecta | High bone mass osteogenesis imperfecta (disorder) +BMGC_DS17597,BMG_DS067524,UMLS ID:C5190608 | Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) | SNOMEDCT ID:782782004 | Autosomal recessive spondylometaphyseal dysplasia Megarbane type +BMGC_DS17598,BMG_DS067525,SNOMEDCT ID:782785002 | X-linked osteoporosis with fractures (disorder) | UMLS ID:C5190610 | X-linked osteoporosis with fractures | MONDO:0018315 +BMGC_DS17599,BMG_DS067526,X-linked calvarial hyperostosis (disorder) | X-linked calvarial hyperostosis | OMIM ID:302030 | UMLS ID:C5190611 | MONDO:0010541 | SNOMEDCT ID:782786001 +BMGC_DS17600,BMG_DS067529,UMLS ID:C5190630 | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | SNOMEDCT ID:782823001 +BMGC_DS17601,BMG_DS067530,UMLS ID:C5190631 | Sodium channelopathy-related small fiber neuropathy (disorder) | Sodium channelopathy-related small fibre neuropathy | Sodium channelopathy-related small fiber neuropathy | SNOMEDCT ID:782824007 +BMGC_DS17602,BMG_DS067531,"SNOMEDCT ID:782825008 | Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder) | UMLS ID:C5190632" +BMGC_DS17603,BMG_DS067532,Developmental delay due to MMSDH (methylmalonate semialdehyde dehydrogenase) deficiency | Developmental delay due to ALDH6A1 (aldehyde dehydrogenase 6 family member A1) deficiency | SNOMEDCT ID:782828005 | UMLS ID:C5190633 | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency +BMGC_DS17604,BMG_DS067535,SNOMEDCT ID:782878007 | UMLS ID:C5190687 | Autosomal recessive nail dysplasia | Autosomal recessive nail dysplasia (disorder) +BMGC_DS17605,BMG_DS067536,UMLS ID:C5190689 | hemoglobinopathy Toms River | Transient neonatal cyanosis and anaemia due to Toms River Haemoglobin | Hemoglobinopathy Toms River | Haemoglobinopathy Toms River | Transient neonatal cyanosis and anemia due to Toms River Hemoglobin | Hemoglobinopathy Toms River (disorder) | SNOMEDCT ID:782880001 | MONDO:0017238 +BMGC_DS17606,BMG_DS067537,MONDO:0017237 | Hereditary sensorimotor neuropathy with hyperelastic skin | SNOMEDCT ID:782881002 | UMLS ID:C5190690 | Hereditary sensorimotor neuropathy with hyperelastic skin (disorder) | hereditary sensorimotor neuropathy with hyperelastic skin +BMGC_DS17607,BMG_DS067538,OMIM ID:613869 | fatal infantile hypertonic myofibrillar myopathy | MONDO:0013472 | UMLS ID:C5190691 | SNOMEDCT ID:782883004 | Fatal infantile hypertonic myofibrillar myopathy (disorder) | Fatal infantile hypertonic myofibrillar myopathy +BMGC_DS17608,BMG_DS067539,"Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | SNOMEDCT ID:782886007 | MONDO:0016981 | infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | UMLS ID:C5190692 | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome" +BMGC_DS17609,BMG_DS067540,UMLS ID:C5190693 | Inherited congenital spastic tetraplegia | Inherited congenital spastic tetraplegia (disorder) | SNOMEDCT ID:782887003 | Inherited congenital spastic quadriplegia +BMGC_DS17610,BMG_DS067543,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | Haemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | UMLS ID:C5190706 | MONDO:0015801 | SNOMEDCT ID:782909004 | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (disorder) +BMGC_DS17611,BMG_DS067544,Hereditary cryohydrocytosis type 2 | Stomatin-deficient cryohydrocytosis | UMLS ID:C5190707 | SNOMEDCT ID:782911008 | Hereditary cryohydrocytosis with reduced stomatin | CHC (hereditary cryohydrocytosis) type 2 | Hereditary cryohydrocytosis with reduced stomatin (disorder) | sdCHC - stomatin-deficient cryohydrocytosis +BMGC_DS17612,BMG_DS067546,"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 (disorder) | Recurrent Neisseria infection due to factor D deficiency | SNOMEDCT ID:783007005 | UMLS ID:C5190780 +BMGC_DS17614,BMG_DS067571,UMLS ID:C5190799 | Progressive myoclonic epilepsy type 5 | Progressive myoclonic epilepsy type 5 (disorder) | PME (progressive myoclonic epilepsy) type 5 | Progressive myoclonus epilepsy type 5 | SNOMEDCT ID:783055005 +BMGC_DS17615,BMG_DS067573,Atypical dentin dysplasia due to SMOC2 deficiency | atypical dentin dysplasia due to SMOC2 deficiency | UMLS ID:C5190802 | Dentin dysplasia type 1 with microdontia and shape anomalies | Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency | Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | SNOMEDCT ID:783059004 | MONDO:0017819 +BMGC_DS17616,BMG_DS067574,"MONDO:0013645 | autosomal recessive spinocerebellar ataxia 11 | Autosomal recessive spinocerebellar ataxia type 11 | UMLS ID:C5190803 | SNOMEDCT ID:783060009 | Autosomal recessive cerebellar ataxia, psychomotor delay syndrome | OMIM ID:614229 | Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)" +BMGC_DS17617,BMG_DS067575,"Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion | SNOMEDCT ID:783061008 | Deletion 10p11.21p12.31 | Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) | Monosomy 10p11.21p12.31 | UMLS ID:C5190804 | DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion | MONDO:0017283 | Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | 10p12p11 microdeletion syndrome" +BMGC_DS17618,BMG_DS067576,Progressive myoclonic epilepsy type 6 | GOSR2 (golgi SNAP receptor complex member 2) related progressive myoclonus ataxia | Progressive myoclonus epilepsy type 6 | PME (progressive myoclonic epilepsy) type 6 | GOSR2-related progressive myoclonus ataxia | UMLS ID:C5190805 | progressive myoclonic epilepsy type 6 | OMIM ID:614018 | SNOMEDCT ID:783062001 | North Sea progressive myoclonus epilepsy | Progressive myoclonic epilepsy type 6 (disorder) | MONDO:0013526 +BMGC_DS17619,BMG_DS067577,Autosomal recessive optic atrophy type 7 (disorder) | Autosomal recessive optic atrophy OPA7 (optic atrophy type 7) | Autosomal recessive optic atrophy OPA7 type | SNOMEDCT ID:783065004 | Autosomal recessive optic atrophy type 7 | UMLS ID:C5190807 +BMGC_DS17620,BMG_DS067578,"Macrocephaly, intellectual disability, autism syndrome (disorder) | SNOMEDCT ID:783089006 | UMLS ID:C5190809 | Macrocephaly, intellectual disability, autism syndrome" +BMGC_DS17621,BMG_DS067579,"SNOMEDCT ID:783091003 | 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder) | UMLS ID:C5190810 | 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome" +BMGC_DS17622,BMG_DS067580,"46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency | XY sex reversal adrenal failure | SNOMEDCT ID:783092005 | 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency | 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | UMLS ID:C5190811" +BMGC_DS17623,BMG_DS067582,UMLS ID:C5190814 | SNOMEDCT ID:783098009 | Short stature due to partial growth hormone receptor deficiency (disorder) | Short stature due to partial GHR (growth hormone receptor) deficiency | Short stature due to partial growth hormone receptor deficiency +BMGC_DS17624,BMG_DS067583,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (disorder) | UMLS ID:C5190822 | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | SNOMEDCT ID:783136007 +BMGC_DS17625,BMG_DS067586,Progressive myoclonic epilepsy type 8 | MONDO:0014545 | Progressive myoclonus epilepsy type 8 | PME (progressive myoclonic epilepsy) type 8 | progressive myoclonic epilepsy type 8 | UMLS ID:C5190825 | Progressive myoclonic epilepsy due to ceramide synthase 1 deficiency | SNOMEDCT ID:783139000 | Progressive myoclonic epilepsy due to CERS1 (ceramide synthase 1) deficiency | OMIM ID:616230 | Progressive myoclonic epilepsy type 8 (disorder) +BMGC_DS17626,BMG_DS067587,Pancytopenia due to IKZF1 mutations | Combined immunodeficiency due to IKAROS deficiency | UMLS ID:C5190826 | SNOMEDCT ID:783142006 | Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder) | Pancytopenia due to IKAROS family zinc finger 1 mutations +BMGC_DS17627,BMG_DS067588,Distal nebulin myopathy (disorder) | Distal nebulin myopathy | MONDO:0018371 | Nebulin-related early-onset distal myopathy | UMLS ID:C5190827 | nebulin-related early-onset distal myopathy | SNOMEDCT ID:783148005 +BMGC_DS17628,BMG_DS067594,UMLS ID:C5190835 | Familial British dementia with amyloid angiopathy | Familial dementia British type (disorder) | MONDO:0008306 | ABri amyloidosis | OMIM ID:176500 | SNOMEDCT ID:783161005 | Familial dementia British type +BMGC_DS17629,BMG_DS067597,UMLS ID:C5190846 | SNOMEDCT ID:783174004 | Congenital muscular dystrophy with intellectual disability | Congenital muscular dystrophy with intellectual disability (disorder) | congenital muscular dystrophy with intellectual disability | MONDO:0018278 +BMGC_DS17630,BMG_DS067598,Congenital muscular dystrophy without intellectual disability (disorder) | UMLS ID:C5190847 | SNOMEDCT ID:783175003 | MONDO:1040033 | congenital muscular dystrophy without intellectual disability | Congenital muscular dystrophy without intellectual disability +BMGC_DS17631,BMG_DS067599,Congenital muscular dystrophy with cerebellar involvement (disorder) | UMLS ID:C5190848 | SNOMEDCT ID:783176002 | Congenital muscular dystrophy with cerebellar involvement +BMGC_DS17632,BMG_DS067604,Chronic respiratory distress with surfactant metabolism deficiency | MONDO:0016323 | SNOMEDCT ID:783182004 | Chronic respiratory distress with surfactant metabolism deficiency (disorder) | UMLS ID:C5190853 | chronic respiratory distress with surfactant metabolism deficiency +BMGC_DS17633,BMG_DS067609,UMLS ID:C5190860 | Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation (disorder) | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | SNOMEDCT ID:783198006 | 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 +BMGC_DS17634,BMG_DS067610,Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | SNOMEDCT ID:783199003 | 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 (disorder) | Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency +BMGC_DS17635,BMG_DS067611,MONDO:0018487 | Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency | Autosomal recessive severe congenital neutropenia due to CXCR2 (C-X-C motif chemokine receptor 2) deficiency | Autosomal recessive severe congenital neutropenia due to CXCR2 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) | UMLS ID:C5190862 | SNOMEDCT ID:783200000 +BMGC_DS17636,BMG_DS067612,UMLS ID:C5190863 | Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder) | 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 CSF3R (colony stimulating factor 3 receptor) deficiency | SNOMEDCT ID:783201001 +BMGC_DS17637,BMG_DS067613,Autosomal dominant secondary polycythemia | Autosomal dominant secondary erythrocytosis | UMLS ID:C5190864 | SNOMEDCT ID:783202008 | Autosomal dominant secondary polycythaemia | Autosomal dominant secondary polycythemia (disorder) +BMGC_DS17638,BMG_DS067619,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (disorder) | UMLS ID:C5190882 | SNOMEDCT ID:783245001 | Primary immunodeficiency with post-MMR (measles-mumps-rubella) vaccine viral infection +BMGC_DS17639,BMG_DS067620,"Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | MONDO:0016559 | Megalocornea, spherophakia, secondary glaucoma syndrome | glaucoma secondary to spherophakia/ectopia lentis and megalocornea | UMLS ID:C5190883 | SNOMEDCT ID:783246000" +BMGC_DS17640,BMG_DS067623,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 | UMLS ID:C5190887 +BMGC_DS17641,BMG_DS067625,Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome | SNOMEDCT ID:783254003 | Hereditary persistence of fetal haemoglobin with sickle cell disease syndrome | MONDO:0016672 | Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome (disorder) | hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | UMLS ID:C5190890 +BMGC_DS17642,BMG_DS067626,UMLS ID:C5190891 | Hereditary isolated aplastic anaemia | Hereditary isolated aplastic anemia | Hereditary isolated aplastic anemia (disorder) | SNOMEDCT ID:783255002 +BMGC_DS17643,BMG_DS067628,Obesity due to CEP19 deficiency | Obesity due to centrosomal protein 19 deficiency | UMLS ID:C5190985 | SNOMEDCT ID:783549006 | Obesity due to centrosomal protein 19 deficiency (disorder) +BMGC_DS17644,BMG_DS067629,"UMLS ID:C5190986 | Ichthyosis, short stature, brachydactyly, microspherophakia syndrome | 15q26.3 microdeletion syndrome | Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder) | SNOMEDCT ID:783551005" +BMGC_DS17645,BMG_DS067630,SNOMEDCT ID:783554002 | LGMD2U - autosomal recessive limb girdle muscular dystrophy type 2U | UMLS ID:C5190987 | autosomal recessive limb-girdle muscular dystrophy type 2U | OMIM ID:616052 | Autosomal recessive limb girdle muscular dystrophy type 2U (disorder) | Autosomal recessive limb girdle muscular dystrophy type 2U | Autosomal recessive limb girdle muscular dystrophy due to ISPD deficiency | MONDO:0014474 +BMGC_DS17646,BMG_DS067632,UMLS ID:C5190989 | SNOMEDCT ID:783556000 | 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 (disorder) | Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency | MONDO:0017994 | Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency +BMGC_DS17647,BMG_DS067633,SNOMEDCT ID:783558004 | COXPD11 - combined oxidative phosphorylation defect type 11 | Combined oxidative phosphorylation defect type 11 | UMLS ID:C5190991 | OMIM ID:614922 | combined oxidative phosphorylation defect type 11 | Combined oxidative phosphorylation defect type 11 (disorder) | MONDO:0013969 +BMGC_DS17648,BMG_DS067638,Familial steroid-resistant nephrotic syndrome with sensorineural deafness | SNOMEDCT ID:783614008 | UMLS ID:C5191003 | Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) +BMGC_DS17649,BMG_DS067640,SNOMEDCT ID:783616005 | FPLD4 - familial partial lipodystrophy type 4 | PLIN1-related familial partial lipodystrophy | UMLS ID:C5191005 | MONDO:0013478 | OMIM ID:613877 | Perilipin 1 related familial partial lipodystrophy | Perilipin 1 related familial partial lipodystrophy (disorder) +BMGC_DS17650,BMG_DS067641,SNOMEDCT ID:783617001 | UMLS ID:C5191006 | Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder) | Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency | Severe combined immunodeficiency due to LCK deficiency | Severe combined immunodeficiency due to LCK (lymphocyte-specific protein-tyrosine kinase) deficiency +BMGC_DS17651,BMG_DS067642,UMLS ID:C5191007 | Lower motor neuron syndrome with late-adult onset | SNOMEDCT ID:783618006 | Lower motor neuron syndrome with late-adult onset (disorder) +BMGC_DS17652,BMG_DS067643,UMLS ID:C5191008 | 21q22.13q22.2 microdeletion syndrome | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | MONDO:0017056 | Monosomy 21q22.13q22.2 | 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 (disorder) | SNOMEDCT ID:783619003 +BMGC_DS17653,BMG_DS067644,Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis (disorder) | Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis | Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis | SNOMEDCT ID:783620009 | UMLS ID:C5191009 +BMGC_DS17654,BMG_DS067645,Immunodeficiency with factor I anomaly (disorder) | UMLS ID:C5191010 | Immunodeficiency with factor I anomaly | SNOMEDCT ID:783621008 | Complete factor I deficiency +BMGC_DS17655,BMG_DS067648,X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations (disorder) | UMLS ID:C5191041 | SNOMEDCT ID:783702009 | X-linked intellectual disability due to GRIA3 mutations | X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations +BMGC_DS17656,BMG_DS067651,Obesity due to SIM bHLH transcription factor 1 deficiency | MONDO:0018244 | Obesity due to SIM1 deficiency | obesity due to SIM1 deficiency | SNOMEDCT ID:783719006 | UMLS ID:C5191050 | Obesity due to SIM bHLH transcription factor 1 deficiency (disorder) +BMGC_DS17657,BMG_DS067655,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency | SNOMEDCT ID:783734000 | MONDO:0009636 | OMIM ID:251880 | UMLS ID:C5191055 | mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder)" +BMGC_DS17658,BMG_DS067658,"Hirschsprung disease, ganglioneuroblastoma syndrome | Hirschsprung disease-ganglioneuroblastoma syndrome | UMLS ID:C5191058 | MONDO:0013082 | SNOMEDCT ID:783737007 | Hirschsprung disease, ganglioneuroblastoma syndrome (disorder)" +BMGC_DS17659,BMG_DS067659,"Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | UMLS ID:C5191059 | Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form | Hyperinsulinemic hypoglycaemia due to SUR1 deficiency, diazoxide-resistant focal form | diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | MONDO:0017187 | Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency | SNOMEDCT ID:783740007" +BMGC_DS17660,BMG_DS067660,"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (disorder) | Hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency, diazoxide-resistant focal form | SNOMEDCT ID:783741006 | Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | MONDO:0017188 | UMLS ID:C5191060" +BMGC_DS17661,BMG_DS067661,Combined immunodeficiency due to RAG 1/2 deficiency | Combined immunodeficiency with granulomatosis | Combined immunodeficiency due to RAG 1/2 (recombination activating gene 1/2) deficiency | Combined immunodeficiency with granulomatosis (disorder) | UMLS ID:C5191061 | SNOMEDCT ID:783743009 +BMGC_DS17662,BMG_DS067662,Autosomal recessive secondary polycythaemia not associated with VHL (Von Hippel Lindau) gene | Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene (disorder) | UMLS ID:C5191076 | Autosomal recessive secondary polycythaemia not associated with Von Hippel Lindau gene | SNOMEDCT ID:783766005 | Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene | Autosomal recessive secondary erythrocytosis non-Chuvash type | Autosomal recessive secondary polycythaemia non-Chuvash type | Autosomal recessive secondary polycythemia non-Chuvash type | Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene +BMGC_DS17663,BMG_DS067663,Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency | UMLS ID:C5191077 | Autosomal recessive hyperinsulinism due to SUR1 deficiency | SNOMEDCT ID:783767001 | MONDO:0019333 | Autosomal recessive hyperinsulinemic hypoglycaemia due to SUR1 deficiency | Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | autosomal recessive hyperinsulinism due to SUR1 deficiency | Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency +BMGC_DS17664,BMG_DS067664,UMLS ID:C5191078 | Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency | MONDO:0019334 | Autosomal recessive hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | SNOMEDCT ID:783768006 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (disorder) | autosomal recessive hyperinsulinism due to Kir6.2 deficiency +BMGC_DS17665,BMG_DS067665,Alpha-B crystallin-related late-onset myopathy | SNOMEDCT ID:783770002 | Alpha-B crystallin-related late-onset myopathy (disorder) | Late-onset distal crystallinopathy | UMLS ID:C5191079 | Alpha-B crystallin-related late-onset distal myopathy +BMGC_DS17666,BMG_DS067670,SNOMEDCT ID:784340000 | Combined immunodeficiency due to IL21R deficiency | Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder) | Combined immunodeficiency due to interleukin 21 receptor deficiency | UMLS ID:C5191307 +BMGC_DS17667,BMG_DS067671,Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder) | UMLS ID:C5191309 | SNOMEDCT ID:784344009 +BMGC_DS17668,BMG_DS067672,Familial congenital mirror movements | Hereditary congenital controlateral synkinesia | Isolated congenital mirror movements | Familial congenital mirror movements (disorder) | UMLS ID:C5191311 | SNOMEDCT ID:784348007 | Familial congenital controlateral synkinesia | Hereditary congenital mirror movements | Isolated congenital controlateral synkinesia +BMGC_DS17669,BMG_DS067674,Infantile reversible cytochrome C oxidase deficiency myopathy | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | Mitochondrial myopathy with reversible COX (cytochrome C oxidase) deficiency | Reversible infantile cytochrome C oxidase deficiency | Reversible infantile respiratory chain deficiency | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) | SNOMEDCT ID:784370005 | Benign COX (cytochrome C oxidase) deficiency | Mitochondrial myopathy with reversible complex IV deficiency | UMLS ID:C5191317 +BMGC_DS17670,BMG_DS067675,SNOMEDCT ID:784372002 | Familial mesial temporal lobe epilepsy with febrile seizures (disorder) | Familial mesial temporal lobe epilepsy with febrile seizures | UMLS ID:C5191318 +BMGC_DS17671,BMG_DS067683,Muscle eye brain disease with bilateral multicystic leukodystrophy | Muscle eye brain disease with bilateral multicystic leucodystrophy | UMLS ID:C5191414 | SNOMEDCT ID:785298001 | Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder) | muscle-eye-brain disease with bilateral multicystic leucodystrophy | MONDO:0018280 +BMGC_DS17672,BMG_DS067684,"SNOMEDCT ID:785303004 | Multiple congenital anomalies, hypotonia, seizures syndrome | MONDO:0100247 | PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation | Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency | UMLS ID:C5191419 | multiple congenital anomalies-hypotonia-seizures syndrome" +BMGC_DS17673,BMG_DS067690,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,"PASH (pyoderma gangrenosum, acne, suppurative hidradenitis) syndrome | PASH syndrome | Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome (disorder) | pyoderma gangrenosum-acne-suppurative hidradenitis syndrome | Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome | SNOMEDCT ID:785724007 | UMLS ID:C5191642 | MONDO:0017332" +BMGC_DS17675,BMG_DS067693,Hyperekplexia epilepsy syndrome (disorder) | Hyperekplexia epilepsy syndrome | SNOMEDCT ID:785726009 | UMLS ID:C5191643 +BMGC_DS17676,BMG_DS067694,SNOMEDCT ID:785727000 | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity | UMLS ID:C5191644 | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity +BMGC_DS17677,BMG_DS067703,synucleinopathy | UMLS ID:C5191670 | MONDO:0000510 | MeSH ID:D000080874 | Synucleinopathies +BMGC_DS17678,BMG_DS067762,MONDO:0017895 | familial papillary or follicular thyroid carcinoma | UMLS ID:C5191836 +BMGC_DS17679,BMG_DS067813,"Developmental delay, facial dysmorphism syndrome due to MED13L deficiency | SNOMEDCT ID:787093004 | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | UMLS ID:C5192431 | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency" +BMGC_DS17680,BMG_DS067834,21q22.11q22.12 microdeletion syndrome (disorder) | UMLS ID:C5192593 | MONDO:0016845 | SNOMEDCT ID:787171006 | 21q22.11q22.12 microdeletion syndrome | Monosomy 21q22.11q22.12 +BMGC_DS17681,BMG_DS067835,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) | SNOMEDCT ID:787172004 | childhood-onset autosomal recessive myopathy with external ophthalmoplegia | UMLS ID:C5192594 | MONDO:0018206 | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia +BMGC_DS17682,BMG_DS067836,"Intellectual disability, hyperkinetic movement, truncal ataxia syndrome | UMLS ID:C5192595 | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | SNOMEDCT ID:787174003 | MONDO:0018243 | intellectual disability-hyperkinetic movement-truncal ataxia syndrome" +BMGC_DS17683,BMG_DS067837,"UMLS ID:C5192596 | Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) | SNOMEDCT ID:787175002 | Ankyrin 3 related intellectual disability, sleep disturbance syndrome | ANK3-related intellectual disability, sleep disturbance syndrome" +BMGC_DS17684,BMG_DS067843,HMPS - hereditary mixed polyposis syndrome | Hereditary mixed polyposis syndrome | Hereditary mixed polyposis syndrome (disorder) | SNOMEDCT ID:787410005 | hereditary mixed polyposis syndrome | MONDO:0011023 | UMLS ID:C5192681 +BMGC_DS17685,BMG_DS067857,Mitochondrial DNA deletion syndrome with progressive myopathy | SNOMEDCT ID:783057002 | UMLS ID:C5192959 | DNA2-related mitochondrial DNA deletion syndrome | DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder) | Mitochondrial DNA deletion syndrome with limb-girdle weakness | DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome +BMGC_DS17686,BMG_DS067858,"MONDO:0800200 | OMIM ID:190990 | arthrogryposis, distal, type 2B4 | OMIM ID:108120 | UMLS ID:C5193002 | ARTHROGRYPOSIS, DISTAL, TYPE 2B4" +BMGC_DS17687,BMG_DS067859,CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA | calvarial doughnut lesions with bone fragility | OMIM ID:611574 | MONDO:0800204 | calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | UMLS ID:C5193004 | OMIM ID:126550 | DOID:0080721 +BMGC_DS17688,BMG_DS067860,"OMIM ID:173490 | GIST-PLUS SYNDROME | polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | MONDO:0008285 | OMIM ID:175510 | UMLS ID:C5193005" +BMGC_DS17689,BMG_DS067861,UMLS ID:C5193006 | lactic aciduria due to D-lactic acid | MONDO:0009505 | OMIM ID:245450 | D-LACTIC ACIDURIA WITH GOUT +BMGC_DS17690,BMG_DS067862,"OMIM ID:251900 | MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY | UMLS ID:C5193007" +BMGC_DS17691,BMG_DS067863,OMIM ID:300826 | Mullegama-Klein-Martinez syndrome | MONDO:0026722 | DOID:0111845 | UMLS ID:C5193008 | OMIM ID:301022 | MULLEGAMA-KLEIN-MARTINEZ SYNDROME +BMGC_DS17692,BMG_DS067864,"X-linked intellectual developmental disorder 108 | DOID:0111844 | OMIM ID:300368 | MONDO:0026723 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 | UMLS ID:C5193009 | intellectual developmental disorder, X-linked 108 | OMIM ID:301024" +BMGC_DS17693,BMG_DS067865,UMLS ID:C5193010 | OMIM ID:301025 | PAGANINI-MIOZZO SYNDROME | OMIM ID:300545 | MONDO:0026724 | Paganini-Miozzo syndrome | DOID:0111843 +BMGC_DS17694,BMG_DS067866,"OMIM ID:301027 | MONDO:0026726 | DOID:0070357 | NEPHROTIC SYNDROME, TYPE 20 | UMLS ID:C5193011 | nephrotic syndrome type 20 | OMIM ID:301028 | nephrotic syndrome, type 20" +BMGC_DS17695,BMG_DS067867,"DOID:0111758 | DEAFNESS, Y-LINKED 2 | UMLS ID:C5193013 | Y-linked deafness 2 | OMIM ID:400033 | deafness, Y-linked 2 | MONDO:0027048 | OMIM ID:400047" +BMGC_DS17696,BMG_DS067868,"ARTHROGRYPOSIS, DISTAL, TYPE 2B1 | OMIM ID:191043 | MONDO:0020820 | distal arthrogryposis type 2B1 | UMLS ID:C5193014 | DOID:0111600 | OMIM ID:601680" +BMGC_DS17697,BMG_DS067869,CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | UMLS ID:C5193016 | MONDO:0012750 | OMIM ID:611890 | lethal arthrogryposis-anterior horn cell disease syndrome | OMIM ID:603371 +BMGC_DS17698,BMG_DS067870,"UMLS ID:C5193017 | OMIM ID:615145 | MICROPHTHALMIA, SYNDROMIC 15 | OMIM ID:610083" +BMGC_DS17699,BMG_DS067871,cone-rod dystrophy and hearing loss 1 | OMIM ID:617236 | OMIM ID:617110 | MONDO:0020778 | CONE-ROD DYSTROPHY AND HEARING LOSS 1 | UMLS ID:C5193018 +BMGC_DS17700,BMG_DS067872,UMLS ID:C5193019 | warburg-cinotti syndrome | OMIM ID:191311 | MONDO:0032579 | WARBURG-CINOTTI SYNDROME | OMIM ID:618175 +BMGC_DS17701,BMG_DS067873,DIAMOND-BLACKFAN ANEMIA 18 | OMIM ID:604179 | UMLS ID:C5193020 | OMIM ID:618310 | DOID:0111896 | MONDO:0032668 | Diamond-Blackfan anemia 18 +BMGC_DS17702,BMG_DS067874,MONDO:0032669 | OMIM ID:618315 | Diamond-Blackfan anemia 19 | DIAMOND-BLACKFAN ANEMIA 19 | DOID:0111886 | OMIM ID:618312 | UMLS ID:C5193021 +BMGC_DS17703,BMG_DS067875,DIAMOND-BLACKFAN ANEMIA 20 | DOID:0111891 | UMLS ID:C5193022 | Diamond-Blackfan anemia 20 | OMIM ID:618313 | MONDO:0032670 | OMIM ID:603674 +BMGC_DS17704,BMG_DS067876,"HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 2 | hypomagnesemia, seizures, and intellectual disability 2 | OMIM ID:618314 | UMLS ID:C5193023 | OMIM ID:182310 | MONDO:0020788" +BMGC_DS17705,BMG_DS067877,"UMLS ID:C5193024 | intellectual developmental disorder with cardiac defects and dysmorphic facies | MONDO:0032672 | OMIM ID:618316 | TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome | 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) | SNOMEDCT ID:1222708006" +BMGC_DS17706,BMG_DS067878,"basal ganglia calcification, idiopathic, 7, autosomal recessive | OMIM ID:618317 | MONDO:0032673 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE | OMIM ID:618255 | UMLS ID:C5193025" +BMGC_DS17707,BMG_DS067879,UMLS ID:C5193026 | OMIM ID:618321 | CARKD deficiency | NAD(P)HX dehydratase deficiency | MONDO:0034121 | NAD(P)HX dehydratase deficiency (disorder) | SNOMEDCT ID:1251446004 +BMGC_DS17708,BMG_DS067880,"UMLS ID:C5193027 | MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC | MONDO:0032675 | OMIM ID:185880 | myasthenic syndrome, congenital, 25, presynaptic | OMIM ID:618323" +BMGC_DS17709,BMG_DS067881,OMIM ID:618324 | congenital disorder of glycosylation with defective fucosylation 2 | CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 | UMLS ID:C5193028 | MONDO:0020777 | OMIM ID:608675 +BMGC_DS17710,BMG_DS067882,OMIM ID:618325 | MONDO:0032677 | lissencephaly 9 with complex brainstem malformation | UMLS ID:C5193029 | OMIM ID:608271 | LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION | DOID:0112228 +BMGC_DS17711,BMG_DS067883,"OMIM ID:618328 | UMLS ID:C5193030 | Neonatal epileptic encephalopathy due to glutaminase deficiency | developmental and epileptic encephalopathy, 71 | SNOMEDCT ID:1222662000 | Neonatal epileptic encephalopathy due to deficiency of glutaminase | Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder) | MONDO:0032678" +BMGC_DS17712,BMG_DS067884,DOID:0111499 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 | UMLS ID:C5193031 | OMIM ID:618329 | MONDO:0032679 | OMIM ID:616658 | combined oxidative phosphorylation deficiency 37 +BMGC_DS17713,BMG_DS067885,global developmental delay with or without impaired intellectual development | MONDO:0032680 | GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | UMLS ID:C5193032 | OMIM ID:618330 +BMGC_DS17714,BMG_DS067886,"encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | UMLS ID:C5193033 | OMIM ID:618331 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS | OMIM ID:610970 | MONDO:0032681" +BMGC_DS17715,BMG_DS067887,UMLS ID:C5193034 | OMIM ID:618332 | Menke-Hennekam syndrome 1 | MENKE-HENNEKAM SYNDROME 1 | MONDO:0020763 | OMIM ID:600140 +BMGC_DS17716,BMG_DS067888,MENKE-HENNEKAM SYNDROME 2 | OMIM ID:602700 | Menke-Hennekam syndrome 2 | OMIM ID:618333 | MONDO:0020769 | UMLS ID:C5193035 +BMGC_DS17717,BMG_DS067889,"OMIM ID:618336 | OMIM ID:174762 | MONDO:0032684 | intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY | UMLS ID:C5193036" +BMGC_DS17718,BMG_DS067890,"INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | UMLS ID:C5193037 | OMIM ID:618339 | MONDO:0032685 | infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | OMIM ID:138280" +BMGC_DS17719,BMG_DS067891,OMIM ID:618304 | OMIM ID:618341 | SPERMATOGENIC FAILURE 35 | spermatogenic failure 35 | UMLS ID:C5193038 | DOID:0111914 | MONDO:0032686 +BMGC_DS17720,BMG_DS067892,"MONDO:0032687 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE | UMLS ID:C5193039 | OMIM ID:618342 | OMIM ID:616261 | intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | DOID:0081265" +BMGC_DS17721,BMG_DS067893,OMIM ID:618343 | polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | MONDO:0032688 | UMLS ID:C5193040 | POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME +BMGC_DS17722,BMG_DS067894,DOID:0112142 | OMIM ID:600253 | retinitis pigmentosa 85 | OMIM ID:618345 | UMLS ID:C5193041 | MONDO:0032689 | RETINITIS PIGMENTOSA 85 +BMGC_DS17723,BMG_DS067895,"OMIM ID:605924 | microcephaly, growth deficiency, seizures, and brain malformations | MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS | UMLS ID:C5193042 | OMIM ID:618346 | DOID:0081051 | MONDO:0032690" +BMGC_DS17724,BMG_DS067896,OMIM ID:618347 | OMIM ID:605924 | UMLS ID:C5193043 | MONDO:0032691 | Galloway-Mowat syndrome 6 | GALLOWAY-MOWAT SYNDROME 6 +BMGC_DS17725,BMG_DS067897,OMIM ID:607617 | Galloway-Mowat syndrome 7 | GALLOWAY-MOWAT SYNDROME 7 | OMIM ID:618348 | UMLS ID:C5193044 | MONDO:0032692 +BMGC_DS17726,BMG_DS067898,OMIM ID:618349 | Galloway-Mowat syndrome 8 | UMLS ID:C5193045 | MONDO:0032693 | GALLOWAY-MOWAT SYNDROME 8 | OMIM ID:607613 +BMGC_DS17727,BMG_DS067899,"OMIM ID:618351 | MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 25, primary, autosomal recessive | MONDO:0032694 | OMIM ID:618350 | UMLS ID:C5193046" +BMGC_DS17728,BMG_DS067900,oocyte maturation defect 6 | OMIM ID:618353 | MONDO:0032696 | OMIM ID:182888 | UMLS ID:C5193047 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 6 +BMGC_DS17729,BMG_DS067901,HOUGE-JANSSENS SYNDROME 3 | Houge-Janssens syndrome 3 | MONDO:0032697 | UMLS ID:C5193048 | OMIM ID:618354 | OMIM ID:176915 +BMGC_DS17730,BMG_DS067902,UMLS ID:C5193049 | OMIM ID:618356 | neurodevelopmental disorder with central and peripheral motor dysfunction | OMIM ID:609145 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION | MONDO:0032698 +BMGC_DS17731,BMG_DS067903,"epilepsy, idiopathic generalized, susceptibility to, 15 | UMLS ID:C5193050 | MONDO:0032699 | OMIM ID:618357" +BMGC_DS17732,BMG_DS067904,cone-rod dystrophy and hearing loss 2 | CONE-ROD DYSTROPHY AND HEARING LOSS 2 | OMIM ID:618358 | OMIM ID:609689 | MONDO:0020780 | UMLS ID:C5193051 +BMGC_DS17733,BMG_DS067905,OMIM ID:618360 | DOID:0112315 | BRAIN SMALL VESSEL DISEASE 3 | UMLS ID:C5193053 | MONDO:0100105 | OMIM ID:617531 | brain small vessel disease 3 +BMGC_DS17734,BMG_DS067906,OMIM ID:618362 | Coffin-Siris syndrome 8 | MONDO:0032702 | COFFIN-SIRIS SYNDROME 8 | UMLS ID:C5193054 | DOID:0112367 | OMIM ID:601734 +BMGC_DS17735,BMG_DS067907,"short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | OMIM ID:618363 | SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS | MONDO:0032703 | OMIM ID:611459 | UMLS ID:C5193055" +BMGC_DS17736,BMG_DS067908,"UMLS ID:C5193056 | OMIM ID:600702 | OMIM ID:618364 | myoclonus, familial, 2 | MYOCLONUS, FAMILIAL, 2 | MONDO:0100092" +BMGC_DS17737,BMG_DS067909,"Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome | Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome (disorder) | UMLS ID:C5193057 | MTHFS (methenyltetrahydrofolate synthetase) related developmental delay, microcephaly, short stature, epilepsy syndrome | OMIM ID:618367 | MONDO:0032705 | SNOMEDCT ID:1300128003 | MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome | neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" +BMGC_DS17738,BMG_DS067910,"DOID:0111616 | autosomal recessive spinocerebellar ataxia 27 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 | spinocerebellar ataxia, autosomal recessive 27 | OMIM ID:618369 | MONDO:0032706 | OMIM ID:618128 | UMLS ID:C5193058" +BMGC_DS17739,BMG_DS067911,OMIM ID:618371 | UMLS ID:C5193060 | MONDO:0032707 | turnpenny-fry syndrome | TURNPENNY-FRY SYNDROME | OMIM ID:600346 +BMGC_DS17740,BMG_DS067912,"UMLS ID:C5193062 | CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA | OMIM ID:618373 | OMIM ID:607955" +BMGC_DS17741,BMG_DS067913,"OMIM ID:601725 | UMLS ID:C5193063 | MONDO:0032710 | developmental and epileptic encephalopathy 72 | developmental and epileptic encephalopathy, 72 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72 | OMIM ID:618374 | DOID:0112208" +BMGC_DS17742,BMG_DS067914,OMIM ID:611978 | DOID:0111466 | combined oxidative phosphorylation deficiency 38 | UMLS ID:C5193064 | OMIM ID:618378 | MONDO:0032712 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 +BMGC_DS17743,BMG_DS067915,"RNF13-related severe early-onset epileptic encephalopathy | Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | UMLS ID:C5193065 | OMIM ID:618379 | SNOMEDCT ID:1222659003 | Ring finger protein 13-related severe early-onset epileptic encephalopathy | MONDO:0034106 | developmental and epileptic encephalopathy, 73" +BMGC_DS17744,BMG_DS067916,"OMIM ID:618381 | FHEIG syndrome | Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) | facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | UMLS ID:C5193066 | MONDO:0032714 | SNOMEDCT ID:1304114004 | FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth) syndrome | Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome" +BMGC_DS17745,BMG_DS067917,"intellectual developmental disorder, autosomal recessive 69 | DOID:0081230 | MONDO:0032715 | OMIM ID:618383 | OMIM ID:618181 | autosomal recessive intellectual developmental disorder 69 | UMLS ID:C5193067 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69" +BMGC_DS17746,BMG_DS067918,"Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) | UMLS ID:C5193068 | Acute reversible leukoencephalopathy due to SLC13A3 deficiency | Acute reversible leucoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency | MONDO:0032716 | leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | Acute reversible leucoencephalopathy with increased urinary alpha-ketoglutarate | Acute reversible leucoencephalopathy due to SLC13A3 deficiency | OMIM ID:618384 | SNOMEDCT ID:1340040004" +BMGC_DS17747,BMG_DS067919,"DOID:0111722 | MONDO:0032717 | AMELOGENESIS IMPERFECTA, TYPE IIIC | UMLS ID:C5193069 | OMIM ID:611211 | OMIM ID:618386 | amelogenesis imperfecta, type 3C | amelogenesis imperfecta type 3C" +BMGC_DS17748,BMG_DS067920,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 | spinocerebellar ataxia with axonal neuropathy type 3 | OMIM ID:618387 | spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | DOID:0070465 | OMIM ID:615623 | UMLS ID:C5193070 | MONDO:0020770" +BMGC_DS17749,BMG_DS067921,"spondyloepiphyseal dysplasia, kondo-fu type | SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE | OMIM ID:618392 | OMIM ID:603355 | DOID:0112283 | UMLS ID:C5193071 | MONDO:0032721 | spondyloepiphyseal dysplasia Kondo-Fu type" +BMGC_DS17750,BMG_DS067922,UMLS ID:C5193072 | immunodeficiency 60 | OMIM ID:618394 | MONDO:0032723 | OMIM ID:605394 | DOID:0111954 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY +BMGC_DS17751,BMG_DS067923,"SEMDJL3 - 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 | spondyloepimetaphyseal dysplasia with joint laxity, type 3 | SNOMEDCT ID:1286834000 | MONDO:0032724 | Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type | Spondyloepimetaphyseal dysplasia with joint laxity type 3 | OMIM ID:618395 | UMLS ID:C5193073" +BMGC_DS17752,BMG_DS067924,"OMIM ID:137164 | OMIM ID:618396 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 | developmental and epileptic encephalopathy 74 | DOID:0112210 | MONDO:0032725 | UMLS ID:C5193074 | developmental and epileptic encephalopathy, 74" +BMGC_DS17753,BMG_DS067925,GFM2-related combined oxidative phosphorylation defect | combined oxidative phosphorylation deficiency 39 | MONDO:0032726 | Combined oxidative phosphorylation defect type 39 | UMLS ID:C5193075 | COXPD39 - combined oxidative phosphorylation defect type 39 | GTP dependent ribosome recycling factor mitochondrial 2-related combined oxidative phosphorylation defect | OMIM ID:618397 | Combined oxidative phosphorylation defect type 39 (disorder) | SNOMEDCT ID:1279845005 +BMGC_DS17754,BMG_DS067926,"OMIM ID:137960 | DOID:0111559 | UMLS ID:C5193076 | Charcot-Marie-Tooth disease, axonal, type 2EE | Charcot-Marie-Tooth disease type 2EE | OMIM ID:618400 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE | MONDO:0032728" +BMGC_DS17755,BMG_DS067927,"intellectual developmental disorder, autosomal recessive 70 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 | autosomal recessive intellectual developmental disorder 70 | MONDO:0032729 | DOID:0081231 | OMIM ID:613352 | OMIM ID:618402 | UMLS ID:C5193077" +BMGC_DS17756,BMG_DS067928,"LEUKODYSTROPHY, HYPOMYELINATING, 18 | UMLS ID:C5193078 | DOID:0070399 | OMIM ID:615843 | OMIM ID:618404 | hypomyelinating leukodystrophy 18 | MONDO:0032730 | leukodystrophy, hypomyelinating, 18" +BMGC_DS17757,BMG_DS067929,"hearing loss, autosomal recessive 113 | OMIM ID:614591 | DEAFNESS, AUTOSOMAL RECESSIVE 113 | OMIM ID:618410 | autosomal recessive nonsyndromic deafness 113 | DOID:0111636 | MONDO:0032732 | UMLS ID:C5193079" +BMGC_DS17758,BMG_DS067930,"OMIM ID:618412 | GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE | UMLS ID:C5193080 | global developmental delay, progressive ataxia, and elevated glutamine | OMIM ID:138280 | MONDO:0032733" +BMGC_DS17759,BMG_DS067931,SNOMEDCT ID:1255274002 | Congenital myopathy with reduced type 2 muscle fibers | MONDO:0034109 | Congenital myopathy with type 2 muscle fibre atrophy | congenital myopathy with reduced type 2 muscle fibers | Congenital myopathy with fast-twitch fibre atrophy | Congenital myopathy with type II fibre atrophy | Congenital myopathy with reduced type II muscle fibres | UMLS ID:C5193081 | Congenital myopathy with type II fiber atrophy | Congenital myopathy with reduced type II muscle fibers | OMIM ID:618414 | Congenital myopathy with fast-twitch fiber atrophy | Congenital myopathy with type 2 muscle fiber atrophy | Congenital myopathy with reduced type 2 muscle fibres | Congenital myopathy with reduced type 2 muscle fibers (disorder) +BMGC_DS17760,BMG_DS067932,OMIM ID:618415 | MONDO:0032735 | UMLS ID:C5193082 | DOID:0070354 | OMIM ID:611282 | cataract 48 | CATARACT 48 +BMGC_DS17761,BMG_DS067933,"MONDO:0032736 | UMLS ID:C5193083 | OMIM ID:618416 | metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION | OMIM ID:610823" +BMGC_DS17762,BMG_DS067934,"hereditary spastic paraplegia 80 | DOID:0112341 | spastic paraplegia 80, autosomal dominant | SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT | MONDO:0032737 | UMLS ID:C5193084 | OMIM ID:618418 | OMIM ID:609787" +BMGC_DS17763,BMG_DS067935,"gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | OMIM ID:615902 | UMLS ID:C5193085 | OMIM ID:600908 | MYOECTODERMAL GONADAL DYSGENESIS SYNDROME | OMIM ID:618419 | MONDO:0032738" +BMGC_DS17764,BMG_DS067936,UMLS ID:C5193086 | SPERMATOGENIC FAILURE 36 | DOID:0111921 | OMIM ID:615902 | MONDO:0032739 | spermatogenic failure 36 | OMIM ID:618420 +BMGC_DS17765,BMG_DS067937,"MONDO:0032740 | autosomal recessive nonsyndromic deafness 100 | OMIM ID:611648 | DEAFNESS, AUTOSOMAL RECESSIVE 100 | hearing loss, autosomal recessive 100 | DOID:0111638 | OMIM ID:618422 | UMLS ID:C5193087" +BMGC_DS17766,BMG_DS067938,UMLS ID:C5193088 | MONDO:0032741 | OMIM ID:618425 | neurodevelopmental disorder with impaired speech and hyperkinetic movements | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS | OMIM ID:604083 +BMGC_DS17767,BMG_DS067939,"encephalopathy, acute, infection-induced, susceptibility to, 9 | MONDO:0032742 | UMLS ID:C5193089 | OMIM ID:618426" +BMGC_DS17768,BMG_DS067940,OMIM ID:611430 | DOID:0111927 | SPERMATOGENIC FAILURE 37 | UMLS ID:C5193091 | OMIM ID:618429 | MONDO:0032744 | spermatogenic failure 37 +BMGC_DS17769,BMG_DS067941,DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES | OMIM ID:603107 | MONDO:0032745 | OMIM ID:618430 | developmental delay with variable intellectual impairment and behavioral abnormalities | UMLS ID:C5193092 +BMGC_DS17770,BMG_DS067942,"OMIM ID:618431 | hydatidiform mole, recurrent, 3 | OMIM ID:608797 | MONDO:0032746 | HYDATIDIFORM MOLE, RECURRENT, 3 | UMLS ID:C5193093" +BMGC_DS17771,BMG_DS067943,"hydatidiform mole, recurrent, 4 | HYDATIDIFORM MOLE, RECURRENT, 4 | MONDO:0032747 | OMIM ID:616109 | OMIM ID:618432 | UMLS ID:C5193094" +BMGC_DS17772,BMG_DS067944,OMIM ID:618433 | SPERMATOGENIC FAILURE 38 | DOID:0111919 | UMLS ID:C5193095 | MONDO:0032748 | spermatogenic failure 38 | OMIM ID:618424 +BMGC_DS17773,BMG_DS067945,"DEAFNESS, AUTOSOMAL RECESSIVE 94 | MONDO:0032749 | DOID:0111641 | OMIM ID:612803 | OMIM ID:618434 | UMLS ID:C5193096 | hearing loss, autosomal recessive 94 | autosomal recessive nonsyndromic deafness 94" +BMGC_DS17774,BMG_DS067946,"OMIM ID:618435 | UMLS ID:C5193097 | distal arthrogryposis type 2B2 | arthrogryposis, distal, type 2B2 | DOID:0111601 | MONDO:0032750 | OMIM ID:600692 | ARTHROGRYPOSIS, DISTAL, TYPE 2B2" +BMGC_DS17775,BMG_DS067947,"DOID:0111602 | arthrogryposis, distal, type 2B3 | OMIM ID:160720 | ARTHROGRYPOSIS, DISTAL, TYPE 2B3 | UMLS ID:C5193098 | distal arthrogryposis type 2B3 | OMIM ID:618436 | MONDO:0032751" +BMGC_DS17776,BMG_DS067948,"developmental and epileptic encephalopathy 75 | developmental and epileptic encephalopathy, 75 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 | MONDO:0032752 | OMIM ID:612036 | DOID:0112211 | UMLS ID:C5193099 | OMIM ID:618437" +BMGC_DS17777,BMG_DS067949,"spastic ataxia 9, autosomal recessive | MONDO:0032753 | OMIM ID:606988 | OMIM ID:618438 | SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE | UMLS ID:C5193100" +BMGC_DS17778,BMG_DS067950,MONDO:0034145 | SNOMEDCT ID:1255268002 | Oculo-cerebro-dental syndrome | UMLS ID:C5193101 | Oculocerebrodental syndrome | Oculocerebrodental syndrome (disorder) | OMIM ID:618440 | oculocerebrodental syndrome +BMGC_DS17779,BMG_DS067951,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES | UMLS ID:C5193102 | MONDO:0032755 | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | OMIM ID:618443 +BMGC_DS17780,BMG_DS067952,"UMLS ID:C5193103 | DOID:0111858 | MONDO:0032757 | OMIM ID:618449 | primary ciliary dyskinesia 41 | CILIARY DYSKINESIA, PRIMARY, 41 | OMIM ID:611398 | ciliary dyskinesia, primary, 41" +BMGC_DS17781,BMG_DS067953,"OMIM ID:618451 | neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA | UMLS ID:C5193104 | MONDO:0032758" +BMGC_DS17782,BMG_DS067954,OMIM ID:618453 | UMLS ID:C5193105 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES | OMIM ID:609225 | intellectual developmental disorder with short stature and variable skeletal anomalies | MONDO:0032759 +BMGC_DS17783,BMG_DS067955,MONDO:0032760 | DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM | OMIM ID:618454 | developmental delay with or without dysmorphic facies and autism | UMLS ID:C5193106 +BMGC_DS17784,BMG_DS067956,"MONDO:0032761 | OMIM ID:618456 | OMIM ID:604330 | UMLS ID:C5193107 | DEAFNESS, AUTOSOMAL RECESSIVE 114 | autosomal recessive nonsyndromic deafness 114 | DOID:0111642 | hearing loss, autosomal recessive 114" +BMGC_DS17785,BMG_DS067957,"MONDO:0032762 | UMLS ID:C5193108 | hearing loss, autosomal recessive 115 | DEAFNESS, AUTOSOMAL RECESSIVE 115 | OMIM ID:618457 | DOID:0111643 | OMIM ID:612584 | autosomal recessive nonsyndromic deafness 115" +BMGC_DS17786,BMG_DS067958,immunodeficiency 62 | OMIM ID:618459 | OMIM ID:601855 | DOID:0111991 | UMLS ID:C5193109 | MONDO:0032763 | IMMUNODEFICIENCY 62 +BMGC_DS17787,BMG_DS067959,MONDO:0032764 | Khan-Khan-Katsanis syndrome | OMIM ID:608532 | KHAN-KHAN-KATSANIS SYNDROME | UMLS ID:C5193110 | OMIM ID:618460 +BMGC_DS17788,BMG_DS067960,"OMIM ID:600997 | bleeding disorder, platelet-type, 22 | MONDO:0032765 | UMLS ID:C5193111 | BLEEDING DISORDER, PLATELET-TYPE, 22 | OMIM ID:618462" +BMGC_DS17789,BMG_DS067961,PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 6 | paragangliomas 6 | MONDO:0032767 | OMIM ID:618464 | UMLS ID:C5193112 +BMGC_DS17790,BMG_DS067962,"developmental and epileptic encephalopathy, 76 | UMLS ID:C5193113 | DOID:0112212 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 | developmental and epileptic encephalopathy 76 | MONDO:0032768 | OMIM ID:618468" +BMGC_DS17791,BMG_DS067963,"CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B | OMIM ID:618469 | contractures, pterygia, and variable skeletal fusions syndrome 1B | DOID:0081322 | OMIM ID:160720 | UMLS ID:C5193114 | MONDO:0020746" +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 | OMIM ID:618470 | OMIM ID:612458 | MONDO:0032770 +BMGC_DS17793,BMG_DS067965,OMIM ID:618475 | MONDO:0032771 | paragangliomas 7 | OMIM ID:126063 | UMLS ID:C5193116 | PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 7 +BMGC_DS17794,BMG_DS067966,"OMIM ID:618476 | OMIM ID:164770 | BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS | brain abnormalities, neurodegeneration, and dysosteosclerosis | MONDO:0032772 | UMLS ID:C5193117" +BMGC_DS17795,BMG_DS067967,"CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME | cerebellar, ocular, craniofacial, and genital syndrome | OMIM ID:601280 | OMIM ID:618479 | UMLS ID:C5193118 | MONDO:0032774" +BMGC_DS17796,BMG_DS067968,UMLS ID:C5193119 | OMIM ID:600944 | OMIM ID:618480 | MONDO:0032775 | neurodevelopmental disorder with seizures and speech and walking impairment | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT +BMGC_DS17797,BMG_DS067969,"OMIM ID:602780 | OMIM ID:618482 | generalized epilepsy with febrile seizures plus, type 10 | UMLS ID:C5193120 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 | DOID:0111296 | generalized epilepsy with febrile seizures plus 10 | MONDO:0032777" +BMGC_DS17798,BMG_DS067970,"UMLS ID:C5193121 | DOID:0080979 | MONDO:0032778 | arthrogryposis multiplex congenita 3, myogenic type | OMIM ID:608441 | OMIM ID:618484 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE | arthrogryposis multiplex congenita-3" +BMGC_DS17799,BMG_DS067971,neurodevelopmental disorder with microcephaly and structural brain anomalies | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES | OMIM ID:603331 | OMIM ID:618492 | MONDO:0032779 | UMLS ID:C5193123 +BMGC_DS17800,BMG_DS067972,"MONDO:0032780 | UMLS ID:C5193124 | HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES | hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | OMIM ID:618493" +BMGC_DS17801,BMG_DS067973,"congenital hypotonia, epilepsy, developmental delay, and digital anomalies | UMLS ID:C5193125 | OMIM ID:618494 | MONDO:0032781 | CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES | OMIM ID:607462" +BMGC_DS17802,BMG_DS067974,UMLS ID:C5193126 | IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY | OMIM ID:146710 | immunodeficiency 63 with lymphoproliferation and autoimmunity | immunodeficiency 63 | DOID:0111997 | OMIM ID:618495 | MONDO:0032782 +BMGC_DS17803,BMG_DS067975,AORTIC VALVE DISEASE 3 | DOID:0080977 | aortic valve disease 3 | OMIM ID:607528 | OMIM ID:618496 | UMLS ID:C5193127 | MONDO:0032783 +BMGC_DS17804,BMG_DS067976,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS | MONDO:0032784 | OMIM ID:618497 | neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | OMIM ID:601012 | UMLS ID:C5193128 +BMGC_DS17805,BMG_DS067977,"UMLS ID:C5193129 | polydactyly, postaxial, type a10 | OMIM ID:618498 | POLYDACTYLY, POSTAXIAL, TYPE A10 | MONDO:0032785 | OMIM ID:617266" +BMGC_DS17806,BMG_DS067978,OMIM ID:608435 | NOONAN SYNDROME 11 | Noonan syndrome 11 | DOID:0112169 | OMIM ID:618499 | UMLS ID:C5193130 | MONDO:0032786 +BMGC_DS17807,BMG_DS067979,holoprosencephaly 12 | HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS | DOID:0081398 | holoprosencephaly 12 with or without pancreatic agenesis | UMLS ID:C5193131 | MONDO:0032787 | OMIM ID:604917 | OMIM ID:618500 +BMGC_DS17808,BMG_DS067980,CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY | cerebellar atrophy with seizures and variable developmental delay | OMIM ID:618501 | MONDO:0032788 | UMLS ID:C5193132 | OMIM ID:607082 +BMGC_DS17809,BMG_DS067981,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 | UMLS ID:C5193133 | OMIM ID:618504 | MONDO:0032789 | autosomal recessive intellectual developmental disorder 71 | intellectual developmental disorder, autosomal recessive 71 | DOID:0081232 | OMIM ID:613306" +BMGC_DS17810,BMG_DS067982,STOLERMAN NEURODEVELOPMENTAL SYNDROME | OMIM ID:618505 | DOID:0081443 | UMLS ID:C5193134 | OMIM ID:611577 | Stolerman neurodevelopmental syndrome | MONDO:0032790 | neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +BMGC_DS17811,BMG_DS067983,"MONDO:0032792 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY | OMIM ID:618511 | OMIM ID:179020 | neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | UMLS ID:C5193137" +BMGC_DS17812,BMG_DS067984,MONDO:0032793 | UMLS ID:C5193138 | MeSH ID:C000730747 | O'Donnell-Luria-Rodan syndrome | OMIM ID:618512 +BMGC_DS17813,BMG_DS067985,UMLS ID:C5193139 | OMIM ID:618439 | leber congenital amaurosis 19 | OMIM ID:618513 | DOID:0081169 | Leber congenital amaurosis 19 | MONDO:0032794 | LEBER CONGENITAL AMAUROSIS 19 +BMGC_DS17814,BMG_DS067986,"hyper IgE recurrent infection syndrome 4 | OMIM ID:600694 | UMLS ID:C5193141 | OMIM ID:618523 | MONDO:0032796 | HYPER-IgE SYNDROME 4B, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | DOID:0080596 | hyper-IgE recurrent infection syndrome 4, autosomal recessive" +BMGC_DS17815,BMG_DS067987,MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) | MONDO:0032799 | UMLS ID:C5193142 | DOID:0070446 | OMIM ID:618528 | mitochondrial DNA depletion syndrome 16 (hepatic type) | mitochondrial DNA depletion syndrome 16 +BMGC_DS17816,BMG_DS067988,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 | MONDO:0032800 | autosomal recessive Robinow syndrome 2 | DOID:0060974 | OMIM ID:612895 | UMLS ID:C5193143 | OMIM ID:618529 | robinow syndrome, autosomal recessive 2" +BMGC_DS17817,BMG_DS067989,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 | OMIM ID:618531 | erythrokeratodermia variabilis et progressiva 6 | MONDO:0032801 | UMLS ID:C5193144 | DOID:0080766 | OMIM ID:606936 +BMGC_DS17818,BMG_DS067990,"DOID:0111651 | ectodermal dysplasia 15 | UMLS ID:C5193145 | OMIM ID:618535 | OMIM ID:601891 | ectodermal dysplasia 15, hypohidrotic/hair type | MONDO:0032804 | ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE" +BMGC_DS17819,BMG_DS067991,DOID:0111841 | UMLS ID:C5193146 | OMIM ID:301029 | SHUKLA-VERNON SYNDROME | OMIM ID:300688 | Shukla-Vernon syndrome | MONDO:0026727 +BMGC_DS17820,BMG_DS067992,"UMLS ID:C5193147 | OMIM ID:611813 | ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES | OMIM ID:618527 | MONDO:0032798 | ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features" +BMGC_DS17821,BMG_DS067993,UMLS ID:C5193150 | MICROPHTHALMIA AND/OR COLOBOMA WITH DEVELOPMENTAL DELAY | OMIM ID:615145 +BMGC_DS17822,BMG_DS068002,"UMLS ID:C5193190 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 | MONDO:0032795 | OMIM ID:618522 | intellectual developmental disorder 59 | OMIM ID:602123" +BMGC_DS17823,BMG_DS068011,"UMLS ID:C5193222 | OMIM ID:614585 | MITOCHONDRIAL MYOPATHY, EPISODIC, WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY" +BMGC_DS17824,BMG_DS068012,"OMIM ID:614585 | MONDO:0020714 | UMLS ID:C5193223 | mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY | OMIM ID:251900" +BMGC_DS17825,BMG_DS068016,"hydrops fetalis, nonimmune, with gracile bones and dysmorphic features | UMLS ID:C5193233 | MONDO:0013149 | HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHISM | OMIM ID:613124" +BMGC_DS17826,BMG_DS068021,Kelly-Paterson syndrome | microcytic anemia | Plummer-Vinson syndrome | Anaemia - iron defic. | (Anaemia: [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) | OMIM ID:MTHU006439 | Iron deficiency anaemias | MONDO:0001245 | UMLS ID:C5194182 | (Anemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | Microcytic anaemia | Microcytic anemia (disorder) | SNOMEDCT ID:234349007 | Plummer-Vinson syndr. | Iron deficiency anaemia | SNOMEDCT ID:267553005 | Microcytic anemia | Iron deficiency anemia | Kelly-Paterson synd. | Iron deficiency anemias | SNOMEDCT ID:154787005 | Anemia - iron defic. +BMGC_DS17827,BMG_DS068044,UMLS ID:C5197731 | X-Linked Familial Exudative Vitreoretinopathy | Familial Exudative Vitreoretinopathies | MeSH ID:D000080345 +BMGC_DS17828,BMG_DS068047,UMLS ID:C5197805 | Inherited Immunodeficiency Diseases | Primary Immunodeficiency Diseases | MeSH ID:D000081207 +BMGC_DS17829,BMG_DS068050,Dry Eye Syndromes | Evaporative Dry Eye Disease | UMLS ID:C5197850 | MeSH ID:D015352 +BMGC_DS17830,BMG_DS068054,UMLS ID:C5200299 | MeSH ID:C538235 | Adenylosuccinate lyase deficiency type 4 +BMGC_DS17831,BMG_DS068055,MeSH ID:C538235 | Adenylosuccinate lyase deficiency type 3 | UMLS ID:C5200300 +BMGC_DS17832,BMG_DS068056,UMLS ID:C5200301 | MeSH ID:C538235 | Adenylosuccinate lyase deficiency type 2 +BMGC_DS17833,BMG_DS068057,Adenylosuccinate lyase deficiency type 1 | MeSH ID:C538235 | UMLS ID:C5200302 +BMGC_DS17834,BMG_DS068058,Autosomal dominant Robinow syndrome (disorder) | UMLS ID:C5200540 | autosomal dominant Robinow syndrome | SNOMEDCT ID:890233009 | MONDO:0008389 | Autosomal dominant Robinow syndrome +BMGC_DS17835,BMG_DS068065,UMLS ID:C5200782 | Bursitis | MeSH ID:D002062 | Pes Anserine Bursitis +BMGC_DS17836,BMG_DS068069,"SHORT SLEEP, FAMILIAL NATURAL, 1 | OMIM ID:612975 | OMIM ID:606200 | UMLS ID:C5200932" +BMGC_DS17837,BMG_DS068070,MONDO:0000128 | DOID:0090068 | giant axonal neuropathy 1 | MeSH ID:D056768 | UMLS ID:C5200933 | giant axonal neuropathy | Giant Axonal Neuropathy +BMGC_DS17838,BMG_DS068071,macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | OMIM ID:153640 | MONDO:0015912 | OMIM ID:600208 | OMIM ID:605249 | UMLS ID:C5200934 | OMIM ID:155100 +BMGC_DS17839,BMG_DS068078,Total color blindness | SNOMEDCT ID:789675009 | Complete achromatopsia (disorder) | OMIM ID:MTHU013744 | Complete color blindness | Complete colour blindness | UMLS ID:C5201048 | Total colour blindness | Complete achromatopsia | Rod monochromatism +BMGC_DS17840,BMG_DS068080,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 | UMLS ID:C5201145 | OMIM ID:610273 | hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | MONDO:0012465 | OMIM ID:610293 +BMGC_DS17841,BMG_DS068081,OMIM ID:186580 | Blau syndrome | UMLS ID:C5201146 | Blau syndrome (disorder) | ICD10 ID:M04.8 | MONDO:0008523 | SNOMEDCT ID:818950005 | OMIM ID:609464 +BMGC_DS17842,BMG_DS068084,"hypopigmentation, organomegaly, and delayed myelination and development | UMLS ID:C5203300 | OMIM ID:602727 | OMIM ID:618541 | HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT | MONDO:0032805" +BMGC_DS17843,BMG_DS068085,"UMLS ID:C5203349 | MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT | myopathy, distal, 6, adult-onset, autosomal dominant | MONDO:0032853 | OMIM ID:618655 | OMIM ID:102573" +BMGC_DS17844,BMG_DS068086,"MONDO:0016369 | OMIM ID:603780 | ROTHMUND-THOMSON SYNDROME, TYPE 2 | UMLS ID:C5203410 | Rothmund-Thomson syndrome type 2 | OMIM ID:268400" +BMGC_DS17845,BMG_DS068087,"NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT | neutropenia, severe congenital, 8, autosomal dominant | OMIM ID:618752 | DOID:0112135 | MONDO:0032899 | severe congenital neutropenia 8 | UMLS ID:C5203411 | OMIM ID:604857" +BMGC_DS17846,BMG_DS068088,UMLS ID:C5203670 | MONDO:0100096 | DOID:0080600 | COVID-19 | COVID-19 Virus Disease | MeSH ID:D000086382 +BMGC_DS17847,BMG_DS068089,Setleis syndrome | UMLS ID:C5203693 | SNOMEDCT ID:789160000 | Focal facial dermal dysplasia 3 Setleis type | FFDD type 3 - focal facial dermal dysplasia type 3 | Focal facial dermal dysplasia type III (disorder) | Focal facial dermal dysplasia type III +BMGC_DS17848,BMG_DS068188,"UMLS ID:C5229849 | Blepharophimosis, intellectual disability syndrome | blepharophimosis - intellectual disability syndrome | SNOMEDCT ID:788584007 | Blepharophimosis, intellectual disability syndrome (disorder) | MONDO:0017393" +BMGC_DS17849,BMG_DS068269,"Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) | Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | SNOMEDCT ID:789063000 | UMLS ID:C5230308" +BMGC_DS17850,BMG_DS068303,"ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder) | UMLS ID:C5230619 | CLN12 disease | Juvenile parkinsonism, neuronal ceroid lipofuscinosis | SNOMEDCT ID:789657008" +BMGC_DS17851,BMG_DS068334,UMLS ID:C5231006 | SNOMEDCT ID:818959006 | Trichorhinophalangeal syndrome type 1 and 3 | Trichorhinophalangeal syndrome type 1 and 3 (disorder) | Trichorhinophalangeal syndrome type I and III +BMGC_DS17852,BMG_DS068336,MONDO:0019848 | posterior hypospadias | UMLS ID:C5231010 +BMGC_DS17853,BMG_DS068339,Generalized glucocorticoid resistance syndrome (disorder) | Generalized glucocorticoid resistance syndrome | SNOMEDCT ID:819950002 | Generalised glucocorticoid resistance syndrome | UMLS ID:C5231034 +BMGC_DS17854,BMG_DS068347,glossopharyngeal nerve paralysis | Palsy of glossopharyngeal nerve | DOID:3816 | SNOMEDCT ID:827050005 | Ninth cranial nerve palsy | UMLS ID:C5231192 | MONDO:0002781 | Palsy of glossopharyngeal nerve (disorder) +BMGC_DS17855,BMG_DS068349,Autosomal dominant progressive external ophthalmoplegia (disorder) | adPEO - autosomal dominant progressive external ophthalmoplegia | SNOMEDCT ID:827115000 | Autosomal dominant progressive external ophthalmoplegia | MONDO:0008003 | autosomal dominant progressive external ophthalmoplegia | UMLS ID:C5231255 +BMGC_DS17856,BMG_DS068351,X-linked progressive cerebellar ataxia | X-linked progressive cerebellar ataxia (disorder) | SNOMEDCT ID:827172005 | UMLS ID:C5231313 +BMGC_DS17857,BMG_DS068353,OCULOPHARYNGODISTAL MYOPATHY 1 | UMLS ID:C5231388 | oculopharyngodistal myopathy 1 | OMIM ID:618299 | OMIM ID:164310 | MONDO:0020793 | DOID:0081297 +BMGC_DS17858,BMG_DS068354,"MONDO:0008630 | OMIM ID:191800 | OMIM ID:118503 | urinary bladder, atony of | UMLS ID:C5231389 | BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT" +BMGC_DS17859,BMG_DS068355,"MONDO:0008939 | CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY | UMLS ID:C5231391 | cerebellar hyplasia/atrophy, epilepsy, and global developmental delay | OMIM ID:605609 | isolated cerebellar hypoplasia/agenesis | OMIM ID:213000 | DOID:0070339" +BMGC_DS17860,BMG_DS068356,"OMIM ID:236690 | HYDROCEPHALUS, NORMAL-PRESSURE, 1 | UMLS ID:C5231392" +BMGC_DS17861,BMG_DS068357,"OMIM ID:300715 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc | OMIM ID:301031 | UMLS ID:C5231393 | congenital disorder of glycosylation Icc | congenital disorder of glycosylation, type ICC | DOID:0111839 | MONDO:0026729" +BMGC_DS17862,BMG_DS068358,BASILICATA-AKHTAR SYNDROME | OMIM ID:300609 | OMIM ID:301032 | MONDO:0026730 | Basilicata-Akhtar syndrome | UMLS ID:C5231394 | DOID:0111838 +BMGC_DS17863,BMG_DS068359,"OMIM ID:301033 | MONDO:0026731 | UMLS ID:C5231395 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 | OMIM ID:300196 | DOID:0111837 | congenital nongoitrous hypothyroidism 8 | hypothyroidism, congenital, nongoitrous, 8" +BMGC_DS17864,BMG_DS068360,"OMIM ID:300904 | MONDO:0026732 | UMLS ID:C5231396 | hypothyroidism, congenital, nongoitrous, 9 | OMIM ID:301035 | DOID:0111835 | congenital nongoitrous hypothyroidism 9 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9" +BMGC_DS17865,BMG_DS068361,"autosomal recessive spinocerebellar ataxia 21 | OMIM ID:616719 | OMIM ID:607982 | CHOLESTASIS, LOW GGT, ACUTE LIVER FAILURE, AND NEURODEGENERATION SYNDROME | DOID:0111155 | UMLS ID:C5231399" +BMGC_DS17866,BMG_DS068362,"UMLS ID:C5231400 | OMIM ID:603808 | OMIM ID:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 | intellectual developmental disorder 61 | MONDO:0032485" +BMGC_DS17867,BMG_DS068363,"OMIM ID:160794 | congenital myopathy 16 | DOID:0081348 | CONGENITAL MYOPATHY 16 | UMLS ID:C5231401 | OMIM ID:618524 | MONDO:0032797 | myopathy, congenital, with tremor" +BMGC_DS17868,BMG_DS068364,UMLS ID:C5231402 | MONDO:0032803 | immunodeficiency 64 | OMIM ID:618534 | IMMUNODEFICIENCY 64 WITH LYMPHOPROLIFERATION | OMIM ID:603962 | DOID:0111980 +BMGC_DS17869,BMG_DS068365,"OMIM ID:618546 | TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE | trichothiodystrophy 7, nonphotosensitive | DOID:0111870 | nonphotosensitive trichothiodystrophy 7 | OMIM ID:187790 | MONDO:0032806 | UMLS ID:C5231403" +BMGC_DS17870,BMG_DS068366,MONDO:0032807 | UMLS ID:C5231404 | OMIM ID:618547 | OMIM ID:142600 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES | neurodevelopmental disorder with visual defects and brain anomalies +BMGC_DS17871,BMG_DS068367,"MONDO:0032808 | DOID:0112213 | UMLS ID:C5231405 | OMIM ID:605754 | multiple congenital anomalies-hypotonia-seizures syndrome 4 | developmental and epileptic encephalopathy, 77 | OMIM ID:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4" +BMGC_DS17872,BMG_DS068368,"OMIM ID:618549 | hepatitis, fulminant viral, susceptibility to | MONDO:0032809 | UMLS ID:C5231406" +BMGC_DS17873,BMG_DS068369,MONDO:0032810 | UMLS ID:C5231407 | oocyte maturation defect 7 | OMIM ID:618550 | OMIM ID:608420 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 7 +BMGC_DS17874,BMG_DS068370,"night blindness, congenital stationary, type1i | MONDO:0032811 | UMLS ID:C5231408 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I | OMIM ID:618555" +BMGC_DS17875,BMG_DS068371,"OMIM ID:137140 | OMIM ID:618557 | developmental and epileptic encephalopathy 78 | MONDO:0032812 | developmental and epileptic encephalopathy, 78 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78 | UMLS ID:C5231409 | DOID:0112214" +BMGC_DS17876,BMG_DS068372,"OMIM ID:618559 | DOID:0112215 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 | UMLS ID:C5231410 | developmental and epileptic encephalopathy, 79 | developmental and epileptic encephalopathy 79 | OMIM ID:137142 | MONDO:0032813" +BMGC_DS17877,BMG_DS068373,"Pontine autosomal dominant microangiopathy with leukoencephalopathy | UMLS ID:C5231411 | OMIM ID:618564 | microangiopathy and leukoencephalopathy, pontine, autosomal dominant | PADMAL - pontine autosomal dominant microangiopathy with leucoencephalopathy | PADMAL - pontine autosomal dominant microangiopathy with leukoencephalopathy | Pontine autosomal dominant microangiopathy with leucoencephalopathy | MONDO:0032814 | SNOMEDCT ID:1173997008 | Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder)" +BMGC_DS17878,BMG_DS068374,MONDO:0032815 | mitochondrial DNA depletion syndrome 17 | OMIM ID:618567 | DOID:0070448 | OMIM ID:606906 | UMLS ID:C5231412 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17 +BMGC_DS17879,BMG_DS068375,"OMIM ID:618569 | MONDO:0032816 | OMIM ID:617853 | UMLS ID:C5231413 | neurodevelopmental disorder with ataxia, hypotonia, and microcephaly | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY" +BMGC_DS17880,BMG_DS068376,"DOID:0070346 | UMLS ID:C5231414 | neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | MONDO:0032817 | OMIM ID:618571 | OMIM ID:611345 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES" +BMGC_DS17881,BMG_DS068377,OMIM ID:618572 | OMIM ID:611351 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY | UMLS ID:C5231415 | neurodevelopmental disorder with cerebellar hypoplasia and spasticity | MONDO:0032818 +BMGC_DS17882,BMG_DS068378,OMIM ID:602050 | MONDO:0032820 | neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | OMIM ID:618577 | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES | UMLS ID:C5231416 +BMGC_DS17883,BMG_DS068379,"MONDO:0032821 | congenital myopathy 19 | DOID:0081351 | myopathy, congenital, progressive, with scoliosis | OMIM ID:618578 | OMIM ID:167410 | UMLS ID:C5231417 | CONGENITAL MYOPATHY 19" +BMGC_DS17884,BMG_DS068380,"developmental and epileptic encephalopathy, 80 | UMLS ID:C5231418 | MONDO:0032822 | OMIM ID:604122 | developmental and epileptic encephalopathy 80 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 | DOID:0112216 | OMIM ID:618580" +BMGC_DS17885,BMG_DS068381,"MONDO:0032824 | UMLS ID:C5231419 | glycosylphosphatidylinositol biosynthesis defect 21 | OMIM ID:608528 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS | OMIM ID:618590" +BMGC_DS17886,BMG_DS068382,"UMLS ID:C5231420 | SHORT SLEEP, FAMILIAL NATURAL, 2 | OMIM ID:109630 | OMIM ID:618591" +BMGC_DS17887,BMG_DS068383,"epilepsy, idiopathic generalized, susceptibility to, 16 | OMIM ID:618596 | UMLS ID:C5231421 | MONDO:0032827" +BMGC_DS17888,BMG_DS068384,"spastic tetraplegia and axial hypotonia, progressive | MONDO:0032828 | OMIM ID:618598 | OMIM ID:147450 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE | UMLS ID:C5231422" +BMGC_DS17889,BMG_DS068385,neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | MONDO:0032829 | UMLS ID:C5231423 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES | OMIM ID:180660 | OMIM ID:618603 +BMGC_DS17890,BMG_DS068386,snijders blok-fisher syndrome | OMIM ID:618604 | UMLS ID:C5231424 | OMIM ID:602480 | SNIJDERS BLOK-FISHER SYNDROME | MONDO:0032830 +BMGC_DS17891,BMG_DS068387,"pontocerebellar hypoplasia, type 13 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13 | MONDO:0032831 | UMLS ID:C5231425 | DOID:0112332 | OMIM ID:618606 | pontocerebellar hypoplasia type 13 | OMIM ID:615738" +BMGC_DS17892,BMG_DS068388,"OMIM ID:618608 | MONDO:0032832 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES | intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | UMLS ID:C5231426 | OMIM ID:604909" +BMGC_DS17893,BMG_DS068389,"MONDO:0032833 | lower urinary tract obstruction, congenital | OMIM ID:618612 | OMIM ID:608669 | LOWER URINARY TRACT OBSTRUCTION, CONGENITAL | UMLS ID:C5231427" +BMGC_DS17894,BMG_DS068390,MONDO:0032834 | OMIM ID:613344 | OMIM ID:618613 | DOID:0112143 | UMLS ID:C5231428 | RETINITIS PIGMENTOSA 86 | retinitis pigmentosa 86 +BMGC_DS17895,BMG_DS068391,MONDO:0032836 | OMIM ID:618619 | Weiss-Kruszka syndrome | UMLS ID:C5231429 +BMGC_DS17896,BMG_DS068392,MONDO:0032837 | UMLS ID:C5231430 | OMIM ID:618620 | OMIM ID:609443 | DOID:0080945 | ABDOMINAL OBESITY-METABOLIC SYNDROME 4 | abdominal obesity-metabolic syndrome 4 +BMGC_DS17897,BMG_DS068393,"neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | OMIM ID:618622 | UMLS ID:C5231431 | OMIM ID:610457 | MONDO:0032838" +BMGC_DS17898,BMG_DS068394,UMLS ID:C5231432 | OMIM ID:600098 | DOID:0112170 | MONDO:0032839 | noonan syndrome 12 | Noonan syndrome 12 | NOONAN SYNDROME 12 | OMIM ID:618624 +BMGC_DS17899,BMG_DS068395,Rothmund-Thomson syndrome type 1 | OMIM ID:618625 | UMLS ID:C5231433 | Rothmund Thomson syndrome type 1 (disorder) | Rothmund Thomson syndrome type 1 | SNOMEDCT ID:1003922004 | MONDO:0016368 +BMGC_DS17900,BMG_DS068396,"OMIM ID:606351 | UMLS ID:C5231434 | USHER SYNDROME, TYPE 1M | MONDO:0032841 | Usher syndrome, type 1M | OMIM ID:618632" +BMGC_DS17901,BMG_DS068397,MONDO:0032842 | Siddiqi syndrome | OMIM ID:618635 | SIDDIQI SYNDROME | UMLS ID:C5231435 | OMIM ID:612029 | DOID:0081273 +BMGC_DS17902,BMG_DS068398,UMLS ID:C5231436 | OMIM ID:618639 | oculopharyngeal myopathy with leukoencephalopathy 1 | OMIM ID:618637 | OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 | MONDO:0032843 +BMGC_DS17903,BMG_DS068399,OMIM ID:610089 | UMLS ID:C5231437 | infantile liver failure syndrome 3 | OMIM ID:618641 | MONDO:0032844 | INFANTILE LIVER FAILURE SYNDROME 3 +BMGC_DS17904,BMG_DS068400,SPERMATOGENIC FAILURE 39 | OMIM ID:618643 | OMIM ID:610063 | DOID:0111926 | spermatogenic failure 39 | MONDO:0032845 | UMLS ID:C5231438 +BMGC_DS17905,BMG_DS068401,"UMLS ID:C5231439 | DOID:0111849 | OMIM ID:607783 | osteogenesis imperfecta, type 20 | OMIM ID:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX | osteogenesis imperfecta type 20 | MONDO:0032846" +BMGC_DS17906,BMG_DS068402,OMIM ID:618646 | OMIM ID:616253 | MONDO:0020762 | diencephalic-mesencephalic junction dysplasia syndrome 2 | DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 | UMLS ID:C5231440 +BMGC_DS17907,BMG_DS068403,"OMIM ID:147574 | MONDO:0032848 | DOID:0111978 | OMIM ID:618648 | IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS | immunodeficiency 65, susceptibility to viral infections | UMLS ID:C5231441 | immunodeficiency 65" +BMGC_DS17908,BMG_DS068404,"Halperin-Birk syndrome | HALPERIN-BIRK SYNDROME | neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | OMIM ID:618651 | OMIM ID:610257 | DOID:0070539 | MONDO:0032849 | UMLS ID:C5231442" +BMGC_DS17909,BMG_DS068405,MONDO:0032850 | OMIM ID:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME | OMIM ID:618586 | UMLS ID:C5231443 | DOID:0111675 | neurooculocardiogenitourinary syndrome +BMGC_DS17910,BMG_DS068406,intellectual developmental disorder with impaired language and dysmorphic facies | OMIM ID:600326 | UMLS ID:C5231444 | MONDO:0032851 | OMIM ID:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES +BMGC_DS17911,BMG_DS068407,"OMIM ID:618654 | MONDO:0032852 | congenital myopathy 8 | CONGENITAL MYOPATHY 8 | myopathy, congenital, with structured cores and z-line abnormalities | DOID:0081342 | UMLS ID:C5231445 | OMIM ID:102573" +BMGC_DS17912,BMG_DS068408,zimmermann-laband syndrome 3 | MONDO:0032854 | OMIM ID:618658 | ZIMMERMANN-LABAND SYNDROME 3 | UMLS ID:C5231447 | OMIM ID:602983 +BMGC_DS17913,BMG_DS068409,OMIM ID:618659 | 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 +BMGC_DS17914,BMG_DS068410,"UMLS ID:C5231449 | OMIM ID:618656 | OMIM ID:618662 | MONDO:0032857 | diarrhea 11, malabsorptive, congenital | DIARRHEA 11, MALABSORPTIVE, CONGENITAL" +BMGC_DS17915,BMG_DS068411,"UMLS ID:C5231450 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 | developmental and epileptic encephalopathy 81 | developmental and epileptic encephalopathy, 81 | DOID:0112217 | OMIM ID:612186 | OMIM ID:618663 | MONDO:0032858" +BMGC_DS17916,BMG_DS068412,MONDO:0032859 | UMLS ID:C5231451 | spermatogenic failure 40 | OMIM ID:614270 | DOID:0111918 | SPERMATOGENIC FAILURE 40 | OMIM ID:618664 +BMGC_DS17917,BMG_DS068413,"DOID:0080765 | UMLS ID:C5231452 | OMIM ID:618665 | MONDO:0032860 | intellectual developmental disorder, autosomal recessive 72 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72 | OMIM ID:618628 | autosomal recessive intellectual developmental disorder 72" +BMGC_DS17918,BMG_DS068414,UMLS ID:C5231453 | MONDO:0020748 | OMIM ID:618666 | DOID:0060983 | SITOSTEROLEMIA 2 | sitosterolemia 2 | OMIM ID:605459 +BMGC_DS17919,BMG_DS068415,"UMLS ID:C5231454 | OMIM ID:618667 | MONDO:0032862 | hydrocephalus, congenital communicating, 1 | OMIM ID:618570 | HYDROCEPHALUS, CONGENITAL, 4" +BMGC_DS17920,BMG_DS068416,spermatogenic failure 41 | MONDO:0032863 | DOID:0111912 | SPERMATOGENIC FAILURE 41 | OMIM ID:618670 | UMLS ID:C5231455 | OMIM ID:618661 +BMGC_DS17921,BMG_DS068417,"OMIM ID:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES | intellectual developmental disorder with speech delay, autism, and dysmorphic facies | MONDO:0032864 | UMLS ID:C5231456 | OMIM ID:604910" +BMGC_DS17922,BMG_DS068418,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 5 | OMIM ID:616381 | MONDO:0032865 | OMIM ID:618674 | UMLS ID:C5231457 | pulmonary fibrosis and/or bone marrow failure, telomere-related, 5" +BMGC_DS17923,BMG_DS068419,"UMLS ID:C5231458 | MONDO:0032866 | OMIM ID:618677 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 | OMIM ID:612034 | cortical dysplasia, complex, with other brain malformations 10" +BMGC_DS17924,BMG_DS068420,"UMLS ID:C5231459 | pancreatic cancer, susceptibility to, 5 | OMIM ID:618680 | MONDO:0032867" +BMGC_DS17925,BMG_DS068421,lessel-kubisch syndrome | OMIM ID:164785 | LESSEL-KUBISCH SYNDROME | OMIM ID:618681 | MONDO:0032868 | UMLS ID:C5231460 +BMGC_DS17926,BMG_DS068422,"UMLS ID:C5231461 | DOID:0111749 | mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 | OMIM ID:618683 | MONDO:0032869 | mitochondrial complex V (ATP synthase) deficiency nuclear type 6 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 | OMIM ID:615204" +BMGC_DS17927,BMG_DS068423,UMLS ID:C5231462 | intellectual developmental disorder with short stature and behavioral abnormalities | OMIM ID:618687 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES | OMIM ID:610166 | MONDO:0032870 | DOID:0111674 +BMGC_DS17928,BMG_DS068424,"leukodystrophy, hypomyelinating, 19, transient infantile | OMIM ID:618685 | hypomyelinating leukodystrophy 19 | OMIM ID:618688 | UMLS ID:C5231463 | DOID:0070400 | LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE | MONDO:0032871" +BMGC_DS17929,BMG_DS068425,"UMLS ID:C5231464 | MONDO:0032872 | ciliary dyskinesia, primary, 42 | OMIM ID:618695" +BMGC_DS17930,BMG_DS068426,RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT | MONDO:0032873 | retinitis pigmentosa 87 | retinitis pigmentosa 87 with choroidal involvement | OMIM ID:180069 | UMLS ID:C5231465 | OMIM ID:618697 | DOID:0112144 +BMGC_DS17931,BMG_DS068427,"primary ciliary dyskinesia 43 | UMLS ID:C5231466 | OMIM ID:618699 | DOID:0111856 | CILIARY DYSKINESIA, PRIMARY, 43 | MONDO:0032874 | ciliary dyskinesia, primary, 43" +BMGC_DS17932,BMG_DS068428,short stature and microcephaly with genital anomalies | MONDO:0032875 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES | UMLS ID:C5231467 | OMIM ID:618702 | OMIM ID:611510 +BMGC_DS17933,BMG_DS068429,UMLS ID:C5231469 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES | MONDO:0032876 | OMIM ID:605035 | OMIM ID:618707 | neurodevelopmental disorder with absent language and variable seizures +BMGC_DS17934,BMG_DS068430,neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | OMIM ID:606582 | MONDO:0032877 | UMLS ID:C5231470 | NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES | OMIM ID:618709 +BMGC_DS17935,BMG_DS068431,"UMLS ID:C5231471 | OMIM ID:618718 | OMIM ID:618689 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA | MONDO:0032878 | neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia" +BMGC_DS17936,BMG_DS068432,"UMLS ID:C5231472 | OMIM ID:618719 | megabladder, congenital | MONDO:0032879" +BMGC_DS17937,BMG_DS068433,"UMLS ID:C5231473 | MONDO:0032880 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 | OMIM ID:138150 | OMIM ID:618721 | developmental and epileptic encephalopathy, 82 | DOID:0080715 | developmental and epileptic encephalopathy 82" +BMGC_DS17938,BMG_DS068434,DOID:0080873 | primary ovarian insufficiency 16 | OMIM ID:618723 | PREMATURE OVARIAN FAILURE 16 | MONDO:0032881 | OMIM ID:601930 | UMLS ID:C5231474 | premature ovarian failure 16 +BMGC_DS17939,BMG_DS068435,Heyn-Sproul-Jackson syndrome | OMIM ID:602769 | MONDO:0032882 | HEYN-SPROUL-JACKSON SYNDROME | OMIM ID:618724 | UMLS ID:C5231475 +BMGC_DS17940,BMG_DS068436,OMIM ID:608325 | OMIM ID:618725 | MONDO:0032883 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES | intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | UMLS ID:C5231476 +BMGC_DS17941,BMG_DS068437,"OMIM ID:618727 | 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" +BMGC_DS17942,BMG_DS068438,"spondyloepimetaphyseal dysplasia, Isidor-Toutain type | OMIM ID:113703 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE | UMLS ID:C5231478 | MONDO:0032885 | OMIM ID:618728" +BMGC_DS17943,BMG_DS068439,MONDO:0032886 | UMLS ID:C5231479 | LIANG-WANG SYNDROME | OMIM ID:618729 | OMIM ID:600150 | Liang-Wang syndrome +BMGC_DS17944,BMG_DS068440,"OMIM ID:616715 | neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | MONDO:0032887 | UMLS ID:C5231480 | OMIM ID:618730 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY" +BMGC_DS17945,BMG_DS068441,neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | UMLS ID:C5231481 | OMIM ID:618731 | MONDO:0032888 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES +BMGC_DS17946,BMG_DS068442,Poirier-Bienvenu neurodevelopmental syndrome | UMLS ID:C5231482 | MONDO:0032889 | OMIM ID:618732 +BMGC_DS17947,BMG_DS068443,OMIM ID:618733 | UMLS ID:C5231483 | OMIM ID:603405 | neuromuscular disease and ocular or auditory anomalies with or without seizures | MONDO:0032890 | NEUROMUSCULAR OCULOAUDITORY SYNDROME +BMGC_DS17948,BMG_DS068444,"MONDO:0032891 | ANEURYSM, INTRACRANIAL BERRY, 12 | OMIM ID:618734 | UMLS ID:C5231484 | DOID:0080975 | aneurysm, intracranial berry, 12 | OMIM ID:616821 | intracranial berry aneurysm 12" +BMGC_DS17949,BMG_DS068445,MONDO:0032892 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS | structural brain anomalies with impaired intellectual development and craniosynostosis | OMIM ID:600470 | UMLS ID:C5231485 | OMIM ID:618736 +BMGC_DS17950,BMG_DS068446,"UMLS ID:C5231486 | pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 15 | MONDO:0032893 | OMIM ID:618737 | OMIM ID:617817 | DOID:0081266" +BMGC_DS17951,BMG_DS068447,"developmental and epileptic encephalopathy 83 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 | OMIM ID:618744 | OMIM ID:191760 | MONDO:0032895 | UMLS ID:C5231487 | DOID:0112218 | developmental and epileptic encephalopathy, 83" +BMGC_DS17952,BMG_DS068448,DOID:0111923 | UMLS ID:C5231488 | spermatogenic failure 42 | OMIM ID:618745 | MONDO:0032896 | SPERMATOGENIC FAILURE 42 | OMIM ID:618735 +BMGC_DS17953,BMG_DS068449,intellectual developmental disorder with hypotonia and behavioral abnormalities | OMIM ID:603184 | UMLS ID:C5231489 | OMIM ID:618748 | MONDO:0032897 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES +BMGC_DS17954,BMG_DS068450,spermatogenic failure 43 | MONDO:0032898 | DOID:0111917 | OMIM ID:618751 | SPERMATOGENIC FAILURE 43 | UMLS ID:C5231490 | OMIM ID:610172 +BMGC_DS17955,BMG_DS068451,OMIM ID:618760 | UMLS ID:C5231491 | neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS | MONDO:0032900 +BMGC_DS17956,BMG_DS068452,MONDO:0032901 | Catifa syndrome | OMIM ID:610354 | CATIFA SYNDROME | UMLS ID:C5231492 | OMIM ID:618761 +BMGC_DS17957,BMG_DS068453,UMLS ID:C5231493 | OMIM ID:618413 | OMIM ID:618763 | Joubert syndrome 36 | JOUBERT SYNDROME 36 | MONDO:0032902 +BMGC_DS17958,BMG_DS068454,"MONDO:0032903 | arthrogryposis multiplex congenita-4 | OMIM ID:618766 | arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | DOID:0080980 | UMLS ID:C5231494 | OMIM ID:616365 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM" +BMGC_DS17959,BMG_DS068455,"CORNEAL DYSTROPHY, MEESMANN, 2 | OMIM ID:618767 | OMIM ID:148043 | MONDO:0032904 | Meesmann corneal dystrophy 2 | DOID:0080671 | UMLS ID:C5231495 | corneal dystrophy, Meesmann, 2" +BMGC_DS17960,BMG_DS068456,OMIM ID:114190 | LYMPHATIC MALFORMATION 8 | lymphatic malformation 8 | OMIM ID:618773 | UMLS ID:C5231496 | MONDO:0032907 +BMGC_DS17961,BMG_DS068457,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES | UMLS ID:C5231497 | intellectual developmental disorder 60 with seizures | OMIM ID:618587 | MONDO:0032823 | OMIM ID:601024" +BMGC_DS17962,BMG_DS068458,"OMIM ID:618594 | MONDO:0032826 | UMLS ID:C5231498 | nephrotic syndrome type 21 | OMIM ID:613397 | DOID:0112267 | nephrotic syndrome, type 21 | NEPHROTIC SYNDROME, TYPE 21" +BMGC_DS17963,BMG_DS068459,"OMIM ID:122100 | DOID:0080670 | Meesmann corneal dystrophy 1 | OMIM ID:601687 | MONDO:0020791 | corneal dystrophy, Meesmann, 1 | UMLS ID:C5231499 | CORNEAL DYSTROPHY, MEESMANN, 1" +BMGC_DS17964,BMG_DS068460,UMLS ID:C5231501 | OMIM ID:618608 | CHROMOSOME 12q15 DELETION SYNDROME +BMGC_DS17965,BMG_DS068468,MONDO:0019531 | DOID:0051009 | hemolytic anemia due to glutathione reductase deficiency | OMIM ID:618660 | HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY | congenital nonspherocytic hemolytic anemia 10 | OMIM ID:138300 | UMLS ID:C5231513 +BMGC_DS17966,BMG_DS068478,"UMLS ID:C5231533 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SEVERE | OMIM ID:605712" +BMGC_DS17967,BMG_DS068488,"primary hypoalphalipoproteinemia 1 | DOID:0080957 | UMLS ID:C5231558 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1 | hypoalphalipoproteinemia, primary, 1 | OMIM ID:604091 | MONDO:0011393" +BMGC_DS17968,BMG_DS068490,UMLS ID:C5232302 | MeSH ID:D014718 | Secondary Vesicoureteral Reflux | Vesico-Ureteral Reflux +BMGC_DS17969,BMG_DS068505,Olfaction Disorders | UMLS ID:C5234846 | MeSH ID:D000857 | Olfactory Impairment +BMGC_DS17970,BMG_DS068506,MONDO:0008803 | UMLS ID:C5234850 | Antley-Bixler syndrome | MeSH ID:D054882 | Antley-Bixler Syndrome Phenotype | Antley-Bixler Syndrome +BMGC_DS17971,BMG_DS068507,"OMIM ID:219150 | UMLS ID:C5234852 | OMIM ID:138250 | ALDH18A1-related de Barsy syndrome | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA | MONDO:0009053" +BMGC_DS17972,BMG_DS068509,UMLS ID:C5234880 | gastrointestinal defect and immunodeficiency syndrome | MONDO:0030831 +BMGC_DS17973,BMG_DS068512,Hemorrhagic Stroke | MeSH ID:D000083302 | UMLS ID:C5234922 +BMGC_DS17974,BMG_DS068516,Acromesomelic dwarfism | SNOMEDCT ID:279082008 | SNOMEDCT ID:90635004 | Acromesomelic dysplasia (disorder) | Acromesomelic dysplasia syndrome (disorder) | Acromesomelic dysplasia syndrome | SNOMEDCT ID:205474002 | Acromesomelic dysplasia group | MONDO:0019696 | acromesomelic dysplasia | Acromesomelic dysplasia | Acromesomelic dysplasia group (disorder) | UMLS ID:C5235036 +BMGC_DS17975,BMG_DS068518,UMLS ID:C5235087 | Cryptococcosis | MeSH ID:D003453 +BMGC_DS17976,BMG_DS068519,MONDO:0012476 | UMLS ID:C5235139 | OMIM ID:610357 | hereditary spastic paraplegia 30 +BMGC_DS17977,BMG_DS068520,"MeSH ID:C537592 | Kostmann syndrome | MONDO:0012548 | UMLS ID:C5235141 | Neutropenia, Severe Congenital, Autosomal Recessive 3 | OMIM ID:610738" +BMGC_DS17978,BMG_DS068525,UMLS ID:C5235196 | Bitemporal aplasia cutis congenita | focal facial dermal dysplasia type I | OMIM ID:136500 | Focal facial dermal dysplasia type I (disorder) | MONDO:0007627 | Brauer syndrome | SNOMEDCT ID:789157007 | Focal facial dermal dysplasia type I | FFDD type 1 - focal facial dermal dysplasia type 1 | Focal facial dermal dysplasia 1 Brauer type +BMGC_DS17979,BMG_DS068526,"UMLS ID:C5235211 | SNOMEDCT ID:860813007 | neuropathy, hereditary sensory and autonomic, type 1A | OMIM ID:162400 | Hereditary sensory autonomic neuropathy type IA (disorder) | Hereditary sensory autonomic neuropathy type IA | MONDO:0008086" +BMGC_DS17980,BMG_DS068535,MONDO:0032912 | COFFIN-SIRIS SYNDROME 11 | OMIM ID:601735 | DOID:0112372 | OMIM ID:618779 | UMLS ID:C5241442 | Coffin-Siris syndrome 11 +BMGC_DS17981,BMG_DS068536,"DOID:0111387 | UMLS ID:C5241444 | HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 | hypoparathyroidism, familial isolated 1 | familial isolated hypoparathyroidism | OMIM ID:168450 | MONDO:0007796 | OMIM ID:146200" +BMGC_DS17982,BMG_DS068537,"UMLS ID:C5241445 | OMIM ID:179300 | radioulnar synostosis, nonsyndromic, susceptibility to | MONDO:0100183" +BMGC_DS17983,BMG_DS068539,"Emery-Dreifuss Muscular Dystrophy 1 | Emery-Dreifuss muscular dystrophy 1, X-linked | UMLS ID:C5243475 | X-Linked Emery-Dreifuss Muscular Dystrophy | OMIM ID:310300 | MeSH ID:D000083143 | MONDO:0100531" +BMGC_DS17984,BMG_DS068540,MeSH ID:D024821 | UMLS ID:C5243476 | Metabolic Syndrome | Cardiometabolic Syndrome +BMGC_DS17985,BMG_DS068542,UMLS ID:C5243581 | SNOMEDCT ID:1208488006 | Special AT-rich sequence-binding protein 2-associated syndrome (disorder) | Special AT-rich sequence-binding protein 2-associated syndrome | SATB2-associated syndrome +BMGC_DS17986,BMG_DS068548,acid sphingomyelinase deficiency | MONDO:0100464 | UMLS ID:C5243927 +BMGC_DS17987,BMG_DS068550,"UMLS ID:C5243948 | OMIM ID:616414 | SNOMEDCT ID:1222679006 | COPA (coatomer protein complex subunit alpha) syndrome | MONDO:0014629 | autoimmune interstitial lung disease-arthritis syndrome | Autoimmune interstitial lung disease, arthritis syndrome (disorder) | Autoimmune interstitial lung disease, arthritis syndrome" +BMGC_DS17988,BMG_DS068551,UMLS ID:C5244016 | cerebral creatine deficiency syndrome | MONDO:0000456 +BMGC_DS17989,BMG_DS068552,SNOMEDCT ID:882784691000119100 | Pneumonia caused by SARS-CoV-2 | Pneumonia caused by severe acute respiratory syndrome coronavirus 2 (disorder) | UMLS ID:C5244027 | Pneumonia caused by 2019-nCoV | COVID-19 pneumonia | Pneumonia caused by severe acute respiratory syndrome coronavirus 2 | Pneumonia caused by 2019 novel coronavirus +BMGC_DS17990,BMG_DS068772,Laminopathies | laminopathy | MONDO:0021106 | UMLS ID:C5392094 | MeSH ID:D000083083 +BMGC_DS17991,BMG_DS068773,Ischemic Stroke | MeSH ID:D000083242 | Cryptogenic Ischemic Stroke | UMLS ID:C5392097 +BMGC_DS17992,BMG_DS068774,Intracerebral Hemorrhagic Stroke | Hemorrhagic Stroke | MeSH ID:D000083302 | UMLS ID:C5392098 +BMGC_DS17993,BMG_DS068781,"Respiratory Distress Syndrome, Pediatric | Respiratory Distress Syndrome | UMLS ID:C5392184 | MeSH ID:D012128" +BMGC_DS17994,BMG_DS068792,Ischemic Stroke | MeSH ID:D000083242 | UMLS ID:C5392832 | Wake-up Stroke +BMGC_DS17995,BMG_DS068793,Acute Ischemic Stroke | MeSH ID:D000083242 | UMLS ID:C5392833 | Ischemic Stroke +BMGC_DS17996,BMG_DS068795,MeSH ID:D000083302 | Subarachnoid Hemorrhagic Stroke | Hemorrhagic Stroke | UMLS ID:C5392835 +BMGC_DS17997,BMG_DS068805,Smell Dysfunction | MeSH ID:D000857 | UMLS ID:C5392883 | Olfaction Disorders +BMGC_DS17998,BMG_DS068814,UMLS ID:C5392959 | MeSH ID:D013651 | Taste Dysfunction | Taste Disorders +BMGC_DS17999,BMG_DS068815,Pityriasis Folliculitis | UMLS ID:C5392960 | Tinea Versicolor | MeSH ID:D014010 +BMGC_DS18000,BMG_DS068819,MONDO:0020796 | Silver-Russell syndrome 1 | OMIM ID:180860 | SILVER-RUSSELL SYNDROME 1 | UMLS ID:C5393125 +BMGC_DS18001,BMG_DS068822,"UMLS ID:C5393299 | OMIM ID:300958 | MONDO:0010497 | intellectual disability, X-linked 102 | OMIM ID:300160 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE" +BMGC_DS18002,BMG_DS068823,"MONDO:0026733 | OMIM ID:300766 | OMIM ID:301039 | UMLS ID:C5393302 | intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE" +BMGC_DS18003,BMG_DS068824,"female-restricted Wieacker-Wolff syndrome | Wieacker-Wolff syndrome, female-restricted | MONDO:0026762 | OMIM ID:300897 | OMIM ID:301041 | DOID:0061015 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED | UMLS ID:C5393303" +BMGC_DS18004,BMG_DS068825,"OMIM ID:300826 | holoprosencephaly 13, X-linked | UMLS ID:C5393308 | HOLOPROSENCEPHALY 13, X-LINKED | OMIM ID:301043 | Holoprosencephaly 13, X-linked | DOID:0060954 | MONDO:0026763" +BMGC_DS18005,BMG_DS068826,UMLS ID:C5393309 | microform holoprosencephaly | MONDO:0017219 +BMGC_DS18006,BMG_DS068827,"UMLS ID:C5393312 | MONDO:0026771 | OMIM ID:301044 | developmental and epileptic encephalopathy, 85, with or without midline brain defects | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS | DOID:0070380 | OMIM ID:300040 | developmental and epileptic encephalopathy 85" +BMGC_DS18007,BMG_DS068828,"UMLS ID:C5393313 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr | OMIM ID:301045 | congenital disorder of glycosylation, type IIr | MONDO:0026765 | OMIM ID:300556" +BMGC_DS18008,BMG_DS068829,"OMIM ID:138079 | DIABETES MELLITUS, PERMANENT NEONATAL, 1 | UMLS ID:C5393570 | MONDO:0100165 | DOID:0060639 | OMIM ID:606176 | permanent neonatal diabetes mellitus 1 | permanent neonatal diabetes mellitus" +BMGC_DS18009,BMG_DS068831,"OMIM ID:614255 | UMLS ID:C5393830 | intellectual disability, autosomal dominant 9 | MONDO:0013656" +BMGC_DS18010,BMG_DS068832,UMLS ID:C5393908 | HAO-FOUNTAIN SYNDROME | OMIM ID:616863 | MONDO:0014805 | Hao-Fountain syndrome | OMIM ID:602519 +BMGC_DS18011,BMG_DS068833,"OMIM ID:618741 | UMLS ID:C5394027 | MONDO:0032894 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY | OMIM ID:610971 | neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy" +BMGC_DS18012,BMG_DS068834,"OMIM ID:618768 | SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE | DOID:0112349 | spastic paraplegia 81, autosomal recessive | MONDO:0032905 | hereditary spastic paraplegia 81 | UMLS ID:C5394033 | OMIM ID:607915" +BMGC_DS18013,BMG_DS068835,"hereditary spastic paraplegia 82 | spastic paraplegia 82, autosomal recessive | MONDO:0032906 | DOID:0112343 | OMIM ID:618770 | OMIM ID:602679 | SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE | UMLS ID:C5394037" +BMGC_DS18014,BMG_DS068836,CEBALID syndrome | UMLS ID:C5394044 | OMIM ID:156100 | MONDO:0032908 | OMIM ID:618774 | CEBALID SYNDROME +BMGC_DS18015,BMG_DS068837,"MONDO:0032909 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 | mitochondrial complex 3 deficiency, nuclear type 10 | UMLS ID:C5394051 | OMIM ID:618775 | OMIM ID:191327" +BMGC_DS18016,BMG_DS068838,"OMIM ID:618461 | DOID:0112091 | UMLS ID:C5394053 | OMIM ID:618776 | nuclear type mitochondrial complex I deficiency 34 | MONDO:0032910 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 | mitochondrial complex 1 deficiency, nuclear type 34" +BMGC_DS18017,BMG_DS068839,"DEAFNESS, AUTOSOMAL DOMINANT 75 | OMIM ID:603015 | UMLS ID:C5394059 | DOID:0112166 | MONDO:0032911 | OMIM ID:618778 | hearing loss, autosomal dominant 75 | autosomal dominant nonsyndromic deafness 75" +BMGC_DS18018,BMG_DS068840,"OMIM ID:618780 | congenital heart defects, multiple types, 7 | UMLS ID:C5394062 | MONDO:0032913" +BMGC_DS18019,BMG_DS068841,"primary ciliary dyskinesia 44 | ciliary dyskinesia, primary, 44 | OMIM ID:618781 | DOID:0111851 | MONDO:0032914 | UMLS ID:C5394063 | CILIARY DYSKINESIA, PRIMARY, 44 | OMIM ID:618726" +BMGC_DS18020,BMG_DS068842,long QT syndrome 16 | DOID:0070533 | OMIM ID:618782 | LONG QT SYNDROME 16 | UMLS ID:C5394068 | OMIM ID:114183 | MONDO:0032915 +BMGC_DS18021,BMG_DS068843,"ventricular tachycardia, catecholaminergic polymorphic 6 | MONDO:0800374 | UMLS ID:C5394069 | OMIM ID:114183 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 6" +BMGC_DS18022,BMG_DS068844,OMIM ID:606245 | UMLS ID:C5394073 | MONDO:0032916 | OMIM ID:618786 | IMAGAWA-MATSUMOTO SYNDROME | Imagawa-Matsumoto syndrome +BMGC_DS18023,BMG_DS068845,"OMIM ID:618787 | DOID:0112167 | UMLS ID:C5394080 | autosomal dominant nonsyndromic deafness 76 | hearing loss, autosomal dominant 76 | OMIM ID:602734 | MONDO:0032917 | DEAFNESS, AUTOSOMAL DOMINANT 76" +BMGC_DS18024,BMG_DS068846,"DOID:0112219 | OMIM ID:618792 | developmental and epileptic encephalopathy, 84 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 | MONDO:0032918 | developmental and epileptic encephalopathy 84 | OMIM ID:603370 | UMLS ID:C5394081" +BMGC_DS18025,BMG_DS068847,"OMIM ID:602887 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 | MONDO:0032919 | UMLS ID:C5394083 | intellectual developmental disorder 62 | OMIM ID:618793" +BMGC_DS18026,BMG_DS068848,"UMLS ID:C5394091 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION | MONDO:0032921 | neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | OMIM ID:608884 | OMIM ID:618797" +BMGC_DS18027,BMG_DS068849,UMLS ID:C5394097 | Beck-Fahrner syndrome | OMIM ID:618798 | MONDO:0032922 | BECK-FAHRNER SYNDROME +BMGC_DS18028,BMG_DS068850,"spinocerebellar ataxia, autosomal recessive 28 | OMIM ID:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 | UMLS ID:C5394101 | DOID:0070409 | MONDO:0032923 | OMIM ID:618802 | autosomal recessive spinocerebellar ataxia 28" +BMGC_DS18029,BMG_DS068851,"ciliary dyskinesia, primary, 45 | DOID:0111857 | UMLS ID:C5394104 | OMIM ID:618801 | primary ciliary dyskinesia 45 | OMIM ID:610732 | CILIARY DYSKINESIA, PRIMARY, 45 | MONDO:0032924" +BMGC_DS18030,BMG_DS068852,"UMLS ID:C5394112 | OMIM ID:606636 | RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL | respiratory papillomatosis, juvenile recurrent, congenital | OMIM ID:618803 | MONDO:0032925" +BMGC_DS18031,BMG_DS068853,sandestig-stefanova syndrome | UMLS ID:C5394118 | DOID:0081272 | OMIM ID:615587 | MONDO:0032926 | OMIM ID:618804 | Sandestig-Stefanova syndrome | SANDESTIG-STEFANOVA SYNDROME +BMGC_DS18032,BMG_DS068854,TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME | UMLS ID:C5394125 | OMIM ID:618805 | triokinase and FMN cyclase deficiency syndrome | OMIM ID:615844 | MONDO:0032927 +BMGC_DS18033,BMG_DS068855,"OMIM ID:600838 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT | MONDO:0032928 | UMLS ID:C5394133 | T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | OMIM ID:618806" +BMGC_DS18034,BMG_DS068856,INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA | intellectual developmental disorder with poor growth and with or without seizures or ataxia | UMLS ID:C5394135 | MONDO:0032930 | OMIM ID:618808 +BMGC_DS18035,BMG_DS068857,"neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome | OMIM ID:612316 | UMLS ID:C5394137 | MONDO:0032931 | DOID:0081396 | pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | OMIM ID:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL" +BMGC_DS18036,BMG_DS068858,DOID:0070449 | MONDO:0032932 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18 | mitochondrial DNA depletion syndrome 18 | OMIM ID:607571 | OMIM ID:618811 | UMLS ID:C5394140 +BMGC_DS18037,BMG_DS068859,"DOID:0070470 | OMIM ID:618815 | chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant | MONDO:0032933 | CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT | UMLS ID:C5394150 | chromosome 1p36.33 duplication syndrome" +BMGC_DS18038,BMG_DS068860,MONDO:0032934 | genitourinary and/or brain malformation syndrome | UMLS ID:C5394158 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME | OMIM ID:618820 | OMIM ID:602021 +BMGC_DS18039,BMG_DS068861,MONDO:0032935 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES | OMIM ID:618821 | OMIM ID:614150 | UMLS ID:C5394173 | rhizomelic limb shortening with dysmorphic features +BMGC_DS18040,BMG_DS068862,"CONGENITAL MYOPATHY 9A | UMLS ID:C5394189 | DOID:0081343 | OMIM ID:618822 | congenital myopathy 9A | myopathy, congenital, with respiratory insufficiency and bone fractures | MONDO:0032936" +BMGC_DS18041,BMG_DS068863,"myopathy, congenital proximal, with minicore lesions | DOID:0081344 | MONDO:0032937 | UMLS ID:C5394193 | congenital myopathy 9B | OMIM ID:618823 | CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS | OMIM ID:600819" +BMGC_DS18042,BMG_DS068864,"UMLS ID:C5394199 | MONDO:0032938 | OMIM ID:618824 | basal ganglia calcification, idiopathic, 8, autosomal recessive | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE | OMIM ID:606870" +BMGC_DS18043,BMG_DS068865,"MONDO:0032939 | OMIM ID:618825 | UMLS ID:C5394205 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | OMIM ID:601893 | intellectual developmental disorder, autosomal dominant 63, with macrocephaly" +BMGC_DS18044,BMG_DS068866,OMIM ID:618826 | OMIM ID:608581 | MONDO:0032940 | UMLS ID:C5394208 | RETINITIS PIGMENTOSA 88 | DOID:0112145 | retinitis pigmentosa 88 +BMGC_DS18045,BMG_DS068867,"MYOPIA 27, AUTOSOMAL DOMINANT | myopia 27 | OMIM ID:618827 | UMLS ID:C5394215 | MONDO:0032941" +BMGC_DS18046,BMG_DS068868,"MONDO:0032942 | NABAIS SA-DE VRIES SYNDROME, TYPE 1 | neurodevelopmental disorder with microcephaly and dysmorphic facies | UMLS ID:C5394218 | OMIM ID:618828 | OMIM ID:602650" +BMGC_DS18047,BMG_DS068869,"MONDO:0032943 | OMIM ID:618829 | OMIM ID:602650 | NABAIS SA-DE VRIES SYNDROME, TYPE 2 | UMLS ID:C5394221 | neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" +BMGC_DS18048,BMG_DS068870,"UMLS ID:C5394226 | autism, susceptibility to, 20 | OMIM ID:618830 | MONDO:0030004" +BMGC_DS18049,BMG_DS068871,Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) | QRSL1-related combined oxidative phosphorylation defect | UMLS ID:C5394232 | SNOMEDCT ID:1197430005 | Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect | combined oxidative phosphorylation deficiency 40 | OMIM ID:618835 | MONDO:0030006 +BMGC_DS18050,BMG_DS068872,MONDO:0030007 | OMIM ID:603645 | UMLS ID:C5394236 | DOID:0112119 | combined oxidative phosphorylation deficiency 41 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 | OMIM ID:618838 +BMGC_DS18051,BMG_DS068873,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 | OMIM ID:617210 | OMIM ID:618839 | UMLS ID:C5394237 | MONDO:0030008 | DOID:0112118 | combined oxidative phosphorylation deficiency 42 +BMGC_DS18052,BMG_DS068874,ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4 | alopecia-intellectual disability syndrome 4 | OMIM ID:618840 | DOID:0080950 | OMIM ID:600909 | alopecia-mental retardation syndrome 4 | MONDO:0030009 | UMLS ID:C5394241 +BMGC_DS18053,BMG_DS068875,HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA | OMIM ID:618841 | MONDO:0030010 | hypogonadotropic hypogonadism 25 with anosmia | OMIM ID:616506 | UMLS ID:C5394246 +BMGC_DS18054,BMG_DS068876,"MONDO:0030077 | OMIM ID:618845 | UMLS ID:C5394250 | vertebral, cardiac, renal, and limb defects syndrome 3 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 | OMIM ID:608285" +BMGC_DS18055,BMG_DS068877,Diets-Jongmans syndrome | OMIM ID:609373 | UMLS ID:C5394263 | DIETS-JONGMANS SYNDROME | MONDO:0030012 | OMIM ID:618846 +BMGC_DS18056,BMG_DS068878,OMIM ID:606078 | IMMUNODEFICIENCY 66 | immunodeficiency 66 | DOID:0111998 | UMLS ID:C5394265 | MONDO:0030013 | OMIM ID:618847 +BMGC_DS18057,BMG_DS068879,"UMLS ID:C5394268 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 | OMIM ID:618848 | OMIM ID:605824 | muscular dystrophy, limb-girdle, autosomal recessive 26 | MONDO:0030014" +BMGC_DS18058,BMG_DS068880,OMIM ID:602704 | BONE MARROW FAILURE SYNDROME 6 | MONDO:0030015 | bone marrow failure syndrome 6 | OMIM ID:618849 | UMLS ID:C5394274 +BMGC_DS18059,BMG_DS068881,OMIM ID:113530 | hypervalinemia and hyperleucine-isoleucinemia | HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA | MONDO:0100058 | OMIM ID:618850 | UMLS ID:C5394277 | DOID:0060950 +BMGC_DS18060,BMG_DS068882,combined oxidative phosphorylation deficiency 43 | MONDO:0030017 | DOID:0112116 | OMIM ID:607251 | OMIM ID:618851 | UMLS ID:C5394284 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 +BMGC_DS18061,BMG_DS068883,OMIM ID:618852 | MONDO:0030018 | autoinflammation with episodic fever and lymphadenopathy | UMLS ID:C5394286 +BMGC_DS18062,BMG_DS068884,DOID:0080963 | anauxetic dysplasia 3 | OMIM ID:617089 | ANAUXETIC DYSPLASIA 3 | MONDO:0030019 | OMIM ID:618853 | UMLS ID:C5394289 +BMGC_DS18063,BMG_DS068885,combined oxidative phosphorylation deficiency 44 | DOID:0070424 | OMIM ID:612322 | MONDO:0030020 | UMLS ID:C5394293 | OMIM ID:618855 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 +BMGC_DS18064,BMG_DS068886,"DIABETES MELLITUS, PERMANENT NEONATAL, 2 | UMLS ID:C5394296 | OMIM ID:600937 | MONDO:0030087 | diabetes mellitus, permanent neonatal 2 | OMIM ID:618856" +BMGC_DS18065,BMG_DS068887,"OMIM ID:600509 | DIABETES MELLITUS, PERMANENT NEONATAL, 3 | MONDO:0030088 | UMLS ID:C5394303 | diabetes mellitus, permanent neonatal 3 | OMIM ID:618857" +BMGC_DS18066,BMG_DS068888,"UMLS ID:C5394304 | DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 2 | MONDO:0800376 | developmental delay, epilepsy, and neonatal diabetes 2 | OMIM ID:618857" +BMGC_DS18067,BMG_DS068889,"diabetes mellitus, permanent neonatal 4 | UMLS ID:C5394307 | OMIM ID:618858 | MONDO:0030089 | DIABETES MELLITUS, PERMANENT NEONATAL, 4 | OMIM ID:176730" +BMGC_DS18068,BMG_DS068890,MONDO:0030024 | UMLS ID:C5394311 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES | neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | OMIM ID:618859 +BMGC_DS18069,BMG_DS068891,"OMIM ID:601218 | OMIM ID:618862 | UMLS ID:C5394312 | MONDO:0030025 | neurodevelopmental disorder with hypotonia, microcephaly, and seizures | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES" +BMGC_DS18070,BMG_DS068892,RETINAL DYSTROPHY WITH LEUKODYSTROPHY | UMLS ID:C5394315 | OMIM ID:618863 | MONDO:0030026 | retinal dystrophy with leukodystrophy | OMIM ID:616618 | DOID:0080946 +BMGC_DS18071,BMG_DS068893,"OMIM ID:618866 | tremor, hereditary essential, 6 | TREMOR, HEREDITARY ESSENTIAL, 6 | MONDO:0030027 | essential tremor 6 | UMLS ID:C5394329 | DOID:0081295" +BMGC_DS18072,BMG_DS068894,"UMLS ID:C5394335 | MONDO:0030028 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE | neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | OMIM ID:606105 | OMIM ID:618868" +BMGC_DS18073,BMG_DS068895,"UMLS ID:C5394341 | MONDO:0030029 | OMIM ID:618870 | OMIM ID:616615 | skeletal dysplasia, mild, with joint laxity and advanced bone age | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE" +BMGC_DS18074,BMG_DS068896,MONDO:0030030 | NIZON-ISIDOR SYNDROME | Nizon-Isidor syndrome | OMIM ID:618872 | OMIM ID:611318 | UMLS ID:C5394350 +BMGC_DS18075,BMG_DS068897,MONDO:0030031 | DOID:0112229 | lissencephaly 10 | UMLS ID:C5394354 | OMIM ID:618873 | LISSENCEPHALY 10 | OMIM ID:618865 +BMGC_DS18076,BMG_DS068898,"OMIM ID:618875 | OMIM ID:615322 | MONDO:0030033 | seizures, early-onset, with neurodegeneration and brain calcifications | SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS | UMLS ID:C5394359" +BMGC_DS18077,BMG_DS068899,"OMIM ID:608873 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11 | epilepsy, progressive myoclonic, 11 | UMLS ID:C5394362 | OMIM ID:618876 | MONDO:0030034" +BMGC_DS18078,BMG_DS068900,"LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME | MONDO:0030035 | OMIM ID:176871 | UMLS ID:C5394367 | leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | OMIM ID:618877" +BMGC_DS18079,BMG_DS068901,"leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome | OMIM ID:613635 | MONDO:0030036 | OMIM ID:618878 | LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME | UMLS ID:C5394371" +BMGC_DS18080,BMG_DS068902,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | OMIM ID:605087 | UMLS ID:C5394372 | OMIM ID:618879 | MONDO:0030037" +BMGC_DS18081,BMG_DS068903,"MONDO:0030038 | GLAUCOMA, PRIMARY CLOSED-ANGLE | UMLS ID:C5394374 | glaucoma, primary closed-angle | OMIM ID:618880" +BMGC_DS18082,BMG_DS068904,Deficiency of galactose mutarotase (disorder) | Galactosemia type 4 | galactosemia 4 | Deficiency of galactose mutarotase | UMLS ID:C5394377 | Galactosaemia type 4 | OMIM ID:618881 | MONDO:0030105 | GALM (galactose mutarotase) deficiency | SNOMEDCT ID:1187616008 +BMGC_DS18083,BMG_DS068905,"HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 | OMIM ID:603716 | UMLS ID:C5394383 | MONDO:0020798 | hypoparathyroidism, familial isolated, 2 | OMIM ID:618883" +BMGC_DS18084,BMG_DS068906,"proteinuria, chronic benign | MONDO:0030042 | UMLS ID:C5394384 | OMIM ID:618884" +BMGC_DS18085,BMG_DS068907,"MONDO:0030043 | OMIM ID:602274 | congenital disorder of glycosylation, type iit | OMIM ID:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt | UMLS ID:C5394387" +BMGC_DS18086,BMG_DS068908,pseudo-TORCH syndrome 3 | OMIM ID:618886 | UMLS ID:C5394391 | PSEUDO-TORCH SYNDROME 3 | OMIM ID:600556 | MONDO:0030044 +BMGC_DS18087,BMG_DS068910,"MONDO:0030045 | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome | SNOMEDCT ID:1284851009 | UMLS ID:C5394404 | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome (disorder) | Liberfarb syndrome | OMIM ID:618889" +BMGC_DS18088,BMG_DS068911,MONDO:0030046 | OMIM ID:618890 | 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 +BMGC_DS18089,BMG_DS068912,"OMIM ID:123859 | OMIM ID:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME | microcephaly, developmental delay, and brittle hair syndrome | UMLS ID:C5394425 | MONDO:0030047" +BMGC_DS18090,BMG_DS068913,"MONDO:0030049 | 46,XX sex reversal 5 | OMIM ID:107773 | UMLS ID:C5394441 | 46,xx sex reversal 5 | 46,XX SEX REVERSAL 5 | OMIM ID:618901 | DOID:0080943" +BMGC_DS18091,BMG_DS068914,MONDO:0030116 | UMLS ID:C5394446 | silver-russell syndrome 2 | SILVER-RUSSELL SYNDROME 2 | OMIM ID:618905 +BMGC_DS18092,BMG_DS068915,"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 | UMLS ID:C5394447 | DOID:0081430 | OMIM ID:618906" +BMGC_DS18093,BMG_DS068916,MONDO:0030118 | OMIM ID:618907 | SILVER-RUSSELL SYNDROME 4 | silver-russell syndrome 4 | UMLS ID:C5394450 | OMIM ID:603026 +BMGC_DS18094,BMG_DS068917,MONDO:0020795 | OMIM ID:600698 | Silver-Russell syndrome 5 | OMIM ID:618908 | SILVER-RUSSELL SYNDROME 5 | UMLS ID:C5394456 +BMGC_DS18095,BMG_DS068918,"MONDO:0030054 | developmental and epileptic encephalopathy 86 | developmental and epileptic encephalopathy, 86 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 | DOID:0112220 | OMIM ID:618910 | UMLS ID:C5394462 | OMIM ID:618904" +BMGC_DS18096,BMG_DS068919,"OMIM ID:182500 | MONDO:0030055 | OMIM ID:618912 | neuronopathy, distal hereditary motor, autosomal recessive 8 | autosomal recessive distal hereditary motor neuronopathy 8 | UMLS ID:C5394466 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 8 | DOID:0081427" +BMGC_DS18097,BMG_DS068920,OMIM ID:618913 | MONDO:0030056 | FANCONI RENOTUBULAR SYNDROME 5 | OMIM ID:612392 | Fanconi renotubular syndrome 5 | UMLS ID:C5394473 | DOID:0080761 +BMGC_DS18098,BMG_DS068921,"neurodevelopmental, jaw, eye, and digital syndrome | OMIM ID:605651 | UMLS ID:C5394477 | MONDO:0030057 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME | OMIM ID:618914" +BMGC_DS18099,BMG_DS068922,"DOID:0112168 | hearing loss, autosomal dominant 77 | autosomal dominant nonsyndromic deafness 77 | DEAFNESS, AUTOSOMAL DOMINANT 77 | OMIM ID:618915 | UMLS ID:C5394499 | OMIM ID:158343 | MONDO:0030058" +BMGC_DS18100,BMG_DS068923,"developmental and epileptic encephalopathy, 87 | developmental and epileptic encephalopathy 87 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 | OMIM ID:618916 | OMIM ID:614720 | DOID:0112221 | UMLS ID:C5394501 | MONDO:0030059" +BMGC_DS18101,BMG_DS068924,OMIM ID:618917 | UMLS ID:C5394502 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES | MONDO:0030060 | neurodevelopmental disorder with language impairment and behavioral abnormalities | OMIM ID:138247 +BMGC_DS18102,BMG_DS068925,MONDO:0030061 | OMIM ID:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9 | UMLS ID:C5394503 | periventricular nodular heterotopia 9 | OMIM ID:157129 +BMGC_DS18103,BMG_DS068926,"OMIM ID:114020 | MONDO:0030062 | arrhythmogenic right ventricular dysplasia 14 | UMLS ID:C5394505 | DOID:0080959 | OMIM ID:618920 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 | arrhythmogenic right ventricular dysplasia, familial, 14" +BMGC_DS18104,BMG_DS068927,"MONDO:0030063 | neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | OMIM ID:604101 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES | UMLS ID:C5394517 | OMIM ID:618922" +BMGC_DS18105,BMG_DS068928,"episodic ataxia type 9 | EPISODIC ATAXIA, TYPE 9 | DOID:0060965 | MONDO:0030064 | OMIM ID:182390 | OMIM ID:618924 | UMLS ID:C5394520 | episodic ataxia, type 9" +BMGC_DS18106,BMG_DS068929,"UMLS ID:C5394523 | OMIM ID:114020 | OMIM ID:618929 | MONDO:0030065 | DOID:0080948 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME | agenesis of corpus callosum, cardiac, ocular, and genital syndrome" +BMGC_DS18107,BMG_DS068930,"MONDO:0030066 | OMIM ID:618334 | DOID:0070368 | OMIM ID:618935 | granulomatous disease, chronic, autosomal recessive, 5 | autosomal recessive chronic granulomatous disease 5 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 | UMLS ID:C5394542" +BMGC_DS18108,BMG_DS068931,DOID:0080792 | MONDO:0030067 | OMIM ID:602000 | Treacher Collins syndrome 4 | OMIM ID:618939 | TREACHER COLLINS SYNDROME 4 | UMLS ID:C5394546 +BMGC_DS18109,BMG_DS068932,MONDO:0030134 | oculopharyngodistal myopathy 2 | OMIM ID:618940 | UMLS ID:C5394548 +BMGC_DS18110,BMG_DS068933,"UMLS ID:C5394550 | OMIM ID:618944 | MONDO:0030069 | hyper-IgE recurrent infection syndrome 5, autosomal recessive | OMIM ID:147880 | HYPER-IgE SYNDROME 5, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS" +BMGC_DS18111,BMG_DS068934,"UMLS ID:C5394551 | MONDO:0030070 | heterotaxy, visceral, 9, autosomal, with male infertility | OMIM ID:618948 | HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY | OMIM ID:610766" +BMGC_DS18112,BMG_DS068935,DOID:0112146 | RETINITIS PIGMENTOSA 89 | retinitis pigmentosa 89 | OMIM ID:603754 | UMLS ID:C5394552 | MONDO:0030071 | OMIM ID:618955 +BMGC_DS18113,BMG_DS068936,"UMLS ID:C5394553 | OMIM ID:154200 | developmental and epileptic encephalopathy 88 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 | developmental and epileptic encephalopathy, 88 | DOID:0112222 | MONDO:0030072 | OMIM ID:618959" +BMGC_DS18114,BMG_DS068937,OMIM ID:618960 | Mitchell syndrome | MONDO:0030073 | DOID:0070516 | UMLS ID:C5394554 +BMGC_DS18115,BMG_DS068938,"Spondylometaphyseal dysplasia, corneal dystrophy syndrome (disorder) | SNOMEDCT ID:1269226006 | spondylometaphyseal dysplasia with corneal dystrophy | OMIM ID:618961 | MONDO:0030074 | UMLS ID:C5394555 | Spondylometaphyseal dysplasia, corneal dystrophy syndrome" +BMGC_DS18116,BMG_DS068968,"neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome | DOID:0081396 | CHROMOSOME 1p36.33 DELETION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL RECESSIVE | OMIM ID:618810 | UMLS ID:C5394596" +BMGC_DS18117,BMG_DS068969,"UMLS ID:C5394597 | OMIM ID:618856 | DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 1 | MONDO:0800375 | developmental delay, epilepsy, and neonatal diabetes 1" +BMGC_DS18118,BMG_DS068972,UMLS ID:C5394674 | SNOMEDCT ID:829973009 | MONDO:0017992 | autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder) | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis +BMGC_DS18119,BMG_DS069019,acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | MONDO:0020316 | UMLS ID:C5395080 +BMGC_DS18120,BMG_DS069445,SNOMEDCT ID:870286003 | Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) | Pelizaeus Merzbacher like disease due to AIMP1 mutation | UMLS ID:C5396702 +BMGC_DS18121,BMG_DS069651,Pena-Shokeir syndrome type 2 | UMLS ID:C5399761 | SNOMEDCT ID:41283003 | CAMFAK - Cerebro-oculo-facio-skeletal syndrome | COFS syndrome | Cerebro-oculo-facio-skeletal syndrome (disorder) | Cerebro-oculo-facio-skeletal syndrome | COFS - Cerebro-oculo-facio-skeletal syndrome | MONDO:0008926 | CAMAK - Cerebro-oculo-facio-skeletal syndrome +BMGC_DS18122,BMG_DS069652,MONDO:0010590 | UMLS ID:C5399762 | FG syndrome 1 | OMIM ID:305450 +BMGC_DS18123,BMG_DS069653,MeSH ID:C536928 | MONDO:0010159 | mismatch repair cancer syndrome 1 | OMIM ID:276300 | UMLS ID:C5399763 +BMGC_DS18124,BMG_DS069656,SNOMEDCT ID:1003431005 | Mandibuloacral dysplasia with type A lipodystrophy | MONDO:0009557 | MeSH ID:C535705 | Mandibuloacral dysostosis co-occurrent with type A lipodystrophy | OMIM ID:248370 | mandibuloacral dysplasia with type A lipodystrophy | Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (disorder) | UMLS ID:C5399785 +BMGC_DS18125,BMG_DS069659,"OMIM ID:300490 | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | X-linked lymphoproliferative disease due to SH2D1A deficiency | OMIM ID:308240 | UMLS ID:C5399825 | MONDO:0024551" +BMGC_DS18126,BMG_DS069660,"Familial Mediterranean Fever, Autosomal Recessive | UMLS ID:C5399837 | MeSH ID:D010505 | Familial Mediterranean Fever" +BMGC_DS18127,BMG_DS069661,Sugarman brachydactyly | OMIM ID:272150 | UMLS ID:C5399870 | MONDO:0010087 +BMGC_DS18128,BMG_DS069662,UMLS ID:C5399872 | X-linked scapuloperoneal muscular dystrophy (disorder) | X-linked scapuloperoneal syndrome | SNOMEDCT ID:784352007 | X-linked scapuloperoneal muscular dystrophy +BMGC_DS18129,BMG_DS069664,"MeSH ID:C563218 | OMIM ID:613678 | MONDO:0013360 | brachyolmia, Maroteaux type | UMLS ID:C5399913 | Brachyolmia Type 2" +BMGC_DS18130,BMG_DS069665,DOID:7221 | gallbladder papillary carcinoma | UMLS ID:C5399921 +BMGC_DS18131,BMG_DS069666,FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 | OMIM ID:158900 | DOID:0111192 | UMLS ID:C5399970 | facioscapulohumeral muscular dystrophy 1 | MONDO:0008030 +BMGC_DS18132,BMG_DS069667,"MONDO:0100213 | IFAP syndrome 1, with or without BRESHECK syndrome | UMLS ID:C5399971 | IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME | OMIM ID:308205" +BMGC_DS18133,BMG_DS069668,UMLS ID:C5399973 | Periventricular heterotopia | OMIM ID:MTHU022782 +BMGC_DS18134,BMG_DS069669,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 | OMIM ID:602337 | DOID:0060764 | autosomal recessive Robinow syndrome | MONDO:0009999 | OMIM ID:268310 | UMLS ID:C5399974" +BMGC_DS18135,BMG_DS069670,"OMIM ID:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES | distal myopathy with rimmed vacuoles | OMIM ID:601530 | myopathy, distal, with rimmed vacuoles | DOID:0081363 | MONDO:0014945 | UMLS ID:C5399975" +BMGC_DS18136,BMG_DS069671,"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | UMLS ID:C5399977 | MONDO:0011451 | OMIM ID:604377 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 | OMIM ID:604272 | mitochondrial complex IV deficiency nuclear type 2 | DOID:0080357" +BMGC_DS18137,BMG_DS069672,"OMIM ID:602722 | UMLS ID:C5399980 | RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS | MONDO:0011268 | OMIM ID:605239 | renal tubular acidosis, distal, 3, with or without sensorineural hearing loss" +BMGC_DS18138,BMG_DS069680,MONDO:0001437 | pulmonary alveolar proteinosis | UMLS ID:C5400698 +BMGC_DS18139,BMG_DS069683,"17q11 deletion syndrome | Neurofibromatosis type 1 microdeletion syndrome | Monosomy 17q11 | Chromosome 17q11.2 deletion syndrome | 17q11 deletion syndrome (disorder) | MONDO:0013357 | UMLS ID:C5401456 | OMIM ID:613675 | SNOMEDCT ID:880093002 | chromosome 17q11.2 deletion syndrome, 1.4Mb" +BMGC_DS18140,BMG_DS069688,DOID:8216 | UMLS ID:C5421232 | parapharyngeal meningioma +BMGC_DS18141,BMG_DS069704,OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES | OMIM ID:600439 | UMLS ID:C5435585 | MONDO:0008135 | OMIM ID:165510 | optic atrophy 13 with retinal and foveal abnormalities +BMGC_DS18142,BMG_DS069705,"microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | OMIM ID:193220 | UMLS ID:C5435648 | MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 2 | MONDO:0800296 | OMIM ID:607854" +BMGC_DS18143,BMG_DS069706,"arthrogryposis multiplex congenita 2, neurogenic type | UMLS ID:C5435650 | OMIM ID:208100 | OMIM ID:617946 | MONDO:0008823 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE" +BMGC_DS18144,BMG_DS069707,OMIM ID:609884 | COACH SYNDROME 1 | OMIM ID:216360 | UMLS ID:C5435651 | COACH syndrome 1 | MONDO:0800103 +BMGC_DS18145,BMG_DS069708,"mitochondrial complex IV deficiency, nuclear type 1 | UMLS ID:C5435656 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 | DOID:0070491 | OMIM ID:185620 | OMIM ID:220110 | mitochondrial complex IV deficiency nuclear type 1 | MONDO:0700250" +BMGC_DS18146,BMG_DS069709,TYPE 1 DIABETES MELLITUS 1 | type 1 diabetes mellitus 1 | OMIM ID:222100 | MONDO:0009100 | UMLS ID:C5435660 +BMGC_DS18147,BMG_DS069710,UMLS ID:C5435677 | PALLISTER-HALL-LIKE SYNDROME | OMIM ID:601500 | OMIM ID:241800 +BMGC_DS18148,BMG_DS069711,"growth hormone insensitivity with immune dysregulation 1, autosomal recessive | DOID:0080836 | GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE | MONDO:0100211 | OMIM ID:604260 | growth hormone insensitivity syndrome with immune dysregulation 1 | UMLS ID:C5435698 | OMIM ID:245590" +BMGC_DS18149,BMG_DS069712,"DOID:0112063 | X-Linked immunodeficiency 74 | IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED | OMIM ID:301051 | UMLS ID:C5435745 | MONDO:0026767 | immunodeficiency 74, COVID-19-related, X-linked" +BMGC_DS18150,BMG_DS069713,"UMLS ID:C5435753 | MONDO:0026777 | Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome | SNOMEDCT ID:1290093003 | OMIM ID:301054 | Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder) | VEXAS syndrome | MeSH ID:C000721467" +BMGC_DS18151,BMG_DS069714,"MONDO:0025622 | UMLS ID:C5435765 | OMIM ID:500013 | Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 | OMIM ID:590105 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL FORM, 1" +BMGC_DS18152,BMG_DS069716,"OMIM ID:605423 | MONDO:0011766 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY | OMIM ID:607080 | UMLS ID:C5436061" +BMGC_DS18153,BMG_DS069718,"OMIM ID:109270 | RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA | renal tubular acidosis, distal, 4, with hemolytic anemia | UMLS ID:C5436235 | OMIM ID:611590 | MONDO:0012700" +BMGC_DS18154,BMG_DS069719,OMIM ID:618007 | OMIM ID:609690 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 | MONDO:0100215 | Rajab interstitial lung disease with brain calcifications 1 | OMIM ID:613658 | UMLS ID:C5436276 +BMGC_DS18155,BMG_DS069720,OMIM ID:613954 | DOID:0060205 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | MONDO:0013501 | UMLS ID:C5436279 | frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | OMIM ID:601023 +BMGC_DS18156,BMG_DS069721,"Xia-Gibbs Syndrome | UMLS ID:C5436345 | OMIM ID:615829 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 25, FORMERLY | DOID:0070055" +BMGC_DS18157,BMG_DS069722,ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 | arthrogryposis multiplex congenita 5 | DOID:0080981 | MONDO:0100218 | OMIM ID:605204 | UMLS ID:C5436453 | OMIM ID:618947 | arthrogryposis multiplex congenita-5 +BMGC_DS18158,BMG_DS069723,Suleiman-El-Hattab syndrome | OMIM ID:618950 | OMIM ID:608270 | SULEIMAN-EL-HATTAB SYNDROME | UMLS ID:C5436458 | MONDO:0033532 +BMGC_DS18159,BMG_DS069724,DOID:0112113 | UMLS ID:C5436461 | MONDO:0033533 | OMIM ID:618951 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 | OMIM ID:602375 | combined oxidative phosphorylation deficiency 45 +BMGC_DS18160,BMG_DS069725,MONDO:0033534 | OMIM ID:618952 | DOID:0112115 | combined oxidative phosphorylation deficiency 46 | OMIM ID:611985 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 | UMLS ID:C5436466 +BMGC_DS18161,BMG_DS069726,DOID:0112114 | MONDO:0033537 | combined oxidative phosphorylation deficiency 47 | OMIM ID:611990 | OMIM ID:618958 | UMLS ID:C5436476 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 +BMGC_DS18162,BMG_DS069727,UMLS ID:C5436498 | OMIM ID:618963 | OMIM ID:147570 | immunodeficiency 69 | IMMUNODEFICIENCY 69 | DOID:0112006 | MONDO:0033541 +BMGC_DS18163,BMG_DS069728,MONDO:0033542 | IMMUNODEFICIENCY 70 | OMIM ID:609209 | DOID:0112005 | OMIM ID:618969 | UMLS ID:C5436501 | immunodeficiency 70 +BMGC_DS18164,BMG_DS069729,"cone-rod synaptic disorder syndrome, congenital nonprogressive | MONDO:0033543 | OMIM ID:606630 | OMIM ID:618970 | CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE | UMLS ID:C5436505" +BMGC_DS18165,BMG_DS069730,OMIM ID:607257 | Tolchin-Le Caignec syndrome | MONDO:0033544 | UMLS ID:C5436509 | TOLCHIN-LE CAIGNEC SYNDROME | OMIM ID:618971 +BMGC_DS18166,BMG_DS069731,MONDO:0033545 | OMIM ID:618972 | OMIM ID:606794 | mitochondrial DNA depletion syndrome 19 | DOID:0070450 | MITOCHONDRIAL DNA DEPLETION SYNDROME 19 | UMLS ID:C5436514 +BMGC_DS18167,BMG_DS069732,"UMLS ID:C5436520 | OMIM ID:618973 | SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFICIENCY | OMIM ID:604024 | neurodegeneration, infantile-onset, biotin-responsive | MONDO:0033546" +BMGC_DS18168,BMG_DS069733,Li-Ghorbani-Weisz-Hubshman syndrome | OMIM ID:609912 | OMIM ID:618974 | UMLS ID:C5436525 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME | MONDO:0033547 +BMGC_DS18169,BMG_DS069734,"congenital myopathy 17 | OMIM ID:618975 | myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies | MONDO:0033548 | DOID:0081349 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES | UMLS ID:C5436530" +BMGC_DS18170,BMG_DS069735,OMIM ID:604581 | OMIM ID:618977 | optic atrophy 12 | DOID:0080840 | MONDO:0033549 | UMLS ID:C5436534 | OPTIC ATROPHY 12 +BMGC_DS18171,BMG_DS069736,OMIM ID:618982 | immunodeficiency 72 | immunodeficiency 72 with autoinflammation | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION AND LYMPHOPROLIFERATION | MONDO:0033551 | UMLS ID:C5436540 | DOID:0112015 | OMIM ID:141180 +BMGC_DS18172,BMG_DS069737,"growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT | OMIM ID:604260 | UMLS ID:C5436546 | DOID:0080837 | MONDO:0100219 | growth hormone insensitivity syndrome with immune dysregulation 2 | OMIM ID:618985" +BMGC_DS18173,BMG_DS069738,MONDO:0033554 | UMLS ID:C5436549 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA | DOID:0112061 | OMIM ID:618986 | immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | OMIM ID:602049 +BMGC_DS18174,BMG_DS069739,DOID:0112062 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA | UMLS ID:C5436550 | immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | OMIM ID:618987 | OMIM ID:602049 | MONDO:0033555 +BMGC_DS18175,BMG_DS069740,"UMLS ID:C5436552 | MONDO:0033556 | DOID:0112376 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 | OMIM ID:605951 | OMIM ID:618992 | muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | muscular dystrophy-dystroglycanopathy type B15" +BMGC_DS18176,BMG_DS069741,"IMMUNE DYSREGULATION AND SYSTEMIC HYPERINFLAMMATION SYNDROME | OMIM ID:609424 | UMLS ID:C5436563 | MONDO:0033557 | OMIM ID:618998 | hemophagocytic lymphohistiocytosis, familial, 6" +BMGC_DS18177,BMG_DS069742,"UMLS ID:C5436572 | OMIM ID:618999 | MONDO:0033558 | OMIM ID:147795 | autoinflammation, immune dysregulation, and eosinophilia | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA" +BMGC_DS18178,BMG_DS069743,OMIM ID:619000 | OMIM ID:611055 | MONDO:0033559 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY | UMLS ID:C5436574 | intellectual developmental disorder with seizures and language delay +BMGC_DS18179,BMG_DS069744,"DOID:0112139 | UMLS ID:C5436576 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 | OMIM ID:619003 | MONDO:0033560 | nuclear type mitochondrial complex I deficiency 35 | mitochondrial complex 1 deficiency, nuclear type 35 | OMIM ID:603843" +BMGC_DS18180,BMG_DS069745,DEEAH SYNDROME | deeah syndrome | UMLS ID:C5436579 | MONDO:0033561 | OMIM ID:619004 | OMIM ID:603584 +BMGC_DS18181,BMG_DS069746,"NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA | UMLS ID:C5436585 | OMIM ID:619005 | neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | MONDO:0033562 | OMIM ID:603584" +BMGC_DS18182,BMG_DS069747,UMLS ID:C5436588 | OMIM ID:619007 | retinitis pigmentosa 90 | DOID:0112147 | OMIM ID:601149 | RETINITIS PIGMENTOSA 90 | MONDO:0033563 +BMGC_DS18183,BMG_DS069748,UMLS ID:C5436597 | MONDO:0033564 | oocyte maturation defect 8 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 8 | OMIM ID:619009 | OMIM ID:605673 +BMGC_DS18184,BMG_DS069749,OMIM ID:604507 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 9 | UMLS ID:C5436599 | MONDO:0033565 | oocyte maturation defect 9 | OMIM ID:619011 +BMGC_DS18185,BMG_DS069750,MONDO:0033566 | DOID:0112112 | OMIM ID:619012 | combined oxidative phosphorylation deficiency 48 | UMLS ID:C5436602 | OMIM ID:617491 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 +BMGC_DS18186,BMG_DS069751,OMIM ID:619013 | OMIM ID:602918 | UMLS ID:C5436603 | Rajab interstitial lung disease with brain calcifications 2 | MONDO:0100220 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 +BMGC_DS18187,BMG_DS069752,OMIM ID:619016 | IFAP syndrome 2 | UMLS ID:C5436607 | IFAP SYNDROME 2 | OMIM ID:184756 | MONDO:0100221 +BMGC_DS18188,BMG_DS069753,DOID:0112110 | MONDO:0033569 | UMLS ID:C5436616 | OMIM ID:615498 | OMIM ID:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 | combined oxidative phosphorylation deficiency 49 +BMGC_DS18189,BMG_DS069754,OMIM ID:611987 | MONDO:0033570 | DOID:0112111 | UMLS ID:C5436623 | OMIM ID:619025 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 | combined oxidative phosphorylation deficiency 50 +BMGC_DS18190,BMG_DS069755,OMIM ID:618994 | neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | OMIM ID:619026 | MONDO:0033613 | OMIM ID:603513 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES | UMLS ID:C5436628 +BMGC_DS18191,BMG_DS069756,"SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE | OMIM ID:619027 | OMIM ID:618994 | hereditary spastic paraplegia 83 | DOID:0112346 | spastic paraplegia 83, autosomal recessive | UMLS ID:C5436637 | MONDO:0033614" +BMGC_DS18192,BMG_DS069757,"MONDO:0033615 | primary coenzyme Q10 deficiency 9 | coenzyme q10 deficiency, primary, 9 | COENZYME Q10 DEFICIENCY, PRIMARY, 9 | OMIM ID:616359 | OMIM ID:619028 | UMLS ID:C5436638 | DOID:0112138" +BMGC_DS18193,BMG_DS069758,"intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES | OMIM ID:612866 | UMLS ID:C5436646 | OMIM ID:619031 | MONDO:0033572" +BMGC_DS18194,BMG_DS069759,VISSERS-BODMER SYNDROME | DOID:0081397 | Vissers-Bodmer syndrome | UMLS ID:C5436647 | MONDO:0033618 | OMIM ID:604917 | OMIM ID:619033 +BMGC_DS18195,BMG_DS069760,"OMIM ID:612866 | MONDO:0033619 | myopathy, epilepsy, and progressive cerebral atrophy | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY | UMLS ID:C5436652 | OMIM ID:619036" +BMGC_DS18196,BMG_DS069761,DOID:0112108 | OMIM ID:619040 | OMIM ID:604126 | myofibrillar myopathy 10 | UMLS ID:C5436656 | MYOFIBRILLAR MYOPATHY 10 | MONDO:0033620 +BMGC_DS18197,BMG_DS069762,MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 | OMIM ID:619041 | monosomy 7 myelodysplasia and leukemia syndrome 2 | UMLS ID:C5436668 | MONDO:0030801 | OMIM ID:610456 +BMGC_DS18198,BMG_DS069763,"UMLS ID:C5436669 | OMIM ID:600287 | OMIM ID:619042 | SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE | MONDO:0033621 | spinal muscular atrophy, infantile, James type" +BMGC_DS18199,BMG_DS069764,OMIM ID:618980 | MONDO:0033622 | OMIM ID:619044 | spermatogenic failure 44 | DOID:0112109 | SPERMATOGENIC FAILURE 44 | UMLS ID:C5436678 +BMGC_DS18200,BMG_DS069765,"UMLS ID:C5436682 | OMIM ID:619046 | DOID:0070492 | mitochondrial complex 4 deficiency, nuclear type 3 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 | mitochondrial complex IV deficiency nuclear type 3 | OMIM ID:602125 | MONDO:0033635" +BMGC_DS18201,BMG_DS069766,"UMLS ID:C5436683 | MONDO:0033636 | mitochondrial complex 4 deficiency, nuclear type 4 | OMIM ID:619048 | mitochondrial complex IV deficiency nuclear type 4 | OMIM ID:603644 | DOID:0070493 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4" +BMGC_DS18202,BMG_DS069767,"DOID:0070494 | OMIM ID:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 | mitochondrial complex IV deficiency nuclear type 7 | OMIM ID:124089 | MONDO:0033637 | UMLS ID:C5436685 | mitochondrial complex 4 deficiency, nuclear type 7" +BMGC_DS18203,BMG_DS069768,"mitochondrial complex IV deficiency nuclear type 8 | OMIM ID:612958 | mitochondrial complex 4 deficiency, nuclear type 8 | OMIM ID:619052 | MONDO:0033638 | UMLS ID:C5436689 | DOID:0070495 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8" +BMGC_DS18204,BMG_DS069769,"UMLS ID:C5436692 | OMIM ID:619053 | MONDO:0033639 | mitochondrial complex 4 deficiency, nuclear type 10 | DOID:0070496 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 | OMIM ID:614478 | mitochondrial complex IV deficiency nuclear type 10" +BMGC_DS18205,BMG_DS069770,"MONDO:0033645 | mitochondrial complex 4 deficiency, nuclear type 11 | OMIM ID:614698 | OMIM ID:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 | DOID:0070497 | mitochondrial complex IV deficiency nuclear type 11 | UMLS ID:C5436694" +BMGC_DS18206,BMG_DS069771,"OMIM ID:619055 | DOID:0070498 | UMLS ID:C5436695 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 | mitochondrial complex 4 deficiency, nuclear type 12 | MONDO:0033646 | mitochondrial complex IV deficiency nuclear type 12 | OMIM ID:614770" +BMGC_DS18207,BMG_DS069772,neurodevelopmental disorder with speech impairment and dysmorphic facies | UMLS ID:C5436699 | MONDO:0033630 | DOID:0070417 | OMIM ID:619056 | OMIM ID:611052 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES +BMGC_DS18208,BMG_DS069773,combined oxidative phosphorylation deficiency 51 | OMIM ID:619057 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 | OMIM ID:614918 | UMLS ID:C5436703 | MONDO:0033631 | DOID:0112137 +BMGC_DS18209,BMG_DS069774,"mitochondrial complex 4 deficiency, nuclear type 14 | DOID:0070499 | OMIM ID:619058 | MONDO:0033649 | mitochondrial complex IV deficiency nuclear type 14 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 | OMIM ID:614775 | UMLS ID:C5436710" +BMGC_DS18210,BMG_DS069775,"DOID:0070500 | UMLS ID:C5436712 | OMIM ID:619059 | mitochondrial complex 4 deficiency, nuclear type 15 | OMIM ID:123870 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 | mitochondrial complex IV deficiency nuclear type 15 | MONDO:0033650" +BMGC_DS18211,BMG_DS069776,"mitochondrial complex 4 deficiency, nuclear type 16 | UMLS ID:C5436714 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 | mitochondrial complex IV deficiency nuclear type 16 | OMIM ID:123864 | MONDO:0033651 | OMIM ID:619060 | DOID:0070501" +BMGC_DS18212,BMG_DS069777,"UMLS ID:C5436718 | OMIM ID:619061 | DOID:0070502 | MONDO:0033652 | OMIM ID:616003 | mitochondrial complex IV deficiency nuclear type 17 | mitochondrial complex 4 deficiency, nuclear type 17 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17" +BMGC_DS18213,BMG_DS069778,"mitochondrial complex IV deficiency nuclear type 18 | UMLS ID:C5436720 | DOID:0070503 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 | mitochondrial complex 4 deficiency, nuclear type 18 | OMIM ID:619062 | MONDO:0033653 | OMIM ID:602009" +BMGC_DS18214,BMG_DS069779,"DOID:0070504 | mitochondrial complex IV deficiency nuclear type 19 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 | OMIM ID:614771 | mitochondrial complex 4 deficiency, nuclear type 19 | OMIM ID:619063 | MONDO:0033654 | UMLS ID:C5436723" +BMGC_DS18215,BMG_DS069780,"mitochondrial complex 4 deficiency, nuclear type 20 | DOID:0070505 | OMIM ID:603773 | UMLS ID:C5436726 | mitochondrial complex IV deficiency nuclear type 20 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 | OMIM ID:619064 | MONDO:0033655" +BMGC_DS18216,BMG_DS069781,"OMIM ID:619065 | DOID:0070506 | mitochondrial complex IV deficiency nuclear type 21 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 | OMIM ID:603833 | mitochondrial complex 4 deficiency, nuclear type 21 | MONDO:0033656 | UMLS ID:C5436727" +BMGC_DS18217,BMG_DS069782,"UMLS ID:C5436730 | OMIM ID:619071 | DOID:0112153 | OMIM ID:123830 | hypomyelinating leukodystrophy 20 | leukodystrophy, hypomyelinating, 20 | LEUKODYSTROPHY, HYPOMYELINATING, 20 | MONDO:0033657" +BMGC_DS18218,BMG_DS069783,MONDO:0033658 | neurodevelopmental disorder with seizures and brain atrophy | OMIM ID:619072 | OMIM ID:608163 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY | UMLS ID:C5436732 +BMGC_DS18219,BMG_DS069784,"OMIM ID:619073 | MONDO:0033640 | VITAMIN D-DEPENDENT RICKETS, TYPE 3 | UMLS ID:C5436733 | vitamin D-dependent rickets, type 3 | OMIM ID:124010" +BMGC_DS18220,BMG_DS069785,"cleft palate, proliferative retinopathy, and developmental delay | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY | UMLS ID:C5436739 | MONDO:0033641 | OMIM ID:619074 | OMIM ID:137207" +BMGC_DS18221,BMG_DS069786,"Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder) | neurodevelopmental disorder with alopecia and brain abnormalities | SNOMEDCT ID:1222658006 | OMIM ID:619075 | MONDO:0033642 | UMLS ID:C5436741 | Bachmann Bupp syndrome | Ornithine decarboxylase deficiency" +BMGC_DS18222,BMG_DS069787,"UMLS ID:C5436747 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY | MONDO:0033662 | neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | OMIM ID:619076 | OMIM ID:615283" +BMGC_DS18223,BMG_DS069788,inflammatory bowel disease 30 | OMIM ID:619079 | DOID:0112154 | MONDO:0033643 | UMLS ID:C5436750 | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 | OMIM ID:609051 +BMGC_DS18224,BMG_DS069789,KILQUIST SYNDROME | MONDO:0033664 | UMLS ID:C5436756 | OMIM ID:600840 | OMIM ID:619080 | Kilquist syndrome +BMGC_DS18225,BMG_DS069790,"MONDO:0033665 | UMLS ID:C5436768 | DOID:0112159 | OMIM ID:600840 | OMIM ID:619081 | hearing loss, autosomal dominant 78 | autosomal dominant nonsyndromic deafness 78 | DEAFNESS, AUTOSOMAL DOMINANT 78" +BMGC_DS18226,BMG_DS069791,"OMIM ID:601175 | microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 | UMLS ID:C5436769 | MONDO:0033644 | MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1 | OMIM ID:619082" +BMGC_DS18227,BMG_DS069792,OMIM ID:600840 | Delpire-McNeill syndrome | DELPIRE-MCNEILL SYNDROME | MONDO:0033667 | OMIM ID:619083 | UMLS ID:C5436771 +BMGC_DS18228,BMG_DS069793,"UMLS ID:C5436772 | DOID:0112160 | OMIM ID:619086 | OMIM ID:608370 | autosomal dominant nonsyndromic deafness 79 | MONDO:0033668 | DEAFNESS, AUTOSOMAL DOMINANT 79 | hearing loss, autosomal dominant 79" +BMGC_DS18229,BMG_DS069794,OMIM ID:176948 | OMIM ID:619087 | DOID:0112161 | MONDO:0033669 | Noonan syndrome 13 | UMLS ID:C5436773 | NOONAN SYNDROME 13 +BMGC_DS18230,BMG_DS069795,"developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | UMLS ID:C5436781 | MONDO:0030835 | DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY | OMIM ID:619090 | OMIM ID:616661" +BMGC_DS18231,BMG_DS069796,"neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | OMIM ID:108410 | UMLS ID:C5436783 | OMIM ID:619091 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES | MONDO:0100348" +BMGC_DS18232,BMG_DS069797,"OMIM ID:108410 | neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES | MONDO:0030837 | UMLS ID:C5436788 | OMIM ID:619092" +BMGC_DS18233,BMG_DS069798,"UMLS ID:C5436789 | MONDO:0033670 | autosomal recessive nonsyndromic deafness 116 | hearing loss, autosomal recessive 116 | OMIM ID:619093 | DOID:0112162 | OMIM ID:615799 | DEAFNESS, AUTOSOMAL RECESSIVE 116" +BMGC_DS18234,BMG_DS069799,OMIM ID:619094 | MONDO:0033671 | spermatogenic failure 45 | UMLS ID:C5436791 | SPERMATOGENIC FAILURE 45 | OMIM ID:603333 | DOID:0112163 +BMGC_DS18235,BMG_DS069800,DOID:0112164 | SPERMATOGENIC FAILURE 46 | MONDO:0033673 | OMIM ID:619095 | spermatogenic failure 46 | UMLS ID:C5436799 | OMIM ID:603337 +BMGC_DS18236,BMG_DS069801,OMIM ID:619096 | MeSH ID:C536928 | mismatch repair cancer syndrome 2 | UMLS ID:C5436806 | MONDO:0030840 +BMGC_DS18237,BMG_DS069802,MeSH ID:C536928 | MONDO:0030841 | UMLS ID:C5436807 | mismatch repair cancer syndrome 3 | OMIM ID:619097 +BMGC_DS18238,BMG_DS069803,OMIM ID:608378 | intellectual developmental disorder with speech delay and axonal peripheral neuropathy | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY | UMLS ID:C5436813 | OMIM ID:619099 | MONDO:0030849 +BMGC_DS18239,BMG_DS069804,MeSH ID:C536928 | MONDO:0030843 | UMLS ID:C5436817 | OMIM ID:619101 | mismatch repair cancer syndrome 4 +BMGC_DS18240,BMG_DS069805,OMIM ID:619102 | spermatogenic failure 47 | MONDO:0030844 | OMIM ID:608671 | DOID:0112175 | UMLS ID:C5436818 | SPERMATOGENIC FAILURE 47 +BMGC_DS18241,BMG_DS069806,"OMIM ID:601409 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES | UMLS ID:C5436821 | OMIM ID:619103 | neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | MONDO:0030852" +BMGC_DS18242,BMG_DS069807,spermatogenic failure 48 | SPERMATOGENIC FAILURE 48 | OMIM ID:619098 | DOID:0112176 | OMIM ID:619108 | UMLS ID:C5436823 | MONDO:0030846 +BMGC_DS18243,BMG_DS069808,"OMIM ID:619110 | arthrogryposis, distal, type 1C | DOID:0112190 | distal arthrogryposis type 1C | OMIM ID:617378 | ARTHROGRYPOSIS, DISTAL, TYPE 1C | MONDO:0030847 | UMLS ID:C5436834" +BMGC_DS18244,BMG_DS069809,COACH syndrome 2 | COACH SYNDROME 2 | UMLS ID:C5436837 | OMIM ID:619111 | MONDO:0030859 | OMIM ID:612013 +BMGC_DS18245,BMG_DS069810,"autosomal dominant distal hereditary motor neuronopathy 13 | OMIM ID:619112 | MONDO:0030860 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13 | UMLS ID:C5436838 | OMIM ID:606158 | neuronopathy, distal hereditary motor, type 5C | DOID:0081401" +BMGC_DS18246,BMG_DS069811,UMLS ID:C5436841 | OMIM ID:610937 | MONDO:0030862 | COACH SYNDROME 3 | OMIM ID:619113 | COACH syndrome 3 +BMGC_DS18247,BMG_DS069812,OMIM ID:120150 | combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 | OMIM ID:619115 | UMLS ID:C5436842 | MONDO:0030854 +BMGC_DS18248,BMG_DS069813,COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 | OMIM ID:619120 | combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | MONDO:0030855 | OMIM ID:120160 | UMLS ID:C5436847 +BMGC_DS18249,BMG_DS069814,"NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES | MONDO:0030866 | OMIM ID:138450 | neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | OMIM ID:619121 | DOID:0070543 | UMLS ID:C5436848" +BMGC_DS18250,BMG_DS069815,vertebral hypersegmentation and orofacial anomalies | OMIM ID:603936 | UMLS ID:C5436851 | DOID:0070418 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES | OMIM ID:619122 | MONDO:0030871 +BMGC_DS18251,BMG_DS069816,CARDIOFACIONEURODEVELOPMENTAL SYNDROME | cardiofacioneurodevelopmental syndrome | MONDO:0030873 | OMIM ID:619123 | UMLS ID:C5436852 | OMIM ID:618941 +BMGC_DS18252,BMG_DS069817,OMIM ID:619124 | DOID:0112223 | UMLS ID:C5436853 | OMIM ID:605363 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 | MONDO:0030856 | developmental and epileptic encephalopathy 89 +BMGC_DS18253,BMG_DS069818,KAYA-BARAKAT-MASSON SYNDROME | Kaya-Barakat-Masson syndrome | OMIM ID:619109 | OMIM ID:619125 | MONDO:0030878 | UMLS ID:C5436856 +BMGC_DS18254,BMG_DS069819,immunodeficiency 75 | MONDO:0030858 | IMMUNODEFICIENCY 75 WITH LYMPHOPROLIFERATION | OMIM ID:612839 | OMIM ID:619126 | UMLS ID:C5436860 +BMGC_DS18255,BMG_DS069820,UMLS ID:C5436867 | OMIM ID:608555 | OMIM ID:619127 | mandibuloacral dysplasia progeroid syndrome | MONDO:0030880 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME +BMGC_DS18256,BMG_DS069821,OMIM ID:606238 | THROMBOCYTOPENIA 7 | UMLS ID:C5436874 | thrombocytopenia 7 | MONDO:0030867 | OMIM ID:619130 +BMGC_DS18257,BMG_DS069822,"OMIM ID:609024 | DOID:0112201 | osteogenesis imperfecta type 21 | OMIM ID:619131 | MONDO:0030861 | osteogenesis imperfecta, type 21 | UMLS ID:C5436875 | OSTEOGENESIS IMPERFECTA, TYPE XXI" +BMGC_DS18258,BMG_DS069823,OMIM ID:605018 | MONDO:0030872 | UMLS ID:C5436881 | frontotemporal dementia and/or amyotrophic lateral sclerosis 8 | OMIM ID:619132 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 +BMGC_DS18259,BMG_DS069824,amyotrophic lateral sclerosis type 26 | AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | MONDO:0030885 | DOID:0081380 | OMIM ID:603518 | OMIM ID:619133 | UMLS ID:C5436882 +BMGC_DS18260,BMG_DS069825,OMIM ID:618981 | Ritscher-Schinzel syndrome 3 | UMLS ID:C5436883 | OMIM ID:619135 | MONDO:0030864 | RITSCHER-SCHINZEL SYNDROME 3 +BMGC_DS18261,BMG_DS069826,OMIM ID:619141 | frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | UMLS ID:C5436884 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 | OMIM ID:600227 | MONDO:0030875 +BMGC_DS18262,BMG_DS069827,CARDIOACROFACIAL DYSPLASIA 1 | MONDO:0030876 | cardioacrofacial dysplasia 1 | UMLS ID:C5436885 | OMIM ID:601639 | OMIM ID:619142 +BMGC_DS18263,BMG_DS069828,cardioacrofacial dysplasia 2 | MONDO:0030877 | OMIM ID:619143 | CARDIOACROFACIAL DYSPLASIA 2 | UMLS ID:C5436886 | OMIM ID:176892 +BMGC_DS18264,BMG_DS069829,SPERMATOGENIC FAILURE 49 | spermatogenic failure 49 | OMIM ID:619129 | DOID:0112271 | OMIM ID:619144 | UMLS ID:C5436887 | MONDO:0030868 +BMGC_DS18265,BMG_DS069830,spermatogenic failures 50 | DOID:0112272 | UMLS ID:C5436888 | MONDO:0030869 | SPERMATOGENIC FAILURE 50 | OMIM ID:600375 | OMIM ID:619145 | spermatogenic failure 50 +BMGC_DS18266,BMG_DS069831,UMLS ID:C5436889 | premature ovarian failure 17 | DOID:0080874 | primary ovarian insufficiency 17 | OMIM ID:619146 | MONDO:0030870 | PREMATURE OVARIAN FAILURE 17 | OMIM ID:600375 +BMGC_DS18267,BMG_DS069832,chromosome 13q33-q34 deletion syndrome | MONDO:0030896 | CHROMOSOME 13q33-q34 DELETION SYNDROME | OMIM ID:619148 | UMLS ID:C5436890 +BMGC_DS18268,BMG_DS069833,OMIM ID:606229 | LESSEL-KREIENKAMP SYNDROME | MONDO:0030897 | OMIM ID:619149 | Lessel-Kreienkamp syndrome | UMLS ID:C5436892 +BMGC_DS18269,BMG_DS069834,intellectual developmental disorder with paroxysmal dyskinesia or seizures | UMLS ID:C5436894 | MONDO:0030900 | OMIM ID:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES | OMIM ID:602658 +BMGC_DS18270,BMG_DS069836,"AMeD syndrome | MONDO:0030894 | AMeD (aplastic anemia, intellectual disability, dwarfism) syndrome | Aplastic anaemia, intellectual disability, dwarfism syndrome | Aplastic anemia, intellectual disability, dwarfism syndrome | AMED syndrome, digenic | UMLS ID:C5436906 | OMIM ID:619151 | Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) | SNOMEDCT ID:1332385000 | AMeD (aplastic anaemia, intellectual disability, dwarfism) syndrome" +BMGC_DS18271,BMG_DS069837,"OMIM ID:619155 | NEPHROTIC SYNDROME, TYPE 22 | DOID:0112268 | UMLS ID:C5436909 | nephrotic syndrome type 22 | nephrotic syndrome, type 22 | OMIM ID:605551 | MONDO:0030895" +BMGC_DS18272,BMG_DS069838,UMLS ID:C5436914 | neurodevelopmental disorder with or without early-onset generalized epilepsy | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY | MONDO:0030930 | OMIM ID:619157 +BMGC_DS18273,BMG_DS069839,DOID:0070467 | UMLS ID:C5436916 | carpal tunnel syndrome 2 | OMIM ID:619161 | MONDO:0030883 | OMIM ID:600310 | CARPAL TUNNEL SYNDROME 2 +BMGC_DS18274,BMG_DS069840,OCA8 - oculocutaneous albinism type 8 | UMLS ID:C5436929 | OMIM ID:619165 | MONDO:0030899 | SNOMEDCT ID:1300116006 | oculocutaneous albinism type 8 | Oculocutaneous albinism type 8 | Oculocutaneous albinism type 8 (disorder) +BMGC_DS18275,BMG_DS069841,"mitochondrial complex 2 deficiency, nuclear type 2 | OMIM ID:612848 | MONDO:0030935 | UMLS ID:C5436933 | OMIM ID:619166 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2" +BMGC_DS18276,BMG_DS069842,"MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 | mitochondrial complex 2 deficiency, nuclear type 3 | MONDO:0030937 | OMIM ID:602690 | UMLS ID:C5436934 | OMIM ID:619167" +BMGC_DS18277,BMG_DS069843,"MONDO:0030902 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 | UMLS ID:C5436935 | OMIM ID:603845 | mitochondrial complex 1 deficiency, nuclear type 36 | OMIM ID:619170" +BMGC_DS18278,BMG_DS069844,OMIM ID:619172 | HERMANSKY-PUDLAK SYNDROME 11 | MONDO:0030903 | UMLS ID:C5436936 | Hermansky-Pudlak syndrome 11 | OMIM ID:607289 +BMGC_DS18279,BMG_DS069845,"UMLS ID:C5436937 | DEAFNESS, AUTOSOMAL RECESSIVE 117 | MONDO:0030905 | OMIM ID:618988 | OMIM ID:619174 | hearing loss, autosomal recessive 117" +BMGC_DS18280,BMG_DS069846,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 10 | UMLS ID:C5436938 | MONDO:0030925 | oocyte maturation defect 10 | OMIM ID:618421 | OMIM ID:619176 +BMGC_DS18281,BMG_DS069861,"UMLS ID:C5436962 | DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | MONDO:0013159 | OMIM ID:613155 | muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 | OMIM ID:607423" +BMGC_DS18282,BMG_DS069995,MONDO:0019264 | Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) | SNOMEDCT ID:880066000 | Alpha-N-acetylgalactosaminidase deficiency type 3 | UMLS ID:C5437471 | alpha-N-acetylgalactosaminidase deficiency type 3 | NAGA (alpha-N-acetylgalactosaminidase) deficiency type 3 | Schindler disease type 3 +BMGC_DS18283,BMG_DS070023,Contact dermatitis caused by urushiol from poison oak (disorder) | UMLS ID:C5437556 | SNOMEDCT ID:200824008 | Contact dermatitis caused by poison oak | Contact dermatitis caused by urushiol from poison oak +BMGC_DS18284,BMG_DS070042,Blepharophimosis epicanthus inversus ptosis syndrome plus | Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | 3q23 microdeletion syndrome | MONDO:0035521 | SNOMEDCT ID:890180006 | UMLS ID:C5437588 | BPES (blepharophimosis epicanthus inversus ptosis syndrome) plus | blepharophimosis-ptosis-epicanthus inversus syndrome plus +BMGC_DS18285,BMG_DS070045,"malignant hyperthermia, susceptibility to | MONDO:0800188 | UMLS ID:C5437603" +BMGC_DS18286,BMG_DS070052,Mowat-Wilson syndrome due to monosomy 2q22 (disorder) | UMLS ID:C5437617 | Mowat-Wilson syndrome due to 2q22 microdeletion | MONDO:0016855 | 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 | Hirschsprung disease and intellectual disability due to del(2)(q22) | Hirschsprung disease and intellectual disability due to monosomy 2q22 | SNOMEDCT ID:890118006 +BMGC_DS18287,BMG_DS070067,autosomal recessive epidermolytic ichthyosis | MONDO:0044742 | SNOMEDCT ID:890235002 | Autosomal recessive epidermolytic ichthyosis | Autosomal recessive epidermolytic ichthyosis (disorder) | UMLS ID:C5437635 +BMGC_DS18288,BMG_DS070144,complete cryptophthalmia | UMLS ID:C5437887 | MONDO:0020360 +BMGC_DS18289,BMG_DS070240,6q16 deletion syndrome | 6q16 microdeletion syndrome (disorder) | 6q16 microdeletion syndrome | SNOMEDCT ID:1003380001 | Prader-Willi-like syndrome due to microdeletion 6q16 | UMLS ID:C5438727 | MONDO:0015749 | Obesity due to 6q16 deletion +BMGC_DS18290,BMG_DS070248,SNOMEDCT ID:1003877009 | UMLS ID:C5438812 | MONDO:0019659 | Pfeiffer syndrome type 1 (disorder) | Pfeiffer syndrome type 1 +BMGC_DS18291,BMG_DS070249,Pelizaeus-Merzbacher disease in female carrier | Pelizaeus-Merzbacher disease in female carriers | MONDO:0017224 | SNOMEDCT ID:1003881009 | Pelizaeus-Merzbacher disease in female carrier (disorder) | UMLS ID:C5438815 +BMGC_DS18292,BMG_DS070250,Pfeiffer syndrome type 2 | SNOMEDCT ID:1003916008 | MONDO:0019660 | Pfeiffer syndrome type 2 (disorder) | UMLS ID:C5438849 +BMGC_DS18293,BMG_DS070251,MONDO:0019661 | Pfeiffer syndrome type 3 (disorder) | UMLS ID:C5438850 | SNOMEDCT ID:1003918009 | Pfeiffer syndrome type 3 +BMGC_DS18294,BMG_DS070281,UMLS ID:C5438974 | Leydig cell hypoplasia due to complete LH resistance | SNOMEDCT ID:1003437009 | Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation | 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 | MONDO:0019930 +BMGC_DS18295,BMG_DS070282,Leydig cell hypoplasia due to partial luteinising hormone receptor inactivation | SNOMEDCT ID:1003438004 | Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation | MONDO:0019931 | Leydig cell hypoplasia due to partial LH resistance | Leydig cell hypoplasia due to partial LH receptor inactivation | Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation (disorder) | UMLS ID:C5438975 +BMGC_DS18296,BMG_DS070333,UMLS ID:C5439212 | SNOMEDCT ID:1010666007 | Autosomal recessive Stickler syndrome | Stickler syndrome type 4 | Stickler syndrome type 4 (disorder) +BMGC_DS18297,BMG_DS070379,Null syndrome | Pelizaeus-Merzbacher disease null syndrome (disorder) | PLP1 null syndrome | SNOMEDCT ID:1003447007 | UMLS ID:C5439441 | null syndrome | MONDO:0017225 | Pelizaeus-Merzbacher disease null syndrome +BMGC_DS18298,BMG_DS070407,Intestinal Pseudo-Obstruction | MeSH ID:D007418 | Enteric Neuropathy | UMLS ID:C5441716 +BMGC_DS18299,BMG_DS070408,UMLS ID:C5441717 | congenital short bowel syndrome | Congenital short bowel syndrome (disorder) | Congenital short bowel syndrome | MONDO:0014097 | SNOMEDCT ID:715201005 +BMGC_DS18300,BMG_DS070410,interstitial lung disease | MONDO:0015925 | UMLS ID:C5441745 +BMGC_DS18301,BMG_DS070412,"OMIM ID:270420 | congenital secretory sodium diarrhea 3 | MeSH ID:C562576 | UMLS ID:C5441927 | Diarrhea 3, Secretory Sodium, Congenital | MONDO:0010036" +BMGC_DS18302,BMG_DS070413,"UMLS ID:C5441928 | OMIM ID:182307 | DIARRHEA 8, SECRETORY SODIUM, CONGENITAL | congenital secretory sodium diarrhea 8 | MONDO:0014808 | OMIM ID:616868" +BMGC_DS18303,BMG_DS070415,UMLS ID:C5442005 | Warburg micro syndrome (disorder) | MONDO:0016649 | Micro syndrome | SNOMEDCT ID:772224009 | Warburg micro syndrome +BMGC_DS18304,BMG_DS070416,Congenital pontocerebellar hypoplasia type 1 | Congenital pontocerebellar hypoplasia type 1 (disorder) | Pontocerebellar hypoplasia type 1 | pontocerebellar hypoplasia type 1 | SNOMEDCT ID:718610008 | Norman disease | PCH1 - pontocerebellar hypoplasia type 1 | UMLS ID:C5442006 | MONDO:0016396 +BMGC_DS18305,BMG_DS070417,"OMIM ID:607759 | UMLS ID:C5442010 | BLEEDING DISORDER, PLATELET-TYPE, 16 | OMIM ID:187800 | platelet-type bleeding disorder 16 | MONDO:0008552" +BMGC_DS18306,BMG_DS070418,"OTOFACIOCERVICAL SYNDROME 2, WITH T-CELL DEFICIENCY | MONDO:0014254 | otofaciocervical syndrome 2 | OMIM ID:615560 | UMLS ID:C5442121" +BMGC_DS18307,BMG_DS070420,MeSH ID:D000082182 | UMLS ID:C5442191 | Clonal Cytopenia of Undetermined Significance +BMGC_DS18308,BMG_DS070425,DOID:0081442 | OMIM ID:600014 | blepharophimosis-impaired intellectual development syndrome | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | OMIM ID:619293 | UMLS ID:C5443984 | MONDO:0859139 +BMGC_DS18309,BMG_DS070426,MONDO:0007788 | UMLS ID:C5444012 | OMIM ID:145750 | HYPERTRIGLYCERIDEMIA 1 | hypertriglyceridemia 1 +BMGC_DS18310,BMG_DS070427,DOID:0112370 | Coffin-Siris syndrome 12 | MONDO:0025699 | OMIM ID:605690 | OMIM ID:619325 | UMLS ID:C5444111 | COFFIN-SIRIS SYNDROME 12 +BMGC_DS18311,BMG_DS070428,"UMLS ID:C5444223 | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE | OMIM ID:619332 | MONDO:0859156 | OMIM ID:619345 | dysostosis multiplex, Ain-Naz type" +BMGC_DS18312,BMG_DS070429,"UMLS ID:C5444224 | inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive | MONDO:0030314 | INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE | OMIM ID:619398" +BMGC_DS18313,BMG_DS070430,UMLS ID:C5444410 | Dentinogenesis Imperfecta | MeSH ID:D003811 | Dentinogenesis Imperfecta 1 +BMGC_DS18314,BMG_DS070435,juvenile polyposis of infancy | MONDO:0019190 | UMLS ID:C5445164 +BMGC_DS18315,BMG_DS070442,MONDO:0028226 | autosomal recessive severe congenital neutropenia | UMLS ID:C5447331 +BMGC_DS18316,BMG_DS070444,SNOMEDCT ID:1229872004 | Xq25 microtriplication | Xq25 microduplication syndrome (disorder) | Xq25 microduplication syndrome | UMLS ID:C5447842 +BMGC_DS18317,BMG_DS070445,lacrimal gland squamous cell carcinoma | DOID:5529 | UMLS ID:C5447980 +BMGC_DS18318,BMG_DS070503,UMLS ID:C5539786 | Primary Vesicoureteral Reflux | MeSH ID:D014718 | Vesico-Ureteral Reflux +BMGC_DS18319,BMG_DS070504,OMIM ID:115000 | UMLS ID:C5542154 | MONDO:0020745 | VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME | OMIM ID:180902 | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +BMGC_DS18320,BMG_DS070505,UMLS ID:C5542181 | MONDO:0007777 | HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY | hypotaurinemic retinal degeneration and cardiomyopathy | OMIM ID:145350 | OMIM ID:186854 +BMGC_DS18321,BMG_DS070506,VISCERAL MYOPATHY 1 | MONDO:0020754 | OMIM ID:102545 | visceral myopathy 1 | UMLS ID:C5542197 | OMIM ID:155310 +BMGC_DS18322,BMG_DS070507,ODONTOCHONDRODYSPLASIA 1 | odontochondrodysplasia 1 | OMIM ID:184260 | UMLS ID:C5542277 | OMIM ID:604505 | MONDO:0100325 +BMGC_DS18323,BMG_DS070508,OMIM ID:193670 | WHIM SYNDROME 1 | WHIM syndrome 1 | MONDO:8000006 | UMLS ID:C5542296 | OMIM ID:162643 +BMGC_DS18324,BMG_DS070509,Martsolf syndrome 1 | MARTSOLF SYNDROME 1 | OMIM ID:609275 | UMLS ID:C5542298 | OMIM ID:212720 | MONDO:8000008 +BMGC_DS18325,BMG_DS070510,OMIM ID:600922 | megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 1 | MONDO:0100354 | OMIM ID:249210 | UMLS ID:C5542316 +BMGC_DS18326,BMG_DS070511,"OMIM ID:300713 | UMLS ID:C5542341 | multiple congenital anomalies-neurodevelopmental syndrome, X-linked | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED | OMIM ID:301056 | MONDO:0025351" +BMGC_DS18327,BMG_DS070512,"developmental and epileptic encephalopathy, 90 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 | OMIM ID:300070 | OMIM ID:301058 | MONDO:0025353 | DOID:0070381 | developmental and epileptic encephalopathy 90 | UMLS ID:C5542345" +BMGC_DS18328,BMG_DS070513,"OMIM ID:301057 | X-linked spermatogenic failure 3 | SPERMATOGENIC FAILURE, X-LINKED, 3 | DOID:0112274 | spermatogenic failure, X-linked, 3 | OMIM ID:301059 | MONDO:0025354 | UMLS ID:C5542347" +BMGC_DS18329,BMG_DS070514,"UMLS ID:C5542351 | MONDO:0025356 | AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS | azoospermia, obstructive, with nephrolithiasis | OMIM ID:301060 | OMIM ID:300520" +BMGC_DS18330,BMG_DS070516,"MONDO:0031446 | OMIM ID:607748 | UMLS ID:C5542604 | OMIM ID:607709 | hypercholanemia, familial 1 | HYPERCHOLANEMIA, FAMILIAL 1" +BMGC_DS18331,BMG_DS070517,OLMSTED SYNDROME 1 | DOID:0112013 | autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques | MONDO:0100296 | Olmsted syndrome 1 | OMIM ID:614594 | OMIM ID:607066 | UMLS ID:C5542829 +BMGC_DS18332,BMG_DS070518,"UMLS ID:C5542952 | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 | OMIM ID:112261 | OMIM ID:617877 | DOID:0060989 | MONDO:0100297" +BMGC_DS18333,BMG_DS070519,"leukoencephalopathy, progressive, infantile-onset, with or without deafness | OMIM ID:619147 | UMLS ID:C5542996 | MONDO:0030893 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS" +BMGC_DS18334,BMG_DS070520,OMIM ID:613437 | immunodeficiency 76 | MONDO:0030898 | IMMUNODEFICIENCY 76 | OMIM ID:619164 | UMLS ID:C5543004 +BMGC_DS18335,BMG_DS070521,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES | OMIM ID:602726 | neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities | MONDO:0030947 | UMLS ID:C5543020 | OMIM ID:619173" +BMGC_DS18336,BMG_DS070522,OMIM ID:176847 | DOID:0060919 | proteosome-associated autoinflammatory syndrome 5 | proteasome-associated autoinflammatory syndrome 5 | MONDO:0030924 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 | UMLS ID:C5543027 | OMIM ID:619175 +BMGC_DS18337,BMG_DS070523,SPERMATOGENIC FAILURE 51 | DOID:0112273 | spermatogenic failure 51 | OMIM ID:619177 | UMLS ID:C5543033 | MONDO:0030926 | OMIM ID:609910 +BMGC_DS18338,BMG_DS070524,OMIM ID:611220 | UMLS ID:C5543038 | DOID:0081338 | MYOFIBRILLAR MYOPATHY 11 | myofibrillar myopathy 11 | MONDO:0030927 | OMIM ID:619178 +BMGC_DS18339,BMG_DS070525,"microcephaly 26, primary, autosomal dominant | MONDO:0030928 | OMIM ID:150340 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT | UMLS ID:C5543048 | OMIM ID:619179" +BMGC_DS18340,BMG_DS070526,"OMIM ID:150341 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT | microcephaly 27, primary, autosomal dominant | UMLS ID:C5543051 | OMIM ID:619180 | MONDO:0030929" +BMGC_DS18341,BMG_DS070527,proteasome-associated autoinflammatory syndrome 4 | OMIM ID:609702 | MONDO:0030931 | DOID:0060915 | OMIM ID:619183 | proteosome-associated autoinflammatory syndrome 4 | UMLS ID:C5543053 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 +BMGC_DS18342,BMG_DS070528,"OMIM ID:619184 | UMLS ID:C5543057 | MONDO:0030953 | OMIM ID:614708 | DOID:0112358 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" +BMGC_DS18343,BMG_DS070529,Joubert syndrome 37 | UMLS ID:C5543064 | OMIM ID:617618 | JOUBERT SYNDROME 37 | MONDO:0030933 | OMIM ID:619185 +BMGC_DS18344,BMG_DS070530,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 | UMLS ID:C5543067 | MONDO:0030934 | intellectual developmental disorder, autosomal dominant 64 | OMIM ID:616213 | OMIM ID:619188" +BMGC_DS18345,BMG_DS070531,UMLS ID:C5543068 | OMIM ID:619189 | Li-Campeau syndrome | LI-CAMPEAU SYNDROME | MONDO:0030963 | OMIM ID:613816 +BMGC_DS18346,BMG_DS070532,"OMIM ID:619192 | MONDO:0030936 | EPILEPSY, PROGRESSIVE MYOCLONIC, 12 | UMLS ID:C5543069 | OMIM ID:619191 | epilepsy, progressive myoclonic, 12" +BMGC_DS18347,BMG_DS070533,NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS | OMIM ID:619194 | neurofacioskeletal syndrome with or without renal agenesis | MONDO:0030966 | UMLS ID:C5543070 +BMGC_DS18348,BMG_DS070534,"deafness, congenital, and adult-onset progressive leukoencephalopathy | OMIM ID:619196 | OMIM ID:601421 | MONDO:0030967 | UMLS ID:C5543087 | DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY" +BMGC_DS18349,BMG_DS070536,"MONDO:0030962 | nephrotic syndrome, type 23 | OMIM ID:607428 | NEPHROTIC SYNDROME, TYPE 23 | OMIM ID:619201 | UMLS ID:C5543092 | DOID:0112266 | nephrotic syndrome type 23" +BMGC_DS18350,BMG_DS070537,SPERMATOGENIC FAILURE 52 | UMLS ID:C5543094 | OMIM ID:617307 | spermatogenic failure 52 | DOID:0112270 | MONDO:0030938 | OMIM ID:619202 +BMGC_DS18351,BMG_DS070538,OMIM ID:617307 | PREMATURE OVARIAN FAILURE 18 | premature ovarian failure 18 | OMIM ID:619203 | UMLS ID:C5543095 | MONDO:0030939 | DOID:0112269 | primary ovarian insufficiency 18 +BMGC_DS18352,BMG_DS070539,MONDO:0030961 | Olmsted syndrome 2 | OLMSTED SYNDROME 2 | UMLS ID:C5543096 | OMIM ID:619208 | OMIM ID:609301 +BMGC_DS18353,BMG_DS070540,UMLS ID:C5543106 | OMIM ID:609301 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 | OMIM ID:619209 | MONDO:0030941 | erythrokeratodermia variabilis et progressiva 7 +BMGC_DS18354,BMG_DS070541,OCULOMOTOR-ABDUCENS SYNKINESIS | MONDO:0030976 | oculomotor-abducens synkinesis | UMLS ID:C5543116 | OMIM ID:619215 | OMIM ID:610376 +BMGC_DS18355,BMG_DS070542,"autosomal recessive distal hereditary motor neuronopathy 7 | DOID:0081426 | neuronopathy, distal hereditary motor, autosomal recessive 7 | UMLS ID:C5543119 | MONDO:0030977 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 7 | OMIM ID:611901 | OMIM ID:619216" +BMGC_DS18356,BMG_DS070543,"MONDO:0030978 | ENDOVE SYNDROME, LIMB-ONLY TYPE | ENDOVE syndrome, limb-only type | UMLS ID:C5543128 | OMIM ID:619217" +BMGC_DS18357,BMG_DS070544,"UMLS ID:C5543142 | ENDOVE syndrome, limb-brain type | ENDOVE SYNDROME, LIMB-BRAIN TYPE | MONDO:0030979 | OMIM ID:131290 | OMIM ID:619218" +BMGC_DS18358,BMG_DS070545,"TPPII (tripeptidyl-peptidase II) deficiency | SNOMEDCT ID:1222681008 | OMIM ID:619220 | TPPII-related immunodeficiency, autoimmunity and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease | Autoimmune haemolytic anaemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome | Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome | MONDO:0030971 | Evans syndrome associated with primary immunodeficiency | Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder) | TRIANGLE (TPPII-related immunodeficiency, autoimmunity, neurodevelopmental delay, impaired glycolysis, lysosomal expansion) disease | UMLS ID:C5543159 | Tripeptidyl-peptidase II deficiency | immunodeficiency 78 with autoimmunity and developmental delay" +BMGC_DS18359,BMG_DS070546,sulfide quinone oxidoreductase deficiency | MONDO:0030982 | SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY | OMIM ID:619221 | OMIM ID:617658 | UMLS ID:C5543168 +BMGC_DS18360,BMG_DS070547,OMIM ID:619223 | UMLS ID:C5543173 | OMIM ID:610390 | IMMUNODEFICIENCY 77 | immunodeficiency 77 | MONDO:0030973 +BMGC_DS18361,BMG_DS070548,"MONDO:0030974 | mitochondrial complex 2 deficiency, nuclear type 4 | UMLS ID:C5543176 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 | OMIM ID:619224 | OMIM ID:185470" +BMGC_DS18362,BMG_DS070549,"BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA | UMLS ID:C5543184 | OMIM ID:169615 | OMIM ID:619226 | MONDO:0030986 | blistering, acantholytic, of oral and laryngeal mucosa" +BMGC_DS18363,BMG_DS070550,"UMLS ID:C5543189 | vertebral, cardiac, tracheoesophageal, renal, and limb defects | OMIM ID:618083 | OMIM ID:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS | MONDO:0030987" +BMGC_DS18364,BMG_DS070551,DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES | MONDO:0030988 | OMIM ID:602075 | developmental delay with dysmorphic facies and dental anomalies | UMLS ID:C5543197 | OMIM ID:619228 +BMGC_DS18365,BMG_DS070552,OMIM ID:602075 | Kohlschutter-Tonz syndrome-like | UMLS ID:C5543202 | MONDO:0030990 | DEN HOED-DE BOER-VOISIN SYNDROME | OMIM ID:619229 +BMGC_DS18366,BMG_DS070553,MONDO:0030991 | OMIM ID:602938 | BILE ACID CONJUGATION DEFECT 1 | UMLS ID:C5543203 | bile acid conjugation defect 1 | OMIM ID:619232 +BMGC_DS18367,BMG_DS070554,"MONDO:0030992 | OMIM ID:619234 | OMIM ID:617457 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY | UMLS ID:C5543206 | short stature, oligodontia, dysmorphic facies, and motor delay" +BMGC_DS18368,BMG_DS070555,IMMUNODEFICIENCY 79 | UMLS ID:C5543220 | DOID:0112277 | OMIM ID:186940 | MONDO:0030981 | immunodeficiency 79 | OMIM ID:619238 +BMGC_DS18369,BMG_DS070556,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES | OMIM ID:619239 | neurodevelopmental disorder with or without autism or seizures | MONDO:0030994 | UMLS ID:C5543225 +BMGC_DS18370,BMG_DS070557,UMLS ID:C5543226 | OMIM ID:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES | global developmental delay with speech and behavioral abnormalities | MONDO:0030995 | OMIM ID:610740 +BMGC_DS18371,BMG_DS070558,UMLS ID:C5543228 | neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM | MONDO:0030999 | OMIM ID:619014 | OMIM ID:619244 +BMGC_DS18372,BMG_DS070559,primary ovarian insufficiency 19 | DOID:0112278 | MONDO:0030985 | OMIM ID:604554 | OMIM ID:619245 | premature ovarian failure 19 | UMLS ID:C5543229 | PREMATURE OVARIAN FAILURE 19 +BMGC_DS18373,BMG_DS070560,OMIM ID:600959 | OMIM ID:619255 | Baralle-Macken syndrome | MONDO:0031002 | BARALLE-MACKEN SYNDROME | UMLS ID:C5543241 +BMGC_DS18374,BMG_DS070561,"OMIM ID:619256 | hypercholanemia, familial, 2 | OMIM ID:182396 | HYPERCHOLANEMIA, FAMILIAL, 2 | UMLS ID:C5543243 | MONDO:0031003" +BMGC_DS18375,BMG_DS070562,spermatogenic failure 53 | OMIM ID:619251 | DOID:0112279 | MONDO:0030989 | OMIM ID:619258 | SPERMATOGENIC FAILURE 53 | UMLS ID:C5543253 +BMGC_DS18376,BMG_DS070563,UMLS ID:C5543254 | MONDO:0031006 | OMIM ID:619259 | OMIM ID:600857 | neurodegeneration with ataxia and late-onset optic atrophy | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY +BMGC_DS18377,BMG_DS070564,"DOID:0112290 | OMIM ID:608700 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS | spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis | UMLS ID:C5543257 | spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | OMIM ID:619260 | MONDO:0031007" +BMGC_DS18378,BMG_DS070565,"UMLS ID:C5543267 | MONDO:0031008 | OMIM ID:619263 | OMIM ID:606627 | nephrotic syndrome, type 24 | NEPHROTIC SYNDROME, TYPE 24" +BMGC_DS18379,BMG_DS070566,OMIM ID:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES | OMIM ID:614545 | MONDO:0031011 | UMLS ID:C5543268 | neurodevelopmental disorder with dysmorphic facies and variable seizures +BMGC_DS18380,BMG_DS070567,OMIM ID:173470 | Glanzmann thrombasthenia 2 | UMLS ID:C5543273 | MONDO:0031009 | OMIM ID:619267 | GLANZMANN THROMBASTHENIA 2 +BMGC_DS18381,BMG_DS070568,UMLS ID:C5543274 | ALZAHRANI-KUWAHARA SYNDROME | Alzahrani-Kuwahara syndrome | MONDO:0859136 | OMIM ID:613175 | OMIM ID:619268 +BMGC_DS18382,BMG_DS070569,UMLS ID:C5543275 | MONDO:0031010 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES | odontochondrodysplasia 2 with hearing loss and diabetes | OMIM ID:619269 +BMGC_DS18383,BMG_DS070570,"OMIM ID:173470 | OMIM ID:619271 | UMLS ID:C5543280 | MONDO:0030996 | bleeding disorder, platelet-type, 24 | BLEEDING DISORDER, PLATELET-TYPE, 24" +BMGC_DS18384,BMG_DS070571,"UMLS ID:C5543281 | OMIM ID:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 | mitochondrial complex 1 deficiency, nuclear type 37 | OMIM ID:603359 | MONDO:0030997" +BMGC_DS18385,BMG_DS070572,"CIMDAG syndrome | cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome | UMLS ID:C5543287 | MONDO:0035819 | CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation) syndrome | Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation syndrome | OMIM ID:619273 | Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome (disorder) | CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome | SNOMEDCT ID:1332508004" +BMGC_DS18386,BMG_DS070573,"autosomal dominant nonsyndromic deafness 80 | OMIM ID:617782 | DEAFNESS, AUTOSOMAL DOMINANT 80 | DOID:0070602 | MONDO:0030998 | OMIM ID:619274 | UMLS ID:C5543289 | hearing loss, autosomal dominant 80" +BMGC_DS18387,BMG_DS070574,"OMIM ID:619278 | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 | OMIM ID:611483 | MONDO:0025690 | microcephaly, epilepsy, and diabetes syndrome 2 | UMLS ID:C5543294" +BMGC_DS18388,BMG_DS070575,UMLS ID:C5543299 | parkinsonism with polyneuropathy | PARKINSONISM WITH POLYNEUROPATHY | MONDO:0036193 | OMIM ID:191328 | OMIM ID:619279 +BMGC_DS18389,BMG_DS070576,"OMIM ID:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE | immunodeficiency 14b, autosomal recessive | OMIM ID:602839 | UMLS ID:C5543301 | MONDO:0023655" +BMGC_DS18390,BMG_DS070577,"neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA | UMLS ID:C5543306 | OMIM ID:605044 | OMIM ID:619286 | MONDO:0859137" +BMGC_DS18391,BMG_DS070578,DOID:0060937 | MONDO:0025691 | dystonia 30 | OMIM ID:619291 | DYSTONIA 30 | UMLS ID:C5543312 | OMIM ID:608550 +BMGC_DS18392,BMG_DS070579,KINSSHIP syndrome | OMIM ID:601464 | KINSSHIP SYNDROME | MONDO:0851095 | DOID:0112383 | UMLS ID:C5543317 | OMIM ID:619297 +BMGC_DS18393,BMG_DS070580,"OMIM ID:601301 | OMIM ID:619301 | DOID:0112325 | MONDO:0030258 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14 | UMLS ID:C5543322 | pontocerebellar hypoplasia, type 14 | pontocerebellar hypoplasia type 14" +BMGC_DS18394,BMG_DS070581,"DOID:0112326 | PONTOCEREBELLAR HYPOPLASIA, TYPE 15 | pontocerebellar hypoplasia, type 15 | OMIM ID:619302 | pontocerebellar hypoplasia type 15 | OMIM ID:605585 | MONDO:0030259 | UMLS ID:C5543326" +BMGC_DS18395,BMG_DS070582,"OMIM ID:610826 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1E | UMLS ID:C5543328 | MONDO:0030260 | pontocerebellar hypoplasia, type 1E | OMIM ID:619303 | pontocerebellar hypoplasia type 1E | DOID:0112330" +BMGC_DS18396,BMG_DS070583,"OMIM ID:606493 | pontocerebellar hypoplasia type 1F | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F | pontocerebellar hypoplasia, type 1F | DOID:0112331 | OMIM ID:619304 | UMLS ID:C5543331 | MONDO:0030261" +BMGC_DS18397,BMG_DS070584,MONDO:0859141 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA | OMIM ID:615329 | OMIM ID:619306 | neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | UMLS ID:C5543332 +BMGC_DS18398,BMG_DS070585,"DOID:0070407 | UMLS ID:C5543334 | OMIM ID:619310 | MONDO:0030263 | hypomyelinating leukodystrophy 21 | leukodystrophy, hypomyelinating, 21 | LEUKODYSTROPHY, HYPOMYELINATING, 21" +BMGC_DS18399,BMG_DS070586,OMIM ID:619311 | UMLS ID:C5543338 | OMIM ID:179550 | MONDO:0859142 | HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME | Hiatt-Neu-Cooper neurodevelopmental syndrome +BMGC_DS18400,BMG_DS070587,RADIO-TARTAGLIA SYNDROME | MONDO:0859143 | Radio-Tartaglia syndrome | OMIM ID:619312 | UMLS ID:C5543339 | OMIM ID:613484 +BMGC_DS18401,BMG_DS070588,UMLS ID:C5543344 | OMIM ID:619313 | MONDO:0030266 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY | immunodeficiency 80 with or without congenital cardiomyopathy +BMGC_DS18402,BMG_DS070589,OMIM ID:619314 | Buratti-Harel syndrome | UMLS ID:C5543351 | MONDO:0859144 | BURATTI-HAREL SYNDROME | OMIM ID:602212 +BMGC_DS18403,BMG_DS070590,UMLS ID:C5543353 | OMIM ID:182389 | OMIM ID:619317 | MONDO:0030268 | DOID:0070379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B | developmental and epileptic encephalopathy 6B +BMGC_DS18404,BMG_DS070591,oculogastrointestinal-neurodevelopmental syndrome | MONDO:0036189 | OMIM ID:619318 | UMLS ID:C5543355 | OMIM ID:603267 | OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME +BMGC_DS18405,BMG_DS070592,LYMPHATIC MALFORMATION 9 | MONDO:0030270 | OMIM ID:604523 | lymphatic malformation 9 | UMLS ID:C5543365 | OMIM ID:619319 +BMGC_DS18406,BMG_DS070593,"OMIM ID:609765 | OMIM ID:619320 | UMLS ID:C5543371 | MONDO:0023657 | intellectual developmental disorder, autosomal dominant 65 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65" +BMGC_DS18407,BMG_DS070594,"GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES | UMLS ID:C5543375 | OMIM ID:619321 | OMIM ID:603901 | growth restriction, hypoplastic kidneys, alopecia, and distinctive facies | MONDO:0859146" +BMGC_DS18408,BMG_DS070595,MARBACH-RUSTAD PROGEROID SYNDROME | Marbach-Rustad progeroid syndrome | MONDO:0859147 | OMIM ID:619322 | OMIM ID:616312 | UMLS ID:C5543388 +BMGC_DS18409,BMG_DS070596,OMIM ID:619152 | neurodevelopmental disorder with seizures and gingival overgrowth | UMLS ID:C5543395 | OMIM ID:619323 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH | MONDO:0859148 +BMGC_DS18410,BMG_DS070597,OMIM ID:619324 | UMLS ID:C5543398 | hypertriglyceridemia 2 | OMIM ID:611998 | HYPERTRIGLYCERIDEMIA 2 | MONDO:0859149 +BMGC_DS18411,BMG_DS070598,BDV (Blakemore Durmaz Vasileiou) syndrome | CPE-related Prader-Willi-like syndrome | MONDO:0859150 | OMIM ID:619326 | BDV syndrome | Blakemore Durmaz Vasileiou syndrome | SNOMEDCT ID:1340175001 | Carboxypeptidase E-related Prader-Willi-like syndrome (disorder) | Carboxypeptidase E-related Prader-Willi-like syndrome | UMLS ID:C5543403 +BMGC_DS18412,BMG_DS070599,"OMIM ID:601326 | OMIM ID:619328 | LEUKODYSTROPHY, HYPOMYELINATING, 22 | MONDO:0025701 | hypomyelinating leukodystrophy 22 | leukodystrophy, hypomyelinating, 22 | DOID:0070402 | UMLS ID:C5543406" +BMGC_DS18413,BMG_DS070600,"OMIM ID:120215 | fibromuscular dysplasia, multifocal | OMIM ID:619329 | FIBROMUSCULAR DYSPLASIA, MULTIFOCAL | MONDO:0859151 | UMLS ID:C5543412" +BMGC_DS18414,BMG_DS070601,OMIM ID:619333 | OMIM ID:607005 | MONDO:0859152 | UMLS ID:C5543427 | DOID:0070443 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction +BMGC_DS18415,BMG_DS070602,OMIM ID:619334 | arthrogryposis multiplex congenita 6 | MONDO:0030281 | DOID:0070336 | arthrogryposis multiplex congenita-6 | UMLS ID:C5543431 | OMIM ID:161650 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 +BMGC_DS18416,BMG_DS070603,"CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | UMLS ID:C5543440 | OMIM ID:619338" +BMGC_DS18417,BMG_DS070604,OMIM ID:619339 | Bartsocas-Papas syndrome 2 | BARTSOCAS-PAPAS SYNDROME 2 | UMLS ID:C5543445 | MONDO:0859154 +BMGC_DS18418,BMG_DS070605,OMIM ID:619340 | OMIM ID:601633 | MONDO:0023659 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 | developmental and epileptic encephalopathy 96 | UMLS ID:C5543446 | DOID:0070377 +BMGC_DS18419,BMG_DS070606,OMIM ID:619350 | visceral myopathy 2 | VISCERAL MYOPATHY 2 | MONDO:0859157 | UMLS ID:C5543466 | OMIM ID:160745 +BMGC_DS18420,BMG_DS070607,OMIM ID:619351 | megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | OMIM ID:160745 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 | UMLS ID:C5543476 | MONDO:0025708 +BMGC_DS18421,BMG_DS070608,"MONDO:0859158 | UMLS ID:C5543478 | ataxia, intention tremor, and hypotonia syndrome, childhood-onset | OMIM ID:619352 | OMIM ID:601632 | ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET" +BMGC_DS18422,BMG_DS070609,"DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY | UMLS ID:C5543482 | MONDO:0859159 | OMIM ID:186852 | OMIM ID:619354 | deafness, cataract, impaired intellectual development, and polyneuropathy" +BMGC_DS18423,BMG_DS070610,"UMLS ID:C5543491 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 | OMIM ID:619355 | OMIM ID:618064 | MONDO:0859160 | mitochondrial complex IV deficiency nuclear type 22 | DOID:0070507 | mitochondrial complex IV deficiency, nuclear type 22" +BMGC_DS18424,BMG_DS070611,"OMIM ID:600153 | OMIM ID:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | UMLS ID:C5543496 | MONDO:0859161 | onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome" +BMGC_DS18425,BMG_DS070612,"OMIM ID:619360 | MONDO:0025712 | UMLS ID:C5543503 | ANGIOEDEMA, HEREDITARY, 4 | angioedema, hereditary, 4 | OMIM ID:173350" +BMGC_DS18426,BMG_DS070613,"angioedema, hereditary, 5 | OMIM ID:619361 | UMLS ID:C5543508 | OMIM ID:601667 | ANGIOEDEMA, HEREDITARY, 5 | MONDO:0030293" +BMGC_DS18427,BMG_DS070614,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 | OMIM ID:602715 | megacystis-microcolon-intestinal hypoperistalsis syndrome 3 | OMIM ID:619362 | UMLS ID:C5543513 | MONDO:0030294 +BMGC_DS18428,BMG_DS070615,"angioedema, hereditary, 6 | MONDO:0023660 | ANGIOEDEMA, HEREDITARY, 6 | OMIM ID:619363 | UMLS ID:C5543516 | OMIM ID:612358" +BMGC_DS18429,BMG_DS070616,MONDO:0030296 | OMIM ID:619365 | UMLS ID:C5543519 | megacystis-microcolon-intestinal hypoperistalsis syndrome 4 | OMIM ID:609905 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 +BMGC_DS18430,BMG_DS070617,"ANGIOEDEMA, HEREDITARY, 7 | MONDO:0025713 | angioedema, hereditary, 7 | UMLS ID:C5543526 | OMIM ID:619366 | OMIM ID:604603" +BMGC_DS18431,BMG_DS070618,"OMIM ID:619210 | ANGIOEDEMA, HEREDITARY, 8 | MONDO:0030298 | angioedema, hereditary, 8 | UMLS ID:C5543528 | OMIM ID:619367" +BMGC_DS18432,BMG_DS070619,LYMPHATIC MALFORMATION 10 | MONDO:0023662 | OMIM ID:619369 | lymphatic malformation 10 | UMLS ID:C5543531 | OMIM ID:601922 +BMGC_DS18433,BMG_DS070620,"OMIM ID:619371 | UMLS ID:C5543535 | cardiomyopathy, dilated, 2D | MONDO:0030300 | CARDIOMYOPATHY, DILATED, 2D | dilated cardiomyopathy 2D | DOID:0081160 | OMIM ID:617416" +BMGC_DS18434,BMG_DS070621,OMIM ID:608458 | UMLS ID:C5543538 | neurodevelopmental disorder with infantile epileptic spasms | NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS | MONDO:0859162 | OMIM ID:619373 +BMGC_DS18435,BMG_DS070622,immunodeficiency 81 | MONDO:0030302 | UMLS ID:C5543540 | IMMUNODEFICIENCY 81 | OMIM ID:619374 | OMIM ID:601603 +BMGC_DS18436,BMG_DS070623,"OMIM ID:619375 | UMLS ID:C5543547 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY | autoinflammatory syndrome with immunodeficiency | MONDO:0800130 | OMIM ID:603597" +BMGC_DS18437,BMG_DS070624,UMLS ID:C5543554 | OMIM ID:619376 | FAUNDES-BANKA SYNDROME | MONDO:0859163 | OMIM ID:600187 | Faundes-Banka syndrome +BMGC_DS18438,BMG_DS070625,OMIM ID:611219 | OSTEOOTOHEPATOENTERIC SYNDROME | UMLS ID:C5543557 | MONDO:0859164 | osteootohepatoenteric syndrome | OMIM ID:619377 +BMGC_DS18439,BMG_DS070626,MONDO:0023664 | UMLS ID:C5543570 | spermatogenic failure 54 | OMIM ID:619379 | OMIM ID:619387 | SPERMATOGENIC FAILURE 54 | DOID:0112335 +BMGC_DS18440,BMG_DS070627,OMIM ID:619380 | UMLS ID:C5543580 | SPERMATOGENIC FAILURE 55 | DOID:0112337 | MONDO:0030307 | spermatogenic failure 55 | OMIM ID:616554 +BMGC_DS18441,BMG_DS070628,UMLS ID:C5543581 | MONDO:0030308 | OMIM ID:619381 | immunodeficiency 82 with systemic inflammation | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION | OMIM ID:600085 +BMGC_DS18442,BMG_DS070629,"Leber hereditary optic neuropathy, autosomal recessive | OMIM ID:619382 | LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1 | OMIM ID:618202 | MONDO:0030309 | UMLS ID:C5543589" +BMGC_DS18443,BMG_DS070630,"OMIM ID:618159 | OMIM ID:619383 | neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | UMLS ID:C5543591 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES | MONDO:0859165" +BMGC_DS18444,BMG_DS070631,UMLS ID:C5543592 | OMIM ID:603485 | MONDO:0030311 | combined oxidative phosphorylation deficiency 52 | OMIM ID:619386 | DOID:0070425 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 +BMGC_DS18445,BMG_DS070632,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 | OMIM ID:605485 | UMLS ID:C5543595 | MONDO:0030312 | OMIM ID:619389 | autosomal recessive spinocerebellar ataxia 29 | spinocerebellar ataxia, autosomal recessive 29 | DOID:0070410" +BMGC_DS18446,BMG_DS070633,"UMLS ID:C5543600 | encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 | OMIM ID:619396 | MONDO:0030313" +BMGC_DS18447,BMG_DS070634,OMIM ID:600222 | UMLS ID:C5543614 | OMIM ID:619401 | LYMPHATIC MALFORMATION 11 | MONDO:0030316 | lymphatic malformation 11 +BMGC_DS18448,BMG_DS070635,"MONDO:0030317 | OMIM ID:609691 | UMLS ID:C5543616 | OMIM ID:619402 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 | cardiomyopathy, familial hypertrophic, 28" +BMGC_DS18449,BMG_DS070636,"UMLS ID:C5543620 | DOID:0070411 | MONDO:0030318 | autosomal recessive spinocerebellar ataxia 30 | OMIM ID:618211 | OMIM ID:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 | spinocerebellar ataxia, autosomal recessive 30" +BMGC_DS18450,BMG_DS070637,MONDO:0859167 | UMLS ID:C5543621 | OMIM ID:605722 | OMIM ID:619406 | hypokalemic tubulopathy and deafness | HYPOKALEMIC TUBULOPATHY AND DEAFNESS +BMGC_DS18451,BMG_DS070638,WHIM SYNDROME 2 | OMIM ID:619407 | DOID:0060973 | MONDO:0030374 | UMLS ID:C5543622 | OMIM ID:146928 | WHIM syndrome 2 +BMGC_DS18452,BMG_DS070639,"neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 | MONDO:0030375 | OMIM ID:619418 | OMIM ID:603623 | UMLS ID:C5543623" +BMGC_DS18453,BMG_DS070640,MARTSOLF SYNDROME 2 | OMIM ID:602536 | Martsolf syndrome 2 | MONDO:0030376 | UMLS ID:C5543626 | OMIM ID:619420 +BMGC_DS18454,BMG_DS070641,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 | autosomal recessive spinocerebellar ataxia 31 | UMLS ID:C5543627 | spinocerebellar ataxia, autosomal recessive 31 | DOID:0070412 | MONDO:0030323 | OMIM ID:619422 | OMIM ID:608760" +BMGC_DS18455,BMG_DS070642,MONDO:0030378 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 | OMIM ID:619423 | OMIM ID:619219 | DOID:0070426 | combined oxidative phosphorylation deficiency 53 | UMLS ID:C5543631 +BMGC_DS18456,BMG_DS070643,mitochondrial dna depletion syndrome 16B (neuroophthalmic type) | DOID:0070447 | UMLS ID:C5543632 | OMIM ID:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) | OMIM ID:604983 | MONDO:0030326 | mitochondrial DNA depletion syndrome 16B +BMGC_DS18457,BMG_DS070644,MONDO:0859169 | White-Kernohan syndrome | UMLS ID:C5543635 | OMIM ID:600045 | OMIM ID:619426 | WHITE-KERNOHAN SYNDROME +BMGC_DS18458,BMG_DS070645,UMLS ID:C5543636 | OMIM ID:619431 | MONDO:0030329 | megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | OMIM ID:102545 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 +BMGC_DS18459,BMG_DS070646,"OMIM ID:605664 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 | OMIM ID:619433 | UMLS ID:C5543638 | MONDO:0030330 | cardiomyopathy, familial restrictive, 6" +BMGC_DS18460,BMG_DS070647,"OMIM ID:607652 | CILIARY DYSKINESIA, PRIMARY, 46 | OMIM ID:619436 | UMLS ID:C5543646 | MONDO:0030332 | ciliary dyskinesia, primary, 46" +BMGC_DS18461,BMG_DS070648,"HYPERTRIIODOTHYRONINEMIA, FAMILIAL DYSALBUMINEMIC | OMIM ID:103600 | OMIM ID:615999 | UMLS ID:C5543652" +BMGC_DS18462,BMG_DS070678,Neuroinflammatory Diseases | MeSH ID:D000090862 | UMLS ID:C5544451 +BMGC_DS18463,BMG_DS070680,Dominantly-Inherited Spinocerebellar Ataxias | Spinocerebellar Ataxias | MeSH ID:D020754 | UMLS ID:C5544494 +BMGC_DS18464,BMG_DS070692,Chronic Condition | Chronic Disease | MeSH ID:D002908 | UMLS ID:C5545294 +BMGC_DS18465,BMG_DS070790,Recurrent infection due to specific granule deficiency | SNOMEDCT ID:1144934003 | UMLS ID:C5546032 | Recurrent infection due to specific granule deficiency (disorder) +BMGC_DS18466,BMG_DS070883,bullous diffuse cutaneous mastocytosis | MONDO:0017243 | UMLS ID:C5546764 +BMGC_DS18467,BMG_DS071119,SNOMEDCT ID:1156763004 | UMLS ID:C5548189 | Progressive supranuclear palsy corticobasal syndrome (disorder) | MONDO:0016563 | Progressive supranuclear palsy corticobasal syndrome | progressive supranuclear palsy-corticobasal syndrome +BMGC_DS18468,BMG_DS071124,Atypical non-ketotic hyperglycinemia | UMLS ID:C5548198 | Atypical non-ketotic hyperglycinaemia | Atypical glycine encephalopathy (disorder) | Atypical glycine encephalopathy | SNOMEDCT ID:1156791007 +BMGC_DS18469,BMG_DS071125,SNOMEDCT ID:1156803005 | Neonatal glycine encephalopathy (disorder) | neonatal glycine encephalopathy | UMLS ID:C5548200 | Neonatal non-ketotic hyperglycinemia | Neonatal glycine encephalopathy | Neonatal non-ketotic hyperglycinaemia | MONDO:0017353 +BMGC_DS18470,BMG_DS071126,familial adenomatous polyposis due to 5q22.2 microdeletion | MONDO:0016860 | UMLS ID:C5548205 +BMGC_DS18471,BMG_DS071130,UMLS ID:C5548209 | SNOMEDCT ID:1156826003 | Infantile glycine encephalopathy (disorder) | infantile glycine encephalopathy | Infantile non-ketotic hyperglycinemia | MONDO:0017354 | Infantile non-ketotic hyperglycinaemia | Infantile glycine encephalopathy +BMGC_DS18472,BMG_DS071133,"MONDO:0015362 | neuronopathy, distal hereditary motor, autosomal dominant | SNOMEDCT ID:1156837002 | UMLS ID:C5548212 | Autosomal dominant distal hereditary motor neuropathy | Autosomal dominant distal hereditary motor neuropathy (disorder)" +BMGC_DS18473,BMG_DS071134,UMLS ID:C5548213 | X-linked thrombocytopenia with normal platelets | X-linked thrombocytopenia with normal platelets (disorder) | X-linked thrombocytopaenia with normal platelets | SNOMEDCT ID:1156838007 +BMGC_DS18474,BMG_DS071188,"SNOMEDCT ID:1156850001 | MONDO:0015363 | neuronopathy, distal hereditary motor, autosomal recessive | Autosomal recessive distal hereditary motor neuropathy | Autosomal recessive distal hereditary motor neuropathy (disorder) | UMLS ID:C5548369" +BMGC_DS18475,BMG_DS071189,Progressive supranuclear palsy parkinsonism syndrome (disorder) | Progressive supranuclear palsy parkinsonism syndrome | UMLS ID:C5548370 | SNOMEDCT ID:1156764005 +BMGC_DS18476,BMG_DS071202,"ICD11 ID:5C58.00 | Bilirubin UDP glucuronyl transferase deficiency | UMLS ID:C5551003 | ICD10 ID:E80.5 | SNOMEDCT ID:8933000 | Crigler-Najjar syndrome, type I | Crigler-Najjar syndrome (disorder) | Crigler-Najjar type 1 | UDP glucuronyl transferase deficiency | Crigler-Najjar syndrome type I | Crigler-Najjar syndrome, type I (disorder) | Glucuronyltransferase deficiency | CriglerNajjar syndrome | Bilirubin glucuronosyltransferase deficiency | Crigler-Najjar syndrome | Deficiency of glucuronosyltransferase | MONDO:0009044 | SNOMEDCT ID:28259009" +BMGC_DS18477,BMG_DS071204,"OMIM ID:618463 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | OMIM ID:107680 | UMLS ID:C5551172 | hypoalphalipoproteinemia, primary, 2 | DOID:0080958 | MONDO:0032766 | primary hypoalphalipoproteinemia 2" +BMGC_DS18478,BMG_DS071209,MONDO:0005996 | UMLS ID:C5551334 | Trichuriasis | Trichocephaliasis | ICD10 ID:B79 | Trichuriosis | Whipworm infection | SNOMEDCT ID:3752003 | Trichuriasis - whipworm | SNOMEDCT ID:154413002 | Infection by Trichuris | Trichuriasis (disorder) | trichuriasis +BMGC_DS18479,BMG_DS071210,"OMIM ID:600293 | UMLS ID:C5551343 | MONDO:0800028 | dyskinesia with orofacial involvement, autosomal dominant | DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL DOMINANT | OMIM ID:606703" +BMGC_DS18480,BMG_DS071211,AICARDI-GOUTIERES SYNDROME 8 | MONDO:0030361 | OMIM ID:619486 | Aicardi-Goutieres syndrome 8 | UMLS ID:C5551352 | OMIM ID:617910 +BMGC_DS18481,BMG_DS071212,Skin infection | UMLS ID:C5551358 | SNOMEDCT ID:19824006 | Skin and subcutaneous tissue infection | Infective dermatological disorders | Infection of skin and/or subcutaneous tissue | Infection of skin and/or subcutaneous tissue (disorder) +BMGC_DS18482,BMG_DS071214,DOID:0070469 | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | UMLS ID:C5551361 | OMIM ID:605012 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM | MONDO:0859179 | OMIM ID:619480 +BMGC_DS18483,BMG_DS071215,OMIM ID:619539 | OMIM ID:616633 | UMLS ID:C5551362 | neuroocular syndrome | MONDO:0859193 | NEUROOCULAR SYNDROME 1 +BMGC_DS18484,BMG_DS071217,"MONDO:0011144 | OMIM ID:606725 | OMIM ID:601780 | CEROID LIPOFUSCINOSIS, NEURONAL, 6A | UMLS ID:C5551375 | ceroid lipofuscinosis, neuronal, 6A" +BMGC_DS18485,BMG_DS071220,"MeSH ID:C537480 | Miyoshi muscular dystrophy | UMLS ID:C5551399 | DOID:0070198 | Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive" +BMGC_DS18486,BMG_DS071221,Typical absence seizure (disorder) | Typical absence seizure (finding) | SNOMEDCT ID:432241000124101 | UMLS ID:C5551411 | Typical absence seizure | SNOMEDCT ID:1173024006 +BMGC_DS18487,BMG_DS071223,UMLS ID:C5551428 | testicular seminoma | MONDO:0003669 +BMGC_DS18488,BMG_DS071224,OMIM ID:122750 | coxa vara | MONDO:0007391 | UMLS ID:C5551440 +BMGC_DS18489,BMG_DS071227,"OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE | OMIM ID:120290 | UMLS ID:C5551484 | OMIM ID:215150 | otospondylomegaepiphyseal dysplasia, autosomal recessive | MONDO:0044206 | DOID:0080026" +BMGC_DS18490,BMG_DS071229,"MONDO:0010256 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | DOID:0112022 | intellectual disability, X-linked 21 | OMIM ID:300206 | OMIM ID:300143 | non-syndromic X-linked intellectual disability 21 | UMLS ID:C5551510" +BMGC_DS18491,BMG_DS071232,Leiner's disease | Erythroderma desquamativum | erythroderma desquamativum | Generalized seborrheic dermatitis of infants (disorder) | MONDO:0017787 | Infantile seborrhoeic dermatitis | Generalised seborrhoeic dermatitis of infants | Generalized seborrheic dermatitis of infants | SNOMEDCT ID:7297005 | UMLS ID:C5551904 | Infantile seborrheic dermatitis +BMGC_DS18492,BMG_DS071233,UMLS ID:C5552731 | MONDO:0019123 | continuous spikes and waves during sleep +BMGC_DS18493,BMG_DS071234,"erythroleukemia, familial, susceptibility to | UMLS ID:C5552985 | OMIM ID:133180 | MONDO:0007573" +BMGC_DS18494,BMG_DS071235,MeSH ID:C537480 | MONDO:0009685 | Miyoshi muscular dystrophy | Miyoshi myopathy | DOID:0070198 | UMLS ID:C5553104 +BMGC_DS18495,BMG_DS071240,MONDO:0018761 | UMLS ID:C5554190 | SMARCA4-deficient sarcoma of thorax +BMGC_DS18496,BMG_DS071241,"MONDO:0016418 | multiple system atrophy, cerebellar type | UMLS ID:C5554234" +BMGC_DS18497,BMG_DS071242,"UMLS ID:C5554235 | MONDO:0020352 | multiple system atrophy, parkinsonian type" +BMGC_DS18498,BMG_DS071257,RASopathy | UMLS ID:C5555857 | MONDO:0021060 +BMGC_DS18499,BMG_DS071258,Intermediate epidermolysis bullosa simplex with cardiomyopathy | Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) | UMLS ID:C5555869 | SNOMEDCT ID:1177176009 +BMGC_DS18500,BMG_DS071260,uterine ligament adenocarcinoma | UMLS ID:C5557428 | DOID:3700 +BMGC_DS18501,BMG_DS071261,DOID:3699 | UMLS ID:C5557429 | uterine ligament mucinous adenocarcinoma +BMGC_DS18502,BMG_DS071262,DOID:5829 | uterine ligament endometrioid adenocarcinoma | UMLS ID:C5557430 +BMGC_DS18503,BMG_DS071263,DOID:5302 | uterine ligament clear cell adenocarcinoma | UMLS ID:C5557431 +BMGC_DS18504,BMG_DS071264,endometrial type cervical adenomyoma | UMLS ID:C5557432 | DOID:8178 +BMGC_DS18505,BMG_DS071275,"EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE | UMLS ID:C5561924 | epidermolysis bullosa simplex generalized type | epidermolysis bullosa simplex 1B, generalized intermediate | OMIM ID:148066 | DOID:0080511 | OMIM ID:131900 | MONDO:0007554" +BMGC_DS18506,BMG_DS071276,OMIM ID:602870 | OMIM ID:153870 | MONDO:0007934 | benign concentric annular macular dystrophy | UMLS ID:C5561925 | RETINITIS PIGMENTOSA 91 +BMGC_DS18507,BMG_DS071277,INTERSTITIAL LUNG DISEASE 2 | interstitial lung disease 2 | MONDO:0800029 | OMIM ID:178500 | OMIM ID:178642 | DOID:0060971 | UMLS ID:C5561926 +BMGC_DS18508,BMG_DS071278,"OMIM ID:606725 | MONDO:0008768 | CEROID LIPOFUSCINOSIS, NEURONAL, 6B (KUFS TYPE) | UMLS ID:C5561927 | OMIM ID:204300 | ceroid lipofuscinosis, neuronal, 6B (Kufs type)" +BMGC_DS18509,BMG_DS071279,anencephaly 1 | UMLS ID:C5561928 | OMIM ID:206500 | MONDO:0008791 +BMGC_DS18510,BMG_DS071280,"UMLS ID:C5561929 | MONDO:0800027 | OMIM ID:221820 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1 | DOID:0080523 | leukoencephalopathy, diffuse hereditary, with spheroids 1 | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" +BMGC_DS18511,BMG_DS071281,"MONDO:0859080 | OMIM ID:314310 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES | intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | OMIM ID:301066 | UMLS ID:C5561930" +BMGC_DS18512,BMG_DS071282,"MONDO:0100519 | UMLS ID:C5561931 | OMIM ID:602477 | epilepsy, idiopathic generalized, susceptibility to, 17" +BMGC_DS18513,BMG_DS071283,"DOID:0111310 | OMIM ID:602781 | UMLS ID:C5561932 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 11 | OMIM ID:602477 | familial febrile seizures 2" +BMGC_DS18514,BMG_DS071284,"Charcot-Marie-Tooth Disease, axonal, type 2GG | OMIM ID:603698 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2GG | MONDO:0011675 | OMIM ID:606483 | UMLS ID:C5561933" +BMGC_DS18515,BMG_DS071285,"OMIM ID:601295 | BILE ACID MALABSORPTION, PRIMARY, 1 | UMLS ID:C5561934 | bile acid malabsorption, primary, 1 | MONDO:0013214 | OMIM ID:613291" +BMGC_DS18516,BMG_DS071286,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE | OMIM ID:615596 | DOID:0080572 | STT3A-congenital disorder of glycosylation | OMIM ID:601134 | MONDO:0014270 | congenital disorder of glycosylation Iw | UMLS ID:C5561935" +BMGC_DS18517,BMG_DS071287,BARDET-BIEDL SYNDROME 22 | Bardet-Biedl syndrome 22 | OMIM ID:608040 | DOID:0081011 | OMIM ID:617119 | MONDO:0014926 | UMLS ID:C5561936 +BMGC_DS18518,BMG_DS071288,"UMLS ID:C5561937 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY | MONDO:0859168 | OMIM ID:619424 | OMIM ID:160781 | myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy" +BMGC_DS18519,BMG_DS071289,UMLS ID:C5561938 | focal segmental glomerulosclerosis and neurodevelopmental syndrome | OMIM ID:619428 | OMIM ID:606125 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME | MONDO:0100111 +BMGC_DS18520,BMG_DS071290,UMLS ID:C5561939 | RITSCHER-SCHINZEL SYNDROME 4 | OMIM ID:608383 | MONDO:0030331 | OMIM ID:619435 | Ritscher-Schinzel syndrome 4 +BMGC_DS18521,BMG_DS071291,OMIM ID:619437 | UMLS ID:C5561940 | OMIM ID:606221 | IMMUNODEFICIENCY 84 | MONDO:0030333 | immunodeficiency 84 +BMGC_DS18522,BMG_DS071292,"OMIM ID:619441 | encephalitis, acute, infection (viral)-induced, susceptibility to, 11 | MONDO:0030334 | UMLS ID:C5561941" +BMGC_DS18523,BMG_DS071293,"MONDO:0030335 | OMIM ID:600876 | UMLS ID:C5561942 | DIARRHEA 12, WITH MICROVILLUS ATROPHY | OMIM ID:619445 | diarrhea 12, with microvillus atrophy" +BMGC_DS18524,BMG_DS071294,retinal dystrophy and microvillus inclusion disease | UMLS ID:C5561943 | MONDO:0859170 | OMIM ID:619446 | RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE | OMIM ID:600876 +BMGC_DS18525,BMG_DS071295,"cutis laxa, autosomal recessive, type 2E | OMIM ID:150390 | OMIM ID:619451 | UMLS ID:C5561944 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE | MONDO:0030337" +BMGC_DS18526,BMG_DS071296,OMIM ID:619452 | anencephaly 2 | UMLS ID:C5561945 | MONDO:0030338 +BMGC_DS18527,BMG_DS071297,OMIM ID:619460 | DOID:0070416 | OMIM ID:608985 | UMLS ID:C5561946 | LUO-SCHOCH-YAMAMOTO SYNDROME | Luo-Schoch-Yamamoto syndrome | MONDO:0859171 +BMGC_DS18528,BMG_DS071298,"OMIM ID:619461 | UMLS ID:C5561947 | myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | OMIM ID:600104 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE | MONDO:0030341" +BMGC_DS18529,BMG_DS071299,"UMLS ID:C5561948 | MONDO:0030397 | OMIM ID:619463 | OMIM ID:608086 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2 | portal hypertension, noncirrhotic, 2" +BMGC_DS18530,BMG_DS071300,OMIM ID:139390 | MONDO:0859173 | UMLS ID:C5561949 | OMIM ID:619464 | SICK SINUS SYNDROME 4 | sick sinus syndrome 4 +BMGC_DS18531,BMG_DS071301,"VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE | OMIM ID:619465 | OMIM ID:164870 | visceral neuropathy, familial, 2, autosomal recessive | MONDO:0030399 | UMLS ID:C5561950" +BMGC_DS18532,BMG_DS071302,"MONDO:0030346 | ciliary dyskinesia, primary, 47, and lissencephaly | UMLS ID:C5561951 | CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY | OMIM ID:619466 | OMIM ID:601990" +BMGC_DS18533,BMG_DS071303,"USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT | Usmani-Riazuddin syndrome, autosomal dominant | MONDO:0859174 | OMIM ID:619467 | UMLS ID:C5561952 | OMIM ID:603533" +BMGC_DS18534,BMG_DS071304,NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 | nephronophthisis-like nephropathy 2 | OMIM ID:610801 | UMLS ID:C5561953 | OMIM ID:619468 | MONDO:0859175 +BMGC_DS18535,BMG_DS071305,OMIM ID:619469 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | neurodevelopmental disorder with motor and speech delay and behavioral abnormalities | OMIM ID:619470 | UMLS ID:C5561954 | MONDO:0859176 +BMGC_DS18536,BMG_DS071306,VISS SYNDROME | MONDO:0859177 | OMIM ID:619472 | UMLS ID:C5561955 | VISS syndrome | OMIM ID:605600 +BMGC_DS18537,BMG_DS071307,OMIM ID:619473 | OCULOPHARYNGODISTAL MYOPATHY 3 | OMIM ID:618025 | MONDO:0023671 | DOID:0081299 | oculopharyngodistal myopathy 3 | UMLS ID:C5561956 +BMGC_DS18538,BMG_DS071308,"MONDO:0859178 | OMIM ID:619475 | UMLS ID:C5561957 | developmental delay, impaired speech, and behavioral abnormalities" +BMGC_DS18539,BMG_DS071309,JOUBERT SYNDROME 38 | OMIM ID:617112 | UMLS ID:C5561958 | MONDO:0030353 | OMIM ID:619476 | Joubert syndrome 38 +BMGC_DS18540,BMG_DS071310,"facioscapulohumeral muscular dystrophy 3, digenic | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC | MONDO:0030354 | DOID:0060917 | OMIM ID:615354 | facioscapulohumeral muscular dystrophy 3 | UMLS ID:C5561959 | OMIM ID:619477" +BMGC_DS18541,BMG_DS071311,"OMIM ID:619478 | facioscapulohumeral muscular dystrophy 4, digenic | facioscapulohumeral muscular dystrophy 4 | MONDO:0030355 | DOID:0060918 | OMIM ID:602900 | UMLS ID:C5561960 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC" +BMGC_DS18542,BMG_DS071312,short-rib thoracic dysplasia 21 without polydactyly | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY | UMLS ID:C5561961 | OMIM ID:619479 | MONDO:0030356 +BMGC_DS18543,BMG_DS071313,"BILE ACID MALABSORPTION, PRIMARY, 2 | bile acid malabsorption, primary, 2 | OMIM ID:612085 | OMIM ID:619481 | MONDO:0859180 | UMLS ID:C5561962" +BMGC_DS18544,BMG_DS071314,"OMIM ID:614636 | central hypoventilation syndrome, congenital, 2, and autonomic dysfunction | OMIM ID:619482 | UMLS ID:C5561963 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION | MONDO:0030537" +BMGC_DS18545,BMG_DS071315,"OMIM ID:619483 | MONDO:0030539 | central hypoventilation syndrome, congenital, 3 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3 | OMIM ID:604255 | UMLS ID:C5561964" +BMGC_DS18546,BMG_DS071316,"OMIM ID:612084 | cholestasis, progressive familial intrahepatic, 6 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 | OMIM ID:619484 | MONDO:0030360 | UMLS ID:C5561965" +BMGC_DS18547,BMG_DS071317,Aicardi-Goutieres syndrome 9 | OMIM ID:619487 | MONDO:0030362 | OMIM ID:617876 | UMLS ID:C5561966 | AICARDI-GOUTIERES SYNDROME 9 +BMGC_DS18548,BMG_DS071318,DEGCAGS SYNDROME | UMLS ID:C5561967 | OMIM ID:619488 | OMIM ID:609571 | MONDO:0859181 | DEGCAGS syndrome +BMGC_DS18549,BMG_DS071319,"OMIM ID:619485 | MONDO:0859182 | UMLS ID:C5561968 | SHORT STATURE, DAUBER-ARGENTE TYPE | Short stature, Dauber-Argente type | OMIM ID:619489" +BMGC_DS18550,BMG_DS071320,"Parkinson disease 24, autosomal dominant, susceptibility to | UMLS ID:C5561969 | OMIM ID:619491 | MONDO:0859183" +BMGC_DS18551,BMG_DS071321,"UMLS ID:C5561970 | DOID:0081161 | CARDIOMYOPATHY, DILATED, 2E | cardiomyopathy, dilated, 2E | MONDO:0030366 | OMIM ID:619492 | dilated cardiomyopathy 2E | OMIM ID:605267" +BMGC_DS18552,BMG_DS071322,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v | OMIM ID:619493 | OMIM ID:610214 | UMLS ID:C5561971 | MONDO:0030423 | congenital disorder of glycosylation, type 2v" +BMGC_DS18553,BMG_DS071323,"MONDO:0030549 | DOID:0070608 | OMIM ID:619500 | autosomal dominant nonsyndromic deafness 81 | hearing loss, autosomal dominant 81 | DEAFNESS, AUTOSOMAL DOMINANT 81 | UMLS ID:C5561972 | OMIM ID:615427" +BMGC_DS18554,BMG_DS071324,OMIM ID:615759 | OMIM ID:619501 | ventriculomegaly and arthrogryposis | MONDO:0859184 | UMLS ID:C5561973 | VENTRICULOMEGALY AND ARTHROGRYPOSIS +BMGC_DS18555,BMG_DS071325,OMIM ID:139390 | neurodevelopmental disorder with hypotonia and dysmorphic facies | OMIM ID:619503 | MONDO:0859185 | UMLS ID:C5561974 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES +BMGC_DS18556,BMG_DS071326,OMIM ID:619504 | CHOPRA-AMIEL-GORDON SYNDROME | OMIM ID:615929 | UMLS ID:C5561975 | Chopra-Amiel-Gordon syndrome | MONDO:0859186 +BMGC_DS18557,BMG_DS071327,OMIM ID:619510 | UMLS ID:C5561976 | OMIM ID:604700 | immunodeficiency 85 and autoimmunity | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY | MONDO:0030428 +BMGC_DS18558,BMG_DS071328,OMIM ID:619512 | UMLS ID:C5561977 | OMIM ID:600580 | neurodevelopmental disorder with hypotonia and brain abnormalities | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES | MONDO:0859187 +BMGC_DS18559,BMG_DS071329,OMIM ID:619515 | UMLS ID:C5561978 | spermatogenic failure 56 | MONDO:0030430 | SPERMATOGENIC FAILURE 56 | OMIM ID:605884 | DOID:0112336 +BMGC_DS18560,BMG_DS071330,neurodevelopmental disorder with seizures and brain abnormalities | OMIM ID:600580 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES | MONDO:0859188 | UMLS ID:C5561979 | OMIM ID:619517 +BMGC_DS18561,BMG_DS071331,"muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | OMIM ID:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME | OMIM ID:606982 | UMLS ID:C5561980 | MONDO:0859189" +BMGC_DS18562,BMG_DS071332,"OMIM ID:609743 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF | OMIM ID:619519 | UMLS ID:C5561981 | MONDO:0030433 | Charcot-Marie-Tooth disease, axonal, type 2FF" +BMGC_DS18563,BMG_DS071333,"OMIM ID:619521 | epilepsy, idiopathic generalized, susceptibility to, 18 | MONDO:0030434 | UMLS ID:C5561983" +BMGC_DS18564,BMG_DS071334,OMIM ID:602221 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES | MONDO:0859190 | neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | UMLS ID:C5561984 | OMIM ID:619522 +BMGC_DS18565,BMG_DS071335,"anemia, sideroblastic, 5 | OMIM ID:608142 | DOID:0061007 | ANEMIA, SIDEROBLASTIC, 5 | UMLS ID:C5561985 | sideroblastic anemia 5 | OMIM ID:619523 | MONDO:0030436" +BMGC_DS18566,BMG_DS071336,"congenital disorder of glycosylation, type IIw | UMLS ID:C5561986 | OMIM ID:602671 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw | MONDO:0030437 | OMIM ID:619525" +BMGC_DS18567,BMG_DS071337,"OMIM ID:619527 | pontocerebellar hypoplasia type 16 | DOID:0112333 | MONDO:0030438 | pontocerebellar hypoplasia, type 16 | OMIM ID:605391 | UMLS ID:C5561987 | PONTOCEREBELLAR HYPOPLASIA, TYPE 16" +BMGC_DS18568,BMG_DS071338,UMLS ID:C5561988 | DOID:0112338 | SPERMATOGENIC FAILURE 57 | OMIM ID:619528 | MONDO:0030439 | OMIM ID:619529 | spermatogenic failure 57 +BMGC_DS18569,BMG_DS071339,cone-rod dystrophy 22 | DOID:0081448 | CONE-ROD DYSTROPHY 22 | MONDO:0030440 | OMIM ID:615175 | OMIM ID:619531 | UMLS ID:C5561989 +BMGC_DS18570,BMG_DS071340,"BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME | OMIM ID:617453 | OMIM ID:619534 | UMLS ID:C5561990 | biliary, renal, neurologic, and skeletal syndrome | MONDO:0859191" +BMGC_DS18571,BMG_DS071341,UMLS ID:C5561991 | MONDO:0859192 | OMIM ID:619538 | cerebral cavernous malformation 4 +BMGC_DS18572,BMG_DS071342,Boudin-Mortier syndrome | OMIM ID:619543 | MONDO:0859194 | UMLS ID:C5561992 | OMIM ID:108962 | BOUDIN-MORTIER SYNDROME +BMGC_DS18573,BMG_DS071343,"USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE | UMLS ID:C5561994 | Usmani-Riazuddin syndrome, autosomal recessive | MONDO:0859196 | OMIM ID:619548 | OMIM ID:603533" +BMGC_DS18574,BMG_DS071344,immunodeficiency 86 | MONDO:0030448 | UMLS ID:C5561995 | OMIM ID:619549 | OMIM ID:608238 | IMMUNODEFICIENCY 86 +BMGC_DS18575,BMG_DS071345,"hearing loss, autosomal recessive 118, with cochlear aplasia | DEAFNESS, AUTOSOMAL RECESSIVE 118, WITH COCHLEAR APLASIA | OMIM ID:619553 | UMLS ID:C5561996 | MONDO:0030449" +BMGC_DS18576,BMG_DS071346,"intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | MONDO:0859197 | DOID:0081262 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES | UMLS ID:C5561997 | OMIM ID:619556 | OMIM ID:603002" +BMGC_DS18577,BMG_DS071347,"short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | OMIM ID:619557 | MONDO:0859198 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES | UMLS ID:C5561998 | OMIM ID:615894" +BMGC_DS18578,BMG_DS071348,DOID:0070383 | OMIM ID:602538 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 | MONDO:0030453 | developmental and epileptic encephalopathy 97 | UMLS ID:C5561999 | OMIM ID:619561 +BMGC_DS18579,BMG_DS071349,MONDO:0030454 | OMIM ID:619562 | Joubert syndrome 39 | UMLS ID:C5562000 | JOUBERT SYNDROME 39 | OMIM ID:619285 +BMGC_DS18580,BMG_DS071350,dystonia 31 | OMIM ID:619600 | OMIM ID:619565 | DYSTONIA 31 | MONDO:0030455 | DOID:0060938 | UMLS ID:C5562001 +BMGC_DS18581,BMG_DS071351,"MONDO:0030456 | OMIM ID:602570 | OMIM ID:619566 | muscular dystrophy, limb-girdle, autosomal recessive 27 | UMLS ID:C5562002 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27" +BMGC_DS18582,BMG_DS071352,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH | OMIM ID:619574 | Charcot-Marie-Tooth disease, axonal, Type 2HH | MONDO:0030458 | OMIM ID:601920 | UMLS ID:C5562003" +BMGC_DS18583,BMG_DS071353,developmental delay with or without intellectual impairment or behavioral abnormalities | UMLS ID:C5562004 | MONDO:0859199 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES | OMIM ID:619575 +BMGC_DS18584,BMG_DS071354,"cerebellar ataxia, brain abnormalities, and cardiac conduction defects | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS | OMIM ID:606492 | UMLS ID:C5562005 | MONDO:0859200 | OMIM ID:619576" +BMGC_DS18585,BMG_DS071355,NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES | MONDO:0859201 | neurodevelopmental disorder with impaired language and ataxia and with or without seizures | UMLS ID:C5562006 | OMIM ID:619580 +BMGC_DS18586,BMG_DS071356,JOUBERT SYNDROME 40 | OMIM ID:619582 | MONDO:0030462 | OMIM ID:608040 | UMLS ID:C5562007 | Joubert syndrome 40 +BMGC_DS18587,BMG_DS071357,OMIM ID:619585 | spermatogenic failure 58 | MONDO:0030463 | SPERMATOGENIC FAILURE 58 | OMIM ID:608040 | DOID:0112352 | UMLS ID:C5562008 +BMGC_DS18588,BMG_DS071358,"OMIM ID:148040 | UMLS ID:C5562009 | MONDO:0030525 | OMIM ID:619588 | epidermolysis bullosa simplex 2B, generalized intermediate | EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE" +BMGC_DS18589,BMG_DS071359,cataract 49 | CATARACT 49 | UMLS ID:C5562010 | MONDO:0030465 | OMIM ID:619593 +BMGC_DS18590,BMG_DS071360,"EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED | OMIM ID:148040 | epidermolysis bullosa simplex 2C, localized | MONDO:0030527 | UMLS ID:C5562011 | OMIM ID:619594" +BMGC_DS18591,BMG_DS071361,"OMIM ID:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES | MONDO:0859202 | UMLS ID:C5562012 | OMIM ID:611421 | developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities" +BMGC_DS18592,BMG_DS071362,"RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE | OMIM ID:619598 | rhizomelic dysplasia, Ain-Naz type | UMLS ID:C5562013 | OMIM ID:616510 | MONDO:0859203" +BMGC_DS18593,BMG_DS071363,"epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE | MONDO:0030535 | UMLS ID:C5562014 | OMIM ID:619599" +BMGC_DS18594,BMG_DS071364,"OMIM ID:619602 | OMIM ID:182340 | fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | UMLS ID:C5562015 | FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES | MONDO:0859204" +BMGC_DS18595,BMG_DS071365,MONDO:0030471 | OMIM ID:617436 | GALLOWAY-MOWAT SYNDROME 9 | Galloway-Mowat syndrome 9 | UMLS ID:C5562016 | OMIM ID:619603 +BMGC_DS18596,BMG_DS071366,UMLS ID:C5562017 | OMIM ID:182340 | DOID:0070384 | MONDO:0030472 | developmental and epileptic encephalopathy 98 | OMIM ID:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 +BMGC_DS18597,BMG_DS071367,OMIM ID:619606 | DOID:0070385 | MONDO:0030473 | developmental and epileptic encephalopathy 99 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 | OMIM ID:182350 | UMLS ID:C5562018 +BMGC_DS18598,BMG_DS071368,"MONDO:0030475 | UMLS ID:C5562019 | OMIM ID:619608 | HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY | heterotaxy, visceral, 11, autosomal, with male infertility | OMIM ID:605152" +BMGC_DS18599,BMG_DS071369,Galloway-Mowat syndrome 10 | OMIM ID:612276 | OMIM ID:619609 | UMLS ID:C5562020 | MONDO:0030476 | GALLOWAY-MOWAT SYNDROME 10 +BMGC_DS18600,BMG_DS071370,interstitial lung disease 1 | OMIM ID:619611 | UMLS ID:C5562021 | INTERSTITIAL LUNG DISEASE 1 | OMIM ID:178630 | DOID:0060941 | MONDO:0030608 +BMGC_DS18601,BMG_DS071371,MONDO:0030619 | retinitis pigmentosa 92 | RETINITIS PIGMENTOSA 92 | UMLS ID:C5562022 | OMIM ID:619614 | OMIM ID:617221 +BMGC_DS18602,BMG_DS071372,"OMIM ID:619615 | OMIM ID:619578 | UMLS ID:C5562023 | MONDO:0030480 | DEAFNESS, AUTOSOMAL RECESSIVE 119 | hearing loss, autosomal recessive 119" +BMGC_DS18603,BMG_DS071373,UMLS ID:C5562024 | OMIM ID:619578 | NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY | neurodevelopmental disorder with hearing loss and spasticity | MONDO:0859206 | OMIM ID:619616 +BMGC_DS18604,BMG_DS071374,"MONDO:0030482 | spastic paraplegia 84, autosomal recessive | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE | OMIM ID:600286 | OMIM ID:619621 | UMLS ID:C5562025 | DOID:0112347 | hereditary spastic paraplegia 84" +BMGC_DS18605,BMG_DS071375,OMIM ID:604895 | OMIM ID:619630 | IMMUNODEFICIENCY 88 | immunodeficiency 88 | UMLS ID:C5562026 | MONDO:0030483 +BMGC_DS18606,BMG_DS071376,OMIM ID:619632 | MONDO:0030484 | OMIM ID:607209 | immunodeficiency 89 and autoimmunity | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY | UMLS ID:C5562027 +BMGC_DS18607,BMG_DS071377,acromesomelic dysplasia 4 | OMIM ID:601591 | MONDO:0030553 | UMLS ID:C5562028 | OMIM ID:619636 | ACROMESOMELIC DYSPLASIA 4 | acromesomelic dysplasia-4 | DOID:0081238 +BMGC_DS18608,BMG_DS071378,OMIM ID:608549 | dystonia 32 | DOID:0060939 | MONDO:0030486 | UMLS ID:C5562029 | DYSTONIA 32 | OMIM ID:619637 +BMGC_DS18609,BMG_DS071379,"OMIM ID:601591 | UMLS ID:C5562030 | spondylometaphyseal dysplasia, pagnamenta type | OMIM ID:619638 | MONDO:0030487 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE" +BMGC_DS18610,BMG_DS071380,OMIM ID:603753 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY | OMIM ID:619639 | MONDO:0859207 | neurodevelopmental disorder with hypotonia and gross motor and speech delay | UMLS ID:C5562031 +BMGC_DS18611,BMG_DS071381,DOID:0070408 | UMLS ID:C5562032 | Hengel-Maroofian-Schols syndrome | MONDO:0859208 | OMIM ID:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME | OMIM ID:607470 +BMGC_DS18612,BMG_DS071382,UMLS ID:C5562033 | MONDO:0030490 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11 | OMIM ID:619643 | oocyte maturation defect 11 | OMIM ID:608860 +BMGC_DS18613,BMG_DS071383,UMLS ID:C5562034 | DOID:0112357 | spermatogenic failure 59 | MONDO:0030492 | OMIM ID:617131 | OMIM ID:619645 | SPERMATOGENIC FAILURE 59 +BMGC_DS18614,BMG_DS071384,MONDO:0030493 | OMIM ID:617332 | SPERMATOGENIC FAILURE 60 | UMLS ID:C5562035 | OMIM ID:619646 | DOID:0112355 | spermatogenic failure 60 +BMGC_DS18615,BMG_DS071385,"UMLS ID:C5562036 | OMIM ID:619647 | OMIM ID:600293 | MONDO:0030625 | dyskinesia with orofacial involvement, autosomal recessive | DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE" +BMGC_DS18616,BMG_DS071386,Zaki syndrome | OMIM ID:619648 | UMLS ID:C5562037 | OMIM ID:611514 | DOID:0070473 | ZAKI SYNDROME | MONDO:0859209 +BMGC_DS18617,BMG_DS071387,NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA | OMIM ID:600293 | MONDO:0859211 | neurodevelopmental disorder with hyperkinetic movements and dyskinesia | UMLS ID:C5562038 | OMIM ID:619651 +BMGC_DS18618,BMG_DS071388,immunodeficiency 92 | IMMUNODEFICIENCY 92 | OMIM ID:164910 | MONDO:0030498 | OMIM ID:619652 | UMLS ID:C5562039 +BMGC_DS18619,BMG_DS071389,"OMIM ID:619653 | neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | UMLS ID:C5562040 | MONDO:0859212 | OMIM ID:601995 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS" +BMGC_DS18620,BMG_DS071390,LOEYS-DIETZ SYNDROME 6 | Loeys-Dietz syndrome 6 | OMIM ID:601366 | MONDO:0030500 | OMIM ID:619656 | UMLS ID:C5562041 | DOID:0060964 +BMGC_DS18621,BMG_DS071391,"congenital heart defects, multiple types, 8, with or without heterotaxy | OMIM ID:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY | MONDO:0859213 | UMLS ID:C5562042" +BMGC_DS18622,BMG_DS071392,"cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | OMIM ID:619658 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS | OMIM ID:617431 | UMLS ID:C5562043 | MONDO:0030503" +BMGC_DS18623,BMG_DS071393,"MONDO:0030634 | OMIM ID:619661 | OMIM ID:601065 | leukoencephalopathy, hereditary diffuse, with spheroids 2 | UMLS ID:C5562044 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2" +BMGC_DS18624,BMG_DS071394,"UMLS ID:C5562045 | OMIM ID:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 | MONDO:0030505 | OMIM ID:611278 | cholestasis, progressive familial intrahepatic, 8" +BMGC_DS18625,BMG_DS071395,DOID:0061013 | OVARIAN DYSGENESIS 9 | MONDO:0030506 | UMLS ID:C5562046 | ovarian dysgenesis 9 | OMIM ID:619665 | OMIM ID:615384 +BMGC_DS18626,BMG_DS071396,MONDO:0030507 | DOID:0112350 | UMLS ID:C5562048 | OMIM ID:608489 | SPERMATOGENIC FAILURE 61 | spermatogenic failure 61 | OMIM ID:619672 +BMGC_DS18627,BMG_DS071397,OMIM ID:612041 | SPERMATOGENIC FAILURE 62 | spermatogenic failure 62 | OMIM ID:619673 | DOID:0112351 | MONDO:0030508 | UMLS ID:C5562049 +BMGC_DS18628,BMG_DS071398,Marbach-Schaaf neurodevelopmental syndrome | UMLS ID:C5562050 | MONDO:0859214 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME | OMIM ID:619680 | OMIM ID:176911 +BMGC_DS18629,BMG_DS071399,"OMIM ID:602736 | early-onset dystonia and/or spastic paraplegia | dystonia, early-onset, and/or spastic paraplegia | UMLS ID:C5562051 | DOID:0070445 | DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA | MONDO:0859215 | OMIM ID:619681" +BMGC_DS18630,BMG_DS071400,"OMIM ID:619685 | OMIM ID:616465 | MONDO:0859216 | neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS | UMLS ID:C5562052" +BMGC_DS18631,BMG_DS071401,"hereditary spastic paraplegia 85 | spastic paraplegia 85, autosomal recessive | OMIM ID:614649 | UMLS ID:C5562053 | OMIM ID:619686 | MONDO:0030512 | DOID:0112345 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE" +BMGC_DS18632,BMG_DS071402,DOID:0060940 | MONDO:0030513 | OMIM ID:176871 | OMIM ID:619687 | DYSTONIA 33 | dystonia 33 | UMLS ID:C5562054 +BMGC_DS18633,BMG_DS071403,DOID:0112356 | OMIM ID:619689 | MONDO:0030515 | UMLS ID:C5562055 | spermatogenic failure 63 | SPERMATOGENIC FAILURE 63 | OMIM ID:619655 +BMGC_DS18634,BMG_DS071404,Brunet-Wagner neurodevelopmental syndrome | MONDO:0859217 | OMIM ID:180203 | OMIM ID:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME | UMLS ID:C5562056 +BMGC_DS18635,BMG_DS071405,"nonphotosensitive trichothiodystrophy 8 | OMIM ID:619691 | OMIM ID:601065 | trichothiodystrophy 8, nonphotosensitive | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE | MONDO:0030517 | DOID:0061023 | UMLS ID:C5562057" +BMGC_DS18636,BMG_DS071406,"OMIM ID:156560 | trichothiodystrophy 9, nonphotosensitive | TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE | DOID:0061024 | nonphotosensitive trichothiodystrophy 9 | OMIM ID:619692 | MONDO:0030518 | UMLS ID:C5562058" +BMGC_DS18637,BMG_DS071407,"OMIM ID:601416 | agammaglobulinemia 9, autosomal recessive | OMIM ID:619693 | DOID:0081141 | agammaglobulinemia 9 | MONDO:0030519 | UMLS ID:C5562059 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE" +BMGC_DS18638,BMG_DS071408,OMIM ID:619694 | OMIM ID:619490 | developmental delay with variable neurologic and brain abnormalities | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES | MONDO:0859218 | UMLS ID:C5562060 +BMGC_DS18639,BMG_DS071409,OMIM ID:619695 | MONDO:0859219 | OMIM ID:602952 | UMLS ID:C5562061 | RAUCH-STEINDL SYNDROME | Rauch-Steindl syndrome +BMGC_DS18640,BMG_DS071410,MONDO:0030522 | DOID:0112353 | OMIM ID:619696 | SPERMATOGENIC FAILURE 64 | spermatogenic failure 64 | OMIM ID:609110 | UMLS ID:C5562062 +BMGC_DS18641,BMG_DS071411,OMIM ID:619697 | MONDO:0030523 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12 | oocyte maturation defect 12 | OMIM ID:609110 | UMLS ID:C5562063 +BMGC_DS18642,BMG_DS071412,"MUCOPOLYSACCHARIDOSIS, TYPE X | OMIM ID:610011 | MONDO:0030524 | UMLS ID:C5562064 | OMIM ID:619698 | mucopolysaccharidosis, type 10" +BMGC_DS18643,BMG_DS071413,OMIM ID:606949 | FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME | OMIM ID:619699 | Ferguson-Bonni neurodevelopmental syndrome | MONDO:0859220 | UMLS ID:C5562065 +BMGC_DS18644,BMG_DS071414,Yoon-Bellen neurodevelopmental syndrome | UMLS ID:C5562066 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME | DOID:0070468 | OMIM ID:617513 | MONDO:0859221 | OMIM ID:619701 +BMGC_DS18645,BMG_DS071415,spermatogenic failure 65 | MONDO:0030531 | OMIM ID:617277 | DOID:0112354 | UMLS ID:C5562067 | SPERMATOGENIC FAILURE 65 | OMIM ID:619712 +BMGC_DS18646,BMG_DS071416,"congenital disorder of glycosylation, type Iw, autosomal dominant | OMIM ID:619714 | UMLS ID:C5562068 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT | OMIM ID:601134 | MONDO:0859223" +BMGC_DS18647,BMG_DS071417,"UMLS ID:C5562069 | OMIM ID:619449 | MONDO:0030339 | MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE | OMIM ID:619453 | microcephaly 28, primary, autosomal recessive" +BMGC_DS18648,BMG_DS071418,IMMUNODEFICIENCY 87 AND AUTOIMMUNITY | OMIM ID:610094 | UMLS ID:C5562070 | MONDO:0030457 | immunodeficiency 87 and autoimmunity | OMIM ID:619573 +BMGC_DS18649,BMG_DS071419,OMIM ID:615018 | UMLS ID:C5562071 | Sd(a) POLYAGGLUTINATION SYNDROME +BMGC_DS18650,BMG_DS071420,"heterotaxy, visceral, 10, autosomal, with male infertility | UMLS ID:C5562072 | HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY | OMIM ID:619607 | MONDO:0030474 | OMIM ID:609804" +BMGC_DS18651,BMG_DS071421,OMIM ID:619644 | UMLS ID:C5562073 | MONDO:0030491 | OMIM ID:618931 | immunodeficiency 91 and hyperinflammation | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION +BMGC_DS18652,BMG_DS071422,"DOID:0070397 | leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy | hypomyelinating leukodystrophy 23 | OMIM ID:616136 | MONDO:0030514 | UMLS ID:C5562074 | OMIM ID:619688 | LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY" +BMGC_DS18653,BMG_DS071423,"MONDO:0800026 | central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | OMIM ID:209880 | UMLS ID:C5562075 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1 | OMIM ID:603851" +BMGC_DS18654,BMG_DS071424,OMIM ID:619649 | chromosome 16q12 duplication syndrome | MONDO:0859210 | UMLS ID:C5562082 | CHROMOSOME 16q12 DUPLICATION SYNDROME +BMGC_DS18655,BMG_DS071444,"ANOSMIA, ISOLATED CONGENITAL, X-LINKED | OMIM ID:301700 | anosmia, isolated congenital, X-linked | UMLS ID:C5562112 | MONDO:0100469" +BMGC_DS18656,BMG_DS071446,"UMLS ID:C5562114 | OMIM ID:619343 | chromosome 1p36 deletion syndrome, proximal | MONDO:0859155 | CHROMOSOME 1p36 DELETION SYNDROME, PROXIMAL" +BMGC_DS18657,BMG_DS071453,MeSH ID:C537480 | Miyoshi muscular dystrophy | DOID:0070198 | mmd1 myopathy | UMLS ID:C5565781 +BMGC_DS18658,BMG_DS071477,Angelman syndrome due to maternal monosomy 15q11q13 (disorder) | SNOMEDCT ID:1162462009 | Angelman syndrome due to maternal monosomy 15q11q13 | Angelman syndrome due to maternal 15q11q13 deletion | MONDO:0020302 | UMLS ID:C5566334 +BMGC_DS18659,BMG_DS071499,Mayer Rokitansky Küster Hauser syndrome type 1 | UMLS ID:C5566555 | OMIM ID:277000 | Mayer-Rokitansky-Kuster-Hauser syndrome type 1 | MONDO:0010173 | MRKH (Mayer Rokitansky Küster Hauser) syndrome type 1 | SNOMEDCT ID:1162832007 | Mayer Rokitansky Küster Hauser syndrome type 1 (disorder) +BMGC_DS18660,BMG_DS071509,UMLS ID:C5566614 | Glycogenosis type 13 | Glycogen storage disease due to muscle beta-enolase deficiency (disorder) | GSDXIII - glycogen storage disease type XIII | Muscle enolase deficiency | SNOMEDCT ID:1162916008 | Glycogenosis due to muscle beta-enolase deficiency | Glycogen storage disease due to muscle beta-enolase deficiency +BMGC_DS18661,BMG_DS071649,"X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome | SNOMEDCT ID:1167372000 | X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) | UMLS ID:C5567226" +BMGC_DS18662,BMG_DS071650,childhood-onset neurodegeneration with brain atrophy | DOID:0070474 | SNOMEDCT ID:1167373005 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (disorder) | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | UMLS ID:C5567227 +BMGC_DS18663,BMG_DS071652,"Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) | MONDO:0044696 | UMLS ID:C5567229 | SNOMEDCT ID:1169356004 | Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome | OMIM ID:617669 | early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome" +BMGC_DS18664,BMG_DS071661,Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder) | Low density lipoprotein receptor-related protein 5 related primary osteoporosis | MONDO:0044675 | SNOMEDCT ID:1169364005 | LRP5-related primary osteoporosis | UMLS ID:C5567241 +BMGC_DS18665,BMG_DS071703,MONDO:0044657 | UMLS ID:C5567450 | MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 | Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) | Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 | SNOMEDCT ID:1172585006 | MME-related autosomal dominant Charcot Marie Tooth disease type 2 +BMGC_DS18666,BMG_DS071704,"Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | MONDO:0044651 | UMLS ID:C5567451 | Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | SNOMEDCT ID:1172588008" +BMGC_DS18667,BMG_DS071705,"MONDO:0044648 | SNOMEDCT ID:1172590009 | Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome (disorder) | kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | UMLS ID:C5567452 | Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome" +BMGC_DS18668,BMG_DS071706,"Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome (disorder) | Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome | SNOMEDCT ID:1172591008 | MONDO:0044647 | UMLS ID:C5567453 | kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome" +BMGC_DS18669,BMG_DS071707,"early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | SNOMEDCT ID:1172593006 | UMLS ID:C5567454 | OMIM ID:617193 | MONDO:0044646 | Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome | Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)" +BMGC_DS18670,BMG_DS071708,"UMLS ID:C5567455 | Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome (disorder) | MONDO:0044643 | SNOMEDCT ID:1172594000 | congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome | Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome" +BMGC_DS18671,BMG_DS071709,Hypomyelinating leukodystrophy due to HIKESHI deficiency | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) | SNOMEDCT ID:1172595004 | C11ORF73-related autosomal recessive hypomyelinating leucoencephalopathy | C11ORF73-related autosomal recessive hypomyelinating leucodystrophy | C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy | c11orf73-related autosomal recessive hypomyelinating leukodystrophy | MONDO:0044642 | Hypomyelinating leucodystrophy due to HIKESHI deficiency | UMLS ID:C5567456 | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy +BMGC_DS18672,BMG_DS071710,Childhood-onset benign chorea with striatal involvement | childhood-onset benign chorea with striatal involvement | Childhood-onset benign chorea with striatal involvement (disorder) | SNOMEDCT ID:1172602000 | UMLS ID:C5567463 | MONDO:0044332 +BMGC_DS18673,BMG_DS071711,"infantile-onset generalized dyskinesia with orofacial involvement | Infantile-onset generalized dyskinesia with orofacial involvement (disorder) | Infantile-onset generalized dyskinesia with orofacial involvement | MONDO:0044637 | Infantile-onset generalised dyskinesia with orofacial involvement | SNOMEDCT ID:1172603005 | OMIM ID:616921 | UMLS ID:C5567464 | Infantile-onset orofacial, trunk, limbs dyskinesia" +BMGC_DS18674,BMG_DS071712,"Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder) | Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome | SNOMEDCT ID:1172604004 | DIAPH1-related sensorineural deafness, thrombocytopenia syndrome | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | UMLS ID:C5567465 | MONDO:0044635" +BMGC_DS18675,BMG_DS071713,"UMLS ID:C5567466 | SNOMEDCT ID:1172605003 | Retinitis pigmentosa, deafness, premature ageing, short stature, facial dysmorphism syndrome | Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome | Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome | Retinitis pigmentosa, deafness, premature aging, short stature, facial dysmorphism syndrome | Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)" +BMGC_DS18676,BMG_DS071715,Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome | Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome (disorder) | RERE-related neurodevelopmental syndrome | SNOMEDCT ID:1172624000 | UMLS ID:C5567477 +BMGC_DS18677,BMG_DS071716,DDX41-related haematologic malignancy predisposition syndrome | DEAD-box helicase 41-related hematologic malignancy predisposition syndrome | UMLS ID:C5567478 | DEAD-box helicase 41-related hematologic malignancy predisposition syndrome (disorder) | SNOMEDCT ID:1172625004 | DEAD-box helicase 41-related haematologic malignancy predisposition syndrome | DDX41-related hematologic malignancy predisposition syndrome +BMGC_DS18678,BMG_DS071717,"UMLS ID:C5567479 | PIGG-CDG - congenital disorder of glycosylation due to PIGG deficiency | Congenital disorder of glycosylation due to PIGG (phosphatidylinositol glycan anchor biosynthesis class G) 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 | Early-onset epilepsy, intellectual disability, brain anomalies syndrome" +BMGC_DS18679,BMG_DS071718,"DOID:0060935 | infantile hypotonia with psychomotor retardation and characteristic facies-3 | hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | OMIM ID:616900 | UMLS ID:C5567480 | SNOMEDCT ID:1172628002 | TBCK-related intellectual disability syndrome | TBC1 domain containing kinase-related intellectual disability syndrome | TBC1 domain containing kinase-related intellectual disability syndrome (disorder) | MONDO:0014823" +BMGC_DS18680,BMG_DS071719,"SNOMEDCT ID:1172629005 | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder) | UMLS ID:C5567481" +BMGC_DS18681,BMG_DS071720,"MONDO:0024252 | UMLS ID:C5567482 | Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | obsolete global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder) | SNOMEDCT ID:1172630000" +BMGC_DS18682,BMG_DS071721,UMLS ID:C5567483 | OMIM ID:616907 | Autosomal recessive spastic paraplegia type 76 | MONDO:0014827 | Autosomal recessive spastic paraplegia type 76 (disorder) | autosomal recessive spastic paraplegia type 76 | SNOMEDCT ID:1172631001 +BMGC_DS18683,BMG_DS071722,SIX homeobox 2-related frontonasal dysplasia | six2-related frontonasal dysplasia | UMLS ID:C5567484 | SNOMEDCT ID:1172632008 | SIX2-related frontonasal dysplasia | MONDO:0044628 | SIX homeobox 2-related frontonasal dysplasia (disorder) +BMGC_DS18684,BMG_DS071723,Autosomal dominant Charcot-Marie-Tooth disease type 2W | autosomal dominant Charcot-Marie-Tooth disease type 2W | 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 (disorder) | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation | MONDO:0014711 | OMIM ID:616625 | UMLS ID:C5567486 +BMGC_DS18685,BMG_DS071724,"Split-foot malformation, mesoaxial polydactyly syndrome | OMIM ID:616890 | split-foot malformation-mesoaxial polydactyly syndrome | MONDO:0014816 | SNOMEDCT ID:1172635005 | SFMMP (split-foot malformation, mesoaxial polydactyly) syndrome | Split-foot malformation, mesoaxial polydactyly, nail abnormalities, sensorineural hearing loss syndrome | Split-foot malformation, mesoaxial polydactyly syndrome (disorder) | UMLS ID:C5567487" +BMGC_DS18686,BMG_DS071726,female infertility due to oocyte meiotic arrest | UMLS ID:C5567489 | MONDO:0044626 +BMGC_DS18687,BMG_DS071730,"microcephaly-congenital cataract-psoriasiform dermatitis syndrome | SNOMEDCT ID:1172683008 | Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder) | UMLS ID:C5567510 | MONDO:0014793 | SMO (sterol-C4-methyl oxidase) deficiency | Sterol-C4-methyl oxidase deficiency | OMIM ID:616834 | Microcephaly, congenital cataract, psoriasiform dermatitis syndrome" +BMGC_DS18688,BMG_DS071731,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 DGAT2 mutation | MONDO:0044625 | UMLS ID:C5567515 | 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 +BMGC_DS18689,BMG_DS071732,Prenatal-onset spinal muscular atrophy with congenital bone fractures | UMLS ID:C5567518 | SNOMEDCT ID:1172689007 | prenatal-onset spinal muscular atrophy with congenital bone fractures | MONDO:0000209 | Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) +BMGC_DS18690,BMG_DS071734,"UMLS ID:C5567520 | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome | SNOMEDCT ID:1172692006 | X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome | MONDO:0044617 | X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome (disorder)" +BMGC_DS18691,BMG_DS071735,"Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) | Adenylosuccinate synthetase-like 1-related distal myopathy | MONDO:0014877 | ADSSL1-related distal myopathy | SNOMEDCT ID:1172694007 | myopathy, distal, 5 | UMLS ID:C5567521 | OMIM ID:617030" +BMGC_DS18692,BMG_DS071736,"Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) | MONDO:0018822 | SNOMEDCT ID:1172696009 | Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome | global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | UMLS ID:C5567522" +BMGC_DS18693,BMG_DS071737,"MONDO:0018821 | UMLS ID:C5567523 | 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 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | SNOMEDCT ID:1172697000 | X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder)" +BMGC_DS18694,BMG_DS071738,"Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) | Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome | UMLS ID:C5567524 | MONDO:0018820 | Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome | OMIM ID:616878 | 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" +BMGC_DS18695,BMG_DS071741,"SNOMEDCT ID:1172705006 | lethal hydranencephaly-diaphragmatic hernia syndrome | MONDO:0018810 | UMLS ID:C5567527 | Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Lethal hydranencephaly, diaphragmatic hernia syndrome" +BMGC_DS18696,BMG_DS071744,"Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) | SNOMEDCT ID:1172839002 | Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | UMLS ID:C5567603" +BMGC_DS18697,BMG_DS071745,Combined oxidative phosphorylation defect type 30 | SNOMEDCT ID:1172841001 | combined oxidative phosphorylation defect type 30 | OMIM ID:616974 | COXPD30 - combined oxidative phosphorylation defect type 30 | MONDO:0014856 | UMLS ID:C5567605 | Combined oxidative phosphorylation defect type 30 (disorder) +BMGC_DS18698,BMG_DS071746,UMLS ID:C5567607 | combined oxidative phosphorylation deficiency 29 | MONDO:0014781 | OMIM ID:616811 | Combined oxidative phosphorylation defect type 29 (disorder) | COXPD29 - combined oxidative phosphorylation defect type 29 | Combined oxidative phosphorylation defect type 29 | SNOMEDCT ID:1172843003 +BMGC_DS18699,BMG_DS071747,OMIM ID:616672 | SNOMEDCT ID:1172844009 | Combined oxidative phosphorylation defect type 27 | Combined oxidative phosphorylation defect type 27 (disorder) | COXPD27 - combined oxidative phosphorylation defect type 27 | UMLS ID:C5567608 | combined oxidative phosphorylation defect type 27 | MONDO:0014728 +BMGC_DS18700,BMG_DS071748,"UMLS ID:C5567644 | SNOMEDCT ID:1172889005 | 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)" +BMGC_DS18701,BMG_DS071749,UMLS ID:C5567647 | SNOMEDCT ID:1172892009 | MONDO:0014710 | Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation | OMIM ID:616622 | Autosomal recessive MSMD (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 mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder) | autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | Autosomal recessive primary immunodeficiency due to RORC mutation +BMGC_DS18702,BMG_DS071750,"SNOMEDCT ID:1172900005 | OMIM ID:616632 | Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder) | Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | MONDO:0014714 | UMLS ID:C5567650 | progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" +BMGC_DS18703,BMG_DS071751,Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency | UMLS ID:C5567651 | OMIM ID:618372 | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder) | SNOMEDCT ID:1172901009 | MONDO:0018794 | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | PLA2G4A (phospholipase A2 group IVA) related platelet dysfunction | PLA2G4A-related platelet dysfunction | cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder +BMGC_DS18704,BMG_DS071758,UMLS ID:C5567741 | SNOMEDCT ID:1173034002 | COXPD26 - combined oxidative phosphorylation defect type 26 | MONDO:0014684 | OMIM ID:616539 | Combined oxidative phosphorylation defect type 26 | Combined oxidative phosphorylation defect type 26 (disorder) | combined oxidative phosphorylation defect type 26 +BMGC_DS18705,BMG_DS071759,Combined oxidative phosphorylation defect type 25 | UMLS ID:C5567742 | OMIM ID:616430 | COXPD25 - combined oxidative phosphorylation defect type 25 | combined oxidative phosphorylation defect type 25 | SNOMEDCT ID:1173035001 | MONDO:0014636 | Combined oxidative phosphorylation defect type 25 (disorder) +BMGC_DS18706,BMG_DS071760,Combined oxidative phosphorylation defect type 23 (disorder) | COXPD23 - combined oxidative phosphorylation defect type 23 | combined oxidative phosphorylation defect type 23 | MONDO:0014525 | UMLS ID:C5567743 | OMIM ID:616198 | SNOMEDCT ID:1173036000 | Combined oxidative phosphorylation defect type 23 +BMGC_DS18707,BMG_DS071762,"neurodevelopmental disorder with spastic paraplegia and microcephaly | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder) | SNOMEDCT ID:1173998003 | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | DOID:0070542 | UMLS ID:C5567787" +BMGC_DS18708,BMG_DS071763,Interleukin 21 related infantile inflammatory bowel disease (disorder) | MONDO:0014338 | Interleukin 21 related infantile inflammatory bowel disease | SNOMEDCT ID:1173999006 | OMIM ID:615767 | UMLS ID:C5567788 | IL21-related infantile inflammatory bowel disease +BMGC_DS18709,BMG_DS071764,congenital generalized hypercontractile muscle stiffness syndrome | Congenital generalized hypercontractile muscle stiffness syndrome (disorder) | Congenital generalized hypercontractile muscle stiffness syndrome | SNOMEDCT ID:1174000008 | Congenital generalised hypercontractile muscle stiffness syndrome | MONDO:0018780 | UMLS ID:C5567789 +BMGC_DS18710,BMG_DS071770,MRSA (Methicillin resistant Staphylococcus aureus) skin infection | Skin infection caused by Methicillin resistant Staphylococcus aureus (disorder) | Methicillin resistant Staphylococcus aureus skin infection | UMLS ID:C5567802 | Skin infection caused by Methicillin resistant Staphylococcus aureus | SNOMEDCT ID:1176997000 +BMGC_DS18711,BMG_DS071810,Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder) | PMP2-related Charcot-Marie-Tooth neuropathy type 1 | Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 | PMP2-related hereditary motor and sensory neuropathy type 1 | UMLS ID:C5567891 | PMP2-related Charcot-Marie-Tooth disease type 1 | SNOMEDCT ID:1177165005 +BMGC_DS18712,BMG_DS071812,OMIM ID:617225 | UMLS ID:C5567893 | Autosomal recessive spastic paraplegia type 78 | Autosomal recessive spastic paraplegia type 78 (disorder) | autosomal recessive spastic paraplegia type 78 | SNOMEDCT ID:1177168007 | MONDO:0014975 | SPG78 - autosomal recessive spastic paraplegia type 78 +BMGC_DS18713,BMG_DS071816,"congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | MONDO:0033683 | MYSM1 deficiency | SNOMEDCT ID:1177173001 | Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome | UMLS ID:C5567897 | MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency | Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder)" +BMGC_DS18714,BMG_DS071818,"Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency | UMLS ID:C5567899 | EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome | Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | SNOMEDCT ID:1177175008 | EXTL3-related neuro-immuno-skeletal dysplasia syndrome | MONDO:0033682 | Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome | skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 (exostosin like glycosyltransferase 3) deficiency" +BMGC_DS18715,BMG_DS071819,Hyperphenylalanineaemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency | Non-phenylketonuric non-BH4-deficiency hyperphenylalanineaemia | Hyperphenylalanineaemia due to DNAJC12 deficiency | Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia | UMLS ID:C5567900 | Hyperphenylalaninemia due to DNAJC12 deficiency | Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency (disorder) | Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency | SNOMEDCT ID:1177177000 +BMGC_DS18716,BMG_DS071820,"intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome | Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome | SNOMEDCT ID:1177178005 | UMLS ID:C5567901 | MONDO:0034991 | Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder)" +BMGC_DS18717,BMG_DS071822,UMLS ID:C5567903 | OFD18 - oral-facial-digital syndrome type 18 | Oral-facial-digital syndrome with short stature and brachymesophalangia | MONDO:0054770 | OMIM ID:617927 | SNOMEDCT ID:1177179002 | Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder) | Orofaciodigital syndrome type 18 | orofaciodigital syndrome 18 +BMGC_DS18718,BMG_DS071851,"Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract (disorder) | UMLS ID:C5568106 | SNOMEDCT ID:1179282009" +BMGC_DS18719,BMG_DS071852,"Metopic ridging, ptosis, facial dysmorphism syndrome | SNOMEDCT ID:1179283004 | | Weiss-Kruszka syndrome | UMLS ID:C5568107 | OMIM ID:618619 | MONDO:0032836 | Metopic ridging, ptosis, facial dysmorphism syndrome (disorder)" +BMGC_DS18720,BMG_DS071853,SNOMEDCT ID:1179285006 | UMLS ID:C5568123 | MSN (moesin) related combined immunodeficiency | Combined immunodeficiency due to moesin deficiency | combined immunodeficiency due to moesin deficiency | OMIM ID:300988 | X-linked moesin-associated immunodeficiency | Combined immunodeficiency due to moesin deficiency (disorder) | MONDO:0010514 +BMGC_DS18721,BMG_DS071854,"SNOMEDCT ID:1179286007 | Combined immunodeficiency due to GINS complex subunit 1 deficiency | MONDO:0044725 | OMIM ID:617827 | Combined immunodeficiency due to GINS1 deficiency | UMLS ID:C5568132 | combined immunodeficiency due to GINS1 deficiency | Combined immunodeficiency with intrauterine growth retardation, NK (natural killer) cell deficiency, neutropenia | Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) | Combined immunodeficiency due to GINS1 (GINS complex subunit 1) deficiency" +BMGC_DS18722,BMG_DS071855,Combined immunodeficiency due to transferrin receptor deficiency | Combined immunodeficiency due to TFRC deficiency | TFRC (transferrin receptor) related combined immunodeficiency | MONDO:0014760 | DOID:0111948 | Combined immunodeficiency due to transferrin receptor deficiency (disorder) | OMIM ID:616740 | UMLS ID:C5568133 | SNOMEDCT ID:1179288008 | TFRC-related combined immunodeficiency | immunodeficiency 46 +BMGC_DS18723,BMG_DS071856,Erythrokeratodermia cardiomyopathy syndrome (disorder) | Erythrokeratodermia cardiomyopathy syndrome | SNOMEDCT ID:1179293006 | EKC (erythrokeratodermia cardiomyopathy) syndrome | UMLS ID:C5568136 +BMGC_DS18724,BMG_DS071857,"MONDO:0018773 | Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (disorder) | Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | UMLS ID:C5568137 | autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome | SNOMEDCT ID:1179294000" +BMGC_DS18725,BMG_DS071858,"Limb girdle muscular dystrophy 2X | UMLS ID:C5568138 | BVES-related limb girdle muscular dystrophy | autosomal recessive limb-girdle muscular dystrophy type 2X | BVES (blood vessel epicardial substance) related limb girdle muscular dystrophy | OMIM ID:616812 | Blood vessel epicardial substance related limb girdle muscular dystrophy | SNOMEDCT ID:1179295004 | Autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome | Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | MONDO:0014782" +BMGC_DS18726,BMG_DS071859,Familial PDA (patent ductus arteriosus) | Familial patent arterial duct | UMLS ID:C5568140 | Familial patent arterial duct (disorder) | SNOMEDCT ID:1179298002 +BMGC_DS18727,BMG_DS071860,"NEK9-related lethal skeletal dysplasia | Lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome | MONDO:0014870 | NIMA related kinase 9 lethal skeletal dysplasia (disorder) | Lethal skeletal dysplasia, foetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome | NIMA related kinase 9 lethal skeletal dysplasia | OMIM ID:617022 | SNOMEDCT ID:1179299005 | UMLS ID:C5568141" +BMGC_DS18728,BMG_DS071861,MONDO:0013578 | UMLS ID:C5568143 | DYRK1A-related intellectual disability syndrome | OMIM ID:614104 +BMGC_DS18729,BMG_DS071903,"MONDO:0033968 | SNOMEDCT ID:1186654001 | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome | UMLS ID:C5568533 | immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" +BMGC_DS18730,BMG_DS071905,SNOMEDCT ID:1186712009 | Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency | Combined immunodeficiency due to RLTPR deficiency | UMLS ID:C5568557 | Combined immunodeficiency due to CARMIL2 deficiency | Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency (disorder) +BMGC_DS18731,BMG_DS071906,"SNOMEDCT ID:1186713004 | Growth delay, intellectual disability, hepatopathy syndrome (disorder) | UMLS ID:C5568558 | Growth delay, intellectual disability, hepatopathy syndrome" +BMGC_DS18732,BMG_DS071907,UMLS ID:C5568559 | severe combined immunodeficiency due to CD70 deficiency | SNOMEDCT ID:1186715006 | MONDO:0034054 | Combined immunodeficiency due to CD70 deficiency (disorder) | Combined immunodeficiency due to CD70 deficiency | OMIM ID:618261 +BMGC_DS18733,BMG_DS071908,"UMLS ID:C5568562 | MONDO:0014562 | SNOMEDCT ID:1186718008 | neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | COQ4-related neonatal encephalomyopathy | Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Coenzyme Q4-related neonatal encephalomyopathy | Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome | OMIM ID:616276" +BMGC_DS18734,BMG_DS071909,"CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) | CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome | SNOMEDCT ID:1186720006 | UMLS ID:C5568564 | CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome | CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome | MONDO:0035437 | CAIN (CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome" +BMGC_DS18735,BMG_DS071912,HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease | HTRA1-related autosomal dominant cerebral angiopathy | HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) | UMLS ID:C5568568 | MONDO:0018832 | SNOMEDCT ID:1186724002 | HTRA1-related autosomal dominant cerebral small vessel disease +BMGC_DS18736,BMG_DS071916,"SNOMEDCT ID:1186729007 | intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | UMLS ID:C5568572 | Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome | MONDO:0034989 | Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder)" +BMGC_DS18737,BMG_DS071917,UMLS ID:C5568576 | MONDO:0044737 | 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 +BMGC_DS18738,BMG_DS071934,Atypical pantothenate kinase associated neurodegeneration (disorder) | UMLS ID:C5568621 | SNOMEDCT ID:1186856001 | Atypical pantothenate kinase associated neurodegeneration | MONDO:0016305 | atypical pantothenate kinase-associated neurodegeneration +BMGC_DS18739,BMG_DS071992,complex neurodevelopmental disorder | UMLS ID:C5568766 | MONDO:0100038 +BMGC_DS18740,BMG_DS071994,"Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 (sphingosine-1-phosphate lyase 1) deficiency | Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) | Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 deficiency | SNOMEDCT ID:1187040004 | UMLS ID:C5568768" +BMGC_DS18741,BMG_DS071995,"UMLS ID:C5568769 | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome (disorder) | STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | SNOMEDCT ID:1187041000 | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome | STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome" +BMGC_DS18742,BMG_DS071996,"SNOMEDCT ID:1187042007 | 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)" +BMGC_DS18743,BMG_DS071997,"Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome | SNOMEDCT ID:1187043002 | Cerebrorenal syndrome Perez type | UMLS ID:C5568771" +BMGC_DS18744,BMG_DS072003,Mucopolysaccharidosis-like plus disease | Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder | Mucopolysaccharidosis-like plus disease (disorder) | Mucopolysaccharidosis-like syndrome with congenital heart defect and haematopoietic disorder | SNOMEDCT ID:1187113001 | UMLS ID:C5568800 +BMGC_DS18745,BMG_DS072004,"UMLS ID:C5568801 | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder) | Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | SNOMEDCT ID:1187114007 | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome" +BMGC_DS18746,BMG_DS072005,"Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) | autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome | MONDO:0018777 | UMLS ID:C5568802 | SNOMEDCT ID:1187115008" +BMGC_DS18747,BMG_DS072017,Isolated generalized anhidrosis with normal sweat glands | OMIM ID:106190 | SNOMEDCT ID:1187178004 | Isolated generalized anhidrosis with normal sweat glands (disorder) | Isolated generalised anhidrosis with normal sweat glands | UMLS ID:C5568836 | isolated anhidrosis with normal sweat glands | MONDO:0007118 +BMGC_DS18748,BMG_DS072018,hereditary spastic paraplegia 74 | SNOMEDCT ID:1187191003 | Autosomal recessive spastic paraplegia type 74 | MONDO:0014644 | OMIM ID:616451 | UMLS ID:C5568837 | Autosomal recessive spastic paraplegia type 74 (disorder) +BMGC_DS18749,BMG_DS072019,Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder) | Chronic enteropathy associated with SLCO2A1 gene | UMLS ID:C5568838 | SNOMEDCT ID:1187194006 | chronic enteropathy associated with SLCO2A1 gene | MONDO:0018766 | Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene +BMGC_DS18750,BMG_DS072021,"SNOMEDCT ID:1187210007 | Intellectual disability, epilepsy, extrapyramidal syndrome | UMLS ID:C5568848 | Intellectual disability, epilepsy, extrapyramidal syndrome (disorder)" +BMGC_DS18751,BMG_DS072022,"SNOMEDCT ID:1187212004 | UMLS ID:C5568849 | Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome | Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)" +BMGC_DS18752,BMG_DS072023,UMLS ID:C5568850 | MONDO:0018763 | tubulinopathy-associated dysgyria +BMGC_DS18753,BMG_DS072025,Autosomal dominant thrombocytopenia with platelet secretion defect | SNOMEDCT ID:1187252002 | Autosomal dominant thrombocytopenia with platelet secretion defect (disorder) | UMLS ID:C5568864 +BMGC_DS18754,BMG_DS072027,"Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder) | Short stature, brachydactyly, obesity, global developmental delay syndrome | SBIDDS - short stature, brachydactyly, impaired intellectual development, seizures | SNOMEDCT ID:1187277001 | UMLS ID:C5568868" +BMGC_DS18755,BMG_DS072028,"UMLS ID:C5568869 | SNOMEDCT ID:1187278006 | Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) | Spastic paraplegia, severe developmental delay, epilepsy syndrome | SPPRS (spastic paraplegia, psychomotor retardation, seizures) syndrome" +BMGC_DS18756,BMG_DS072029,"OMIM ID:617173 | SNOMEDCT ID:1186711002 | UMLS ID:C5568877 | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome | GNB5-related intellectual disability, cardiac arrhythmia syndrome | gnb5-related intellectual disability-cardiac arrhythmia syndrome | MONDO:0014953 | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder)" +BMGC_DS18757,BMG_DS072030,VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder) | VPS11-related autosomal recessive hypomyelinating leucodystrophy | VPS11-related autosomal recessive hypomyelinating leucoencephalopathy | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leucodystrophy | VPS11-related autosomal recessive hypomyelinating leukoencephalopathy | SNOMEDCT ID:1187249005 | UMLS ID:C5568878 | VPS11-related autosomal recessive hypomyelinating leukodystrophy +BMGC_DS18758,BMG_DS072031,"Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) | OMIM ID:616723 | progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | UMLS ID:C5568882 | MONDO:0014748 | SNOMEDCT ID:1187303004 | Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome" +BMGC_DS18759,BMG_DS072032,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | SNOMEDCT ID:1187462006 | Glycogenosis due to phosphoglycerate kinase 1 deficiency | UMLS ID:C5568976 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) +BMGC_DS18760,BMG_DS072033,"Autosomal dominant spastic paraplegia type 9A (disorder) | hereditary spastic paraplegia 9A | MONDO:0011006 | Spastic paraparesis, amyotrophy, cataracts, gastroesophageal reflux syndrome | SNOMEDCT ID:1187465008 | Spastic paraparesis, amyotrophy, cataracts, gastro-oesophageal reflux syndrome | UMLS ID:C5568978 | OMIM ID:601162 | Autosomal dominant spastic paraplegia type 9A | Cataracts, motor neuropathy, short stature, skeletal anomalies syndrome" +BMGC_DS18761,BMG_DS072034,autosomal dominant complex spastic paraplegia type 9B | MONDO:0018644 | SNOMEDCT ID:1187466009 | Autosomal dominant spastic paraplegia type 9B (disorder) | Autosomal dominant spastic paraplegia type 9B | UMLS ID:C5568979 +BMGC_DS18762,BMG_DS072035,UMLS ID:C5568980 | OMIM ID:616586 | SNOMEDCT ID:1187467000 | Autosomal recessive spastic paraplegia type 9B | autosomal recessive complex spastic paraplegia type 9B | MONDO:0014702 | Autosomal recessive spastic paraplegia type 9B (disorder) +BMGC_DS18763,BMG_DS072036,UMLS ID:C5568981 | Autosomal dominant spastic paraplegia type 73 (disorder) | SNOMEDCT ID:1187468005 | MONDO:0014568 | OMIM ID:616282 | Autosomal dominant spastic paraplegia type 73 | hereditary spastic paraplegia 73 +BMGC_DS18764,BMG_DS072037,Autosomal recessive spastic paraplegia type 77 (disorder) | OMIM ID:617046 | Autosomal recessive spastic paraplegia type 77 | UMLS ID:C5569007 | hereditary spastic paraplegia 77 | MONDO:0014882 | SNOMEDCT ID:1187506008 +BMGC_DS18765,BMG_DS072053,"UMLS ID:C5569024 | Charcot-Marie-Tooth disease axonal type 2X | Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 (SPG11 vesicle trafficking associated, spatacsin) mutation | MONDO:0014726 | OMIM ID:616668 | Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation | SNOMEDCT ID:1187563003 | Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder) | Autosomal recessive Charcot-Marie-Tooth disease type 2X" +BMGC_DS18766,BMG_DS072054,Charcot-Marie-Tooth disease axonal type 2Z | SNOMEDCT ID:1187564009 | MONDO:0014736 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 (MORC family CW-type zinc finger 2) mutation | OMIM ID:616688 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z (disorder) | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | UMLS ID:C5569025 +BMGC_DS18767,BMG_DS072055,Autosomal dominant Charcot-Marie-Tooth disease type 2Y | Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder) | SNOMEDCT ID:1187565005 | Charcot-Marie-Tooth disease type 2Y | UMLS ID:C5569026 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP (valosin containing protein) mutation | OMIM ID:616687 | MONDO:0014735 +BMGC_DS18768,BMG_DS072056,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder) | UMLS ID:C5569027 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D | SNOMEDCT ID:1187567002 | OMIM ID:616039 | MONDO:0014467 | Charcot-Marie-Tooth disease recessive intermediate D +BMGC_DS18769,BMG_DS072057,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 TFG mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation | MONDO:0018567 | SNOMEDCT ID:1187566006 +BMGC_DS18770,BMG_DS072058,Severe autosomal recessive macrothrombocytopenia | UMLS ID:C5569048 | Severe autosomal recessive macrothrombocytopenia (disorder) | SNOMEDCT ID:1187614006 +BMGC_DS18771,BMG_DS072059,Charcot-Marie-Tooth disease axonal type 2V | SNOMEDCT ID:1187618009 | UMLS ID:C5569050 | Hereditary adult onset painful axonal polyneuropathy | MONDO:0014665 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation | OMIM ID:616491 | Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder) | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU (N-acetyl-alpha-glucosaminidase) mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2V +BMGC_DS18772,BMG_DS072060,UMLS ID:C5569051 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) | MONDO:0033850 | SNOMEDCT ID:1187619001 | autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect +BMGC_DS18773,BMG_DS072061,DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) | DNAJB2-related Charcot-Marie-Tooth disease type 2 | UMLS ID:C5569053 | SNOMEDCT ID:1187621006 | DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 +BMGC_DS18774,BMG_DS072085,COXPD28 - combined oxidative phosphorylation defect type 28 | Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect | combined oxidative phosphorylation deficiency 28 | OMIM ID:616794 | SNOMEDCT ID:1187640000 | Combined oxidative phosphorylation defect type 28 | Combined oxidative phosphorylation defect type 28 (disorder) | MONDO:0014775 | UMLS ID:C5569081 +BMGC_DS18775,BMG_DS072087,"SNOMEDCT ID:1187642008 | Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | UMLS ID:C5569083 | Macrocephaly, intellectual disability, left ventricular non compaction syndrome" +BMGC_DS18776,BMG_DS072088,"OMIM ID:616719 | Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome | SNOMEDCT ID:1187643003 | MONDO:0014744 | 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" +BMGC_DS18777,BMG_DS072160,MeSH ID:D013285 | UMLS ID:C5574650 | Heterotropia | Strabismus | Heterotropia (disorder) | SNOMEDCT ID:128602000 +BMGC_DS18778,BMG_DS072165,UMLS ID:C5574657 | Ventricular tachyarrhythmia | Ventricular tachycardia | Ventricular tachycardia (disorder) | SNOMEDCT ID:25569003 | Ventricular tachyarrhythmia (disorder) | SNOMEDCT ID:6624005 | VT - ventricular tachycardia +BMGC_DS18779,BMG_DS072166,atelosteogenesis | UMLS ID:C5574658 | MONDO:0000389 +BMGC_DS18780,BMG_DS072167,"Lactic acidosis due to LAD deficiency | MONDO:0009529 | Cytochrome-b reductase deficiency | pyruvate dehydrogenase E3 deficiency | DLD - Dihydrolipoamide dehydrogenase deficiency | Deficiency of diaphorase | Lipoamide dehydrogenase deficiency | Deficiency of lipoamide reductase (NADH) | UMLS ID:C5574660 | Dihydrolipoamide dehydrogenase deficiency | Congenital infantile lactic acidosis due to LAD deficiency | Diaphorase deficiency | Dihydrolipoyl dehydrogenase deficiency | SNOMEDCT ID:29914000 | Dihydrolipoamide dehydrogenase deficiency (disorder) | OMIM ID:246900 | Maple syrup urine disease with lactic acidosis | Deficiency of dihydrolipoamide dehydrogenase | Maple syrup urine disease, type III" +BMGC_DS18781,BMG_DS072169,"OMIM ID:609304 | developmental and epileptic encephalopathy, 3 | MeSH ID:C562695 | MONDO:0012245 | Epileptic Encephalopathy, Early Infantile, 3 | UMLS ID:C5574665" +BMGC_DS18782,BMG_DS072171,"MONDO:0009135 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia | UMLS ID:C5574667 | OMIM ID:607465 | congenital dyserythropoietic anemia type Ia | DOID:0111398 | anemia, congenital dyserythropoietic, type 1a | OMIM ID:224120" +BMGC_DS18783,BMG_DS072172,"Hereditary sensory and autonomic neuropathy type II | hereditary sensory and autonomic neuropathy type 2 | MONDO:0019941 | Painless whitlow disease | SNOMEDCT ID:398148000 | Hereditary sensory and autonomic neuropathy type II (disorder) | UMLS ID:C5574675 | Hereditary sensory and autonomic neuropathy, type II | Dominant hereditary sensory neuropathy, type II" +BMGC_DS18784,BMG_DS072173,OMIM ID:228600 | MONDO:0009229 | SNOMEDCT ID:1197494003 | Hyaline fibromatosis syndrome | hyaline fibromatosis syndrome | Hyaline fibromatosis syndrome (disorder) | UMLS ID:C5574677 +BMGC_DS18785,BMG_DS072174,UMLS ID:C5574678 | MONDO:0016331 | OMIM ID:236490 | infantile systemic hyalinosis | SNOMEDCT ID:238867003 | Infantile systemic hyalinosis | Infantile systemic hyalinosis (disorder) +BMGC_DS18786,BMG_DS072176,UMLS ID:C5574705 | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 | MONDO:0027676 | DOID:0080207 | OMIM ID:604613 | OMIM ID:143400 | CAKUT2 | congenital anomalies of kidney and urinary tract 2 +BMGC_DS18787,BMG_DS072177,SNOMEDCT ID:76376003 | Endometriosis | Endometriosis (& [adenomyosis]) | Endometriosis of uterus (disorder) | OMIM ID:600458 | Adenomyosis | MeSH ID:D062788 | Endometriosis of uterus | Endometriosis (& [adenomyosis]) (disorder) | SNOMEDCT ID:198246007 | adenomyosis | SNOMEDCT ID:155988000 | UMLS ID:C5574708 | MONDO:0010888 | Adenomyosis - uterine endomet. +BMGC_DS18788,BMG_DS072179,"MeSH ID:D004681 | experimental autoimmune encephalomyelitis | Encephalomyelitis, Allergic | Encephalomyelitis, Autoimmune, Experimental | MONDO:0005134 | UMLS ID:C5574734" +BMGC_DS18789,BMG_DS072183,LAL (Lysosomal acid lipase) deficiency | DOID:0080217 | UMLS ID:C5574740 | Lysosomal acid lipase deficiency | LALD - Lysosomal acid lipase deficiency | MONDO:0800449 | SNOMEDCT ID:715923003 | lysosomal acid lipase deficiency | Lysosomal acid lipase deficiency (disorder) +BMGC_DS18790,BMG_DS072185,"ICD10 ID:L93.0 | DLE - Discoid lupus erythematosus | MONDO:0019558 | OMIM ID:MTHU076645 | ICD11 ID:EB51.Z | UMLS ID:C5574816 | Chronic cutaneous lupus erythematosus, unspecified | discoid lupus erythematosus | Discoid lupus erythematosus (disorder) | LE - Discoid lupus erythematosus | SNOMEDCT ID:13902000 | SNOMEDCT ID:200938002 | Discoid lupus erythematosus | SNOMEDCT ID:156365002" +BMGC_DS18791,BMG_DS072186,"Systemic sclerosis with limited cutaneous involvement | Systemic sclerosis, limited | SNOMEDCT ID:128459005 | Acrosclerosis | UMLS ID:C5574860 | Systemic sclerosis, limited (disorder) | SNOMEDCT ID:298285004 | Systemic sclerosis with limited cutaneous involvement (disorder) | Limited cutaneous systemic sclerosis" +BMGC_DS18792,BMG_DS072188,SNOMEDCT ID:234143003 | Parkes Weber syndrome | UMLS ID:C5574870 | Parkes Weber syndrome (disorder) +BMGC_DS18793,BMG_DS072190,"OMIM ID:261680 | OMIM ID:614168 | phosphoenolpyruvate carboxykinase deficiency, cytosolic | PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC | MONDO:0009866 | UMLS ID:C5574905" +BMGC_DS18794,BMG_DS072191,preeclampsia/eclampsia 1 | UMLS ID:C5574918 | MONDO:0100467 | OMIM ID:189800 +BMGC_DS18795,BMG_DS072192,UMLS ID:C5574922 | catecholaminergic polymorphic ventricular tachycardia | MONDO:0017990 +BMGC_DS18796,BMG_DS072194,Timothy syndrome classic type | Long QT syndrome with syndactyly | Timothy syndrome type 1 | UMLS ID:C5574939 | Timothy syndrome type 1 (disorder) | SNOMEDCT ID:699256006 | MONDO:0035678 +BMGC_DS18797,BMG_DS072195,"combined D-2- and L-2-hydroxyglutaric aciduria | Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia | UMLS ID:C5574940 | Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria | DOID:0111619 | D,L-2-hydroxyglutaric acidemia | D,L-2-hydroxyglutaric aciduria | SNOMEDCT ID:713401006 | OMIM ID:615182 | MONDO:0014072 | Combined D-2-hydroxyglutaric acidaemia and L-2-hydroxyglutaric acidaemia | Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) | D,L-2-hydroxyglutaric acidaemia" +BMGC_DS18798,BMG_DS072196,"OMIM ID:609446 | OMIM ID:600150 | MONDO:0012276 | generalized epilepsy-paroxysmal dyskinesia syndrome | PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY | UMLS ID:C5574945 | paroxysmal nonkinesigenic dyskinesia 3 | DOID:0070442" +BMGC_DS18799,BMG_DS072197,UMLS ID:C5574948 | congenital disorder of glycosylation type II | Congenital disorder of glycosylation type II | MONDO:0005501 | MeSH ID:C535747 | DOID:0050571 +BMGC_DS18800,BMG_DS072198,OMIM ID:256500 | Netherton Syndrome | MONDO:0009735 | MeSH ID:D056770 | UMLS ID:C5574950 | Netherton syndrome +BMGC_DS18801,BMG_DS072200,"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7 | DOID:0080085 | MONDO:0011595 | UMLS ID:C5574953 | OMIM ID:605779 | nonsyndromic congenital nail disorder 7" +BMGC_DS18802,BMG_DS072202,hypogonadotropic hypogonadism 24 without anosmia | UMLS ID:C5574957 | HYPOGONADOTROPIC HYPOGONADISM 24 WITH OR WITHOUT ANOSMIA | OMIM ID:229070 | MONDO:0009239 +BMGC_DS18803,BMG_DS072203,SNOMEDCT ID:1010609002 | MONDO:0008620 | UMLS ID:C5574958 | Mesomelic dysplasia of upper limb (disorder) | Mesomelic dysplasia of upper limb | OMIM ID:191440 | upper limb mesomelic dysplasia +BMGC_DS18804,BMG_DS072204,Patterson-Stevenson-Fontaine syndrome | MONDO:0008465 | MeSH ID:C536311 | Split foot deformity with mandibulofacial dysostosis syndrome | OMIM ID:183700 | Patterson Stevenson Fontaine syndrome | Patterson Stevenson Fontaine syndrome (disorder) | SNOMEDCT ID:724069009 | UMLS ID:C5574964 +BMGC_DS18805,BMG_DS072205,OMIM ID:136760 | MONDO:0007636 | frontorhiny | UMLS ID:C5574965 +BMGC_DS18806,BMG_DS072206,MONDO:0020542 | malignant Sertoli-Leydig cell tumor of ovary | UMLS ID:C5574973 +BMGC_DS18807,BMG_DS072208,MONDO:0008513 | OMIM ID:186000 | UMLS ID:C5574994 | synpolydactyly type 1 +BMGC_DS18808,BMG_DS072209,OMIM ID:176947 | combined immunodeficiency due to ZAP70 deficiency | UMLS ID:C5575025 | MONDO:0010023 | IMMUNODEFICIENCY 48 | OMIM ID:269840 +BMGC_DS18809,BMG_DS072211,MAGEL2-related Prader-Willi-like syndrome | UMLS ID:C5575066 | MAGE family member L2-related Prader-Willi-like syndrome (disorder) | Schaaf Yang syndrome | SNOMEDCT ID:1229946007 | OMIM ID:208080 | Schaaf-Yang syndrome | OMIM ID:615547 | MAGE family member L2-related Prader-Willi-like syndrome | MONDO:0014243 +BMGC_DS18810,BMG_DS072212,SNOMEDCT ID:1230018005 | Corticobasal syndrome (disorder) | MONDO:0018696 | Corticobasal syndrome | corticobasal syndrome | UMLS ID:C5575119 +BMGC_DS18811,BMG_DS072213,"DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES | OMIM ID:182790 | UMLS ID:C5575225" +BMGC_DS18812,BMG_DS072215,UMLS ID:C5575231 | MONDO:0017615 | benign familial infantile epilepsy +BMGC_DS18813,BMG_DS072216,"developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | OMIM ID:619964 | MONDO:0859263 | UMLS ID:C5575272" +BMGC_DS18814,BMG_DS072219,"craniotubular dysplasia Ikegawa type | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE | UMLS ID:C5575335 | OMIM ID:619727 | craniotubular dysplasia, Ikegawa type | DOID:0112340 | OMIM ID:619722 | MONDO:0859226" +BMGC_DS18815,BMG_DS072222,autosomal recessive cerebellar ataxia | UMLS ID:C5575375 | MONDO:0015244 +BMGC_DS18816,BMG_DS072223,"AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 | autoinflammatory syndrome, familial, X-linked, Behcet-like 2 | UMLS ID:C5575495 | OMIM ID:300775 | MONDO:0024770 | OMIM ID:301074" +BMGC_DS18817,BMG_DS072225,UMLS ID:C5575503 | severe primary trimethylaminuria | MONDO:0018767 | OMIM ID:602079 | Severe primary trimethylaminuria (disorder) | SNOMEDCT ID:1237339005 | Severe primary trimethylaminuria +BMGC_DS18818,BMG_DS072226,MONDO:0017830 | UMLS ID:C5575558 | severe Canavan disease +BMGC_DS18819,BMG_DS072230,"CNTNAP2-related developmental and epileptic encephalopathy | UMLS ID:C5575702 | Contactin associated protein 2-related developmental and epileptic encephalopathy (disorder) | Cortical dysplasia, focal epilepsy syndrome | Contactin associated protein 2-related developmental and epileptic encephalopathy | SNOMEDCT ID:1230376005" +BMGC_DS18820,BMG_DS072231,"Atypical Timothy syndrome | SNOMEDCT ID:1230097004 | UMLS ID:C5575746 | Timothy syndrome, atypical type | Atypical Timothy syndrome (disorder) | Timothy syndrome atypical type | MONDO:0021172 | Atypical long QT syndrome type 8" +BMGC_DS18821,BMG_DS072248,"diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | UMLS ID:C5669918 | MONDO:0858939" +BMGC_DS18822,BMG_DS072249,infant-type hemispheric glioma | MONDO:0858940 | UMLS ID:C5669919 +BMGC_DS18823,BMG_DS072250,high-grade astrocytoma with piloid features | UMLS ID:C5670122 | MONDO:0858958 +BMGC_DS18824,BMG_DS072257,DOID:0070480 | UMLS ID:C5670707 | schwannomatosis 1 +BMGC_DS18825,BMG_DS072258,schwannomatosis 2 | DOID:0070481 | UMLS ID:C5670708 +BMGC_DS18826,BMG_DS072263,Autoimmune Diseases of the Nervous System | autoimmune encephalitis | Autoimmune Encephalitis | UMLS ID:C5671289 | MeSH ID:D020274 | MONDO:0020640 +BMGC_DS18827,BMG_DS072278,"UMLS ID:C5675009 | Autosomal dominant limb girdle muscular dystrophy | MONDO:0015151 | muscular dystrophy, limb-girdle, autosomal dominant | ICD10 ID:G71.031" +BMGC_DS18828,BMG_DS072459,"OMIM ID:105600 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa | congenital dyserythropoietic anemia type 3 | MONDO:0007109 | UMLS ID:C5676874" +BMGC_DS18829,BMG_DS072460,"OMIM ID:147557 | UMLS ID:C5676875 | OMIM ID:226730 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | junctional epidermolysis bullosa with pyloric atresia | MONDO:0009183" +BMGC_DS18830,BMG_DS072461,Carey-Fineman-Ziter syndrome 1 | DOID:0080194 | CAREY-FINEMAN-ZITER SYNDROME 1 | MONDO:0800437 | UMLS ID:C5676876 | Carey-Fineman-Ziter syndrome | OMIM ID:254940 +BMGC_DS18831,BMG_DS072462,"OMIM ID:610232 | MONDO:0009935 | pulmonary hypertension, primary, autosomal recessive | OMIM ID:265400 | UMLS ID:C5676877 | PULMONARY HYPERTENSION, PRIMARY, 5" +BMGC_DS18832,BMG_DS072463,OMIM ID:275210 | MONDO:0800042 | DOID:0070369 | UMLS ID:C5676878 | RESTRICTIVE DERMOPATHY 1 | restrictive dermopathy 1 | OMIM ID:606480 +BMGC_DS18833,BMG_DS072464,"OMIM ID:300841 | MONDO:0859082 | UMLS ID:C5676879 | thrombophilia, X-linked, due to factor 8 defect | THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT | OMIM ID:301071" +BMGC_DS18834,BMG_DS072465,"MONDO:0024771 | OMIM ID:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED | OMIM ID:300226 | UMLS ID:C5676880 | myopathy, distal, 7, adult-onset, X-linked" +BMGC_DS18835,BMG_DS072466,"UMLS ID:C5676881 | OMIM ID:301076 | MONDO:0024772 | intellectual developmental disorder, X-linked, syndromic, Pilorge type" +BMGC_DS18836,BMG_DS072467,"DOID:0070595 | X-linked spermatogenic failure 4 | OMIM ID:300369 | spermatogenic failure, X-linked, 4 | OMIM ID:301077 | MONDO:0024773 | SPERMATOGENIC FAILURE, X-LINKED, 4 | UMLS ID:C5676882" +BMGC_DS18837,BMG_DS072468,"UMLS ID:C5676883 | OMIM ID:300366 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED | MONDO:0024777 | immunodeficiency 98 with autoinflammation, X-linked | OMIM ID:301078" +BMGC_DS18838,BMG_DS072469,SYSTEMIC LUPUS ERYTHEMATOSUS 17 | OMIM ID:301080 | UMLS ID:C5676884 | systemic lupus erythematosus 17 | MONDO:0859083 | OMIM ID:300365 +BMGC_DS18839,BMG_DS072470,"AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED | OMIM ID:300248 | MONDO:0800129 | autoinflammatory disease, X-linked | UMLS ID:C5676885 | OMIM ID:301081" +BMGC_DS18840,BMG_DS072471,OMIM ID:300441 | immunodeficiency 102 | MONDO:0024781 | OMIM ID:301082 | IMMUNODEFICIENCY 102 | UMLS ID:C5676886 +BMGC_DS18841,BMG_DS072472,MONDO:0800043 | OMIM ID:151443 | Stüve-Wiedemann syndrome 1 | OMIM ID:601559 | UMLS ID:C5676888 | STUVE-WIEDEMANN SYNDROME 1 +BMGC_DS18842,BMG_DS072473,"MONDO:0800328 | OMIM ID:604232 | RETINITIS PIGMENTOSA 94, VARIABLE AGE AT ONSET | retinitis pigmentosa 94, variable age at onset | UMLS ID:C5676889 | OMIM ID:609868" +BMGC_DS18843,BMG_DS072474,IMMUNODEFICIENCY 104 | MONDO:0012163 | OMIM ID:146661 | immunodeficiency 104 | OMIM ID:608971 | UMLS ID:C5676890 +BMGC_DS18844,BMG_DS072475,"MONDO:0800046 | OMIM ID:609698 | UMLS ID:C5676891 | thyroid hormone metabolism, abnormal 1" +BMGC_DS18845,BMG_DS072476,"OMIM ID:612901 | MACROTHROMBOCYTOPENIA, ISOLATED, 1, AUTOSOMAL DOMINANT | OMIM ID:613112 | UMLS ID:C5676892 | MONDO:0800047 | macrothrombocytopenia, isolated, 1, autosomal dominant" +BMGC_DS18846,BMG_DS072477,"3-methylglutaconic aciduria type 7b | 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | OMIM ID:616271 | MONDO:0014561 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIB | DOID:0081134;DOID:0110003 | UMLS ID:C5676893 | 3-methylglutaconic aciduria, type VIIB" +BMGC_DS18847,BMG_DS072478,"UMLS ID:C5676894 | OMIM ID:616579 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES | DOID:0070070 | MONDO:0014699 | intellectual disability, autosomal dominant 40 | OMIM ID:616327 | autosomal dominant intellectual developmental disorder 40" +BMGC_DS18848,BMG_DS072479,"MONDO:0859567 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | OMIM ID:619960 | UMLS ID:C5676895 | DOID:0081125 | OMIM ID:616994 | CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2" +BMGC_DS18849,BMG_DS072480,"OMIM ID:617863 | MONDO:0029465 | intellectual developmental disorder, autosomal dominant 69 | UMLS ID:C5676896" +BMGC_DS18850,BMG_DS072481,UMLS ID:C5676897 | KNOBLOCH SYNDROME 2 | MONDO:0100119 | Knobloch syndrome 2 | OMIM ID:618458 | OMIM ID:605022 +BMGC_DS18851,BMG_DS072482,"OMIM ID:619702 | MONDO:0859222 | heterotaxy, visceral, 12, autosomal | UMLS ID:C5676898" +BMGC_DS18852,BMG_DS072483,immunodeficiency 93 and hypertrophic cardiomyopathy | OMIM ID:610594 | MONDO:0030528 | OMIM ID:619705 | UMLS ID:C5676899 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY +BMGC_DS18853,BMG_DS072484,"agammaglobulinemia 10 | MONDO:0030529 | DOID:0081142 | OMIM ID:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT | OMIM ID:165170 | UMLS ID:C5676900 | agammaglobulinemia 10, autosomal dominant" +BMGC_DS18854,BMG_DS072485,GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 | OMIM ID:619708 | MONDO:0030669 | gastrointestinal defects and immunodeficiency syndrome 2 | OMIM ID:600286 | UMLS ID:C5676901 +BMGC_DS18855,BMG_DS072486,"MONDO:0030533 | UMLS ID:C5676902 | intellectual developmental disorder, autosomal recessive 73 | OMIM ID:619717" +BMGC_DS18856,BMG_DS072487,HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 26 with or without anosmia | MONDO:0030534 | OMIM ID:619718 | UMLS ID:C5676903 +BMGC_DS18857,BMG_DS072488,OMIM ID:601439 | DOID:0070600 | OMIM ID:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME | MONDO:0859224 | intellectual disability and myopathy syndrome | UMLS ID:C5676904 +BMGC_DS18858,BMG_DS072489,Bryant-Li-Bhoj neurodevelopmental syndrome 1 | OMIM ID:601128 | DOID:0051011 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 | OMIM ID:619720 | UMLS ID:C5676905 | MONDO:0030606 +BMGC_DS18859,BMG_DS072490,OMIM ID:601058 | MONDO:0030607 | UMLS ID:C5676906 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 | DOID:0051012 | Bryant-Li-Bhoj neurodevelopmental syndrome 2 | OMIM ID:619721 +BMGC_DS18860,BMG_DS072491,"OMIM ID:619724 | MONDO:0030538 | OMIM ID:605879 | myoclonic dystonia 34 | DYSTONIA 34, MYOCLONIC | dystonia 34, myoclonic | UMLS ID:C5676907 | DOID:0060957" +BMGC_DS18861,BMG_DS072492,OMIM ID:605879 | UMLS ID:C5676908 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES | neurodevelopmental disorder with or without variable movement or behavioral abnormalities | MONDO:0859225 | OMIM ID:619725 +BMGC_DS18862,BMG_DS072493,inclusion body myopathy and brain white matter abnormalities | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES | DOID:0081121 | OMIM ID:602572 | UMLS ID:C5676909 | MONDO:0850514 | OMIM ID:619733 +BMGC_DS18863,BMG_DS072494,"hereditary spastic paraplegia 86 | MONDO:0030673 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE | spastic paraplegia 86, autosomal recessive | UMLS ID:C5676910 | OMIM ID:142620 | OMIM ID:619735 | DOID:0112342" +BMGC_DS18864,BMG_DS072495,UMLS ID:C5676911 | TEEBI HYPERTELORISM SYNDROME 2 | OMIM ID:619736 | OMIM ID:600023 | Teebi hypertelorism syndrome 2 | DOID:0081074 | MONDO:0030674 +BMGC_DS18865,BMG_DS072496,OMIM ID:609947 | DOID:0070427 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 | OMIM ID:619737 | MONDO:0030543 | UMLS ID:C5676912 | combined oxidative phosphorylation deficiency 54 +BMGC_DS18866,BMG_DS072497,"MONDO:0030676 | OMIM ID:604733 | OMIM ID:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET | UMLS ID:C5676913 | parkinsonism-dystonia 3, childhood-onset" +BMGC_DS18867,BMG_DS072498,"OMIM ID:614366 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I | MONDO:0030677 | Charcot-Marie-Tooth disease, demyelinating, IIA 1I | UMLS ID:C5676914 | OMIM ID:619742" +BMGC_DS18868,BMG_DS072499,combined oxidative phosphorylation deficiency 55 | OMIM ID:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 | UMLS ID:C5676915 | OMIM ID:601778 | MONDO:0859228 | DOID:0070428 +BMGC_DS18869,BMG_DS072500,UMLS ID:C5676916 | MONDO:0030679 | OMIM ID:609292 | OMIM ID:619745 | NOONAN SYNDROME 14 | Noonan syndrome 14 +BMGC_DS18870,BMG_DS072501,"cardiomyopathy, dilated, 2F | CARDIOMYOPATHY, DILATED, 2F | DOID:0081162 | OMIM ID:603885 | UMLS ID:C5676917 | OMIM ID:619747 | dilated cardiomyopathy 2F | MONDO:0030680" +BMGC_DS18871,BMG_DS072502,MONDO:0030681 | UMLS ID:C5676918 | OMIM ID:600694 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES | immunodeficiency 94 with autoinflammation and dysmorphic facies | OMIM ID:619750 +BMGC_DS18872,BMG_DS072503,OMIM ID:619751 | MONDO:0030756 | OMIM ID:600694 | UMLS ID:C5676919 | Stuve-Wiedemann syndrome 2 | STUVE-WIEDEMANN SYNDROME 2 +BMGC_DS18873,BMG_DS072504,"UMLS ID:C5676920 | HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | MONDO:0800131 | OMIM ID:600694 | OMIM ID:619752 | hyper-IgE recurrent infection syndrome 4A, autosomal dominant" +BMGC_DS18874,BMG_DS072505,OMIM ID:162361 | hypogonadotropic hypogonadism 27 without anosmia | HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA | OMIM ID:619755 | UMLS ID:C5676921 | MONDO:0030684 +BMGC_DS18875,BMG_DS072506,Tessadori-van Haaften neurodevelopmental syndrome 1 | UMLS ID:C5676922 | OMIM ID:602827 | TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 | OMIM ID:619758 | MONDO:0030729 +BMGC_DS18876,BMG_DS072507,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 | UMLS ID:C5676923 | OMIM ID:619759 | MONDO:0030730 | OMIM ID:602826 | Tessadori-van Haaften neurodevelopmental syndrome 2 +BMGC_DS18877,BMG_DS072508,"OMIM ID:619761 | CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM | cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | OMIM ID:616741 | MONDO:0859229 | UMLS ID:C5676924" +BMGC_DS18878,BMG_DS072509,OMIM ID:603089 | MONDO:0859230 | OMIM ID:619762 | Kury-Isidor syndrome | KURY-ISIDOR SYNDROME | UMLS ID:C5676925 +BMGC_DS18879,BMG_DS072510,"OMIM ID:604580 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H | MONDO:0030689 | OMIM ID:619764 | UMLS ID:C5676926 | Charcot-Marie-Tooth disease, demyelinating, IIA 1H" +BMGC_DS18880,BMG_DS072511,"pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | UMLS ID:C5676927 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6 | MONDO:0030690 | OMIM ID:619767 | OMIM ID:179835" +BMGC_DS18881,BMG_DS072512,"macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | OMIM ID:605878 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN | MONDO:0859231 | OMIM ID:619769 | UMLS ID:C5676928" +BMGC_DS18882,BMG_DS072513,OMIM ID:606951 | IMMUNODEFICIENCY 95 | immunodeficiency 95 | UMLS ID:C5676929 | OMIM ID:619773 | MONDO:0030692 +BMGC_DS18883,BMG_DS072514,UMLS ID:C5676930 | MONDO:0030693 | OMIM ID:126391 | OMIM ID:619774 | immunodeficiency 96 | IMMUNODEFICIENCY 96 +BMGC_DS18884,BMG_DS072515,MONDO:0030770 | OMIM ID:154580 | DOID:0060990 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2 | UMLS ID:C5676931 | OMIM ID:619775 | congenital disorder of deglycosylation 2 +BMGC_DS18885,BMG_DS072516,OMIM ID:609100 | DOID:0070386 | OMIM ID:619777 | UMLS ID:C5676932 | developmental and epileptic encephalopathy 100 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 | MONDO:0030695 +BMGC_DS18886,BMG_DS072517,MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) | mitochondrial DNA depletion syndrome 20 | OMIM ID:619780 | mitochondrial DNA depletion syndrome 20 (mngie type) | MONDO:0030696 | UMLS ID:C5676934 | DOID:0070451 | OMIM ID:600940 +BMGC_DS18887,BMG_DS072518,"OMIM ID:607163 | MYOPIA 28, AUTOSOMAL RECESSIVE | MONDO:0030697 | UMLS ID:C5676935 | OMIM ID:619781 | myopia 28, autosomal recessive" +BMGC_DS18888,BMG_DS072519,"epidermolysis bullosa, junctional 2A, intermediate | OMIM ID:600805 | MONDO:0030746 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE | UMLS ID:C5676936 | OMIM ID:619783" +BMGC_DS18889,BMG_DS072520,"OMIM ID:600805 | MONDO:0030747 | epidermolysis bullosa, junctional 2B, severe | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE | OMIM ID:619784 | UMLS ID:C5676937" +BMGC_DS18890,BMG_DS072521,"UMLS ID:C5676938 | epidermolysis bullosa, junctional 3A, intermediate | MONDO:0030748 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE | OMIM ID:150292 | OMIM ID:619785" +BMGC_DS18891,BMG_DS072522,"epidermolysis bullosa, junctional 3B, severe | OMIM ID:619786 | UMLS ID:C5676939 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE | OMIM ID:150292 | MONDO:0030749" +BMGC_DS18892,BMG_DS072523,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE | MONDO:0030711 | UMLS ID:C5676940 | DOID:0051001 | Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive | OMIM ID:619789 | congenital dyserythropoietic anemia type IIIb" +BMGC_DS18893,BMG_DS072524,OMIM ID:614092 | OMIM ID:619790 | UMLS ID:C5676941 | DOID:0081300 | OCULOPHARYNGODISTAL MYOPATHY 4 | MONDO:0030712 | oculopharyngodistal myopathy 4 +BMGC_DS18894,BMG_DS072525,DOID:0070370 | OMIM ID:150330 | restrictive dermopathy 2 | OMIM ID:619793 | UMLS ID:C5676942 | RESTRICTIVE DERMOPATHY 2 | MONDO:0030781 +BMGC_DS18895,BMG_DS072526,"MONDO:0030714 | OMIM ID:618788 | OMIM ID:619795 | osteogenesis imperfecta, IIA 22 | UMLS ID:C5676943 | OSTEOGENESIS IMPERFECTA, TYPE XXII" +BMGC_DS18896,BMG_DS072527,MONDO:0859232 | UMLS ID:C5676944 | OMIM ID:605314 | OMIM ID:619797 | neurodevelopmental disorder with central hypotonia and dysmorphic facies | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES +BMGC_DS18897,BMG_DS072528,DOID:0070565 | spermatogenic failure 66 | UMLS ID:C5676945 | OMIM ID:608498 | SPERMATOGENIC FAILURE 66 | MONDO:0030716 | OMIM ID:619799 +BMGC_DS18898,BMG_DS072529,immunodeficiency 97 with autoinflammation | MONDO:0030717 | OMIM ID:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION | OMIM ID:601232 | UMLS ID:C5676946 +BMGC_DS18899,BMG_DS072530,SPERMATOGENIC FAILURE 67 | OMIM ID:619803 | UMLS ID:C5676947 | spermatogenic failure 67 | OMIM ID:613481 | DOID:0070566 | MONDO:0030718 +BMGC_DS18900,BMG_DS072531,"MONDO:0030719 | autosomal dominant nonsyndromic deafness 82 | DEAFNESS, AUTOSOMAL DOMINANT 82 | UMLS ID:C5676948 | OMIM ID:619804 | hearing loss, autosomal dominant 82 | OMIM ID:108733 | DOID:0070603" +BMGC_DS18901,BMG_DS072532,UMLS ID:C5676949 | OMIM ID:619805 | MONDO:0030721 | spermatogenic failure 68 | DOID:0070567 | OMIM ID:619776 | SPERMATOGENIC FAILURE 68 +BMGC_DS18902,BMG_DS072533,OMIM ID:619806 | UMLS ID:C5676950 | MONDO:0030805 | OMIM ID:611170 | SPINOCEREBELLAR ATAXIA 49 | spinocerebellar ataxia 49 +BMGC_DS18903,BMG_DS072534,"DOID:0070609 | OMIM ID:619808 | autosomal dominant nonsyndromic deafness 83 | UMLS ID:C5676951 | hearing loss, autosomal dominant 83 | MONDO:0030723 | DEAFNESS, AUTOSOMAL DOMINANT 83 | OMIM ID:157129" +BMGC_DS18904,BMG_DS072535,"OMIM ID:619810 | DOID:0070604 | UMLS ID:C5676952 | DEAFNESS, AUTOSOMAL DOMINANT 84 | autosomal dominant nonsyndromic deafness 84 | MONDO:0030724 | hearing loss, autosomal dominant 84 | OMIM ID:605868" +BMGC_DS18905,BMG_DS072536,"UMLS ID:C5676954 | neutropenia, severe congenital, 9, autosomal dominant | OMIM ID:619813 | MONDO:0030726 | NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT | OMIM ID:616254" +BMGC_DS18906,BMG_DS072537,OMIM ID:138249 | MONDO:0030727 | UMLS ID:C5676955 | OMIM ID:619814 | developmental and epileptic encephalopathy 101 | DOID:0070387 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 +BMGC_DS18907,BMG_DS072538,"OMIM ID:147557 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE | epidermolysis bullosa, junctional 5A, intermediate | OMIM ID:619816 | UMLS ID:C5676956 | MONDO:0030768" +BMGC_DS18908,BMG_DS072539,"MONDO:0859233 | OMIM ID:619817 | UMLS ID:C5676957 | OMIM ID:147556 | epidermolysis bullosa, junctional 6, with pyloric atresia | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA" +BMGC_DS18909,BMG_DS072540,"MONDO:0859234 | agammaglobulinemia 8b, autosomal recessive | DOID:0081143 | OMIM ID:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE | OMIM ID:147141 | agammaglobulinemia 8B | UMLS ID:C5676958" +BMGC_DS18910,BMG_DS072541,"UMLS ID:C5676959 | OMIM ID:614476 | AORTIC ANEURYSM, FAMILIAL THORACIC 12 | MONDO:0030731 | OMIM ID:619825 | aortic aneurysm, familial thoracic 12" +BMGC_DS18911,BMG_DS072542,DOID:0070568 | UMLS ID:C5676960 | OMIM ID:619826 | spermatogenic failure 69 | MONDO:0030732 | OMIM ID:609966 | SPERMATOGENIC FAILURE 69 +BMGC_DS18912,BMG_DS072543,"MONDO:0030785 | autosomal recessive intellectual developmental disorder 75 | OMIM ID:605247 | UMLS ID:C5676961 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY | DOID:0081234 | OMIM ID:619827 | intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly" +BMGC_DS18913,BMG_DS072544,MONDO:0030733 | UMLS ID:C5676962 | DOID:0070569 | OMIM ID:619828 | OMIM ID:179061 | SPERMATOGENIC FAILURE 70 | spermatogenic failure 70 +BMGC_DS18914,BMG_DS072545,OMIM ID:619831 | OMIM ID:614535 | UMLS ID:C5676963 | SPERMATOGENIC FAILURE 71 | DOID:0070570 | MONDO:0030787 | spermatogenic failure 71 +BMGC_DS18915,BMG_DS072546,"DOID:0112373 | autosomal dominant auditory neuropathy 3 | UMLS ID:C5676964 | OMIM ID:619832 | MONDO:0859235 | AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3 | OMIM ID:612048 | auditory neuropathy, autosomal dominant 3" +BMGC_DS18916,BMG_DS072547,neurodevelopmental disorder with neuromuscular and skeletal abnormalities | OMIM ID:601581 | OMIM ID:619833 | UMLS ID:C5676965 | MONDO:0859236 | NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES +BMGC_DS18917,BMG_DS072548,MONDO:0030736 | OMIM ID:619834 | OVARIAN DYSGENESIS 10 | OMIM ID:614535 | DOID:0061014 | UMLS ID:C5676966 | ovarian dysgenesis 10 +BMGC_DS18918,BMG_DS072549,"UMLS ID:C5676967 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | DOID:0081133 | MONDO:0859237 | 3-methylglutaconic aciduria type 7a | OMIM ID:619835 | 3-methylglutaconic aciduria, type VIIA" +BMGC_DS18919,BMG_DS072550,"OMIM ID:619840 | OMIM ID:605742 | autosomal dominant isolated macrothrombocytopenia 2 | macrothrombocytopenia, isolated, 2, autosomal dominant | DOID:0060995 | MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT | UMLS ID:C5676968 | MONDO:0030827" +BMGC_DS18920,BMG_DS072551,OMIM ID:619844 | MONDO:0859240 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY | intellectual developmental disorder with or without peripheral neuropathy | UMLS ID:C5676969 +BMGC_DS18921,BMG_DS072552,UMLS ID:C5676970 | OMIM ID:619845 | RETINITIS PIGMENTOSA 93 | OMIM ID:612013 | retinitis pigmentosa 93 | MONDO:0030797 +BMGC_DS18922,BMG_DS072553,UMLS ID:C5676971 | OMIM ID:619846 | MONDO:0030798 | immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias | OMIM ID:611537 | IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS +BMGC_DS18923,BMG_DS072554,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY | OMIM ID:188345 | OMIM ID:619847 | MONDO:0859241 | neurodegeneration, childhood-onset, with progressive microcephaly | UMLS ID:C5676972" +BMGC_DS18924,BMG_DS072555,"OMIM ID:619849 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 | OMIM ID:619635 | UMLS ID:C5676973 | cholestasis, progressive familial intrahepatic, 9 | MONDO:0030800" +BMGC_DS18925,BMG_DS072556,"DOID:0070406 | MONDO:0859242 | LEUKODYSTROPHY, HYPOMYELINATING, 24 | leukodystrophy, hypomyelinating, 24 | hypomyelinating leukodystrophy 24 | UMLS ID:C5676974 | OMIM ID:619851" +BMGC_DS18926,BMG_DS072557,"neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES | MONDO:0859243 | OMIM ID:139310 | UMLS ID:C5676975 | OMIM ID:619854" +BMGC_DS18927,BMG_DS072558,"thyroid hormone metabolism, abnormal, 2 | UMLS ID:C5676976 | MONDO:0030839 | OMIM ID:619855" +BMGC_DS18928,BMG_DS072559,UMLS ID:C5676977 | OMIM ID:619858 | MONDO:0800132 | OMIM ID:126350 | AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME | autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency +BMGC_DS18929,BMG_DS072560,"OMIM ID:619862 | DOID:0070413 | UMLS ID:C5676978 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 | spinocerebellar ataxia, autosomal recessive 32 | MONDO:0859245 | OMIM ID:604769 | autosomal recessive spinocerebellar ataxia 32" +BMGC_DS18930,BMG_DS072561,"MONDO:0859246 | OMIM ID:619864 | OMIM ID:603027 | UMLS ID:C5676979 | LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING | leukodystrophy, childhood-onset, remitting" +BMGC_DS18931,BMG_DS072562,SPERMATOGENIC FAILURE 72 | UMLS ID:C5676980 | spermatogenic failure 72 | OMIM ID:608151 | DOID:0070571 | MONDO:0030809 | OMIM ID:619867 +BMGC_DS18932,BMG_DS072563,"UMLS ID:C5676981 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 | OMIM ID:619868 | MONDO:0030810 | OMIM ID:606540 | cholestasis, progressive familial intrahepatic, 10" +BMGC_DS18933,BMG_DS072564,"CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET | MONDO:0859248 | UMLS ID:C5676982 | corneal dystrophy, punctiform and polychromatic pre-descemet | OMIM ID:604769 | OMIM ID:619871" +BMGC_DS18934,BMG_DS072565,OMIM ID:619872 | immunodeficiency 101 (varicella zoster virus-specific) | MONDO:0030813 | UMLS ID:C5676983 | IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) | OMIM ID:617455 +BMGC_DS18935,BMG_DS072566,OMIM ID:610771 | OMIM ID:619873 | MONDO:0859249 | UMLS ID:C5676984 | parenti-mignot neurodevelopmental syndrome | PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME +BMGC_DS18936,BMG_DS072567,"MONDO:0030815 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11 | OMIM ID:619874 | UMLS ID:C5676985 | OMIM ID:607961 | cholestasis, progressive familial intrahepatic, 11" +BMGC_DS18937,BMG_DS072568,"UMLS ID:C5676986 | OMIM ID:606029 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES | MONDO:0859250 | OMIM ID:619876 | neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures" +BMGC_DS18938,BMG_DS072569,OMIM ID:614387 | UMLS ID:C5676987 | OMIM ID:619877 | Dentici-Novelli neurodevelopmental syndrome | DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME | MONDO:0859251 +BMGC_DS18939,BMG_DS072570,spermatogenic failure 73 | MONDO:0030818 | SPERMATOGENIC FAILURE 73 | UMLS ID:C5676988 | DOID:0070572 | OMIM ID:605794 | OMIM ID:619878 +BMGC_DS18940,BMG_DS072571,MONDO:0030819 | UMLS ID:C5676989 | OMIM ID:619879 | OMIM ID:617778 | meckel syndrome 14 | MECKEL SYNDROME 14 +BMGC_DS18941,BMG_DS072572,MONDO:0859252 | UMLS ID:C5676990 | neurodevelopmental disorder with poor growth and skeletal anomalies | OMIM ID:619880 | NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES | OMIM ID:606305 +BMGC_DS18942,BMG_DS072573,DOID:0070388 | OMIM ID:619881 | UMLS ID:C5676991 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 | developmental and epileptic encephalopathy 102 | MONDO:0030881 | OMIM ID:604437 +BMGC_DS18943,BMG_DS072574,"UMLS ID:C5676992 | OMIM ID:606990 | OMIM ID:619884 | osteoporosis, childhood- or juvenile-onset, with developmental delay | OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY | MONDO:0859253" +BMGC_DS18944,BMG_DS072575,MONDO:0030822 | OMIM ID:601496 | RENAL HYPODYSPLASIA/APLASIA 4 | UMLS ID:C5676993 | renal hypodysplasia/aplasia 4 | OMIM ID:619887 +BMGC_DS18945,BMG_DS072576,OMIM ID:619895 | OMIM ID:612835 | holoprosencephaly 14 | UMLS ID:C5676994 | MONDO:0030886 | HOLOPROSENCEPHALY 14 +BMGC_DS18946,BMG_DS072577,"OMIM ID:619897 | UMLS ID:C5676995 | dilated cardiomyopathy 2G | cardiomyopathy, dilated, 2G | MONDO:0030887 | CARDIOMYOPATHY, DILATED, 2G | DOID:0081163 | OMIM ID:608006" +BMGC_DS18947,BMG_DS072578,hepatorenocardiac degenerative fibrosis | HEPATORENOCARDIAC DEGENERATIVE FIBROSIS | UMLS ID:C5676996 | MONDO:0859254 | OMIM ID:604730 | OMIM ID:619902 +BMGC_DS18948,BMG_DS072579,"UMLS ID:C5676997 | peripheral motor neuropathy, childhood-onset, biotin-responsive | MONDO:0859255 | OMIM ID:619903 | OMIM ID:604024 | PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE" +BMGC_DS18949,BMG_DS072580,neurodevelopmental disorder with language delay and seizures | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES | OMIM ID:600687 | UMLS ID:C5676998 | OMIM ID:619908 | DOID:0070444 | MONDO:0859256 +BMGC_DS18950,BMG_DS072581,"UMLS ID:C5676999 | PONTOCEREBELLAR HYPOPLASIA, TYPE 17 | OMIM ID:616741 | OMIM ID:619909 | MONDO:0030890 | pontocerebellar hypoplasia, IIA 17" +BMGC_DS18951,BMG_DS072582,"OMIM ID:619910 | intellectual developmental disorder, autosomal dominant 66 | UMLS ID:C5677000 | MONDO:0030891" +BMGC_DS18952,BMG_DS072583,OMIM ID:619911 | OMIM ID:601828 | MONDO:0859257 | intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM | UMLS ID:C5677001 +BMGC_DS18953,BMG_DS072584,MONDO:0030957 | UMLS ID:C5677002 | developmental and epileptic encephalopathy 103 | OMIM ID:176256 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 | OMIM ID:619913 | DOID:0070389 +BMGC_DS18954,BMG_DS072585,"MONDO:0030958 | DYSTONIA 35, CHILDHOOD-ONSET | DOID:0060955 | UMLS ID:C5677003 | OMIM ID:619921 | dystonia 35, childhood-onset | OMIM ID:613663" +BMGC_DS18955,BMG_DS072586,neurodevelopmental disorder with dystonia and seizures | UMLS ID:C5677004 | MONDO:0859258 | NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES | OMIM ID:613663 | OMIM ID:619922 +BMGC_DS18956,BMG_DS072587,UMLS ID:C5677005 | MONDO:0800104 | IMMUNODEFICIENCY 105 | OMIM ID:151460 | immunodeficiency 105 | OMIM ID:619924 +BMGC_DS18957,BMG_DS072588,"intellectual developmental disorder, autosomal dominant 67 | UMLS ID:C5677006 | MONDO:0030964 | OMIM ID:619927" +BMGC_DS18958,BMG_DS072589,"intellectual developmental disorder, autosomal recessive 76 | MONDO:0030968 | UMLS ID:C5677007 | OMIM ID:619931" +BMGC_DS18959,BMG_DS072590,"OMIM ID:619934 | UMLS ID:C5677008 | intellectual developmental disorder, autosomal dominant 68 | MONDO:0030969" +BMGC_DS18960,BMG_DS072591,"OMIM ID:107450 | UMLS ID:C5677009 | IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS | MONDO:0030970 | OMIM ID:619935 | immunodeficiency 106, susceptibility to viral infections" +BMGC_DS18961,BMG_DS072592,MONDO:0030972 | SPERMATOGENIC FAILURE 74 | DOID:0070573 | spermatogenic failure 74 | UMLS ID:C5677010 | OMIM ID:619937 | OMIM ID:603382 +BMGC_DS18962,BMG_DS072593,OMIM ID:602105 | OMIM ID:619938 | PREMATURE OVARIAN FAILURE 20 | premature ovarian failure 20 | UMLS ID:C5677011 | MONDO:0030975 +BMGC_DS18963,BMG_DS072594,CAREY-FINEMAN-ZITER SYNDROME 2 | OMIM ID:619912 | Carey-Fineman-Ziter syndrome 2 | OMIM ID:619941 | UMLS ID:C5677012 | MONDO:0100292 +BMGC_DS18964,BMG_DS072595,"MONDO:0030983 | UMLS ID:C5677013 | Waardenburg syndrome, IIa 2F | WAARDENBURG SYNDROME, TYPE 2F | OMIM ID:619947 | OMIM ID:184745" +BMGC_DS18965,BMG_DS072596,OMIM ID:618038 | MONDO:0030984 | DOID:0070574 | UMLS ID:C5677014 | OMIM ID:619949 | SPERMATOGENIC FAILURE 75 | spermatogenic failure 75 +BMGC_DS18966,BMG_DS072598,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 | UMLS ID:C5677016 | OMIM ID:619951 | Tessadori-Van Haaften neurodevelopmental syndrome 4 | OMIM ID:602833 | MONDO:0031000 +BMGC_DS18967,BMG_DS072599,UMLS ID:C5677017 | MONDO:0859260 | DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME | Dworschak-Punetha neurodevelopmental syndrome | OMIM ID:601055 | OMIM ID:619955 +BMGC_DS18968,BMG_DS072600,UMLS ID:C5677018 | MONDO:0859261 | OMIM ID:619957 | attention deficit-hyperactivity disorder 8 +BMGC_DS18969,BMG_DS072601,OMIM ID:613295 | ACCES syndrome | ACCES SYNDROME | UMLS ID:C5677019 | OMIM ID:619959 | MONDO:0859262 +BMGC_DS18970,BMG_DS072602,neurocardiofaciodigital syndrome | OMIM ID:619869 | NEUROCARDIOFACIODIGITAL SYNDROME | OMIM ID:606723 | UMLS ID:C5677020 | MONDO:0859247 +BMGC_DS18971,BMG_DS072603,"OMIM ID:213980 | MONDO:0800436 | UMLS ID:C5677021 | CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | DOID:0081124 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | OMIM ID:614123" +BMGC_DS18972,BMG_DS072604,UMLS ID:C5677022 | MONDO:0859239 | CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME | OMIM ID:619841 | OMIM ID:614062 | Chilton-Okur-Chung neurodevelopmental syndrome +BMGC_DS18973,BMG_DS072605,CHROMOSOME 2q23.1 DUPLICATION SYNDROME | autosomal dominant intellectual developmental disorder 1 | UMLS ID:C5677023 | OMIM ID:156200 | DOID:0070031 +BMGC_DS18974,BMG_DS072606,OMIM ID:300979 | UMLS ID:C5677024 | CHROMOSOME Xq25 TRIPLICATION SYNDROME +BMGC_DS18975,BMG_DS072607,DOID:0080764 | UMLS ID:C5677027 | hereditary diffuse gastric cancer | OMIM ID:192090 | OMIM ID:137215 | DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME WITH CLEFT LIP AND WITH OR WITHOUT CLEFT PALATE +BMGC_DS18976,BMG_DS072608,"UMLS ID:C5677030 | OMIM ID:619836 | MONDO:0859238 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE | hypoalphalipoproteinemia, primary, 2, intermediate | OMIM ID:107680" +BMGC_DS18977,BMG_DS072619,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb | OMIM ID:604980 | UMLS ID:C5677049" +BMGC_DS18978,BMG_DS072625,CUBITUS VALGUS WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND UNUSUAL FACIES | OMIM ID:300471 | X-linked intellectual disability-cubitus valgus-dysmorphism syndrome | UMLS ID:C5677056 | MONDO:0010332 +BMGC_DS18979,BMG_DS072626,chromosome Xq13 duplication syndrome | UMLS ID:C5677057 | OMIM ID:301069 | CHROMOSOME Xq13 DUPLICATION SYNDROME | MONDO:0859081 +BMGC_DS18980,BMG_DS072629,MONDO:0000050 | isolated congenital growth hormone deficiency | UMLS ID:C5679572 +BMGC_DS18981,BMG_DS072630,Mild haemophilia B | mild hemophilia B | SNOMEDCT ID:1336091009 | Mild hemophilia B | UMLS ID:C5679574 | MONDO:0015717 | Mild hereditary factor IX deficiency disease (disorder) | Mild hereditary factor IX deficiency disease +BMGC_DS18982,BMG_DS072631,Moderate hereditary factor IX deficiency disease | SNOMEDCT ID:1336092002 | Moderate haemophilia B | moderately severe hemophilia B | MONDO:0015716 | Moderate hereditary factor IX deficiency disease (disorder) | Moderate hemophilia B | UMLS ID:C5679575 +BMGC_DS18983,BMG_DS072632,Severe hereditary factor IX deficiency disease (disorder) | Severe hemophilia B | SNOMEDCT ID:1336093007 | MONDO:0015715 | Severe hereditary factor IX deficiency disease | severe hemophilia B | UMLS ID:C5679576 | Severe haemophilia B +BMGC_DS18984,BMG_DS072633,MONDO:0015701 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | UMLS ID:C5679577 +BMGC_DS18985,BMG_DS072634,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | UMLS ID:C5679578 | MONDO:0015703 +BMGC_DS18986,BMG_DS072635,MONDO:0015702 | UMLS ID:C5679579 | T-B+ severe combined immunodeficiency due to CD45 deficiency +BMGC_DS18987,BMG_DS072638,MONDO:0015746 | UMLS ID:C5679591 | male infertility due to globozoospermia +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 | 46,XX ovotesticular disorder of sex development (disorder) | UMLS ID:C5679613 | MONDO:0016281 | SNOMEDCT ID:1234906009" +BMGC_DS18990,BMG_DS072644,autosomal recessive ataxia due to PEX10 deficiency | MONDO:0016614 | UMLS ID:C5679614 +BMGC_DS18991,BMG_DS072645,MONDO:0016613 | APC-related attenuated familial adenomatous polyposis | UMLS ID:C5679615 +BMGC_DS18992,BMG_DS072646,UMLS ID:C5679618 | acute neonatal citrullinemia type I | MONDO:0016600 +BMGC_DS18993,BMG_DS072651,paternal 14q32.2 microdeletion syndrome | UMLS ID:C5679639 | MONDO:0016780 +BMGC_DS18994,BMG_DS072652,maternal 14q32.2 microdeletion syndrome | MONDO:0016781 | UMLS ID:C5679640 +BMGC_DS18995,BMG_DS072683,UMLS ID:C5679679 | Alagille syndrome due to 20p12 microdeletion | MONDO:0016861 +BMGC_DS18996,BMG_DS072684,MONDO:0016856 | Mowat-Wilson syndrome due to a ZEB2 point mutation | UMLS ID:C5679681 +BMGC_DS18997,BMG_DS072685,Okihiro syndrome due to 20q13 microdeletion | MONDO:0016863 | UMLS ID:C5679682 +BMGC_DS18998,BMG_DS072686,Okihiro syndrome due to a point mutation | UMLS ID:C5679683 | MONDO:0016864 +BMGC_DS18999,BMG_DS072692,UMLS ID:C5679693 | DOID:0070520 | peeling skin syndrome 1 +BMGC_DS19000,BMG_DS072722,UMLS ID:C5679767 | MONDO:0017096 | isolated focal cortical dysplasia type Ia +BMGC_DS19001,BMG_DS072723,UMLS ID:C5679768 | MONDO:0017102 | isolated focal cortical dysplasia type IIb +BMGC_DS19002,BMG_DS072725,congenital communicating hydrocephalus | MONDO:0017116 | UMLS ID:C5679774 +BMGC_DS19003,BMG_DS072726,"UMLS ID:C5679776 | MONDO:0017221 | Pelizaeus-Merzbacher disease, connatal form" +BMGC_DS19004,BMG_DS072729,"MONDO:0017172 | mucopolysaccharidosis type 6, slowly progressing | UMLS ID:C5679780" +BMGC_DS19005,BMG_DS072730,"MONDO:0017171 | UMLS ID:C5679781 | mucopolysaccharidosis type 6, rapidly progressing" +BMGC_DS19006,BMG_DS072731,UMLS ID:C5679782 | syndromic microphthalmia | MONDO:0016073 +BMGC_DS19007,BMG_DS072735,qualitative or quantitative defects of dystrophin | UMLS ID:C5679787 | MONDO:0016147 +BMGC_DS19008,BMG_DS072736,UMLS ID:C5679788 | LAMA2-related muscular dystrophy | MONDO:0100228 +BMGC_DS19009,BMG_DS072737,caveolinopathy | UMLS ID:C5679790 | MONDO:0016146 +BMGC_DS19010,BMG_DS072740,familial ovarian cancer | MONDO:0016248 | UMLS ID:C5679802 +BMGC_DS19011,BMG_DS072741,UMLS ID:C5679804 | MONDO:0016268 | papillary carcinoma of the corpus uteri +BMGC_DS19012,BMG_DS072744,UMLS ID:C5679810 | isolated congenitally uncorrected transposition of the great arteries | MONDO:0016302 +BMGC_DS19013,BMG_DS072746,UMLS ID:C5679812 | MONDO:0016304 | classic pantothenate kinase-associated neurodegeneration +BMGC_DS19014,BMG_DS072747,"MONDO:0016309 | Niemann-Pick disease type C, juvenile neurologic onset | UMLS ID:C5679813" +BMGC_DS19015,BMG_DS072748,MONDO:0016311 | UMLS ID:C5679814 | Bockenheimer syndrome +BMGC_DS19016,BMG_DS072749,"UMLS ID:C5679815 | mucopolysaccharidosis type 2, attenuated form | MONDO:0016316" +BMGC_DS19017,BMG_DS072750,Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency | Combined immunodeficiency due to DOCK8 deficiency | DOCK8 immunodeficiency syndrome | Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency (disorder) | UMLS ID:C5679816 | Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency | SNOMEDCT ID:1197205005 +BMGC_DS19018,BMG_DS072752,UMLS ID:C5679825 | MONDO:0016387 | mitochondrial oxidative phosphorylation disorder +BMGC_DS19019,BMG_DS072754,UMLS ID:C5679828 | MONDO:0016764 | isolated anophthalmia-microphthalmia syndrome +BMGC_DS19020,BMG_DS072755,UMLS ID:C5679833 | Hermansky-Pudlak syndrome without pulmonary fibrosis | MONDO:0016502 +BMGC_DS19021,BMG_DS072756,MONDO:0016501 | UMLS ID:C5679834 | Hermansky-Pudlak syndrome with pulmonary fibrosis +BMGC_DS19022,BMG_DS072761,MONDO:0016533 | UMLS ID:C5679845 | apolipoprotein A-II amyloidosis +BMGC_DS19023,BMG_DS072762,SNOMEDCT ID:1231284001 | Generalised DDEB (generalised dystrophic epidermolysis bullosa) | Autosomal dominant generalised dystrophic epidermolysis bullosa | DDEB (dominant dystrophic epidermolysis bullosa) intermediate | Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder) | Generalized DDEB (generalized dystrophic epidermolysis bullosa) | UMLS ID:C5679846 | Autosomal dominant generalized dystrophic epidermolysis bullosa +BMGC_DS19024,BMG_DS072764,MONDO:0016553 | UMLS ID:C5679849 | isolated congenital hypogonadotropic hypogonadism +BMGC_DS19025,BMG_DS072765,MONDO:0016564 | progressive supranuclear palsy-progressive non-fluent aphasia syndrome | UMLS ID:C5679850 +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,acute megakaryoblastic leukemia without down syndrome | UMLS ID:C5679860 | MONDO:0018004 +BMGC_DS19029,BMG_DS072772,classic congenital lipoid adrenal hyperplasia due to STAR deficency | UMLS ID:C5679869 | 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 | Multiple paraganglioma associated with polycythaemia | SNOMEDCT ID:1197217007 | multiple paragangliomas associated with polycythemia | Multiple paraganglioma associated with erythrocytosis | MONDO:0017926 | UMLS ID:C5679884 | Paraganglioma, somatostatinoma, polycythemia syndrome | Multiple paraganglioma associated with polycythemia (disorder) | Paraganglioma, somatostatinoma, polycythaemia syndrome" +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,UMLS ID:C5679898 | Neoplastic hypereosinophilic syndrome | SNOMEDCT ID:1264010001 | Primary HES (hypereosinophilic syndrome) | MONDO:0017833 | primary hypereosinophilic syndrome | Primary hypereosinophilic syndrome (disorder) | Primary hypereosinophilic syndrome | Clonal hypereosinophilic syndrome | HES-N - hypereosinophilic syndrome neoplastic +BMGC_DS19036,BMG_DS072786,MONDO:0017847 | autosomal recessive spastic ataxia | UMLS ID:C5679900 +BMGC_DS19037,BMG_DS072788,MONDO:0018276 | muscular dystrophy-dystroglycanopathy | UMLS ID:C5679911 +BMGC_DS19038,BMG_DS072789,"UMLS ID:C5679913 | mtDNA (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 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" +BMGC_DS19039,BMG_DS072790,Alexander disease type II | SNOMEDCT ID:1332388003 | Alexander disease type II (disorder) | UMLS ID:C5679914 | MONDO:0018210 | AxD (Alexander disease) type II +BMGC_DS19040,BMG_DS072791,Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder) | atypical hemolytic-uremic syndrome with DGKE deficiency | Hemolytic uremic syndrome with DGKE deficiency | Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency | UMLS ID:C5679921 | Haemolytic uraemic syndrome with DGKE deficiency | SNOMEDCT ID:1269225005 | MONDO:0018159 | Haemolytic uraemic syndrome with diacylglycerol kinase epsilon deficiency +BMGC_DS19041,BMG_DS072792,"MONDO:0009054 | autosomal recessive cutis laxa type 2, classic type | UMLS ID:C5679922" +BMGC_DS19042,BMG_DS072793,UMLS ID:C5679923 | MONDO:0018136 | minimal pigment oculocutaneous albinism type 1 +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,"MONDO:0018143 | UMLS ID:C5679927 | pyruvate carboxylase deficiency, benign type" +BMGC_DS19045,BMG_DS072796,"pyruvate carboxylase deficiency, infantile form | MONDO:0018141 | UMLS ID:C5679928" +BMGC_DS19046,BMG_DS072797,"UMLS ID:C5679929 | pyruvate carboxylase deficiency, severe neonatal type | MONDO:0018142" +BMGC_DS19047,BMG_DS072806,UMLS ID:C5679943 | MONDO:0017383 | familial clubfoot due to PITX1 point mutation +BMGC_DS19048,BMG_DS072807,UMLS ID:C5679944 | MONDO:0017382 | familial clubfoot due to 5q31 microdeletion +BMGC_DS19049,BMG_DS072808,MONDO:0017389 | tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria | UMLS ID:C5679945 +BMGC_DS19050,BMG_DS072810,4H leukodystrophy (disorder) | POLR3-related leukodystrophy | POLR-related leukodystrophy | MONDO:0700282 | POLR-related leucodystrophy | 4H leucodystrophy | SNOMEDCT ID:1208933000 | UMLS ID:C5679947 | 4H leukodystrophy +BMGC_DS19051,BMG_DS072812,MONDO:0017244 | UMLS ID:C5679949 | pseudoxanthomatous diffuse cutaneous mastocytosis +BMGC_DS19052,BMG_DS072818,MONDO:0017683 | methylcobalamin deficiency type cblDv1 | UMLS ID:C5679956 +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,"alpha-mannosidosis, adult form | UMLS ID:C5679974 | MONDO:0017733" +BMGC_DS19056,BMG_DS072825,zygodactyly type 3 | UMLS ID:C5679983 | MONDO:0017544 +BMGC_DS19057,BMG_DS072828,UMLS ID:C5679990 | Symptomatic form of hemochromatosis type 1 | SNOMEDCT ID:1237181009 | Symptomatic form of classic hemochromatosis | Symptomatic form of classic haemochromatosis | Symptomatic form of hemochromatosis type 1 (disorder) | Symptomatic form of haemochromatosis type 1 +BMGC_DS19058,BMG_DS072829,MONDO:0018733 | UMLS ID:C5679991 | intellectual disability syndrome due to a DYRK1A point mutation +BMGC_DS19059,BMG_DS072831,UMLS ID:C5679993 | MONDO:0018698 | hereditary neuroendocrine tumor of small intestine +BMGC_DS19060,BMG_DS072832,Congenital insensitivity to pain with severe non-progressive cognitive delay | Congenital insensitivity to pain with severe intellectual disability (disorder) | UMLS ID:C5679994 | Congenital insensitivity to pain with preserved temperature sensation | MONDO:0018682 | congenital insensitivity to pain with severe intellectual disability | Congenital analgesia with severe intellectual disability | Congenital absence of pain with severe intellectual disability | Congenital insensitivity to pain with severe intellectual disability | SNOMEDCT ID:1237623009 +BMGC_DS19061,BMG_DS072834,19p13.3 microduplication syndrome | SNOMEDCT ID:1229883008 | 19p13.3 microduplication syndrome (disorder) | UMLS ID:C5679996 | MONDO:0018658 +BMGC_DS19062,BMG_DS072841,AXIN2-related attenuated familial adenomatous polyposis | MONDO:0018426 | UMLS ID:C5680012 +BMGC_DS19063,BMG_DS072843,MONDO:0018463 | mild phosphoribosylpyrophosphate synthetase superactivity | UMLS ID:C5680016 +BMGC_DS19064,BMG_DS072844,UMLS ID:C5680017 | MONDO:0018464 | severe phosphoribosylpyrophosphate synthetase superactivity +BMGC_DS19065,BMG_DS072847,MONDO:0018324 | UMLS ID:C5680024 | adult-onset myasthenia gravis +BMGC_DS19066,BMG_DS072848,"MONDO:0018322 | HSD10 disease, infantile type | UMLS ID:C5680025" +BMGC_DS19067,BMG_DS072849,"UMLS ID:C5680026 | MONDO:0018323 | HSD10 disease, neonatal type" +BMGC_DS19068,BMG_DS072850,"multiple acyl-CoA dehydrogenase deficiency, mild type | MONDO:0018333 | UMLS ID:C5680028" +BMGC_DS19069,BMG_DS072851,"UMLS ID:C5680029 | MONDO:0018332 | multiple acyl-CoA dehydrogenase deficiency, severe neonatal type" +BMGC_DS19070,BMG_DS072857,UMLS ID:C5680040 | MONDO:0018355 | SIM bHLH transcription factor 1-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 +BMGC_DS19071,BMG_DS072860,"Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | SNOMEDCT ID:1197593006 | Intellectual disability, loss of expressive language, facial dysmorphism syndrome | UMLS ID:C5680043 | Intellectual disability, expressive aphasia, facial dysmorphism syndrome" +BMGC_DS19072,BMG_DS072861,"gastrointestinal defects and immunodeficiency syndrome 1 | MONDO:0800030 | Combined immunodeficiency, enteropathy spectrum (disorder) | Combined immunodeficiency, enteropathy spectrum | SNOMEDCT ID:1197428008 | UMLS ID:C5680044 | OMIM ID:243150 | CID-MIA/early-onset IBD - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease" +BMGC_DS19073,BMG_DS072862,SNOMEDCT ID:1220599002 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) | UMLS ID:C5680045 | MONDO:0018577 | PXE-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa +BMGC_DS19074,BMG_DS072863,Autosomal recessive primary immunodeficiency with defective spontaneous NK (natural killer) cell cytotoxicity | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity (disorder) | SNOMEDCT ID:1197366007 | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | UMLS ID:C5680046 | CD16 deficiency +BMGC_DS19075,BMG_DS072872,"Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome | Autosomal dominant myopia, midfacial retrusion, sensorineural deafness, rhizomelic dysplasia syndrome | UMLS ID:C5680056 | SNOMEDCT ID:1229999001 | MONDO:0018601 | Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) | autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome" +BMGC_DS19076,BMG_DS072873,UMLS ID:C5680057 | MONDO:0018614 | undetermined early-onset epileptic encephalopathy +BMGC_DS19077,BMG_DS072876,POTS (postural orthostatic tachycardia syndrome) due to NET (norepinephrine transporter) deficiency | Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency | UMLS ID:C5680060 | SNOMEDCT ID:1217211002 | Postural orthostatic tachycardia syndrome due to NET (norepinephrine transporter) deficiency | Orthostatic intolerance due to NET (norepinephrine transporter) deficiency | Familial orthostatic tachycardia due to norepinephrine transporter deficiency | Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency (disorder) +BMGC_DS19078,BMG_DS072881,Primary immunodeficiency with multifaceted aberrant lymphoid immunity | MONDO:0018642 | Primary immunodeficiency with multifaceted aberrant lymphoid immunity (disorder) | NIK deficiency | UMLS ID:C5680065 | SNOMEDCT ID:1197478005 | NF-kappa-B-inducing kinase deficiency +BMGC_DS19079,BMG_DS072882,MONDO:0018656 | UMLS ID:C5680067 | tremor-ataxia-central hypomyelination syndrome +BMGC_DS19080,BMG_DS072888,3-methylglutaconic aciduria type 8 | 3-methylglutaconic aciduria type 8 (disorder) | SNOMEDCT ID:1222671009 | UMLS ID:C5680084 +BMGC_DS19081,BMG_DS072889,MONDO:0044641 | SNOMEDCT ID:1228886008 | Deletion 9q33.3q34.11 | 9q33.3q34.11 microdeletion syndrome (disorder) | 9q33.3q34.11 microdeletion syndrome | Monosomy 9q33.3q34.11 | UMLS ID:C5680085 +BMGC_DS19082,BMG_DS072890,MONDO:0100528 | UMLS ID:C5680086 | Hao-Fountain syndrome due to 16p13.2 microdeletion | 16p13.2 microdeletion syndrome (disorder) | 16p13.2 microdeletion syndrome | SNOMEDCT ID:1228890005 | Monosomy 16p13.2 +BMGC_DS19083,BMG_DS072893,MONDO:0044682 | 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 | UMLS ID:C5680092 | Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) +BMGC_DS19084,BMG_DS072896,UMLS ID:C5680095 | congenital bile acid synthesis defect | MONDO:0018841 +BMGC_DS19085,BMG_DS072899,UMLS ID:C5680100 | MONDO:0018804 | MYO5B-related progressive familial intrahepatic cholestasis +BMGC_DS19086,BMG_DS072901,MONDO:0018776 | UMLS ID:C5680106 | demyelinating hereditary motor and sensory neuropathy +BMGC_DS19087,BMG_DS072905,Syndromic congenital sodium diarrhea (disorder) | UMLS ID:C5680120 | Syndromic congenital sodium diarrhea | Syndromic congenital sodium diarrhoea | MONDO:0034204 | Syndromic congenital tufting enteropathy | SNOMEDCT ID:1222709003 | syndromic congenital sodium diarrhea +BMGC_DS19088,BMG_DS072909,triglyceride deposit cardiomyovasculopathy | UMLS ID:C5680124 | Primary triglyceride deposit cardiomyovasculopathy (disorder) | Primary triglyceride deposit cardiomyovasculopathy | MONDO:0035423 | Neutral lipid storage disease with severe cardiovascular involvement | SNOMEDCT ID:1279844009 +BMGC_DS19089,BMG_DS072912,Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha | MONDO:0034216 | UMLS ID:C5680127 | Resistance to thyroid hormone alpha | Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha (disorder) | resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha | Resistance to thyroid hormone due to mutation in TRa | SNOMEDCT ID:1260240000 +BMGC_DS19090,BMG_DS072913,acute mast cell leukemia | UMLS ID:C5680128 | MONDO:0035444 +BMGC_DS19091,BMG_DS072914,Congenital autosomal recessive small-platelet thrombocytopenia (disorder) | CARST - congenital autosomal recessive small-platelet thrombocytopenia | UMLS ID:C5680129 | SNOMEDCT ID:1208617001 | Congenital autosomal recessive small-platelet thrombocytopenia | MONDO:0035441 | congenital autosomal recessive small-platelet thrombocytopenia +BMGC_DS19092,BMG_DS072915,MONDO:0035445 | chronic mast cell leukemia | UMLS ID:C5680130 +BMGC_DS19093,BMG_DS072919,UMLS ID:C5680134 | AKT serine/threonine kinase 2-related familial partial lipodystrophy | MONDO:0019192 | AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder) | AKT2-related familial partial lipodystrophy | SNOMEDCT ID:1197746001 +BMGC_DS19094,BMG_DS072921,Congenital primary lymphedema of Gordon | VEGFC-related congenital primary lymphoedema | UMLS ID:C5680138 | Congenital primary lymphoedema of Gordon | congenital primary lymphedema of Gordon | Congenital primary lymphedema of Gordon (disorder) | VEGFC-related congenital primary lymphedema | MONDO:0035500 | SNOMEDCT ID:1222669009 +BMGC_DS19095,BMG_DS072922,EPHB4-related generalized lymphatic dysplasia with atrial septal defect | MONDO:0035475 | EPHB4-related lymphatic-related hydrops fetalis | EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis | UMLS ID:C5680140 | EPHB4-related generalised lymphatic dysplasia with atrial septal defect | EPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalis | Ephrin receptor B4-related lymphatic-related hydrops fetalis (disorder) | Ephrin receptor B4-related lymphatic-related hydrops fetalis | SNOMEDCT ID:1222666002 +BMGC_DS19096,BMG_DS072923,Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma | Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma (disorder) | SNOMEDCT ID:1222645005 | KRT1-related nonepidermolytic palmoplantar keratoderma | UMLS ID:C5680142 | KRT1-related diffuse NEPPK (nonepidermolytic palmoplantar keratoderma) | KRT1-related diffuse nonepidermolytic 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,UMLS ID:C5680153 | Myopathic Ehlers-Danlos syndrome | Myopathic Ehlers-Danlos syndrome (disorder) | Ehlers-Danlos myopathy overlap syndrome | SNOMEDCT ID:1255116001 | Myopathic EDS (Ehlers-Danlos syndrome) +BMGC_DS19100,BMG_DS072929,PLG-related hereditary angioedema with normal C1inh | MONDO:0035220 | UMLS ID:C5680155 +BMGC_DS19101,BMG_DS072930,classic pyoderma gangrenosum | MONDO:0035235 | SNOMEDCT ID:1256055008 | Ulcerative pyoderma gangrenosum (disorder) | UMLS ID:C5680157 | Ulcerative pyoderma gangrenosum +BMGC_DS19102,BMG_DS072931,MONDO:0035238 | UMLS ID:C5680158 | vegetative pyoderma gangrenosum +BMGC_DS19103,BMG_DS072933,Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy | SNOMEDCT ID:1222656005 | MONDO:0034099 | UMLS ID:C5680163 | Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | SYNGAP1-related developmental and epileptic encephalopathy +BMGC_DS19104,BMG_DS072936,aHUS (atypical hemolytic uremic syndrome) with complement gene abnormality | Atypical hemolytic uremic syndrome with complement gene abnormality (disorder) | UMLS ID:C5680166 | Atypical haemolytic uraemic syndrome with complement gene abnormality | atypical hemolytic uremic syndrome with complement gene abnormality | MONDO:0035290 | aHUS (atypical haemolytic uraemic syndrome) with complement gene abnormality | SNOMEDCT ID:1293264009 | Atypical hemolytic uremic syndrome with complement gene abnormality +BMGC_DS19105,BMG_DS072938,MONDO:0035320 | early-onset familial hypoaldosteronism | UMLS ID:C5680171 +BMGC_DS19106,BMG_DS072940,UMLS ID:C5680178 | autosomal dominant intermediate Charcot-Marie-Tooth disease | MONDO:0019548 +BMGC_DS19107,BMG_DS072942,"UMLS ID:C5680180 | SCN9A-related congenital insensitivity to pain | SNOMEDCT ID:1279831004 | Congenital insensitivity to pain, anosmia, neuropathic arthropathy | Sodium voltage-gated channel alpha subunit 9-related congenital insensitivity to pain | Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder)" +BMGC_DS19108,BMG_DS072943,MONDO:0019502 | autosomal recessive non-syndromic intellectual disability | UMLS ID:C5680181 +BMGC_DS19109,BMG_DS072944,Non-syndromic genetic deafness | Non-syndromic genetic hearing loss (disorder) | Isolated genetic deafness | nonsyndromic genetic hearing loss | Non-syndromic genetic hearing loss | MONDO:0019497 | UMLS ID:C5680182 | Isolated genetic hearing loss | SNOMEDCT ID:1260199008 +BMGC_DS19110,BMG_DS072945,"MONDO:0020831 | Congenital NAD deficiency disorder | Congenital vertebral, cardiac, renal anomalies syndrome (disorder) | SNOMEDCT ID:1260142000 | UMLS ID:C5680183 | congenital vertebral-cardiac-renal anomalies syndrome | Congenital vertebral, cardiac, renal anomalies syndrome" +BMGC_DS19111,BMG_DS072946,17q24.2 microdeletion syndrome (disorder) | 17q24.2 microdeletion syndrome | UMLS ID:C5680185 | SNOMEDCT ID:1229873009 | MONDO:0035151 +BMGC_DS19112,BMG_DS072948,X-linked nonsyndromic hearing loss | UMLS ID:C5680192 | MONDO:0019586 +BMGC_DS19113,BMG_DS072949,MONDO:0035337 | Duane retraction syndrome with congenital hearing loss | Duane retraction syndrome with congenital deafness (disorder) | UMLS ID:C5680193 | Duane retraction syndrome with congenital deafness | SNOMEDCT ID:1230014007 +BMGC_DS19114,BMG_DS072952,UMLS ID:C5680203 | MONDO:0019258 | mild phenylketonuria +BMGC_DS19115,BMG_DS072954,"HSD10 disease, atypical type | UMLS ID:C5680206 | MONDO:0037149" +BMGC_DS19116,BMG_DS072955,UMLS ID:C5680207 | mild hyperphenylalaninemia | MONDO:0019335 +BMGC_DS19117,BMG_DS072957,UMLS ID:C5680210 | Kelch like family member 7-related Bohring Opitz-like syndrome | KLHL7-related Bohring-Opitz-like syndrome | SNOMEDCT ID:1300133004 | Kelch like family member 7-related Bohring Opitz-like syndrome (disorder) | KLHL7-related Bohring Opitz-like syndrome | KLHL7 (kelch like family member 7) related Bohring Opitz-like syndrome | MONDO:0035823 +BMGC_DS19118,BMG_DS072958,KLHL7-related cold-induced sweating-like syndrome | MONDO:0035824 | KLHL7-related Crisponi-like syndrome | KLHL7 (kelch like family member 7) related Crisponi/cold-induced sweating-like syndrome | SNOMEDCT ID:1304117006 | KLHL7-related Crisponi/cold-induced sweating-like syndrome | UMLS ID:C5680211 | 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 +BMGC_DS19119,BMG_DS072965,UMLS ID:C5680247 | MONDO:0019913 | silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 +BMGC_DS19120,BMG_DS072966,MONDO:0019915 | maternal uniparental disomy of chromosome 14 | UMLS ID:C5680248 +BMGC_DS19121,BMG_DS072968,OMIM ID:608149 | paternal uniparental disomy of chromosome 14 | UMLS ID:C5680251 | MONDO:0011975 +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,AFib amyloidosis | MONDO:0019733 | UMLS ID:C5680267 +BMGC_DS19125,BMG_DS072981,AApoAI amyloidosis | MONDO:0019731 | UMLS ID:C5680269 +BMGC_DS19126,BMG_DS072982,UMLS ID:C5680270 | MONDO:0019732 | ALys amyloidosis +BMGC_DS19127,BMG_DS072985,HEMS - hypomyelination of early myelinating structures | SNOMEDCT ID:1300130001 | UMLS ID:C5680278 | Hypomyelination of early myelinating structures (disorder) | Hypomyelination of early myelinating structures +BMGC_DS19128,BMG_DS072991,MONDO:0035694 | 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 +BMGC_DS19129,BMG_DS072993,complete atrioventricular canal-ventricle hypoplasia syndrome | UMLS ID:C5680290 | MONDO:0020407 +BMGC_DS19130,BMG_DS072997,"atrial septal defect, ostium primum type | MONDO:0020437 | UMLS ID:C5680294" +BMGC_DS19131,BMG_DS073004,"G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum | MONDO:0035660 | GNAO1-related spectrum | GNAO1-related developmental delay, seizures, movement disorder spectrum | G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | GNAO1-related developmental delay-seizures-movement disorder spectrum | SNOMEDCT ID:1281842000 | UMLS ID:C5680303" +BMGC_DS19132,BMG_DS073005,MONDO:0035646 | UMLS ID:C5680305 | congenital-onset Steinert myotonic dystrophy +BMGC_DS19133,BMG_DS073006,juvenile-onset Steinert myotonic dystrophy | UMLS ID:C5680306 | MONDO:0035648 +BMGC_DS19134,BMG_DS073007,MONDO:0035647 | childhood-onset Steinert myotonic dystrophy | UMLS ID:C5680307 +BMGC_DS19135,BMG_DS073008,late-onset Steinert myotonic dystrophy | UMLS ID:C5680308 | MONDO:0035650 +BMGC_DS19136,BMG_DS073009,UMLS ID:C5680309 | MONDO:0035649 | adult-onset Steinert myotonic dystrophy +BMGC_DS19137,BMG_DS073010,"Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | OMIM ID:620186 | SNOMEDCT ID:1281843005 | MONDO:0035651 | Lysine methyltransferase 2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | UMLS ID:C5680310 | KMT2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)" +BMGC_DS19138,BMG_DS073011,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | UMLS ID:C5680313 | RHOA-related mosaic ectodermal dysplasia | SNOMEDCT ID:1208985003 | MONDO:0035124 | linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | RHOA (ras homolog family member A) related mosaic ectodermal dysplasia" +BMGC_DS19139,BMG_DS073012,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | DOID:0080643 | B-lymphoblastic leukemia/lymphoma with BCR-ABL1 | UMLS ID:C5680319 | MONDO:0035940 +BMGC_DS19140,BMG_DS073013,UMLS ID:C5680320 | DOID:0080649 | B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 +BMGC_DS19141,BMG_DS073015,Autosomal recessive isolated optic atrophy | UMLS ID:C5680331 | Autosomal recessive non-syndromic optic atrophy | SNOMEDCT ID:1197151003 | Autosomal recessive isolated optic atrophy (disorder) +BMGC_DS19142,BMG_DS073016,UMLS ID:C5680338 | neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency | MONDO:0035930 +BMGC_DS19143,BMG_DS073019,MONDO:0020303 | UMLS ID:C5680342 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 +BMGC_DS19144,BMG_DS073020,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | UMLS ID:C5680343 | MONDO:0020298 +BMGC_DS19145,BMG_DS073021,"SNOMEDCT ID:1197429000 | MONDO:0035551 | CARASAL - cathepsin A-related arteriopathy, strokes, leukoencephalopathy | Cathepsin A-related arteriopathy, strokes, leukoencephalopathy (disorder) | cathepsin a-related arteriopathy-strokes-leukoencephalopathy | UMLS ID:C5680354 | Cathepsin A-related arteriopathy, strokes, leukoencephalopathy | Cathepsin A-related arteriopathy, strokes, leucoencephalopathy | CARASAL - cathepsin A-related arteriopathy, strokes, leucoencephalopathy" +BMGC_DS19146,BMG_DS073024,Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency | SNOMEDCT ID:1279842008 | 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 | MONDO:0035548 | UMLS ID:C5680361 | autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency +BMGC_DS19147,BMG_DS073025,blepharophimosis-ptosis-epicanthus inversus syndrome type 2 | MONDO:0035525 | UMLS ID:C5680363 +BMGC_DS19148,BMG_DS073026,"2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia | OAS1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | 2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | MONDO:0035529 | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia | UMLS ID:C5680364 | infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | SNOMEDCT ID:1197476009 | OAS1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia" +BMGC_DS19149,BMG_DS073027,blepharophimosis-ptosis-epicanthus inversus syndrome type 1 | MONDO:0035524 | UMLS ID:C5680365 +BMGC_DS19150,BMG_DS073036,lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster | MONDO:0036218 | UMLS ID:C5680385 +BMGC_DS19151,BMG_DS073047,UMLS ID:C5680398 | non-syndromic non-specific multisutural craniosynostosis | MONDO:0850078 +BMGC_DS19152,BMG_DS073061,MONDO:0850096 | SBDS-related severe neonatal spondylometaphyseal dysplasia | UMLS ID:C5680412 +BMGC_DS19153,BMG_DS073062,MONDO:0850067 | UMLS ID:C5680413 | immune deficiency due to impaired neutrophil phagocytosis and migration +BMGC_DS19154,BMG_DS073063,MONDO:0850066 | SAMD9L-associated autoinflammatory syndrome | UMLS ID:C5680414 +BMGC_DS19155,BMG_DS073064,familial hyperinflammatory lymphoproliferative immunodeficiency | MONDO:0850069 | UMLS ID:C5680415 +BMGC_DS19156,BMG_DS073065,MONDO:0850068 | early-onset autoimmunity-autoinflammation-immunodeficiency syndrome | UMLS ID:C5680416 +BMGC_DS19157,BMG_DS073066,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 | SNOMEDCT ID:1336113009 | UMLS ID:C5680417 | MONDO:0850070 | CADINS disease | Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) +BMGC_DS19158,BMG_DS073068,"Developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form | Developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form (disorder) | MONDO:0020569 | Intermediate DEND syndrome | UMLS ID:C5680423 | Intermediate DEND (developmental delay, epilepsy, neonatal diabetes) syndrome | SNOMEDCT ID:1303868000 | intermediate DEND syndrome" +BMGC_DS19159,BMG_DS073072,Severe congenital nemaline myopathy | Severe congenital nemaline myopathy (disorder) | SNOMEDCT ID:1197157004 | MONDO:0015735 | severe congenital nemaline myopathy | UMLS ID:C5680451 +BMGC_DS19160,BMG_DS073073,UMLS ID:C5680452 | MONDO:0015736 | SNOMEDCT ID:1197156008 | Intermediate nemaline myopathy | Intermediate nemaline myopathy (disorder) | intermediate nemaline myopathy +BMGC_DS19161,BMG_DS073074,MONDO:0015737 | typical nemaline myopathy | SNOMEDCT ID:1197153000 | Typical nemaline myopathy | Typical nemaline myopathy (disorder) | UMLS ID:C5680453 +BMGC_DS19162,BMG_DS073080,UMLS ID:C5680502 | MONDO:0015802 | autosomal dominant non-syndromic intellectual disability +BMGC_DS19163,BMG_DS073082,MONDO:0015787 | symptomatic form of hemophilia A in female carriers | UMLS ID:C5680504 +BMGC_DS19164,BMG_DS073083,symptomatic form of hemophilia B in female carriers | UMLS ID:C5680505 | MONDO:0015788 +BMGC_DS19165,BMG_DS073084,UMLS ID:C5680507 | MONDO:0015783 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 +BMGC_DS19166,BMG_DS073085,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | MONDO:0015784 | UMLS ID:C5680508 +BMGC_DS19167,BMG_DS073086,UMLS ID:C5680509 | Prader-Willi syndrome due to translocation | MONDO:0015785 +BMGC_DS19168,BMG_DS073087,MONDO:0015786 | Prader-Willi syndrome due to imprinting mutation | UMLS ID:C5680510 +BMGC_DS19169,BMG_DS073088,MONDO:0015791 | UMLS ID:C5680513 | peripheral precocious puberty +BMGC_DS19170,BMG_DS073093,familial isolated hypoparathyroidism due to impaired PTH secretion | MONDO:0016000 | UMLS ID:C5680524 +BMGC_DS19171,BMG_DS073094,MONDO:0000508 | syndromic intellectual disability | UMLS ID:C5680525 +BMGC_DS19172,BMG_DS073096,MONDO:0015962 | inherited renal tubular disease | UMLS ID:C5680544 +BMGC_DS19173,BMG_DS073097,inherited neurodegenerative disorder | UMLS ID:C5680568 | MONDO:0024237 +BMGC_DS19174,BMG_DS073111,MONDO:0015520 | late infantile CACH syndrome | UMLS ID:C5680648 +BMGC_DS19175,BMG_DS073112,MONDO:0015521 | UMLS ID:C5680649 | juvenile or adult CACH syndrome +BMGC_DS19176,BMG_DS073113,congenital or early infantile CACH syndrome | MONDO:0015519 | UMLS ID:C5680650 +BMGC_DS19177,BMG_DS073120,plaque-form urticaria pigmentosa | UMLS ID:C5680682 | MONDO:0015555 +BMGC_DS19178,BMG_DS073121,MONDO:0015554 | UMLS ID:C5680683 | typical urticaria pigmentosa +BMGC_DS19179,BMG_DS073122,UMLS ID:C5680684 | nodular urticaria pigmentosa | MONDO:0015556 +BMGC_DS19180,BMG_DS073125,UMLS ID:C5680696 | De novo thrombotic microangiopathy after renal transplant | De novo thrombotic microangiopathy following transplant of kidney (disorder) | SNOMEDCT ID:1264001009 | De novo thrombotic microangiopathy after kidney transplantation | De novo thrombotic microangiopathy following transplant of kidney +BMGC_DS19181,BMG_DS073131,maternal 14q32.2 hypermethylation syndrome | MONDO:0016783 | UMLS ID:C5680720 +BMGC_DS19182,BMG_DS073132,MONDO:0016782 | UMLS ID:C5680721 | paternal 14q32.2 hypomethylation syndrome +BMGC_DS19183,BMG_DS073133,UMLS ID:C5680724 | Kleefstra syndrome due to a point mutation | MONDO:0016865 +BMGC_DS19184,BMG_DS073138,UMLS ID:C5680770 | Baraitser Winter cerebrofrontofacial syndrome (disorder) | SNOMEDCT ID:1258972007 | Baraitser Winter cerebrofrontofacial syndrome +BMGC_DS19185,BMG_DS073143,UMLS ID:C5680778 | MONDO:0017111 | isolated Dandy-Walker malformation without hydrocephalus +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 | Autosomal semi-dominant severe lipodystrophic laminopathy | UMLS ID:C5680783 | Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) | MONDO:0017230 | SNOMEDCT ID:1197747005 +BMGC_DS19188,BMG_DS073149,Symptomatic form of Coffin-Lowry syndrome in female carrier (disorder) | UMLS ID:C5680787 | SNOMEDCT ID:1237577000 | MONDO:0017193 | symptomatic form of Coffin-Lowry syndrome in female carriers | Symptomatic form of Coffin-Lowry syndrome in female carrier +BMGC_DS19189,BMG_DS073152,UMLS ID:C5680794 | MONDO:0016112 | hereditary inclusion-body myopathy +BMGC_DS19190,BMG_DS073156,UMLS ID:C5680806 | qualitative or quantitative defects of delta-sarcoglycan | MONDO:0016144 +BMGC_DS19191,BMG_DS073158,MONDO:0016141 | qualitative or quantitative defects of alpha-sarcoglycan | UMLS ID:C5680808 +BMGC_DS19192,BMG_DS073165,MONDO:0016151 | qualitative or quantitative defects of perlecan | UMLS ID:C5680831 +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 | MONDO:0016198 | qualitative or quantitative defects of plectin +BMGC_DS19195,BMG_DS073183,"Niemann-Pick disease type C, severe perinatal form | MONDO:0016306 | UMLS ID:C5680866" +BMGC_DS19196,BMG_DS073184,"MONDO:0016308 | Niemann-Pick disease type C, late infantile neurologic onset | UMLS ID:C5680867" +BMGC_DS19197,BMG_DS073185,"UMLS ID:C5680868 | Niemann-Pick disease type C, severe early infantile neurologic onset | MONDO:0016307" +BMGC_DS19198,BMG_DS073186,"MONDO:0016310 | UMLS ID:C5680869 | Niemann-Pick disease type C, adult neurologic onset" +BMGC_DS19199,BMG_DS073196,silver-Russell syndrome due to an imprinting defect of 11p15 | UMLS ID:C5680916 | MONDO:0016480 +BMGC_DS19200,BMG_DS073197,silver-Russell syndrome due to 11p15 microduplication | UMLS ID:C5680917 | MONDO:0016481 +BMGC_DS19201,BMG_DS073198,Beckwith-Wiedemann syndrome due to CDKN1C mutation | MONDO:0016476 | UMLS ID:C5680918 +BMGC_DS19202,BMG_DS073201,UMLS ID:C5680922 | Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | MONDO:0016475 +BMGC_DS19203,BMG_DS073205,Beckwith-Wiedemann syndrome due to NSD1 mutation | UMLS ID:C5680933 | MONDO:0016547 +BMGC_DS19204,BMG_DS073210,non-classic congenital lipoid adrenal hyperplasia due to STAR deficency | UMLS ID:C5680948 | MONDO:0017973 +BMGC_DS19205,BMG_DS073214,MONDO:0017826 | null pituitary adenoma | UMLS ID:C5680967 +BMGC_DS19206,BMG_DS073216,MONDO:0018217 | UMLS ID:C5680974 | Koolen-de Vries syndrome due to a point mutation +BMGC_DS19207,BMG_DS073217,TRPV4-related bone disorder | UMLS ID:C5680977 | MONDO:0018240 +BMGC_DS19208,BMG_DS073218,UMLS ID:C5680987 | non-hereditary retinoblastoma | MONDO:0018161 +BMGC_DS19209,BMG_DS073227,"glycerol kinase deficiency, adult form | MONDO:0017296 | UMLS ID:C5681013" +BMGC_DS19210,BMG_DS073231,"glycerol kinase deficiency, juvenile form | MONDO:0017295 | UMLS ID:C5681029" +BMGC_DS19211,BMG_DS073248,UMLS ID:C5681074 | inborn aminoacylase deficiency | MONDO:0017686 +BMGC_DS19212,BMG_DS073250,intermediate severe Salla disease | UMLS ID:C5681076 | MONDO:0017737 +BMGC_DS19213,BMG_DS073253,"congenital vertical talus, unilateral | UMLS ID:C5681089 | MONDO:0017546" +BMGC_DS19214,BMG_DS073258,Fever-associated acute infantile liver failure syndrome (disorder) | infantile liver failure | UMLS ID:C5681094 | Fever-associated acute infantile liver failure syndrome | MONDO:0000023 | SNOMEDCT ID:1208726006 +BMGC_DS19215,BMG_DS073259,familial gastric type 1 neuroendocrine tumor | MONDO:0018742 | UMLS ID:C5681095 +BMGC_DS19216,BMG_DS073265,Symptomatic form of fragile X syndrome in female carrier | Symptomatic form of fragile X syndrome in female carrier (disorder) | symptomatic form of fragile X syndrome in female carrier | MONDO:0018670 | SNOMEDCT ID:1237344003 | UMLS ID:C5681104 +BMGC_DS19217,BMG_DS073267,SNOMEDCT ID:1260463008 | Isolated focal non-epidermolytic palmoplantar keratoderma (disorder) | UMLS ID:C5681107 | Isolated focal non-epidermolytic palmoplantar keratoderma +BMGC_DS19218,BMG_DS073268,"UMLS ID:C5681108 | SNOMEDCT ID:1230005002 | Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome | Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome | MONDO:0018657 | OMIM ID:618373" +BMGC_DS19219,BMG_DS073269,"UMLS ID:C5681121 | X-linked intellectual disability-hypotonia-movement disorder syndrome | SNOMEDCT ID:1254654006 | MONDO:0018709 | X-linked intellectual disability, hypotonia, movement disorder syndrome | X-linked intellectual disability, hypotonia, movement disorder syndrome (disorder)" +BMGC_DS19220,BMG_DS073270,"X-linked intellectual disability, short stature, overweight syndrome (disorder) | X-linked intellectual disability, short stature, overweight syndrome | UMLS ID:C5681122 | SNOMEDCT ID:1255335006" +BMGC_DS19221,BMG_DS073271,"SNOMEDCT ID:1260143005 | MONDO:0018710 | megalencephaly-severe kyphoscoliosis-overgrowth syndrome | Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder) | UMLS ID:C5681123 | Megalencephaly, severe kyphoscoliosis, overgrowth syndrome" +BMGC_DS19222,BMG_DS073274,DeSanto-Shinawi syndrome due to WAC point mutation | MONDO:0014741 | OMIM ID:616708 | UMLS ID:C5681129 +BMGC_DS19223,BMG_DS073278,UMLS ID:C5681146 | MONDO:0018461 | Angelman syndrome due to a point mutation +BMGC_DS19224,BMG_DS073280,"short stature-advanced bone age-early-onset osteoarthritis syndrome | Short stature, advanced bone age, early-onset osteoarthritis syndrome (disorder) | MONDO:0018566 | SNOMEDCT ID:1197586007 | UMLS ID:C5681177 | Short stature, advanced bone age, early-onset osteoarthritis syndrome" +BMGC_DS19225,BMG_DS073281,"X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) | SNOMEDCT ID:1197588008 | X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome | MONDO:0018569 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | UMLS ID:C5681178" +BMGC_DS19226,BMG_DS073282,"MONDO:0018572 | severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) | UMLS ID:C5681179 | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome | SNOMEDCT ID:1197591008" +BMGC_DS19227,BMG_DS073283,"UMLS ID:C5681180 | SNOMEDCT ID:1197592001 | Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | MONDO:0018573 | Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome (disorder)" +BMGC_DS19228,BMG_DS073284,"UMLS ID:C5681181 | Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | SNOMEDCT ID:1220596009 | Microcephalic primordial dwarfism, insulin resistance syndrome" +BMGC_DS19229,BMG_DS073285,"Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease (disorder) | UMLS ID:C5681182 | SNOMEDCT ID:1197418004 | Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease" +BMGC_DS19230,BMG_DS073286,Phosphodiesterase 4D haploinsufficiency syndrome | Phosphodiesterase 4D haploinsufficiency syndrome (disorder) | SNOMEDCT ID:1236843008 | PDE4D haploinsufficiency syndrome | UMLS ID:C5681186 +BMGC_DS19231,BMG_DS073289,UMLS ID:C5681190 | early-onset posterior subcapsular cataract | MONDO:0018610 +BMGC_DS19232,BMG_DS073290,MONDO:0018611 | UMLS ID:C5681191 | early-onset lamellar cataract +BMGC_DS19233,BMG_DS073293,"UMLS ID:C5681197 | Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | SNOMEDCT ID:1237470001 | Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder)" +BMGC_DS19234,BMG_DS073295,susceptibility to localized juvenile periodontitis | MONDO:0018643 | UMLS ID:C5681199 +BMGC_DS19235,BMG_DS073297,UMLS ID:C5681201 | hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome | MONDO:0018655 +BMGC_DS19236,BMG_DS073302,SNOMEDCT ID:1279843003 | UMLS ID:C5681240 | Short rib polydactyly syndrome type 5 | Short rib polydactyly syndrome type V | Short rib polydactyly syndrome type V (disorder) +BMGC_DS19237,BMG_DS073303,Elastin microfibril interfacer 1 related connective tissue disease (disorder) | MONDO:0044622 | EMILIN-1-related connective tissue disease | SNOMEDCT ID:1237511005 | Elastin microfibril interfacer 1 related connective tissue disease | UMLS ID:C5681244 +BMGC_DS19238,BMG_DS073304,UMLS ID:C5681246 | acquired schizencephaly | MONDO:0018839 +BMGC_DS19239,BMG_DS073305,SNOMEDCT ID:1220580006 | Isolated neonatal sclerosing cholangitis (disorder) | Isolated neonatal sclerosing cholangitis | UMLS ID:C5681248 +BMGC_DS19240,BMG_DS073307,syndromic constitutional thrombocytopenia | MONDO:0018795 | UMLS ID:C5681257 +BMGC_DS19241,BMG_DS073309,"UMLS ID:C5681271 | Primary hypomagnesemia, refractory seizures, intellectual disability syndrome (disorder) | SNOMEDCT ID:1269236003 | Primary hypomagnesaemia, refractory seizures, intellectual disability syndrome | Primary hypomagnesemia, refractory seizures, intellectual disability syndrome" +BMGC_DS19242,BMG_DS073327,MONDO:0019119 | muscular channelopathy | UMLS ID:C5681306 +BMGC_DS19243,BMG_DS073328,UMLS ID:C5681310 | MONDO:0019042 | multiple congenital anomalies/dysmorphic syndrome +BMGC_DS19244,BMG_DS073331,Pustular pyoderma gangrenosum (disorder) | pustular pyoderma gangrenosum | Pustular pyoderma gangrenosum | SNOMEDCT ID:1256081007 | UMLS ID:C5681317 | MONDO:0035236 +BMGC_DS19245,BMG_DS073333,"Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome | SNOMEDCT ID:1222655009 | Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) | UMLS ID:C5681321 | MONDO:0034092 | optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome" +BMGC_DS19246,BMG_DS073334,"atypical Fanconi syndrome-neonatal hyperinsulinism syndrome | MONDO:0034110 | UMLS ID:C5681324 | SNOMEDCT ID:1269271003 | Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome | Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder)" +BMGC_DS19247,BMG_DS073337,MONDO:0001713 | inherited aplastic anemia | UMLS ID:C5681331 +BMGC_DS19248,BMG_DS073338,"Early-onset calcifying leukoencephalopathy, skeletal dysplasia | UMLS ID:C5681333 | Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder) | MONDO:0034143 | SNOMEDCT ID:1222661007 | early-onset calcifying leukoencephalopathy-skeletal dysplasia | Early-onset calcifying leucoencephalopathy, skeletal dysplasia" +BMGC_DS19249,BMG_DS073339,"Pancreatic agenesis, holoprosencephaly syndrome (disorder) | SNOMEDCT ID:1222660008 | UMLS ID:C5681334 | Pancreatic agenesis, holoprosencephaly syndrome | pancreatic agenesis-holoprosencephaly syndrome | MONDO:0034142" +BMGC_DS19250,BMG_DS073340,"spastic ataxia-dysarthria due to glutaminase deficiency | MONDO:0034146 | Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | UMLS ID:C5681336 | SNOMEDCT ID:1255323007 | Spastic ataxia, dysarthria due to glutaminase deficiency" +BMGC_DS19251,BMG_DS073347,MONDO:0019530 | non-syndromic syndactyly | UMLS ID:C5681365 +BMGC_DS19252,BMG_DS073348,UMLS ID:C5681367 | MONDO:0957048 | isolated macular dystrophy +BMGC_DS19253,BMG_DS073354,LAMA5-related multisystemic syndrome | Laminin subunit alpha 5-related multisystemic syndrome (disorder) | Laminin subunit alpha 5-related multisystemic syndrome | UMLS ID:C5681442 | MONDO:0033856 | SNOMEDCT ID:1217370006 +BMGC_DS19254,BMG_DS073355,"Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome | MONDO:0035027 | UMLS ID:C5681443 | Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | SNOMEDCT ID:1279889005 | microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome" +BMGC_DS19255,BMG_DS073356,"UMLS ID:C5681444 | MONDO:0033853 | Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome (disorder) | Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome | SNOMEDCT ID:1260140008" +BMGC_DS19256,BMG_DS073358,"MONDO:0035105 | Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) | diaphragmatic hernia-short bowel-asplenia syndrome | SNOMEDCT ID:1217373008 | Diaphragmatic hernia, short bowel, asplenia syndrome | UMLS ID:C5681454" +BMGC_DS19257,BMG_DS073361,Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) | encephalopathy due to mitochondrial and peroxisomal fission defect | UMLS ID:C5681458 | MONDO:0054865 | Encephalopathy due to mitochondrial and peroxisomal fission defect | SNOMEDCT ID:1236807002 +BMGC_DS19258,BMG_DS073366,"UMLS ID:C5681470 | SNOMEDCT ID:1231281009 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder)" +BMGC_DS19259,BMG_DS073367,UMLS ID:C5681477 | inherited isolated nail anomaly | MONDO:0019284 +BMGC_DS19260,BMG_DS073379,UMLS ID:C5681523 | MONDO:0020071 | infantile epilepsy syndrome +BMGC_DS19261,BMG_DS073382,childhood-onset epilepsy syndrome | MONDO:0020072 | UMLS ID:C5681526 +BMGC_DS19262,BMG_DS073383,"CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome | SNOMEDCT ID:1332384001 | Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder) | Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome | CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome | MONDO:0035775 | UMLS ID:C5681527" +BMGC_DS19263,BMG_DS073384,"NRXN1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | UMLS ID:C5681528 | MONDO:0035774 | SNOMEDCT ID:1300131002 | Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance" +BMGC_DS19264,BMG_DS073387,MONDO:0009970 | renal tubular dysgenesis of genetic origin | OMIM ID:267430 | UMLS ID:C5681536 +BMGC_DS19265,BMG_DS073398,"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 | Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | UMLS ID:C5681583" +BMGC_DS19266,BMG_DS073400,"SNOMEDCT ID:1300119004 | 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 | SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome | UMLS ID:C5681587 | SETD2 (SET domain containing 2, histone lysine methyltransferase) related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome | MONDO:0035706 | SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)" +BMGC_DS19267,BMG_DS073402,UMLS ID:C5681589 | MONDO:0035713 | FOXG1 syndrome due to intragenic alteration +BMGC_DS19268,BMG_DS073403,UMLS ID:C5681598 | juvenile sialidosis type 2 | MONDO:0019681 +BMGC_DS19269,BMG_DS073404,congenital sialidosis type 2 | MONDO:0019682 | UMLS ID:C5681599 +BMGC_DS19270,BMG_DS073405,MONDO:0035734 | hereditary angioedema with normal C1inh not related to F12 or PLG variant | UMLS ID:C5681601 +BMGC_DS19271,BMG_DS073406,FGFR3-related chondrodysplasia | MONDO:0019685 | UMLS ID:C5681604 +BMGC_DS19272,BMG_DS073408,"MONDO:0019769 | UMLS ID:C5681613 | X-linked intellectual disability, Sutherland-Haan type" +BMGC_DS19273,BMG_DS073409,"UMLS ID:C5681614 | X-linked intellectual disability, Golabi-Ito-hall type | MONDO:0019768" +BMGC_DS19274,BMG_DS073410,MONDO:0019767 | UMLS ID:C5681615 | hamel cerebro-palato-cardiac syndrome +BMGC_DS19275,BMG_DS073411,"UMLS ID:C5681616 | MONDO:0019766 | X-linked intellectual disability, Porteous type" +BMGC_DS19276,BMG_DS073412,MONDO:0019742 | late-onset nephronophthisis | UMLS ID:C5681620 +BMGC_DS19277,BMG_DS073416,SNOMEDCT ID:1260095004 | Menke Hennekam syndrome | Menke Hennekam syndrome (disorder) | Menke-Hennekam syndrome | MONDO:0020774 | UMLS ID:C5681632 +BMGC_DS19278,BMG_DS073417,"TRAF7-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) | UMLS ID:C5681633 | Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome | SNOMEDCT ID:1208998007 | 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 | MONDO:0035661" +BMGC_DS19279,BMG_DS073419,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder (disorder) | MONDO:0035122 | GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder | Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder | SNOMEDCT ID:1260195002 | UMLS ID:C5681638" +BMGC_DS19280,BMG_DS073423,UMLS ID:C5681644 | early-onset nuclear cataract | MONDO:0020376 +BMGC_DS19281,BMG_DS073428,MONDO:0020297 | Noonan syndrome and Noonan-related syndrome | UMLS ID:C5681679 +BMGC_DS19282,BMG_DS073442,hereditary peripheral neuropathy | MONDO:0020127 | UMLS ID:C5681733 +BMGC_DS19283,BMG_DS073443,myopathic intestinal pseudoobstruction | MONDO:0015191 | UMLS ID:C5681739 +BMGC_DS19284,BMG_DS073448,UMLS ID:C5681803 | MONDO:0015096 | familial hypofibrinogenemia +BMGC_DS19285,BMG_DS073456,UMLS ID:C5681819 | MONDO:0036217 | lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation +BMGC_DS19286,BMG_DS073459,EGF-related primary hypomagnesemia with intellectual disability | UMLS ID:C5681825 | MONDO:0850088 +BMGC_DS19287,BMG_DS073460,primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome | MONDO:0850087 | UMLS ID:C5681826 +BMGC_DS19288,BMG_DS073461,F12-associated cold autoinflammatory syndrome | UMLS ID:C5681829 | MONDO:0850053 +BMGC_DS19289,BMG_DS073462,"UMLS ID:C5681830 | SNOMEDCT ID:1340174002 | developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome | Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome | MONDO:0850071 | Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome (disorder)" +BMGC_DS19290,BMG_DS073464,MONDO:0018462 | UMLS ID:C5681834 | Angelman syndrome due to imprinting defect in 15q11-q13 +BMGC_DS19291,BMG_DS073465,MONDO:0019220 | UMLS ID:C5681844 | inborn disorder of cobalamin metabolism and transport +BMGC_DS19292,BMG_DS073467,MONDO:0035499 | UMLS ID:C5681848 | CELSR1-related late-onset primary lymphedema | 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 lymphoedema | SNOMEDCT ID:1222668001 | Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema | CELSR1-related late-onset primary lymphoedema +BMGC_DS19293,BMG_DS073530,UMLS ID:C5686324 | Autosomal recessive amyotrophic lateral sclerosis type 1 | ALS1 AR - amyotrophic lateral sclerosis type 1 autosomal recessive | Autosomal recessive ALS (amyotrophic lateral sclerosis) type 1 | Autosomal recessive amyotrophic lateral sclerosis type 1 (disorder) | SNOMEDCT ID:1197524007 +BMGC_DS19294,BMG_DS073876,"UMLS ID:C5687848 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | SNOMEDCT ID:1217228004 | X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | MONDO:0018724 | X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder)" +BMGC_DS19295,BMG_DS073916,Chronic antibiotic-refractory pouchitis | UMLS ID:C5688196 | Chronic antibiotic-refractory ileal pouchitis (disorder) | SNOMEDCT ID:1217704000 | CARP - chronic antibiotic-refractory pouchitis | Chronic antibiotic-refractory ileal pouchitis +BMGC_DS19296,BMG_DS073917,SNOMEDCT ID:1220590003 | familial chilblain lupus | Familial chilblain lupus erythematosus (disorder) | Familial chilblain lupus erythematosus | MONDO:0018827 | UMLS ID:C5688224 +BMGC_DS19297,BMG_DS073918,UMLS ID:C5688227 | SNOMEDCT ID:1220598005 | MONDO:0018576 | Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy | non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy +BMGC_DS19298,BMG_DS073963,UMLS ID:C5688452 | SNOMEDCT ID:1229876001 | Lethal brain and heart developmental defects syndrome | Lethal brain and heart developmental defects syndrome (disorder) +BMGC_DS19299,BMG_DS074056,UMLS ID:C5690757 | Chronic Kidney Diseases of Uncertain Etiology | MeSH ID:D000092702 +BMGC_DS19300,BMG_DS074061,Perinatal Cytomegalovirus Infection | Cytomegalovirus Infections | MeSH ID:D003586 | UMLS ID:C5690863 +BMGC_DS19301,BMG_DS074062,MeSH ID:D009404 | UMLS ID:C5690874 | Nephrotic Syndrome | Childhood Idiopathic Nephrotic Syndrome +BMGC_DS19302,BMG_DS074063,"Complement 3 Glomerulopathies | UMLS ID:C5690882 | MeSH ID:D015432 | Glomerulonephritis, Membranoproliferative" +BMGC_DS19303,BMG_DS074087,MeSH ID:D001987 | Varicose Bronchiectasis | UMLS ID:C5691384 | Bronchiectasis +BMGC_DS19304,BMG_DS074088,MeSH ID:D002318 | Cardiovascular Diseases | Major Adverse Cardiac Events | UMLS ID:C5691385 +BMGC_DS19305,BMG_DS074091,Tooth Erosion | MeSH ID:D014077 | Dental Enamel Erosion | UMLS ID:C5691421 +BMGC_DS19306,BMG_DS074094,"dilated cardiomyopathy 1B | MONDO:0010951 | UMLS ID:C5700078 | cardiomyopathy, dilated, 1b | OMIM ID:600884 | MeSH ID:C536231" +BMGC_DS19307,BMG_DS074096,Glycogen Storage Disease Type II | UMLS ID:C5700101 | MeSH ID:D006009 | Acid Maltase Deficiency +BMGC_DS19308,BMG_DS074097,"Localized non-Herlitz junctional epidermolysis bullosa | Localised junctional epidermolysis bullosa non-Herlitz type | UMLS ID:C5700116 | Localized junctional epidermolysis bullosa non-Herlitz type (disorder) | SNOMEDCT ID:1254890002 | Localised non-Herlitz junctional epidermolysis bullosa | MONDO:0016673 | localized junctional epidermolysis bullosa, non-Herlitz type | Localized junctional epidermolysis bullosa non-Herlitz type" +BMGC_DS19309,BMG_DS074098,"Autosomal recessive axonal neuropathy with neuromyotonia | Myokymia, myotonia and muscle wasting | OMIM ID:137200 | MONDO:0007646 | Autosomal recessive axonal neuropathy with neuromyotonia (disorder) | Autosomal recessive neuromyotonia with axonal neuropathy | Gamstorp-Wohlfart syndrome | SNOMEDCT ID:711406009 | UMLS ID:C5700127" +BMGC_DS19310,BMG_DS074103,"TKT (transketolase) deficiency | Short stature, developmental delay, congenital heart defect syndrome | UMLS ID:C5700245 | OMIM ID:617044 | SNOMEDCT ID:1237512003 | Short stature, developmental delay, congenital heart defect syndrome (disorder) | MONDO:0014881 | transketolase deficiency" +BMGC_DS19311,BMG_DS074107,"MONDO:0100064 | Segawa syndrome, autosomal recessive | tyrosine hydroxylase deficiency | MeSH ID:C537537 | UMLS ID:C5700309" +BMGC_DS19312,BMG_DS074108,"OMIM ID:600857 | MONDO:0100294 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 | UMLS ID:C5700310 | mitochondrial complex II deficiency, nuclear type 1 | OMIM ID:252011" +BMGC_DS19313,BMG_DS074110,"OMIM ID:613135 | classic dopamine transporter deficiency syndrome | PARKINSONISM-DYSTONIA 1, INFANTILE-ONSET | MONDO:0054835 | UMLS ID:C5700336" +BMGC_DS19314,BMG_DS074112,DOID:0060177 | Carnosinase Deficiency | MeSH ID:C535328 | homocarnosinosis | UMLS ID:C5700357 +BMGC_DS19315,BMG_DS074113,Exercise-induced malignant hyperthermia (disorder) | MONDO:0018752 | UMLS ID:C5700399 | exercise-induced malignant hyperthermia | Exercise-induced malignant hyperthermia | SNOMEDCT ID:1237338002 +BMGC_DS19316,BMG_DS074116,"UMLS ID:C5703068 | MeSH ID:C563627 | Platyspondylic Lethal Skeletal Dysplasia, Luton Type" +BMGC_DS19317,BMG_DS074117,"MONDO:0859316 | iron overload, susceptibility to | UMLS ID:C5703292 | OMIM ID:620121" +BMGC_DS19318,BMG_DS074118,Hereditary von Willebrand disease | SNOMEDCT ID:1259242002 | hereditary von Willebrand disease | Hereditary von Willebrand disease (disorder) | MONDO:0019565 | UMLS ID:C5703318 +BMGC_DS19319,BMG_DS074121,"Asthma, Aspirin-Induced | MeSH ID:D055963 | UMLS ID:C5704570 | NSAID-Exacerbated Respiratory Disease" +BMGC_DS19320,BMG_DS074407,SNOMEDCT ID:1240462005 | Generalised inflammatory peeling skin syndrome | DOID:0070520 | Generalized inflammatory peeling skin syndrome (disorder) | UMLS ID:C5768235 | Generalized inflammatory peeling skin syndrome | peeling skin syndrome 1 +BMGC_DS19321,BMG_DS074640,"OMIM ID:212093 | cardiac valvular defect, developmental | OMIM ID:602382 | UMLS ID:C5774175 | DOID:0080633 | developmental cardiac valvular defect | MONDO:0008913 | CARDIAC VALVULAR DYSPLASIA 1" +BMGC_DS19322,BMG_DS074641,"PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE | pseudohypoaldosteronism, type IB1, autosomal recessive | UMLS ID:C5774176 | OMIM ID:264350 | MONDO:0009917 | 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 | OMIM ID:300491 | MONDO:0010339 | OMIM ID:313440" +BMGC_DS19324,BMG_DS074643,"UMLS ID:C5774178 | EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES | OMIM ID:301091 | epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | OMIM ID:305660 | MONDO:0859564" +BMGC_DS19325,BMG_DS074644,"OMIM ID:300237 | OMIM ID:301094 | neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | UMLS ID:C5774179 | MONDO:0859085 | HIJAZI-REIS SYNDROME" +BMGC_DS19326,BMG_DS074645,"intellectual developmental disorder, X-linked 110 | UMLS ID:C5774180 | OMIM ID:301095 | MONDO:0859086" +BMGC_DS19327,BMG_DS074646,"isolated microphthalmia 3 | UMLS ID:C5774181 | OMIM ID:601881 | MICROPHTHALMIA, SYNDROMIC 16 | OMIM ID:611038 | MONDO:0012604" +BMGC_DS19328,BMG_DS074647,"DOID:0070456 | UMLS ID:C5774182 | SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE | OMIM ID:619953 | MONDO:0031019 | OMIM ID:619966 | hereditary spastic paraplegia 87 | spastic paraplegia 87, autosomal recessive" +BMGC_DS19329,BMG_DS074648,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 | DOID:0070390 | UMLS ID:C5774183 | MONDO:0031021 | OMIM ID:192130 | OMIM ID:619970 | developmental and epileptic encephalopathy 104 +BMGC_DS19330,BMG_DS074649,NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY | UMLS ID:C5774184 | MONDO:0859265 | OMIM ID:619971 | neurodevelopmental disorder with epilepsy and brain atrophy | OMIM ID:192130 +BMGC_DS19331,BMG_DS074650,"MONDO:0859266 | UMLS ID:C5774185 | OMIM ID:609514 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY | OMIM ID:619972 | neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy" +BMGC_DS19332,BMG_DS074651,OMIM ID:603574 | TUMOR PREDISPOSITION SYNDROME 2 | OMIM ID:619975 | tumor predisposition syndrome 2 | UMLS ID:C5774186 | MONDO:0859267 +BMGC_DS19333,BMG_DS074652,"MACULAR DYSTROPHY, RETINAL, 4 | UMLS ID:C5774187 | OMIM ID:619977 | OMIM ID:187520 | retinal macular dystrophy 4 | DOID:0070441 | MONDO:0859568 | macular dystrophy, retinal, 4" +BMGC_DS19334,BMG_DS074653,Braddock-Carey syndrome 1 | BRADDOCK-CAREY SYNDROME 1 | MONDO:0859569 | UMLS ID:C5774188 | OMIM ID:619980 +BMGC_DS19335,BMG_DS074654,BRADDOCK-CAREY SYNDROME 2 | braddock-carey syndrome 2 | UMLS ID:C5774189 | OMIM ID:619981 | OMIM ID:617569 | MONDO:0859570 +BMGC_DS19336,BMG_DS074655,MONDO:0031028 | OMIM ID:605752 | OMIM ID:619983 | UMLS ID:C5774190 | developmental and epileptic encephalopathy 105 | developmental and epileptic encephalopathy 105 with hypopituitarism | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM | DOID:0070391 +BMGC_DS19337,BMG_DS074656,OMIM ID:619985 | OMIM ID:619979 | MONDO:0859271 | glycosylphosphatidylinositol biosynthesis defect 25 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 | UMLS ID:C5774191 +BMGC_DS19338,BMG_DS074657,"UMLS ID:C5774192 | OMIM ID:619986 | IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION | OMIM ID:615712 | MONDO:0031030 | immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection" +BMGC_DS19339,BMG_DS074658,"intellectual developmental disorder, autosomal recessive 77 | UMLS ID:C5774193 | OMIM ID:619988 | MONDO:0031031" +BMGC_DS19340,BMG_DS074659,OMIM ID:619989 | UMLS ID:C5774194 | OMIM ID:616662 | NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES | MONDO:0859272 | neurodevelopmental disorder with speech delay and variable ocular anomalies +BMGC_DS19341,BMG_DS074660,"OMIM ID:619991 | UMLS ID:C5774195 | LIVER DISEASE, SEVERE CONGENITAL | liver disease, severe congenital | MONDO:0859273 | OMIM ID:614606" +BMGC_DS19342,BMG_DS074661,"MONDO:0859274 | OMIM ID:619995 | NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES | neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies | OMIM ID:613176 | UMLS ID:C5774196" +BMGC_DS19343,BMG_DS074662,"NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES | MONDO:0859275 | UMLS ID:C5774197 | OMIM ID:620001 | OMIM ID:616173 | neurodevelopmental disorder with spasticity, seizures, and brain abnormalities" +BMGC_DS19344,BMG_DS074663,primordial dwarfism-immunodeficiency-lipodystrophy syndrome | OMIM ID:176635 | PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME | MONDO:0859276 | OMIM ID:620005 | UMLS ID:C5774198 +BMGC_DS19345,BMG_DS074664,OMIM ID:620007 | MONDO:0859277 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS | UMLS ID:C5774199 | OMIM ID:608302 | intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects +BMGC_DS19346,BMG_DS074665,"OMIM ID:620009 | keratoderma-ichthyosis-deafness syndrome, autosomal recessive | OMIM ID:608552 | MONDO:0859278 | UMLS ID:C5774200 | KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE" +BMGC_DS19347,BMG_DS074666,"MONDO:0859279 | DOID:0081425 | OMIM ID:620011 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 | UMLS ID:C5774201 | spinal muscular atrophy, distal, autosomal recessive, 6 | autosomal recessive distal hereditary motor neuronopathy 6 | OMIM ID:609139" +BMGC_DS19348,BMG_DS074667,"developmental delay, hypotonia, and impaired language | MONDO:0859280 | OMIM ID:620012 | UMLS ID:C5774202 | DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE | DOID:0070420 | OMIM ID:606278" +BMGC_DS19349,BMG_DS074668,UMLS ID:C5774203 | LYMPHATIC MALFORMATION 12 | lymphatic malformation 12 | OMIM ID:620014 | MONDO:0031043 | OMIM ID:614511 +BMGC_DS19350,BMG_DS074669,"DOID:0061006 | advanced sleep phase syndrome 4 | ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4 | advance sleep phase syndrome, familial, 4 | MONDO:0031044 | UMLS ID:C5774204 | OMIM ID:620015" +BMGC_DS19351,BMG_DS074670,"arthrogryposis, distal, IIa 11 | OMIM ID:620019 | MONDO:0031045 | UMLS ID:C5774205 | OMIM ID:164860 | ARTHROGRYPOSIS, DISTAL, TYPE 11" +BMGC_DS19352,BMG_DS074671,INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES | OMIM ID:620021 | intellectual developmental disorder with autism and dysmorphic facies | UMLS ID:C5774206 | MONDO:0859281 | OMIM ID:614235 +BMGC_DS19353,BMG_DS074672,"OMIM ID:620022 | STICKLER SYNDROME, TYPE VI | stickler syndrome, IIa 6 | MONDO:0031047 | OMIM ID:120270 | UMLS ID:C5774207" +BMGC_DS19354,BMG_DS074673,"UMLS ID:C5774208 | OMIM ID:118491 | neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES | OMIM ID:620023 | MONDO:0859282" +BMGC_DS19355,BMG_DS074674,"neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES | MONDO:0859283 | OMIM ID:603141 | OMIM ID:620024 | UMLS ID:C5774209" +BMGC_DS19356,BMG_DS074675,"MONDO:0859571 | OMIM ID:603687 | DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS | OMIM ID:620025 | UMLS ID:C5774210 | diaphragmatic hernia 4, with cardiovascular defects" +BMGC_DS19357,BMG_DS074676,"OMIM ID:602103 | OMIM ID:620027 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY | MONDO:0859285 | neurodevelopmental disorder with microcephaly, short stature, and speech delay | UMLS ID:C5774211" +BMGC_DS19358,BMG_DS074677,OMIM ID:620028 | UMLS ID:C5774212 | DOID:0070392 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 | MONDO:0031052 | OMIM ID:611482 | developmental and epileptic encephalopathy 106 +BMGC_DS19359,BMG_DS074678,"DOID:0070536 | OMIM ID:620029 | 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" +BMGC_DS19360,BMG_DS074679,"OMIM ID:603575 | CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS | ciliary dyskinesia, primary, 48, without situs inversus | MONDO:0031054 | UMLS ID:C5774214 | OMIM ID:620032" +BMGC_DS19361,BMG_DS074680,OMIM ID:620033 | MONDO:0031055 | UMLS ID:C5774215 | developmental and epileptic encephalopathy 107 +BMGC_DS19362,BMG_DS074681,"MONDO:0859287 | OMIM ID:620038 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE | OMIM ID:602017 | UMLS ID:C5774216 | neurodevelopmental disorder with microcephaly, hypotonia, and absent language" +BMGC_DS19363,BMG_DS074682,"DYSKERATOSIS CONGENITA, DIGENIC | MONDO:0031057 | OMIM ID:620040 | digenic dyskeratosis congenita | UMLS ID:C5774217 | dyskeratosis congenita, digenic | DOID:0060984 | OMIM ID:188350" +BMGC_DS19364,BMG_DS074683,OMIM ID:620044 | bone marrow failure and diabetes mellitus syndrome | OMIM ID:601266 | UMLS ID:C5774218 | MONDO:0859288 | BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME +BMGC_DS19365,BMG_DS074684,INTESTINAL DYSMOTILITY SYNDROME | MONDO:0859289 | OMIM ID:610108 | intestinal dysmotility syndrome | UMLS ID:C5774219 | OMIM ID:620045 +BMGC_DS19366,BMG_DS074685,"MONDO:0031060 | OMIM ID:620047 | microcephaly 29, primary, autosomal recessive | UMLS ID:C5774220 | OMIM ID:608074 | MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE" +BMGC_DS19367,BMG_DS074686,"MONDO:0031061 | OMIM ID:601033 | NEPHROTIC SYNDROME, TYPE 26 | OMIM ID:620049 | nephrotic syndrome, IIa 26 | UMLS ID:C5774221" +BMGC_DS19368,BMG_DS074687,MONDO:0031062 | polycystic kidney disease 7 | DOID:0060952 | OMIM ID:620056 | OMIM ID:604565 | UMLS ID:C5774222 | POLYCYSTIC KIDNEY DISEASE 7 +BMGC_DS19369,BMG_DS074688,"DOID:0070478 | MONDO:0100217 | diphthamide deficiency syndrome 2 | UMLS ID:C5774223 | OMIM ID:603456 | DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 | OMIM ID:620062 | developmental delay with short stature, dysmorphic facial features, and sparse hair 2" +BMGC_DS19370,BMG_DS074689,"UMLS ID:C5774224 | DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS | MONDO:0859292 | developmental delay, behavioral abnormalities, and neuropsychiatric disorders | OMIM ID:620065 | OMIM ID:616416" +BMGC_DS19371,BMG_DS074690,"UMLS ID:C5774225 | OMIM ID:611262 | neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | MONDO:0859293 | OMIM ID:620066 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT" +BMGC_DS19372,BMG_DS074691,CARDIAC VALVULAR DYSPLASIA 2 | cardiac valvular dysplasia 2 | UMLS ID:C5774226 | OMIM ID:607513 | OMIM ID:620067 | MONDO:0859572 +BMGC_DS19373,BMG_DS074692,"OMIM ID:620068 | MONDO:0031068 | UMLS ID:C5774227 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II | Charcot-Marie-Tooth disease, axonal, IIa 2II | OMIM ID:604878" +BMGC_DS19374,BMG_DS074693,"NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES | OMIM ID:620070 | MONDO:0859295 | OMIM ID:611075 | UMLS ID:C5774228 | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | DOID:0070479" +BMGC_DS19375,BMG_DS074694,"MONDO:0859296 | DOID:0081324 | OMIM ID:620071 | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | OMIM ID:602706 | UMLS ID:C5774229 | BIRK-AHARONI SYNDROME" +BMGC_DS19376,BMG_DS074695,MONDO:0031071 | OMIM ID:620072 | Diamond-Blackfan anemia 21 | OMIM ID:614951 | UMLS ID:C5774230 | DIAMOND-BLACKFAN ANEMIA 21 +BMGC_DS19377,BMG_DS074696,OMIM ID:620073 | MONDO:0859297 | neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | UMLS ID:C5774231 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES | OMIM ID:607201 +BMGC_DS19378,BMG_DS074697,"UMLS ID:C5774232 | MONDO:0859298 | OMIM ID:613585 | OMIM ID:620075 | neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY" +BMGC_DS19379,BMG_DS074698,bent bone dysplasia syndrome 2 | MONDO:0859573 | BENT BONE DYSPLASIA SYNDROME 2 | OMIM ID:620076 | OMIM ID:601033 | DOID:0060993 | UMLS ID:C5774233 +BMGC_DS19380,BMG_DS074699,"autosomal dominant distal hereditary motor neuronopathy 10 | neuronopathy, distal hereditary motor, autosomal dominant 10 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10 | OMIM ID:130660 | DOID:0081399 | UMLS ID:C5774234 | MONDO:0859300 | OMIM ID:620080" +BMGC_DS19381,BMG_DS074700,OMIM ID:601035 | MONDO:0859301 | NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS | UMLS ID:C5774235 | OMIM ID:620083 | neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects +BMGC_DS19382,BMG_DS074701,OMIM ID:612324 | SPERMATOGENIC FAILURE 76 | UMLS ID:C5774236 | MONDO:0031077 | spermatogenic failure 76 | OMIM ID:620084 | DOID:0070575 +BMGC_DS19383,BMG_DS074702,OMIM ID:102910 | UMLS ID:C5774237 | MONDO:0859302 | HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 | hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 | OMIM ID:620085 +BMGC_DS19384,BMG_DS074703,intellectual developmental disorder with ocular anomalies and distinctive facial features | OMIM ID:620086 | DOID:0081301 | OMIM ID:616951 | UMLS ID:C5774238 | MONDO:0859303 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES +BMGC_DS19385,BMG_DS074704,"MONDO:0859304 | OMIM ID:620089 | OMIM ID:604407 | neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction | UMLS ID:C5774240 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION" +BMGC_DS19386,BMG_DS074705,OMIM ID:620094 | DOID:0081275 | NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA | OMIM ID:616309 | MONDO:0859305 | neurodevelopmental disorder with eye movement abnormalities and ataxia | UMLS ID:C5774241 +BMGC_DS19387,BMG_DS074706,OMIM ID:601594 | 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:620098 +BMGC_DS19388,BMG_DS074707,UMLS ID:C5774243 | OMIM ID:620099 | CLEIDOCRANIAL DYSPLASIA 2 | cleidocranial dysplasia 2 | OMIM ID:121360 | MONDO:0859307 +BMGC_DS19389,BMG_DS074708,retinitis pigmentosa 95 | RETINITIS PIGMENTOSA 95 | MONDO:0859308 | OMIM ID:610362 | OMIM ID:620102 | UMLS ID:C5774244 +BMGC_DS19390,BMG_DS074709,UMLS ID:C5774245 | DOID:0070576 | OMIM ID:604839 | MONDO:0031083 | OMIM ID:620103 | spermatogenic failure 77 | SPERMATOGENIC FAILURE 77 +BMGC_DS19391,BMG_DS074710,"OMIM ID:620104 | amelogenesis imperfecta type 1K | AMELOGENESIS IMPERFECTA, TYPE IK | DOID:0060945 | UMLS ID:C5774246 | MONDO:0031084 | amelogenesis imperfecta, IIa 1K" +BMGC_DS19392,BMG_DS074711,"SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT | UMLS ID:C5774247 | DOID:0070457 | OMIM ID:620106 | spastic paraplegia 88, autosomal dominant | hereditary spastic paraplegia 88 | OMIM ID:601892 | MONDO:0859309" +BMGC_DS19393,BMG_DS074712,OROFACIODIGITAL SYNDROME XIX | OMIM ID:608095 | MONDO:0859310 | OMIM ID:620107 | orofaciodigital syndrome XIX | UMLS ID:C5774248 | DOID:0060960 | orofaciodigital syndrome 19 +BMGC_DS19394,BMG_DS074713,"Charcot-Marie-Tooth disease, demyelinating, type 1J | MONDO:0859311 | OMIM ID:620111 | UMLS ID:C5774249 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J | OMIM ID:147267" +BMGC_DS19395,BMG_DS074714,"UMLS ID:C5774251 | neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | OMIM ID:620113 | OMIM ID:608866 | MONDO:0859312 | NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES" +BMGC_DS19396,BMG_DS074715,neurodevelopmental disorder with speech impairment and with or without seizures | OMIM ID:608230 | UMLS ID:C5774252 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES | OMIM ID:620114 | MONDO:0859313 +BMGC_DS19397,BMG_DS074716,UMLS ID:C5774253 | DOID:0070394 | OMIM ID:620115 | OMIM ID:612258 | MONDO:0859314 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 | developmental and epileptic encephalopathy 108 +BMGC_DS19398,BMG_DS074717,"pseudohypoaldosteronism, type IB2, autosomal recessive | MONDO:0859317 | OMIM ID:600760 | UMLS ID:C5774255 | OMIM ID:620125 | PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE" +BMGC_DS19399,BMG_DS074718,"pseudohypoaldosteronism, type IB3, autosomal recessive | MONDO:0859318 | UMLS ID:C5774256 | OMIM ID:600761 | PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE | OMIM ID:620126" +BMGC_DS19400,BMG_DS074719,"dyskeratosis congenita, autosomal recessive 8 | MONDO:0859319 | OMIM ID:620133 | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 | UMLS ID:C5774257 | OMIM ID:609683" +BMGC_DS19401,BMG_DS074720,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 | OMIM ID:603842 | mitochondrial complex I deficiency, nuclear type 39 | MONDO:0859320 | OMIM ID:620135 | UMLS ID:C5774258" +BMGC_DS19402,BMG_DS074721,"mitochondrial complex 3 deficiency, nuclear type 11 | OMIM ID:613844 | MONDO:0859321 | OMIM ID:620137 | UMLS ID:C5774259 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11" +BMGC_DS19403,BMG_DS074722,"MONDO:0859322 | OMIM ID:620138 | 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" +BMGC_DS19404,BMG_DS074723,OMIM ID:620139 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 | combined oxidative phosphorylation deficiency 56 | DOID:0070429 | MONDO:0859323 | UMLS ID:C5774261 | OMIM ID:614948 +BMGC_DS19405,BMG_DS074724,"developmental delay, language impairment, and ocular abnormalities | DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES | OMIM ID:620141 | OMIM ID:604226 | UMLS ID:C5774262 | MONDO:0859324" +BMGC_DS19406,BMG_DS074725,OMIM ID:603619 | OMIM ID:620145 | DOID:0070378 | MONDO:0859325 | developmental and epileptic encephalopathy 109 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 | UMLS ID:C5774263 +BMGC_DS19407,BMG_DS074726,"UMLS ID:C5774264 | MONDO:0859574 | ichthyosis, annular epidermolytic, 2 | ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 | OMIM ID:620148 | OMIM ID:139350" +BMGC_DS19408,BMG_DS074727,OMIM ID:620149 | OMIM ID:114204 | MONDO:0859327 | developmental and epileptic encephalopathy 110 | DOID:0070395 | UMLS ID:C5774265 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 +BMGC_DS19409,BMG_DS074728,"MONDO:0859328 | HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY | hypomagnesemia 7, renal, with or without dilated cardiomyopathy | DOID:0060972 | OMIM ID:620152 | OMIM ID:608268 | UMLS ID:C5774266 | renal hypomagnesemia 7, with or without dilated cardiomyopathy" +BMGC_DS19410,BMG_DS074729,MONDO:0859329 | OMIM ID:620142 | mosaic variegated aneuploidy syndrome 4 | UMLS ID:C5774267 | DOID:0060981 | OMIM ID:620153 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4 +BMGC_DS19411,BMG_DS074730,UMLS ID:C5774268 | OMIM ID:612053 | oocyte maturation defect 13 | OMIM ID:620154 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13 | MONDO:0859330 +BMGC_DS19412,BMG_DS074731,OMIM ID:612778 | Rabin-Pappas syndrome | RABIN-PAPPAS SYNDROME | OMIM ID:620155 | UMLS ID:C5774269 | MONDO:0859331 +BMGC_DS19413,BMG_DS074732,"OMIM ID:620156 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 | MONDO:0859332 | cortical dysplasia, complex, with other brain malformations 11 | OMIM ID:613231 | UMLS ID:C5774270" +BMGC_DS19414,BMG_DS074733,"OMIM ID:620157 | intellectual developmental disorder, autosomal dominant 70 | OMIM ID:612778 | UMLS ID:C5774271 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 | MONDO:0859333" +BMGC_DS19415,BMG_DS074734,SPINOCEREBELLAR ATAXIA 50 | spinocerebellar ataxia 50 | UMLS ID:C5774272 | MONDO:0859334 | OMIM ID:620158 | OMIM ID:602367 +BMGC_DS19416,BMG_DS074735,OMIM ID:620161 | MONDO:0859335 | CONGENITAL MYOPATHY 15 | OMIM ID:191039 | congenital myopathy 15 | DOID:0081347 | UMLS ID:C5774273 +BMGC_DS19417,BMG_DS074736,"OMIM ID:620166 | MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES | MONDO:0859336 | muscular dystrophy, congenital, with or without seizures | UMLS ID:C5774274 | OMIM ID:604027" +BMGC_DS19418,BMG_DS074737,combined oxidative phosphorylation deficiency 57 | UMLS ID:C5774275 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 | OMIM ID:620167 | OMIM ID:608188 | DOID:0070430 | MONDO:0859337 +BMGC_DS19419,BMG_DS074738,OMIM ID:620170 | SPERMATOGENIC FAILURE 78 | spermatogenic failure 78 | UMLS ID:C5774276 | OMIM ID:620160 | DOID:0070577 | MONDO:0859338 +BMGC_DS19420,BMG_DS074739,"tooth agenesis, selective, 10 | OMIM ID:620173 | MONDO:0859339 | TOOTH AGENESIS, SELECTIVE, 10 | UMLS ID:C5774277 | OMIM ID:612920" +BMGC_DS19421,BMG_DS074740,"spinocerebellar ataxia 27B, late-onset | UMLS ID:C5774278 | MONDO:0859340 | OMIM ID:620174 | OMIM ID:601515 | SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET" +BMGC_DS19422,BMG_DS074741,OMIM ID:611956 | DOID:0060968 | HYPOTRICHOSIS 15 | OMIM ID:620177 | hypotrichosis 15 | UMLS ID:C5774279 | MONDO:0859341 +BMGC_DS19423,BMG_DS074742,"OMIM ID:620183 | microcephaly 30, primary, autosomal recessive | OMIM ID:602452 | UMLS ID:C5774280 | MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE | MONDO:0859342" +BMGC_DS19424,BMG_DS074743,UMLS ID:C5774281 | Atelis syndrome 1 | ATELIS SYNDROME 1 | OMIM ID:610348 | OMIM ID:620184 | MONDO:0859575 +BMGC_DS19425,BMG_DS074744,MONDO:0859576 | Atelis syndrome 2 | OMIM ID:609386 | OMIM ID:620185 | ATELIS SYNDROME 2 | UMLS ID:C5774282 +BMGC_DS19426,BMG_DS074745,"MONDO:0859345 | OMIM ID:620186 | OMIM ID:602113 | 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" +BMGC_DS19427,BMG_DS074746,UMLS ID:C5774284 | DOID:0060982 | OMIM ID:620189 | MONDO:0859346 | OMIM ID:602686 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition +BMGC_DS19428,BMG_DS074747,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES | OMIM ID:620191 | MONDO:0859347 | neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities | OMIM ID:611610 | UMLS ID:C5774285" +BMGC_DS19429,BMG_DS074748,lacrimoauriculodentodigital syndrome 2 | DOID:0081371 | MONDO:0859577 | LACRIMOAURICULODENTODIGITAL SYNDROME 2 | UMLS ID:C5774286 | OMIM ID:620192 +BMGC_DS19430,BMG_DS074749,lacrimoauriculodentodigital syndrome 3 | LACRIMOAURICULODENTODIGITAL SYNDROME 3 | OMIM ID:620193 | DOID:0081372 | UMLS ID:C5774287 | MONDO:0859578 +BMGC_DS19431,BMG_DS074750,"neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies | OMIM ID:620194 | MONDO:0859350 | NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES | OMIM ID:617103 | UMLS ID:C5774288" +BMGC_DS19432,BMG_DS074751,OMIM ID:620195 | OBESITY AND HYPOPIGMENTATION | UMLS ID:C5774289 | obesity and hypopigmentation | MONDO:0859351 +BMGC_DS19433,BMG_DS074752,DOID:0070578 | MONDO:0859352 | spermatogenic failure 79 | UMLS ID:C5774290 | OMIM ID:615215 | SPERMATOGENIC FAILURE 79 | OMIM ID:620196 +BMGC_DS19434,BMG_DS074753,"OMIM ID:620187 | MONDO:0859353 | UMLS ID:C5774291 | OMIM ID:620197 | CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS | ciliary dyskinesia, primary, 49, without situs inversus" +BMGC_DS19435,BMG_DS074754,"OMIM ID:620198 | MONDO:0859354 | THYROID HORMONE METABOLISM, ABNORMAL, 3 | UMLS ID:C5774292 | thyroid hormone metabolism, abnormal, 3 | OMIM ID:165060" +BMGC_DS19436,BMG_DS074755,DOID:0070510 | OMIM ID:620199 | UMLS ID:C5774293 | inflammatory poikiloderma with hair abnormalities and acral keratoses | MONDO:0859355 | INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES +BMGC_DS19437,BMG_DS074756,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy | OMIM ID:612056 | congenital disorder of glycosylation, type IIy | UMLS ID:C5774294 | MONDO:0859356 | OMIM ID:620200" +BMGC_DS19438,BMG_DS074757,"MONDO:0859357 | congenital disorder of glycosylation, type IIz | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz | OMIM ID:620201 | UMLS ID:C5774295 | OMIM ID:601118" +BMGC_DS19439,BMG_DS074758,"MONDO:0859358 | UMLS ID:C5774296 | CARDIOMYOPATHY, DILATED, 2H | OMIM ID:601913 | OMIM ID:620203 | cardiomyopathy, dilated, 2H" +BMGC_DS19440,BMG_DS074759,"autosomal recessive spinocerebellar ataxia 33 | MONDO:0859360 | OMIM ID:620204 | UMLS ID:C5774297 | OMIM ID:620208 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 | DOID:0070414 | spinocerebellar ataxia, autosomal recessive 33" +BMGC_DS19441,BMG_DS074760,OMIM ID:620210 | MONDO:0859361 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA | OMIM ID:603385 | neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | UMLS ID:C5774298 +BMGC_DS19442,BMG_DS074761,"hyperinsulinemic hypoglycemia, familial, 8 | MONDO:0859362 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 | familial hyperinsulinemic hypoglycemia 8 | OMIM ID:616149 | DOID:0081328 | UMLS ID:C5774299 | OMIM ID:620211" +BMGC_DS19443,BMG_DS074762,"OMIM ID:620221 | OMIM ID:191342 | MONDO:0859363 | DOID:0070455 | spastic paraplegia 79A, autosomal dominant, with ataxia | hereditary spastic paraplegia 79A | UMLS ID:C5774300 | SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA" +BMGC_DS19444,BMG_DS074763,OMIM ID:620222 | OMIM ID:615288 | UMLS ID:C5774301 | DOID:0070579 | MONDO:0859364 | SPERMATOGENIC FAILURE 80 | spermatogenic failure 80 +BMGC_DS19445,BMG_DS074764,"UMLS ID:C5774302 | OMIM ID:620227 | DEAFNESS, AUTOSOMAL DOMINANT 85 | DOID:0070605 | MONDO:0859366 | OMIM ID:617445 | autosomal dominant nonsyndromic deafness 85 | hearing loss, autosomal dominant 85" +BMGC_DS19446,BMG_DS074765,OMIM ID:620228 | UMLS ID:C5774303 | retinitis pigmentosa 96 | RETINITIS PIGMENTOSA 96 | OMIM ID:181031 | MONDO:0859367 +BMGC_DS19447,BMG_DS074766,short QT syndrome 7 | SHORT QT SYNDROME 7 | MONDO:0859368 | UMLS ID:C5774304 | OMIM ID:106195 | OMIM ID:620231 +BMGC_DS19448,BMG_DS074767,"UMLS ID:C5774305 | JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA | OMIM ID:620232 | MONDO:0859369 | OMIM ID:600490 | joint contractures, osteochondromas, and B-cell lymphoma" +BMGC_DS19449,BMG_DS074768,"UMLS ID:C5774306 | MONDO:0859370 | RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA | OMIM ID:620233 | respiratory infections, recurrent, and failure to thrive with or without diarrhea | OMIM ID:606358" +BMGC_DS19450,BMG_DS074769,"OMIM ID:620235 | MONDO:0859371 | UMLS ID:C5774307 | rhabdomyolysis, susceptibility to, 1" +BMGC_DS19451,BMG_DS074770,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES | cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies | OMIM ID:611295 | UMLS ID:C5774308 | OMIM ID:620236 | MONDO:0859372" +BMGC_DS19452,BMG_DS074771,"DEAFNESS, AUTOSOMAL RECESSIVE 120 | UMLS ID:C5774309 | MONDO:0859374 | OMIM ID:620215 | hearing loss, autosomal recessive 120 | OMIM ID:620238" +BMGC_DS19453,BMG_DS074772,OMIM ID:619950 | UMLS ID:C5774310 | TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 | MONDO:0030993 | Tessadori-Van Haaften neurodevelopmental syndrome 3 | OMIM ID:602830 +BMGC_DS19454,BMG_DS074773,"MONDO:0031040 | UMLS ID:C5774311 | OMIM ID:620010 | OMIM ID:608552 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 | cholestasis, progressive familial intrahepatic, 12" +BMGC_DS19455,BMG_DS074774,"CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, WITH BRACHYDACTYLY | OMIM ID:600211 | OMIM ID:119600 | UMLS ID:C5774312" +BMGC_DS19456,BMG_DS074775,"OMIM ID:600211 | CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, DENTAL ANOMALIES ONLY | OMIM ID:119600 | UMLS ID:C5774315" +BMGC_DS19457,BMG_DS074776,MEDULLOBLASTOMA PREDISPOSITION SYNDROME | OMIM ID:155255 | OMIM ID:612250 | UMLS ID:C5774316 +BMGC_DS19458,BMG_DS074777,familial apolipoprotein gene cluster deletion syndrome | OMIM ID:620058 | MONDO:0859290 | FAMILIAL APOLIPOPROTEIN GENE CLUSTER DELETION SYNDROME | UMLS ID:C5774318 +BMGC_DS19459,BMG_DS074780,OMIM ID:149730 | LADD syndrome 1 | LADD SYNDROME 1 | OMIM ID:176943 | UMLS ID:C5774323 | MONDO:0100302 +BMGC_DS19460,BMG_DS074819,"DOID:0090039;DOID:0090034;DOID:0060730;DOID:0090046;DOID:0090041;DOID:0090037;DOID:0090050;DOID:0090055;DOID:0090042;DOID:0090043;DOID:0090057;DOID:0090038 | torsion dystonia 1 | ICD11 ID:8A02.0Z | dystonia 25 | X-linked dystonia-parkinsonism | torsion dystonia 6 | dystonia 27 | Genetic torsion dystonia | torsion dystonia 4 | torsion dystonia 13 | Idiopathic familial dystonia (disorder) | SNOMEDCT ID:230318005 | torsion dystonia 17 | ICD10 ID:G24.1 | dystonia 21 | dopa-responsive dystonia | Primary dystonia, unspecified | torsion dystonia 2 | Idiopathic familial dystonia | UMLS ID:C5779546 | myoclonic dystonia 11" +BMGC_DS19461,BMG_DS074821,MONDO:0019587 | autosomal dominant nonsyndromic hearing loss | UMLS ID:C5779548 +BMGC_DS19462,BMG_DS074823,Tortuosity of retinal arteries | Retinal hemorrhage with vascular tortuosity | Retinal arteriolar tortuosity | SNOMEDCT ID:1231183003 | UMLS ID:C5779553 | Retinal haemorrhage with vascular tortuosity | Familial isolated retinal arterial tortuosity | Familial isolated retinal arterial tortuosity (disorder) +BMGC_DS19463,BMG_DS074826,"Presenile dementia, Alzheimer's type | Primary degenerative dementia of the Alzheimer type, early onset | Dementia in Alzheimer's disease with early onset | UMLS ID:C5779573 | Alzheimer's disease with early onset | Dementia in Alzheimer's disease - type 2 | Dementia of the Alzheimers type with early onset | Primary degenerative dementia of the Alzheimer type, presenile onset (disorder) | Primary degenerative dementia of the Alzheimer type, presenile onset | SNOMEDCT ID:416780008" +BMGC_DS19464,BMG_DS074829,ICD11 ID:LD26.41 | Arthrogryposis multiplex congenita. | Arthrogryposis multiplex congenita (disorder) | Arthrogryposis (disorder) | UMLS ID:C5779613 | SNOMEDCT ID:111246005 | Arthrogryposis (& [multiplex congenita]) (disorder) | MONDO:0015168 | SNOMEDCT ID:205402004 | ICD10 ID:Q74.3 | Arthrogryposis multiplex congenita | Multiple congenital arthrogryposis | Arthrogryposis (& [multiplex congenita]) | AMC - arthrogryposis multiplex congenita | OMIM ID:MTHU009867 | SNOMEDCT ID:203040006 | arthrogryposis multiplex congenita | Arthrogryposis +BMGC_DS19465,BMG_DS074831,MONDO:0010775 | UMLS ID:C5779620 | OMIM ID:500004 | RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | retinitis pigmentosa-deafness syndrome +BMGC_DS19466,BMG_DS074832,FMNG - familial multinodular goitre | Familial multinodular goiter syndrome | Familial multinodular goitre | FMNG - familial multinodular goiter | Familial multinodular goiter syndrome (disorder) | UMLS ID:C5779622 | Familial multinodular goiter | Familial multinodular goitre syndrome | SNOMEDCT ID:1279836009 +BMGC_DS19467,BMG_DS074834,Breaking out - eruption | Skin rash | Eruption of skin (disorder) | Eruption | SNOMEDCT ID:271807003 | Eruption of skin | Skin eruption | UMLS ID:C5779629 | Exanthem | Rash +BMGC_DS19468,BMG_DS074836,"OMIM ID:167030 | MONDO:0020722 | DOID:0080652 | UMLS ID:C5779632 | NEPHROLITHIASIS, CALCIUM OXALATE, 1 | OMIM ID:610130 | nephrolithiasis susceptibility caused by SLC26A1 | calcium oxalate nephrolithiasis" +BMGC_DS19469,BMG_DS074837,LCAT (lecithin-cholesterol acyltransferase) deficiency | Lecithin cholesterol acyltransferase deficiency | SNOMEDCT ID:238091006 | UMLS ID:C5779633 | Lecithin cholesterol acyltransferase deficiency (disorder) | LCAT deficiency | MONDO:0018999 +BMGC_DS19470,BMG_DS074838,MONDO:0018208 | UMLS ID:C5779636 | neurofibromatosis type 1 due to NF1 mutation or intragenic deletion +BMGC_DS19471,BMG_DS074840,"OMIM ID:615026 | UMLS ID:C5779638 | RIBOFLAVIN TRANSPORTER DEFICIENCY, TYPE 1 | ariboflavinosis | MONDO:0004573" +BMGC_DS19472,BMG_DS074841,"Liver Failure, Fulminant | Liver Failure, Acute | MeSH ID:D017114 | UMLS ID:C5779644" +BMGC_DS19473,BMG_DS074845,Bannwarth syndrome | Steere's disease | SNOMEDCT ID:23502006 | Bannwarth syndrome (disorder) | SNOMEDCT ID:48982009 | Garin-Bujadoux-Bannwarth syndrome | Lyme disease (disorder) | UMLS ID:C5779706 | Lyme borreliosis | Tick-borne meningopolyneuritis | Lyme disease +BMGC_DS19474,BMG_DS074846,"Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome | UMLS ID:C5779710 | Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) | Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome | L1 syndrome | SNOMEDCT ID:716996008 | MONDO:0017140 | CRASH syndrome" +BMGC_DS19475,BMG_DS074847,X-linked complicated spastic paraplegia type 1 | UMLS ID:C5779711 | MONDO:0017630 +BMGC_DS19476,BMG_DS074850,MONDO:0020730 | carpal tunnel syndrome 1 | DOID:0070466 | OMIM ID:115430 | CARPAL TUNNEL SYNDROME 1 | UMLS ID:C5779776 +BMGC_DS19477,BMG_DS074856,"SNOMEDCT ID:1264009006 | Isolated COX (cytochrome C oxidase) deficiency | DOID:0081377 | UMLS ID:C5779825 | Isolated cytochrome C oxidase deficiency | Isolated cytochrome C oxidase deficiency (disorder) | Isolated mitochondrial respiratory chain complex IV deficiency | COX deficiency, benign infantile mitochondrial myopathy" +BMGC_DS19478,BMG_DS074857,"MONDO:0010170 | UMLS ID:C5779850 | Usher syndrome type 3A | USHER SYNDROME, TYPE IIIA | OMIM ID:606397 | OMIM ID:276902" +BMGC_DS19479,BMG_DS074860,OMIM ID:604004 | megalencephalic leukoencephalopathy with subcortical cysts 1 | MONDO:0024555 | UMLS ID:C5779875 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | OMIM ID:605908 +BMGC_DS19480,BMG_DS074861,UMLS ID:C5779877 | MONDO:0007105 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 | frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | DOID:0060213 | OMIM ID:105550 | OMIM ID:614260 +BMGC_DS19481,BMG_DS074862,MONDO:0017454 | Triphalangeal thumb and polysyndactyly syndrome | UMLS ID:C5779878 | OMIM ID:190605 | Triphalangeal thumb and polysyndactyly syndrome (disorder) | SNOMEDCT ID:719950001 | triphalangeal thumb-polysyndactyly syndrome +BMGC_DS19482,BMG_DS074866,COMPLEMENT COMPONENT 4B DEFICIENCY | OMIM ID:614379 | UMLS ID:C5779962 +BMGC_DS19483,BMG_DS074867,ICD10 ID:G93.45 | DEE - developmental and epileptic encephalopathy | Developmental and epileptic encephalopathy | SNOMEDCT ID:1275631007 | UMLS ID:C5779964 | Developmental and epileptic encephalopathy (disorder) +BMGC_DS19484,BMG_DS074870,OMIM ID:603896 | MONDO:0020507 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 | OMIM ID:606686 | DOID:0070374 | UMLS ID:C5779972 | leukoencephalopathy with vanishing white matter 1 +BMGC_DS19485,BMG_DS074871,OMIM ID:620315 | DOID:0070367 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 | leukoencephalopathy with vanishing white matter 5 | UMLS ID:C5779973 | MONDO:0957873 | OMIM ID:603945 +BMGC_DS19486,BMG_DS074873,"IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease | UMLS ID:C5779989 | SNOMEDCT ID:1260450002 | Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) | Infantile multisystem neurologic, endocrine, pancreatic disease" +BMGC_DS19487,BMG_DS074874,SNOMEDCT ID:1279837000 | CCMCO - congenital cataract microcornea with corneal opacity | Congenital cataract microcornea with corneal opacity (disorder) | Congenital cataract microcornea with corneal opacity | UMLS ID:C5779991 +BMGC_DS19488,BMG_DS074875,DOID:0070065 | OMIM ID:616355 | UMLS ID:C5779996 | Hogue-Janssens syndrome 1 | autosomal dominant intellectual developmental disorder 35 | HOUGE-JANSSENS SYNDROME 1 | MONDO:0014602 +BMGC_DS19489,BMG_DS074876,"SNOMEDCT ID:1269224009 | UMLS ID:C5780021 | Craniosynostosis, microretrognathia, severe intellectual disability syndrome | Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder)" +BMGC_DS19490,BMG_DS074877,MONDO:0008026 | autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | UMLS ID:C5780022 | OMIM ID:158600 +BMGC_DS19491,BMG_DS074879,"SNOMEDCT ID:1269233006 | 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) | UMLS ID:C5780029" +BMGC_DS19492,BMG_DS074884,Classic Refsum Disease | Refsum Disease | MeSH ID:D012035 | UMLS ID:C5780941 +BMGC_DS19493,BMG_DS074885,Refsum Disease | UMLS ID:C5781059 | MeSH ID:D012035 | Adult Refsum Disease +BMGC_DS19494,BMG_DS074887,Refsum Disease | UMLS ID:C5781118 | Hereditary Motor And Sensory Neuropathy IV | MeSH ID:D012035 +BMGC_DS19495,BMG_DS074893,craniofacial microsomia 2 | UMLS ID:C5781610 | OMIM ID:620444 | MONDO:0958194 +BMGC_DS19496,BMG_DS074895,MONDO:0700249 | DOID:0081358 | UMLS ID:C5781874 | OMIM ID:113800 | EPIDERMOLYTIC HYPERKERATOSIS 1 | OMIM ID:139350 | epidermolytic hyperkeratosis 1 +BMGC_DS19497,BMG_DS074896,Phytanic Acid Oxidase Deficiency | Refsum Disease | MeSH ID:D012035 | UMLS ID:C5781943 +BMGC_DS19498,BMG_DS074899,Refsum Disease | MeSH ID:D012035 | UMLS ID:C5782141 | Heredopathia Atactica Polyneuritiformis +BMGC_DS19499,BMG_DS075112,MONDO:0958353 | intermediate collagen VI-related muscular dystrophy | UMLS ID:C5816698 +BMGC_DS19500,BMG_DS075113,"CDK13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome | SNOMEDCT ID:1299154002 | Cyclin dependent kinase 13-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 disorder" +BMGC_DS19501,BMG_DS075144,OMIM ID:616863 | Hao-Fountain syndrome due to USP7 mutation | UMLS ID:C5816734 | MONDO:0958071 +BMGC_DS19502,BMG_DS075145,"Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder) | UMLS ID:C5816735 | SNOMEDCT ID:1303865002 | Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome" +BMGC_DS19503,BMG_DS075151,SNOMEDCT ID:1299153008 | Digenic hemochromatosis | Digenic hemochromatosis (disorder) | Digenic haemochromatosis | digenic hemochromatosis | MONDO:0958085 | UMLS ID:C5816744 +BMGC_DS19504,BMG_DS075154,UMLS ID:C5816748 | SNOMEDCT ID:1340041000 | Combined immunodeficiency due to FCH and mu domain containing endocytic adaptor 1 deficiency (disorder) | Combined immunodeficiency due to FCHO1 deficiency | Combined immunodeficiency due to FCH and mu domain containing endocytic adaptor 1 deficiency +BMGC_DS19505,BMG_DS075155,SNOMEDCT ID:1303910000 | Solute carrier family 40 member 1-related hemochromatosis | SLC40A1-related haemochromatosis | Solute carrier family 40 member 1-related hemochromatosis (disorder) | SLC40A1-related hemochromatosis | UMLS ID:C5816749 | Solute carrier family 40 member 1-related haemochromatosis +BMGC_DS19506,BMG_DS075156,UMLS ID:C5816750 | isolated primary pigmented nodular adrenocortical disease | primary pigmented nodular adrenocortical disease | MONDO:0958262 | DOID:0060280 +BMGC_DS19507,BMG_DS075157,craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome | UMLS ID:C5816752 | MONDO:0957473 +BMGC_DS19508,BMG_DS075158,"MYT1L-related Prader-Willi-like syndrome | SNOMEDCT ID:1303866001 | MYT1L-related developmental delay, intellectual disability, obesity syndrome | MONDO:0957477 | Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome | UMLS ID:C5816753 | MYT1L-related developmental delay-intellectual disability-obesity syndrome" +BMGC_DS19509,BMG_DS075163,MONDO:0968990 | genetic central precocious puberty in male | UMLS ID:C5816761 +BMGC_DS19510,BMG_DS075166,UMLS ID:C5816765 | MONDO:0958354 | genetic central precocious puberty in female +BMGC_DS19511,BMG_DS075173,"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder) | SNOMEDCT ID:1300198006 | SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2) related blepharophimosis, intellectual disability syndrome | SMARCA2-related blepharophimosis, intellectual disability syndrome | UMLS ID:C5816784 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome" +BMGC_DS19512,BMG_DS075177,UMLS ID:C5816789 | MONDO:0957428 | B-lymphoblastic leukemia with TCF3-HLF fusion | B-lymphoblastic leukemia/lymphoma with t(17;19) | 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,"HPDL-related Leigh-like encephalopathy | Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome | HPDL-related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome | UMLS ID:C5816791 | SNOMEDCT ID:1303585005 | HPDL (4-hydroxyphenylpyruvate dioxygenase like) related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome | Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome (disorder)" +BMGC_DS19515,BMG_DS075180,"UMLS ID:C5816792 | SNOMEDCT ID:1303586006 | 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 | Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome" +BMGC_DS19516,BMG_DS075183,UMLS ID:C5816796 | MONDO:0957443 | autosomal recessive ataxia due to PEX2 deficiency +BMGC_DS19517,BMG_DS075184,autosomal recessive ataxia due to PEX16 deficiency | MONDO:0957442 | UMLS ID:C5816797 +BMGC_DS19518,BMG_DS075186,Adult-onset spinocerebellar ataxia type 47 | Adult-onset SCA47 (spinocerebellar ataxia type 47) | PUM1-related cerebellar ataxia | Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | Pumilio RNA binding family member 1-related cerebellar ataxia | UMLS ID:C5816800 | SNOMEDCT ID:1303280001 +BMGC_DS19519,BMG_DS075187,"CHD8 overgrowth syndrome | Chromodomain helicase DNA binding protein 8 overgrowth syndrome | UMLS ID:C5816801 | SNOMEDCT ID:1304276001 | CHD8-related intellectual disability, autism, macrocephaly, tall stature syndrome | Chromodomain helicase DNA binding protein 8 overgrowth syndrome (disorder)" +BMGC_DS19520,BMG_DS075188,mesomelic dysplasia-digital anomalies-intellectual disability syndrome | UMLS ID:C5816803 | MONDO:0858998 +BMGC_DS19521,BMG_DS075746,Autonomic Central Nervous System Diseases | MeSH ID:D001342 | UMLS ID:C5828508 | Autonomic Nervous System Diseases +BMGC_DS19522,BMG_DS075747,MeSH ID:D001342 | UMLS ID:C5828509 | Autonomic Nervous System Diseases | Non-Familial Dysautonomia +BMGC_DS19523,BMG_DS075749,MONDO:0015483 | Mandibulofacial Dysostosis | MeSH ID:D008342 | Mandibulofacial Dysostosis (MFD1) | UMLS ID:C5828530 | mandibulofacial dysostosis +BMGC_DS19524,BMG_DS075750,MeSH ID:D014901 | Kunjin virus Infection | West Nile Fever | UMLS ID:C5828557 +BMGC_DS19525,BMG_DS075753,Septic Cavernous Sinusitis | Cavernous Sinus Thrombosis | MeSH ID:D020226 | UMLS ID:C5828565 +BMGC_DS19526,BMG_DS075754,Acute Regional Pain Syndrome | MeSH ID:D020918 | UMLS ID:C5828566 | Complex Regional Pain Syndromes +BMGC_DS19527,BMG_DS075755,MeSH ID:D020918 | UMLS ID:C5828567 | Chronic Regional Pain Syndrome | Complex Regional Pain Syndromes +BMGC_DS19528,BMG_DS075756,MeSH ID:D028361 | Mitochondrial Defect | Mitochondrial Diseases | UMLS ID:C5828574 +BMGC_DS19529,BMG_DS075758,MeSH ID:D059350 | Chronic Pain | Chronic Secondary Pain | UMLS ID:C5828595 +BMGC_DS19530,BMG_DS075765,"DOID:0070596 | UMLS ID:C5829558 | X-linked spermatogenic failure 5 | OMIM ID:301099 | SPERMATOGENIC FAILURE, X-LINKED, 5 | OMIM ID:312820 | spermatogenic failure, X-linked, 5 | MONDO:0859477" +BMGC_DS19531,BMG_DS075766,"OMIM ID:301101 | DOID:0070597 | spermatogenic failure, X-linked, 6 | SPERMATOGENIC FAILURE, X-LINKED, 6 | MONDO:0859478 | X-linked spermatogenic failure 6 | OMIM ID:300309 | UMLS ID:C5829562" +BMGC_DS19532,BMG_DS075767,"DOID:0070598 | OMIM ID:301105 | spermatogenic failure, X-linked, 7 | MONDO:0957202 | SPERMATOGENIC FAILURE, X-LINKED, 7 | UMLS ID:C5829567 | OMIM ID:301106 | X-linked spermatogenic failure 7" +BMGC_DS19533,BMG_DS075768,"UMLS ID:C5829568 | intellectual developmental disorder, X-linked 111 | MONDO:0957203 | OMIM ID:301107" +BMGC_DS19534,BMG_DS075769,"OMIM ID:301108 | UMLS ID:C5829571 | MONDO:0958178 | OMIM ID:300126 | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1" +BMGC_DS19535,BMG_DS075770,"OMIM ID:300681 | AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED | MONDO:0957494 | OMIM ID:301109 | autoinflammatory disease, multisystem, with immune dysregulation, X-linked | UMLS ID:C5829577" +BMGC_DS19536,BMG_DS075771,"hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature | MONDO:0957495 | UMLS ID:C5829585 | OMIM ID:301110 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE | OMIM ID:300611" +BMGC_DS19537,BMG_DS075772,"UMLS ID:C5829589 | OMIM ID:301111 | MONDO:0957496 | intellectual developmental disorder, X-linked 112 | OMIM ID:300061 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112" +BMGC_DS19538,BMG_DS075773,OMIM ID:608415 | prolonged electroretinal response suppression 1 | MONDO:0958180 | UMLS ID:C5829874 +BMGC_DS19539,BMG_DS075774,"congenital myopathy 4B, autosomal recessive | OMIM ID:191030 | OMIM ID:609284 | MONDO:0012239 | CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE | UMLS ID:C5829889" +BMGC_DS19540,BMG_DS075775,CONE-ROD DYSTROPHY 23 | OMIM ID:613428 | OMIM ID:613425 | UMLS ID:C5829987 +BMGC_DS19541,BMG_DS075776,"OMIM ID:609502 | MACULAR DYSTROPHY, RETINAL, 5 | DOID:0111021 | OMIM ID:613660 | UMLS ID:C5829994 | cone-rod dystrophy 15" +BMGC_DS19542,BMG_DS075777,"hypertrophic cardiomyopathy 26 | UMLS ID:C5830134 | OMIM ID:617047 | CARDIOMYOPATHY, DILATED, 1PP | DOID:0110327" +BMGC_DS19543,BMG_DS075778,ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 15 | hypertrophic cardiomyopathy 26 | UMLS ID:C5830135 | OMIM ID:617047 | DOID:0110327 +BMGC_DS19544,BMG_DS075780,"neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | OMIM ID:620224 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES | UMLS ID:C5830244 | OMIM ID:608961 | MONDO:0859365" +BMGC_DS19545,BMG_DS075781,"intellectual developmental disorder, autosomal recessive 78 | OMIM ID:620237 | MONDO:0859373 | UMLS ID:C5830269" +BMGC_DS19546,BMG_DS075782,"DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES | OMIM ID:602580 | MONDO:0859375 | UMLS ID:C5830270 | OMIM ID:620240 | developmental delay with hypotonia, myopathy, and brain abnormalities" +BMGC_DS19547,BMG_DS075783,"MONDO:0859376 | OMIM ID:620241 | UMLS ID:C5830272 | hydrocephalus, congenital, 5, susceptibility to" +BMGC_DS19548,BMG_DS075784,OMIM ID:609126 | NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES | OMIM ID:620242 | UMLS ID:C5830273 | DOID:0081444 | MONDO:0859377 | neurodevelopmental disorder with poor growth and behavioral abnormalities +BMGC_DS19549,BMG_DS075785,"LEUKODYSTROPHY, HYPOMYELINATING, 25 | UMLS ID:C5830275 | hypomyelinating leukodystrophy 25 | DOID:0070401 | MONDO:0859378 | leukodystrophy, hypomyelinating, 25 | OMIM ID:620243 | OMIM ID:618978" +BMGC_DS19550,BMG_DS075786,MONDO:0859379 | LYMPHATIC MALFORMATION 13 | OMIM ID:620244 | UMLS ID:C5830279 | OMIM ID:616821 | lymphatic malformation 13 +BMGC_DS19551,BMG_DS075787,OMIM ID:620108 | OMIM ID:620245 | episodic kinesigenic dyskinesia 3 | MONDO:0859380 | EPISODIC KINESIGENIC DYSKINESIA 3 | DOID:0060944 | UMLS ID:C5830280 +BMGC_DS19552,BMG_DS075788,congenital myopathy 18 | MONDO:0859514 | OMIM ID:620246 | DOID:0081350 | UMLS ID:C5830283 | CONGENITAL MYOPATHY 18 +BMGC_DS19553,BMG_DS075789,"OMIM ID:620247 | CARDIOMYOPATHY, DILATED, 1OO | cardiomyopathy, dilated, 100 | MONDO:0859381 | UMLS ID:C5830291" +BMGC_DS19554,BMG_DS075790,"OMIM ID:620250 | neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | MONDO:0859516 | UMLS ID:C5830296 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM" +BMGC_DS19555,BMG_DS075791,MONDO:0859382 | CATARACT 50 WITH OR WITHOUT GLAUCOMA | OMIM ID:608961 | OMIM ID:620253 | UMLS ID:C5830299 | cataract 50 with or without glaucoma +BMGC_DS19556,BMG_DS075792,"OMIM ID:102610 | congenital myopathy 2b, severe infantile, autosomal recessive | DOID:0081339 | CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE | congenital myopathy 2B | UMLS ID:C5830300 | OMIM ID:620265 | MONDO:0859517" +BMGC_DS19557,BMG_DS075793,"OMIM ID:620269 | UMLS ID:C5830312 | LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA | leukodystrophy, hypomyelinating, 26, with chondrodysplasia | DOID:0070403 | MONDO:0859518 | hypomyelinating leukodystrophy 26 | OMIM ID:610788" +BMGC_DS19558,BMG_DS075794,neurodevelopmental disorder with absent speech and movement and behavioral abnormalities | MONDO:0859519 | UMLS ID:C5830319 | OMIM ID:620270 +BMGC_DS19559,BMG_DS075795,"UMLS ID:C5830322 | OMIM ID:603648 | OMIM ID:620275 | MONDO:0859520 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 | mitochondrial complex IV deficiency nuclear type 23 | DOID:0070485 | mitochondrial complex IV deficiency, nuclear type 23" +BMGC_DS19560,BMG_DS075796,MONDO:0859521 | UMLS ID:C5830326 | OMIM ID:620276 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14 | oocyte maturation defect 14 | OMIM ID:603618 +BMGC_DS19561,BMG_DS075797,OMIM ID:612683 | OMIM ID:620277 | UMLS ID:C5830329 | SPERMATOGENIC FAILURE 81 | spermatogenic failure 81 | MONDO:0859522 | DOID:0070580 +BMGC_DS19562,BMG_DS075798,"OMIM ID:102610 | congenital myopathy 2c, severe infantile, autosomal dominant | MONDO:0859523 | DOID:0081340 | OMIM ID:620278 | congenital myopathy 2C | CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT | UMLS ID:C5830333" +BMGC_DS19563,BMG_DS075799,"DOID:0070610 | hearing loss, autosomal dominant 86 | DEAFNESS, AUTOSOMAL DOMINANT 86 | OMIM ID:620280 | UMLS ID:C5830340 | autosomal dominant nonsyndromic deafness 86 | MONDO:0859524 | OMIM ID:606930" +BMGC_DS19564,BMG_DS075800,"autosomal dominant nonsyndromic deafness 87 | DEAFNESS, AUTOSOMAL DOMINANT 87 | OMIM ID:602758 | DOID:0070606 | hearing loss, autosomal dominant 87 | UMLS ID:C5830342 | MONDO:0859525 | OMIM ID:620281" +BMGC_DS19565,BMG_DS075801,OMIM ID:620282 | UMLS ID:C5830346 | OMIM ID:602250 | immunodeficiency 109 with lymphoproliferation | IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION | MONDO:0859526 +BMGC_DS19566,BMG_DS075802,"DEAFNESS, AUTOSOMAL DOMINANT 88 | UMLS ID:C5830355 | OMIM ID:620283 | hearing loss, autosomal dominant 88 | MONDO:0859527 | OMIM ID:611123 | DOID:0070611 | autosomal dominant nonsyndromic deafness 88" +BMGC_DS19567,BMG_DS075803,"MONDO:0859528 | OMIM ID:601461 | autosomal dominant nonsyndromic deafness 89 | DOID:0070612 | OMIM ID:620284 | DEAFNESS, AUTOSOMAL DOMINANT 89 | UMLS ID:C5830357 | hearing loss, autosomal dominant 89" +BMGC_DS19568,BMG_DS075804,"AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE | amyotrophic lateral sclerosis 27, juvenile | MONDO:0859529 | juvenile amyotrophic lateral sclerosis type 27 | UMLS ID:C5830359 | OMIM ID:620285 | DOID:0081381 | OMIM ID:605712" +BMGC_DS19569,BMG_DS075805,"OMIM ID:160000 | MYOPATHY, SARCOPLASMIC BODY | OMIM ID:620286 | myopathy, sarcoplasmic body | UMLS ID:C5830362 | MONDO:0859530" +BMGC_DS19570,BMG_DS075806,"MONDO:0859531 | OMIM ID:606228 | UMLS ID:C5830365 | OMIM ID:620292 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures" +BMGC_DS19571,BMG_DS075807,"MONDO:0859532 | congenital heart defects, multiple types, 9 | UMLS ID:C5830367 | OMIM ID:620294" +BMGC_DS19572,BMG_DS075808,AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS | OMIM ID:142370 | autoinflammation with pulmonary and cutaneous vasculitis | OMIM ID:620296 | UMLS ID:C5830371 | MONDO:0957204 +BMGC_DS19573,BMG_DS075809,OMIM ID:143450 | MONDO:0958185 | MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 | mitochondrial trifunctional protein deficiency 2 | DOID:0060999 | UMLS ID:C5830374 | OMIM ID:620300 +BMGC_DS19574,BMG_DS075810,"MONDO:0957208 | pituitary hormone deficiency, combined or isolated, 8 | OMIM ID:620303 | combined or isolated pituitary hormone deficiency 8 | DOID:0061018 | UMLS ID:C5830375 | PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8" +BMGC_DS19575,BMG_DS075811,NEUROOCULORENAL SYNDROME | neurooculorenal syndrome | OMIM ID:620305 | OMIM ID:602430 | MONDO:0957210 | UMLS ID:C5830377 +BMGC_DS19576,BMG_DS075812,UMLS ID:C5830385 | OMIM ID:603085 | MONDO:0957211 | neurodegeneration and seizures due to copper transport defect | NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT | OMIM ID:620306 +BMGC_DS19577,BMG_DS075813,MONDO:0957215 | congenital myopathy 20 | UMLS ID:C5830393 | OMIM ID:180903 | DOID:0081352 | OMIM ID:620310 | CONGENITAL MYOPATHY 20 +BMGC_DS19578,BMG_DS075814,MONDO:0957216 | premature ovarian failure 21 | OMIM ID:620311 | UMLS ID:C5830399 | OMIM ID:603273 | PREMATURE OVARIAN FAILURE 21 +BMGC_DS19579,BMG_DS075815,DOID:0070373 | UMLS ID:C5830404 | OMIM ID:606454 | OMIM ID:620312 | leukoencephalopathy with vanishing white matter 2 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 | MONDO:0957870 +BMGC_DS19580,BMG_DS075816,MONDO:0957871 | leukoencephalopathy with vanishing white matter 3 | UMLS ID:C5830405 | OMIM ID:620313 | DOID:0070372 | OMIM ID:606273 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 +BMGC_DS19581,BMG_DS075817,MONDO:0957872 | OMIM ID:620314 | DOID:0070371 | OMIM ID:606687 | leukoencephalopathy with vanishing white matter 4 | UMLS ID:C5830406 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 +BMGC_DS19582,BMG_DS075818,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 | OMIM ID:620316 | cortical dysplasia, complex, with other brain malformations 12 | OMIM ID:613774 | UMLS ID:C5830407 | MONDO:0957217" +BMGC_DS19583,BMG_DS075819,"OMIM ID:191050 | UMLS ID:C5830413 | neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | MONDO:0957218 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES | OMIM ID:620317" +BMGC_DS19584,BMG_DS075820,UMLS ID:C5830418 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17 | OMIM ID:614107 | MONDO:0957220 | oocyte/zygote/embryo maturation arrest 17 | OMIM ID:620319 +BMGC_DS19585,BMG_DS075821,"HEMATURIA, BENIGN FAMILIAL, 2 | OMIM ID:620320 | hematuria, benign familial, 2 | UMLS ID:C5830421 | OMIM ID:120070 | MONDO:0958186" +BMGC_DS19586,BMG_DS075822,C1q DEFICIENCY 2 | UMLS ID:C5830422 | C1Q deficiency 2 | MONDO:0958187 | OMIM ID:620321 +BMGC_DS19587,BMG_DS075823,OMIM ID:620322 | C1q DEFICIENCY 3 | UMLS ID:C5830423 | C1Q deficiency 3 | MONDO:0958188 +BMGC_DS19588,BMG_DS075824,UMLS ID:C5830424 | congenital myopathy 21 | DOID:0081353 | OMIM ID:611327 | OMIM ID:620326 | MONDO:0957224 | CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE | congenital myopathy 21 with early respiratory failure +BMGC_DS19589,BMG_DS075825,"NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES | MONDO:0957225 | UMLS ID:C5830433 | OMIM ID:620327 | OMIM ID:612383 | neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities" +BMGC_DS19590,BMG_DS075826,"OMIM ID:620330 | intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | MONDO:0957228 | UMLS ID:C5830437" +BMGC_DS19591,BMG_DS075827,OMIM ID:608258 | hatipoglu immunodeficiency syndrome | HATIPOGLU IMMUNODEFICIENCY SYNDROME | OMIM ID:620331 | UMLS ID:C5830439 | MONDO:0957229 +BMGC_DS19592,BMG_DS075828,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 18 | MONDO:0957230 | OMIM ID:609364 | oocyte/zygote/embryo maturation arrest 18 | UMLS ID:C5830441 | OMIM ID:620332 +BMGC_DS19593,BMG_DS075829,oocyte/zygote/embryo maturation arrest 19 | OMIM ID:609658 | MONDO:0957231 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19 | UMLS ID:C5830442 | OMIM ID:620333 +BMGC_DS19594,BMG_DS075830,OMIM ID:620342 | UMLS ID:C5830446 | CONE-ROD DYSTROPHY 24 | cone-rod dystrophy 24 | MONDO:0957240 | DOID:0081449 | OMIM ID:604011 +BMGC_DS19595,BMG_DS075831,UMLS ID:C5830451 | OMIM ID:620343 | MONDO:0958189 | basal cell nevus syndrome 2 +BMGC_DS19596,BMG_DS075832,prolonged electroretinal response suppression 2 | UMLS ID:C5830452 | OMIM ID:620344 | MONDO:0958190 +BMGC_DS19597,BMG_DS075833,"UMLS ID:C5830453 | congenital myopathy 22A, classic | DOID:0081354 | congenital myopathy 22A | MONDO:0957247 | OMIM ID:603967 | OMIM ID:620351 | CONGENITAL MYOPATHY 22A, CLASSIC" +BMGC_DS19598,BMG_DS075834,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B | DOID:0070376 | UMLS ID:C5830459 | developmental and epileptic encephalopathy, 31B | OMIM ID:620352 | MONDO:0957248 | OMIM ID:602377 | developmental and epileptic encephalopathy 31B" +BMGC_DS19599,BMG_DS075835,spermatogenic failure 82 | OMIM ID:620353 | OMIM ID:604689 | UMLS ID:C5830468 | DOID:0070581 | MONDO:0957249 | SPERMATOGENIC FAILURE 82 +BMGC_DS19600,BMG_DS075836,DOID:0070582 | OMIM ID:620354 | UMLS ID:C5830470 | spermatogenic failure 83 | MONDO:0957250 | OMIM ID:602135 | SPERMATOGENIC FAILURE 83 +BMGC_DS19601,BMG_DS075837,"OMIM ID:610061 | UMLS ID:C5830473 | CILIARY DYSKINESIA, PRIMARY, 50 | MONDO:0957252 | ciliary dyskinesia, primary, 50 | OMIM ID:620356" +BMGC_DS19602,BMG_DS075838,diarrhea 13 | UMLS ID:C5830477 | OMIM ID:620357 | DIARRHEA 13 | MONDO:0957253 | OMIM ID:605677 +BMGC_DS19603,BMG_DS075839,"mitochondrial complex V (ATP synthase) deficiency nuclear type 4A | MONDO:0957254 | mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | DOID:0070461 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A | OMIM ID:164360 | OMIM ID:620358 | UMLS ID:C5830480" +BMGC_DS19604,BMG_DS075840,"MONDO:0957255 | UMLS ID:C5830482 | OMIM ID:620359 | DOID:0070464 | OMIM ID:600828 | mitochondrial complex V (ATP synthase) deficiency nuclear type 7 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 | mitochondrial complex V (ATP synthase) deficiency, nuclear type 7" +BMGC_DS19605,BMG_DS075841,MONDO:0957260 | OMIM ID:620364 | UMLS ID:C5830484 | combined low LDL and fibrinogen +BMGC_DS19606,BMG_DS075842,"OMIM ID:617868 | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | MONDO:0957261 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 | UMLS ID:C5830485 | OMIM ID:620365" +BMGC_DS19607,BMG_DS075843,"MONDO:0957262 | OMIM ID:109280 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 | osteopetrosis, autosomal recessive 9 | UMLS ID:C5830487 | OMIM ID:620366" +BMGC_DS19608,BMG_DS075844,"OMIM ID:606478 | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 | UMLS ID:C5830496 | OMIM ID:620367 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 | MONDO:0957263" +BMGC_DS19609,BMG_DS075845,OMIM ID:606478 | UMLS ID:C5830497 | MONDO:0957264 | CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 | cerebroretinal microangiopathy with calcifications and cysts 3 | OMIM ID:620368 +BMGC_DS19610,BMG_DS075846,"CONGENITAL MYOPATHY 22B, SEVERE FETAL | DOID:0081355 | congenital myopathy 22B, severe fetal | MONDO:0957265 | OMIM ID:620369 | congenital myopathy 22B | OMIM ID:603967 | UMLS ID:C5830501" +BMGC_DS19611,BMG_DS075847,RECON PROGEROID SYNDROME | MONDO:0957266 | RECON progeroid syndrome | UMLS ID:C5830504 | OMIM ID:600537 | OMIM ID:620370 +BMGC_DS19612,BMG_DS075848,"UMLS ID:C5830509 | neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | OMIM ID:620371 | MONDO:0957267 | OMIM ID:614281 | NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY" +BMGC_DS19613,BMG_DS075849,UMLS ID:C5830511 | HYPERSULFATURIA | MONDO:0957268 | OMIM ID:610130 | hypersulfaturia | OMIM ID:620372 +BMGC_DS19614,BMG_DS075850,"nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis | UMLS ID:C5830516 | MONDO:0958191 | NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS | OMIM ID:620374" +BMGC_DS19615,BMG_DS075851,"MONDO:0957270 | UMLS ID:C5830518 | OMIM ID:620375 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 | OMIM ID:142910 | muscular dystrophy, limb-girdle, autosomal recessive 28" +BMGC_DS19616,BMG_DS075852,"AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS | autoinflammatory disease, systemic, with vasculitis | UMLS ID:C5830525 | OMIM ID:620376 | OMIM ID:165120 | MONDO:0957271" +BMGC_DS19617,BMG_DS075853,"OMIM ID:603243 | hereditary spastic paraplegia 89 | SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE | OMIM ID:620379 | MONDO:0957274 | spastic paraplegia 89, autosomal recessive | DOID:0070458 | UMLS ID:C5830531" +BMGC_DS19618,BMG_DS075854,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20 | OMIM ID:620383 | oocyte/zygote/embryo maturation arrest 20 | MONDO:0957278 | OMIM ID:190060 | UMLS ID:C5830539 +BMGC_DS19619,BMG_DS075855,"OMIM ID:620384 | AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2 | UMLS ID:C5830542 | auditory neuropathy, autosomal dominant 2 | MONDO:0957279 | OMIM ID:605868" +BMGC_DS19620,BMG_DS075856,"NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET | OMIM ID:620386 | MONDO:0957281 | DOID:0081374 | nemaline myopathy 5B | nemaline myopathy 5B, autosomal recessive, childhood-onset | UMLS ID:C5830545 | OMIM ID:191041" +BMGC_DS19621,BMG_DS075857,"nemaline myopathy 5C | NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT | OMIM ID:620389 | DOID:0081375 | nemaline myopathy 5C, autosomal dominant | MONDO:0957284 | OMIM ID:191041 | UMLS ID:C5830549" +BMGC_DS19622,BMG_DS075858,"MONDO:0957288 | OMIM ID:620393 | intellectual developmental disorder, autosomal recessive 79 | UMLS ID:C5830553 | OMIM ID:189940 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79" +BMGC_DS19623,BMG_DS075859,OMIM ID:238310 | UMLS ID:C5830559 | GLYCINE ENCEPHALOPATHY 2 | DOID:0061001 | glycine encephalopathy 2 | MONDO:0958192 | OMIM ID:620398 +BMGC_DS19624,BMG_DS075860,"pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 | UMLS ID:C5830560 | OMIM ID:620400 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9 | MONDO:0957294 | OMIM ID:606471" +BMGC_DS19625,BMG_DS075861,OMIM ID:620381 | UMLS ID:C5830562 | SPERMATOGENIC FAILURE 84 | MONDO:0957301 | DOID:0070583 | OMIM ID:620409 | spermatogenic failure 84 +BMGC_DS19626,BMG_DS075862,"OMIM ID:613540 | DOID:0070459 | hereditary spastic paraplegia 90A | OMIM ID:620416 | UMLS ID:C5830574 | spastic paraplegia 90A, autosomal dominant | MONDO:0957308 | SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT" +BMGC_DS19627,BMG_DS075863,"spastic paraplegia 90B, autosomal recessive | OMIM ID:613540 | hereditary spastic paraplegia 90B | SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE | UMLS ID:C5830578 | OMIM ID:620417 | DOID:0070460 | MONDO:0957309" +BMGC_DS19628,BMG_DS075864,OMIM ID:620422 | retinitis pigmentosa 97 | MONDO:0957314 | RETINITIS PIGMENTOSA 97 | OMIM ID:617509 | UMLS ID:C5830579 +BMGC_DS19629,BMG_DS075865,MONDO:0957382 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 | OMIM ID:620423 | multiple mitochondrial dysfunctions syndrome 7 | OMIM ID:238330 | UMLS ID:C5830586 +BMGC_DS19630,BMG_DS075866,"cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 | MONDO:0958193 | UMLS ID:C5830590 | CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 | OMIM ID:620425 | OMIM ID:606471" +BMGC_DS19631,BMG_DS075867,"MONDO:0957385 | DOID:0060956 | dystonia 37, early-onset with striatal lesions | DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS | dystonia 37, early-onset, with striatal lesions | OMIM ID:607607 | UMLS ID:C5830592 | OMIM ID:620427" +BMGC_DS19632,BMG_DS075868,"OMIM ID:611354 | UMLS ID:C5830596 | DOID:0081387 | NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | OMIM ID:620428 | MONDO:0957386" +BMGC_DS19633,BMG_DS075869,"autoimmune disease, multisystem, infantile-onset, 3 | UMLS ID:C5830600 | MONDO:0957388 | OMIM ID:620430 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 | OMIM ID:604491" +BMGC_DS19634,BMG_DS075870,"CILIARY DYSKINESIA, PRIMARY, 51 | OMIM ID:620438 | OMIM ID:617824 | MONDO:0957396 | UMLS ID:C5830608 | ciliary dyskinesia, primary, 51" +BMGC_DS19635,BMG_DS075871,"UMLS ID:C5830612 | MONDO:0957397 | intellectual developmental disorder, autosomal dominant 72 | OMIM ID:620439" +BMGC_DS19636,BMG_DS075872,"MONDO:0957530 | breast-ovarian cancer, familial, susceptibility to, 5 | OMIM ID:620442 | UMLS ID:C5830615" +BMGC_DS19637,BMG_DS075873,OMIM ID:620445 | UMLS ID:C5830624 | MONDO:0957531 | neurodevelopmental disorder with microcephaly and movement abnormalities | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES | OMIM ID:614425 +BMGC_DS19638,BMG_DS075874,megalencephalic leukoencephalopathy with subcortical cysts 3 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 | OMIM ID:620447 | UMLS ID:C5830625 | MONDO:0957533 | OMIM ID:605948 +BMGC_DS19639,BMG_DS075875,"MONDO:0957534 | OMIM ID:600308 | OMIM ID:620448 | UMLS ID:C5830628 | megalencephalic leukoencephalopathy with subcortical cysts 4, remitting | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING" +BMGC_DS19640,BMG_DS075876,MONDO:0957535 | IMMUNODEFICIENCY 112 | OMIM ID:604655 | OMIM ID:620449 | UMLS ID:C5830633 | immunodeficiency 112 +BMGC_DS19641,BMG_DS075877,"intellectual developmental disorder, autosomal dominant 73 | UMLS ID:C5830636 | MONDO:0957536 | OMIM ID:620450" +BMGC_DS19642,BMG_DS075878,OMIM ID:616422 | OMIM ID:620451 | UMLS ID:C5830641 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 | MONDO:0957537 | combined oxidative phosphorylation deficiency 58 +BMGC_DS19643,BMG_DS075879,amyotrophic lateral sclerosis 28 | UMLS ID:C5830642 | DOID:0081382 | OMIM ID:618299 | OMIM ID:620452 | amyotrophic lateral sclerosis type 28 | AMYOTROPHIC LATERAL SCLEROSIS 28 | MONDO:0957538 +BMGC_DS19644,BMG_DS075880,"UMLS ID:C5830645 | dystonia 22, juvenile-onset | MONDO:0957539 | DOID:0060966 | OMIM ID:620453 | DYSTONIA 22, JUVENILE-ONSET | OMIM ID:610764" +BMGC_DS19645,BMG_DS075881,"MONDO:0957540 | congenital disorder of glycosylation, type IIaa | OMIM ID:620454 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa | UMLS ID:C5830651" +BMGC_DS19646,BMG_DS075882,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES | DOID:0070512 | OMIM ID:620455 | MONDO:0957541 | neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | neurodevelopmental disorder with hypotonia and speech delay | UMLS ID:C5830654" +BMGC_DS19647,BMG_DS075883,"UMLS ID:C5830658 | MONDO:0957542 | dystonia 22, adult-onset | DOID:0060967 | DYSTONIA 22, ADULT-ONSET | OMIM ID:620456 | OMIM ID:610764" +BMGC_DS19648,BMG_DS075884,auriculocondylar syndrome 4 | OMIM ID:620457 | AURICULOCONDYLAR SYNDROME 4 | UMLS ID:C5830659 | MONDO:0957543 | OMIM ID:606543 +BMGC_DS19649,BMG_DS075885,OMIM ID:600810 | MONDO:0957544 | auriculocondylar syndrome 2B | AURICULOCONDYLAR SYNDROME 2B | OMIM ID:620458 | UMLS ID:C5830664 +BMGC_DS19650,BMG_DS075886,OMIM ID:620459 | Birt-Hogg-Dube syndrome 2 | BIRT-HOGG-DUBE SYNDROME 2 | MONDO:0800455 | OMIM ID:618319 | UMLS ID:C5830676 +BMGC_DS19651,BMG_DS075887,OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 | UMLS ID:C5830682 | OMIM ID:620460 | oculopharyngeal muscular dystrophy 2 | OMIM ID:600124 | MONDO:0958195 +BMGC_DS19652,BMG_DS075888,"CARDIOMYOPATHY, DILATED, 2I | cardiomyopathy, dilated, 2I | UMLS ID:C5830685 | MONDO:0957545 | OMIM ID:618385 | OMIM ID:620462" +BMGC_DS19653,BMG_DS075890,"hypertrophic cardiomyopathy 26 | OMIM ID:102565 | UMLS ID:C5830688 | OMIM ID:617047 | DOID:0110327 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 15" +BMGC_DS19654,BMG_DS075894,OMIM ID:143450 | mitochondrial trifunctional protein deficiency 2 | MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY | DOID:0060999 | OMIM ID:620300 | UMLS ID:C5830693 +BMGC_DS19655,BMG_DS075898,central core myopathy | OMIM ID:117000 | MONDO:0007294 | UMLS ID:C5830701 +BMGC_DS19656,BMG_DS075901,MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY | UMLS ID:C5830705 | OMIM ID:600890 | OMIM ID:609015 | mitochondrial trifunctional protein deficiency 1 | DOID:0070619 +BMGC_DS19657,BMG_DS075960,Popliteal web syndrome | Autosomal dominant popliteal pterygium syndrome | autosomal dominant popliteal pterygium syndrome | SNOMEDCT ID:718222000 | Facio-genito-popliteal syndrome | UMLS ID:C5848052 | Autosomal dominant popliteal pterygium syndrome (disorder) | OMIM ID:119500 | MONDO:0007334 +BMGC_DS19658,BMG_DS075964,"OMIM ID:604580 | UMLS ID:C5848058 | OMIM ID:219100 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA | cutis laxa, autosomal recessive, type 1A | MONDO:0009052" +BMGC_DS19659,BMG_DS075985,SNOMEDCT ID:124275001 | UMLS ID:C5848153 | Deficiency of hypoxanthine-guanine phosphoribosyltransferase | MONDO:0016088 | Deficiency of IMP pyrophosphorylase | Deficiency of guanine phosphoribosyltransferase | Deficiency of hypoxanthine phosphoribosyltransferase (disorder) | Deficiency of hypoxanthine phosphoribosyltransferase | hypoxanthine-guanine phosphoribosyltransferase deficiency +BMGC_DS19660,BMG_DS075988,SNOMEDCT ID:421527008 | UMLS ID:C5848173 | Activated protein C resistance | Resistance to activated protein C due to factor V Leiden mutation (disorder) | Resistance to activated protein C due to factor V Leiden mutation | Resistance to activated protein C caused by factor V R506Q mutation +BMGC_DS19661,BMG_DS075991,OMIM ID:607566 | UMLS ID:C5848203 | MYOCLONIC EPILEPSY OF LAFORA 1 | myoclonic epilepsy of Lafora 1 | MONDO:0958199 | OMIM ID:254780 +BMGC_DS19662,BMG_DS075996,SNOMEDCT ID:205550003 | MONDO:0017778 | lamellar ichthyosis | Collodion baby | UMLS ID:C5848247 | Lamellar ichthyosis (disorder) | Lamellar ichthyosis +BMGC_DS19663,BMG_DS075998,"Secondary polycythemia | Secondary polycythaemia (disorder) | ICD10 ID:D75.1 | ICD11 ID:3A81.Z | Acquired polycythaemia, unspecified | SNOMEDCT ID:154835002 | UMLS ID:C5848252 | familial erythrocytosis 2 | DOID:0060474 | Secondary polycythaemia" +BMGC_DS19664,BMG_DS075999,Hemophilia B Leyden (disorder) | Factor 9 deficiency Leyden type | Hemophilia B Leyden | MONDO:0850054 | UMLS ID:C5848256 | Hemophilia B | MeSH ID:D002836 | SNOMEDCT ID:1336117005 | Factor IX deficiency Leyden type | hemophilia B leyden | Haemophilia B Leyden +BMGC_DS19665,BMG_DS076000,ICD10 ID:E27.1 | Acquired adrenocortical insufficiency | Primary adrenocortical insufficiency | UMLS ID:C5848257 | ICD11 ID:5A74.0 | Primary adrenocortical insufficiency (disorder) | SNOMEDCT ID:373662000 | Primary hypoadrenalism +BMGC_DS19666,BMG_DS076002,"spinal muscular atrophy, type 1 | MONDO:0009669 | OMIM ID:253300 | Spinal Muscular Atrophies of Childhood | MeSH ID:D014897 | Spinal Muscular Atrophy, Infantile | UMLS ID:C5848259" +BMGC_DS19667,BMG_DS076004,UMLS ID:C5848261 | Hearing Disorders | MeSH ID:D006311 +BMGC_DS19668,BMG_DS076011,porphyria | Porphyria (disorder) | SNOMEDCT ID:274090006 | SNOMEDCT ID:154768004 | MONDO:0037939 | UMLS ID:C5848305 | Porphyria | SNOMEDCT ID:418470004 +BMGC_DS19669,BMG_DS076012,MeSH ID:D011164 | UMLS ID:C5848306 | Porphyrias +BMGC_DS19670,BMG_DS076015,MONDO:0011823 | OMIM ID:607371 | developmental malformations-deafness-dystonia syndrome | OMIM ID:102630 | UMLS ID:C5848323 | DYSTONIA-DEAFNESS SYNDROME 1 +BMGC_DS19671,BMG_DS076020,Myotonia permanens (disorder) | UMLS ID:C5848361 | MeSH ID:C538353 | MONDO:0020482 | Myotonia permanens | ICD10 ID:G71.19 | SNOMEDCT ID:715789009 | myotonia permanens +BMGC_DS19672,BMG_DS076029,"IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION | MONDO:0957790 | OMIM ID:172420 | immune dysregulation, autoimmunity, and autoinflammation | OMIM ID:620514 | UMLS ID:C5848750" +BMGC_DS19673,BMG_DS076030,"BECKER NEVUS, ISOLATED | OMIM ID:604919 | UMLS ID:C5848751" +BMGC_DS19674,BMG_DS076031,"hyper-IgE syndrome 6, autosomal dominant, with recurrent infections | MONDO:0957807 | OMIM ID:601512 | OMIM ID:620532 | UMLS ID:C5848786 | HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS" +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,DOID:0070625 | UMLS ID:C5855485 | B-lymphoblastic leukemia with NUTM1 rearrangement +BMGC_DS19679,BMG_DS076081,UMLS ID:C5855502 | B-lymphoblastic leukemia with PAX5alt | DOID:0070626 +BMGC_DS19680,BMG_DS076082,DOID:0070631 | UMLS ID:C5856227 | acute myeloid leukemia with FUS-ERG fusion +BMGC_DS19681,BMG_DS076083,DOID:0070633 | UMLS ID:C5856228 | acute myeloid leukemia with NPM1-MLF1 fusion +BMGC_DS19682,BMG_DS076084,UMLS ID:C5856321 | DOID:0070627 | B-lymphoblastic leukemia with TCF3-HLF fusion +BMGC_DS19683,BMG_DS076421,"MONDO:0007086 | OMIM ID:120070 | ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT | autosomal dominant Alport syndrome | OMIM ID:104200 | UMLS ID:C5882663 | DOID:0110032" +BMGC_DS19684,BMG_DS076422,Lui-Jee-Baron syndrome | OMIM ID:301114 | MONDO:0957919 | OMIM ID:301113 | UMLS ID:C5882664 | LUI-JEE-BARON SYNDROME +BMGC_DS19685,BMG_DS076423,OMIM ID:300587 | UMLS ID:C5882665 | OMIM ID:301115 | immunodeficiency 118 | IMMUNODEFICIENCY 118 | MONDO:0958030 +BMGC_DS19686,BMG_DS076424,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113 | MONDO:0958200 | intellectual developmental disorder, x-linked 113 | UMLS ID:C5882666 | OMIM ID:300907 | OMIM ID:301116" +BMGC_DS19687,BMG_DS076425,"OMIM ID:604498 | MONDO:0800452 | OMIM ID:159530 | UMLS ID:C5882667 | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 1 | congenital amegakaryocytic thrombocytopenia 1 | DOID:0061005" +BMGC_DS19688,BMG_DS076426,TUMOR PREDISPOSITION SYNDROME 4 | OMIM ID:609265 | UMLS ID:C5882668 | OMIM ID:604373 +BMGC_DS19689,BMG_DS076427,"hereditary spastic paraplegia 72 | OMIM ID:609347 | UMLS ID:C5882669 | SPASTIC PARAPLEGIA 72A, AUTOSOMAL DOMINANT | OMIM ID:615625 | MONDO:0014282" +BMGC_DS19690,BMG_DS076428,"early-onset epilepsy 2 | UMLS ID:C5882670 | MONDO:0030005 | EPILEPSY, EARLY-ONSET, 2, WITH OR WITHOUT DEVELOPMENTAL DELAY | DOID:0070471 | OMIM ID:618832 | epilepsy, early-onset, with or without developmental delay" +BMGC_DS19691,BMG_DS076429,"DOID:0081359 | epidermolytic hyperkeratosis 2A, autosomal dominant | epidermolytic hyperkeratosis 2 | MONDO:0700248 | EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT | OMIM ID:620150 | OMIM ID:148080 | UMLS ID:C5882671" +BMGC_DS19692,BMG_DS076430,"DOID:0081428 | autosomal recessive distal hereditary motor neuronopathy 9 | OMIM ID:620402 | OMIM ID:601683 | MONDO:0957874 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 | UMLS ID:C5882672 | neuronopathy, distal hereditary motor, autosomal recessive 9" +BMGC_DS19693,BMG_DS076431,"OMIM ID:620461 | UMLS ID:C5882673 | MONDO:0957561 | encephalitis, acute, infection-induced, susceptibility to, 12" +BMGC_DS19694,BMG_DS076432,"early-onset epilepsy 3 | MONDO:0958196 | DOID:0070472 | OMIM ID:620465 | epilepsy, early-onset, 3, with or without developmental delay | EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY | UMLS ID:C5882674" +BMGC_DS19695,BMG_DS076433,"OMIM ID:601726 | OMIM ID:620469 | cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay | UMLS ID:C5882675 | MONDO:0957563 | CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY" +BMGC_DS19696,BMG_DS076434,"MONDO:0957564 | congenital smooth muscle hamartoma, with or without hemihypertrophy | OMIM ID:620470 | UMLS ID:C5882676" +BMGC_DS19697,BMG_DS076435,"OMIM ID:102630 | THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY | OMIM ID:620475 | UMLS ID:C5882677" +BMGC_DS19698,BMG_DS076436,UMLS ID:C5882678 | THROMBOCYTOPENIA 9 | OMIM ID:620478 | MONDO:0957572 | thrombocytopenia 9 | OMIM ID:600044 +BMGC_DS19699,BMG_DS076437,"amegakaryocytic thrombocytopenia, congenital, 2 | MONDO:0957575 | DOID:0061002 | congenital amegakaryocytic thrombocytopenia 2 | AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 | OMIM ID:600044 | UMLS ID:C5882679 | OMIM ID:620481" +BMGC_DS19700,BMG_DS076438,"parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development | OMIM ID:620482 | DOID:0070486 | OMIM ID:600756 | MONDO:0957576 | PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | Parkinson's disease 25 | UMLS ID:C5882680" +BMGC_DS19701,BMG_DS076439,"OMIM ID:600923 | MONDO:0957577 | UMLS ID:C5882681 | OMIM ID:620483 | VARIEGATE PORPHYRIA, CHILDHOOD-ONSET | variegate porphyria, childhood-onset" +BMGC_DS19702,BMG_DS076440,OMIM ID:600925 | THROMBOCYTOPENIA 10 | thrombocytopenia 10 | OMIM ID:620484 | UMLS ID:C5882682 | MONDO:0957578 +BMGC_DS19703,BMG_DS076441,"bleeding disorder, platelet-type, 25 | OMIM ID:600317 | UMLS ID:C5882683 | BLEEDING DISORDER, PLATELET-TYPE, 25 | OMIM ID:620486 | MONDO:0957580" +BMGC_DS19704,BMG_DS076442,OMIM ID:620489 | neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | MONDO:0957583 | DOID:0070513 | OMIM ID:600812 | UMLS ID:C5882684 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES +BMGC_DS19705,BMG_DS076443,OMIM ID:612739 | UMLS ID:C5882685 | spermatogenic failure 85 | OMIM ID:620490 | DOID:0070584 | MONDO:0957584 | SPERMATOGENIC FAILURE 85 +BMGC_DS19706,BMG_DS076444,"NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES | MONDO:0957588 | OMIM ID:616472 | neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies | OMIM ID:620494 | UMLS ID:C5882686" +BMGC_DS19707,BMG_DS076445,SPERMATOGENIC FAILURE 87 | OMIM ID:102480 | MONDO:0957594 | OMIM ID:620500 | DOID:0070586 | spermatogenic failure 87 | UMLS ID:C5882687 +BMGC_DS19708,BMG_DS076446,OMIM ID:611149 | OMIM ID:620501 | ZIEGLER-HUANG SYNDROME | UMLS ID:C5882688 | MONDO:0957595 | Ziegler-Huang syndrome +BMGC_DS19709,BMG_DS076447,NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES | neurodevelopmental disorder with language delay and variable cognitive abnormalities | UMLS ID:C5882689 | OMIM ID:603540 | OMIM ID:620502 | MONDO:0957779 +BMGC_DS19710,BMG_DS076448,OMIM ID:614191 | developmental and epileptic encephalopathy 111 | MONDO:0957780 | OMIM ID:620504 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 | UMLS ID:C5882690 +BMGC_DS19711,BMG_DS076449,ICHTHYOSIS WITH ERYTHROKERATODERMA | MONDO:0957783 | OMIM ID:620507 | UMLS ID:C5882691 | ichthyosis with erythrokeratoderma | OMIM ID:604434 +BMGC_DS19712,BMG_DS076450,xerosis and growth failure with immune and pulmonary dysfunction syndrome | MONDO:0957786 | UMLS ID:C5882692 | OMIM ID:620510 | XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME +BMGC_DS19713,BMG_DS076451,Fliedner-Zweier syndrome | MONDO:0957787 | OMIM ID:616023 | OMIM ID:620511 | FLIEDNER-ZWEIER SYNDROME | UMLS ID:C5882693 +BMGC_DS19714,BMG_DS076452,"spastic paraplegia 18a, autosomal dominant | UMLS ID:C5882694 | MONDO:0957788 | OMIM ID:620512 | SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT | OMIM ID:611605" +BMGC_DS19715,BMG_DS076453,"NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION | neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction | MONDO:0957791 | OMIM ID:620515 | UMLS ID:C5882695 | OMIM ID:602777" +BMGC_DS19716,BMG_DS076454,OMIM ID:620519 | OMIM ID:607463 | UMLS ID:C5882696 | MONDO:0957795 | ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES | arrhythmogenic cardiomyopathy with variable ectodermal abnormalities +BMGC_DS19717,BMG_DS076455,"neuronopathy, distal hereditary motor, autosomal dominant 11 | OMIM ID:620528 | autosomal dominant distal hereditary motor neuronopathy 11 | UMLS ID:C5882697 | OMIM ID:182810 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 | MONDO:0957875 | DOID:0081400" +BMGC_DS19718,BMG_DS076456,"OMIM ID:620535 | MONDO:0957810 | OMIM ID:191318 | DOID:0060933 | developmental delay, dysmorphic facies, and brain anomalies | UMLS ID:C5882698 | DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES" +BMGC_DS19719,BMG_DS076457,"Alport syndrome 3b, autosomal recessive | UMLS ID:C5882699 | OMIM ID:620536 | ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE | OMIM ID:120070 | MONDO:0957811" +BMGC_DS19720,BMG_DS076458,UMLS ID:C5882700 | MONDO:0957812 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 | developmental and epileptic encephalopathy 112 | OMIM ID:620537 +BMGC_DS19721,BMG_DS076459,"OMIM ID:620538 | UMLS ID:C5882701 | MONDO:0957813 | SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA | spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | OMIM ID:182810" +BMGC_DS19722,BMG_DS076460,OMIM ID:620540 | developmental delay with or without epilepsy | MONDO:0957815 | UMLS ID:C5882702 | DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY +BMGC_DS19723,BMG_DS076461,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 | MONDO:0957876 | UMLS ID:C5882703 | neuronopathy, distal hereditary motor, autosomal recessive 10 | OMIM ID:602168 | DOID:0081429 | autosomal recessive distal hereditary motor neuronopathy 10 | OMIM ID:620542" +BMGC_DS19724,BMG_DS076462,"OMIM ID:607509 | UMLS ID:C5882704 | arthrogryposis, distal, type 12 | MONDO:0957819 | ARTHROGRYPOSIS, DISTAL, TYPE 12 | OMIM ID:620545" +BMGC_DS19725,BMG_DS076463,"congenital disorder of glycosylation, type IIbb | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb | OMIM ID:620546 | MONDO:0957820 | UMLS ID:C5882705 | OMIM ID:606975" +BMGC_DS19726,BMG_DS076464,spermatogenic failure 88 | SPERMATOGENIC FAILURE 88 | OMIM ID:618125 | UMLS ID:C5882706 | OMIM ID:620547 | DOID:0070587 | MONDO:0957821 +BMGC_DS19727,BMG_DS076465,PREMATURE OVARIAN FAILURE 22 | MONDO:0957822 | OMIM ID:618125 | premature ovarian failure 22 | OMIM ID:620548 | UMLS ID:C5882707 +BMGC_DS19728,BMG_DS076466,MONDO:0957824 | UMLS ID:C5882708 | OMIM ID:620550 | OMIM ID:615497 | OPTIC ATROPHY 14 | optic atrophy 14 +BMGC_DS19729,BMG_DS076467,"UMLS ID:C5882709 | DEAFNESS, AUTOSOMAL RECESSIVE 121 | MONDO:0957825 | OMIM ID:610464 | hearing loss, autosomal recessive 121 | OMIM ID:620551" +BMGC_DS19730,BMG_DS076468,craniometadiaphyseal osteosclerosis with hip dysplasia | CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA | MONDO:0957832 | UMLS ID:C5882710 | OMIM ID:603816 | OMIM ID:620558 +BMGC_DS19731,BMG_DS076469,IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION | OMIM ID:620565 | MONDO:0957920 | immunodeficiency 113 with autoimmunity and autoinflammation | OMIM ID:604227 | UMLS ID:C5882711 +BMGC_DS19732,BMG_DS076470,UMLS ID:C5882712 | OMIM ID:620568 | CORNELIA DE LANGE SYNDROME 6 | Cornelia de Lange syndrome 6 | MONDO:0957921 | OMIM ID:608749 | DOID:0060970 +BMGC_DS19733,BMG_DS076471,"LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 2 | Leber-like hereditary optic neuropathy, autosomal recessive 2 | OMIM ID:602985 | MONDO:0958197 | OMIM ID:620569 | UMLS ID:C5882713" +BMGC_DS19734,BMG_DS076472,"MONDO:0957922 | UMLS ID:C5882714 | CILIARY DYSKINESIA, PRIMARY, 52 | OMIM ID:620570 | ciliary dyskinesia, primary, 52" +BMGC_DS19735,BMG_DS076473,otosclerosis 11 | OMIM ID:603252 | MONDO:0957928 | UMLS ID:C5882715 | DOID:0060928 | OTOSCLEROSIS 11 | OMIM ID:620576 +BMGC_DS19736,BMG_DS076474,OMIM ID:614479 | OPTIC ATROPHY 15 | OMIM ID:620583 | MONDO:0957935 | UMLS ID:C5882716 | optic atrophy 15 +BMGC_DS19737,BMG_DS076475,OMIM ID:607980 | Garg-Mishra progeroid syndrome | UMLS ID:C5882717 | OMIM ID:620601 | MONDO:0957953 | GARG-MISHRA PROGEROID SYNDROME +BMGC_DS19738,BMG_DS076476,MONDO:0957954 | UMLS ID:C5882718 | lymphatic malformation 14 | OMIM ID:620602 +BMGC_DS19739,BMG_DS076477,"OMIM ID:620603 | UMLS ID:C5882719 | OMIM ID:600424 | MONDO:0957955 | IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE | immunodeficiency 114, folate-responsive" +BMGC_DS19740,BMG_DS076478,"OMIM ID:609347 | spastic paraplegia 72b, autosomal recessive | UMLS ID:C5882720 | MONDO:0957958 | OMIM ID:620606 | SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE" +BMGC_DS19741,BMG_DS076479,OMIM ID:620609 | OMIM ID:608267 | MONDO:0957960 | UMLS ID:C5882721 | Long-Olsen-Distelmaier syndrome | LONG-OLSEN-DISTELMAIER SYNDROME +BMGC_DS19742,BMG_DS076480,oocyte/zygote/embryo maturation arrest 21 | MONDO:0957961 | OMIM ID:620610 | OMIM ID:603078 | UMLS ID:C5882722 | OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21 +BMGC_DS19743,BMG_DS076481,UMLS ID:C5882723 | OMIM ID:620629 | OMIM ID:608205 | OPTIC ATROPHY 16 | MONDO:0957978 | optic atrophy 16 +BMGC_DS19744,BMG_DS076482,OMIM ID:620632 | OMIM ID:612487 | IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION | MONDO:0957981 | UMLS ID:C5882724 | immunodeficiency 115 with autoinflammation +BMGC_DS19745,BMG_DS076483,"OMIM ID:620635 | CARDIOMYOPATHY, DILATED, 2J | OMIM ID:600362 | cardiomyopathy, dilated, 2j | UMLS ID:C5882725 | MONDO:0957984" +BMGC_DS19746,BMG_DS076484,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE | OMIM ID:601178 | neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline | UMLS ID:C5882726 | MONDO:0957985 | OMIM ID:620636" +BMGC_DS19747,BMG_DS076485,OMIM ID:620641 | UMLS ID:C5882727 | MONDO:0957990 | OMIM ID:603952 | Tan-Almurshedi syndrome | TAN-ALMURSHEDI SYNDROME +BMGC_DS19748,BMG_DS076486,"MONDO:0957991 | CILIARY DYSKINESIA, PRIMARY, 53 | UMLS ID:C5882728 | ciliary dyskinesia, primary, 53 | OMIM ID:620642 | OMIM ID:619564" +BMGC_DS19749,BMG_DS076487,combined oxidative phosphorylation deficiency 59 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 | OMIM ID:620646 | UMLS ID:C5882730 | OMIM ID:611845 | MONDO:0957992 +BMGC_DS19750,BMG_DS076488,"OMIM ID:620647 | UMLS ID:C5882731 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | MONDO:0957993" +BMGC_DS19751,BMG_DS076489,"OMIM ID:620651 | OMIM ID:601916 | diabetes, deafness, developmental delay, and short stature syndrome | MONDO:0957997 | UMLS ID:C5882732 | DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME" +BMGC_DS19752,BMG_DS076490,"UMLS ID:C5882733 | OMIM ID:620653 | MONDO:0957999 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY | OMIM ID:600639 | intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly" +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:620654 | OMIM ID:179530 +BMGC_DS19754,BMG_DS076492,MONDO:0958001 | UMLS ID:C5882735 | OMIM ID:620655 | OMIM ID:179502 | Alfadhel syndrome | ALFADHEL SYNDROME +BMGC_DS19755,BMG_DS076493,Hoxha-Aliu syndrome | OMIM ID:608739 | HOXHA-ALIU SYNDROME | MONDO:0958005 | UMLS ID:C5882736 | OMIM ID:620662 +BMGC_DS19756,BMG_DS076494,"MONDO:0958006 | OMIM ID:620663 | OMIM ID:608739 | spondyloepimetaphyseal dysplasia, Guo-Campeau type | UMLS ID:C5882737 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE" +BMGC_DS19757,BMG_DS076495,"OMIM ID:612898 | spastic ataxia 10, autosomal recessive | OMIM ID:620666 | UMLS ID:C5882738 | SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE | MONDO:0958009" +BMGC_DS19758,BMG_DS076496,OMIM ID:147575 | UMLS ID:C5882739 | MONDO:0958011 | OMIM ID:620668 | IMMUNODEFICIENCY 117 | immunodeficiency 117 +BMGC_DS19759,BMG_DS076497,OMIM ID:134770 | MONDO:0958012 | UMLS ID:C5882740 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 | neurodegeneration with brain iron accumulation 9 | OMIM ID:620669 +BMGC_DS19760,BMG_DS076498,"UMLS ID:C5882741 | immunodeficiency, common variable, 15 | OMIM ID:609213 | OMIM ID:620670 | MONDO:0958013 | IMMUNODEFICIENCY, COMMON VARIABLE, 15" +BMGC_DS19761,BMG_DS076499,"OMIM ID:609213 | OMIM ID:620674 | NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT | neutropenia, severe congenital, 11, autosomal dominant | MONDO:0958017 | UMLS ID:C5882742" +BMGC_DS19762,BMG_DS076500,"OMIM ID:620675 | leukodystrophy, hypomyelinating, 27 | MONDO:0958018 | LEUKODYSTROPHY, HYPOMYELINATING, 27 | UMLS ID:C5882743 | OMIM ID:616404" +BMGC_DS19763,BMG_DS076501,"UMLS ID:C5882744 | OMIM ID:104210 | lipodystrophy, familial partial, type 8 | MONDO:0958022 | OMIM ID:620679 | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8" +BMGC_DS19764,BMG_DS076502,"OMIM ID:123695 | lipodystrophy, congenital generalized, type 5 | UMLS ID:C5882745 | OMIM ID:620680 | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 | MONDO:0958023" +BMGC_DS19765,BMG_DS076503,"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 | UMLS ID:C5882746 | lipodystrophy, familial partial, type 9 | OMIM ID:613867 | OMIM ID:620683 | MONDO:0958034" +BMGC_DS19766,BMG_DS076504,UMLS ID:C5882747 | PREMATURE OVARIAN FAILURE 23 | MONDO:0958035 | OMIM ID:620686 | OMIM ID:617670 | premature ovarian failure 23 +BMGC_DS19767,BMG_DS076505,OMIM ID:610108 | UMLS ID:C5882748 | MONDO:0958202 | moyamoya disease 7 | OMIM ID:620687 | MOYAMOYA DISEASE 7 +BMGC_DS19768,BMG_DS076506,"MONDO:0958203 | intellectual developmental disorder, autosomal dominant 74 | OMIM ID:164020 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 | OMIM ID:620688 | UMLS ID:C5882749" +BMGC_DS19769,BMG_DS076507,UMLS ID:C5882750 | OMIM ID:620690 | MONDO:0958037 | OMIM ID:107770 | developmental dysplasia of the hip 3 | DEVELOPMENTAL DYSPLASIA OF THE HIP 3 +BMGC_DS19770,BMG_DS076508,OMIM ID:604090 | YUKSEL-VOGEL-BAUER SYNDROME | UMLS ID:C5882751 | Yuksel-Vogel-Bauer syndrome | OMIM ID:620703 | MONDO:0958205 +BMGC_DS19771,BMG_DS076509,MONDO:0958206 | spermatogenic failure 89 | UMLS ID:C5882752 | DOID:0070588 | OMIM ID:620705 | SPERMATOGENIC FAILURE 89 | OMIM ID:615358 +BMGC_DS19772,BMG_DS076510,"epidermolytic hyperkeratosis 2B, autosomal recessive | MONDO:0700245 | OMIM ID:620707 | OMIM ID:148080 | UMLS ID:C5882753 | EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE" +BMGC_DS19773,BMG_DS076511,UMLS ID:C5882754 | MONDO:0958227 | OMIM ID:620712 | OMIM ID:154950 | POLYDACTYLY-MACROCEPHALY SYNDROME | polydactyly-macrocephaly syndrome +BMGC_DS19774,BMG_DS076512,OMIM ID:620499 | DOID:0070585 | UMLS ID:C5882755 | SPERMATOGENIC FAILURE 86 | OMIM ID:604303 | MONDO:0957593 | spermatogenic failure 86 +BMGC_DS19775,BMG_DS076513,"neutropenia, severe congenital, 10, autosomal recessive | NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE | UMLS ID:C5882756 | MONDO:0957809 | OMIM ID:604858 | OMIM ID:620534" +BMGC_DS19776,BMG_DS076514,"osteogenesis imperfecta, type 23 | MONDO:0957988 | OMIM ID:612834 | UMLS ID:C5882757 | OMIM ID:620639 | OSTEOGENESIS IMPERFECTA, TYPE XXIII" +BMGC_DS19777,BMG_DS076515,"OMIM ID:620700 | MONDO:0958204 | UMLS ID:C5882758 | intellectual developmental disorder, autosomal recessive 81 | OMIM ID:614217 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81" +BMGC_DS19778,BMG_DS076542,"AMELOGENESIS IMPERFECTA, TYPE IIIA | OMIM ID:130900 | OMIM ID:611927 | UMLS ID:C5886770 | amelogenesis imperfecta, type 3A | MONDO:0007538" +BMGC_DS19779,BMG_DS076544,"MeSH ID:D017092 | Porphyria, Erythropoietic, Congenital | Porphyria, Erythropoietic | MONDO:0009902 | cutaneous porphyria | UMLS ID:C5886774 | OMIM ID:263700" +BMGC_DS19780,BMG_DS076545,"OMIM ID:120200 | MONDO:0007350 | OMIM ID:607108 | UMLS ID:C5886785 | MICROPHTHALMIA/COLOBOMA 12 | coloboma, ocular, autosomal dominant" +BMGC_DS19781,BMG_DS076555,Listeriosis | UMLS ID:C5886852 | MeSH ID:D008088 | Listeria monocytogenes Infections +BMGC_DS19782,BMG_DS076568,"MONDO:0010614 | UMLS ID:C5887323 | OMIM ID:307150 | HYPERTRICHOSIS, CONGENITAL GENERALIZED, 2 | X-linked congenital generalized hypertrichosis" +BMGC_DS19783,BMG_DS076569,"short stature due to GHSR deficiency | OMIM ID:615925 | UMLS ID:C5887324 | MONDO:0014403 | OMIM ID:601898 | GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL" +BMGC_DS19784,BMG_DS076573,UMLS ID:C5888376 | OMIM ID:607204 | OMIM ID:617931 | SPINOCEREBELLAR ATAXIA 47 | cerebellar ataxia type 47 | DOID:0111743 +BMGC_DS19785,BMG_DS076574,AURONEURODENTAL SYNDROME | OMIM ID:607073 | UMLS ID:C5889721 | auroneurodental syndrome | OMIM ID:620830 | MONDO:0970998 +BMGC_DS19786,BMG_DS076576,"MONDO:0958238 | UMLS ID:C5889860 | OMIM ID:620730 | hyperemesis gravidarum, susceptibility to" +BMGC_DS19787,BMG_DS076577,"MeSH ID:D016116 | Piebaldism | Albinism, Partial | UMLS ID:C5890906" +BMGC_DS19788,BMG_DS076578,Blastomycosis | Blastomyces dermatitidis Infection | MeSH ID:D001759 | UMLS ID:C5890966 +BMGC_DS19789,BMG_DS077374,"UMLS ID:C5935566 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC | OMIM ID:254090 | Ullrich congenital muscular dystrophy 1B | OMIM ID:620727 | DOID:0060946;DOID:0060942 | Ullrich congenital muscular dystrophy 1A" +BMGC_DS19790,BMG_DS077375,"OMIM ID:301118 | UMLS ID:C5935567 | OMIM ID:314980 | intellectual developmental disorder, x-linked, syndromic 37 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37 | MONDO:0958322" +BMGC_DS19791,BMG_DS077376,"UMLS ID:C5935568 | DOID:0070599 | OMIM ID:301119 | spermatogenic failure, x-linked, 8 | SPERMATOGENIC FAILURE, X-LINKED, 8 | MONDO:0970943 | X-linked spermatogenic failure 8" +BMGC_DS19792,BMG_DS077377,"prostate cancer, hereditary, X-linked 3 | OMIM ID:301120 | MONDO:0971170 | UMLS ID:C5935569" +BMGC_DS19793,BMG_DS077378,"spastic paraplegia 30b, autosomal recessive | MONDO:0971149 | UMLS ID:C5935571 | SPASTIC PARAPLEGIA 30B, AUTOSOMAL RECESSIVE | OMIM ID:620607 | OMIM ID:601255" +BMGC_DS19794,BMG_DS077379,"MONDO:0971009 | OMIM ID:153450 | UMLS ID:C5935572 | amyloidosis, hereditary systemic 5 | OMIM ID:620658 | AMYLOIDOSIS, HEREDITARY SYSTEMIC 5" +BMGC_DS19795,BMG_DS077380,"AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 | amyloidosis, hereditary systemic 6 | UMLS ID:C5935573 | OMIM ID:620659 | OMIM ID:109700 | MONDO:0971010" +BMGC_DS19796,BMG_DS077381,"MONDO:0958224 | OMIM ID:620704 | UMLS ID:C5935574 | encephalopathy, porphyria-related | OMIM ID:609806 | ENCEPHALOPATHY, PORPHYRIA-RELATED" +BMGC_DS19797,BMG_DS077382,"MONDO:0958226 | leukoencephalopathy, porphyria-related | UMLS ID:C5935575 | OMIM ID:620711 | OMIM ID:609806 | LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED" +BMGC_DS19798,BMG_DS077383,"OMIM ID:618203 | hearing loss, autosomal recessive 122 | MONDO:0958228 | OMIM ID:620714 | UMLS ID:C5935576 | DEAFNESS, AUTOSOMAL RECESSIVE 122" +BMGC_DS19799,BMG_DS077384,"BLEEDING DISORDER, VASCULAR-TYPE | OMIM ID:612456 | MONDO:0958229 | bleeding disorder, vascular-type | UMLS ID:C5935577 | OMIM ID:620715" +BMGC_DS19800,BMG_DS077385,UMLS ID:C5935578 | orofaciodigital syndrome XX | OMIM ID:610917 | orofaciodigital syndrome 20 | OMIM ID:620718 | OROFACIODIGITAL SYNDROME XX | MONDO:0958230 | DOID:0060962 +BMGC_DS19801,BMG_DS077386,"UMLS ID:C5935579 | MONDO:0958232 | DOID:0070607 | OMIM ID:620722 | OMIM ID:606808 | hearing loss, autosomal dominant 90 | autosomal dominant nonsyndromic deafness 90 | DEAFNESS, AUTOSOMAL DOMINANT 90" +BMGC_DS19802,BMG_DS077387,OMIM ID:620725 | Bethlem myopathy 1B | BETHLEM MYOPATHY 1B | UMLS ID:C5935580 | MONDO:0958233 +BMGC_DS19803,BMG_DS077388,UMLS ID:C5935581 | MONDO:0958234 | OMIM ID:620726 | Bethlem myopathy 1C | BETHLEM MYOPATHY 1C +BMGC_DS19804,BMG_DS077389,Ullrich congenital muscular dystrophy 1B | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B | OMIM ID:620727 | DOID:0060942 | MONDO:0958235 | UMLS ID:C5935582 +BMGC_DS19805,BMG_DS077390,OMIM ID:620728 | MONDO:0958236 | UMLS ID:C5935583 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C | Ullrich congenital muscular dystrophy 1C | DOID:0060943 +BMGC_DS19806,BMG_DS077391,OMIM ID:601723 | UMLS ID:C5935584 | MONDO:0958239 | microphthalmia/coloboma 11 | MICROPHTHALMIA/COLOBOMA 11 | OMIM ID:620731 +BMGC_DS19807,BMG_DS077392,"OMIM ID:609763 | neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities | UMLS ID:C5935585 | OMIM ID:620732 | NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES | MONDO:0958240" +BMGC_DS19808,BMG_DS077393,"UMLS ID:C5935586 | cardiomyopathy, familial hypertrophic, 30, atrial | MONDO:0958241 | OMIM ID:620734 | OMIM ID:605236 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL" +BMGC_DS19809,BMG_DS077394,OMIM ID:620744 | MONDO:0958242 | SPERMATOGENIC FAILURE 90 | OMIM ID:620377 | spermatogenic failure 90 | DOID:0070589 | UMLS ID:C5935587 +BMGC_DS19810,BMG_DS077395,"MONDO:0958277 | OMIM ID:186591 | OMIM ID:620745 | UMLS ID:C5935588 | DEAFNESS, AUTOSOMAL RECESSIVE 123 | hearing loss, autosomal recessive 123" +BMGC_DS19811,BMG_DS077396,OMIM ID:605556 | MONDO:0958278 | neurodevelopmental disorder with hypotonia and characteristic brain abnormalities | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES | UMLS ID:C5935589 | OMIM ID:620746 +BMGC_DS19812,BMG_DS077397,OMIM ID:620747 | neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities | MONDO:0958323 | OMIM ID:617342 | UMLS ID:C5935590 | NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES +BMGC_DS19813,BMG_DS077398,MONDO:0958279 | UMLS ID:C5935591 | MEGALENCEPHALY-POLYDACTYLY SYNDROME | megalencephaly-polydactyly syndrome | OMIM ID:164840 | OMIM ID:620748 +BMGC_DS19814,BMG_DS077399,"generalized epilepsy with febrile seizures plus, type 12 | UMLS ID:C5935592 | OMIM ID:620755 | MONDO:0958324 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 | OMIM ID:616440" +BMGC_DS19815,BMG_DS077400,OMIM ID:620757 | THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY | MONDO:0958325 | thrombocytopenia 12 with or without myopathy | UMLS ID:C5935593 +BMGC_DS19816,BMG_DS077401,macular dystrophy with or without cone dysfunction | OMIM ID:620762 | OMIM ID:620493 | MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION | UMLS ID:C5935594 | MONDO:0958326 +BMGC_DS19817,BMG_DS077402,Seckel syndrome 11 | OMIM ID:620767 | UMLS ID:C5935595 | MONDO:0958328 | OMIM ID:617728 | SECKEL SYNDROME 11 +BMGC_DS19818,BMG_DS077403,Jeffries-Lakhani neurodevelopmental syndrome | MONDO:0958329 | OMIM ID:607170 | OMIM ID:620771 | UMLS ID:C5935596 | JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME +BMGC_DS19819,BMG_DS077404,developmental and epileptic encephalopathy 113 | OMIM ID:620772 | OMIM ID:185860 | MONDO:0958330 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 | UMLS ID:C5935597 +BMGC_DS19820,BMG_DS077405,UMLS ID:C5935598 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 | OMIM ID:616440 | MONDO:0958331 | OMIM ID:620774 | developmental and epileptic encephalopathy 114 +BMGC_DS19821,BMG_DS077406,"thrombocytopenia 13, syndromic | OMIM ID:606953 | MONDO:0958333 | THROMBOCYTOPENIA 13, SYNDROMIC | OMIM ID:620776 | UMLS ID:C5935599" +BMGC_DS19822,BMG_DS077407,"PULMONARY HYPERTENSION, PRIMARY, 6 | UMLS ID:C5935600 | OMIM ID:620777 | OMIM ID:114170 | pulmonary hypertension, primary, 6 | MONDO:0958334" +BMGC_DS19823,BMG_DS077408,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 | OMIM ID:620779 | DOID:0060947 | intellectual developmental disorder, autosomal recessive 82 | MONDO:0968944 | UMLS ID:C5935601 | OMIM ID:617199 | autosomal recessive intellectual developmental disorder 82" +BMGC_DS19824,BMG_DS077409,"MONDO:0958335 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID | OMIM ID:601548 | OMIM ID:620780 | cutis laxa, autosomal recessive, type 1d | UMLS ID:C5935602" +BMGC_DS19825,BMG_DS077410,"NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER | OMIM ID:620782 | neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder | UMLS ID:C5935603 | OMIM ID:601178 | MONDO:0968945" +BMGC_DS19826,BMG_DS077411,OMIM ID:610904 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 | developmental and epileptic encephalopathy 115 | OMIM ID:620783 | MONDO:0968946 | UMLS ID:C5935604 +BMGC_DS19827,BMG_DS077412,OMIM ID:610904 | OMIM ID:620784 | UMLS ID:C5935605 | NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY | MONDO:0968947 | neurodevelopmental disorder plus optic atrophy +BMGC_DS19828,BMG_DS077413,MONDO:0968976 | OMIM ID:616352 | neurodevelopmental disorder with progressive movement abnormalities | OMIM ID:620785 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES | UMLS ID:C5935606 +BMGC_DS19829,BMG_DS077414,"MONDO:0968977 | basal ganglia calcification, idiopathic, 9, autosomal recessive | OMIM ID:620786 | OMIM ID:614246 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE | UMLS ID:C5935607" +BMGC_DS19830,BMG_DS077415,MONDO:0968978 | OMIM ID:601575 | aplasia cutis-enamel dysplasia syndrome | OMIM ID:620789 | APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME | UMLS ID:C5935608 +BMGC_DS19831,BMG_DS077416,neurodevelopmental disorder with hypotonia and seizures | UMLS ID:C5935609 | OMIM ID:612024 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES | MONDO:0968979 | OMIM ID:620790 +BMGC_DS19832,BMG_DS077417,otosclerosis 12 | OTOSCLEROSIS 12 | MONDO:0968980 | UMLS ID:C5935610 | OMIM ID:603254 | OMIM ID:620792 +BMGC_DS19833,BMG_DS077418,"OMIM ID:607902 | OMIM ID:620793 | UMLS ID:C5935611 | MONDO:0971171 | muscular dystrophy, limb-girdle, autosomal recessive 29 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 29" +BMGC_DS19834,BMG_DS077419,"UMLS ID:C5935612 | autosomal recessive nonsyndromic hearing loss 124 | DEAFNESS, AUTOSOMAL RECESSIVE 124 | MONDO:0968981 | OMIM ID:620794 | OMIM ID:607843" +BMGC_DS19835,BMG_DS077420,MONDO:0968982 | autoinflammation with episodic fever and immune dysregulation | UMLS ID:C5935613 | OMIM ID:620795 | AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION | OMIM ID:611885 +BMGC_DS19836,BMG_DS077421,UMLS ID:C5935614 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 | proteasome-associated autoinflammatory syndrome 6 | OMIM ID:620796 | MONDO:0968983 | OMIM ID:177045 +BMGC_DS19837,BMG_DS077422,OMIM ID:138290 | DOID:0070545 | MONDO:0970945 | developmental and epileptic encephalopathy 116 | OMIM ID:620806 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 | UMLS ID:C5935615 +BMGC_DS19838,BMG_DS077423,immunodeficiency 121 with autoinflammation | OMIM ID:176847 | UMLS ID:C5935616 | OMIM ID:620807 | IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION | MONDO:0971001 +BMGC_DS19839,BMG_DS077424,MONDO:0971011 | OMIM ID:620813 | MHC class I deficiency 2 | OMIM ID:170261 | MHC CLASS I DEFICIENCY 2 | UMLS ID:C5935617 +BMGC_DS19840,BMG_DS077425,OMIM ID:620814 | UMLS ID:C5935618 | MONDO:0971012 | MHC CLASS I DEFICIENCY 3 | MHC class I deficiency 3 +BMGC_DS19841,BMG_DS077426,"OMIM ID:620819 | ROTHMUND-THOMSON SYNDROME, TYPE 4 | Rothmund-Thomson syndrome, type 4 | OMIM ID:601810 | MONDO:0970950 | UMLS ID:C5935619" +BMGC_DS19842,BMG_DS077427,El Hayek-Chahrour neurodevelopmental disorder | MONDO:0970951 | OMIM ID:180202 | UMLS ID:C5935620 | EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME | OMIM ID:620820 +BMGC_DS19843,BMG_DS077428,OMIM ID:620825 | UMLS ID:C5935621 | OMIM ID:605717 | MONDO:0970993 | IMMUNODEFICIENCY 119 | immunodeficiency 119 +BMGC_DS19844,BMG_DS077429,immunodeficiency 120 | MONDO:0970994 | OMIM ID:174761 | UMLS ID:C5935622 | OMIM ID:620836 | IMMUNODEFICIENCY 120 +BMGC_DS19845,BMG_DS077430,UMLS ID:C5935623 | MONDO:0970952 | DOID:0070590 | OMIM ID:620838 | OMIM ID:603960 | spermatogenic failure 91 | SPERMATOGENIC FAILURE 91 +BMGC_DS19846,BMG_DS077431,OMIM ID:616799 | MONDO:0970995 | OMIM ID:620840 | UMLS ID:C5935624 | premature ovarian failure 24 | PREMATURE OVARIAN FAILURE 24 +BMGC_DS19847,BMG_DS077432,DOID:0070591 | UMLS ID:C5935625 | OMIM ID:620848 | MONDO:0970999 | spermatogenic failure 92 | SPERMATOGENIC FAILURE 92 | OMIM ID:620708 +BMGC_DS19848,BMG_DS077433,UMLS ID:C5935626 | spermatogenic failure 93 | SPERMATOGENIC FAILURE 93 | DOID:0070592 | MONDO:0971000 | OMIM ID:607670 | OMIM ID:620849 +BMGC_DS19849,BMG_DS077434,spermatogenic failure 94 | DOID:0070593 | SPERMATOGENIC FAILURE 94 | OMIM ID:620850 | MONDO:0971002 | UMLS ID:C5935627 | OMIM ID:619829 +BMGC_DS19850,BMG_DS077435,"neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | OMIM ID:620823 | OMIM ID:620851 | MONDO:0971172 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE | UMLS ID:C5935628" +BMGC_DS19851,BMG_DS077436,"UMLS ID:C5935629 | OMIM ID:620852 | OMIM ID:604981 | neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities | MONDO:0971043 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES" +BMGC_DS19852,BMG_DS077437,"neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity | MONDO:0971150 | OMIM ID:603183 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 11, WITH SPASTICITY | OMIM ID:620854 | UMLS ID:C5935630" +BMGC_DS19853,BMG_DS077438,"UMLS ID:C5935631 | Ehlers-Danlos syndrome, classic-like, 3 | MONDO:0971044 | OMIM ID:620865 | OMIM ID:188061 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 3" +BMGC_DS19854,BMG_DS077439,immunodeficiency 122 | IMMUNODEFICIENCY 122 | MONDO:0971151 | OMIM ID:611415 | OMIM ID:620869 | UMLS ID:C5935632 +BMGC_DS19855,BMG_DS077440,"MONDO:0971152 | DEAFNESS, AUTOSOMAL RECESSIVE 125 | hearing loss, autosomal recessive 125 | OMIM ID:602835 | OMIM ID:620877 | UMLS ID:C5935633" +BMGC_DS19856,BMG_DS077441,OMIM ID:620880 | UMLS ID:C5935634 | AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS | OMIM ID:604834 | autoinflammation with arthritis and vasculitis | MONDO:0971173 +BMGC_DS19857,BMG_DS077442,OMIM ID:620887 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B | OMIM ID:103270 | multiple mitochondrial dysfunctions syndrome 9b | MONDO:0971174 | UMLS ID:C5935635 +BMGC_DS19858,BMG_DS077443,"CARDIOMYOPATHY, DILATED, 2K | OMIM ID:620894 | OMIM ID:614071 | UMLS ID:C5935636 | MONDO:0971175 | cardiomyopathy, dilated, 2K" +BMGC_DS19859,BMG_DS077444,OMIM ID:620897 | MONDO:0971176 | UMLS ID:C5935637 | OVARIAN DYSGENESIS 11 | OMIM ID:618611 | ovarian dysgenesis 11 +BMGC_DS19860,BMG_DS077445,OMIM ID:186760 | IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS | immunodeficiency 123 with HPV-related verrucosis | OMIM ID:620901 | MONDO:0971177 | UMLS ID:C5935639 +BMGC_DS19861,BMG_DS077446,UMLS ID:C5935640 | OMIM ID:620903 | polycystic kidney disease 8 | OMIM ID:609799 | POLYCYSTIC KIDNEY DISEASE 8 | MONDO:0971178 +BMGC_DS19862,BMG_DS077447,OMIM ID:620908 | UMLS ID:C5935641 | OMIM ID:130660 | MONDO:0971179 | ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME | arterial tortuosity-bone fragility syndrome +BMGC_DS19863,BMG_DS077448,OMIM ID:620910 | otofacial neurodevelopmental syndrome | UMLS ID:C5935642 | MONDO:0975705 | OMIM ID:618365 | OTOFACIAL NEURODEVELOPMENTAL SYNDROME +BMGC_DS19864,BMG_DS077449,"MONDO:0958332 | UMLS ID:C5935643 | OMIM ID:607307 | NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES | OMIM ID:620775 | neuromuscular disorder, congenital, with dysmorphic facies" +BMGC_DS19865,BMG_DS077473,OMIM ID:271110 | UMLS ID:C5935682 | SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND IMPAIRED INTELLECTUAL DEVELOPMENT | MONDO:0010055 | spinal muscular atrophy with microcephaly and mental subnormality +BMGC_DS19866,BMG_DS077478,UMLS ID:C5940798 | Hair Diseases | Plica polonica | MeSH ID:D006201 +BMGC_DS19867,BMG_DS077479,ASM Deficiency | MeSH ID:D009542 | Niemann-Pick Diseases | UMLS ID:C5940804 +BMGC_DS19868,BMG_DS077480,Pseudotumor Cerebri | MeSH ID:D011559 | UMLS ID:C5940805 | Fulminant Intracranial Hypertension +BMGC_DS19869,BMG_DS077481,MeSH ID:D011559 | UMLS ID:C5940806 | Pseudotumor Cerebri | Secondary Intracranial Hypertension +BMGC_DS19870,BMG_DS077485,DOID:0080094 | myofibrillar myopathy 3 | MeSH ID:C000598645 +BMGC_DS19871,BMG_DS077486,MeSH ID:C000656825 | DOID:0050096 | tinea barbae +BMGC_DS19872,BMG_DS077488,DOID:0060330 | Rapp-Hodgkin syndrome | MeSH ID:C535289 +BMGC_DS19873,BMG_DS077489,chromosome 5q deletion syndrome | DOID:0090016 | MeSH ID:C535323 +BMGC_DS19874,BMG_DS077490,distal arthrogryposis type 1A | DOID:0111597 | MeSH ID:C535378 +BMGC_DS19875,BMG_DS077491,Bethlem myopathy | MeSH ID:C535436 | DOID:0050663 +BMGC_DS19876,BMG_DS077492,MeSH ID:C535530 | MONDO:0020530 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency | DOID:0111955 | immunodeficiency 27A +BMGC_DS19877,BMG_DS077494,DOID:0060233 | MeSH ID:C535579 | cardiofaciocutaneous syndrome +BMGC_DS19878,BMG_DS077495,MeSH ID:C535594 | DOID:0060409 | NFIA-related disorder +BMGC_DS19879,BMG_DS077496,DOID:0060745 | MeSH ID:C535602 | Doyne honeycomb retinal dystrophy +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 muscular dystrophy 1 | MeSH ID:C535683 | MONDO:0019951 | DOID:0110633 | rigid spine syndrome +BMGC_DS19883,BMG_DS077500,spondyloepiphyseal dysplasia congenita | MeSH ID:C535788 | DOID:14789 +BMGC_DS19884,BMG_DS077501,DOID:0050757 | MeSH ID:C535808 | deafness-dystonia-optic neuronopathy syndrome +BMGC_DS19885,BMG_DS077502,MeSH ID:C535811 | DOID:0111165 | molybdenum cofactor deficiency +BMGC_DS19886,BMG_DS077503,DOID:0080047 | MeSH ID:C535819 | pseudoachondroplasia +BMGC_DS19887,BMG_DS077504,MeSH ID:C535857 | DOID:0111603 | distal arthrogryposis type 7 +BMGC_DS19888,BMG_DS077505,DOID:0080094 | myofibrillar myopathy 3 | MeSH ID:C535906 +BMGC_DS19889,BMG_DS077508,achondrogenesis type II | DOID:0080056 | MeSH ID:C536017 +BMGC_DS19890,BMG_DS077509,medium chain acyl-CoA dehydrogenase deficiency | MeSH ID:C536038 | DOID:0080153 +BMGC_DS19891,BMG_DS077510,"MONDO:0000070 | MeSH ID:C536092 | OMIM ID:607948 | Mycobacterium tuberculosis, susceptibility" +BMGC_DS19892,BMG_DS077511,"MONDO:0007526 | MeSH ID:C536201 | Ehlers-Danlos syndrome, spondylodysplastic type" +BMGC_DS19893,BMG_DS077512,congenital central hypoventilation syndrome | DOID:0060731 | MeSH ID:C536209 +BMGC_DS19894,BMG_DS077513,Joubert syndrome 2 | DOID:0110988 | MeSH ID:C536294 +BMGC_DS19895,BMG_DS077514,MeSH ID:C536295 | Joubert syndrome 3 | DOID:0110998 +BMGC_DS19896,BMG_DS077515,nonsyndromic congenital nail disorder 4 | MeSH ID:C536377 | DOID:0080082 +BMGC_DS19897,BMG_DS077516,DOID:0110950 | Waardenburg syndrome type 2A | MeSH ID:C536464 +BMGC_DS19898,BMG_DS077517,fetal akinesia deformation sequence | MeSH ID:C536647 | MONDO:0008824 +BMGC_DS19899,BMG_DS077518,DOID:0080696 | Winchester syndrome | MeSH ID:C536709 +BMGC_DS19900,BMG_DS077519,MeSH ID:C536787 | Charlevoix-Saguenay spastic ataxia | DOID:0050946 +BMGC_DS19901,BMG_DS077520,DOID:0111254 | glutaric acidemia I | MeSH ID:C536833 +BMGC_DS19902,BMG_DS077521,DOID:0050547 | familial medullary thyroid carcinoma | MeSH ID:C536911 +BMGC_DS19903,BMG_DS077522,DOID:0110070 | arrhythmogenic right ventricular dysplasia 1 | MeSH ID:C536932 +BMGC_DS19904,BMG_DS077523,Townes-Brocks syndrome | MeSH ID:C536974 | DOID:0050887 +BMGC_DS19905,BMG_DS077524,MeSH ID:C537047 | DOID:0050631 | Allan-Herndon-Dudley syndrome +BMGC_DS19906,BMG_DS077525,brachydactyly type A3 | MeSH ID:C537090 | DOID:0110966 +BMGC_DS19907,BMG_DS077526,DOID:0050694 | Brown-Vialetto-Van Laere syndrome | MeSH ID:C537111 +BMGC_DS19908,BMG_DS077527,DOID:0080549 | MeSH ID:C537117 | Noonan syndrome with multiple lentigines 2 +BMGC_DS19909,BMG_DS077528,MeSH ID:C537203 | spinocerebellar ataxia type 26 | DOID:0050975 +BMGC_DS19910,BMG_DS077529,formaldehyde poisoning | MeSH ID:C537268 | MONDO:0023176 +BMGC_DS19911,BMG_DS077530,distal arthrogryposis type 3 | DOID:0111607 | MeSH ID:C537288 +BMGC_DS19912,BMG_DS077533,sinonasal undifferentiated carcinoma | MeSH ID:C537344 | DOID:0080799 +BMGC_DS19913,BMG_DS077534,methylmalonic aciduria and homocystinuria | MeSH ID:C537359 | MONDO:0016826 +BMGC_DS19914,BMG_DS077535,"DOID:0080110 | contractures, pterygia, and spondylocarpotarsal fusion syndrome | MeSH ID:C537377" +BMGC_DS19915,BMG_DS077536,DOID:0111808 | MeSH ID:C537466 | linear skin defects with multiple congenital anomalies | linear skin defects with multiple congenital anomalies 1 | MONDO:0010672 +BMGC_DS19916,BMG_DS077537,DOID:0070013 | MeSH ID:C537534 | Seckel syndrome 2 +BMGC_DS19917,BMG_DS077539,DOID:0060608 | microcephalic osteodysplastic primordial dwarfism type I | MeSH ID:C537577 +BMGC_DS19918,BMG_DS077540,MeSH ID:C537658 | DOID:0050659 | biotin-responsive basal ganglia disease +BMGC_DS19919,BMG_DS077541,Joubert syndrome 5 | DOID:0111000 | MeSH ID:C537688 +BMGC_DS19920,BMG_DS077542,MeSH ID:C537689 | Joubert syndrome 6 | DOID:0111001 +BMGC_DS19921,BMG_DS077543,MeSH ID:C537709 | DOID:0060540 | Hermansky-Pudlak syndrome 2 +BMGC_DS19922,BMG_DS077546,MeSH ID:C537847 | DOID:0060581 | Noonan syndrome 3 +BMGC_DS19923,BMG_DS077547,MeSH ID:C537856 | OMIM ID:193003 | MONDO:0008654 | spinocerebellar ataxia 27A +BMGC_DS19924,BMG_DS077549,DOID:0060673 | MeSH ID:C537884 | Peters anomaly +BMGC_DS19925,BMG_DS077550,MeSH ID:C537935 | lattice corneal dystrophy | DOID:8943 +BMGC_DS19926,BMG_DS077551,MeSH ID:C538001 | DOID:0090056 | dystonia 12 +BMGC_DS19927,BMG_DS077553,frontonasal dysplasia | MeSH ID:C538065 | DOID:0081044 +BMGC_DS19928,BMG_DS077554,MONDO:0000722 | MeSH ID:C538153 | non-syndromic synpolydactyly +BMGC_DS19929,BMG_DS077555,DOID:0050678 | MeSH ID:C538157 | Blau syndrome +BMGC_DS19930,BMG_DS077557,retinitis pigmentosa 1 | MeSH ID:C538365 | DOID:0110390 +BMGC_DS19931,BMG_DS077558,DOID:0110936 | MeSH ID:C538397 | nemaline myopathy 5A +BMGC_DS19932,BMG_DS077559,MeSH ID:C538400 | distal arthrogryposis type 2B | DOID:0111599 +BMGC_DS19933,BMG_DS077560,OMIM ID:241510 | MONDO:0009428 | MeSH ID:C562440 | obsolete childhood hypophosphatasia +BMGC_DS19934,BMG_DS077563,lymphoid interstitial pneumonia | MeSH ID:C562489 | DOID:0050159 +BMGC_DS19935,BMG_DS077566,DOID:0070338 | cerebellar hypoplasia | MeSH ID:C562568 +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,DOID:0050630 | MeSH ID:C562664 | Aland Island eye disease +BMGC_DS19938,BMG_DS077569,OMIM ID:612423 | MeSH ID:C562725 | MONDO:0012901 | inherited prekallikrein deficiency +BMGC_DS19939,BMG_DS077571,3-methylglutaconic aciduria type 1 | MeSH ID:C562801 | DOID:0110002 +BMGC_DS19940,BMG_DS077572,craniodiaphyseal dysplasia | MeSH ID:C562940 | DOID:0080032 +BMGC_DS19941,BMG_DS077573,DOID:0110214 | MeSH ID:C562950 | cleft soft palate +BMGC_DS19942,BMG_DS077574,cranioectodermal dysplasia | DOID:0050577 | MeSH ID:C562966 +BMGC_DS19943,BMG_DS077575,DOID:0080044 | MeSH ID:C563007 | hypochondrogenesis +BMGC_DS19944,BMG_DS077576,preterm premature rupture of the membranes | MeSH ID:C563032 | DOID:0111144 +BMGC_DS19945,BMG_DS077577,basal laminar drusen | DOID:0060746 | MeSH ID:C563034 +BMGC_DS19946,BMG_DS077578,pigment dispersion syndrome | DOID:0060680 | MeSH ID:C563184 +BMGC_DS19947,BMG_DS077579,MeSH ID:C563206 | DOID:0112186 | thyroid dyshormonogenesis 2A +BMGC_DS19948,BMG_DS077580,DOID:14766 | renal agenesis | MeSH ID:C563261 +BMGC_DS19949,BMG_DS077581,inflammatory bowel disease 2 | DOID:0110900 | MeSH ID:C563310 +BMGC_DS19950,BMG_DS077582,MeSH ID:C563362 | MONDO:0011910 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | OMIM ID:607801 +BMGC_DS19951,BMG_DS077583,DOID:0060694 | MeSH ID:C563363 | Cayman type cerebellar ataxia +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,inclusion body myopathy with Paget disease of bone and frontotemporal dementia | MeSH ID:C563476 | DOID:0050881 +BMGC_DS19955,BMG_DS077587,MeSH ID:C563524 | DOID:0060403 | chromosome 17q11.2 deletion syndrome +BMGC_DS19956,BMG_DS077588,retinitis pigmentosa 27 | DOID:0110397 | MeSH ID:C563526 +BMGC_DS19957,BMG_DS077589,holoprosencephaly 7 | DOID:0110876 | MeSH ID:C563660 +BMGC_DS19958,BMG_DS077590,DOID:0080399 | orofacial cleft 5 | MeSH ID:C563843 +BMGC_DS19959,BMG_DS077591,DOID:0110886 | inflammatory bowel disease 9 | MeSH ID:C563926 +BMGC_DS19960,BMG_DS077592,"MeSH ID:C567925 | OMIM ID:146840 | MONDO:0007818 | hyper-IgE recurrent infection syndrome 1, autosomal dominant | OMIM ID:147060 | MeSH ID:C564135" +BMGC_DS19961,BMG_DS077593,Leber congenital amaurosis 11 | DOID:0110216 | MeSH ID:C564140 +BMGC_DS19962,BMG_DS077595,MeSH ID:C564181 | DOID:0110875 | holoprosencephaly 3 +BMGC_DS19963,BMG_DS077596,achromatopsia 4 | MeSH ID:C564206 | DOID:0110010 +BMGC_DS19964,BMG_DS077597,DOID:0110406 | MeSH ID:C564310 | retinitis pigmentosa 30 +BMGC_DS19965,BMG_DS077598,DOID:0111361 | MeSH ID:C564327 | hypotrichosis-lymphedema-telangiectasia syndrome +BMGC_DS19966,BMG_DS077599,MeSH ID:C564393 | DOID:0112174 | combined deficiency of vitamin K-dependent clotting factors 2 +BMGC_DS19967,BMG_DS077600,obsolete inherited genitourinary tract anomalies | MeSH ID:C564424 | OMIM ID:305690 | MONDO:0010594 +BMGC_DS19968,BMG_DS077601,MeSH ID:C564520 | retinitis pigmentosa 3 | DOID:0110414 +BMGC_DS19969,BMG_DS077602,DOID:0112148 | Uruguay faciocardiomusculoskeletal syndrome | MeSH ID:C564544 +BMGC_DS19970,BMG_DS077604,DOID:0111017 | MeSH ID:C564597 | cone-rod dystrophy 10 +BMGC_DS19971,BMG_DS077605,DOID:0111115 | MeSH ID:C564640 | nephronophthisis 4 +BMGC_DS19972,BMG_DS077606,DOID:0080533 | Carney-Stratakis syndrome | MeSH ID:C564650 +BMGC_DS19973,BMG_DS077607,inflammatory bowel disease 4 | DOID:0110903 | MeSH ID:C564680 +BMGC_DS19974,BMG_DS077608,DOID:0110907 | inflammatory bowel disease 6 | MeSH ID:C564681 +BMGC_DS19975,BMG_DS077609,inflammatory bowel disease 8 | MeSH ID:C564682 | DOID:0110904 +BMGC_DS19976,BMG_DS077610,congenital nonspherocytic hemolytic anemia 2 | DOID:0111077 | MeSH ID:C564858 +BMGC_DS19977,BMG_DS077612,obsoleted echo virus 11 sensitivity | MONDO:0007506 | OMIM ID:129150 | MeSH ID:C565071 +BMGC_DS19978,BMG_DS077613,DOID:0081109 | MeSH ID:C565102 | keratosis palmoplantaris striata 2 +BMGC_DS19979,BMG_DS077614,complement component 4a deficiency | DOID:0060297 | MeSH ID:C565167 +BMGC_DS19980,BMG_DS077615,cerebrooculofacioskeletal syndrome 4 | MeSH ID:C565184 | DOID:0080914 +BMGC_DS19981,BMG_DS077616,brachydactyly-syndactyly syndrome | MeSH ID:C565193 | DOID:0050689 +BMGC_DS19982,BMG_DS077617,retinitis pigmentosa 35 | MeSH ID:C565206 | DOID:0110357 +BMGC_DS19983,BMG_DS077618,DOID:0110889 | inflammatory bowel disease 5 | MeSH ID:C565234 +BMGC_DS19984,BMG_DS077619,MeSH ID:C565297 | exudative vitreoretinopathy 3 | DOID:0111409 +BMGC_DS19985,BMG_DS077621,macrocephaly-autism syndrome | DOID:0060867 | MeSH ID:C565342 +BMGC_DS19986,BMG_DS077622,DOID:0110882 | MeSH ID:C565353 | inflammatory bowel disease 7 +BMGC_DS19987,BMG_DS077623,DOID:0060245 | MeSH ID:C565409 | Mast syndrome +BMGC_DS19988,BMG_DS077624,DOID:0111355 | MeSH ID:C565504 | hydrolethalus syndrome 1 +BMGC_DS19989,BMG_DS077625,MeSH ID:C565561 | DOID:0111218 | Friedreich ataxia 1 +BMGC_DS19990,BMG_DS077627,DOID:0110630 | MeSH ID:C565733 | Wolfram syndrome 2 +BMGC_DS19991,BMG_DS077628,Bardet-Biedl syndrome 6 | MeSH ID:C565738 | DOID:0110128 +BMGC_DS19992,BMG_DS077629,inflammatory bowel disease 3 | MeSH ID:C565764 | DOID:0110891 +BMGC_DS19993,BMG_DS077630,nephronophthisis 3 | MeSH ID:C565780 | DOID:0111114 +BMGC_DS19994,BMG_DS077631,MeSH ID:C565831 | DOID:0111129 | focal segmental glomerulosclerosis 2 +BMGC_DS19995,BMG_DS077632,MeSH ID:C565840 | DOID:0110646 | long QT syndrome 3 +BMGC_DS19996,BMG_DS077633,Bardet-Biedl syndrome 7 | MeSH ID:C565916 | DOID:0110129 +BMGC_DS19997,BMG_DS077634,MeSH ID:C565917 | Bardet-Biedl syndrome 8 | DOID:0110130 +BMGC_DS19998,BMG_DS077635,DOID:0110131 | Bardet-Biedl syndrome 9 | MeSH ID:C565918 +BMGC_DS19999,BMG_DS077636,MeSH ID:C565919 | DOID:0110132 | Bardet-Biedl syndrome 10 +BMGC_DS20000,BMG_DS077637,DOID:0110133 | Bardet-Biedl syndrome 11 | MeSH ID:C565920 +BMGC_DS20001,BMG_DS077638,DOID:0110134 | Bardet-Biedl syndrome 12 | MeSH ID:C565921 +BMGC_DS20002,BMG_DS077639,DOID:0060689 | MeSH ID:C565924 | atrichia with papular lesions +BMGC_DS20003,BMG_DS077640,MeSH ID:C565942 | arterial tortuosity syndrome | DOID:0050645 +BMGC_DS20004,BMG_DS077642,DOID:0111593 | MeSH ID:C566069 | distal arthrogryposis type 10 +BMGC_DS20005,BMG_DS077643,MeSH ID:C566121 | DOID:0080395 | orofacial cleft 1 +BMGC_DS20006,BMG_DS077644,MeSH ID:C566345 | DOID:0060342 | acromelic frontonasal dysostosis +BMGC_DS20007,BMG_DS077645,MeSH ID:C566419 | DOID:0080396 | orofacial cleft 2 +BMGC_DS20008,BMG_DS077646,retinitis pigmentosa 36 | MeSH ID:C566431 | DOID:0110405 +BMGC_DS20009,BMG_DS077647,DOID:0110878 | holoprosencephaly 5 | MeSH ID:C566464 +BMGC_DS20010,BMG_DS077648,MeSH ID:C566470 | DOID:0081023 | retinal cone dystrophy 4 +BMGC_DS20011,BMG_DS077649,MeSH ID:C566582 | DOID:0111113 | nephronophthisis 2 +BMGC_DS20012,BMG_DS077650,Friedreich ataxia 2 | DOID:0111219 | MeSH ID:C566594 +BMGC_DS20013,BMG_DS077651,orofacial cleft 10 | MeSH ID:C566605 | DOID:0080403 +BMGC_DS20014,BMG_DS077652,retinitis pigmentosa 19 | DOID:0110354 | MeSH ID:C566637 +BMGC_DS20015,BMG_DS077653,MeSH ID:C566716 | DOID:0110387 | retinitis pigmentosa 9 +BMGC_DS20016,BMG_DS077654,MeSH ID:C566719 | DOID:0081024 | retinal cone dystrophy 1 +BMGC_DS20017,BMG_DS077656,OMIM ID:178000 | MONDO:0008337 | familial pterygium of the conjunctiva | MeSH ID:C566740 +BMGC_DS20018,BMG_DS077657,long QT syndrome 5 | MeSH ID:C566766 | DOID:0110647 +BMGC_DS20019,BMG_DS077658,MeSH ID:C566815 | DOID:0060563 | Char syndrome +BMGC_DS20020,BMG_DS077659,parietal foramina | MeSH ID:C566826 | MONDO:0018953 +BMGC_DS20021,BMG_DS077660,MeSH ID:C566906 | DOID:0080205 | CAKUT +BMGC_DS20022,BMG_DS077661,DOID:0111002 | Joubert syndrome 7 | MeSH ID:C566916 +BMGC_DS20023,BMG_DS077662,MeSH ID:C566930 | nephronophthisis 7 | DOID:0111116 +BMGC_DS20024,BMG_DS077663,multiple endocrine neoplasia type 4 | DOID:0080137 | MeSH ID:C567059 +BMGC_DS20025,BMG_DS077664,DOID:0080666 | warfarin sensitivity | MeSH ID:C567080 +BMGC_DS20026,BMG_DS077665,Bardet-Biedl syndrome 13 | MeSH ID:C567140 | DOID:0110135 +BMGC_DS20027,BMG_DS077667,Leber congenital amaurosis 13 | MeSH ID:C567197 | DOID:0110330 +BMGC_DS20028,BMG_DS077668,MeSH ID:C567410 | DOID:0080404 | orofacial cleft 11 +BMGC_DS20029,BMG_DS077669,dystonia 16 | DOID:0090048 | MeSH ID:C567430 +BMGC_DS20030,BMG_DS077670,bestrophinopathy | DOID:0050662 | MeSH ID:C567518 +BMGC_DS20031,BMG_DS077672,"DOID:0050812 | spondyloepimetaphyseal dysplasia, Pakistani type | MeSH ID:C567551" +BMGC_DS20032,BMG_DS077673,MeSH ID:C567624 | DOID:0080124 | mitochondrial DNA depletion syndrome 5 +BMGC_DS20033,BMG_DS077674,Parkinson's disease 14 | MeSH ID:C567844 | DOID:0060900 +BMGC_DS20034,BMG_DS077675,retinitis pigmentosa 42 | MeSH ID:C567854 | DOID:0110386 +BMGC_DS20035,BMG_DS077676,"MeSH ID:C567887 | DOID:0111771 | 46,XY sex reversal 4" +BMGC_DS20036,BMG_DS077677,MeSH ID:C571912 | inhalation anthrax | DOID:0050160 +BMGC_DS20037,BMG_DS077679,DOID:0080043 | MeSH ID:C579878 | achondrogenesis +BMGC_DS20038,BMG_DS077680,DOID:0111227 | MeSH ID:C579991 | frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +BMGC_DS20039,BMG_DS077682,immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | DOID:0090110 | MeSH ID:C580192 +BMGC_DS20040,BMG_DS077683,Larsen syndrome | MeSH ID:C580241 | DOID:14764 +BMGC_DS20041,BMG_DS077684,DOID:0080124 | mitochondrial DNA depletion syndrome 5 | MeSH ID:C580473 +BMGC_DS20042,BMG_DS077686,"Abdomen, Acute | MeSH ID:D000006" +BMGC_DS20043,BMG_DS077688,MeSH ID:D000008 | Abdominal Neoplasms +BMGC_DS20044,BMG_DS077689,MeSH ID:D000013 | MONDO:0000839 | obsolete congenital abnormality | Congenital Abnormalities +BMGC_DS20045,BMG_DS077690,"MeSH ID:D000014 | Abnormalities, Drug-Induced" +BMGC_DS20046,BMG_DS077691,"MeSH ID:D000015 | Abnormalities, Multiple" +BMGC_DS20047,BMG_DS077693,"MeSH ID:D000022 | Abortion, Spontaneous" +BMGC_DS20048,BMG_DS077697,"Abortion, Threatened | MeSH ID:D000033" +BMGC_DS20049,BMG_DS077698,Abruptio Placentae | MeSH ID:D000037 +BMGC_DS20050,BMG_DS077708,DOID:0060041 | autism spectrum disorder | MeSH ID:D000067877 +BMGC_DS20051,BMG_DS077723,MeSH ID:D000070598 | Anterior Cruciate Ligament Injuries +BMGC_DS20052,BMG_DS077729,"MeSH ID:D000070625 | Brain Injuries, Diffuse" +BMGC_DS20053,BMG_DS077731,"MeSH ID:D000070642 | Brain Injuries, Traumatic" +BMGC_DS20054,BMG_DS077735,Hyperekplexia | hyperekplexia 1 | DOID:0060696;DOID:0060695 | hyperekplexia | MeSH ID:D000071017 +BMGC_DS20055,BMG_DS077736,Anorectal Malformations | MeSH ID:D000071056 +BMGC_DS20056,BMG_DS077752,ST-elevation myocardial infarction | MeSH ID:D000072657 | MONDO:0041656 | ST Elevation Myocardial Infarction +BMGC_DS20057,BMG_DS077753,Ciliopathies | MeSH ID:D000072661 +BMGC_DS20058,BMG_DS077756,DOID:0060604 | Ankyloglossia | MeSH ID:D000072676 | ankyloglossia +BMGC_DS20059,BMG_DS077757,MeSH ID:D000072716 | Cancer Pain +BMGC_DS20060,BMG_DS077768,MeSH ID:D000074270 | Meconium Ileus +BMGC_DS20061,BMG_DS077769,MeSH ID:D000074607 | Opium Dependence +BMGC_DS20062,BMG_DS077773,Cardiac Conduction System Disease | MeSH ID:D000075224 +BMGC_DS20063,BMG_DS077774,MONDO:0023305 | heavy metal poisoning | Heavy Metal Poisoning | MeSH ID:D000075322 +BMGC_DS20064,BMG_DS077775,Immunoglobulin Light-chain Amyloidosis | immunoglobulin light chain amyloidosis | MeSH ID:D000075363 | DOID:0080933 +BMGC_DS20065,BMG_DS077778,MeSH ID:D000075902 | Clinical Deterioration +BMGC_DS20066,BMG_DS077780,MeSH ID:D000076064 | Drug Misuse +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,"MeSH ID:D000077216 | Carcinoma, Ovarian Epithelial" +BMGC_DS20070,BMG_DS077786,MeSH ID:D000077260 | Sleepiness +BMGC_DS20071,BMG_DS077787,"Thyroid Cancer, Papillary | MeSH ID:D000077273" +BMGC_DS20072,BMG_DS077788,Nasopharyngeal Carcinoma | MeSH ID:D000077274 +BMGC_DS20073,BMG_DS077789,MeSH ID:D000077277 | Esophageal Squamous Cell Carcinoma +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 | Shwachman-Diamond syndrome | DOID:0060479 | MeSH ID:D000081003 +BMGC_DS20077,BMG_DS077813,MeSH ID:D000081015 | Ototoxicity +BMGC_DS20078,BMG_DS077814,MeSH ID:D000081029 | Pulmonary Arterial Hypertension +BMGC_DS20079,BMG_DS077832,MeSH ID:D000084202 | Chemotherapy-Related Cognitive Impairment +BMGC_DS20080,BMG_DS077833,Hyperthermia | MeSH ID:D000084462 +BMGC_DS20081,BMG_DS077834,"Mesothelioma, Malignant | MeSH ID:D000086002" +BMGC_DS20082,BMG_DS077835,MeSH ID:D000086582 | Anosmia +BMGC_DS20083,BMG_DS077836,Rhinorrhea | MeSH ID:D000086722 +BMGC_DS20084,BMG_DS077876,"Melanoma, Cutaneous Malignant | MeSH ID:D000096142" +BMGC_DS20085,BMG_DS077890,MeSH ID:D000098943 | Uveal Melanoma +BMGC_DS20086,BMG_DS077899,MeSH ID:D000130 | Achondroplasia +BMGC_DS20087,BMG_DS077900,Acid-Base Imbalance | MeSH ID:D000137 +BMGC_DS20088,BMG_DS077901,MeSH ID:D000138 | Acidosis +BMGC_DS20089,BMG_DS077902,Acrodynia | MONDO:0016588 | MeSH ID:D000170 | infantile mercury poisoning +BMGC_DS20090,BMG_DS077904,MeSH ID:D000210 | Acute-Phase Reaction +BMGC_DS20091,BMG_DS077905,MeSH ID:D000230 | Adenocarcinoma +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,MeSH ID:D000306 | Adrenal Cortex Neoplasms +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,MeSH ID:D000435 | Alcoholic Intoxication +BMGC_DS20102,BMG_DS077928,MeSH ID:D000437 | Alcoholism +BMGC_DS20103,BMG_DS077929,"MeSH ID:D000472 | Alkalosis, Respiratory" +BMGC_DS20104,BMG_DS077930,"Alveolitis, Extrinsic Allergic | MeSH ID:D000542" +BMGC_DS20105,BMG_DS077931,MeSH ID:D000564 | ameloblastoma | Ameloblastoma | DOID:0050894 +BMGC_DS20106,BMG_DS077932,MeSH ID:D000567 | Amelogenesis Imperfecta +BMGC_DS20107,BMG_DS077933,Amenorrhea | MeSH ID:D000568 +BMGC_DS20108,BMG_DS077934,MeSH ID:D000647 | Amnesia +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,"MeSH ID:D000754 | Anemia, Refractory, with Excess of Blasts" +BMGC_DS20116,BMG_DS077944,"MeSH ID:D000756 | Anemia, Sideroblastic" +BMGC_DS20117,BMG_DS077945,Anencephaly | anencephaly | DOID:0060668 | MeSH ID:D000757 +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,MeSH ID:D000787 | Angina Pectoris +BMGC_DS20122,BMG_DS077950,MeSH ID:D000794 | Angiokeratoma +BMGC_DS20123,BMG_DS077951,MeSH ID:D000799 | Angioedema +BMGC_DS20124,BMG_DS077952,MeSH ID:D000839 | DOID:0050304 | aniseikonia | Aniseikonia +BMGC_DS20125,BMG_DS077953,MeSH ID:D000844 | Ankylosis +BMGC_DS20126,BMG_DS077954,Anodontia | MeSH ID:D000848 +BMGC_DS20127,BMG_DS077956,Anophthalmos | MeSH ID:D000853 +BMGC_DS20128,BMG_DS077957,MeSH ID:D000860 | Hypoxia +BMGC_DS20129,BMG_DS077958,Anthrax | MeSH ID:D000881 +BMGC_DS20130,BMG_DS077959,MeSH ID:D001005 | Anus Neoplasms +BMGC_DS20131,BMG_DS077960,"MeSH ID:D001006 | Anus, Imperforate" +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,MeSH ID:D001044 | Aphonia +BMGC_DS20137,BMG_DS077970,MeSH ID:D001049 | Apnea +BMGC_DS20138,BMG_DS077974,MONDO:0018952 | MeSH ID:D001129 | argyria | Argyria +BMGC_DS20139,BMG_DS077976,MeSH ID:D001139 | Arnold-Chiari Malformation +BMGC_DS20140,BMG_DS077977,"MeSH ID:D001146 | Arrhythmia, Sinus" +BMGC_DS20141,BMG_DS077980,obsolete rare arteriovenous malformation | MeSH ID:D001165 | Arteriovenous Malformations | MONDO:0016234 +BMGC_DS20142,BMG_DS077981,Arteritis | MeSH ID:D001167 +BMGC_DS20143,BMG_DS077982,"Arthritis, Experimental | MeSH ID:D001169" +BMGC_DS20144,BMG_DS077983,arthrogryposis syndrome | MeSH ID:D001176 | MONDO:0015225 | Arthrogryposis +BMGC_DS20145,BMG_DS077986,MeSH ID:D001237 | Asphyxia +BMGC_DS20146,BMG_DS077987,MeSH ID:D001247 | Asthenia +BMGC_DS20147,BMG_DS077989,MeSH ID:D001254 | Astrocytoma +BMGC_DS20148,BMG_DS077991,MeSH ID:D001282 | Atrial Flutter +BMGC_DS20149,BMG_DS077992,MeSH ID:D001284 | Atrophy +BMGC_DS20150,BMG_DS077993,MeSH ID:D001308 | Auditory Perceptual Disorders +BMGC_DS20151,BMG_DS077997,MeSH ID:D001437 | Bacteriuria +BMGC_DS20152,BMG_DS077999,Basal Cell Nevus Syndrome | MeSH ID:D001478 +BMGC_DS20153,BMG_DS078000,MeSH ID:D001523 | MONDO:0002025 | psychiatric disorder +BMGC_DS20154,BMG_DS078002,Bile Duct Neoplasms | MeSH ID:D001650 +BMGC_DS20155,BMG_DS078003,MeSH ID:D001656 | Biliary Atresia +BMGC_DS20156,BMG_DS078005,Biliary Tract Neoplasms | MeSH ID:D001661 +BMGC_DS20157,BMG_DS078007,MeSH ID:D001724 | Birth Weight +BMGC_DS20158,BMG_DS078010,MeSH ID:D001744 | Urinary Bladder Calculi +BMGC_DS20159,BMG_DS078012,MeSH ID:D001748 | Urinary Bladder Neck Obstruction +BMGC_DS20160,BMG_DS078013,MeSH ID:D001749 | Urinary Bladder Neoplasms +BMGC_DS20161,BMG_DS078014,MeSH ID:D001752 | Blast Crisis +BMGC_DS20162,BMG_DS078016,MeSH ID:D001768 | Blister +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,DOID:0080011 | Bone Resorption | bone resorption disease | MeSH ID:D001862 +BMGC_DS20167,BMG_DS078023,Bowen's Disease | MeSH ID:D001913 +BMGC_DS20168,BMG_DS078024,MeSH ID:D001919 | Bradycardia +BMGC_DS20169,BMG_DS078026,MeSH ID:D001926 | Brain Death +BMGC_DS20170,BMG_DS078027,MeSH ID:D001929 | Brain Edema +BMGC_DS20171,BMG_DS078028,Brain Injuries | MONDO:0043510 | MeSH ID:D001930 | brain injury +BMGC_DS20172,BMG_DS078029,MeSH ID:D001932 | Brain Neoplasms +BMGC_DS20173,BMG_DS078031,MeSH ID:D001943 | Breast Neoplasms +BMGC_DS20174,BMG_DS078035,MeSH ID:D001984 | Bronchial Neoplasms +BMGC_DS20175,BMG_DS078039,Bruxism | MeSH ID:D002012 +BMGC_DS20176,BMG_DS078040,MeSH ID:D002032 | Bulimia +BMGC_DS20177,BMG_DS078041,Burkitt Lymphoma | MeSH ID:D002051 +BMGC_DS20178,BMG_DS078043,burn | Burns | MeSH ID:D002056 | MONDO:0043519 +BMGC_DS20179,BMG_DS078044,"Burns, Chemical | MeSH ID:D002057" +BMGC_DS20180,BMG_DS078047,MeSH ID:D002100 | Cachexia +BMGC_DS20181,BMG_DS078049,MONDO:0043523 | cadmium poisoning | MeSH ID:D002105 | Cadmium Poisoning +BMGC_DS20182,BMG_DS078050,Calcinosis | MeSH ID:D002114 +BMGC_DS20183,BMG_DS078051,MeSH ID:D002137 | Calculi +BMGC_DS20184,BMG_DS078054,"cutaneous candidiasis | MeSH ID:D002179 | DOID:0080161 | Candidiasis, Cutaneous" +BMGC_DS20185,BMG_DS078055,"MeSH ID:D002180 | Candidiasis, Oral" +BMGC_DS20186,BMG_DS078056,MeSH ID:D002249 | Carbon Monoxide Poisoning +BMGC_DS20187,BMG_DS078057,MeSH ID:D002252 | Carbon Tetrachloride Poisoning +BMGC_DS20188,BMG_DS078059,Carcinoid Tumor | MeSH ID:D002276 +BMGC_DS20189,BMG_DS078060,Carcinoma | MeSH ID:D002277 +BMGC_DS20190,BMG_DS078061,MeSH ID:D002278 | Carcinoma in Situ +BMGC_DS20191,BMG_DS078062,"MeSH ID:D002279 | Carcinoma 256, Walker" +BMGC_DS20192,BMG_DS078063,"Carcinoma, Basal Cell | MeSH ID:D002280" +BMGC_DS20193,BMG_DS078065,"MeSH ID:D002282 | Adenocarcinoma, Bronchiolo-Alveolar" +BMGC_DS20194,BMG_DS078066,"MeSH ID:D002283 | Carcinoma, Bronchogenic" +BMGC_DS20195,BMG_DS078068,"Carcinoma, Intraductal, Noninfiltrating | MeSH ID:D002285" +BMGC_DS20196,BMG_DS078069,"Carcinoma, Ehrlich Tumor | MeSH ID:D002286" +BMGC_DS20197,BMG_DS078071,"MeSH ID:D002288 | Adenocarcinoma, Mucinous" +BMGC_DS20198,BMG_DS078072,"MeSH ID:D002289 | Carcinoma, Non-Small-Cell Lung" +BMGC_DS20199,BMG_DS078073,"MeSH ID:D002291 | Carcinoma, Papillary" +BMGC_DS20200,BMG_DS078074,"MeSH ID:D002292 | Carcinoma, Renal Cell" +BMGC_DS20201,BMG_DS078076,"MeSH ID:D002294 | Carcinoma, Squamous Cell" +BMGC_DS20202,BMG_DS078077,"MeSH ID:D002295 | Carcinoma, Transitional Cell" +BMGC_DS20203,BMG_DS078078,Carcinosarcoma | MeSH ID:D002296 +BMGC_DS20204,BMG_DS078079,"MeSH ID:D002303 | Cardiac Output, Low" +BMGC_DS20205,BMG_DS078080,"MeSH ID:D002313 | Cardiomyopathy, Restrictive" +BMGC_DS20206,BMG_DS078082,Catalepsy | MeSH ID:D002375 +BMGC_DS20207,BMG_DS078083,Cecal Neoplasms | MeSH ID:D002430 +BMGC_DS20208,BMG_DS078084,"MeSH ID:D002471 | Cell Transformation, Neoplastic" +BMGC_DS20209,BMG_DS078087,Central Nervous System Diseases | MeSH ID:D002493 +BMGC_DS20210,BMG_DS078089,"MeSH ID:D002534 | Hypoxia, Brain" +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,MeSH ID:D002583 | Uterine Cervical Neoplasms +BMGC_DS20215,BMG_DS078098,MONDO:0024305 | MeSH ID:D006966 | acquired hyperprolactinemia | MeSH ID:D002640 +BMGC_DS20216,BMG_DS078100,MONDO:0005287 | developmental disability | MeSH ID:D002658 +BMGC_DS20217,BMG_DS078102,Choanal Atresia | MeSH ID:D002754 +BMGC_DS20218,BMG_DS078103,"MeSH ID:D002759 | Adenoma, Bile Duct" +BMGC_DS20219,BMG_DS078104,MeSH ID:D002804 | Chondroblastoma +BMGC_DS20220,BMG_DS078105,MeSH ID:D002812 | Chondroma +BMGC_DS20221,BMG_DS078106,MeSH ID:D002813 | Chondrosarcoma +BMGC_DS20222,BMG_DS078107,MeSH ID:D002817 | Chordoma +BMGC_DS20223,BMG_DS078112,MeSH ID:D002832 | Choroid Hemorrhage +BMGC_DS20224,BMG_DS078113,MeSH ID:D002869 | Chromosome Aberrations +BMGC_DS20225,BMG_DS078114,Chromosome Deletion | MeSH ID:D002872 +BMGC_DS20226,BMG_DS078115,Chromosome Fragility | MeSH ID:D002873 +BMGC_DS20227,BMG_DS078117,MeSH ID:D002971 | Cleft Lip +BMGC_DS20228,BMG_DS078118,Cleft Palate | MeSH ID:D002972 +BMGC_DS20229,BMG_DS078119,MeSH ID:D003025 | Clubfoot +BMGC_DS20230,BMG_DS078124,Coloboma | MeSH ID:D003103 +BMGC_DS20231,BMG_DS078125,Colonic Neoplasms | MeSH ID:D003110 +BMGC_DS20232,BMG_DS078126,MeSH ID:D003111 | Colonic Polyps +BMGC_DS20233,BMG_DS078128,Communication Disorders | MeSH ID:D003147 +BMGC_DS20234,BMG_DS078129,Compartment Syndromes | MeSH ID:D003161 +BMGC_DS20235,BMG_DS078130,MeSH ID:D003221 | Confusion +BMGC_DS20236,BMG_DS078134,Consciousness Disorders | MeSH ID:D003244 +BMGC_DS20237,BMG_DS078135,MeSH ID:D003248 | Constipation +BMGC_DS20238,BMG_DS078136,"Constriction, Pathologic | MeSH ID:D003251" +BMGC_DS20239,BMG_DS078137,Contracture | obsolete contracture | MeSH ID:D003286 | MONDO:0005307 +BMGC_DS20240,BMG_DS078141,MeSH ID:D003318 | Corneal Opacity +BMGC_DS20241,BMG_DS078142,Coronary Disease | MeSH ID:D003327 +BMGC_DS20242,BMG_DS078143,MeSH ID:D003330 | Coronary Vessel Anomalies +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,MeSH ID:D003456 | Cryptorchidism +BMGC_DS20247,BMG_DS078152,MeSH ID:D003490 | Cyanosis +BMGC_DS20248,BMG_DS078153,"adenoid cystic carcinoma | DOID:0080202 | MeSH ID:D003528 | Carcinoma, Adenoid Cystic" +BMGC_DS20249,BMG_DS078155,MeSH ID:D003537 | Cystadenoma +BMGC_DS20250,BMG_DS078156,MeSH ID:D003557 | Phyllodes Tumor +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,"MeSH ID:D003645 | Death, Sudden" +BMGC_DS20255,BMG_DS078162,MeSH ID:D003668 | Pressure Ulcer +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,MeSH ID:D004065 | Digestive System Abnormalities +BMGC_DS20265,BMG_DS078182,MeSH ID:D004067 | Digestive System Neoplasms +BMGC_DS20266,BMG_DS078183,"MeSH ID:D004108 | Dilatation, Pathologic" +BMGC_DS20267,BMG_DS078185,"Disease Models, Animal | MeSH ID:D004195" +BMGC_DS20268,BMG_DS078186,MeSH ID:D004198 | Disease Susceptibility +BMGC_DS20269,BMG_DS078189,Dizziness | MeSH ID:D004244 +BMGC_DS20270,BMG_DS078191,Drug Hypersensitivity | MeSH ID:D004342 +BMGC_DS20271,BMG_DS078192,"MeSH ID:D004374 | Ductus Arteriosus, Patent" +BMGC_DS20272,BMG_DS078194,"MeSH ID:D004393 | Dwarfism, Pituitary" +BMGC_DS20273,BMG_DS078195,Dysarthria | MeSH ID:D004401 +BMGC_DS20274,BMG_DS078197,MeSH ID:D004408 | Dysgeusia +BMGC_DS20275,BMG_DS078198,MeSH ID:D004410 | Dyslexia +BMGC_DS20276,BMG_DS078201,Dyspepsia | MeSH ID:D004415 +BMGC_DS20277,BMG_DS078203,MeSH ID:D004417 | Dyspnea +BMGC_DS20278,BMG_DS078204,Dystocia | MeSH ID:D004420 +BMGC_DS20279,BMG_DS078205,Dystonia | MeSH ID:D004421 +BMGC_DS20280,BMG_DS078207,auditory system cancer | Ear Neoplasms | MeSH ID:D004428 | MONDO:0004532 +BMGC_DS20281,BMG_DS078209,MeSH ID:D004437 | Ebstein Anomaly +BMGC_DS20282,BMG_DS078212,MeSH ID:D004479 | Ectopia Lentis +BMGC_DS20283,BMG_DS078213,Ectromelia | MeSH ID:D004480 +BMGC_DS20284,BMG_DS078214,MeSH ID:D004487 | Edema +BMGC_DS20285,BMG_DS078215,"Edema, Cardiac | MeSH ID:D004489" +BMGC_DS20286,BMG_DS078217,MeSH ID:D004614 | Emaciation +BMGC_DS20287,BMG_DS078218,MeSH ID:D004617 | Embolism +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,MeSH ID:D004819 | Epidermodysplasia Verruciformis +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,MeSH ID:D004938 | Esophageal Neoplasms +BMGC_DS20299,BMG_DS078249,Exanthema | MeSH ID:D005076 +BMGC_DS20300,BMG_DS078250,"Exostoses, Multiple Hereditary | MeSH ID:D005097" +BMGC_DS20301,BMG_DS078251,MeSH ID:D005119 | Extravasation of Diagnostic and Therapeutic Materials +BMGC_DS20302,BMG_DS078252,MeSH ID:D005124 | Eye Abnormalities +BMGC_DS20303,BMG_DS078253,MeSH ID:D005126 | Eye Burns +BMGC_DS20304,BMG_DS078254,visual impairment and progressive phthisis bulbi | MeSH ID:D005128 | DOID:0070356 | Eye Diseases +BMGC_DS20305,BMG_DS078256,Eye Hemorrhage | MeSH ID:D005130 +BMGC_DS20306,BMG_DS078257,MeSH ID:D005131 | Eye Injuries +BMGC_DS20307,BMG_DS078258,MeSH ID:D005132 | Eye Manifestations +BMGC_DS20308,BMG_DS078259,MeSH ID:D005134 | Eye Neoplasms +BMGC_DS20309,BMG_DS078261,MeSH ID:D005146 | Facial Asymmetry +BMGC_DS20310,BMG_DS078262,Facial Injuries | MeSH ID:D005151 +BMGC_DS20311,BMG_DS078264,MeSH ID:D005157 | Facial Pain +BMGC_DS20312,BMG_DS078265,MeSH ID:D005166 | Factor V Deficiency +BMGC_DS20313,BMG_DS078266,Factor XI Deficiency | MeSH ID:D005173 +BMGC_DS20314,BMG_DS078267,MeSH ID:D005177 | Factor XIII Deficiency +BMGC_DS20315,BMG_DS078269,MeSH ID:D005207 | Fasciculation +BMGC_DS20316,BMG_DS078271,MeSH ID:D005221 | Fatigue +BMGC_DS20317,BMG_DS078274,MeSH ID:D005262 | Feminization +BMGC_DS20318,BMG_DS078275,MeSH ID:D005264 | Femoral Fractures +BMGC_DS20319,BMG_DS078278,MeSH ID:D005313 | Fetal Death +BMGC_DS20320,BMG_DS078279,Fetal Distress | MeSH ID:D005316 +BMGC_DS20321,BMG_DS078280,Fetal Growth Retardation | MeSH ID:D005317 +BMGC_DS20322,BMG_DS078281,MeSH ID:D005320 | Fetal Macrosomia +BMGC_DS20323,BMG_DS078284,MeSH ID:D005334 | Fever +BMGC_DS20324,BMG_DS078286,Fibroma | MeSH ID:D005350 | fibroma | DOID:0050871 +BMGC_DS20325,BMG_DS078288,MeSH ID:D005354 | Fibrosarcoma +BMGC_DS20326,BMG_DS078289,Finger Injuries | MeSH ID:D005383 +BMGC_DS20327,BMG_DS078290,MeSH ID:D005402 | Fistula +BMGC_DS20328,BMG_DS078292,MeSH ID:D005413 | Flatfoot +BMGC_DS20329,BMG_DS078294,MeSH ID:D005458 | Fluoride Poisoning +BMGC_DS20330,BMG_DS078295,MeSH ID:D005483 | Flushing +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,MeSH ID:D005549 | Foreign-Body Reaction +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,MeSH ID:D005739 | Gas Poisoning +BMGC_DS20339,BMG_DS078319,Gastric Fistula | MeSH ID:D005747 +BMGC_DS20340,BMG_DS078320,MeSH ID:D005764 | Gastroesophageal Reflux +BMGC_DS20341,BMG_DS078321,Gastrointestinal Neoplasms | MeSH ID:D005770 +BMGC_DS20342,BMG_DS078322,"MeSH ID:D005833 | Genital Neoplasms, Female" +BMGC_DS20343,BMG_DS078325,Castleman Disease | MeSH ID:D005871 +BMGC_DS20344,BMG_DS078326,MeSH ID:D005879 | Tourette Syndrome +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,MeSH ID:D005909 | Glioblastoma +BMGC_DS20349,BMG_DS078333,Glioma | MeSH ID:D005910 +BMGC_DS20350,BMG_DS078334,MeSH ID:D005911 | Gliosis +BMGC_DS20351,BMG_DS078337,Glossalgia | MeSH ID:D005926 +BMGC_DS20352,BMG_DS078338,MeSH ID:D005935 | Glucagonoma +BMGC_DS20353,BMG_DS078339,MeSH ID:D005955 | Glucosephosphate Dehydrogenase Deficiency +BMGC_DS20354,BMG_DS078340,MeSH ID:D006029 | Glycosuria +BMGC_DS20355,BMG_DS078341,"MeSH ID:D006030 | Glycosuria, Renal" +BMGC_DS20356,BMG_DS078343,Gonadal Dysgenesis | MeSH ID:D006059 +BMGC_DS20357,BMG_DS078344,"MeSH ID:D006083 | Graft Occlusion, Vascular" +BMGC_DS20358,BMG_DS078345,Granuloma | MeSH ID:D006099 +BMGC_DS20359,BMG_DS078346,"MeSH ID:D006104 | Granuloma, Plasma Cell" +BMGC_DS20360,BMG_DS078347,Granulosa Cell Tumor | MeSH ID:D006106 +BMGC_DS20361,BMG_DS078348,MeSH ID:D006130 | Growth Disorders +BMGC_DS20362,BMG_DS078349,MeSH ID:D006209 | Halitosis +BMGC_DS20363,BMG_DS078350,Hallucinations | MeSH ID:D006212 +BMGC_DS20364,BMG_DS078352,MeSH ID:D006222 | Hamartoma +BMGC_DS20365,BMG_DS078355,"Hand Deformities, Congenital | MeSH ID:D006228" +BMGC_DS20366,BMG_DS078357,"MeSH ID:D006255 | Rhinitis, Allergic, Seasonal" +BMGC_DS20367,BMG_DS078358,MeSH ID:D006258 | Head and Neck Neoplasms +BMGC_DS20368,BMG_DS078359,Craniocerebral Trauma | MeSH ID:D006259 +BMGC_DS20369,BMG_DS078360,Headache | MeSH ID:D006261 +BMGC_DS20370,BMG_DS078361,"MeSH ID:D006314 | Hearing Loss, Conductive" +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,MeSH ID:D006343 | Heart Septal Defects +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,MeSH ID:D006349 | Heart Valve Diseases +BMGC_DS20380,BMG_DS078373,Heartburn | MeSH ID:D006356 +BMGC_DS20381,BMG_DS078376,Hemangioendothelioma | MeSH ID:D006390 +BMGC_DS20382,BMG_DS078377,MeSH ID:D006391 | Hemangioma +BMGC_DS20383,BMG_DS078379,MeSH ID:D006393 | Hemangiopericytoma +BMGC_DS20384,BMG_DS078380,Hemangiosarcoma | MeSH ID:D006394 +BMGC_DS20385,BMG_DS078382,MeSH ID:D006396 | Hematemesis +BMGC_DS20386,BMG_DS078384,Hematoma | MeSH ID:D006406 +BMGC_DS20387,BMG_DS078385,"MeSH ID:D006407 | Hematoma, Epidural, Cranial" +BMGC_DS20388,BMG_DS078386,"MeSH ID:D006408 | Hematoma, Subdural" +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,MeSH ID:D006491 | Hemothorax +BMGC_DS20395,BMG_DS078397,"Carcinoma, Hepatocellular | MeSH ID:D006528" +BMGC_DS20396,BMG_DS078398,MeSH ID:D006529 | Hepatomegaly +BMGC_DS20397,BMG_DS078400,"MeSH ID:D006548 | Hernia, Diaphragmatic" +BMGC_DS20398,BMG_DS078404,"obsolete umbilical hernia | Hernia, Umbilical | MeSH ID:D006554 | MONDO:0000747" +BMGC_DS20399,BMG_DS078406,MeSH ID:D006556 | Heroin Dependence +BMGC_DS20400,BMG_DS078407,MeSH ID:D006561 | Herpes Simplex +BMGC_DS20401,BMG_DS078409,Hiccup | MeSH ID:D006606 +BMGC_DS20402,BMG_DS078414,MONDO:0005327 | MeSH ID:D006620 | hip fracture | Hip Fractures +BMGC_DS20403,BMG_DS078415,MeSH ID:D006623 | von Hippel-Lindau Disease +BMGC_DS20404,BMG_DS078416,MeSH ID:D006679 | HIV Seropositivity +BMGC_DS20405,BMG_DS078418,MeSH ID:D006689 | MONDO:0004952 | Hodgkin Disease | Hodgkins lymphoma +BMGC_DS20406,BMG_DS078420,MeSH ID:D006828 | Hydatidiform Mole +BMGC_DS20407,BMG_DS078421,Polyhydramnios | MeSH ID:D006831 +BMGC_DS20408,BMG_DS078422,Hydranencephaly | MeSH ID:D006832 +BMGC_DS20409,BMG_DS078424,MeSH ID:D006848 | Testicular Hydrocele +BMGC_DS20410,BMG_DS078427,MeSH ID:D006930 | Hyperalgesia +BMGC_DS20411,BMG_DS078428,Hypercapnia | MeSH ID:D006935 +BMGC_DS20412,BMG_DS078430,MeSH ID:D006941 | Hyperesthesia +BMGC_DS20413,BMG_DS078431,MeSH ID:D006945 | Hyperhidrosis +BMGC_DS20414,BMG_DS078432,MeSH ID:D006947 | Hyperkalemia +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,MONDO:0007778 | obsolete hypertelorism | OMIM ID:145400 | MeSH ID:D006972 | Hypertelorism +BMGC_DS20421,BMG_DS078439,MeSH ID:D006973 | Hypertension +BMGC_DS20422,BMG_DS078440,"Hypertension, Pulmonary | MeSH ID:D006976" +BMGC_DS20423,BMG_DS078441,"MeSH ID:D006977 | Hypertension, Renal" +BMGC_DS20424,BMG_DS078442,MeSH ID:D006984 | Hypertrophy +BMGC_DS20425,BMG_DS078443,Hyperventilation | MeSH ID:D006985 +BMGC_DS20426,BMG_DS078444,Hypesthesia | MeSH ID:D006987 +BMGC_DS20427,BMG_DS078445,MeSH ID:D006988 | Hyphema +BMGC_DS20428,BMG_DS078446,MeSH ID:D007008 | Hypokalemia +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,MeSH ID:D007119 | Immunoblastic Lymphadenopathy +BMGC_DS20434,BMG_DS078457,Immunoproliferative Disorders | MeSH ID:D007160 +BMGC_DS20435,BMG_DS078459,Erectile Dysfunction | MeSH ID:D007172 +BMGC_DS20436,BMG_DS078460,MeSH ID:D007184 | Incontinentia Pigmenti +BMGC_DS20437,BMG_DS078462,"MeSH ID:D007232 | Infant, Newborn, Diseases" +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,MeSH ID:D007249 | Inflammation +BMGC_DS20443,BMG_DS078468,MeSH ID:D007299 | Insect Bites and Stings +BMGC_DS20444,BMG_DS078469,MeSH ID:D007333 | Insulin Resistance +BMGC_DS20445,BMG_DS078470,MeSH ID:D007340 | Insulinoma +BMGC_DS20446,BMG_DS078471,MeSH ID:D007414 | Intestinal Neoplasms +BMGC_DS20447,BMG_DS078472,Intestinal Polyps | MeSH ID:D007417 +BMGC_DS20448,BMG_DS078473,MeSH ID:D007431 | Intraoperative Complications +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,MeSH ID:D007593 | Joint Instability +BMGC_DS20453,BMG_DS078484,Kearns-Sayre Syndrome | MeSH ID:D007625 +BMGC_DS20454,BMG_DS078485,MeSH ID:D007627 | Keloid +BMGC_DS20455,BMG_DS078486,MeSH ID:D007635 | DOID:0080158 | herpes simplex virus keratitis +BMGC_DS20456,BMG_DS078487,Keratoacanthoma | MeSH ID:D007636 +BMGC_DS20457,BMG_DS078488,MeSH ID:D007669 | Kidney Calculi +BMGC_DS20458,BMG_DS078489,MeSH ID:D007680 | Kidney Neoplasms +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,MeSH ID:D007767 | Lacrimal Duct Obstruction +BMGC_DS20463,BMG_DS078498,"lameness, non-human animal | MeSH ID:D007794 | MONDO:0024953 | Lameness, Animal" +BMGC_DS20464,BMG_DS078499,Language Disorders | MeSH ID:D007806 +BMGC_DS20465,BMG_DS078500,Laryngeal Edema | MeSH ID:D007819 +BMGC_DS20466,BMG_DS078501,MeSH ID:D007822 | Laryngeal Neoplasms +BMGC_DS20467,BMG_DS078503,MeSH ID:D007855 | Lead Poisoning | MONDO:0018019 | lead poisoning +BMGC_DS20468,BMG_DS078504,Learning Disabilities | MeSH ID:D007859 +BMGC_DS20469,BMG_DS078507,Legg-Calve-Perthes Disease | MeSH ID:D007873 +BMGC_DS20470,BMG_DS078508,MeSH ID:D007889 | Leiomyoma +BMGC_DS20471,BMG_DS078509,Leiomyosarcoma | MeSH ID:D007890 +BMGC_DS20472,BMG_DS078510,"Leishmaniasis, Mucocutaneous | MeSH ID:D007897" +BMGC_DS20473,BMG_DS078511,MeSH ID:D007938 | Leukemia +BMGC_DS20474,BMG_DS078512,Leukemia L1210 | MeSH ID:D007939 +BMGC_DS20475,BMG_DS078515,"MeSH ID:D007942 | Leukemia, Experimental" +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,"MeSH ID:D007948 | Leukemia, Monocytic, Acute" +BMGC_DS20480,BMG_DS078521,"Leukemia, Myeloid | MeSH ID:D007951" +BMGC_DS20481,BMG_DS078523,"Leukemia, Radiation-Induced | MeSH ID:D007953" +BMGC_DS20482,BMG_DS078525,"MeSH ID:D007972 | Leukoplakia, Oral" +BMGC_DS20483,BMG_DS078528,Leydig Cell Tumor | MeSH ID:D007984 +BMGC_DS20484,BMG_DS078529,Linitis Plastica | MeSH ID:D008039 +BMGC_DS20485,BMG_DS078531,MeSH ID:D008067 | Lipoma +BMGC_DS20486,BMG_DS078532,MeSH ID:D008080 | Liposarcoma +BMGC_DS20487,BMG_DS078533,"Liver Cirrhosis, Experimental | MeSH ID:D008106" +BMGC_DS20488,BMG_DS078534,Liver Diseases | MeSH ID:D008107 +BMGC_DS20489,BMG_DS078535,MeSH ID:D008113 | Liver Neoplasms +BMGC_DS20490,BMG_DS078536,"MeSH ID:D008114 | Liver Neoplasms, Experimental" +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,MeSH ID:D008175 | Lung Neoplasms +BMGC_DS20495,BMG_DS078547,"MeSH ID:D008179 | Lupus Erythematosus, Discoid" +BMGC_DS20496,BMG_DS078551,MeSH ID:D008207 | Lymphatic Metastasis +BMGC_DS20497,BMG_DS078552,MeSH ID:D008223 | Lymphoma +BMGC_DS20498,BMG_DS078553,"follicular lymphoma | DOID:0050873 | Lymphoma, Follicular | MeSH ID:D008224" +BMGC_DS20499,BMG_DS078554,"Lymphoma, Non-Hodgkin | MeSH ID:D008228" +BMGC_DS20500,BMG_DS078556,MeSH ID:D008232 | Lymphoproliferative Disorders +BMGC_DS20501,BMG_DS078557,MeSH ID:D008258 | MONDO:0005190 | Waldenstrom Macroglobulinemia | obsolete macroglobulinemia +BMGC_DS20502,BMG_DS078558,MeSH ID:D008265 | Macrostomia +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,"MeSH ID:D008325 | Mammary Neoplasms, Experimental" +BMGC_DS20507,BMG_DS078570,Mandibular Neoplasms | MeSH ID:D008339 +BMGC_DS20508,BMG_DS078572,Mastocytosis | MeSH ID:D008415 +BMGC_DS20509,BMG_DS078574,MeSH ID:D008441 | Maxillary Neoplasms +BMGC_DS20510,BMG_DS078575,MeSH ID:D008444 | Maxillary Sinus Neoplasms +BMGC_DS20511,BMG_DS078578,MeSH ID:D008479 | Mediastinal Neoplasms +BMGC_DS20512,BMG_DS078579,Medulloblastoma | MeSH ID:D008527 +BMGC_DS20513,BMG_DS078580,Megacolon | MeSH ID:D008531 +BMGC_DS20514,BMG_DS078582,MeSH ID:D008545 | Melanoma +BMGC_DS20515,BMG_DS078583,"MeSH ID:D008546 | Melanoma, Experimental" +BMGC_DS20516,BMG_DS078584,MeSH ID:D008551 | Melena +BMGC_DS20517,BMG_DS078585,MeSH ID:D008569 | Memory Disorders +BMGC_DS20518,BMG_DS078587,MeSH ID:D008579 | Meningioma +BMGC_DS20519,BMG_DS078588,Meningism | MeSH ID:D008580 +BMGC_DS20520,BMG_DS078590,MeSH ID:D008588 | Meningocele +BMGC_DS20521,BMG_DS078591,MeSH ID:D008591 | Meningomyelocele +BMGC_DS20522,BMG_DS078592,MeSH ID:D008595 | Menorrhagia +BMGC_DS20523,BMG_DS078593,Intellectual Disability | MeSH ID:D008607 +BMGC_DS20524,BMG_DS078594,MeSH ID:D008630 | mercury poisoning | MONDO:0018020 | Mercury Poisoning +BMGC_DS20525,BMG_DS078599,Mesothelioma | MeSH ID:D008654 +BMGC_DS20526,BMG_DS078600,MeSH ID:D008679 | Metaplasia +BMGC_DS20527,BMG_DS078601,MeSH ID:D008796 | Metrorrhagia +BMGC_DS20528,BMG_DS078602,MeSH ID:D008844 | Micrognathism +BMGC_DS20529,BMG_DS078603,Microphthalmos | MeSH ID:D008850 +BMGC_DS20530,BMG_DS078606,MeSH ID:D008998 | Monoclonal Gammopathy of Undetermined Significance +BMGC_DS20531,BMG_DS078607,MeSH ID:D009006 | Monosomy +BMGC_DS20532,BMG_DS078608,"Abnormalities, Severe Teratoid | MeSH ID:D009008" +BMGC_DS20533,BMG_DS078610,Morphine Dependence | MeSH ID:D009021 +BMGC_DS20534,BMG_DS078611,"MeSH ID:D009050 | Fluorosis, Dental" +BMGC_DS20535,BMG_DS078612,Mouth Abnormalities | MeSH ID:D009056 +BMGC_DS20536,BMG_DS078613,MeSH ID:D009058 | Mouth Breathing +BMGC_DS20537,BMG_DS078614,MeSH ID:D009062 | Mouth Neoplasms +BMGC_DS20538,BMG_DS078616,MeSH ID:D009078 | Mucocele +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,MeSH ID:D009127 | Muscle Rigidity +BMGC_DS20543,BMG_DS078622,MeSH ID:D009128 | Muscle Spasticity +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,MeSH ID:D009190 | Myelodysplastic Syndromes +BMGC_DS20548,BMG_DS078628,Myeloproliferative Disorders | MeSH ID:D009196 +BMGC_DS20549,BMG_DS078630,MONDO:0000866 | MeSH ID:D009212 | DOID:0080108 | Myoglobinuria | obsolete hereditary myoglobinuria | myoglobinuria +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,MeSH ID:D009298 | Nasal Polyps +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,MeSH ID:D009366 | Neoplasm Seeding +BMGC_DS20564,BMG_DS078650,MeSH ID:D009369 | Neoplasms +BMGC_DS20565,BMG_DS078652,MeSH ID:D009371 | Neoplasms by Site | organ system cancer | DOID:0050686 +BMGC_DS20566,BMG_DS078654,"MeSH ID:D009373 | obsolete germ cell and embryonal cancer | MONDO:0002510 | Neoplasms, Germ Cell and Embryonal" +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 | Multiple Endocrine Neoplasia | DOID:3125 | MeSH ID:D009377 +BMGC_DS20571,BMG_DS078662,"MeSH ID:D009381 | Neoplasms, Radiation-Induced" +BMGC_DS20572,BMG_DS078665,MeSH ID:D009385 | Neoplastic Processes +BMGC_DS20573,BMG_DS078667,"MeSH ID:D009389 | Neovascularization, Pathologic" +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,MeSH ID:D009442 | Neurilemmoma +BMGC_DS20578,BMG_DS078673,"MeSH ID:D009444 | Neuritis, Autoimmune, Experimental" +BMGC_DS20579,BMG_DS078674,Neuroblastoma | MeSH ID:D009447 +BMGC_DS20580,BMG_DS078675,MeSH ID:D009455 | Neurofibroma +BMGC_DS20581,BMG_DS078676,Neurofibromatosis 1 | MeSH ID:D009456 +BMGC_DS20582,BMG_DS078677,MeSH ID:D009461 | Neurologic Manifestations +BMGC_DS20583,BMG_DS078680,MeSH ID:D009506 | Nevus +BMGC_DS20584,BMG_DS078682,"Nevus, Pigmented | MeSH ID:D009508" +BMGC_DS20585,BMG_DS078684,"MeSH ID:D009667 | Nose Deformities, Acquired" +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,MeSH ID:D009839 | Oligomenorrhea +BMGC_DS20590,BMG_DS078696,Oropharyngeal Neoplasms | MeSH ID:D009959 +BMGC_DS20591,BMG_DS078697,"MeSH ID:D009999 | Ossification, Heterotopic" +BMGC_DS20592,BMG_DS078698,Osteolysis | MeSH ID:D010014 +BMGC_DS20593,BMG_DS078705,MeSH ID:D010051 | Ovarian Neoplasms +BMGC_DS20594,BMG_DS078707,"Paget Disease, Extramammary | cutaneous Paget's disease | cutaneous Paget disease | DOID:3450 | MONDO:0002655 | MeSH ID:D010145" +BMGC_DS20595,BMG_DS078708,MeSH ID:D010146 | Pain +BMGC_DS20596,BMG_DS078709,"MeSH ID:D010148 | Pain, Intractable" +BMGC_DS20597,BMG_DS078713,Exocrine Pancreatic Insufficiency | MeSH ID:D010188 +BMGC_DS20598,BMG_DS078714,MeSH ID:D010190 | Pancreatic Neoplasms +BMGC_DS20599,BMG_DS078715,MeSH ID:D010212 | Papilloma +BMGC_DS20600,BMG_DS078716,Paraganglioma | MeSH ID:D010235 +BMGC_DS20601,BMG_DS078717,"MeSH ID:D010236 | Paraganglioma, Extra-Adrenal" +BMGC_DS20602,BMG_DS078718,Paralysis | MeSH ID:D010243 +BMGC_DS20603,BMG_DS078720,MeSH ID:D010254 | Paranasal Sinus Diseases +BMGC_DS20604,BMG_DS078722,MeSH ID:D010257 | Paraneoplastic Syndromes +BMGC_DS20605,BMG_DS078723,MeSH ID:D010282 | Parathyroid Neoplasms +BMGC_DS20606,BMG_DS078728,"Pemphigoid, Bullous | MeSH ID:D010391" +BMGC_DS20607,BMG_DS078729,Penile Neoplasms | MeSH ID:D010412 +BMGC_DS20608,BMG_DS078730,MeSH ID:D010438 | MONDO:0004242 | Peptic Ulcer Hemorrhage | active peptic ulcer disease +BMGC_DS20609,BMG_DS078731,MeSH ID:D010468 | Perceptual Disorders +BMGC_DS20610,BMG_DS078735,Peritoneal Neoplasms | MeSH ID:D010534 +BMGC_DS20611,BMG_DS078736,Pharyngeal Neoplasms | MeSH ID:D010610 +BMGC_DS20612,BMG_DS078737,MeSH ID:D010623 | Phencyclidine Abuse +BMGC_DS20613,BMG_DS078738,Pheochromocytoma | MeSH ID:D010673 | DOID:0050771 | pheochromocytoma +BMGC_DS20614,BMG_DS078739,MeSH ID:D010677 | Philadelphia Chromosome +BMGC_DS20615,BMG_DS078741,MeSH ID:D010842 | Pica +BMGC_DS20616,BMG_DS078742,Pierre Robin Syndrome | MeSH ID:D010855 +BMGC_DS20617,BMG_DS078743,MeSH ID:D010864 | Pilonidal Sinus +BMGC_DS20618,BMG_DS078745,MeSH ID:D010911 | Pituitary Neoplasms +BMGC_DS20619,BMG_DS078746,MeSH ID:D010921 | Placenta Accreta +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,MeSH ID:D010996 | Pleural Effusion +BMGC_DS20624,BMG_DS078753,MeSH ID:D010997 | Pleural Neoplasms +BMGC_DS20625,BMG_DS078754,"MeSH ID:D011018 | Pneumonia, Pneumococcal" +BMGC_DS20626,BMG_DS078755,"Pneumonia, Pneumocystis | MeSH ID:D011020" +BMGC_DS20627,BMG_DS078756,Rothmund-Thomson Syndrome | MeSH ID:D011038 +BMGC_DS20628,BMG_DS078757,MONDO:0029000 | MeSH ID:D011041 | poisoning | Poisoning +BMGC_DS20629,BMG_DS078758,MeSH ID:D011087 | Polycythemia Vera +BMGC_DS20630,BMG_DS078759,MeSH ID:D011123 | Polyploidy +BMGC_DS20631,BMG_DS078760,MeSH ID:D011127 | Polyps +BMGC_DS20632,BMG_DS078761,Polyuria | MeSH ID:D011141 +BMGC_DS20633,BMG_DS078765,MeSH ID:D011183 | Postoperative Complications +BMGC_DS20634,BMG_DS078766,MeSH ID:D011225 | Pre-Eclampsia +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,"MeSH ID:D011271 | Pregnancy, Ectopic" +BMGC_DS20639,BMG_DS078773,"MeSH ID:D011273 | Pregnancy, Prolonged" +BMGC_DS20640,BMG_DS078776,Prenatal Exposure Delayed Effects | MeSH ID:D011297 +BMGC_DS20641,BMG_DS078780,MeSH ID:D011471 | Prostatic Neoplasms +BMGC_DS20642,BMG_DS078781,Proteinuria | MeSH ID:D011507 +BMGC_DS20643,BMG_DS078782,Pruritus | MeSH ID:D011537 +BMGC_DS20644,BMG_DS078787,MeSH ID:D011595 | Psychomotor Agitation +BMGC_DS20645,BMG_DS078788,Psychomotor Disorders | MeSH ID:D011596 +BMGC_DS20646,BMG_DS078789,MeSH ID:D011602 | Psychophysiologic Disorders +BMGC_DS20647,BMG_DS078791,"MeSH ID:D011605 | Psychoses, Substance-Induced" +BMGC_DS20648,BMG_DS078792,Pterygium | MeSH ID:D011625 +BMGC_DS20649,BMG_DS078793,"MeSH ID:D011628 | Puberty, Delayed" +BMGC_DS20650,BMG_DS078794,MeSH ID:D011654 | Pulmonary Edema +BMGC_DS20651,BMG_DS078795,MeSH ID:D011660 | Pulmonary Heart Disease +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,anal fistula | DOID:0060328 | MeSH ID:D012003 | Rectal Fistula +BMGC_DS20656,BMG_DS078808,MeSH ID:D012004 | Rectal Neoplasms +BMGC_DS20657,BMG_DS078810,MeSH ID:D012008 | Recurrence +BMGC_DS20658,BMG_DS078811,"Reflex, Abnormal | MeSH ID:D012021" +BMGC_DS20659,BMG_DS078813,MeSH ID:D012130 | Respiratory Hypersensitivity +BMGC_DS20660,BMG_DS078814,Respiratory Paralysis | MeSH ID:D012133 +BMGC_DS20661,BMG_DS078815,MeSH ID:D012135 | Respiratory Sounds +BMGC_DS20662,BMG_DS078817,MeSH ID:D012162 | Retinal Degeneration +BMGC_DS20663,BMG_DS078818,Retinal Hemorrhage | MeSH ID:D012166 +BMGC_DS20664,BMG_DS078819,Retinoblastoma | MeSH ID:D012175 +BMGC_DS20665,BMG_DS078820,MeSH ID:D012183 | Retrograde Degeneration +BMGC_DS20666,BMG_DS078821,Retroperitoneal Fibrosis | MeSH ID:D012185 +BMGC_DS20667,BMG_DS078822,MeSH ID:D012186 | Retroperitoneal Neoplasms +BMGC_DS20668,BMG_DS078824,MeSH ID:D012206 | obsolete rhabdomyolysis | MONDO:0005290 | Rhabdomyolysis +BMGC_DS20669,BMG_DS078825,MeSH ID:D012207 | Rhabdomyoma +BMGC_DS20670,BMG_DS078826,MeSH ID:D012208 | Rhabdomyosarcoma +BMGC_DS20671,BMG_DS078832,Rupture | MeSH ID:D012421 +BMGC_DS20672,BMG_DS078833,"MeSH ID:D012422 | Rupture, Spontaneous" +BMGC_DS20673,BMG_DS078836,Salivary Gland Neoplasms | MeSH ID:D012468 +BMGC_DS20674,BMG_DS078837,MeSH ID:D012478 | Salmonella Food Poisoning +BMGC_DS20675,BMG_DS078838,Salmonella Infections | MeSH ID:D012480 +BMGC_DS20676,BMG_DS078839,MeSH ID:D012509 | Sarcoma +BMGC_DS20677,BMG_DS078842,"MeSH ID:D012512 | Sarcoma, Ewing" +BMGC_DS20678,BMG_DS078843,"Sarcoma, Experimental | MeSH ID:D012513" +BMGC_DS20679,BMG_DS078844,"MeSH ID:D012514 | Sarcoma, Kaposi" +BMGC_DS20680,BMG_DS078846,Osteosarcoma | MeSH ID:D012516 +BMGC_DS20681,BMG_DS078850,MeSH ID:D012598 | Sclerosis +BMGC_DS20682,BMG_DS078851,MeSH ID:D012600 | Scoliosis +BMGC_DS20683,BMG_DS078852,MeSH ID:D012607 | Scotoma +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,MeSH ID:D012751 | Sezary Syndrome +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,MeSH ID:D012816 | Signs and Symptoms +BMGC_DS20694,BMG_DS078868,"Signs and Symptoms, Digestive | MeSH ID:D012817" +BMGC_DS20695,BMG_DS078869,"MeSH ID:D012818 | Signs and Symptoms, Respiratory" +BMGC_DS20696,BMG_DS078870,Situs Inversus | MeSH ID:D012857 +BMGC_DS20697,BMG_DS078871,Skin Abnormalities | MeSH ID:D012868 +BMGC_DS20698,BMG_DS078872,MeSH ID:D012871 | Skin Diseases +BMGC_DS20699,BMG_DS078873,MeSH ID:D012877 | Skin Manifestations +BMGC_DS20700,BMG_DS078874,Skin Neoplasms | MeSH ID:D012878 +BMGC_DS20701,BMG_DS078878,Sneezing | MeSH ID:D012912 +BMGC_DS20702,BMG_DS078880,MeSH ID:D012983 | Soft Tissue Neoplasms +BMGC_DS20703,BMG_DS078882,Spasm | MeSH ID:D013035 +BMGC_DS20704,BMG_DS078883,"MeSH ID:D013103 | Spherocytosis, Hereditary" +BMGC_DS20705,BMG_DS078884,MONDO:0043797 | MeSH ID:D013119 | spinal cord injury | Spinal Cord Injuries +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,"MeSH ID:D013167 | Spondylitis, Ankylosing" +BMGC_DS20710,BMG_DS078895,MeSH ID:D013217 | Starvation +BMGC_DS20711,BMG_DS078897,MeSH ID:D013274 | Stomach Neoplasms +BMGC_DS20712,BMG_DS078898,Stomach Ulcer | MeSH ID:D013276 +BMGC_DS20713,BMG_DS078900,MeSH ID:D013352 | Subcutaneous Emphysema +BMGC_DS20714,BMG_DS078903,MeSH ID:D013375 | Substance Withdrawal Syndrome +BMGC_DS20715,BMG_DS078904,OMIM ID:272120 | Sudden Infant Death | obsolete sudden infant death syndrome | MeSH ID:D013398 | MONDO:0010086 +BMGC_DS20716,BMG_DS078905,Sunburn | MeSH ID:D013471 +BMGC_DS20717,BMG_DS078907,MeSH ID:D013492 | Suppuration +BMGC_DS20718,BMG_DS078909,MeSH ID:D013530 | Surgical Wound Infection +BMGC_DS20719,BMG_DS078911,MeSH ID:D013544 | Sweat Gland Neoplasms +BMGC_DS20720,BMG_DS078912,"MeSH ID:D013568 | Pathological Conditions, Signs and Symptoms" +BMGC_DS20721,BMG_DS078913,Syndactyly | MeSH ID:D013576 +BMGC_DS20722,BMG_DS078916,"MeSH ID:D013584 | Sarcoma, Synovial" +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,MeSH ID:D013736 | Testicular Neoplasms +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,DOID:0060903 | Thrombosis | thrombosis | MeSH ID:D013927 +BMGC_DS20732,BMG_DS078931,Thymoma | MeSH ID:D013945 +BMGC_DS20733,BMG_DS078932,MeSH ID:D013953 | Thymus Neoplasms +BMGC_DS20734,BMG_DS078934,MeSH ID:D013964 | Thyroid Neoplasms +BMGC_DS20735,BMG_DS078935,"MeSH ID:D013967 | Thyroiditis, Autoimmune" +BMGC_DS20736,BMG_DS078937,MONDO:0005320 | MeSH ID:D013978 | tibia fracture | Tibial Fractures +BMGC_DS20737,BMG_DS078938,MeSH ID:D014029 | Tobacco Use Disorder +BMGC_DS20738,BMG_DS078939,Tongue Neoplasms | MeSH ID:D014062 +BMGC_DS20739,BMG_DS078943,MeSH ID:D014071 | Tooth Abnormalities +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,"MeSH ID:D014178 | Translocation, Genetic" +BMGC_DS20747,BMG_DS078960,MeSH ID:D014188 | Transposition of Great Vessels +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,"MeSH ID:D014339 | Truncus Arteriosus, Persistent" +BMGC_DS20753,BMG_DS078969,MeSH ID:D014402 | Tuberous Sclerosis +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,MeSH ID:D014515 | Ureteral Diseases +BMGC_DS20758,BMG_DS078976,MeSH ID:D014516 | Ureteral Neoplasms +BMGC_DS20759,BMG_DS078977,Ureteral Obstruction | MeSH ID:D014517 +BMGC_DS20760,BMG_DS078980,MeSH ID:D014545 | Urinary Calculi +BMGC_DS20761,BMG_DS078982,MeSH ID:D014549 | Urinary Incontinence +BMGC_DS20762,BMG_DS078983,Urinary Tract Infections | MeSH ID:D014552 | urinary tract infection | DOID:0080784 +BMGC_DS20763,BMG_DS078984,MeSH ID:D014564 | Urogenital Abnormalities +BMGC_DS20764,BMG_DS078985,Urogenital Neoplasms | MONDO:0025370 | obsolete urogenital neoplasm | MeSH ID:D014565 +BMGC_DS20765,BMG_DS078986,Urologic Neoplasms | MeSH ID:D014571 +BMGC_DS20766,BMG_DS078988,MeSH ID:D014592 | Uterine Hemorrhage +BMGC_DS20767,BMG_DS078990,MeSH ID:D014594 | Uterine Neoplasms +BMGC_DS20768,BMG_DS078992,MeSH ID:D014597 | Uterine Rupture +BMGC_DS20769,BMG_DS078994,"MeSH ID:D014606 | Uveitis, Anterior" +BMGC_DS20770,BMG_DS078996,Vaginal Neoplasms | MeSH ID:D014625 +BMGC_DS20771,BMG_DS078997,Varicose Veins | MeSH ID:D014648 +BMGC_DS20772,BMG_DS079000,MeSH ID:D014770 | Virilism +BMGC_DS20773,BMG_DS079002,Vomiting | MeSH ID:D014839 +BMGC_DS20774,BMG_DS079004,Vulvar Neoplasms | MeSH ID:D014846 +BMGC_DS20775,BMG_DS079005,MeSH ID:D014855 | Wallerian Degeneration +BMGC_DS20776,BMG_DS079006,MeSH ID:D014883 | Water-Electrolyte Imbalance +BMGC_DS20777,BMG_DS079007,Granulomatosis with Polyangiitis | MeSH ID:D014890 +BMGC_DS20778,BMG_DS079010,MeSH ID:D014947 | MONDO:0021178 | injury | Wounds and Injuries +BMGC_DS20779,BMG_DS079013,"MeSH ID:D014950 | Wounds, Penetrating" +BMGC_DS20780,BMG_DS079017,MeSH ID:D014983 | Xeroderma Pigmentosum +BMGC_DS20781,BMG_DS079024,MeSH ID:D015173 | Supratentorial Neoplasms +BMGC_DS20782,BMG_DS079026,MeSH ID:D015175 | Prolactinoma +BMGC_DS20783,BMG_DS079027,MeSH ID:D015179 | Colorectal Neoplasms +BMGC_DS20784,BMG_DS079029,"MeSH ID:D015207 | Osteoarthritis, Hip" +BMGC_DS20785,BMG_DS079030,MeSH ID:D015208 | Smoke Inhalation Injury +BMGC_DS20786,BMG_DS079031,"Carcinoma, Merkel Cell | MeSH ID:D015266" +BMGC_DS20787,BMG_DS079032,Churg-Strauss Syndrome | MeSH ID:D015267 +BMGC_DS20788,BMG_DS079033,MeSH ID:D015408 | Gastrinoma +BMGC_DS20789,BMG_DS079034,Reperfusion Injury | MONDO:0005203 | MeSH ID:D015427 | ischemia reperfusion injury +BMGC_DS20790,BMG_DS079035,MeSH ID:D015428 | Myocardial Reperfusion Injury +BMGC_DS20791,BMG_DS079036,Weight Gain | MeSH ID:D015430 +BMGC_DS20792,BMG_DS079037,MeSH ID:D015431 | Weight Loss +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,"MeSH ID:D015458 | Leukemia, T-Cell" +BMGC_DS20796,BMG_DS079044,"MeSH ID:D015459 | Leukemia-Lymphoma, Adult T-Cell" +BMGC_DS20797,BMG_DS079045,"MeSH ID:D015461 | Leukemia, Prolymphocytic, T-Cell" +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,"MeSH ID:D015470 | Leukemia, Myeloid, Acute" +BMGC_DS20801,BMG_DS079054,"MeSH ID:D015473 | Leukemia, Promyelocytic, Acute" +BMGC_DS20802,BMG_DS079055,"MeSH ID:D015477 | Leukemia, Myelomonocytic, Chronic" +BMGC_DS20803,BMG_DS079056,"MeSH ID:D015479 | Leukemia, Myelomonocytic, Acute" +BMGC_DS20804,BMG_DS079057,MeSH ID:D015529 | Choledochal Cyst +BMGC_DS20805,BMG_DS079058,Histiocytosis | MeSH ID:D015614 +BMGC_DS20806,BMG_DS079060,"Histiocytosis, Sinus | MeSH ID:D015618" +BMGC_DS20807,BMG_DS079061,MeSH ID:D015619 | Respiratory System Abnormalities +BMGC_DS20808,BMG_DS079063,Mycotoxicosis | MeSH ID:D015651 | MONDO:0042497 | mycotoxicosis +BMGC_DS20809,BMG_DS079064,"MeSH ID:D015674 | MONDO:0025483 | mammary neoplasms, animal | Mammary Neoplasms, Animal" +BMGC_DS20810,BMG_DS079067,"MeSH ID:D015745 | Granuloma, Foreign-Body" +BMGC_DS20811,BMG_DS079068,MeSH ID:D015746 | Abdominal Pain +BMGC_DS20812,BMG_DS079070,MeSH ID:D015783 | Aniridia +BMGC_DS20813,BMG_DS079071,Retinal Dysplasia | MeSH ID:D015792 +BMGC_DS20814,BMG_DS079074,"MeSH ID:D015819 | Substance Abuse, Intravenous" +BMGC_DS20815,BMG_DS079076,Osteochondroma | MeSH ID:D015831 +BMGC_DS20816,BMG_DS079079,Anisocoria | MeSH ID:D015875 +BMGC_DS20817,BMG_DS079080,MeSH ID:D015877 | Miosis +BMGC_DS20818,BMG_DS079081,MeSH ID:D015878 | Mydriasis +BMGC_DS20819,BMG_DS079082,Urinary Retention | MeSH ID:D016055 +BMGC_DS20820,BMG_DS079083,"MeSH ID:D016063 | Blood Loss, Surgical" +BMGC_DS20821,BMG_DS079085,MeSH ID:D016104 | Oligohydramnios +BMGC_DS20822,BMG_DS079086,"DOID:0050632 | oculocutaneous albinism | MeSH ID:D016115 | Albinism, Oculocutaneous" +BMGC_DS20823,BMG_DS079087,"ocular albinism 1 | MeSH ID:D016117 | DOID:0050633 | Albinism, Ocular" +BMGC_DS20824,BMG_DS079088,Spinal Dysraphism | MeSH ID:D016135 +BMGC_DS20825,BMG_DS079089,Spina Bifida Occulta | spina bifida occulta | DOID:0080073 | MeSH ID:D016136 +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,MeSH ID:D016156 | Respiratory Tract Fistula +BMGC_DS20830,BMG_DS079097,MeSH ID:D016388 | Tooth Loss +BMGC_DS20831,BMG_DS079098,"Lymphoma, B-Cell | MeSH ID:D016393" +BMGC_DS20832,BMG_DS079099,"MeSH ID:D016399 | Lymphoma, T-Cell" +BMGC_DS20833,BMG_DS079101,"diffuse large B-cell lymphoma | MeSH ID:D016403 | Lymphoma, Large B-Cell, Diffuse | DOID:0050745" +BMGC_DS20834,BMG_DS079102,"MeSH ID:D016410 | MONDO:0000607 | DOID:0060061 | primary cutaneous T-cell non-Hodgkin lymphoma | Lymphoma, T-Cell, Cutaneous" +BMGC_DS20835,BMG_DS079103,"Lymphoma, T-Cell, Peripheral | MeSH ID:D016411" +BMGC_DS20836,BMG_DS079105,MeSH ID:D016470 | Bacteremia +BMGC_DS20837,BMG_DS079106,"Lymphoma, AIDS-Related | MeSH ID:D016483" +BMGC_DS20838,BMG_DS079108,"Pemphigus, Benign Familial | MeSH ID:D016506" +BMGC_DS20839,BMG_DS079110,MeSH ID:D016518 | Neurofibromatosis 2 +BMGC_DS20840,BMG_DS079111,"MeSH ID:D016534 | Cardiac Output, High" +BMGC_DS20841,BMG_DS079112,MeSH ID:D016543 | Central Nervous System Neoplasms +BMGC_DS20842,BMG_DS079114,"Purpura, Thrombocytopenic, Idiopathic | MeSH ID:D016553" +BMGC_DS20843,BMG_DS079116,seasonal affective disorder | MeSH ID:D016574 | 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,"MeSH ID:D016757 | Death, Sudden, Cardiac" +BMGC_DS20847,BMG_DS079129,DOID:0080158 | MeSH ID:D016849 | herpes simplex virus keratitis +BMGC_DS20848,BMG_DS079130,MeSH ID:D016857 | Hypocapnia +BMGC_DS20849,BMG_DS079131,Endometrial Neoplasms | MeSH ID:D016889 +BMGC_DS20850,BMG_DS079133,MeSH ID:D017098 | IgA Deficiency +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,"MeSH ID:D017492 | Keratosis, Seborrheic" +BMGC_DS20856,BMG_DS079144,Hyperpigmentation | MeSH ID:D017495 +BMGC_DS20857,BMG_DS079145,MeSH ID:D017496 | Hypopigmentation +BMGC_DS20858,BMG_DS079147,MeSH ID:D017543 | Iliac Aneurysm +BMGC_DS20859,BMG_DS079148,"MeSH ID:D017544 | Aortic Aneurysm, Abdominal" +BMGC_DS20860,BMG_DS079149,"MeSH ID:D017545 | Aortic Aneurysm, Thoracic" +BMGC_DS20861,BMG_DS079153,MeSH ID:D017599 | Neuroectodermal Tumors +BMGC_DS20862,BMG_DS079155,MeSH ID:D017689 | Polydactyly +BMGC_DS20863,BMG_DS079158,"Lymphoma, Large-Cell, Anaplastic | MeSH ID:D017728" +BMGC_DS20864,BMG_DS079159,Lymphomatoid Papulosis | MeSH ID:D017731 +BMGC_DS20865,BMG_DS079164,"MeSH ID:D017880 | Limb Deformities, Congenital" +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,"MeSH ID:D018200 | Mixed Tumor, Mullerian" +BMGC_DS20870,BMG_DS079187,"MeSH ID:D018208 | Liposarcoma, Myxoid" +BMGC_DS20871,BMG_DS079190,"Chondrosarcoma, Mesenchymal | MeSH ID:D018211" +BMGC_DS20872,BMG_DS079191,MeSH ID:D018212 | Giant Cell Tumor of Bone +BMGC_DS20873,BMG_DS079192,"Neoplasms, Bone Tissue | MeSH ID:D018213" +BMGC_DS20874,BMG_DS079197,"MeSH ID:D018218 | Neoplasms, Fibrous Tissue" +BMGC_DS20875,BMG_DS079198,"Histiocytoma, Benign Fibrous | MeSH ID:D018219" +BMGC_DS20876,BMG_DS079200,"Fibromatosis, Abdominal | MeSH ID:D018221" +BMGC_DS20877,BMG_DS079201,MeSH ID:D018222 | Desmoid Tumors +BMGC_DS20878,BMG_DS079205,MeSH ID:D018226 | Fibroadenoma +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,"MeSH ID:D018233 | Rhabdomyosarcoma, Embryonal" +BMGC_DS20883,BMG_DS079213,"MeSH ID:D018234 | Sarcoma, Alveolar Soft Part" +BMGC_DS20884,BMG_DS079214,MeSH ID:D018235 | Smooth Muscle Tumor +BMGC_DS20885,BMG_DS079215,"MeSH ID:D018236 | Carcinoma, Embryonal" +BMGC_DS20886,BMG_DS079218,MeSH ID:D018239 | Seminoma +BMGC_DS20887,BMG_DS079219,Endodermal Sinus Tumor | MeSH ID:D018240 +BMGC_DS20888,BMG_DS079220,"MeSH ID:D018241 | Neuroectodermal Tumors, Primitive, Peripheral" +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,"MeSH ID:D018249 | Adenoma, Oxyphilic" +BMGC_DS20894,BMG_DS079233,MeSH ID:D018256 | Adenomatous Polyps +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,"MeSH ID:D018275 | Carcinoma, Lobular" +BMGC_DS20901,BMG_DS079245,"Carcinoma, Medullary | MeSH ID:D018276" +BMGC_DS20902,BMG_DS079246,"Carcinoma, Mucoepidermoid | MeSH ID:D018277" +BMGC_DS20903,BMG_DS079250,MeSH ID:D018281 | Cholangiocarcinoma +BMGC_DS20904,BMG_DS079256,"Carcinoma, Large Cell | MeSH ID:D018287" +BMGC_DS20905,BMG_DS079257,"Carcinoma, Small Cell | MeSH ID:D018288" +BMGC_DS20906,BMG_DS079264,MeSH ID:D018296 | Pilomatrixoma +BMGC_DS20907,BMG_DS079269,"Neoplasms, Mesothelial | MeSH ID:D018301" +BMGC_DS20908,BMG_DS079275,"MeSH ID:D018307 | Neoplasms, Squamous Cell" +BMGC_DS20909,BMG_DS079282,MeSH ID:D018316 | Gliosarcoma +BMGC_DS20910,BMG_DS079283,Nerve Sheath Neoplasms | MeSH ID:D018317 +BMGC_DS20911,BMG_DS079284,"MeSH ID:D018318 | Neurofibroma, Plexiform" +BMGC_DS20912,BMG_DS079285,Neurofibrosarcoma | MeSH ID:D018319 +BMGC_DS20913,BMG_DS079288,"Hemangioendothelioma, Epithelioid | MeSH ID:D018323" +BMGC_DS20914,BMG_DS079290,MeSH ID:D018325 | Hemangioblastoma +BMGC_DS20915,BMG_DS079291,MeSH ID:D018326 | Nevi and Melanomas +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,MeSH ID:D018358 | Neuroendocrine Tumors +BMGC_DS20920,BMG_DS079301,"MeSH ID:D018365 | Neoplasm, Residual" +BMGC_DS20921,BMG_DS079302,MeSH ID:D018376 | Cardiovascular Abnormalities +BMGC_DS20922,BMG_DS079305,"DOID:0050748 | marginal zone lymphoma | Lymphoma, B-Cell, Marginal Zone | MeSH ID:D018442" +BMGC_DS20923,BMG_DS079306,Disease Progression | MeSH ID:D018450 +BMGC_DS20924,BMG_DS079308,MeSH ID:D018476 | Hypokinesia +BMGC_DS20925,BMG_DS079309,"MeSH ID:D018487 | Ventricular Dysfunction, Left" +BMGC_DS20926,BMG_DS079310,MeSH ID:D018496 | Hyperoxia +BMGC_DS20927,BMG_DS079311,"Ventricular Dysfunction, Right | MeSH ID:D018497" +BMGC_DS20928,BMG_DS079312,"Breast Neoplasms, Male | MeSH ID:D018567" +BMGC_DS20929,BMG_DS079315,"MeSH ID:D018630 | Vitreoretinopathy, Proliferative" +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,MeSH ID:D018761 | Multiple Endocrine Neoplasia Type 1 +BMGC_DS20934,BMG_DS079321,DOID:0080169 | Tricuspid Atresia | tricuspid atresia | MeSH ID:D018785 +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,MeSH ID:D018814 | Multiple Endocrine Neoplasia Type 2b +BMGC_DS20938,BMG_DS079325,"MeSH ID:D018827 | Carcinoma, Lewis Lung" +BMGC_DS20939,BMG_DS079326,Ventricular Premature Complexes | MeSH ID:D018879 +BMGC_DS20940,BMG_DS079327,MeSH ID:D018882 | Heat Stress Disorders +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,MeSH ID:D019046 | Bone Marrow Neoplasms +BMGC_DS20945,BMG_DS079335,MeSH ID:D019048 | Prostatic Intraepithelial Neoplasia +BMGC_DS20946,BMG_DS079337,MeSH ID:D019066 | Facies +BMGC_DS20947,BMG_DS079338,MeSH ID:D019080 | Cafe-au-Lait Spots +BMGC_DS20948,BMG_DS079339,MeSH ID:D019106 | Postoperative Hemorrhage +BMGC_DS20949,BMG_DS079344,MeSH ID:D019310 | Pseudolymphoma +BMGC_DS20950,BMG_DS079346,Hematologic Neoplasms | MeSH ID:D019337 +BMGC_DS20951,BMG_DS079347,Port-Wine Stain | MeSH ID:D019339 +BMGC_DS20952,BMG_DS079348,MeSH ID:D019457 | Chromosome Breakage +BMGC_DS20953,BMG_DS079349,Craniofacial Abnormalities | MeSH ID:D019465 +BMGC_DS20954,BMG_DS079351,MeSH ID:D019547 | Neck Pain +BMGC_DS20955,BMG_DS079355,MeSH ID:D019578 | Multiple System Atrophy +BMGC_DS20956,BMG_DS079356,Hot Flashes | MeSH ID:D019584 +BMGC_DS20957,BMG_DS079357,MeSH ID:D019586 | Intracranial Hypertension +BMGC_DS20958,BMG_DS079358,"Aging, Premature | MeSH ID:D019588" +BMGC_DS20959,BMG_DS079361,Maxillofacial Abnormalities | MeSH ID:D019767 +BMGC_DS20960,BMG_DS079363,MeSH ID:D019954 | Neurobehavioral Manifestations +BMGC_DS20961,BMG_DS079364,Substance-Related Disorders | MeSH ID:D019966 +BMGC_DS20962,BMG_DS079365,Amphetamine-Related Disorders | MeSH ID:D019969 +BMGC_DS20963,BMG_DS079366,MeSH ID:D019970 | Cocaine-Related Disorders +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,MeSH ID:D020146 | Putaminal Hemorrhage +BMGC_DS20968,BMG_DS079374,MONDO:0017638 | manganese poisoning | Manganese Poisoning | MeSH ID:D020149 +BMGC_DS20969,BMG_DS079375,MeSH ID:D020163 | Ornithine Carbamoyltransferase Deficiency Disease +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,"MeSH ID:D020200 | Hematoma, Subdural, Chronic" +BMGC_DS20974,BMG_DS079383,"MeSH ID:D020201 | Brain Hemorrhage, Traumatic" +BMGC_DS20975,BMG_DS079392,Cerebrovascular Trauma | MeSH ID:D020214 | MONDO:0005621 | vascular brain injury +BMGC_DS20976,BMG_DS079395,MeSH ID:D020221 | Optic Nerve Injuries +BMGC_DS20977,BMG_DS079397,MeSH ID:D020230 | Serotonin Syndrome +BMGC_DS20978,BMG_DS079399,MeSH ID:D020234 | Gait Ataxia +BMGC_DS20979,BMG_DS079400,"MeSH ID:D020236 | Amnesia, Transient Global" +BMGC_DS20980,BMG_DS079404,MeSH ID:D020250 | Postoperative Nausea and Vomiting +BMGC_DS20981,BMG_DS079405,MeSH ID:D020256 | Choroidal Neovascularization +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,"MeSH ID:D020260 | Heavy Metal Poisoning, Nervous System" +BMGC_DS20985,BMG_DS079409,"MeSH ID:D020263 | Lead Poisoning, Nervous System" +BMGC_DS20986,BMG_DS079410,"Papilloma, Choroid Plexus | MeSH ID:D020288" +BMGC_DS20987,BMG_DS079411,MeSH ID:D020295 | Brain Stem Neoplasms +BMGC_DS20988,BMG_DS079413,MeSH ID:D020300 | obsolete intracranial hemorrhage | MONDO:0005049 | Intracranial Hemorrhages +BMGC_DS20989,BMG_DS079415,MeSH ID:D020323 | Tics +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,MeSH ID:D020514 | Hypokalemic Periodic Paralysis +BMGC_DS20996,BMG_DS079426,Fetal Weight | MeSH ID:D020567 +BMGC_DS20997,BMG_DS079429,Amaurosis Fugax | MeSH ID:D020757 +BMGC_DS20998,BMG_DS079430,"MeSH ID:D020763 | Pathological Conditions, Anatomical" +BMGC_DS20999,BMG_DS079432,"MeSH ID:D020786 | Hemangioma, Cavernous, Central Nervous System" +BMGC_DS21000,BMG_DS079435,Photophobia | MeSH ID:D020795 +BMGC_DS21001,BMG_DS079438,Neuromuscular Manifestations | MeSH ID:D020879 +BMGC_DS21002,BMG_DS079439,MeSH ID:D020896 | Hypovolemia +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 | MeSH ID:D021182 | Wheat Hypersensitivity | MONDO:0007021 +BMGC_DS21006,BMG_DS079445,Peanut Hypersensitivity | MeSH ID:D021183 | MONDO:0005902 | obsolete peanut allergic reaction +BMGC_DS21007,BMG_DS079446,"MeSH ID:D021441 | Carcinoma, Pancreatic Ductal" +BMGC_DS21008,BMG_DS079447,MeSH ID:D021501 | Flank Pain +BMGC_DS21009,BMG_DS079448,"MeSH ID:D021921 | Aortic Stenosis, Supravalvular" +BMGC_DS21010,BMG_DS079449,Hyperammonemia | MeSH ID:D022124 +BMGC_DS21011,BMG_DS079451,MeSH ID:D023341 | Chills +BMGC_DS21012,BMG_DS079452,chlamydia infectious disease | MeSH ID:D002690 | MeSH ID:D023521 | MONDO:0021697 +BMGC_DS21013,BMG_DS079453,"MeSH ID:D023961 | Gonadal Dysgenesis, 46,XX" +BMGC_DS21014,BMG_DS079458,"MeSH ID:D029502 | Anemia, Hypoplastic, Congenital" +BMGC_DS21015,BMG_DS079460,DOID:11166 | MeSH ID:D030361 | Human papillomavirus infectious disease | Papillomavirus Infections +BMGC_DS21016,BMG_DS079463,obsolete gestational trophoblastic disease | MeSH ID:D031901 | Gestational Trophoblastic Disease | MONDO:0016784 +BMGC_DS21017,BMG_DS079465,MeSH ID:D034381 | Hearing Loss +BMGC_DS21018,BMG_DS079466,"Mastocytosis, Systemic | MeSH ID:D034721" +BMGC_DS21019,BMG_DS079469,MONDO:0043230 | ciguatera fish poisoning | Ciguatera Poisoning | MeSH ID:D036841 +BMGC_DS21020,BMG_DS079472,"Lower Extremity Deformities, Congenital | MeSH ID:D038061" +BMGC_DS21021,BMG_DS079473,"MeSH ID:D038062 | Upper Extremity Deformities, Congenital" +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,"MeSH ID:D044584 | Carcinoma, Ductal" +BMGC_DS21029,BMG_DS079484,MeSH ID:D045262 | Reticulocytosis +BMGC_DS21030,BMG_DS079489,"MeSH ID:D046110 | Hypertension, Pregnancy-Induced" +BMGC_DS21031,BMG_DS079491,MeSH ID:D046152 | Gastrointestinal Stromal Tumors +BMGC_DS21032,BMG_DS079492,"Hernia, Abdominal | MeSH ID:D046449" +BMGC_DS21033,BMG_DS079497,"MeSH ID:D046748 | Hematoma, Epidural, Spinal" +BMGC_DS21034,BMG_DS079502,Premature Birth | MeSH ID:D047928 +BMGC_DS21035,BMG_DS079503,Hepatic Insufficiency | MeSH ID:D048550 +BMGC_DS21036,BMG_DS079504,"MeSH ID:D048629 | Micronuclei, Chromosome-Defective" +BMGC_DS21037,BMG_DS079507,"MeSH ID:D049068 | Plagiocephaly, Nonsynostotic" +BMGC_DS21038,BMG_DS079508,Prenatal Injuries | MeSH ID:D049188 +BMGC_DS21039,BMG_DS079514,MeSH ID:D049912 | Growth Hormone-Secreting Pituitary Adenoma +BMGC_DS21040,BMG_DS079515,MeSH ID:D049913 | ACTH-Secreting Pituitary Adenoma +BMGC_DS21041,BMG_DS079516,MeSH ID:D050177 | Overweight +BMGC_DS21042,BMG_DS079520,MeSH ID:D050497 | Stillbirth +BMGC_DS21043,BMG_DS079521,"MeSH ID:D050723 | MONDO:0005315 | bone fracture | Fractures, Bone" +BMGC_DS21044,BMG_DS079524,MeSH ID:D051299 | Post-Dural Puncture Headache +BMGC_DS21045,BMG_DS079525,MeSH ID:D051346 | Mobility Limitation +BMGC_DS21046,BMG_DS079526,"MeSH ID:D051474 | Neuralgia, Postherpetic" +BMGC_DS21047,BMG_DS079527,Hemospermia | MeSH ID:D051516 +BMGC_DS21048,BMG_DS079530,"Histiocytoma, Malignant Fibrous | MeSH ID:D051677" +BMGC_DS21049,BMG_DS079532,Mucositis | DOID:0080178 | MeSH ID:D052016 | mucositis +BMGC_DS21050,BMG_DS079537,Dysuria | MeSH ID:D053159 +BMGC_DS21051,BMG_DS079539,MeSH ID:D053206 | Nocturnal Enuresis +BMGC_DS21052,BMG_DS079541,"MeSH ID:D053358 | Ectodermal Dysplasia 1, Anhidrotic" +BMGC_DS21053,BMG_DS079542,"MeSH ID:D053360 | Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive" +BMGC_DS21054,BMG_DS079545,Ichthyosis Bullosa of Siemens | MeSH ID:D053560 +BMGC_DS21055,BMG_DS079546,MeSH ID:D053565 | Hypercalciuria +BMGC_DS21056,BMG_DS079550,MeSH ID:D053608 | Stupor +BMGC_DS21057,BMG_DS079551,Lethargy | MeSH ID:D053609 +BMGC_DS21058,BMG_DS079552,Aspermia | MeSH ID:D053714 +BMGC_DS21059,BMG_DS079554,MeSH ID:D053842 | Microsatellite Instability +BMGC_DS21060,BMG_DS079555,"MeSH ID:D054066 | Leukemia, Large Granular Lymphocytic" +BMGC_DS21061,BMG_DS079556,MeSH ID:D054079 | Vascular Malformations +BMGC_DS21062,BMG_DS079559,Lissencephaly | MeSH ID:D054082 +BMGC_DS21063,BMG_DS079562,MeSH ID:D054119 | Arachnodactyly +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,MeSH ID:D054318 | No-Reflow Phenomenon +BMGC_DS21068,BMG_DS079569,OMIM ID:305700 | Sertoli Cell-Only Syndrome | X-linked spermatogenic failure 1 | MONDO:0056795 | MeSH ID:D054331 +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,MONDO:0020077 | myelodysplastic/myeloproliferative disease | MeSH ID:D054437 | Myelodysplastic-Myeloproliferative Diseases +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,DOID:0080915 | Histiocytic Sarcoma | MeSH ID:D054747 | histiocytic sarcoma +BMGC_DS21076,BMG_DS079587,MeSH ID:D054969 | primary dysautonomia | Primary Dysautonomias | MONDO:0021809 +BMGC_DS21077,BMG_DS079588,MeSH ID:D054971 | Orthostatic Intolerance +BMGC_DS21078,BMG_DS079590,Pallister-Hall Syndrome | MeSH ID:D054975 +BMGC_DS21079,BMG_DS079591,MeSH ID:D055031 | Primary Graft Dysfunction +BMGC_DS21080,BMG_DS079594,MeSH ID:D055191 | Delayed Emergence from Anesthesia +BMGC_DS21081,BMG_DS079596,acute lung injury | Acute Lung Injury | MONDO:0015796 | MeSH ID:D055371 +BMGC_DS21082,BMG_DS079600,"MeSH ID:D055623 | Keratosis, Actinic" +BMGC_DS21083,BMG_DS079601,Muir-Torre Syndrome | MeSH ID:D055653 +BMGC_DS21084,BMG_DS079602,MeSH ID:D055728 | Primary Myelofibrosis +BMGC_DS21085,BMG_DS079603,MeSH ID:D055752 | Small Cell Lung Carcinoma +BMGC_DS21086,BMG_DS079605,MeSH ID:D055847 | Lynch Syndrome II +BMGC_DS21087,BMG_DS079614,"MeSH ID:D056128 | Obesity, Abdominal" +BMGC_DS21088,BMG_DS079616,Airway Remodeling | MeSH ID:D056151 +BMGC_DS21089,BMG_DS079622,Costello Syndrome | MeSH ID:D056685 +BMGC_DS21090,BMG_DS079623,MeSH ID:D056730 | Silver-Russell Syndrome +BMGC_DS21091,BMG_DS079624,MeSH ID:D056732 | Prolidase Deficiency +BMGC_DS21092,BMG_DS079625,MeSH ID:D056734 | Monilethrix +BMGC_DS21093,BMG_DS079626,MeSH ID:D056844 | Renal Colic +BMGC_DS21094,BMG_DS079628,Barth Syndrome | MeSH ID:D056889 +BMGC_DS21095,BMG_DS079634,Shellfish Poisoning | MeSH ID:D057096 +BMGC_DS21096,BMG_DS079637,MeSH ID:D057135 | Wet Macular Degeneration +BMGC_DS21097,BMG_DS079638,Frontotemporal Lobar Degeneration | MeSH ID:D057174 +BMGC_DS21098,BMG_DS079640,Frontotemporal Dementia | MeSH ID:D057180 +BMGC_DS21099,BMG_DS079642,MeSH ID:D057765 | Eosinophilic Esophagitis +BMGC_DS21100,BMG_DS079644,Vascular System Injuries | MeSH ID:D057772 +BMGC_DS21101,BMG_DS079656,MeSH ID:D057973 | Dent Disease +BMGC_DS21102,BMG_DS079657,"MeSH ID:D058225 | Plaque, Amyloid" +BMGC_DS21103,BMG_DS079658,"MeSH ID:D058226 | Plaque, Atherosclerotic" +BMGC_DS21104,BMG_DS079659,DOID:0050266 | MeSH ID:D058285 | Tungiasis | tungiasis +BMGC_DS21105,BMG_DS079661,MeSH ID:D058405 | Desmoplastic Small Round Cell Tumor +BMGC_DS21106,BMG_DS079662,MeSH ID:D058426 | Neointima +BMGC_DS21107,BMG_DS079664,MeSH ID:D058447 | Eye Pain +BMGC_DS21108,BMG_DS079665,MeSH ID:D058456 | Retinal Telangiectasis +BMGC_DS21109,BMG_DS079666,Sotos Syndrome | MeSH ID:D058495 +BMGC_DS21110,BMG_DS079667,MeSH ID:D058496 | DOID:0060768 | Smith-Magenis syndrome | Smith-Magenis Syndrome +BMGC_DS21111,BMG_DS079668,Fraser syndrome | DOID:0090001 | Fraser Syndrome | MeSH ID:D058497 +BMGC_DS21112,BMG_DS079669,MeSH ID:D058527 | Enteropathy-Associated T-Cell Lymphoma +BMGC_DS21113,BMG_DS079676,MeSH ID:D058627 | Megalencephaly +BMGC_DS21114,BMG_DS079682,MeSH ID:D058739 | Aberrant Crypt Foci +BMGC_DS21115,BMG_DS079683,MeSH ID:D058922 | Inflammatory Breast Neoplasms +BMGC_DS21116,BMG_DS079686,MeSH ID:D059226 | Nociceptive Pain +BMGC_DS21117,BMG_DS079688,Tachypnea | MeSH ID:D059246 +BMGC_DS21118,BMG_DS079691,DOID:0050581 | brachydactyly | MeSH ID:D059327 | Brachydactyly +BMGC_DS21119,BMG_DS079692,Peripheral Nerve Injuries | MeSH ID:D059348 +BMGC_DS21120,BMG_DS079693,Musculoskeletal Pain | MeSH ID:D059352 +BMGC_DS21121,BMG_DS079694,MeSH ID:D059373 | Mastodynia +BMGC_DS21122,BMG_DS079698,MeSH ID:D059445 | Anhedonia +BMGC_DS21123,BMG_DS079700,MeSH ID:D059606 | Polydipsia +BMGC_DS21124,BMG_DS079706,"Angina, Stable | MeSH ID:D060050" +BMGC_DS21125,BMG_DS079710,MeSH ID:D060705 | DOID:12568 | dyscalculia | Dyscalculia +BMGC_DS21126,BMG_DS079717,MeSH ID:D061085 | Agenesis of Corpus Callosum +BMGC_DS21127,BMG_DS079718,MeSH ID:D061205 | Vascular Calcification +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,MeSH ID:D062787 | Drug Overdose +BMGC_DS21134,BMG_DS079745,MeSH ID:D063130 | Maternal Death +BMGC_DS21135,BMG_DS079747,Retrognathia | MeSH ID:D063173 +BMGC_DS21136,BMG_DS079749,Binge Drinking | MeSH ID:D063425 +BMGC_DS21137,BMG_DS079752,MeSH ID:D063646 | Carcinogenesis +BMGC_DS21138,BMG_DS079753,MeSH ID:D063806 | Myalgia +BMGC_DS21139,BMG_DS079756,"MeSH ID:D064129 | DOID:0080909 | castration-resistant prostate carcinoma | Prostatic Neoplasms, Castration-Resistant" +BMGC_DS21140,BMG_DS079760,Chemically-Induced Disorders | MeSH ID:D064419 | obsolete chemically-induced disorder | MONDO:0029001 +BMGC_DS21141,BMG_DS079761,MeSH ID:D064420 | Drug-Related Side Effects and Adverse Reactions +BMGC_DS21142,BMG_DS079762,Triple Negative Breast Neoplasms | MeSH ID:D064726 +BMGC_DS21143,BMG_DS079765,MeSH ID:D064793 | Teratogenesis +BMGC_DS21144,BMG_DS079771,Corneal Injuries | MeSH ID:D065306 +BMGC_DS21145,BMG_DS079778,"Hernias, Diaphragmatic, Congenital | MeSH ID:D065630" +BMGC_DS21146,BMG_DS079779,"MeSH ID:D065631 | Rhinitis, Allergic" +BMGC_DS21147,BMG_DS079781,"MeSH ID:D065646 | Thyroid Carcinoma, Anaplastic" +BMGC_DS21148,BMG_DS079784,polymicrogyria | Polymicrogyria | MeSH ID:D065706 | DOID:0080918 +BMGC_DS21149,BMG_DS079785,Schizencephaly | MeSH ID:D065707 +BMGC_DS21150,BMG_DS079787,MeSH ID:D065817 | Congenital Microtia +BMGC_DS21151,BMG_DS079789,Perinatal Death | MeSH ID:D066087 +BMGC_DS21152,BMG_DS079790,MeSH ID:D066088 | Infant Death +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,OMIM ID:101900 | acrokeratosis verruciformis | DOID:0050606 +BMGC_DS21157,BMG_DS079797,OMIM ID:103050 | DOID:0050762 | adenylosuccinase lyase deficiency +BMGC_DS21158,BMG_DS079798,DOID:0080053 | OMIM ID:103580 | pseudohypoparathyroidism type 1A +BMGC_DS21159,BMG_DS079799,OMIM ID:103780 | alcohol dependence | DOID:0050741 +BMGC_DS21160,BMG_DS079800,Finnish type amyloidosis | DOID:0050637 | OMIM ID:105120 +BMGC_DS21161,BMG_DS079801,DOID:0070027 | OMIM ID:105150 | CST3-related cerebral amyloid angiopathy +BMGC_DS21162,BMG_DS079802,familial visceral amyloidosis | DOID:0050636 | OMIM ID:105200 +BMGC_DS21163,BMG_DS079803,DOID:0080964 | intracranial berry aneurysm 1 | OMIM ID:105800 +BMGC_DS21164,BMG_DS079804,OMIM ID:106100 | hereditary angioedema type I | DOID:0080939 +BMGC_DS21165,BMG_DS079805,OMIM ID:106190 | isolated anhidrosis with normal sweat glands | DOID:0060603 +BMGC_DS21166,BMG_DS079806,DOID:0070532 | OMIM ID:106210 | aniridia 1 +BMGC_DS21167,BMG_DS079807,OMIM ID:106300 | DOID:0080603 | ankylosing spondylitis 1 +BMGC_DS21168,BMG_DS079808,DOID:0080661 | nonsyndromic aplasia cutis congenita | OMIM ID:107600 +BMGC_DS21169,BMG_DS079809,DOID:0080676 | Stickler syndrome 1 | OMIM ID:108300 +BMGC_DS21170,BMG_DS079810,spermatogenic failure 2 | DOID:0070164 | OMIM ID:108420 +BMGC_DS21171,BMG_DS079811,spastic ataxia 1 | OMIM ID:108600 | DOID:0050772 +BMGC_DS21172,BMG_DS079812,spastic ataxia 7 | DOID:0050945 | OMIM ID:108650 +BMGC_DS21173,BMG_DS079813,atelosteogenesis | OMIM ID:108720 | OMIM ID:108721 | OMIM ID:256050 | DOID:0050648 +BMGC_DS21174,BMG_DS079814,androgenic alopecia | DOID:0050801 | OMIM ID:109200 | OMIM ID:612421 | OMIM ID:300710 +BMGC_DS21175,BMG_DS079815,DOID:0070365 | nevoid basal cell carcinoma syndrome 1 | OMIM ID:109400 +BMGC_DS21176,BMG_DS079816,primary biliary cholangitis 1 | OMIM ID:109720 | DOID:0070358 +BMGC_DS21177,BMG_DS079817,aortic valve disease 1 | OMIM ID:109730 | DOID:0080333 +BMGC_DS21178,BMG_DS079818,DOID:0110969 | brachydactyly type B1 | OMIM ID:113000 +BMGC_DS21179,BMG_DS079819,OMIM ID:113200 | brachydactyly type D | DOID:0110971 +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,OMIM ID:113650 | DOID:0111423 | branchiootorenal syndrome 1 +BMGC_DS21183,BMG_DS079823,DOID:0111074 | progressive familial heart block type IA | OMIM ID:113900 +BMGC_DS21184,BMG_DS079824,DOID:0050925 | OMIM ID:114900 | small intestine carcinoid neuroendocrine tumor +BMGC_DS21185,BMG_DS079825,OMIM ID:PS113900 | progressive familial heart block | OMIM ID:115080 | DOID:0111073 +BMGC_DS21186,BMG_DS079826,cardiofaciocutaneous syndrome 1 | DOID:0111460 | OMIM ID:115150 +BMGC_DS21187,BMG_DS079827,DOID:0110308 | OMIM ID:115195 | hypertrophic cardiomyopathy 2 +BMGC_DS21188,BMG_DS079828,hypertrophic cardiomyopathy 3 | DOID:0110309 | OMIM ID:115196 +BMGC_DS21189,BMG_DS079829,DOID:0110310 | OMIM ID:115197 | hypertrophic cardiomyopathy 4 +BMGC_DS21190,BMG_DS079830,dilated cardiomyopathy 1A | OMIM ID:115200 | DOID:0110425 +BMGC_DS21191,BMG_DS079831,DOID:0111425 | OMIM ID:115210 | restrictive cardiomyopathy 1 +BMGC_DS21192,BMG_DS079832,cerebral cavernous malformation 1 | DOID:0080491 | OMIM ID:116860 +BMGC_DS21193,BMG_DS079833,DOID:0110910 | OMIM ID:116920 | leukocyte adhesion deficiency 1 +BMGC_DS21194,BMG_DS079834,spinocerebellar ataxia type 31 | OMIM ID:117210 | DOID:0050980 +BMGC_DS21195,BMG_DS079835,OMIM ID:117300 | ITM2B-related cerebral amyloid angiopathy 2 | DOID:0070030 +BMGC_DS21196,BMG_DS079836,DOID:0050978 | spinocerebellar ataxia type 29 | OMIM ID:117360 +BMGC_DS21197,BMG_DS079837,OMIM ID:117550 | Sotos syndrome 1 | DOID:0112103 +BMGC_DS21198,BMG_DS079838,DOID:0080589 | Klippel-Feil syndrome 1 | OMIM ID:118100 +BMGC_DS21199,BMG_DS079839,familial chylomicronemia due to inhibition of lipoprotein lipase activity | OMIM ID:118830 | DOID:0111419 +BMGC_DS21200,BMG_DS079840,DOID:0111005 | cone-rod dystrophy 2 | OMIM ID:120970 +BMGC_DS21201,BMG_DS079841,OMIM ID:121210 | DOID:0111307 | familial febrile seizures 1 +BMGC_DS21202,BMG_DS079842,DOID:0080530 | OMIM ID:121900 | granular corneal dystrophy 1 +BMGC_DS21203,BMG_DS079843,DOID:0080505 | OMIM ID:122470 | Cornelia de Lange syndrome 1 +BMGC_DS21204,BMG_DS079844,warfarin resistance | OMIM ID:122700 | DOID:0080665 +BMGC_DS21205,BMG_DS079845,OMIM ID:122860 | DOID:0080807 | autosomal dominant craniodiaphyseal dysplasia +BMGC_DS21206,BMG_DS079846,DOID:0061010 | craniosynostosis 1 | OMIM ID:123100 +BMGC_DS21207,BMG_DS079847,DOID:0111338 | isolated elevated serum creatine phosphokinase levels | OMIM ID:123320 +BMGC_DS21208,BMG_DS079848,Beare-Stevenson cutis gyrata syndrome | OMIM ID:123790 | DOID:0050660 +BMGC_DS21209,BMG_DS079849,OMIM ID:124480 | autosomal dominant congenital deafness with onychodystrophy | DOID:0080720 +BMGC_DS21210,BMG_DS079850,nephrogenic diabetes insipidus type 2 | DOID:0081061 | OMIM ID:125800 +BMGC_DS21211,BMG_DS079851,DOID:0111099 | OMIM ID:125850 | maturity-onset diabetes of the young type 1 +BMGC_DS21212,BMG_DS079852,maturity-onset diabetes of the young type 2 | DOID:0111100 | OMIM ID:125851 +BMGC_DS21213,BMG_DS079853,DOID:0080723 | OMIM ID:127000 | Kenny-Caffey syndrome type 2 +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 | OMIM ID:130070 | DOID:0080738 +BMGC_DS21217,BMG_DS079857,OMIM ID:131750 | autosomal dominant dystrophic epidermolysis bullosa | DOID:0080224 +BMGC_DS21218,BMG_DS079858,epidermolysis bullosa simplex localized type | DOID:0080510 | OMIM ID:131800 +BMGC_DS21219,BMG_DS079859,DOID:0080988 | pretibial dystrophic epidermolysis bullosa | OMIM ID:131850 +BMGC_DS21220,BMG_DS079860,spinocerebellar ataxia type 34 | DOID:0050981 | OMIM ID:133190 +BMGC_DS21221,BMG_DS079861,OMIM ID:133540 | Cockayne syndrome B | DOID:0080908 +BMGC_DS21222,BMG_DS079862,DOID:0111823 | autosomal hemophilia A | OMIM ID:134500 +BMGC_DS21223,BMG_DS079863,DOID:0081015 | congenital fibrosis of the extraocular muscles 1 | OMIM ID:135700 +BMGC_DS21224,BMG_DS079864,OMIM ID:136000 | DOID:0111357 | adermatoglyphia +BMGC_DS21225,BMG_DS079865,OMIM ID:136760 | frontonasal dysplasia 1 | DOID:0081045 +BMGC_DS21226,BMG_DS079866,Gamstorp-Wohlfart syndrome | OMIM ID:137200 | DOID:0050526 +BMGC_DS21227,BMG_DS079867,DOID:0050909 | OMIM ID:137245 | extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue +BMGC_DS21228,BMG_DS079868,DOID:0050786 | OMIM ID:137600 | OMIM ID:601631 | iridogoniodysgenesis syndrome +BMGC_DS21229,BMG_DS079869,DOID:0111101 | maturity-onset diabetes of the young type 5 | OMIM ID:137920 +BMGC_DS21230,BMG_DS079870,OMIM ID:137940 | hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | DOID:0111360 +BMGC_DS21231,BMG_DS079871,OMIM ID:138800 | OMIM ID:300273 | OMIM ID:PS138800 | multinodular goiter | OMIM ID:606082 | DOID:0050489 +BMGC_DS21232,BMG_DS079872,OMIM ID:140700 | Heinz body anemia | DOID:0111363 +BMGC_DS21233,BMG_DS079873,benign familial hematuria | DOID:0111365 | OMIM ID:141200 +BMGC_DS21234,BMG_DS079874,DOID:0111366 | OMIM ID:142330 | familial hepatic adenoma +BMGC_DS21235,BMG_DS079875,developmental dysplasia of the hip 1 | OMIM ID:142700 | DOID:0060931 +BMGC_DS21236,BMG_DS079876,spondyloepiphyseal dysplasia with congenital joint dislocations | DOID:0050813 | OMIM ID:143095 +BMGC_DS21237,BMG_DS079877,DOID:0070552 | OMIM ID:144200 | epidermolytic palmoplantar keratoderma 1 +BMGC_DS21238,BMG_DS079878,OMIM ID:144650 | familial apolipoprotein A5 deficiency | DOID:0111421 +BMGC_DS21239,BMG_DS079879,nonpapillary renal cell carcinoma | OMIM ID:144700 | DOID:0050387 +BMGC_DS21240,BMG_DS079880,DOID:0111373 | OMIM ID:145250 | familial progressive hyperpigmentation with or without hypopigmentation +BMGC_DS21241,BMG_DS079881,OMIM ID:145420 | Teebi hypertelorism syndrome 1 | DOID:0080698 +BMGC_DS21242,BMG_DS079882,dystransthyretinemic hyperthyroxinemia | DOID:0080219 | OMIM ID:145680 +BMGC_DS21243,BMG_DS079883,Charcot-Marie-Tooth disease type 3 | OMIM ID:145900 | DOID:0050540 +BMGC_DS21244,BMG_DS079884,adult hypophosphatasia | DOID:0110913 | OMIM ID:146300 +BMGC_DS21245,BMG_DS079885,OMIM ID:146520 | hypotrichosis 2 | DOID:0110699 +BMGC_DS21246,BMG_DS079886,OMIM ID:146550 | DOID:0110701 | hypotrichosis 4 +BMGC_DS21247,BMG_DS079887,OMIM ID:147250 | DOID:0111380 | solitary median maxillary central incisor +BMGC_DS21248,BMG_DS079888,DOID:0080214 | OMIM ID:148600 | punctate palmoplantar keratoderma type I | OMIM ID:614936 +BMGC_DS21249,BMG_DS079889,Bart-Pumphrey syndrome | OMIM ID:149200 | DOID:0050658 +BMGC_DS21250,BMG_DS079890,lacrimoauriculodentodigital syndrome 1 | OMIM ID:149730 | DOID:0050331 +BMGC_DS21251,BMG_DS079891,DOID:0080548 | OMIM ID:151100 | Noonan syndrome with multiple lentigines 1 +BMGC_DS21252,BMG_DS079892,nonsyndromic congenital nail disorder 3 | OMIM ID:151600 | DOID:0080081 +BMGC_DS21253,BMG_DS079893,OMIM ID:151623 | Li-Fraumeni syndrome 1 | DOID:0111503 +BMGC_DS21254,BMG_DS079894,OMIM ID:153100 | DOID:0070210 | hereditary lymphedema IA +BMGC_DS21255,BMG_DS079895,age related macular degeneration 2 | DOID:0110015 | OMIM ID:153800 +BMGC_DS21256,BMG_DS079896,OMIM ID:154500 | Treacher Collins syndrome 1 | DOID:0080789 +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,DOID:0111199 | OMIM ID:158580 | autosomal dominant distal hereditary motor neuronopathy 7 +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 | OMIM ID:158901 | DOID:0111193 +BMGC_DS21263,BMG_DS079903,DOID:0050989 | OMIM ID:160120 | episodic ataxia type 1 +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 | OMIM ID:161050 | DOID:0080079 +BMGC_DS21268,BMG_DS079909,DOID:0110927 | OMIM ID:161800 | nemaline myopathy 3 +BMGC_DS21269,BMG_DS079910,familial juvenile hyperuricemic nephropathy | OMIM ID:613092 | OMIM ID:614227 | OMIM ID:162000 | DOID:0060062 +BMGC_DS21270,BMG_DS079911,DOID:0070152 | OMIM ID:162400 | hereditary sensory and autonomic neuropathy type 1A +BMGC_DS21271,BMG_DS079912,OMIM ID:163100 | stork bite | DOID:5806 +BMGC_DS21272,BMG_DS079913,congenital nystagmus 2 | OMIM ID:164100 | DOID:0111792 +BMGC_DS21273,BMG_DS079914,DOID:0050954 | OMIM ID:164400 | spinocerebellar ataxia type 1 +BMGC_DS21274,BMG_DS079915,OMIM ID:164500 | DOID:0050958 | spinocerebellar ataxia type 7 +BMGC_DS21275,BMG_DS079916,DOID:0080083 | nonsyndromic congenital nail disorder 5 | OMIM ID:164800 +BMGC_DS21276,BMG_DS079918,DOID:0111441 | OMIM ID:165500 | optic atrophy 1 +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,OMIM ID:173900 | polycystic kidney disease 1 | DOID:0110858 +BMGC_DS21279,BMG_DS079921,OMIM ID:174050 | polycystic liver disease 1 | DOID:0060980 +BMGC_DS21280,BMG_DS079922,OMIM ID:174400 | DOID:0060987 | preaxial polydactyly I +BMGC_DS21281,BMG_DS079923,OMIM ID:174500 | preaxial polydactyly II | DOID:0060986 +BMGC_DS21282,BMG_DS079924,DOID:0060985 | preaxial polydactyly type IV | OMIM ID:174700 +BMGC_DS21283,BMG_DS079925,OMIM ID:175050 | juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome | DOID:0111543 +BMGC_DS21284,BMG_DS079926,DOID:0080409 | familial adenomatous polyposis 1 | OMIM ID:175100 +BMGC_DS21285,BMG_DS079927,OMIM ID:175780 | brain small vessel disease 1 | DOID:0090125 +BMGC_DS21286,BMG_DS079928,OMIM ID:175860 | DOID:0080213 | punctate palmoplantar keratoderma type II +BMGC_DS21287,BMG_DS079929,DOID:0070029 | OMIM ID:176500 | ITM2B-related cerebral amyloid angiopathy 1 +BMGC_DS21288,BMG_DS079930,DOID:0111286 | psoriasis 1 | OMIM ID:177900 +BMGC_DS21289,BMG_DS079931,"contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | DOID:0081321 | OMIM ID:178110" +BMGC_DS21290,BMG_DS079932,DOID:0111547 | OMIM ID:180000 | retinal arterial tortuosity +BMGC_DS21291,BMG_DS079933,DOID:0070077 | OMIM ID:181510 | schizophrenia 1 +BMGC_DS21292,BMG_DS079934,DOID:0110916 | hereditary spherocytosis type 1 | OMIM ID:182900 +BMGC_DS21293,BMG_DS079935,spinocerebellar ataxia type 6 | DOID:0050956 | OMIM ID:183086 +BMGC_DS21294,BMG_DS079936,DOID:0050955 | spinocerebellar ataxia type 2 | OMIM ID:183090 +BMGC_DS21295,BMG_DS079937,OMIM ID:184100 | autosomal dominant spondyloepiphyseal dysplasia tarda | DOID:0112285 +BMGC_DS21296,BMG_DS079938,"DOID:0080028 | OMIM ID:184250 | spondyloepimetaphyseal dysplasia, Strudwick type" +BMGC_DS21297,BMG_DS079939,"DOID:0080677 | otospondylomegaepiphyseal dysplasia, autosomal dominant | OMIM ID:184840" +BMGC_DS21298,BMG_DS079940,overhydrated hereditary stomatocytosis | OMIM ID:185000 | DOID:0111562 +BMGC_DS21299,BMG_DS079941,DOID:0111816 | OMIM ID:185900 | syndactyly type 1 +BMGC_DS21300,BMG_DS079942,multiple synostoses syndrome 1 | OMIM ID:186500 | DOID:0081317 +BMGC_DS21301,BMG_DS079943,DOID:0080774;DOID:0080771 | beta-thalassemia major | OMIM ID:187550 | thalassemia minor +BMGC_DS21302,BMG_DS079944,DOID:0080701 | OMIM ID:188050 | prothrombin thrombophilia +BMGC_DS21303,BMG_DS079945,esophageal atresia/tracheoesophageal fistula | OMIM ID:189960 | DOID:0080171 +BMGC_DS21304,BMG_DS079946,familial isolated trichomegaly | OMIM ID:190330 | DOID:0111566 +BMGC_DS21305,BMG_DS079947,trichorhinophalangeal syndrome type III | OMIM ID:190351 | DOID:0080376 +BMGC_DS21306,BMG_DS079948,OMIM ID:191700 | uric acid urolithiasis | DOID:0080654 +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,DOID:0070483 | OMIM ID:193520 | Watson syndrome +BMGC_DS21310,BMG_DS079952,OMIM ID:193700 | distal arthrogryposis type 2A | DOID:0111605 +BMGC_DS21311,BMG_DS079953,DOID:0111573 | OMIM ID:194300 | autosomal dominant woolly hair +BMGC_DS21312,BMG_DS079954,OMIM ID:200500 | DOID:0050603 | acheiropody +BMGC_DS21313,BMG_DS079955,achondrogenesis type IA | DOID:0080054 | OMIM ID:200600 +BMGC_DS21314,BMG_DS079956,"acromesomelic dysplasia, Grebe type | OMIM ID:200700 | DOID:0080052" +BMGC_DS21315,BMG_DS079957,"DOID:0080051 | acromesomelic dysplasia, Hunter-Thompson type | OMIM ID:201250" +BMGC_DS21316,BMG_DS079958,OMIM ID:201300 | hereditary sensory and autonomic neuropathy type 2A | DOID:0070155 +BMGC_DS21317,BMG_DS079959,OMIM ID:201470 | short chain acyl-CoA dehydrogenase deficiency | DOID:0080154 +BMGC_DS21318,BMG_DS079960,very long chain acyl-CoA dehydrogenase deficiency | DOID:0080155 | OMIM ID:201475 +BMGC_DS21319,BMG_DS079961,DOID:0080621 | OMIM ID:202200 | glucocorticoid deficiency 1 +BMGC_DS21320,BMG_DS079962,peroxisome biogenesis disorder 2B | DOID:0080622 | OMIM ID:202370 +BMGC_DS21321,BMG_DS079963,OMIM ID:202700 | severe congenital neutropenia 1 | DOID:0080625 +BMGC_DS21322,BMG_DS079964,DOID:0070094 | OMIM ID:203100 | oculocutaneous albinism type IA +BMGC_DS21323,BMG_DS079965,DOID:0060539 | Hermansky-Pudlak syndrome 1 | OMIM ID:203300 +BMGC_DS21324,BMG_DS079966,DOID:0080626 | corticosterone methyloxidase deficiency 1 | OMIM ID:203400 +BMGC_DS21325,BMG_DS079967,alopecia-mental retardation syndrome 1 | DOID:0080628 | OMIM ID:203650 +BMGC_DS21326,BMG_DS079968,OMIM ID:204750 | 2-aminoadipic 2-oxoadipic aciduria | DOID:0111453 +BMGC_DS21327,BMG_DS079969,juvenile amyotrophic lateral sclerosis with dementia | DOID:0110067 | OMIM ID:205200 +BMGC_DS21328,BMG_DS079970,OMIM ID:206000 | DOID:0060066 | pyridoxine-responsive sideroblastic anemia +BMGC_DS21329,BMG_DS079971,OMIM ID:206100 | DOID:0050642 | hypochromic microcytic anemia | OMIM ID:615234 +BMGC_DS21330,BMG_DS079972,OMIM ID:207410 | DOID:0081290 | Antley-Bixler syndrome without disordered steroidogenesis +BMGC_DS21331,BMG_DS079973,"OMIM ID:208085 | DOID:0111353 | arthrogryposis, renal dysfunction, and cholestasis 1" +BMGC_DS21332,BMG_DS079974,DOID:0111377 | fetal akinesia deformation sequence syndrome 1 | OMIM ID:208150 +BMGC_DS21333,BMG_DS079975,DOID:0050649 | OMIM ID:209300 | atransferrinemia +BMGC_DS21334,BMG_DS079976,DOID:0080756 | OMIM ID:209700 | atrophoderma vermiculata +BMGC_DS21335,BMG_DS079977,Elsahy-Waters syndrome | OMIM ID:211380 | DOID:0080631 +BMGC_DS21336,BMG_DS079978,Fazio-Londe disease | DOID:0080632 | OMIM ID:211500 +BMGC_DS21337,BMG_DS079979,OMIM ID:211530 | DOID:0080785 | Brown-Vialetto-Van Laere syndrome 1 +BMGC_DS21338,BMG_DS079980,DOID:0111582 | hereditary arterial and articular multiple calcification syndrome | OMIM ID:211800 +BMGC_DS21339,BMG_DS079981,congenital disorder of glycosylation Ia | DOID:0080552 | OMIM ID:212065 +BMGC_DS21340,BMG_DS079982,OMIM ID:212550 | optic disc anomalies with retinal and/or macular dystrophy | DOID:0080635 +BMGC_DS21341,BMG_DS079983,Joubert syndrome 1 | OMIM ID:213300 | DOID:0110980 +BMGC_DS21342,BMG_DS079984,cerebrooculofacioskeletal syndrome 1 | DOID:0080911 | OMIM ID:214150 +BMGC_DS21343,BMG_DS079985,OMIM ID:214300 | DOID:0080590 | Klippel-Feil syndrome 2 +BMGC_DS21344,BMG_DS079986,metaphyseal dysplasia | DOID:0080019 | OMIM ID:215050 +BMGC_DS21345,BMG_DS079987,classic citrullinemia | OMIM ID:215700 | DOID:0070340 +BMGC_DS21346,BMG_DS079988,Cockayne syndrome A | DOID:0080907 | OMIM ID:216400 +BMGC_DS21347,BMG_DS079989,DOID:0060649 | congenital hereditary endothelial dystrophy of cornea | OMIM ID:217700 +BMGC_DS21348,BMG_DS079990,DOID:0080802 | OMIM ID:218400 | autosomal recessive craniometaphyseal dysplasia +BMGC_DS21349,BMG_DS079991,ACTH-independent macronodular adrenal hyperplasia 1 | OMIM ID:219080 | DOID:0111623 +BMGC_DS21350,BMG_DS079992,DOID:0111752 | OMIM ID:221745 | autosomal-mitochondrial sensorineural deafness +BMGC_DS21351,BMG_DS079993,OMIM ID:221750 | combined pituitary hormone deficiency 3 | DOID:0061021 +BMGC_DS21352,BMG_DS079994,DOID:0111630 | familial erythrocytosis 8 | OMIM ID:222800 +BMGC_DS21353,BMG_DS079995,DOID:0111167 | Dyggve-Melchior-Clausen disease | OMIM ID:223800 +BMGC_DS21354,BMG_DS079996,"OMIM ID:225280 | ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | DOID:0111649" +BMGC_DS21355,BMG_DS079997,OMIM ID:225320 | DOID:0080730 | Ehlers-Danlos syndrome cardiac valvular type +BMGC_DS21356,BMG_DS079998,DOID:0080734 | Ehlers-Danlos syndrome kyphoscoliotic type 1 | OMIM ID:225400 +BMGC_DS21357,BMG_DS079999,OMIM ID:227650 | Fanconi anemia complementation group A | DOID:0111095 +BMGC_DS21358,BMG_DS080000,infantile myofibromatosis | OMIM ID:228550 | OMIM ID:615293 | DOID:0080109 +BMGC_DS21359,BMG_DS080001,GM1 gangliosidosis type 1 | OMIM ID:230500 | DOID:0080502 +BMGC_DS21360,BMG_DS080002,OMIM ID:230600 | DOID:0080501 | GM1 gangliosidosis type 2 +BMGC_DS21361,BMG_DS080003,DOID:0080489 | GM1 gangliosidosis type 3 | 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,DOID:0112251 | OMIM ID:231095 | Ghosal hematodiaphyseal syndrome +BMGC_DS21365,BMG_DS080007,triple-A syndrome | OMIM ID:231550 | DOID:0050602 +BMGC_DS21366,BMG_DS080008,DOID:0112246 | OMIM ID:231690 | glutaric acidemia type 3 +BMGC_DS21367,BMG_DS080009,DOID:0112252 | OMIM ID:231900 | congenital nonspherocytic hemolytic anemia 6 +BMGC_DS21368,BMG_DS080010,glycogen storage disease Ia | OMIM ID:232200 | DOID:2749 +BMGC_DS21369,BMG_DS080011,OMIM ID:232220 | glycogen storage disease Ib | DOID:0081330 +BMGC_DS21370,BMG_DS080012,DOID:0080493 | OMIM ID:233300 | ovarian dysgenesis 1 +BMGC_DS21371,BMG_DS080013,OMIM ID:PS233400 | OMIM ID:614926 | OMIM ID:615300 | DOID:0050857 | OMIM ID:614129 | Perrault syndrome | OMIM ID:233400 +BMGC_DS21372,BMG_DS080014,"DOID:0111774 | 46,XY sex reversal 7 | OMIM ID:233420" +BMGC_DS21373,BMG_DS080015,DOID:0070192 | OMIM ID:233700 | autosomal recessive chronic granulomatous disease 1 +BMGC_DS21374,BMG_DS080016,DOID:0070191 | OMIM ID:233710 | autosomal recessive chronic granulomatous disease 2 +BMGC_DS21375,BMG_DS080017,OMIM ID:233910 | DOID:0112225 | BH4-deficient hyperphenylalaninemia B +BMGC_DS21376,BMG_DS080018,nonphotosensitive trichothiodystrophy 4 | DOID:0050528 | OMIM ID:234050 +BMGC_DS21377,BMG_DS080019,OMIM ID:236100 | DOID:0110881 | holoprosencephaly 1 +BMGC_DS21378,BMG_DS080020,OMIM ID:236270 | homocystinuria-megaloblastic anemia cblE type | DOID:0112255 +BMGC_DS21379,BMG_DS080021,"multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly | OMIM ID:236500 | DOID:0080327" +BMGC_DS21380,BMG_DS080022,OMIM ID:236670 | congenital muscular dystrophy-dystroglycanopathy type A1 | DOID:0111237 +BMGC_DS21381,BMG_DS080023,OMIM ID:237310 | N-acetylglutamate synthase deficiency | DOID:0112258 +BMGC_DS21382,BMG_DS080024,OMIM ID:238320 | DOID:0112260 | Leydig cell hypoplasia type I +BMGC_DS21383,BMG_DS080025,OMIM ID:238970 | ornithine translocase deficiency | DOID:0050720 +BMGC_DS21384,BMG_DS080026,DOID:0081368 | Paget's disease of bone 5 | OMIM ID:239000 +BMGC_DS21385,BMG_DS080027,OMIM ID:239100 | DOID:0080036 | SOST-related sclerosing bone dysplasia +BMGC_DS21386,BMG_DS080028,DOID:0080542 | OMIM ID:239500 | hyperprolinemia type 1 +BMGC_DS21387,BMG_DS080029,DOID:0050167 | OMIM ID:240300 | autoimmune polyendocrine syndrome type 1 +BMGC_DS21388,BMG_DS080030,DOID:0112262 | OMIM ID:240800 | leucine-sensitive hypoglycemia of infancy +BMGC_DS21389,BMG_DS080031,infantile hypophosphatasia | DOID:0110914 | OMIM ID:241500 +BMGC_DS21390,BMG_DS080032,DOID:0110915 | childhood hypophosphatasia | OMIM ID:241510 +BMGC_DS21391,BMG_DS080033,autosomal recessive hypophosphatemic rickets | OMIM ID:241520 | DOID:0050949 | OMIM ID:613312 +BMGC_DS21392,BMG_DS080034,OMIM ID:241850 | Bamforth-Lazarus syndrome | DOID:0050655 +BMGC_DS21393,BMG_DS080035,DOID:0080679 | OMIM ID:243180 | neuronal intestinal dysplasia type A +BMGC_DS21394,BMG_DS080036,OMIM ID:243300 | benign recurrent intrahepatic cholestasis 1 | DOID:0070231 +BMGC_DS21395,BMG_DS080037,familial lipase maturation factor 1 deficiency | OMIM ID:246650 | DOID:0111422 +BMGC_DS21396,BMG_DS080038,DOID:0060577 | OMIM ID:248340 | 3MC syndrome 3 +BMGC_DS21397,BMG_DS080039,OMIM ID:248370 | mandibuloacral dysplasia type A lipodystrophy | DOID:0081128 +BMGC_DS21398,BMG_DS080040,DOID:0080791 | Treacher Collins syndrome 3 | OMIM ID:248390 +BMGC_DS21399,BMG_DS080041,OMIM ID:248800 | DOID:0080195 | Marinesco-Sjogren syndrome +BMGC_DS21400,BMG_DS080042,DOID:0081177 | autosomal recessive intellectual developmental disorder 1 | OMIM ID:249500 +BMGC_DS21401,BMG_DS080043,OMIM ID:250620 | 3-hydroxyisobutryl-CoA hydrolase deficiency | DOID:0060949 +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,OMIM ID:251230 | microcephaly-micromelia syndrome | DOID:0081432 +BMGC_DS21405,BMG_DS080047,OMIM ID:252100 | DOID:0060959 | orofaciodigital syndrome II +BMGC_DS21406,BMG_DS080048,mucolipidosis II alpha/beta | OMIM ID:252500 | DOID:0080070 +BMGC_DS21407,BMG_DS080049,OMIM ID:252600 | DOID:0080071 | mucolipidosis III alpha/beta +BMGC_DS21408,BMG_DS080050,OMIM ID:252650 | DOID:0080490 | mucolipidosis type IV +BMGC_DS21409,BMG_DS080051,DOID:0050559 | Fukuyama congenital muscular dystrophy | OMIM ID:253800 +BMGC_DS21410,BMG_DS080052,Miyoshi muscular dystrophy 1 | DOID:0070199 | OMIM ID:254130 +BMGC_DS21411,BMG_DS080053,DOID:0110671 | OMIM ID:254210 | congenital myasthenic syndrome 6 +BMGC_DS21412,BMG_DS080054,congenital myasthenic syndrome 10 | DOID:0110668 | OMIM ID:254300 +BMGC_DS21413,BMG_DS080055,progressive myoclonus epilepsy 1A | OMIM ID:254800 | DOID:0111452 +BMGC_DS21414,BMG_DS080056,DOID:0111268 | autosomal recessive hyaline body myopathy | OMIM ID:255160 +BMGC_DS21415,BMG_DS080057,Becker disease | OMIM ID:255300 | DOID:0081335 | OMIM ID:255700 +BMGC_DS21416,BMG_DS080058,congenital myopathy 4A | OMIM ID:255310 | DOID:0080102 +BMGC_DS21417,BMG_DS080059,DOID:0080991 | congenital myopathy 1B | OMIM ID:255320 +BMGC_DS21418,BMG_DS080060,OMIM ID:256100 | nephronophthisis 1 | DOID:0111112 +BMGC_DS21419,BMG_DS080061,OMIM ID:256450 | familial hyperinsulinemic hypoglycemia 1 | DOID:0070219 +BMGC_DS21420,BMG_DS080062,DOID:0070160 | OMIM ID:256860 | atypical hereditary sensory neuropathy +BMGC_DS21421,BMG_DS080063,DOID:0080141 | mosaic variegated aneuploidy syndrome 1 | OMIM ID:257300 +BMGC_DS21422,BMG_DS080064,"DOID:0080849 | ocular motor apraxia, Cogan type | OMIM ID:257550" +BMGC_DS21423,BMG_DS080065,3MC syndrome 1 | DOID:0060575 | OMIM ID:257920 +BMGC_DS21424,BMG_DS080066,OMIM ID:258040 | bladder exstrophy-epispadias-cloacal exstrophy complex | cloacal exstrophy | DOID:0080175;DOID:0080173 +BMGC_DS21425,BMG_DS080067,OMIM ID:258100 | Oguchi disease-1 | DOID:0110712 +BMGC_DS21426,BMG_DS080068,DOID:0070188 | spermatogenic failure 1 | OMIM ID:258150 +BMGC_DS21427,BMG_DS080069,OMIM ID:258501 | DOID:0110004 | 3-methylglutaconic aciduria type 3 +BMGC_DS21428,BMG_DS080070,autosomal recessive osteopetrosis 1 | OMIM ID:259700 | DOID:0110942 +BMGC_DS21429,BMG_DS080071,OMIM ID:259710 | autosomal recessive osteopetrosis 2 | DOID:0110943 +BMGC_DS21430,BMG_DS080072,DOID:0110939 | OMIM ID:259720 | autosomal recessive osteopetrosis 5 +BMGC_DS21431,BMG_DS080073,DOID:0060372 | Parkinson's disease 15 | OMIM ID:260300 +BMGC_DS21432,BMG_DS080074,hyperimmunoglobulinemia D periodic fever syndrome | OMIM ID:260920 | DOID:0081450 +BMGC_DS21433,BMG_DS080075,DOID:0050734 | OMIM ID:261000 | congenital intrinsic factor deficiency +BMGC_DS21434,BMG_DS080076,Peters plus syndrome | DOID:0080201 | OMIM ID:261540 +BMGC_DS21435,BMG_DS080077,DOID:0081130 | OMIM ID:261630 | BH4-deficient hyperphenylalaninemia C +BMGC_DS21436,BMG_DS080078,combined pituitary hormone deficiency 2 | OMIM ID:262600 | DOID:0061020 +BMGC_DS21437,BMG_DS080079,polycystic kidney disease 4 | OMIM ID:263200 | DOID:0080212 +BMGC_DS21438,BMG_DS080080,DOID:0081131 | BH4-deficient hyperphenylalaninemia D | OMIM ID:264070 +BMGC_DS21439,BMG_DS080081,DOID:0081333 | OMIM ID:264090 | Wiedemann-Rautenstrauch syndrome +BMGC_DS21440,BMG_DS080082,OMIM ID:264700 | DOID:0080886 | vitamin D-dependent rickets type 1A +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,DOID:0110892 | inflammatory bowel disease 1 | OMIM ID:266600 +BMGC_DS21445,BMG_DS080087,DOID:0110921 | familial hemophagocytic lymphohistiocytosis 1 | OMIM ID:267700 +BMGC_DS21446,BMG_DS080088,DOID:0070026 | OMIM ID:268130 | Revesz syndrome +BMGC_DS21447,BMG_DS080089,OMIM ID:269200 | autoimmune polyendocrine syndrome type 2 | DOID:0050168 +BMGC_DS21448,BMG_DS080090,OMIM ID:270960 | spermatogenic failure 4 | DOID:0070176 +BMGC_DS21449,BMG_DS080091,DOID:0110918 | OMIM ID:270970 | hereditary spherocytosis type 3 +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 | OMIM ID:272150 | DOID:0110979 +BMGC_DS21453,BMG_DS080095,DOID:0080329 | OMIM ID:272430 | cold-induced sweating syndrome 1 +BMGC_DS21454,BMG_DS080096,DOID:0050818 | transcobalamin II deficiency | OMIM ID:275350 +BMGC_DS21455,BMG_DS080097,Chanarin-Dorfman syndrome | OMIM ID:275630 | DOID:0050729 +BMGC_DS21456,BMG_DS080098,mismatch repair cancer syndrome | OMIM ID:276300 | DOID:0112182 +BMGC_DS21457,BMG_DS080099,DOID:0050725 | OMIM ID:276600 | tyrosinemia type II +BMGC_DS21458,BMG_DS080100,OMIM ID:276700 | tyrosinemia type I | DOID:0050726 +BMGC_DS21459,BMG_DS080101,tyrosinemia type III | DOID:0050727 | OMIM ID:276710 +BMGC_DS21460,BMG_DS080102,OMIM ID:276820 | Schinzel type phocomelia | DOID:0112181 +BMGC_DS21461,BMG_DS080103,OMIM ID:277000 | DOID:0112178 | Mayer-Rokitansky-Kuster-Hauser syndrome type 1 +BMGC_DS21462,BMG_DS080104,OMIM ID:277180 | DOID:0111864 | autosomal recessive congenital bilateral absence of vas deferens +BMGC_DS21463,BMG_DS080105,spondylocostal dysostosis 1 | DOID:0112365 | OMIM ID:277300 +BMGC_DS21464,BMG_DS080106,methylmalonic aciduria and homocystinuria type cblF | OMIM ID:277380 | DOID:0050717 +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,OMIM ID:277720 | autosomal recessive Whistling face syndrome | DOID:0111606 +BMGC_DS21468,BMG_DS080110,OMIM ID:300000 | Opitz GBBB syndrome | DOID:0080697 +BMGC_DS21469,BMG_DS080111,DOID:0112151 | OMIM ID:300004 | corpus callosum agenesis-abnormal genitalia syndrome +BMGC_DS21470,BMG_DS080112,X-linked deafness 3 | DOID:0111736 | OMIM ID:300030 +BMGC_DS21471,BMG_DS080113,DOID:0112049 | OMIM ID:300046 | non-syndromic X-linked intellectual disability 23 +BMGC_DS21472,BMG_DS080114,non-syndromic X-linked intellectual disability 20 | OMIM ID:300047 | DOID:0112023 +BMGC_DS21473,BMG_DS080115,non-syndromic X-linked intellectual disability 14 | DOID:0112027 | OMIM ID:300062 +BMGC_DS21474,BMG_DS080116,DOID:0111735 | OMIM ID:300066 | X-linked deafness 4 +BMGC_DS21475,BMG_DS080117,fetal akinesia deformation sequence syndrome X-linked | OMIM ID:300073 | DOID:0081043 +BMGC_DS21476,BMG_DS080118,DOID:0080156 | OMIM ID:300200 | X-linked adrenal hypoplasia congenita +BMGC_DS21477,BMG_DS080119,DOID:0080342 | Simpson-Golabi-Behmel syndrome type 2 | OMIM ID:300209 +BMGC_DS21478,BMG_DS080120,DOID:0112238 | OMIM ID:300215 | X-linked lissencephaly 2 +BMGC_DS21479,BMG_DS080121,DOID:0112059 | OMIM ID:300271 | non-syndromic X-linked intellectual disability 72 +BMGC_DS21480,BMG_DS080122,ectodermal dysplasia and immunodeficiency 1 | OMIM ID:300291 | DOID:0081078 +BMGC_DS21481,BMG_DS080123,DOID:0112127 | OMIM ID:300323 | HRPT-related hyperuricemia +BMGC_DS21482,BMG_DS080124,DOID:0112047 | non-syndromic X-linked intellectual disability 53 | OMIM ID:300324 +BMGC_DS21483,BMG_DS080125,cerebral creatine deficiency syndrome 1 | OMIM ID:300352 | DOID:0050800 +BMGC_DS21484,BMG_DS080126,DOID:0112017 | OMIM ID:300355 | non-syndromic X-linked intellectual disability 73 +BMGC_DS21485,BMG_DS080127,OMIM ID:300372 | non-syndromic X-linked intellectual disability 42 | DOID:0112057 +BMGC_DS21486,BMG_DS080128,DOID:0112050 | OMIM ID:300387 | non-syndromic X-linked intellectual disability 63 +BMGC_DS21487,BMG_DS080129,OMIM ID:300428 | DOID:0112016 | non-syndromic X-linked intellectual disability 2 +BMGC_DS21488,BMG_DS080130,DOID:0112033 | non-syndromic X-linked intellectual disability 81 | OMIM ID:300433 +BMGC_DS21489,BMG_DS080131,DOID:0112126 | Stocco Dos Santos type X-linked intellectual disability | OMIM ID:300434 +BMGC_DS21490,BMG_DS080132,OMIM ID:300436 | DOID:0112055 | non-syndromic X-linked intellectual disability 46 +BMGC_DS21491,BMG_DS080133,non-syndromic X-linked intellectual disability 77 | DOID:0112039 | OMIM ID:300454 +BMGC_DS21492,BMG_DS080134,DOID:0112124 | OMIM ID:300455 | X-linked retinitis pigmentosa and sinorespiratory infections +BMGC_DS21493,BMG_DS080135,DOID:0080311 | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | OMIM ID:300486 +BMGC_DS21494,BMG_DS080136,DOID:0112028 | OMIM ID:300498 | non-syndromic X-linked intellectual disability 45 +BMGC_DS21495,BMG_DS080137,OMIM ID:300505 | DOID:0112030 | non-syndromic X-linked intellectual disability 84 +BMGC_DS21496,BMG_DS080138,DOID:0080861 | primary ovarian insufficiency 4 | OMIM ID:300510 +BMGC_DS21497,BMG_DS080139,OMIM ID:300511 | DOID:0080858 | primary ovarian insufficiency 2A +BMGC_DS21498,BMG_DS080140,DOID:0112052 | non-syndromic X-linked intellectual disability 82 | OMIM ID:300518 +BMGC_DS21499,BMG_DS080141,OMIM ID:300554 | DOID:0080353 | X-linked recessive hypophosphatemic rickets +BMGC_DS21500,BMG_DS080142,OMIM ID:300577 | non-syndromic X-linked intellectual disability 91 | DOID:0112043 +BMGC_DS21501,BMG_DS080143,X-linked congenital myopathy with fiber-type disproportion | OMIM ID:300580 | DOID:0111226 +BMGC_DS21502,BMG_DS080144,SHOX-related short stature | DOID:0112120 | OMIM ID:300582 +BMGC_DS21503,BMG_DS080145,OMIM ID:300589 | DOID:0111796 | congenital nystagmus 5 +BMGC_DS21504,BMG_DS080146,OMIM ID:300590 | Cornelia de Lange syndrome 2 | DOID:0080506 +BMGC_DS21505,BMG_DS080147,DOID:0080859 | primary ovarian insufficiency 2B | OMIM ID:300604 +BMGC_DS21506,BMG_DS080148,developmental and epileptic encephalopathy 8 | DOID:0080215 | OMIM ID:300607 +BMGC_DS21507,BMG_DS080149,OMIM ID:300614 | DOID:0111741 | X-linked deafness 5 +BMGC_DS21508,BMG_DS080150,OMIM ID:300622 | DOID:0080520 | Tn polyagglutination syndrome +BMGC_DS21509,BMG_DS080151,OMIM ID:300672 | developmental and epileptic encephalopathy 2 | DOID:0080467 +BMGC_DS21510,BMG_DS080152,X-linked Emery-Dreifuss muscular dystrophy 6 | DOID:0070251 | OMIM ID:300696 +BMGC_DS21511,BMG_DS080153,OMIM ID:PS309530 | DOID:0050776 | OMIM ID:300716 | non-syndromic X-linked intellectual disability +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,DOID:0112031 | non-syndromic X-linked intellectual disability 89 | OMIM ID:300848 +BMGC_DS21516,BMG_DS080158,non-syndromic X-linked intellectual disability 90 | DOID:0112041 | OMIM ID:300850 +BMGC_DS21517,BMG_DS080159,OMIM ID:300851 | non-syndromic X-linked intellectual disability 92 | DOID:0112032 +BMGC_DS21518,BMG_DS080160,"DOID:0080319 | OMIM ID:300853 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" +BMGC_DS21519,BMG_DS080161,DOID:0050781 | OMIM ID:300855 | Ogden syndrome +BMGC_DS21520,BMG_DS080162,DOID:0060803 | OMIM ID:300858 | syndromic X-linked intellectual disability 17 +BMGC_DS21521,BMG_DS080163,syndromic X-linked intellectual disability Chudley-Schwartz type | OMIM ID:300861 | DOID:0060819 +BMGC_DS21522,BMG_DS080164,DOID:0080968 | intracranial berry aneurysm 5 | OMIM ID:300870 +BMGC_DS21523,BMG_DS080165,DOID:0080470 | developmental and epileptic encephalopathy 36 | OMIM ID:300884 +BMGC_DS21524,BMG_DS080166,OMIM ID:300896 | congenital disorder of glycosylation type IIm | DOID:0070265 +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,OMIM ID:300943 | DOID:0112007 | growth hormone secreting pituitary adenoma 2 +BMGC_DS21528,BMG_DS080170,DOID:0060817 | syndromic X-linked intellectual disability 34 | OMIM ID:300967 +BMGC_DS21529,BMG_DS080171,DOID:0112001 | immunodeficiency 50 | OMIM ID:300988 +BMGC_DS21530,BMG_DS080172,OMIM ID:300997 | non-syndromic X-linked intellectual disability 106 | DOID:0080240 +BMGC_DS21531,BMG_DS080173,OMIM ID:301008 | syndromic X-linked mental retardation Hough type | DOID:0080242 +BMGC_DS21532,BMG_DS080174,OMIM ID:301013 | non-syndromic X-linked intellectual disability 107 | DOID:0112054 +BMGC_DS21533,BMG_DS080175,osteogenesis imperfecta type 19 | DOID:0111847 | OMIM ID:301014 +BMGC_DS21534,BMG_DS080176,OMIM ID:301030 | Van Esch-O'Driscoll syndrome | DOID:0111840 +BMGC_DS21535,BMG_DS080177,DOID:0080839 | X-linked warfarin sensitivity | OMIM ID:301052 +BMGC_DS21536,BMG_DS080178,DOID:0080828 | VEXAS syndrome | OMIM ID:301054 +BMGC_DS21537,BMG_DS080179,syndromic X-linked intellectual disability Pilorge type | DOID:0070422 | OMIM ID:301076 +BMGC_DS21538,BMG_DS080180,DOID:0051008 | congenital nonspherocytic hemolytic anemia 9 | OMIM ID:301083 +BMGC_DS21539,BMG_DS080181,non-syndromic X-linked intellectual developmental disorder 111 | OMIM ID:301107 | DOID:0060929 +BMGC_DS21540,BMG_DS080182,neural tube defect | OMIM ID:601634 | DOID:0080074 | OMIM ID:301410 +BMGC_DS21541,BMG_DS080183,OMIM ID:302960 | DOID:0080352 | X-linked chondrodysplasia punctata 2 +BMGC_DS21542,BMG_DS080184,X-linked cleft palate with or without ankyloglossia | DOID:0060613 | OMIM ID:303400 +BMGC_DS21543,BMG_DS080185,OMIM ID:304400 | DOID:0111737 | X-linked deafness 2 +BMGC_DS21544,BMG_DS080186,X-linked deafness 1 | OMIM ID:304500 | DOID:0111739 +BMGC_DS21545,BMG_DS080187,X-linked nephrogenic diabetes insipidus | DOID:0081060 | OMIM ID:304800 +BMGC_DS21546,BMG_DS080188,DOID:0111413 | OMIM ID:305390 | X-linked exudative vitreoretinopathy 2 +BMGC_DS21547,BMG_DS080189,frontometaphyseal dysplasia 1 | OMIM ID:305620 | DOID:0111786 +BMGC_DS21548,BMG_DS080190,X-linked spermatogenic failure 1 | DOID:0070189 | OMIM ID:305700 +BMGC_DS21549,BMG_DS080191,OMIM ID:306400 | X-linked chronic granulomatous disease | DOID:0070195 +BMGC_DS21550,BMG_DS080192,DOID:0050545 | visceral heterotaxy | OMIM ID:606325 | OMIM ID:605376 | OMIM ID:614779 | OMIM ID:613751 | OMIM ID:306955 | OMIM ID:PS306955 +BMGC_DS21551,BMG_DS080193,OMIM ID:307700 | DOID:0111388 | X-linked hypoparathyroidism +BMGC_DS21552,BMG_DS080194,CD40 ligand deficiency | DOID:0060022 | OMIM ID:308230 +BMGC_DS21553,BMG_DS080195,OMIM ID:308800 | X-linked keratosis follicularis spinulosa decalvans | DOID:0080754 +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 | OMIM ID:309520 | DOID:0080985 +BMGC_DS21556,BMG_DS080198,OMIM ID:309548 | DOID:0080984 | X-linked intellectual developmental disorder 109 +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,DOID:0060805 | OMIM ID:309610 | Prieto syndrome +BMGC_DS21560,BMG_DS080202,X-linked Emery-Dreifuss muscular dystrophy 1 | DOID:0070246 | OMIM ID:310300 +BMGC_DS21561,BMG_DS080203,DOID:0050760 | OMIM ID:310440 | X-linked myopathy with excessive autophagy +BMGC_DS21562,BMG_DS080204,DOID:0111798 | X-linked nephrolithiasis type I | OMIM ID:310468 +BMGC_DS21563,BMG_DS080205,DOID:0070159 | OMIM ID:310470 | hereditary sensory neuropathy X-linked +BMGC_DS21564,BMG_DS080206,congenital stationary night blindness 1A | OMIM ID:310500 | DOID:0110870 +BMGC_DS21565,BMG_DS080207,DOID:0111790 | congenital nystagmus 1 | OMIM ID:310700 +BMGC_DS21566,BMG_DS080208,DOID:0111443 | optic atrophy 2 | OMIM ID:311050 +BMGC_DS21567,BMG_DS080209,DOID:0080857 | OMIM ID:311360 | primary ovarian insufficiency 1 +BMGC_DS21568,BMG_DS080210,DOID:0111781 | Waisman syndrome | OMIM ID:311510 +BMGC_DS21569,BMG_DS080211,OMIM ID:312000 | X-linked panhypopituitarism | DOID:0111779 +BMGC_DS21570,BMG_DS080212,DOID:0080776 | partial androgen insensitivity syndrome | OMIM ID:312300 +BMGC_DS21571,BMG_DS080213,OMIM ID:313400 | X-linked spondyloepiphyseal dysplasia tarda | DOID:0080362 +BMGC_DS21572,BMG_DS080214,Y-linked spermatogenic failure 1 | OMIM ID:400042 | DOID:0070186 +BMGC_DS21573,BMG_DS080215,"DOID:0111778 | OMIM ID:400044 | 46,XY sex reversal 1" +BMGC_DS21574,BMG_DS080216,"DOID:0111761 | OMIM ID:400045 | 46,XX sex reversal 1" +BMGC_DS21575,BMG_DS080217,OMIM ID:500000 | DOID:0080198 | infantile histiocytoid cardiomyopathy +BMGC_DS21576,BMG_DS080218,OMIM ID:557000 | DOID:0060067 | Pearson syndrome +BMGC_DS21577,BMG_DS080219,OMIM ID:600001 | pancreatic hypoplasia-diabetes-congenital heart disease syndrome | DOID:0111733 +BMGC_DS21578,BMG_DS080220,DOID:0060761 | familial chronic myelocytic leukemia-like syndrome | OMIM ID:600080 +BMGC_DS21579,BMG_DS080221,OMIM ID:600081 | DOID:0080887 | vitamin D-dependent rickets type 1B +BMGC_DS21580,BMG_DS080222,DOID:0080634 | OMIM ID:615972 | OMIM ID:600165 | OMIM ID:611897 | OMIM ID:PS600165 | OMIM ID:609549 | nanophthalmos +BMGC_DS21581,BMG_DS080223,autosomal dominant distal hereditary motor neuronopathy 8 | DOID:0111215 | OMIM ID:600175 +BMGC_DS21582,BMG_DS080224,DOID:0070298 | multiple epiphyseal dysplasia 2 | OMIM ID:600204 +BMGC_DS21583,BMG_DS080225,OMIM ID:600224 | DOID:0050882 | spinocerebellar ataxia type 5 +BMGC_DS21584,BMG_DS080226,oblique facial clefting 1 | OMIM ID:600251 | DOID:0111706 +BMGC_DS21585,BMG_DS080227,DOID:0070343 | CSF1R-related brain malformation and osteopetrosis | OMIM ID:600329 +BMGC_DS21586,BMG_DS080228,DOID:0080067 | Charcot-Marie-Tooth disease type 5 | 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,OMIM ID:600512 | familial temporal lobe epilepsy 1 | DOID:0060748 +BMGC_DS21590,BMG_DS080232,DOID:0060682 | OMIM ID:600513 | autosomal dominant nocturnal frontal lobe epilepsy 1 +BMGC_DS21591,BMG_DS080233,DOID:0080885 | OMIM ID:600785 | vitamin D-dependent rickets type 2B +BMGC_DS21592,BMG_DS080234,OMIM ID:600802 | janus kinase-3 deficiency | DOID:0060008 +BMGC_DS21593,BMG_DS080235,OMIM ID:600858 | DOID:0110312 | hypertrophic cardiomyopathy 6 +BMGC_DS21594,BMG_DS080236,OMIM ID:600972 | DOID:0080055 | achondrogenesis type IB +BMGC_DS21595,BMG_DS080237,DOID:0112179 | OMIM ID:601076 | Mayer-Rokitansky-Kuster-Hauser syndrome type 2 +BMGC_DS21596,BMG_DS080238,Charcot-Marie-Tooth disease type 6 | DOID:0080068 | OMIM ID:601152 | OMIM ID:616505 +BMGC_DS21597,BMG_DS080239,OMIM ID:601200 | DOID:0081063 | DICER1 syndrome +BMGC_DS21598,BMG_DS080240,OMIM ID:601223 | neuronal intestinal dysplasia type B | DOID:0080680 +BMGC_DS21599,BMG_DS080241,OMIM ID:601331 | diffuse cystic renal dysplasia | DOID:0111682 +BMGC_DS21600,BMG_DS080242,OMIM ID:601358 | Nicolaides-Baraitser syndrome | DOID:0081441 +BMGC_DS21601,BMG_DS080243,DOID:0111283 | OMIM ID:601454 | psoriasis 3 +BMGC_DS21602,BMG_DS080244,DOID:0050809 | OMIM ID:601492 | mucopolysaccharidosis IX +BMGC_DS21603,BMG_DS080245,Athabaskan brainstem dysgenesis syndrome | DOID:0050682 | OMIM ID:601536 +BMGC_DS21604,BMG_DS080246,OMIM ID:601539 | DOID:0081240 | peroxisome biogenesis disorder 1B +BMGC_DS21605,BMG_DS080247,DOID:0111873 | photosensitive trichothiodystrophy 1 | OMIM ID:601675 +BMGC_DS21606,BMG_DS080248,OMIM ID:601764 | benign familial infantile seizures 1 | DOID:0081114 +BMGC_DS21607,BMG_DS080249,DOID:0080736 | OMIM ID:601776 | Ehlers-Danlos syndrome musculocontractural type 1 +BMGC_DS21608,BMG_DS080250,OMIM ID:601777 | DOID:0111011 | cone-rod dystrophy 6 +BMGC_DS21609,BMG_DS080251,DOID:0070218 | familial hyperinsulinemic hypoglycemia 2 | OMIM ID:601820 +BMGC_DS21610,BMG_DS080252,OMIM ID:602032 | DOID:0111658 | ectodermal dysplasia 4 +BMGC_DS21611,BMG_DS080253,OMIM ID:602081 | DOID:0111275 | speech-language disorder-1 +BMGC_DS21612,BMG_DS080254,DOID:0060197 | OMIM ID:602099 | amyotrophic lateral sclerosis type 5 +BMGC_DS21613,BMG_DS080255,Pierpont syndrome | OMIM ID:602342 | DOID:0081362 +BMGC_DS21614,BMG_DS080256,DOID:0111250 | OMIM ID:602404 | Parkinson's disease 3 +BMGC_DS21615,BMG_DS080257,familial hyperinsulinemic hypoglycemia 3 | OMIM ID:602485 | DOID:0070216 +BMGC_DS21616,BMG_DS080258,OMIM ID:602579 | congenital disorder of glycosylation Ib | DOID:0080554 +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,DOID:0110667 | congenital myasthenic syndrome 5 | OMIM ID:603034 +BMGC_DS21620,BMG_DS080262,age related macular degeneration 1 | OMIM ID:603075 | DOID:0110014 +BMGC_DS21621,BMG_DS080263,congenital disorder of glycosylation Ic | DOID:0080555 | OMIM ID:603147 +BMGC_DS21622,BMG_DS080264,schizophrenia 5 | OMIM ID:603175 | DOID:0070081 +BMGC_DS21623,BMG_DS080265,DOID:0070083 | OMIM ID:603176 | schizophrenia 7 +BMGC_DS21624,BMG_DS080266,autosomal dominant nocturnal frontal lobe epilepsy 2 | OMIM ID:603204 | DOID:0060683 +BMGC_DS21625,BMG_DS080267,DOID:0070084 | OMIM ID:603206 | schizophrenia 8 +BMGC_DS21626,BMG_DS080268,DOID:0081102 | familial gestational hyperthyroidism | OMIM ID:603373 +BMGC_DS21627,BMG_DS080269,adult-onset type II citrullinemia | OMIM ID:603471 | DOID:0070342 +BMGC_DS21628,BMG_DS080270,DOID:0081294 | OMIM ID:603472 | neuronal intranuclear inclusion disease +BMGC_DS21629,BMG_DS080271,spinocerebellar ataxia type 10 | DOID:0050960 | OMIM ID:603516 +BMGC_DS21630,BMG_DS080272,DOID:0060646 | OMIM ID:603523 | congenital chylothorax +BMGC_DS21631,BMG_DS080273,OMIM ID:603546 | DOID:0112199 | spondyloepimetaphyseal dysplasia with joint laxity type 2 +BMGC_DS21632,BMG_DS080274,OMIM ID:603552 | DOID:0110924 | familial hemophagocytic lymphohistiocytosis 4 +BMGC_DS21633,BMG_DS080275,DOID:0111188 | myofibrillar myopathy 9 | OMIM ID:603689 +BMGC_DS21634,BMG_DS080276,OMIM ID:603902 | DOID:0080770 | autosomal dominant beta thalassemia +BMGC_DS21635,BMG_DS080277,sickle cell disease | DOID:0081445 | OMIM ID:603903 +BMGC_DS21636,BMG_DS080278,OMIM ID:603935 | psoriasis 4 | DOID:0111280 +BMGC_DS21637,BMG_DS080279,DOID:0080751 | OMIM ID:604093 | keratosis pilaris atrophicans +BMGC_DS21638,BMG_DS080280,left ventricular noncompaction | OMIM ID:604169 | DOID:0060480 +BMGC_DS21639,BMG_DS080281,aceruloplasminemia | DOID:0050711 | OMIM ID:604290 +BMGC_DS21640,BMG_DS080282,OMIM ID:604316 | psoriasis 5 | DOID:0111282 +BMGC_DS21641,BMG_DS080283,DOID:0050962 | spinocerebellar ataxia type 12 | 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 | OMIM ID:604391 | DOID:0081384 +BMGC_DS21644,BMG_DS080286,OMIM ID:604416 | PAPA syndrome | DOID:0080519 +BMGC_DS21645,BMG_DS080287,infundibulocystic basal cell carcinoma | OMIM ID:604451 | DOID:4279 +BMGC_DS21646,BMG_DS080288,DOID:0060009 | MHC class I deficiency | OMIM ID:604571 +BMGC_DS21647,BMG_DS080289,DOID:0061009 | craniosynostosis 2 | OMIM ID:604757 +BMGC_DS21648,BMG_DS080290,primary autosomal recessive microcephaly 3 | DOID:0070286 | OMIM ID:604804 +BMGC_DS21649,BMG_DS080291,DOID:0080675 | OMIM ID:604841 | Stickler syndrome 2 +BMGC_DS21650,BMG_DS080292,DOID:0070085 | OMIM ID:604906 | schizophrenia 9 +BMGC_DS21651,BMG_DS080293,familial hypobetalipoproteinemia 2 | DOID:0111061 | OMIM ID:605019 +BMGC_DS21652,BMG_DS080294,OMIM ID:605259 | spinocerebellar ataxia type 13 | DOID:0050963 +BMGC_DS21653,BMG_DS080295,DOID:0050964 | spinocerebellar ataxia type 14 | OMIM ID:605361 +BMGC_DS21654,BMG_DS080296,dilated cardiomyopathy 1J | OMIM ID:605362 | DOID:0110440 +BMGC_DS21655,BMG_DS080297,OMIM ID:605364 | DOID:0111290 | psoriasis 6 +BMGC_DS21656,BMG_DS080298,OMIM ID:605375 | DOID:0060684 | autosomal dominant nocturnal frontal lobe epilepsy 3 +BMGC_DS21657,BMG_DS080299,ataxic cerebral palsy | DOID:0050670 | OMIM ID:605388 +BMGC_DS21658,BMG_DS080300,OMIM ID:605419 | schizophrenia 10 | DOID:0070086 +BMGC_DS21659,BMG_DS080301,OMIM ID:605606 | DOID:0111279 | psoriasis 7 +BMGC_DS21660,BMG_DS080302,OMIM ID:605637 | congenital myopathy 6 | DOID:0080719 +BMGC_DS21661,BMG_DS080303,OMIM ID:605711 | DOID:0080133 | multiple mitochondrial dysfunctions syndrome 1 +BMGC_DS21662,BMG_DS080304,platelet-type bleeding disorder 12 | OMIM ID:605735 | DOID:0111058 +BMGC_DS21663,BMG_DS080305,DOID:0110098 | atopic dermatitis 2 | OMIM ID:605803 +BMGC_DS21664,BMG_DS080306,DOID:0110099 | atopic dermatitis 3 | OMIM ID:605804 +BMGC_DS21665,BMG_DS080307,DOID:0110101 | atopic dermatitis 5 | OMIM ID:605844 +BMGC_DS21666,BMG_DS080308,atopic dermatitis 6 | OMIM ID:605845 | DOID:0110102 +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 | OMIM ID:605909 | DOID:0060369 +BMGC_DS21670,BMG_DS080312,OMIM ID:605911 | HMG-CoA synthase 2 deficiency | DOID:0081168 +BMGC_DS21671,BMG_DS080313,OMIM ID:606002 | DOID:0050755 | spinocerebellar ataxia with axonal neuropathy 2 +BMGC_DS21672,BMG_DS080314,DOID:0080354 | OMIM ID:606232 | Phelan-McDermid syndrome +BMGC_DS21673,BMG_DS080315,DOID:0111104 | OMIM ID:606394 | maturity-onset diabetes of the young type 6 +BMGC_DS21674,BMG_DS080316,Ehlers-Danlos syndrome classic-like 1 | DOID:0080731 | OMIM ID:606408 +BMGC_DS21675,BMG_DS080317,OMIM ID:606554 | episodic ataxia type 3 | DOID:0050991 +BMGC_DS21676,BMG_DS080318,oculocutaneous albinism type IV | OMIM ID:606574 | DOID:0070098 +BMGC_DS21677,BMG_DS080319,DOID:0060021 | DNA ligase IV deficiency | OMIM ID:606593 +BMGC_DS21678,BMG_DS080320,DOID:0060195 | OMIM ID:606640 | amyotrophic lateral sclerosis type 3 +BMGC_DS21679,BMG_DS080321,Waardenburg syndrome type 2C | OMIM ID:606662 | DOID:0110951 +BMGC_DS21680,BMG_DS080322,DOID:0060244 | OMIM ID:607134 | OMIM ID:606712 | OMIM ID:615432 | OMIM ID:606711 | specific language impairment | OMIM ID:612514 +BMGC_DS21681,BMG_DS080323,DOID:0070217 | familial hyperinsulinemic hypoglycemia 6 | OMIM ID:606762 +BMGC_DS21682,BMG_DS080325,OMIM ID:607004 | DOID:0110974 | brachydactyly type A1B +BMGC_DS21683,BMG_DS080326,congenital disorder of glycosylation Ig | OMIM ID:607143 | DOID:0080559 +BMGC_DS21684,BMG_DS080327,Dravet syndrome | OMIM ID:607208 | DOID:0080422 +BMGC_DS21685,BMG_DS080328,spinocerebellar ataxia type 19/22 | DOID:0050970 | OMIM ID:607346 +BMGC_DS21686,BMG_DS080329,OMIM ID:607417 | DOID:0081178 | autosomal recessive intellectual developmental disorder 2 +BMGC_DS21687,BMG_DS080330,lissencephaly 1 | OMIM ID:607432 | DOID:0112237 +BMGC_DS21688,BMG_DS080331,Newfoundland cone-rod dystrophy | DOID:0111015 | OMIM ID:607476 +BMGC_DS21689,BMG_DS080332,OMIM ID:613055 | OMIM ID:607554 | OMIM ID:612201 | familial atrial fibrillation | OMIM ID:611494 | OMIM ID:614049 | OMIM ID:613980 | OMIM ID:615377 | OMIM ID:608583 | OMIM ID:612240 | DOID:0050650 | OMIM ID:611493 | OMIM ID:PS608583 | OMIM ID:614022 | OMIM ID:608988 | OMIM ID:615378 | OMIM ID:615770 | OMIM ID:614050 +BMGC_DS21690,BMG_DS080333,DOID:0060265 | OMIM ID:607596 | pontocerebellar hypoplasia type 1A +BMGC_DS21691,BMG_DS080334,idiopathic generalized epilepsy 11 | DOID:0111312 | OMIM ID:607628 +BMGC_DS21692,BMG_DS080335,OMIM ID:607631 | juvenile absence epilepsy 1 | DOID:0111324 +BMGC_DS21693,BMG_DS080336,autosomal dominant distal hereditary motor neuronopathy 14 | DOID:0111202 | OMIM ID:607641 +BMGC_DS21694,BMG_DS080337,idiopathic generalized epilepsy 9 | OMIM ID:607682 | DOID:0111323 +BMGC_DS21695,BMG_DS080338,OMIM ID:607822 | DOID:0110042 | Alzheimer's disease 3 +BMGC_DS21696,BMG_DS080339,DOID:0112245 | focal segmental glomerulosclerosis 3 | OMIM ID:607832 +BMGC_DS21697,BMG_DS080340,DOID:0111284 | OMIM ID:607857 | psoriasis 9 +BMGC_DS21698,BMG_DS080341,DOID:0111692 | OMIM ID:607876 | familial adult myoclonic epilepsy 2 +BMGC_DS21699,BMG_DS080342,DOID:0060198 | OMIM ID:608030 | amyotrophic lateral sclerosis type 6 +BMGC_DS21700,BMG_DS080343,amyotrophic lateral sclerosis type 7 | OMIM ID:608031 | DOID:0060199 +BMGC_DS21701,BMG_DS080344,congenital disorder of glycosylation Ij | DOID:0080562 | OMIM ID:608093 +BMGC_DS21702,BMG_DS080345,OMIM ID:608104 | congenital disorder of glycosylation Ih | DOID:0080560 +BMGC_DS21703,BMG_DS080346,DOID:0111645 | OMIM ID:608105 | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +BMGC_DS21704,BMG_DS080347,OMIM ID:608149 | DOID:0111712 | Kagami-Ogata syndrome +BMGC_DS21705,BMG_DS080348,DOID:0111793 | OMIM ID:608345 | congenital nystagmus 3 +BMGC_DS21706,BMG_DS080349,autosomal dominant hyaline body myopathy | OMIM ID:608358 | DOID:0111269 +BMGC_DS21707,BMG_DS080350,primary autosomal recessive microcephaly 6 | OMIM ID:608393 | DOID:0070290 +BMGC_DS21708,BMG_DS080351,OMIM ID:608404 | DOID:0111046 | platelet-type bleeding disorder 10 +BMGC_DS21709,BMG_DS080352,bradyopsia 1 | DOID:0070363 | OMIM ID:608415 +BMGC_DS21710,BMG_DS080353,autosomal recessive intellectual developmental disorder 3 | OMIM ID:608443 | DOID:0081179 +BMGC_DS21711,BMG_DS080354,OMIM ID:608540 | congenital disorder of glycosylation Ik | DOID:0080563 +BMGC_DS21712,BMG_DS080355,DOID:0080965 | intracranial berry aneurysm 2 | OMIM ID:608542 +BMGC_DS21713,BMG_DS080356,OMIM ID:608627 | DOID:0050752 | amyotrophic lateral sclerosis type 8 +BMGC_DS21714,BMG_DS080357,DOID:0111207 | autosomal dominant distal hereditary motor neuronopathy 3 | OMIM ID:608634 +BMGC_DS21715,BMG_DS080358,DOID:0112362 | spondylocostal dysostosis 2 | OMIM ID:608681 +BMGC_DS21716,BMG_DS080359,OMIM ID:608716 | DOID:0070280 | primary autosomal recessive microcephaly 5 +BMGC_DS21717,BMG_DS080360,DOID:0111318 | idiopathic generalized epilepsy 3 | OMIM ID:608762 +BMGC_DS21718,BMG_DS080361,OMIM ID:608776 | congenital disorder of glycosylation Il | DOID:0080564 +BMGC_DS21719,BMG_DS080362,DOID:0080093 | myofibrillar myopathy 2 | OMIM ID:608810 +BMGC_DS21720,BMG_DS080363,orofacial cleft 6 | OMIM ID:608864 | DOID:0080593 +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,OMIM ID:608970 | DOID:0060864 | patterned macular dystrophy 2 +BMGC_DS21724,BMG_DS080367,OMIM ID:608984 | autosomal dominant sensory ataxia 1 | DOID:0111170 +BMGC_DS21725,BMG_DS080368,OMIM ID:608996 | primary ovarian insufficiency 3 | DOID:0080860 +BMGC_DS21726,BMG_DS080369,OMIM ID:609026 | cataract 28 | DOID:0110244 +BMGC_DS21727,BMG_DS080370,OMIM ID:609056 | salt and pepper syndrome | DOID:0060470 +BMGC_DS21728,BMG_DS080371,OMIM ID:609152 | nonautoimmune hyperthyroidism | DOID:0081101 +BMGC_DS21729,BMG_DS080372,OMIM ID:609192 | DOID:0070235 | Loeys-Dietz syndrome 1 +BMGC_DS21730,BMG_DS080373,DOID:0112291 | autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type | OMIM ID:609223 +BMGC_DS21731,BMG_DS080374,OMIM ID:609241 | DOID:0112318 | Schindler disease type 1 +BMGC_DS21732,BMG_DS080375,Kanzaki disease | DOID:0112319 | OMIM ID:609242 +BMGC_DS21733,BMG_DS080376,OMIM ID:609253 | DOID:0111309 | familial febrile seizures 6 +BMGC_DS21734,BMG_DS080377,familial febrile seizures 5 | OMIM ID:609255 | DOID:0111306 +BMGC_DS21735,BMG_DS080378,DOID:0111517 | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | OMIM ID:609283 +BMGC_DS21736,BMG_DS080379,autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | OMIM ID:609286 | DOID:0111520 +BMGC_DS21737,BMG_DS080380,developmental and epileptic encephalopathy 3 | DOID:0080440 | OMIM ID:609304 +BMGC_DS21738,BMG_DS080381,DOID:0070274 | OMIM ID:609310 | hereditary nonpolyposis colorectal cancer type 2 +BMGC_DS21739,BMG_DS080382,OMIM ID:609313 | DOID:0060483 | MEDNIK syndrome +BMGC_DS21740,BMG_DS080383,rhabdoid tumor predisposition syndrome 1 | OMIM ID:609322 | DOID:0070618 +BMGC_DS21741,BMG_DS080384,DOID:0081019 | OMIM ID:609384 | congenital fibrosis of the extraocular muscles 3C +BMGC_DS21742,BMG_DS080385,myofibrillar myopathy 5 | DOID:0080096 | OMIM ID:609524 +BMGC_DS21743,BMG_DS080386,DOID:0111426 | OMIM ID:609578 | restrictive cardiomyopathy 2 +BMGC_DS21744,BMG_DS080387,short QT syndrome | OMIM ID:609622 | DOID:0050793 | OMIM ID:609620 | OMIM ID:609621 +BMGC_DS21745,BMG_DS080388,OMIM ID:609629 | DOID:0080682 | autosomal dominant familial visceral neuropathy +BMGC_DS21746,BMG_DS080389,DOID:0111183 | OMIM ID:609634 | familial hemiplegic migraine 3 +BMGC_DS21747,BMG_DS080391,DOID:0111293 | generalized epilepsy with febrile seizures plus 4 | OMIM ID:609800 +BMGC_DS21748,BMG_DS080392,spondylocostal dysostosis 3 | OMIM ID:609813 | DOID:0112361 +BMGC_DS21749,BMG_DS080393,DOID:0080338 | familial erythrocytosis 3 | OMIM ID:609820 +BMGC_DS21750,BMG_DS080394,OMIM ID:609968 | familial hyperinsulinemic hypoglycemia 5 | DOID:0070220 +BMGC_DS21751,BMG_DS080395,DOID:0070215 | familial hyperinsulinemic hypoglycemia 4 | OMIM ID:609975 +BMGC_DS21752,BMG_DS080396,congenital glutamine deficiency | OMIM ID:610015 | DOID:0070544 +BMGC_DS21753,BMG_DS080397,DOID:0111686 | OMIM ID:610069 | hereditary mixed polyposis syndrome 2 +BMGC_DS21754,BMG_DS080398,OMIM ID:610099 | DOID:0111189 | distal myopathy 3 +BMGC_DS21755,BMG_DS080399,DOID:0090069 | OMIM ID:610100 | giant axonal neuropathy 2 +BMGC_DS21756,BMG_DS080400,OMIM ID:610131 | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | DOID:0111525 +BMGC_DS21757,BMG_DS080401,DOID:0110019 | OMIM ID:610149 | age related macular degeneration 7 +BMGC_DS21758,BMG_DS080402,OMIM ID:610168 | Loeys-Dietz syndrome 2 | DOID:0070234 +BMGC_DS21759,BMG_DS080403,OMIM ID:610198 | DOID:0110000 | 3-methylglutaconic aciduria type 5 +BMGC_DS21760,BMG_DS080404,DOID:0060638 | OMIM ID:610199 | neonatal diabetes mellitus with congenital hypothyroidism +BMGC_DS21761,BMG_DS080405,DOID:0080967 | OMIM ID:610213 | intracranial berry aneurysm 4 +BMGC_DS21762,BMG_DS080406,DOID:0110784 | OMIM ID:610244 | hereditary spastic paraplegia 33 +BMGC_DS21763,BMG_DS080407,anterior segment dysgenesis 2 | OMIM ID:610256 | DOID:0080607 +BMGC_DS21764,BMG_DS080408,OMIM ID:610313 | DOID:0080330 | cold-induced sweating syndrome 2 +BMGC_DS21765,BMG_DS080409,Koolen de Vries syndrome | OMIM ID:610443 | DOID:0050880 +BMGC_DS21766,BMG_DS080410,congenital stationary night blindness autosomal dominant 3 | OMIM ID:610444 | DOID:0110715 +BMGC_DS21767,BMG_DS080411,congenital stationary night blindness autosomal dominant 1 | OMIM ID:610445 | DOID:0110862 +BMGC_DS21768,BMG_DS080412,OMIM ID:610455 | DOID:0080170 | normophosphatemic familial tumoral calcinosis +BMGC_DS21769,BMG_DS080413,OMIM ID:610460 | DOID:0061004 | poor metabolism of thiopurines 1 +BMGC_DS21770,BMG_DS080414,maturity-onset diabetes of the young type 7 | OMIM ID:610508 | DOID:0111106 +BMGC_DS21771,BMG_DS080415,"mandibulofacial dysostosis, Guion-Almeida type | DOID:0080196 | OMIM ID:610536" +BMGC_DS21772,BMG_DS080416,age related macular degeneration 4 | OMIM ID:610698 | DOID:0110017 +BMGC_DS21773,BMG_DS080417,OMIM ID:610707 | DOID:0111288 | psoriasis 8 +BMGC_DS21774,BMG_DS080418,DOID:0112133 | OMIM ID:610738 | severe congenital neutropenia 3 +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 | OMIM ID:610896 | DOID:0111424 +BMGC_DS21779,BMG_DS080423,OMIM ID:610992 | PSAT deficiency | DOID:0050723 +BMGC_DS21780,BMG_DS080424,DOID:0081180 | OMIM ID:611090 | autosomal recessive intellectual developmental disorder 12 +BMGC_DS21781,BMG_DS080425,OMIM ID:611091 | autosomal recessive intellectual developmental disorder 5 | DOID:0081181 +BMGC_DS21782,BMG_DS080426,OMIM ID:611092 | autosomal recessive intellectual developmental disorder 6 | DOID:0081182 +BMGC_DS21783,BMG_DS080427,OMIM ID:611093 | DOID:0081183 | autosomal recessive intellectual developmental disorder 7 +BMGC_DS21784,BMG_DS080428,autosomal recessive intellectual developmental disorder 9/26 | DOID:0081184 | OMIM ID:611095 +BMGC_DS21785,BMG_DS080429,OMIM ID:611096 | DOID:0081185 | autosomal recessive intellectual developmental disorder 10/20 +BMGC_DS21786,BMG_DS080430,DOID:0081186 | OMIM ID:611097 | autosomal recessive intellectual developmental disorder 11 +BMGC_DS21787,BMG_DS080431,DOID:0081187 | OMIM ID:611107 | autosomal recessive intellectual developmental disorder 4 +BMGC_DS21788,BMG_DS080432,DOID:0111314 | idiopathic generalized epilepsy 13 | OMIM ID:611136 +BMGC_DS21789,BMG_DS080433,DOID:0111812 | OMIM ID:611222 | syndromic microphthalmia 10 +BMGC_DS21790,BMG_DS080434,OMIM ID:611302 | spastic ataxia 2 | DOID:0050941 +BMGC_DS21791,BMG_DS080435,lethal congenital contracture syndrome 3 | OMIM ID:611369 | DOID:0060653 +BMGC_DS21792,BMG_DS080436,OMIM ID:611378 | age related macular degeneration 9 | DOID:0110021 +BMGC_DS21793,BMG_DS080437,spastic ataxia 3 | DOID:0050942 | OMIM ID:611390 +BMGC_DS21794,BMG_DS080438,OMIM ID:611456 | DOID:0111430 | essential tremor 3 +BMGC_DS21795,BMG_DS080439,OMIM ID:611488 | age related macular degeneration 10 | DOID:0110022 +BMGC_DS21796,BMG_DS080440,DOID:0110944 | autosomal recessive osteopetrosis 4 | OMIM ID:611490 +BMGC_DS21797,BMG_DS080441,OMIM ID:611497 | autosomal recessive osteopetrosis 6 | DOID:0110945 +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 | OMIM ID:611630 | DOID:0060750 +BMGC_DS21801,BMG_DS080445,familial temporal lobe epilepsy 4 | OMIM ID:611631 | DOID:0060753 +BMGC_DS21802,BMG_DS080446,familial febrile seizures 9 | DOID:0111303 | OMIM ID:611634 +BMGC_DS21803,BMG_DS080448,DOID:0081341 | OMIM ID:611705 | congenital myopathy 5 +BMGC_DS21804,BMG_DS080449,OMIM ID:611783 | familial erythrocytosis 4 | DOID:0080339 +BMGC_DS21805,BMG_DS080450,intracranial berry aneurysm 6 | DOID:0080969 | OMIM ID:611892 +BMGC_DS21806,BMG_DS080451,DOID:0060200 | OMIM ID:611895 | amyotrophic lateral sclerosis type 9 +BMGC_DS21807,BMG_DS080452,episodic ataxia type 7 | OMIM ID:611907 | DOID:0050995 +BMGC_DS21808,BMG_DS080454,age related macular degeneration 11 | DOID:0110023 | OMIM ID:611953 +BMGC_DS21809,BMG_DS080455,OMIM ID:612015 | DOID:0080566 | congenital disorder of glycosylation In +BMGC_DS21810,BMG_DS080456,DOID:0060926 | otosclerosis 8 | OMIM ID:612096 +BMGC_DS21811,BMG_DS080457,OMIM ID:612098 | hypertrophic cardiomyopathy 11 | DOID:0110317 +BMGC_DS21812,BMG_DS080458,ectodermal dysplasia and immunodeficiency 2 | OMIM ID:612132 | DOID:0081079 +BMGC_DS21813,BMG_DS080459,OMIM ID:612161 | DOID:0080970 | intracranial berry aneurysm 7 +BMGC_DS21814,BMG_DS080460,OMIM ID:612162 | intracranial berry aneurysm 8 | DOID:0080971 +BMGC_DS21815,BMG_DS080461,DOID:0080436 | OMIM ID:612164 | developmental and epileptic encephalopathy 4 +BMGC_DS21816,BMG_DS080462,OMIM ID:612225 | maturity-onset diabetes of the young type 9 | DOID:0111107 +BMGC_DS21817,BMG_DS080463,OMIM ID:612247 | Crouzon syndrome-acanthosis nigricans syndrome | DOID:0111161 +BMGC_DS21818,BMG_DS080464,OMIM ID:612279 | DOID:0111300 | generalized epilepsy with febrile seizures plus 6 +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,DOID:0080739 | Ehlers-Danlos syndrome spondylodysplastic type 3 | OMIM ID:612350 +BMGC_DS21822,BMG_DS080468,DOID:0080568 | congenital disorder of glycosylation Iq | 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,DOID:0111448 | OMIM ID:612437 | progressive myoclonus epilepsy 1B +BMGC_DS21826,BMG_DS080472,OMIM ID:612462 | DOID:0051013 | pseudohypoparathyroidism type 1C +BMGC_DS21827,BMG_DS080473,DOID:0080101 | OMIM ID:612540 | Compton-North congenital myopathy +BMGC_DS21828,BMG_DS080474,DOID:0112136 | OMIM ID:612541 | severe congenital neutropenia 4 +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 | OMIM ID:612581 | DOID:0070034 +BMGC_DS21831,BMG_DS080477,OMIM ID:612586 | intracranial berry aneurysm 9 | DOID:0080972 +BMGC_DS21832,BMG_DS080478,OMIM ID:612587 | intracranial berry aneurysm 10 | DOID:0080973 +BMGC_DS21833,BMG_DS080479,DOID:0111285 | psoriasis 11 | OMIM ID:612599 +BMGC_DS21834,BMG_DS080480,DOID:0070035 | OMIM ID:612621 | autosomal dominant intellectual developmental disorder 5 +BMGC_DS21835,BMG_DS080481,DOID:0081117 | benign familial infantile seizures 4 | OMIM ID:612627 +BMGC_DS21836,BMG_DS080482,DOID:0051004 | OMIM ID:612631 | congenital nonspherocytic hemolytic anemia 3 +BMGC_DS21837,BMG_DS080483,familial febrile seizures 10 | OMIM ID:612637 | DOID:0111304 +BMGC_DS21838,BMG_DS080484,OMIM ID:612653 | hereditary spherocytosis type 4 | DOID:0110919 +BMGC_DS21839,BMG_DS080485,OMIM ID:612656 | episodic ataxia type 6 | DOID:0050994 +BMGC_DS21840,BMG_DS080486,PHARC syndrome | OMIM ID:612674 | DOID:0080181 +BMGC_DS21841,BMG_DS080487,OMIM ID:612690 | hereditary spherocytosis type 5 | DOID:0110920 +BMGC_DS21842,BMG_DS080488,OMIM ID:612703 | DOID:0070278 | primary autosomal recessive microcephaly 7 +BMGC_DS21843,BMG_DS080489,AGAT deficiency | DOID:0050712 | OMIM ID:612718 +BMGC_DS21844,BMG_DS080490,leukocyte adhesion deficiency 3 | OMIM ID:612840 | DOID:0110912 +BMGC_DS21845,BMG_DS080491,autosomal dominant keratosis follicularis spinulosa decalvans | DOID:0080755 | OMIM ID:612843 +BMGC_DS21846,BMG_DS080492,DOID:0111322 | idiopathic generalized epilepsy 8 | OMIM ID:612899 +BMGC_DS21847,BMG_DS080493,spastic quadriplegic cerebral palsy 2 | DOID:0081360 | OMIM ID:612900 +BMGC_DS21848,BMG_DS080494,DOID:0110802 | OMIM ID:612936 | hereditary spastic paraplegia 50 +BMGC_DS21849,BMG_DS080495,OMIM ID:612950 | DOID:0111291 | psoriasis 12 +BMGC_DS21850,BMG_DS080496,DOID:0081007 | RNASET2-deficient cystic leukoencephalopathy | OMIM ID:612951 +BMGC_DS21851,BMG_DS080497,myofibrillar myopathy 6 | OMIM ID:612954 | DOID:0080097 +BMGC_DS21852,BMG_DS080498,DOID:0081319 | multiple synostoses syndrome 3 | OMIM ID:612961 +BMGC_DS21853,BMG_DS080499,"46,XY sex reversal 3 | OMIM ID:612965 | DOID:0111772" +BMGC_DS21854,BMG_DS080500,autosomal dominant Emery-Dreifuss muscular dystrophy 4 | DOID:0070249 | OMIM ID:612998 +BMGC_DS21855,BMG_DS080501,DOID:0070359 | primary biliary cholangitis 2 | OMIM ID:613007 +BMGC_DS21856,BMG_DS080502,primary biliary cholangitis 3 | OMIM ID:613008 | DOID:0070360 +BMGC_DS21857,BMG_DS080503,DOID:0061019 | combined or isolated pituitary hormone deficiency 1 | OMIM ID:613038 +BMGC_DS21858,BMG_DS080504,OMIM ID:613060 | DOID:0111292 | idiopathic generalized epilepsy 10 +BMGC_DS21859,BMG_DS080505,atopic dermatitis 7 | DOID:0110103 | OMIM ID:613064 +BMGC_DS21860,BMG_DS080506,DOID:0050719 | OMIM ID:613068 | cerebral folate receptor alpha deficiency +BMGC_DS21861,BMG_DS080507,DOID:0111518 | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | OMIM ID:613077 +BMGC_DS21862,BMG_DS080508,primary congenital glaucoma | DOID:0050593 | OMIM ID:613086 | OMIM ID:613085 +BMGC_DS21863,BMG_DS080509,DOID:0110859 | polycystic kidney disease 2 | OMIM ID:613095 +BMGC_DS21864,BMG_DS080510,familial hemophagocytic lymphohistiocytosis 5 | DOID:0110925 | OMIM ID:613101 +BMGC_DS21865,BMG_DS080511,OMIM ID:613107 | DOID:0112131 | severe congenital neutropenia 2 +BMGC_DS21866,BMG_DS080512,hereditary sensory and autonomic neuropathy type 2B | OMIM ID:613115 | DOID:0070150 +BMGC_DS21867,BMG_DS080513,OMIM ID:613154 | congenital muscular dystrophy-dystroglycanopathy type A6 | DOID:0111242 +BMGC_DS21868,BMG_DS080514,DOID:0060174 | OMIM ID:613163 | GABA aminotransferase deficiency +BMGC_DS21869,BMG_DS080515,DOID:0081098 | OMIM ID:613192 | autosomal recessive intellectual developmental disorder 13 +BMGC_DS21870,BMG_DS080516,ankylosing spondylitis 3 | OMIM ID:613238 | DOID:0080605 +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 | OMIM ID:613266 | DOID:0110955 +BMGC_DS21875,BMG_DS080521,DOID:0080536 | hypermanganesemia with dystonia 1 | OMIM ID:613280 +BMGC_DS21876,BMG_DS080522,OMIM ID:613320 | spondylometaphyseal dysplasia Megarbane-Dagher-Melike type | DOID:0112304 +BMGC_DS21877,BMG_DS080523,DOID:0060997 | rhabdoid tumor predisposition syndrome 2 | OMIM ID:613325 +BMGC_DS21878,BMG_DS080524,OMIM ID:613370 | DOID:0111108 | maturity-onset diabetes of the young type 10 +BMGC_DS21879,BMG_DS080525,DOID:0050979 | OMIM ID:613371 | spinocerebellar ataxia type 30 +BMGC_DS21880,BMG_DS080526,OMIM ID:613375 | maturity-onset diabetes of the young type 11 | DOID:0111109 +BMGC_DS21881,BMG_DS080527,OMIM ID:613435 | DOID:0060203 | amyotrophic lateral sclerosis type 12 +BMGC_DS21882,BMG_DS080528,DOID:0070262 | OMIM ID:613489 | congenital disorder of glycosylation type IIj +BMGC_DS21883,BMG_DS080529,DOID:0081146 | OMIM ID:613493 | common variable immunodeficiency 3 +BMGC_DS21884,BMG_DS080530,OMIM ID:613571 | DOID:0080925 | cytochrome P450 oxidoreductase deficiency +BMGC_DS21885,BMG_DS080531,OMIM ID:613612 | congenital disorder of glycosylation type IIi | DOID:0070261 +BMGC_DS21886,BMG_DS080532,OMIM ID:613630 | fetal encasement syndrome | DOID:0060647 +BMGC_DS21887,BMG_DS080533,OMIM ID:613640 | DOID:0070157 | hereditary sensory and autonomic neuropathy type 1C +BMGC_DS21888,BMG_DS080534,DOID:0111331 | intellectual disability-severe speech delay-mild dysmorphism syndrome | OMIM ID:613670 +BMGC_DS21889,BMG_DS080535,age related macular degeneration 6 | OMIM ID:613757 | DOID:0110018 +BMGC_DS21890,BMG_DS080536,OMIM ID:613869 | fatal infantile hypertonic myofibrillar myopathy | DOID:0080309 +BMGC_DS21891,BMG_DS080537,OMIM ID:613877 | familial partial lipodystrophy type 4 | DOID:0070205 +BMGC_DS21892,BMG_DS080538,OMIM ID:613950 | schizophrenia 15 | DOID:0070091 +BMGC_DS21893,BMG_DS080539,OMIM ID:613970 | autosomal dominant intellectual developmental disorder 6 | DOID:0070036 +BMGC_DS21894,BMG_DS080540,OMIM ID:613988 | DOID:0070019 | autosomal recessive dyskeratosis congenita 3 +BMGC_DS21895,BMG_DS080541,DOID:0070018 | OMIM ID:613990 | autosomal dominant dyskeratosis congenita 3 +BMGC_DS21896,BMG_DS080542,DOID:0081334 | OMIM ID:614008 | Nestor-Guillermo progeria syndrome +BMGC_DS21897,BMG_DS080543,DOID:0111449 | progressive myoclonus epilepsy 6 | OMIM ID:614018 +BMGC_DS21898,BMG_DS080544,autosomal recessive intellectual developmental disorder 14 | OMIM ID:614020 | DOID:0081188 +BMGC_DS21899,BMG_DS080545,DOID:0050724 | OMIM ID:614023 | PSPH deficiency +BMGC_DS21900,BMG_DS080546,psoriasis 13 | OMIM ID:614070 | DOID:0111287 +BMGC_DS21901,BMG_DS080547,chondrodysplasia with joint dislocations gPAPP type | OMIM ID:614078 | DOID:0112224 +BMGC_DS21902,BMG_DS080548,DOID:0080138 | OMIM ID:614080 | multiple congenital anomalies-hypotonia-seizures syndrome 1 +BMGC_DS21903,BMG_DS080549,DOID:0111086 | Fanconi anemia complementation group G | OMIM ID:614082 +BMGC_DS21904,BMG_DS080550,OMIM ID:614096 | DOID:0111479 | combined oxidative phosphorylation deficiency 8 +BMGC_DS21905,BMG_DS080551,OMIM ID:614104 | autosomal dominant intellectual developmental disorder 7 | DOID:0070037 +BMGC_DS21906,BMG_DS080552,autosomal dominant intellectual developmental disorder 2 | OMIM ID:614113 | DOID:0070032 +BMGC_DS21907,BMG_DS080553,OMIM ID:614114 | mosaic variegated aneuploidy syndrome 2 | DOID:0080142 +BMGC_DS21908,BMG_DS080554,DOID:0111356 | hydrolethalus syndrome 2 | OMIM ID:614120 +BMGC_DS21909,BMG_DS080555,DOID:0050983 | OMIM ID:614153 | spinocerebellar ataxia type 36 +BMGC_DS21910,BMG_DS080556,DOID:0111047 | OMIM ID:614158 | platelet-type bleeding disorder 14 +BMGC_DS21911,BMG_DS080557,autosomal recessive intellectual developmental disorder 16 | OMIM ID:614208 | DOID:0081189 +BMGC_DS21912,BMG_DS080558,OMIM ID:614229 | autosomal recessive spinocerebellar ataxia 11 | DOID:0080063 +BMGC_DS21913,BMG_DS080559,DOID:0081190 | OMIM ID:614249 | autosomal recessive intellectual developmental disorder 18 +BMGC_DS21914,BMG_DS080560,OMIM ID:614256 | autosomal dominant intellectual developmental disorder 10 | DOID:0070040 +BMGC_DS21915,BMG_DS080561,"OMIM ID:614279 | DOID:0111773 | 46,XY sex reversal 8" +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 | OMIM ID:614299 | DOID:0080134 +BMGC_DS21919,BMG_DS080565,OMIM ID:614329 | autosomal recessive intellectual developmental disorder 31 | DOID:0081191 +BMGC_DS21920,BMG_DS080566,OMIM ID:614331 | DOID:0070273 | hereditary nonpolyposis colorectal cancer type 6 +BMGC_DS21921,BMG_DS080567,DOID:0081192 | autosomal recessive intellectual developmental disorder 29 | OMIM ID:614333 +BMGC_DS21922,BMG_DS080568,DOID:0081194 | OMIM ID:614341 | autosomal recessive intellectual developmental disorder 33 +BMGC_DS21923,BMG_DS080569,DOID:0081195 | OMIM ID:614342 | autosomal recessive intellectual developmental disorder 30 +BMGC_DS21924,BMG_DS080570,OMIM ID:614344 | autosomal recessive intellectual developmental disorder 23 | DOID:0081196 +BMGC_DS21925,BMG_DS080571,autosomal recessive intellectual developmental disorder 24 | DOID:0081197 | OMIM ID:614345 +BMGC_DS21926,BMG_DS080572,OMIM ID:614346 | autosomal recessive intellectual developmental disorder 25 | DOID:0081198 +BMGC_DS21927,BMG_DS080573,OMIM ID:614347 | DOID:0081199 | autosomal recessive intellectual developmental disorder 28 +BMGC_DS21928,BMG_DS080574,OMIM ID:614385 | DOID:0070276 | hereditary nonpolyposis colorectal cancer type 7 +BMGC_DS21929,BMG_DS080575,early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome | OMIM ID:614399 | DOID:0111333 +BMGC_DS21930,BMG_DS080576,congenital disorder of glycosylation Ir | OMIM ID:614507 | DOID:0080569 +BMGC_DS21931,BMG_DS080577,OMIM ID:614558 | DOID:0080445 | developmental and epileptic encephalopathy 13 +BMGC_DS21932,BMG_DS080578,OMIM ID:614559 | DOID:0050883 | infantile cerebellar-retinal degeneration +BMGC_DS21933,BMG_DS080579,OMIM ID:614576 | congenital disorder of glycosylation type IIl | DOID:0070264 +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,DOID:0111480 | OMIM ID:614702 | combined oxidative phosphorylation deficiency 10 +BMGC_DS21937,BMG_DS080583,Brown-Vialetto-Van Laere syndrome 2 | OMIM ID:614707 | DOID:0080786 +BMGC_DS21938,BMG_DS080584,congenital disorder of glycosylation type IIk | DOID:0070263 | OMIM ID:614727 +BMGC_DS21939,BMG_DS080585,DOID:0050885 | IMAGe syndrome | OMIM ID:614732 +BMGC_DS21940,BMG_DS080586,"OMIM ID:614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | DOID:0110001" +BMGC_DS21941,BMG_DS080587,DOID:0080363 | OMIM ID:614741 | mitochondrial pyruvate carrier deficiency +BMGC_DS21942,BMG_DS080588,Sotos syndrome 2 | DOID:0112102 | OMIM ID:614753 +BMGC_DS21943,BMG_DS080589,OMIM ID:614807 | centronuclear myopathy 4 | DOID:0111224 +BMGC_DS21944,BMG_DS080590,DOID:0111313 | OMIM ID:614847 | idiopathic generalized epilepsy 12 +BMGC_DS21945,BMG_DS080591,DOID:0080478 | peroxisome biogenesis disorder 3A | OMIM ID:614859 +BMGC_DS21946,BMG_DS080592,DOID:0080479 | OMIM ID:614862 | peroxisome biogenesis disorder 4A +BMGC_DS21947,BMG_DS080593,DOID:0080481 | OMIM ID:614870 | peroxisome biogenesis disorder 6A +BMGC_DS21948,BMG_DS080594,Peroxisome biogenesis disorder 6B | DOID:0081435 | OMIM ID:614871 +BMGC_DS21949,BMG_DS080595,OMIM ID:614873 | Peroxisome biogenesis disorder 7B | DOID:0081436 +BMGC_DS21950,BMG_DS080596,peroxisome biogenesis disorder 8A | OMIM ID:614876 | DOID:0080483 +BMGC_DS21951,BMG_DS080597,Peroxisome biogenesis disorder 8B | OMIM ID:614877 | DOID:0081437 +BMGC_DS21952,BMG_DS080598,Peroxisome biogenesis disorder 9B | OMIM ID:614879 | DOID:0081438 +BMGC_DS21953,BMG_DS080599,OMIM ID:614881 | autosomal recessive distal hereditary motor neuronopathy 5 | DOID:0111214 +BMGC_DS21954,BMG_DS080600,DOID:0080570 | OMIM ID:614921 | congenital disorder of glycosylation It +BMGC_DS21955,BMG_DS080601,OMIM ID:614922 | DOID:0111481 | combined oxidative phosphorylation deficiency 11 +BMGC_DS21956,BMG_DS080602,OMIM ID:614924 | combined oxidative phosphorylation deficiency 12 | DOID:0111493 +BMGC_DS21957,BMG_DS080603,DOID:0111467 | combined oxidative phosphorylation deficiency 13 | OMIM ID:614932 +BMGC_DS21958,BMG_DS080604,DOID:0111477 | combined oxidative phosphorylation deficiency 14 | OMIM ID:614946 +BMGC_DS21959,BMG_DS080605,OMIM ID:614947 | combined oxidative phosphorylation deficiency 15 | DOID:0111491 +BMGC_DS21960,BMG_DS080606,OMIM ID:614959 | developmental and epileptic encephalopathy 14 | DOID:0080439 +BMGC_DS21961,BMG_DS080607,OMIM ID:615009 | Schuurs-Hoeijmakers Syndrome | DOID:0070047 +BMGC_DS21962,BMG_DS080608,OMIM ID:615042 | DOID:0080571 | congenital disorder of glycosylation Iu +BMGC_DS21963,BMG_DS080609,DOID:0111594 | OMIM ID:615065 | distal arthrogryposis type 5D +BMGC_DS21964,BMG_DS080610,OMIM ID:615162 | autosomal recessive intellectual developmental disorder 35 | DOID:0081201 +BMGC_DS21965,BMG_DS080611,DOID:0081111 | OMIM ID:615198 | osteosclerotic metaphyseal dysplasia +BMGC_DS21966,BMG_DS080612,OMIM ID:615232 | schizophrenia 18 | DOID:0070093 +BMGC_DS21967,BMG_DS080613,DOID:0070203 | familial partial lipodystrophy type 5 | OMIM ID:615238 +BMGC_DS21968,BMG_DS080614,"DOID:0081099 | neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies | OMIM ID:615286" +BMGC_DS21969,BMG_DS080615,spinal muscular atrophy with lower extremity predominant 2A | OMIM ID:615290 | DOID:0070349 +BMGC_DS21970,BMG_DS080616,OMIM ID:615312 | oculocutaneous albinism type V | DOID:0070099 +BMGC_DS21971,BMG_DS080617,OMIM ID:615330 | multiple mitochondrial dysfunctions syndrome 3 | DOID:0080135 +BMGC_DS21972,BMG_DS080618,OMIM ID:615346 | central precocious puberty 2 | DOID:0112309 +BMGC_DS21973,BMG_DS080619,OMIM ID:615386 | DOID:0080058 | autosomal recessive spinocerebellar ataxia 14 +BMGC_DS21974,BMG_DS080620,coronin-1A deficiency | DOID:0060019 | OMIM ID:615401 +BMGC_DS21975,BMG_DS080621,DOID:0080131 | OMIM ID:615471 | mitochondrial DNA depletion syndrome 13 +BMGC_DS21976,BMG_DS080622,DOID:0080893 | OMIM ID:615485 | Bainbridge-Ropers syndrome +BMGC_DS21977,BMG_DS080623,DOID:0081202 | OMIM ID:615493 | autosomal recessive intellectual developmental disorder 37 +BMGC_DS21978,BMG_DS080624,OMIM ID:615502 | DOID:0070051 | autosomal dominant intellectual developmental disorder 21 +BMGC_DS21979,BMG_DS080625,"alacrima, achalasia, and impaired intellectual development syndrome | DOID:0112321 | OMIM ID:615510" +BMGC_DS21980,BMG_DS080626,OMIM ID:615558 | familial hypobetalipoproteinemia 1 | DOID:0111062 +BMGC_DS21981,BMG_DS080627,OMIM ID:615575 | autosomal dominant distal hereditary motor neuronopathy 6 | DOID:0111210 +BMGC_DS21982,BMG_DS080628,DOID:0080573 | congenital disorder of glycosylation Ix | OMIM ID:615597 +BMGC_DS21983,BMG_DS080629,OMIM ID:615637 | autosomal recessive intellectual developmental disorder 41 | DOID:0081206 +BMGC_DS21984,BMG_DS080630,OMIM ID:615705 | autosomal recessive spinocerebellar ataxia 15 | DOID:0080057 +BMGC_DS21985,BMG_DS080631,OMIM ID:615722 | Bosch-Boonstra-Schaaf optic atrophy syndrome | DOID:0112226 +BMGC_DS21986,BMG_DS080632,OMIM ID:615744 | DOID:0080431 | developmental and epileptic encephalopathy 19 +BMGC_DS21987,BMG_DS080633,DOID:0070053 | autosomal dominant intellectual developmental disorder 23 | OMIM ID:615761 +BMGC_DS21988,BMG_DS080634,OMIM ID:615767 | DOID:0081153 | common variable immunodeficiency 11 +BMGC_DS21989,BMG_DS080635,autosomal recessive spinocerebellar ataxia 16 | OMIM ID:615768 | DOID:0080029 +BMGC_DS21990,BMG_DS080636,pontocerebellar hypoplasia type 10 | DOID:0060279 | OMIM ID:615803 +BMGC_DS21991,BMG_DS080637,autosomal recessive intellectual developmental disorder 43 | OMIM ID:615817 | DOID:0081207 +BMGC_DS21992,BMG_DS080638,DOID:0070056 | autosomal dominant intellectual developmental disorder 26 | OMIM ID:615834 +BMGC_DS21993,BMG_DS080639,DOID:0080328 | Culler-Jones syndrome | OMIM ID:615849 +BMGC_DS21994,BMG_DS080640,OMIM ID:615873 | Helsmoortel-Van Der Aa Syndrome | DOID:0070058 +BMGC_DS21995,BMG_DS080641,progressive familial intrahepatic cholestasis 4 | OMIM ID:615878 | DOID:0070224 +BMGC_DS21996,BMG_DS080642,DOID:0112339 | OMIM ID:615879 | Tatton-Brown-Rahman syndrome +BMGC_DS21997,BMG_DS080643,orofacial cleft 14 | OMIM ID:615892 | DOID:0080407 +BMGC_DS21998,BMG_DS080644,DOID:0080453 | OMIM ID:615905 | developmental and epileptic encephalopathy 25 +BMGC_DS21999,BMG_DS080645,combined oxidative phosphorylation deficiency 21 | DOID:0111465 | OMIM ID:615918 +BMGC_DS22000,BMG_DS080646,OMIM ID:615942 | DOID:0081208 | autosomal recessive intellectual developmental disorder 44 +BMGC_DS22001,BMG_DS080647,orofaciodigital syndrome XIV | DOID:0060958 | OMIM ID:615948 +BMGC_DS22002,BMG_DS080648,OMIM ID:615957 | spinocerebellar ataxia type 38 | DOID:0050985 +BMGC_DS22003,BMG_DS080649,DOID:0081209 | autosomal recessive intellectual developmental disorder 45 | OMIM ID:615979 +BMGC_DS22004,BMG_DS080650,DOID:0070206 | familial partial lipodystrophy type 6 | OMIM ID:615980 +BMGC_DS22005,BMG_DS080651,OMIM ID:616022 | DOID:0112134 | severe congenital neutropenia 6 +BMGC_DS22006,BMG_DS080652,DOID:0050986 | OMIM ID:616053 | spinocerebellar ataxia type 40 +BMGC_DS22007,BMG_DS080653,DOID:0050996 | episodic ataxia type 8 | OMIM ID:616055 +BMGC_DS22008,BMG_DS080654,developmental and epileptic encephalopathy 26 | OMIM ID:616056 | DOID:0080461 +BMGC_DS22009,BMG_DS080655,DOID:0070059 | autosomal dominant intellectual developmental disorder 29 | OMIM ID:616078 +BMGC_DS22010,BMG_DS080656,DOID:0112381 | OMIM ID:616094 | muscular dystrophy-dystroglycanopathy type C12 +BMGC_DS22011,BMG_DS080657,psoriasis 15 | OMIM ID:616106 | DOID:0111281 +BMGC_DS22012,BMG_DS080658,DOID:0081210 | autosomal recessive intellectual developmental disorder 46 | OMIM ID:616116 +BMGC_DS22013,BMG_DS080659,DOID:0080064 | autosomal recessive spinocerebellar ataxia 17 | OMIM ID:616127 +BMGC_DS22014,BMG_DS080660,rhizomelic chondrodysplasia punctate type 4 | DOID:0081243 | OMIM ID:616154 +BMGC_DS22015,BMG_DS080661,OMIM ID:616198 | combined oxidative phosphorylation deficiency 23 | DOID:0111500 +BMGC_DS22016,BMG_DS080662,OMIM ID:616200 | DOID:0111264 | Ruijs-Aalfs syndrome +BMGC_DS22017,BMG_DS080663,DOID:0060339 | OMIM ID:616201 | chronic atrial and intestinal dysrhythmia +BMGC_DS22018,BMG_DS080664,OMIM ID:616209 | isolated mitochondrial myopathy | DOID:0081357 +BMGC_DS22019,BMG_DS080665,lissencephaly 6 | OMIM ID:616212 | DOID:0112236 +BMGC_DS22020,BMG_DS080666,OMIM ID:616230 | progressive myoclonus epilepsy 8 | DOID:0111451 +BMGC_DS22021,BMG_DS080667,combined oxidative phosphorylation deficiency 24 | OMIM ID:616239 | DOID:0111485 +BMGC_DS22022,BMG_DS080668,congenital limbs-face contractures-hypotonia-developmental delay syndrome | DOID:0081048 | OMIM ID:616266 +BMGC_DS22023,BMG_DS080669,DOID:0070062 | OMIM ID:616268 | Arboleda-Tham syndrome +BMGC_DS22024,BMG_DS080670,OMIM ID:616269 | autosomal recessive intellectual developmental disorder 48 | DOID:0081212 +BMGC_DS22025,BMG_DS080671,primary coenzyme Q10 deficiency 7 | DOID:0070244 | OMIM ID:616276 +BMGC_DS22026,BMG_DS080672,OMIM ID:616278 | congenital bile acid synthesis defect 5 | DOID:0111066 +BMGC_DS22027,BMG_DS080673,autosomal recessive spinocerebellar ataxia 19 | DOID:0080065 | OMIM ID:616291 +BMGC_DS22028,BMG_DS080674,OMIM ID:616311 | autosomal dominant intellectual developmental disorder 33 | DOID:0070063 +BMGC_DS22029,BMG_DS080675,DOID:0080437 | developmental and epileptic encephalopathy 31A | OMIM ID:616346 +BMGC_DS22030,BMG_DS080676,OMIM ID:616351 | autosomal dominant intellectual developmental disorder 34 | DOID:0070064 +BMGC_DS22031,BMG_DS080677,DOID:0080066 | autosomal recessive spinocerebellar ataxia 20 | OMIM ID:616354 +BMGC_DS22032,BMG_DS080678,autosomal dominant intellectual developmental disorder 36 | DOID:0070066 | OMIM ID:616362 +BMGC_DS22033,BMG_DS080679,DOID:0070067 | White-Sutton syndrome | OMIM ID:616364 +BMGC_DS22034,BMG_DS080680,DOID:0080416 | developmental and epileptic encephalopathy 32 | OMIM ID:616366 +BMGC_DS22035,BMG_DS080681,OMIM ID:616367 | DOID:0060365 | mandibulofacial dysostosis with alopecia +BMGC_DS22036,BMG_DS080682,OMIM ID:616370 | DOID:0080136 | multiple mitochondrial dysfunctions syndrome 4 +BMGC_DS22037,BMG_DS080683,OMIM ID:616393 | DOID:0070068 | autosomal dominant intellectual developmental disorder 38 +BMGC_DS22038,BMG_DS080684,cerebellar ataxia type 41 | OMIM ID:616410 | DOID:0111744 +BMGC_DS22039,BMG_DS080685,"autoimmune interstitial lung, joint, and kidney disease | DOID:0081242 | OMIM ID:616414" +BMGC_DS22040,BMG_DS080686,DOID:0060788 | hypomyelinating leukodystrophy 10 | OMIM ID:616420 +BMGC_DS22041,BMG_DS080687,DOID:0060475 | OMIM ID:616421 | myoclonic-atonic epilepsy +BMGC_DS22042,BMG_DS080688,OMIM ID:616430 | DOID:0111468 | combined oxidative phosphorylation deficiency 25 +BMGC_DS22043,BMG_DS080689,hereditary spastic paraplegia 74 | DOID:0110819 | OMIM ID:616451 +BMGC_DS22044,BMG_DS080690,OMIM ID:616457 | DOID:0080419 | developmental and epileptic encephalopathy 50 +BMGC_DS22045,BMG_DS080691,OMIM ID:616460 | DOID:0081213 | autosomal recessive intellectual developmental disorder 50 +BMGC_DS22046,BMG_DS080692,DOID:0070153 | hereditary sensory and autonomic neuropathy type 8 | OMIM ID:616488 +BMGC_DS22047,BMG_DS080693,DOID:0110178 | Charcot-Marie-Tooth disease axonal type 2V | OMIM ID:616491 +BMGC_DS22048,BMG_DS080694,OMIM ID:616502 | cone-rod dystrophy 21 | DOID:0081447 +BMGC_DS22049,BMG_DS080695,OMIM ID:616516 | DOID:0070248 | autosomal recessive Emery-Dreifuss muscular dystrophy 3 +BMGC_DS22050,BMG_DS080696,DOID:0111490 | combined oxidative phosphorylation deficiency 26 | OMIM ID:616539 +BMGC_DS22051,BMG_DS080697,progressive myoclonus epilepsy 9 | OMIM ID:616540 | DOID:0111450 +BMGC_DS22052,BMG_DS080698,OMIM ID:616549 | Klippel-Feil syndrome 4 | DOID:0080592 +BMGC_DS22053,BMG_DS080699,DOID:0112281 | spondyloepiphyseal dysplasia Stanescu type | OMIM ID:616583 +BMGC_DS22054,BMG_DS080700,OMIM ID:616622 | DOID:0111940 | immunodeficiency 42 +BMGC_DS22055,BMG_DS080701,"OMIM ID:616625 | Charcot-Marie-Tooth disease, axonal type 2W | DOID:0110162" +BMGC_DS22056,BMG_DS080702,developmental and epileptic encephalopathy 35 | DOID:0080458 | OMIM ID:616647 +BMGC_DS22057,BMG_DS080703,DOID:0110176 | OMIM ID:616668 | Charcot-Marie-Tooth disease axonal type 2X +BMGC_DS22058,BMG_DS080704,DOID:0111489 | OMIM ID:616672 | combined oxidative phosphorylation deficiency 27 +BMGC_DS22059,BMG_DS080705,DOID:0111315 | idiopathic generalized epilepsy 14 | 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 | OMIM ID:616716 | DOID:0110854 +BMGC_DS22062,BMG_DS080708,congenital disorder of glycosylation type IIn | DOID:0070266 | OMIM ID:616721 +BMGC_DS22063,BMG_DS080709,DOID:0112243 | congenital symmetric circumferential skin creases 2 | OMIM ID:616734 +BMGC_DS22064,BMG_DS080710,DOID:0080408 | OMIM ID:616788 | orofacial cleft 15 +BMGC_DS22065,BMG_DS080711,DOID:0111470 | OMIM ID:616794 | combined oxidative phosphorylation deficiency 28 +BMGC_DS22066,BMG_DS080712,OMIM ID:616795 | cerebellar ataxia type 42 | DOID:0111742 +BMGC_DS22067,BMG_DS080713,combined oxidative phosphorylation deficiency 29 | DOID:0111501 | OMIM ID:616811 +BMGC_DS22068,BMG_DS080714,OMIM ID:616812 | DOID:0110290 | autosomal recessive limb-girdle muscular dystrophy type 2X +BMGC_DS22069,BMG_DS080715,autosomal recessive limb-girdle muscular dystrophy type 2W | OMIM ID:616827 | DOID:0110288 +BMGC_DS22070,BMG_DS080716,OMIM ID:616828 | congenital disorder of glycosylation type IIo | DOID:0070267 +BMGC_DS22071,BMG_DS080717,congenital disorder of glycosylation type IIp | OMIM ID:616829 | DOID:0070268 +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,OMIM ID:616903 | poor metabolism of thiopurines 2 | DOID:0060996 +BMGC_DS22075,BMG_DS080721,OMIM ID:616907 | DOID:0110821 | hereditary spastic paraplegia 76 +BMGC_DS22076,BMG_DS080722,OMIM ID:616949 | DOID:0111613 | autosomal recessive spinocerebellar ataxia 23 +BMGC_DS22077,BMG_DS080723,OMIM ID:616973 | DOID:0070072 | autosomal dominant intellectual developmental disorder 42 +BMGC_DS22078,BMG_DS080724,combined oxidative phosphorylation deficiency 30 | OMIM ID:616974 | DOID:0111471 +BMGC_DS22079,BMG_DS080725,autosomal dominant intellectual developmental disorder 43 | DOID:0070073 | OMIM ID:616977 +BMGC_DS22080,BMG_DS080726,DOID:0080537 | OMIM ID:617013 | hypermanganesemia with dystonia 2 +BMGC_DS22081,BMG_DS080727,OMIM ID:617099 | DOID:0080163 | otulipenia +BMGC_DS22082,BMG_DS080728,OMIM ID:617106 | developmental and epileptic encephalopathy 42 | DOID:0080454 +BMGC_DS22083,BMG_DS080729,OMIM ID:617111 | patterned macular dystrophy 3 | DOID:0060865 +BMGC_DS22084,BMG_DS080730,developmental and epileptic encephalopathy 46 | OMIM ID:617162 | DOID:0080456 +BMGC_DS22085,BMG_DS080731,DOID:0081008 | intellectual developmental disorder with cardiac arrhythmia | OMIM ID:617173 +BMGC_DS22086,BMG_DS080732,OMIM ID:617183 | DOID:0081395 | Harel-Yoon syndrome +BMGC_DS22087,BMG_DS080733,DOID:0081219 | OMIM ID:617188 | autosomal recessive intellectual developmental disorder 57 +BMGC_DS22088,BMG_DS080734,OMIM ID:617193 | DOID:0070423 | early onset progressive encephalopathy with brain atrophy and thin corpus callosum +BMGC_DS22089,BMG_DS080735,hereditary spastic paraplegia 78 | DOID:0112348 | OMIM ID:617225 +BMGC_DS22090,BMG_DS080736,DOID:0080762 | autosomal recessive limb-girdle muscular dystrophy type 2Z | OMIM ID:617232 +BMGC_DS22091,BMG_DS080737,OMIM ID:617270 | autosomal recessive intellectual developmental disorder 58 | DOID:0081220 +BMGC_DS22092,BMG_DS080738,OMIM ID:617282 | DOID:0081419 | childhood-onset dystonia with optic atrophy and basal ganglia abnormalities +BMGC_DS22093,BMG_DS080739,amelogenesis imperfecta type 1J | OMIM ID:617297 | DOID:0080953 +BMGC_DS22094,BMG_DS080740,OMIM ID:617319 | DOID:0080613 | anterior segment dysgenesis 8 +BMGC_DS22095,BMG_DS080741,DOID:0081221 | autosomal recessive intellectual developmental disorder 59 | OMIM ID:617323 +BMGC_DS22096,BMG_DS080742,OMIM ID:617395 | DOID:0070269 | congenital disorder of glycosylation type IIq +BMGC_DS22097,BMG_DS080743,autosomal recessive intellectual developmental disorder 60 | OMIM ID:617432 | DOID:0081222 +BMGC_DS22098,BMG_DS080744,"OMIM ID:617480 | DOID:0111764 | 46,XX sex reversal 4" +BMGC_DS22099,BMG_DS080745,pituitary adenoma 5 | DOID:0112008 | OMIM ID:617540 +BMGC_DS22100,BMG_DS080746,DOID:0080252 | OMIM ID:617560 | spastic ataxia 8 +BMGC_DS22101,BMG_DS080747,OMIM ID:617571 | DOID:0080258 | autosomal recessive congenital ichthyosis 14 +BMGC_DS22102,BMG_DS080748,autosomal recessive congenital ichthyosis 13 | OMIM ID:617574 | DOID:0080257 +BMGC_DS22103,BMG_DS080749,autosomal dominant intellectual developmental disorder 45 | OMIM ID:617600 | DOID:0080236 +BMGC_DS22104,BMG_DS080750,OMIM ID:617601 | autosomal dominant intellectual developmental disorder 46 | DOID:0080237 +BMGC_DS22105,BMG_DS080751,DOID:0080274 | OMIM ID:617613 | multiple mitochondrial dysfunctions syndrome 5 +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,DOID:0070002 | 3-methylglutaconic aciduria type 9 | OMIM ID:617698 +BMGC_DS22111,BMG_DS080757,OMIM ID:617713 | combined oxidative phosphorylation deficiency 33 | DOID:0111495 +BMGC_DS22112,BMG_DS080758,OMIM ID:617719 | multiple epiphyseal dysplasia 7 | DOID:0070302 +BMGC_DS22113,BMG_DS080759,autosomal dominant intellectual developmental disorder 48 | DOID:0080235 | OMIM ID:617751 +BMGC_DS22114,BMG_DS080760,DOID:0080287 | spinocerebellar ataxia 45 | OMIM ID:617769 +BMGC_DS22115,BMG_DS080761,DOID:0080288 | OMIM ID:617770 | spinocerebellar ataxia 46 +BMGC_DS22116,BMG_DS080762,autosomal recessive intellectual developmental disorder 61 | OMIM ID:617773 | DOID:0080239 +BMGC_DS22117,BMG_DS080763,OMIM ID:617787 | DOID:0080233 | autosomal dominant intellectual developmental disorder 50 +BMGC_DS22118,BMG_DS080764,DOID:0080232 | autosomal dominant intellectual developmental disorder 51 | OMIM ID:617788 +BMGC_DS22119,BMG_DS080765,autosomal dominant intellectual developmental disorder 52 | DOID:0080231 | OMIM ID:617796 +BMGC_DS22120,BMG_DS080766,OMIM ID:617798 | autosomal dominant intellectual developmental disorder 53 | DOID:0080228 +BMGC_DS22121,BMG_DS080767,OMIM ID:617799 | DOID:0080230 | autosomal dominant intellectual developmental disorder 54 +BMGC_DS22122,BMG_DS080768,OMIM ID:617809 | geleophysic dysplasia 3 | DOID:0111727 +BMGC_DS22123,BMG_DS080769,OMIM ID:617827 | DOID:0111993 | immunodeficiency 55 +BMGC_DS22124,BMG_DS080770,amyotrophic lateral sclerosis type 23 | DOID:0080225 | OMIM ID:617839 +BMGC_DS22125,BMG_DS080771,OMIM ID:617854 | DOID:0080226 | autosomal dominant intellectual developmental disorder 56 +BMGC_DS22126,BMG_DS080772,DOID:0111497 | OMIM ID:617872 | combined oxidative phosphorylation deficiency 34 +BMGC_DS22127,BMG_DS080773,DOID:0081378 | amyotrophic lateral sclerosis type 24 | OMIM ID:617892 +BMGC_DS22128,BMG_DS080774,amyotrophic lateral sclerosis type 25 | DOID:0081379 | OMIM ID:617921 +BMGC_DS22129,BMG_DS080775,OMIM ID:617924 | juvenile myoclonic epilepsy 10 | DOID:0111325 +BMGC_DS22130,BMG_DS080776,DOID:0060961 | OMIM ID:617927 | orofaciodigital syndrome XVIII +BMGC_DS22131,BMG_DS080777,OMIM ID:617954 | DOID:0070332 | multiple mitochondrial dysfunctions syndrome 6 +BMGC_DS22132,BMG_DS080778,DOID:0080732 | Ehlers-Danlos syndrome classic-like 2 | OMIM ID:618000 +BMGC_DS22133,BMG_DS080779,autosomal recessive intellectual developmental disorder 63 | OMIM ID:618095 | DOID:0081224 +BMGC_DS22134,BMG_DS080780,autosomal recessive intellectual developmental disorder 64 | DOID:0081225 | OMIM ID:618103 +BMGC_DS22135,BMG_DS080781,OMIM ID:618109 | DOID:0081226 | autosomal recessive intellectual developmental disorder 65 +BMGC_DS22136,BMG_DS080782,DOID:0112207 | developmental and epileptic encephalopathy 71 | OMIM ID:618328 +BMGC_DS22137,BMG_DS080783,DOID:0111316 | idiopathic generalized epilepsy 15 | OMIM ID:618357 +BMGC_DS22138,BMG_DS080784,DOID:0112209 | OMIM ID:618379 | developmental and epileptic encephalopathy 73 +BMGC_DS22139,BMG_DS080785,OMIM ID:618395 | DOID:0112200 | spondyloepimetaphyseal dysplasia with joint laxity type 3 +BMGC_DS22140,BMG_DS080786,OMIM ID:618397 | combined oxidative phosphorylation deficiency 39 | DOID:0111475 +BMGC_DS22141,BMG_DS080787,DOID:0081346 | OMIM ID:618414 | congenital myopathy 14 +BMGC_DS22142,BMG_DS080788,DOID:0110649 | OMIM ID:618447 | long QT syndrome 8 +BMGC_DS22143,BMG_DS080789,OMIM ID:618573 | DOID:0111836 | congenital nongoitrous hypothyroidism 7 +BMGC_DS22144,BMG_DS080790,spondyloepiphyseal dysplasia Nishimura type | OMIM ID:618618 | DOID:0112288 +BMGC_DS22145,BMG_DS080791,primary ciliary dyskinesia 42 | DOID:0111855 | OMIM ID:618695 +BMGC_DS22146,BMG_DS080792,congenital megabladder | OMIM ID:618719 | DOID:0112014 +BMGC_DS22147,BMG_DS080793,DOID:0112117 | OMIM ID:618835 | combined oxidative phosphorylation deficiency 40 +BMGC_DS22148,BMG_DS080794,DOID:0060969 | galactosemia 4 | OMIM ID:618881 +BMGC_DS22149,BMG_DS080795,OMIM ID:618940 | oculopharyngodistal myopathy 2 | DOID:0081298 +BMGC_DS22150,BMG_DS080796,spondylometaphyseal dysplasia with corneal dystrophy | DOID:0112303 | OMIM ID:618961 +BMGC_DS22151,BMG_DS080797,OMIM ID:619151 | DOID:0080952 | AMED syndrome +BMGC_DS22152,BMG_DS080798,DOID:0112306 | Mahvash Disease | 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 | OMIM ID:619931 | DOID:0081235 +BMGC_DS22155,BMG_DS080801,DOID:0081236 | autosomal recessive intellectual developmental disorder 77 | OMIM ID:619988 +BMGC_DS22156,BMG_DS080802,OMIM ID:620033 | DOID:0070393 | developmental and epileptic encephalopathy 107 +BMGC_DS22157,BMG_DS080803,OMIM ID:620323 | hereditary spastic paraplegia 70 | DOID:0070454 +BMGC_DS22158,BMG_DS080804,DOID:0070366 | nevoid basal cell carcinoma syndrome 2 | OMIM ID:620343 +BMGC_DS22159,BMG_DS080805,bradyopsia 2 | OMIM ID:620344 | DOID:0070364 +BMGC_DS22160,BMG_DS080806,DOID:0070551 | epidermolytic palmoplantar keratoderma 2 | OMIM ID:620411 +BMGC_DS22161,BMG_DS080807,spermatogenic failure 95 | OMIM ID:620917 | DOID:0070594 +BMGC_DS22162,BMG_DS080808,congenital dyserythropoietic anemia type IVb | OMIM ID:620969 | DOID:0051002 +BMGC_DS22163,BMG_DS080809,primary cutaneous amyloidosis | OMIM ID:PS105250 | DOID:0050639 +BMGC_DS22164,BMG_DS080810,OMIM ID:PS105800 | intracranial berry aneurysm | DOID:0060228 +BMGC_DS22165,BMG_DS080811,OMIM ID:PS108120 | DOID:0050646 | distal arthrogryposis +BMGC_DS22166,BMG_DS080812,OMIM ID:PS108300 | Stickler syndrome | DOID:0080046 +BMGC_DS22167,BMG_DS080813,DOID:0060669 | cerebral cavernous malformation | OMIM ID:PS116860 +BMGC_DS22168,BMG_DS080814,OMIM ID:PS119530 | orofacial cleft | DOID:0050567 +BMGC_DS22169,BMG_DS080815,familial febrile seizures | OMIM ID:PS121210 | DOID:0111297 +BMGC_DS22170,BMG_DS080816,DOID:0080033 | craniometaphyseal dysplasia | OMIM ID:PS123000 +BMGC_DS22171,BMG_DS080817,DOID:0080724 | OMIM ID:PS127000 | Kenny-Caffey syndrome +BMGC_DS22172,BMG_DS080818,retinal macular dystrophy | DOID:0070438 | OMIM ID:PS136550 +BMGC_DS22173,BMG_DS080819,OMIM ID:PS145420 | Teebi hypertelorism syndrome | DOID:0081073 +BMGC_DS22174,BMG_DS080820,DOID:0080545 | hyper IgE syndrome | OMIM ID:PS147060 +BMGC_DS22175,BMG_DS080821,DOID:0081370 | LADD syndrome | OMIM ID:PS149730 +BMGC_DS22176,BMG_DS080822,OMIM ID:PS156200 | DOID:0060307 | autosomal dominant intellectual developmental disorder +BMGC_DS22177,BMG_DS080823,DOID:0112241 | OMIM ID:PS156610 | multiple benign circumferential skin creases on limbs +BMGC_DS22178,BMG_DS080824,OMIM ID:PS158600 | DOID:0070348 | spinal muscular atrophy with lower extremity predominant +BMGC_DS22179,BMG_DS080825,DOID:0080683 | OMIM ID:PS161050 | nonsyndromic congenital nail disorder +BMGC_DS22180,BMG_DS080826,oculopharyngodistal myopathy | DOID:0081296 | OMIM ID:PS164310 +BMGC_DS22181,BMG_DS080827,DOID:0080322 | OMIM ID:PS173900 | polycystic kidney disease +BMGC_DS22182,BMG_DS080828,OMIM ID:PS175780 | brain small vessel disease | DOID:0112313 +BMGC_DS22183,BMG_DS080829,OMIM ID:PS176670 | DOID:0081332 | progeroid syndrome +BMGC_DS22184,BMG_DS080830,autosomal dominant distal hereditary motor neuronopathy | DOID:0111198 | OMIM ID:PS182960 +BMGC_DS22185,BMG_DS080831,proximal symphalangism | OMIM ID:PS185800 | DOID:0050788 +BMGC_DS22186,BMG_DS080832,DOID:0050794 | OMIM ID:PS186500 | multiple synostoses syndrome +BMGC_DS22187,BMG_DS080833,DOID:0080620 | OMIM ID:PS202200 | familial glucocorticoid deficiency +BMGC_DS22188,BMG_DS080834,DOID:0080627 | OMIM ID:PS203650 | alopecia-mental retardation syndrome +BMGC_DS22189,BMG_DS080835,ARC syndrome | OMIM ID:PS208085 | DOID:0050763 +BMGC_DS22190,BMG_DS080836,DOID:0050710 | 3-methylcrotonyl-CoA carboxylase deficiency | OMIM ID:PS210200 +BMGC_DS22191,BMG_DS080837,OMIM ID:PS212065 | congenital disorder of glycosylation type I | DOID:0050570 +BMGC_DS22192,BMG_DS080838,autosomal recessive cerebellar ataxia | OMIM ID:PS213200 | DOID:0050950 +BMGC_DS22193,BMG_DS080839,"OMIM ID:PS213980 | craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | DOID:0081072" +BMGC_DS22194,BMG_DS080840,OMIM ID:PS214100 | DOID:0080377 | peroxisomal biogenesis disorder +BMGC_DS22195,BMG_DS080841,cerebrooculofacioskeletal syndrome | OMIM ID:PS214150 | DOID:0080910 +BMGC_DS22196,BMG_DS080842,congenital diarrhea | OMIM ID:PS214700 | DOID:0060774 +BMGC_DS22197,BMG_DS080843,OMIM ID:PS236670 | congenital muscular dystrophy-dystroglycanopathy type A | DOID:0111229 +BMGC_DS22198,BMG_DS080844,OMIM ID:PS243300 | benign recurrent intrahepatic cholestasis | DOID:0070230 +BMGC_DS22199,BMG_DS080845,OMIM ID:PS243310 | DOID:0060229 | Baraitser-Winter syndrome +BMGC_DS22200,BMG_DS080846,DOID:0081127 | mandibuloacral dysplasia | OMIM ID:PS248370 +BMGC_DS22201,BMG_DS080847,DOID:0060308 | OMIM ID:PS249500 | autosomal recessive intellectual developmental disorder +BMGC_DS22202,BMG_DS080848,DOID:0070296 | OMIM ID:PS251200 | primary autosomal recessive microcephaly +BMGC_DS22203,BMG_DS080849,nuclear type mitochondrial complex I deficiency | DOID:0112065 | OMIM ID:PS252010 +BMGC_DS22204,BMG_DS080850,proteosome-associated autoinflammatory syndrome | OMIM ID:PS256040 | DOID:0060913 +BMGC_DS22205,BMG_DS080851,spermatogenic failure | OMIM ID:PS258150 | DOID:0111910 +BMGC_DS22206,BMG_DS080852,DOID:0050877 | pancreatic agenesis | OMIM ID:PS260370 +BMGC_DS22207,BMG_DS080853,congenital bilateral absence of vas deferens | DOID:0111862 | OMIM ID:PS277180 +BMGC_DS22208,BMG_DS080854,DOID:0050568 | spondylocostal dysostosis | OMIM ID:PS277300 +BMGC_DS22209,BMG_DS080855,ectodermal dysplasia and immune deficiency | OMIM ID:PS300291 | DOID:0081077 +BMGC_DS22210,BMG_DS080856,DOID:0050798 | OMIM ID:PS300352 | cerebral creatine deficiency syndrome +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 | OMIM ID:PS309510 | DOID:0060309 +BMGC_DS22214,BMG_DS080860,DOID:0080636 | syndromic microphthalmia | OMIM ID:PS309800 +BMGC_DS22215,BMG_DS080861,MLS syndrome | OMIM ID:PS309801 | DOID:0111875 +BMGC_DS22216,BMG_DS080862,hypomyelinating leukodystrophy | DOID:0060786 | OMIM ID:PS312080 +BMGC_DS22217,BMG_DS080863,OMIM ID:PS400043 | Y-linked deafness | DOID:0111757 +BMGC_DS22218,BMG_DS080864,OMIM ID:PS600721 | DOID:0050575 | D-2-hydroxyglutaric aciduria +BMGC_DS22219,BMG_DS080865,benign familial infantile epilepsy | DOID:0060169 | OMIM ID:PS601764 +BMGC_DS22220,BMG_DS080866,OMIM ID:PS603041 | mitochondrial DNA depletion syndrome | DOID:0070329 +BMGC_DS22221,BMG_DS080867,DOID:0111197 | OMIM ID:PS604320 | autosomal recessive distal hereditary motor neuronopathy +BMGC_DS22222,BMG_DS080868,advanced sleep phase syndrome | DOID:0050628 | OMIM ID:PS604348 +BMGC_DS22223,BMG_DS080869,DOID:0081420 | familial focal epilepsy with variable foci | OMIM ID:PS604364 +BMGC_DS22224,BMG_DS080870,OMIM ID:PS607426 | coenzyme Q10 deficiency disease | DOID:0050730 +BMGC_DS22225,BMG_DS080871,congenital generalized lipodystrophy | DOID:0050585 | OMIM ID:PS608594 +BMGC_DS22226,BMG_DS080872,DOID:0060286 | combined oxidative phosphorylation deficiency | OMIM ID:PS609060 +BMGC_DS22227,BMG_DS080873,Kleefstra syndrome | OMIM ID:PS610253 | DOID:0080597 +BMGC_DS22228,BMG_DS080874,hypophosphatemic nephrolithiasis/osteoporosis | DOID:0080655 | OMIM ID:PS612286 +BMGC_DS22229,BMG_DS080875,DOID:0112375 | muscular dystrophy-dystroglycanopathy type B | OMIM ID:PS613155 +BMGC_DS22230,BMG_DS080876,OMIM ID:PS613280 | DOID:0080535 | hypermanganesemia with dystonia +BMGC_DS22231,BMG_DS080877,hot water epilepsy | OMIM ID:PS613339 | DOID:0081104 +BMGC_DS22232,BMG_DS080878,OMIM ID:PS614039 | DOID:0090131 | complex cortical dysplasia with other brain malformations +BMGC_DS22233,BMG_DS080879,OMIM ID:PS614080 | DOID:0080503 | multiple congenital anomalies-hypotonia-seizures syndrome +BMGC_DS22234,BMG_DS080880,DOID:0111728 | OMIM ID:PS615040 | familial episodic pain syndrome +BMGC_DS22235,BMG_DS080881,OMIM ID:PS615438 | DOID:0080716 | infantile liver failure syndrome +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,ICD10 ID:A26.7 | ICD11 ID:1B96/1G40 +BMGC_DS22241,BMG_DS080976,ICD10 ID:A41.0 | ICD11 ID:XN6BM/1G40 +BMGC_DS22242,BMG_DS080978,ICD11 ID:XN1P6/1G40 | ICD10 ID:A41.3 +BMGC_DS22243,BMG_DS081114,ICD10 ID:B23.0 | ICD11 ID:1C62.0 | HIV disease clinical stage 1 without mention of tuberculosis or malaria +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,ICD10 ID:B95.3 | ICD11 ID:XN3PW | Streptococcus pneumoniae +BMGC_DS22247,BMG_DS081342,ICD10 ID:C22.0 | Hepatocellular carcinoma of liver | ICD11 ID:2C12.02 +BMGC_DS22248,BMG_DS081907,ICD11 ID:02 | ICD10 ID:D37.0 +BMGC_DS22249,BMG_DS081908,ICD10 ID:D37.1 | ICD11 ID:02 +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,ICD10 ID:D37.4 | ICD11 ID:02 +BMGC_DS22253,BMG_DS081912,ICD10 ID:D37.5 | ICD11 ID:02 +BMGC_DS22254,BMG_DS081913,ICD11 ID:02 | ICD10 ID:D37.6 +BMGC_DS22255,BMG_DS081914,ICD10 ID:D37.7 | ICD11 ID:02 +BMGC_DS22256,BMG_DS081916,ICD10 ID:D38.0 | ICD11 ID:02 +BMGC_DS22257,BMG_DS081917,ICD10 ID:D38.1 | ICD11 ID:02 +BMGC_DS22258,BMG_DS081918,ICD10 ID:D38.2 | ICD11 ID:02 +BMGC_DS22259,BMG_DS081919,ICD10 ID:D38.3 | ICD11 ID:02 +BMGC_DS22260,BMG_DS081920,ICD10 ID:D38.4 | ICD11 ID:02 +BMGC_DS22261,BMG_DS081921,ICD10 ID:D38.5 | ICD11 ID:02 +BMGC_DS22262,BMG_DS081922,ICD11 ID:02 | ICD10 ID:D38.6 +BMGC_DS22263,BMG_DS081923,ICD10 ID:D39.0 | ICD11 ID:02 +BMGC_DS22264,BMG_DS081924,ICD10 ID:D39.1 | ICD11 ID:02 +BMGC_DS22265,BMG_DS081925,ICD10 ID:D39.2 | ICD11 ID:02 +BMGC_DS22266,BMG_DS081926,ICD10 ID:D39.7 | ICD11 ID:02 +BMGC_DS22267,BMG_DS081927,ICD10 ID:D39.9 | ICD11 ID:02 +BMGC_DS22268,BMG_DS081928,ICD11 ID:02 | ICD10 ID:D40.0 +BMGC_DS22269,BMG_DS081929,ICD10 ID:D40.1 | ICD11 ID:02 +BMGC_DS22270,BMG_DS081930,ICD10 ID:D40.7 | ICD11 ID:02 +BMGC_DS22271,BMG_DS081931,ICD10 ID:D40.9 | ICD11 ID:02 +BMGC_DS22272,BMG_DS081932,ICD11 ID:02 | ICD10 ID:D41.0 +BMGC_DS22273,BMG_DS081933,ICD10 ID:D41.1 | ICD11 ID:02 +BMGC_DS22274,BMG_DS081934,ICD10 ID:D41.2 | ICD11 ID:02 +BMGC_DS22275,BMG_DS081935,ICD10 ID:D41.3 | ICD11 ID:02 +BMGC_DS22276,BMG_DS081936,ICD11 ID:02 | ICD10 ID:D41.4 +BMGC_DS22277,BMG_DS081937,ICD10 ID:D41.7 | ICD11 ID:02 +BMGC_DS22278,BMG_DS081938,ICD10 ID:D41.9 | ICD11 ID:02 +BMGC_DS22279,BMG_DS081949,ICD10 ID:D44.0 | ICD11 ID:02 +BMGC_DS22280,BMG_DS081950,ICD11 ID:02 | ICD10 ID:D44.1 +BMGC_DS22281,BMG_DS081951,ICD10 ID:D44.2 | ICD11 ID:02 +BMGC_DS22282,BMG_DS081952,ICD11 ID:02 | ICD10 ID:D44.3 +BMGC_DS22283,BMG_DS081953,ICD10 ID:D44.4 | ICD11 ID:02 +BMGC_DS22284,BMG_DS081954,ICD10 ID:D44.5 | ICD11 ID:02 +BMGC_DS22285,BMG_DS081955,ICD10 ID:D44.6 | ICD11 ID:02 +BMGC_DS22286,BMG_DS081956,ICD10 ID:D44.7 | ICD11 ID:02 +BMGC_DS22287,BMG_DS081957,ICD10 ID:D44.8 | ICD11 ID:02 +BMGC_DS22288,BMG_DS081958,ICD11 ID:02 | ICD10 ID:D44.9 +BMGC_DS22289,BMG_DS081972,"DOID:0060888 | transient myeloproliferative syndrome | ICD11 ID:2B3Z | Neoplasms of haematopoietic or lymphoid tissues, unspecified | ICD10 ID:D47.7" +BMGC_DS22290,BMG_DS081973,"lymphoproliferative syndrome 2 | ICD11 ID:2B3Z | Neoplasms of haematopoietic or lymphoid tissues, unspecified | autoimmune lymphoproliferative syndrome type 2B | ICD10 ID:D47.9 | lymphoproliferative syndrome 1 | DOID:0060708;DOID:0110116;DOID:0060707" +BMGC_DS22291,BMG_DS081974,ICD10 ID:D48.0 | ICD11 ID:02 +BMGC_DS22292,BMG_DS081975,ICD10 ID:D48.1 | ICD11 ID:02 +BMGC_DS22293,BMG_DS081976,ICD10 ID:D48.2 | ICD11 ID:02 +BMGC_DS22294,BMG_DS081977,ICD10 ID:D48.3 | ICD11 ID:02 +BMGC_DS22295,BMG_DS081978,ICD10 ID:D48.4 | ICD11 ID:02 +BMGC_DS22296,BMG_DS081979,ICD10 ID:D48.5 | ICD11 ID:02 +BMGC_DS22297,BMG_DS081980,ICD10 ID:D48.6 | ICD11 ID:02 +BMGC_DS22298,BMG_DS081981,ICD10 ID:D48.7 | ICD11 ID:02 +BMGC_DS22299,BMG_DS081982,ICD11 ID:02 | ICD10 ID:D48.9 +BMGC_DS22300,BMG_DS082038,ICD10 ID:D82.0 | Other specified inherited qualitative platelet defects | ICD11 ID:3B62.0Y +BMGC_DS22301,BMG_DS082039,ICD11 ID:4A01.34 | Hyperimmunoglobulin E syndromes | ICD10 ID:D82.4 +BMGC_DS22302,BMG_DS082082,maturity-onset diabetes of the young | Type 2 diabetes mellitus | DOID:0050524 | ICD10 ID:E11.8 | ICD11 ID:5A11 +BMGC_DS22303,BMG_DS082121,ectopic Cushing syndrome | ICD10 ID:E24.3 | Ectopic ACTH syndrome | ICD11 ID:5A70.1 | DOID:0060890 +BMGC_DS22304,BMG_DS082136,aromatase excess syndrome | ICD11 ID:5A92 | Peripheral precocious puberty | ICD10 ID:E30.1 | DOID:0090122 +BMGC_DS22305,BMG_DS082179,"ICD11 ID:5B81.Z | ICD10 ID:E66.9 | Obesity, unspecified" +BMGC_DS22306,BMG_DS082187,"ICD10 ID:E71.3 | DOID:0090031;DOID:0090129 | Inborn errors of fatty acid oxidation or ketone body metabolism, unspecified | D-bifunctional protein deficiency | ICD11 ID:5C52.0Z | carnitine palmitoyltransferase I deficiency" +BMGC_DS22307,BMG_DS082189,hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | ICD11 ID:5C50.B | hypermethioninemia due to adenosine kinase deficiency | DOID:0111038;DOID:0111039;DOID:0111037 | glycine N-methyltransferase deficiency | Disorders of methionine cycle or sulphur amino acid metabolism | ICD10 ID:E72.1 +BMGC_DS22308,BMG_DS082197,glycogen storage disease IXd | ICD10 ID:E74.0 | ICD11 ID:5C51.3 | DOID:0111040;DOID:0111042 | Glycogen storage disease | glycogen storage disease IXa +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 13 | neuronal ceroid lipofuscinosis 3 | neuronal ceroid lipofuscinosis 9 | neuronal ceroid lipofuscinosis 5 | ICD10 ID:E75.4 | neuronal ceroid lipofuscinosis 10 | neuronal ceroid lipofuscinosis 6A | ICD11 ID:5C56.1 | neuronal ceroid lipofuscinosis 6B | neuronal ceroid lipofuscinosis 11 | neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 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 | neuronal ceroid lipofuscinosis 8 | neuronal ceroid lipofuscinosis 7 | Neuronal ceroid lipofuscinosis | neuronal ceroid lipofuscinosis 2 | neuronal ceroid lipofuscinosis 1 | neuronal ceroid lipofuscinosis 4 +BMGC_DS22311,BMG_DS082206,Mucopolysaccharidosis type 1 | Scheie syndrome | DOID:0060222 | ICD11 ID:5C56.30 | ICD10 ID:E76.0 +BMGC_DS22312,BMG_DS082211,ICD11 ID:5C80.00 | DOID:0090105 | autosomal recessive hypercholesterolemia | ICD10 ID:E78.0 | Primary hypercholesterolaemia +BMGC_DS22313,BMG_DS082223,"Disorders of iron metabolism, unspecified | African iron overload | hemochromatosis type 5 | ICD11 ID:5C64.1Z | ICD10 ID:E83.1 | DOID:0111029;DOID:0111033;DOID:0111031 | hemochromatosis type 1" +BMGC_DS22314,BMG_DS082225,"renal hypomagnesemia 2 | renal hypomagnesemia 4 | ICD10 ID:E83.4 | intestinal hypomagnesemia 1 | Disorders of magnesium metabolism, unspecified | primary hypomagnesemia | DOID:0060885;DOID:0060879;DOID:0060884;DOID:0060883;DOID:0060880;DOID:0060882 | ICD11 ID:5C64.4Z | renal hypomagnesemia 3 | renal hypomagnesemia 6" +BMGC_DS22315,BMG_DS082226,familial hypocalciuric hypercalcemia 2 | Disorders of calcium metabolism | ICD10 ID:E83.5 | familial hypocalciuric hypercalcemia 3 | familial hypocalciuric hypercalcemia | DOID:0060699;DOID:0060701;DOID:0060700;DOID:0060702 | familial hypocalciuric hypercalcemia 1 | ICD11 ID:5C64.5 +BMGC_DS22316,BMG_DS082230,TNF receptor–associated periodic syndrome | CINCA Syndrome | DOID:0090029;DOID:0090018 | ICD11 ID:5D00.21 | Nonneuropathic heredofamilial amyloidosis | ICD10 ID:E85.0 +BMGC_DS22317,BMG_DS082251,Dementia due to cerebrovascular disease | CADASIL 2 | ICD10 ID:F01.1 | DOID:0111035;DOID:0111036 | ICD11 ID:6D81 | CADASIL 1 +BMGC_DS22318,BMG_DS082273,ICD11 ID:6D71 | Mild neurocognitive disorder | ICD10 ID:F06.7 +BMGC_DS22319,BMG_DS082454,ICD10 ID:F43.1 | ICD11 ID:6B40 | Post traumatic stress disorder +BMGC_DS22320,BMG_DS082479,"Anorexia Nervosa, unspecified | ICD10 ID:F50.0 | ICD11 ID:6B80.Z" +BMGC_DS22321,BMG_DS082556,"ICD11 ID:6A00.1 | ICD10 ID:F71.1 | X-linked intellectual disability-psychosis-macroorchidism syndrome | DOID:0060827 | Disorder of intellectual development, moderate" +BMGC_DS22322,BMG_DS082559,DOID:0060823 | syndromic X-linked intellectual disability 94 | ICD10 ID:F72 +BMGC_DS22323,BMG_DS082590,Rett syndrome | ICD11 ID:LD90.4 | ICD10 ID:F84.2 +BMGC_DS22324,BMG_DS082646,DOID:0090104;DOID:0090103 | Huntington's disease-like 2 | Huntington's disease-like 1 | ICD10 ID:G10 +BMGC_DS22325,BMG_DS082648,"hypomyelinating leukodystrophy 7 | Ataxic disorders, unspecified | ICD11 ID:8A03.Z | ICD10 ID:G11.1 | hypomyelinating leukodystrophy 8 | DOID:0060792;DOID:0060797;DOID:0060794 | hypomyelinating leukodystrophy 11" +BMGC_DS22326,BMG_DS082650,"hereditary spastic paraplegia 32 | Troyer syndrome | hereditary spastic paraplegia 56 | hereditary spastic paraplegia 17 | hereditary spastic paraplegia 7 | hereditary spastic paraplegia 53 | 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 | hereditary spastic paraplegia 11 | hereditary spastic paraplegia 12 | hereditary spastic paraplegia 30 | hereditary spastic paraplegia 10 | hereditary spastic paraplegia 49 | hereditary spastic paraplegia 39 | hereditary spastic paraplegia 44 | hereditary spastic paraplegia 62 | hereditary spastic paraplegia 36 | hereditary spastic paraplegia 4 | hereditary spastic paraplegia 9B | ICD11 ID:8B44.0Z | 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 | ICD10 ID:G11.4 | hereditary spastic paraplegia 73 | hereditary spastic paraplegia 72A | hereditary spastic paraplegia 6 | hereditary spastic paraplegia 5A | hereditary spastic paraplegia 3A | hereditary spastic paraplegia 45 | hereditary spastic paraplegia 42 | Hereditary spastic paraplegia, unspecified | 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 34 | hereditary spastic paraplegia 35 | hereditary spastic paraplegia 24 | hereditary spastic paraplegia 13 | hereditary spastic paraplegia 19 | hereditary spastic paraplegia 61 | hereditary spastic paraplegia 23" +BMGC_DS22327,BMG_DS082652,"DOID:0060193;DOID:0060194;DOID:0111064;DOID:0060196 | Motor neuron disease, unspecified | amyotrophic lateral sclerosis type 2 | amyotrophic lateral sclerosis type 1 | amyotrophic lateral sclerosis type 4 | ICD11 ID:8B60.Z | autosomal recessive distal hereditary motor neuronopathy 1 | 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 | ICD10 ID:G23.0 | neurodegeneration with brain iron accumulation 2b | DOID:0110740;DOID:0110735;DOID:0110739;DOID:0110738;DOID:0110736 | neurodegeneration with brain iron accumulation 4 | neurodegeneration with brain iron accumulation 5 +BMGC_DS22329,BMG_DS082683,"ICD10 ID:G37.8 | DOID:0060793 | Multiple sclerosis or other white matter disorders, unspecified | ICD11 ID:8A4Z | hypomyelinating leukodystrophy 5" +BMGC_DS22330,BMG_DS082707,"ICD11 ID:8B10.Z | Transient ischaemic attack, unspecified | ICD10 ID:G45.9" +BMGC_DS22331,BMG_DS082765,ICD10 ID:G63.3 | ICD11 ID:8C03.Y/5D2Z +BMGC_DS22332,BMG_DS082768,ICD11 ID:8C03.Y/FC0Z | ICD10 ID:G63.6 +BMGC_DS22333,BMG_DS082773,"autosomal recessive limb-girdle muscular dystrophy type 2P | ICD10 ID:G71.0 | 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 | ICD11 ID:8C70.Z | autosomal recessive limb-girdle muscular dystrophy type 2I | 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 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 | 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 | myofibrillar myopathy 1 | Muscular dystrophy, unspecified | 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 2Q" +BMGC_DS22334,BMG_DS082774,"DOID:0090005 | ICD10 ID:G71.1 | Schwartz-Jampel syndrome 1 | Myotonic disorders, unspecified | ICD11 ID:8C71.Z" +BMGC_DS22335,BMG_DS082775,"DOID:0110635;DOID:0110640;DOID:0110639;DOID:0110637;DOID:0110634;DOID:0110632;DOID:0112374 | 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 | ICD10 ID:G71.2 | ICD11 ID:8C72.Z | Congenital myopathies, unspecified | muscular dystrophy-dystroglycanopathy type B6" +BMGC_DS22336,BMG_DS082879,posterior polymorphous corneal dystrophy 2 | DOID:0110855;DOID:0110857;DOID:0110856 | posterior polymorphous corneal dystrophy 1 | posterior polymorphous corneal dystrophy 3 | ICD10 ID:H18.50 +BMGC_DS22337,BMG_DS083025,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 | ICD10 ID:H90.3 | 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 | Acquired sensorineural hearing loss | 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 | ICD11 ID:AB51.1 | 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 | 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 | 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 +BMGC_DS22338,BMG_DS083051,ICD10 ID:I12.0 | ICD11 ID:BA02/GB6Z +BMGC_DS22339,BMG_DS083109,"dilated cardiomyopathy 2B | dilated cardiomyopathy 1FF | ICD11 ID:BC43.0Z | 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 | 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 | dilated cardiomyopathy 1R | dilated cardiomyopathy 1W | dilated cardiomyopathy 1II | dilated cardiomyopathy 1HH | dilated cardiomyopathy 1GG | dilated cardiomyopathy 1B | dilated cardiomyopathy 1P | dilated cardiomyopathy 1KK | ICD10 ID:I42.0 | 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 | Dilated cardiomyopathy, unspecified" +BMGC_DS22340,BMG_DS083114,ICD10 ID:I42.8 | catecholaminergic polymorphic ventricular tachycardia 1 | ICD10 ID:I47.2 | DOID:0060675 +BMGC_DS22341,BMG_DS083128,"long QT syndrome 14 | ICD11 ID:BC63.Z | DOID:0110644;DOID:0110655;DOID:0110654;DOID:0110656 | long QT syndrome 15 | long QT syndrome 1 | long QT syndrome 13 | Conduction disorders, unspecified | ICD10 ID:I45.8" +BMGC_DS22342,BMG_DS083134,"catecholaminergic polymorphic ventricular tachycardia 2 | ICD11 ID:BC71.0Z | catecholaminergic polymorphic ventricular tachycardia 5 | ICD10 ID:I47.2 | catecholaminergic polymorphic ventricular tachycardia | DOID:0060677;DOID:0060678;DOID:0060676;DOID:0060674;DOID:0060679 | catecholaminergic polymorphic ventricular tachycardia 3 | catecholaminergic polymorphic ventricular tachycardia 4 | Ventricular tachycardia, unspecified" +BMGC_DS22343,BMG_DS083234,ICD10 ID:I82.0 | BuddChiari syndrome | ICD11 ID:DB98.5 +BMGC_DS22344,BMG_DS083257,ICD11 ID:DA26.00/DB96.0 | ICD10 ID:I98.3 +BMGC_DS22345,BMG_DS083312,ICD11 ID:CA23.0 | ICD10 ID:J45.0 | Allergic asthma +BMGC_DS22346,BMG_DS083314,Asthma | ICD11 ID:CA23 | ICD10 ID:J45.8 +BMGC_DS22347,BMG_DS083341,ICD10 ID:J99.0 | ICD11 ID:CB05.1/FA20.Z +BMGC_DS22348,BMG_DS083347,"amelogenesis imperfecta type 1G | amelogenesis imperfecta type 1F | amelogenesis imperfecta type 1A | ICD11 ID:LA30.Z | amelogenesis imperfecta hypomaturation type 2A5 | amelogenesis imperfecta type 3A | X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 | amelogenesis imperfecta type 4 | ICD10 ID:K00.5 | amelogenesis imperfecta type 1H | amelogenesis imperfecta hypomaturation type 2A4 | 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 | amelogenesis imperfecta type 1B | Structural developmental anomalies of teeth and periodontal tissues, unspecified | amelogenesis imperfecta type 1C | amelogenesis imperfecta type 1E | amelogenesis imperfecta type 2A1 | amelogenesis imperfecta hypomaturation type 2A3 | amelogenesis imperfecta hypomaturation type 2A2" +BMGC_DS22349,BMG_DS083410,"Columnar metaplastic epithelium of the oesophagus, unspecified | ICD11 ID:DA23.Z | ICD10 ID:K22.7" +BMGC_DS22350,BMG_DS083412,ICD10 ID:K23.0 | ICD11 ID:1B12.7/DA24.0Y +BMGC_DS22351,BMG_DS083414,ICD11 ID:XA0828/DA21.Y | ICD10 ID:K23.1 +BMGC_DS22352,BMG_DS083456,ICD10 ID:K40.0 | ICD11 ID:XK9J/ME24.2 +BMGC_DS22353,BMG_DS083458,ICD11 ID:XK9J/ME24.8 | ICD10 ID:K40.1 +BMGC_DS22354,BMG_DS083461,ICD10 ID:K40.3 | ICD11 ID:DD51/ME24.2 +BMGC_DS22355,BMG_DS083462,ICD10 ID:K40.4 | ICD11 ID:DD51/ME24.8 +BMGC_DS22356,BMG_DS083465,ICD10 ID:K41.0 | ICD11 ID:XK9J/ME24.2 +BMGC_DS22357,BMG_DS083468,ICD10 ID:K41.1 | ICD11 ID:XT44/ME24.8 +BMGC_DS22358,BMG_DS083471,ICD10 ID:K41.3 | ICD11 ID:DD52/ME24.2 +BMGC_DS22359,BMG_DS083472,ICD11 ID:DD52/ME24.8 | ICD10 ID:K41.4 +BMGC_DS22360,BMG_DS083474,ICD10 ID:K42.0 | ICD11 ID:DD53/ME24.2 +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,"ICD11 ID:DE2Z | ICD10 ID:K59.0 | Diseases of the digestive system, unspecified" +BMGC_DS22365,BMG_DS083593,ICD11 ID:1F53.3/DB32.2Z | ICD10 ID:K93.1 +BMGC_DS22366,BMG_DS083619,DOID:0040056;DOID:0040046 | ICD11 ID:EK00.6 | Allergic contact dermatitis due to metals or metal salts | ICD10 ID:L23.0 | chromium allergic contact dermatitis | nickel allergic contact dermatitis +BMGC_DS22367,BMG_DS083657,ICD11 ID:EA90.42 | ICD10 ID:L40.3 | Palmoplantar pustulosis +BMGC_DS22368,BMG_DS083658,ICD11 ID:EA90.1 | Guttate psoriasis | ICD10 ID:L40.4 +BMGC_DS22369,BMG_DS083669,familial cold autoinflammatory syndrome 3 | familial cold autoinflammatory syndrome 1 | DOID:0090061;DOID:0090065;DOID:0090062;DOID:0090064 | familial cold autoinflammatory syndrome 4 | ICD10 ID:L50.2 | familial cold autoinflammatory syndrome +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,ICD10 ID:M07.5 | ICD11 ID:FA11.Y/DD71.Z +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,ICD10 ID:M14.4 | ICD11 ID:5D00.0/FA38.Z +BMGC_DS22377,BMG_DS083857,"DOID:0060231 | ICD11 ID:FA31.Z | ICD10 ID:M21.8 | Acquired deformities of limbs, unspecified | Bruck syndrome" +BMGC_DS22378,BMG_DS083897,ICD10 ID:M32.11 | Libman-Sacks endocarditis | DOID:0080740 +BMGC_DS22379,BMG_DS083903,ICD10 ID:M35.0 | ICD11 ID:4A43.Z | Undifferentiated nonorgan specific systemic autoimmune disease +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,ICD10 ID:N03.3 | ICD11 ID:XT8W/MF8Y +BMGC_DS22383,BMG_DS084124,ICD11 ID:XT8W/MF8Y | ICD10 ID:N03.4 +BMGC_DS22384,BMG_DS084185,"ICD10 ID:N31.0 | ICD11 ID:GC01.4 | Neuromuscular dysfunction of bladder, not elsewhere classified" +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 | ICD10 ID:O26.4 | DOID:0040098 | pemphigus gestationis +BMGC_DS22389,BMG_DS085000,"short-rib thoracic dysplasia 14 with polydactyly | pontocerebellar hypoplasia type 7 | ICD10 ID:Q04.3 | 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 | DOID:0110096;DOID:0060807;DOID:0060277;DOID:0060270;DOID:0060278;DOID:0090137;DOID:0060276;DOID:0050777 | ICD11 ID:LA05.Z | pontocerebellar hypoplasia type 8 | Cerebral structural developmental anomalies, unspecified" +BMGC_DS22390,BMG_DS085036,cataract 9 multiple types | cataract 42 | cataract 39 multiple types | cataract 29 | cataract 43 | cataract 45 | Congenital cataract | 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 | 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 | cataract 41 | ICD11 ID:LA12.1 | cataract 12 multiple types | cataract 31 multiple types | cataract 32 multiple types | ICD10 ID:Q12.0 | 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 +BMGC_DS22391,BMG_DS085047,"DOID:0060287 | ICD10 ID:Q13.4 | ICD11 ID:LA11.Z | Structural developmental anomalies of the anterior segment of eye, unspecified | cornea plana" +BMGC_DS22392,BMG_DS085049,"Axenfeld-Rieger syndrome type 1 | Axenfeld-Rieger syndrome type 2 | Axenfeld-Rieger syndrome type 3 | ICD10 ID:Q13.8 | ICD11 ID:LA11.Z | Structural developmental anomalies of the anterior segment of eye, unspecified | DOID:0060648;DOID:0110122;DOID:0110121;DOID:0110120 | anterior segment dysgenesis" +BMGC_DS22393,BMG_DS085052,ICD10 ID:Q14.1 | ICD11 ID:LA13.3 | DOID:0060763 | Congenital vitreoretinal dysplasia | X-linked juvenile retinoschisis 1 +BMGC_DS22394,BMG_DS085087,DOID:0060772;DOID:0060770 | multiple types of congenital heart defects 6 | dextro-looped transposition of the great arteries | Transposition of the great arteries | ICD11 ID:LA85.1 | ICD10 ID:Q20.3 +BMGC_DS22395,BMG_DS085090,right atrial isomerism | ICD10 ID:Q20.6 | Other specified structural developmental anomaly of heart or great vessels | ICD11 ID:LA8Y | DOID:0060856 +BMGC_DS22396,BMG_DS085094,"atrial heart septal defect 8 | atrial heart septal defect 9 | atrial heart septal defect 1 | atrial heart septal defect 6 | atrial heart septal defect 3 | ICD10 ID:Q21.1 | DOID:0110113;DOID:0110114;DOID:0110109;DOID:0110112;DOID:0110110;DOID:0110108;DOID:0110111;DOID:0110107;DOID:0110106 | ICD11 ID:LA8E.Z | Congenital anomaly of atrial septum, unspecified | atrial heart septal defect 2 | atrial heart septal defect 7 | atrial heart septal defect 4 | atrial heart septal defect 5" +BMGC_DS22397,BMG_DS085178,"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 | 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 | 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 | ICD10 ID:Q34.8 | 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 | Structural developmental anomalies of the respiratory system, unspecified | ICD11 ID:LA7Z | primary ciliary dyskinesia 26" +BMGC_DS22398,BMG_DS085181,DOID:0110213 | ICD10 ID:Q35.3 | ICD10 ID:Q35.1 | ICD10 ID:Q35.5 | ICD10 ID:Q35.7 | isolated cleft palate | ICD10 ID:Q35.9 +BMGC_DS22399,BMG_DS085233,ICD10 ID:Q43.1 | ICD11 ID:LB16.1 | Hirschsprung disease +BMGC_DS22400,BMG_DS085243,ICD10 ID:Q44.2 | Biliary atresia | ICD11 ID:LB20.21 +BMGC_DS22401,BMG_DS085264,hand-foot-genital syndrome | DOID:0060739 | Bicornuate uterus | ICD11 ID:LB44.3 | ICD10 ID:Q51.2 +BMGC_DS22402,BMG_DS085308,renal coloboma syndrome | ICD11 ID:LB30.0Y | Other specified renal agenesis or other reduction defects of kidney | DOID:0111142;DOID:0090006 | ICD10 ID:Q60.4 | oligomeganephronia +BMGC_DS22403,BMG_DS085372,"ICD11 ID:LD0Z | Structural developmental anomalies primarily affecting one body system, unspecified | DOID:0060558 | ICD10 ID:Q68.8 | lethal congenital contracture syndrome" +BMGC_DS22404,BMG_DS085389,ICD10 ID:Q71.6 | ICD11 ID:LB99.8 | Split hand | DOID:0090021 | split hand-foot malformation 1 +BMGC_DS22405,BMG_DS085419,brachyolmia-amelogenesis imperfecta syndrome | ICD11 ID:LB73.25 | ICD10 ID:Q76.3 | DOID:0090143 | Congenital scoliosis due to congenital bony malformation +BMGC_DS22406,BMG_DS085420,"spondylocarpotarsal synostosis syndrome | ICD11 ID:LB73.2Z | ICD10 ID:Q76.4 | Structural developmental anomalies of spine, unspecified | DOID:0090116" +BMGC_DS22407,BMG_DS085428,ICD10 ID:Q87.5 | short-rib thoracic dysplasia 10 with or without polydactyly | ICD10 ID:Q77.2 | DOID:0110091 +BMGC_DS22408,BMG_DS085429,DOID:0110851;DOID:0060293 | autosomal dominant chondrodysplasia punctata | ICD11 ID:LD24.04 | ICD10 ID:Q77.3 | rhizomelic chondrodysplasia punctata type 1 | Chondrodysplasia punctata +BMGC_DS22409,BMG_DS085432,Spondyloepiphyseal or spondyloepimetaphyseal dysplasias | ICD11 ID:LD24.3 | DOID:0090032;DOID:0090004 | progressive pseudorheumatoid arthropathy of childhood | ICD10 ID:Q77.7 | Silverman-Handmaker type dyssegmental dysplasia +BMGC_DS22410,BMG_DS085435,"osteogenesis imperfecta type 8 | osteogenesis imperfecta type 3 | osteogenesis imperfecta type 16 | osteogenesis imperfecta type 2 | osteogenesis imperfecta type 13 | osteogenesis imperfecta type 11 | osteogenesis imperfecta type 10 | osteogenesis imperfecta type 4 | ICD11 ID:LD24.K0 | osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures | Osteogenesis imperfecta | ICD10 ID:Q78.0 | osteogenesis imperfecta type 6 | osteogenesis imperfecta type 5 | 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 | osteogenesis imperfecta type 9 | osteogenesis imperfecta type 17 | osteogenesis imperfecta type 14 | osteogenesis imperfecta type 12 | osteogenesis imperfecta type 15" +BMGC_DS22411,BMG_DS085451,autosomal recessive congenital ichthyosis 1 | ICD10 ID:Q80.2 | autosomal recessive congenital ichthyosis 5 | Autosomal recessive congenital ichthyosis | autosomal recessive congenital ichthyosis 2 | autosomal recessive congenital ichthyosis 7 | autosomal recessive congenital ichthyosis 4A | autosomal recessive congenital ichthyosis 6 | DOID:0060710;DOID:0060716;DOID:0060717;DOID:0060719;DOID:0060715;DOID:0060656;DOID:0060711;DOID:0060714;DOID:0060718;DOID:0060712 | autosomal recessive congenital ichthyosis 3 | ICD11 ID:EC20.02 | autosomal recessive congenital ichthyosis 8 | autosomal recessive congenital ichthyosis 10 | autosomal recessive congenital ichthyosis 9 +BMGC_DS22412,BMG_DS085453,Autosomal recessive congenital ichthyosis | autosomal recessive congenital ichthyosis 4B | ICD10 ID:Q80.4 | ICD11 ID:EC20.02 | DOID:0060713 +BMGC_DS22413,BMG_DS085455,epidermolysis bullosa simplex Dowling-Meara type | epidermolysis bullosa simplex with muscular dystrophy | DOID:0060735;DOID:0060736;DOID:0090017 | epidermolysis bullosa simplex Ogna type | Epidermolysis bullosa simplex | ICD11 ID:EC30 | ICD10 ID:Q81.0 +BMGC_DS22414,BMG_DS085456,DOID:0060737 | Junctional epidermolysis bullosa | junctional epidermolysis bullosa Herlitz type | ICD10 ID:Q81.1 | ICD11 ID:EC31 +BMGC_DS22415,BMG_DS085457,ICD10 ID:Q81.2 | Dystrophic epidermolysis bullosa | recessive dystrophic epidermolysis bullosa | DOID:0060642 | ICD11 ID:EC32 +BMGC_DS22416,BMG_DS085458,DOID:0060738;DOID:0060733 | junctional epidermolysis bullosa non-Herlitz type | Epidermolysis bullosa | junctional epidermolysis bullosa with pyloric atresia | ICD10 ID:Q81.8 | ICD11 ID:EC3Z +BMGC_DS22417,BMG_DS085460,Xeroderma pigmentosum | xeroderma pigmentosum group E | ICD11 ID:LD27.1 | xeroderma pigmentosum group D | xeroderma pigmentosum group G | DOID:0110844;DOID:0110850;DOID:0110845;DOID:0110849;DOID:0110848;DOID:0110846;DOID:0110843 | xeroderma pigmentosum group A | xeroderma pigmentosum group F | xeroderma pigmentosum group C | ICD10 ID:Q82.1 | xeroderma pigmentosum group B +BMGC_DS22418,BMG_DS085483,"Noonan syndrome 10 | Noonan syndrome 1 | Noonan syndrome 9 | Multiple developmental anomalies or syndromes, unspecified | Noonan syndrome 8 | Noonan syndrome 7 | Seckel syndrome | ICD10 ID:Q87.1 | DOID:0060578;DOID:0050569;DOID:0060588;DOID:0060587;DOID:0060585;DOID:0060586 | ICD11 ID:LD2Z" +BMGC_DS22419,BMG_DS085485,"Armfield syndrome | syndromic X-linked intellectual disability Nascimento type | Multiple developmental anomalies or syndromes, unspecified | ICD11 ID:LD2Z | syndromic X-linked intellectual disability Shrimpton type | endocrine-cerebro-osteodysplasia syndrome | deafness-intellectual disability, Martin-Probst type syndrome | Duane-radial ray syndrome | syndromic X-linked intellectual disability Turner type | ICD10 ID:Q87.8 | syndromic X-linked intellectual disability Snyder type | syndromic X-linked intellectual disability 12 | syndromic X-linked intellectual disability Shashi type | syndromic X-linked intellectual disability Cabezas type | syndromic X-linked intellectual disability Claes-Jensen type | syndromic X-linked intellectual disability Raymond type | Stromme 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 | 3MC syndrome | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome" +BMGC_DS22420,BMG_DS085486,DOID:0110141;DOID:0110137;DOID:0110138;DOID:0110140;DOID:0110139;DOID:0110127 | Bardet-Biedl syndrome 16 | Bardet-Biedl syndrome 18 | ICD10 ID:Q87.89 | Bardet-Biedl syndrome 19 | Bardet-Biedl syndrome 17 | Bardet-Biedl syndrome 5 | Bardet-Biedl syndrome 15 +BMGC_DS22421,BMG_DS085515,"ICD10 ID:Q93.5 | chromosome 13q14 deletion syndrome | chromosome 17q23.1-q23.2 deletion syndrome | chromosome 17q12 deletion syndrome | chromosome 8q21.11 deletion syndrome | 3p deletion syndrome | DOID:0060411;DOID:0060391;DOID:0060400;DOID:0060425;DOID:0060417;DOID:0060412;DOID:0060405;DOID:0060404 | ICD11 ID:LD44.Z | Deletions of the autosomes, unspecified | chromosome 16p12.2-p11.2 deletion syndrome | chromosome 1q41-q42 deletion syndrome | chromosome 1q21.1 deletion syndrome" +BMGC_DS22422,BMG_DS085588,ICD10 ID:R19.6 | Halitosis | ICD11 ID:MD94 +BMGC_DS22423,BMG_DS085718,"ICD10 ID:R73.9 | Elevated blood glucose level, unspecified | ICD11 ID:MA18.0Z" +BMGC_DS22424,BMG_DS086495,"Unspecified injuries of spine or trunk, level unspecified | ICD11 ID:ND51.Z | ICD10 ID:T09.3" +BMGC_DS22425,BMG_DS086961,ICD10 ID:T78.4 | Allergic or hypersensitivity conditions of unspecified type | ICD11 ID:4A8Z +BMGC_DS22426,BMG_DS091971,ICD11 ID:5B81 | Obesity +BMGC_DS22427,BMG_DS094697,Cystic fibrosis | ICD11 ID:CA25 +BMGC_DS22428,BMG_DS095586,ICD11 ID:EA90 | Psoriasis +BMGC_DS22429,BMG_DS118713,None | ICD11 ID:XS8H