Type stringclasses 4
values | ConceptID stringlengths 1 31 | mention_counts stringlengths 7 7.84M | mention stringlengths 1 99 ⌀ |
|---|---|---|---|
Disease | MESH:C531754 | {'OT': 38, 'Salvia off': 1, 'Cooling off': 1, 'FO': 26, '-off': 288, 'HCO': 4, 'off-trail hiking': 1, 'POS': 29, 'Pinch-off syndrome': 41, 'pinch-off syndrome': 117, 'off': 180, '-off phenomenon': 11, 'SMASh': 2, 'hand offs': 1, 'pinching off syndrome': 3, 'die-off': 51, 'damping-off': 17, 'pinch off syndrome': 11, '-o... | -off |
Disease | MESH:C531755 | {'oxalic deposits': 1, 'calcium renal deposits': 2, 'oxalate deposition': 3, 'renal oxalate crystal deposition': 3, 'CaOx renal crystal deposition': 1, 'CaOx kidney crystal': 1, 'Renal CaP': 1, 'CaOx renal deposits': 1, 'renal calcium deposition': 10, 'subretinal oxalate deposits': 1, 'oxalate deposits': 4, 'Subretinal... | renal calcium deposits |
Disease | MESH:C531760 | {'naso-oro-ocular clefts': 2, 'oro-facial deformities': 6, 'oro-maxillo-facial malignancies': 1, 'Oro-facial granulomatosis': 13, 'Oro-facial dyskinesia': 5, 'oro-facial dyskinesia': 35, 'oro-facial edema': 8, 'oro-facial dyspraxia': 6, 'oro-dental infection': 5, 'Noma Neonatorum': 4, 'oro-dental problems': 17, 'oro-fa... | oro-facial clefts |
Disease | MESH:C531762 | {'Alkaptonuric arthritis': 7, 'alkaptonuric rheumatism': 4, 'alkaptonuric': 62, 'Alkaptonuric': 14, 'exogenous ochronosis': 20, 'alkaptonuric ochronosis': 68, 'Exogenous ochronosis': 9, 'Alkaptonuric ochronosis': 28, 'EO': 17, 'alkaptonuric arthropathy': 12, 'OCULAR OCHRONOSIS': 1, 'pseudo-ochronosis': 7, 'alkaptonuric... | alkaptonuric ochronosis |
Disease | MESH:C531766 | {'WGBS': 307, 'WB': 26, 'WHOLE': 121, 'WBRT': 41, 'WGD': 567, 'WHOLE-CELL CONFIGURATION': 1, 'WHOLE-BODY ENERGY HOMOEOSTASIS': 1, 'WTS': 30, 'WG': 72, 'WGMS': 3, 'ALL': 3, 'ALL HDC': 1, 'WBDs': 2, 'WBD': 6, 'WES': 79, 'WHOLE-GENOME RESPONSES': 1, 'WMS': 62, 'WHOLE BODY': 11, 'WB-': 1, 'WS': 55, 'WSD': 27, 'AWB': 6, 'WG... | WGD |
Disease | MESH:C531777 | {'islet': 831, 'Islet': 251, 'islet dysfunction': 819, 'islet cell dysfunction': 114, 'Chromaffinoma': 2, 'hIAPP': 204, 'familial PPGL': 2, 'familial pheochromocytoma/paraganglioma': 4, 'islets': 123, 'Familial pheochromocytomas': 12, 'familial pheochromocytomas': 12, 'Islet dysfunction': 47, 'Islet Dysfunction': 21, '... | islet |
Disease | MESH:C531782 | {'Tp': 14, 'TD': 9, 'treponema': 27, 'treponematosis': 137, 'MHA-TP': 3, 'Td': 46, 'TP': 75, 'TPPA': 5, 'TPE': 23, 'TPA': 21, 'T. pallidum': 10, 'TPE CDC 2575': 1, 'Treponema pallidum (': 4, 'Treponema': 104, 'Treponema pallidum': 7, 'TREPONEMA PALLIDUM': 27, 'TPHA': 101, 'TREPONEMA AGGLUTINATION': 1, 'endemic treponem... | treponematosis |
Disease | MESH:C531783 | {'gluteal mass': 85, 'gluteal': 58, 'gluteal cleft mass': 2, 'gluteal abscess': 259, 'tooth socket': 124, 'Gluteal': 9, 'gluteal abscesses': 49, 'Granuloma gluteale adultorum': 2, 'granuloma gluteale adultorum': 6, 'granuloma gluteale infantum': 23, 'Granuloma gluteale infantum': 27, 'gluteal cleft': 48, 'gluteal fold ... | gluteal abscess |
Disease | MESH:C531784 | {'type I PRP': 12, 'PRP type VI': 1, 'PRP type I': 5, 'Type III (classic juvenile) PRP': 1, 'pityriasis rubra pilaris type V': 3, 'pityriasis rubra pilaris (PRP) type V': 4, 'pityriasis rubra pilaris type III': 2, 'PRP (type 4)': 1, 'pityriasis rubra pilaris type IV': 2, 'Familial Pityriasis Rubra Pilaris': 1, 'type II... | type I PRP |
Disease | MESH:C531791 | {'familial idiopathic priapism': 1, 'Idiopathic priapism': 19, 'Familial idiopathic priapism': 1, 'idiopathic priapism': 36, 'Idiopathic neonatal priapism': 2, 'Idiopathic Stuttering Priapism': 1, 'Idiopathic recurrent priapism': 1, 'idiopathic recurrent priapism': 1, 'IIP disease': 1, 'IIP': 1, 'Idiopathic ischemic pr... | idiopathic priapism |
Disease | MESH:C531795 | {'IIHWOP': 33, 'IIH without papilledema': 8, 'idiopathic intracranial hypertension without papilledema': 17, 'hypertensive papilledema': 3, 'IIIWP': 1, 'papilledema IH': 1, 'intracranial hypertensive papilledema': 1, 'Idiopathic Intracranial Hypertension Without Papilledema': 2, 'PIIHWOP': 1, 'Idiopathic Intracranial H... | IIHWOP |
Disease | MESH:C531816 | {'Adenosine deaminase (ADA) deficiency': 84, 'SNSF': 15, 'adenosine deaminase deficiency': 681, 'gas bubble disease': 47, 'Hubble-bubble': 2, 'ADA': 2852, 'adenosine deficiency': 40, 'cytosine deaminase': 9, 'Ada deficiency': 2, 'TE-ADA': 6, 'ADA hyperactivity': 1, 'ADA- SCID': 6, 'ADO': 127, 'double-bubble deformity':... | ADA |
Disease | MESH:C531821 | {'bacteraemia': 12453, 'Bacteraemia': 1552, 'bacteraemias': 622, 'Stenotrophomonas maltophilia bacteraemia': 1, 'Stenotrophomonas maltophilia infection': 68, 'Stenotrophomonas maltophilia skin infection': 1, 'MRSA bacteraemia': 52, 'Bacteraemias': 30, 'XDR-Stenotrophomonas maltophilia infection': 1, 'Stenotrophomonas m... | bacteraemia |
Disease | MESH:C531833 | {'Superior orbital fissure syndrome': 36, 'superior orbital fissure syndrome': 127, 'painful ophthalmoplegia': 242, 'NSOI': 18, 'nonspecific orbital inflammation': 14, 'Painful ophthalmoplegia': 95, 'cavernous sinus and supraorbital fissure syndrome': 1, 'PO': 9, 'Painful Ophthalmoplegias': 1, 'SOF': 13, 'Alternating p... | painful ophthalmoplegia |
Disease | MESH:C531834 | {'Microsporum canis infection': 55, 'toxocara canis': 10, 'toxocara': 117, 'M. canis infected': 1, 'CATIE': 48, 'Jackal - Canis mesomelas': 1, 'canis': 71, 'Toxocara canis infection': 68, 'E canis infection': 5, 'GALEUS CANIS': 1, 'H. canis infection': 52, 'Hepatozoon canis infection': 39, 'T. canis infection': 116, 'E... | toxocara |
Disease | MESH:C531835 | {'eA': 58, 'TEFs': 106, 'Eragrostis tef': 10, 'anal atresia, cardiac, TEF': 1, 'EAs': 163, 'EA/TEF': 26, 'postoperative dysfunction of EA/TEF': 1, 'EA/TEF type C': 2, 'tracheoesophageal atresia': 29, 'tef': 43, 'Ea': 25, 'EA-TEF': 68, 'EATEF': 5, 'TEF': 6, 'OA-TOF': 3, 'eas': 2, 'Dyspn(o)ea': 1, 'eAs': 18, 'dysmenorrh?... | EAs |
Disease | MESH:C531836 | {'congenital anomaly of the tricuspid valve and': 1, 'agenesis of tricuspid valve': 1, 'ASPECTS OF CONGENITAL DEFECTS OF THE TRICUSPID VALVE': 1, 'congenitally malformed valves': 3, 'congenital or acquired abnormality of the tricuspid valve apparatus': 1, 'congenital valve malformation': 15, 'congenital valve malformat... | congenital valve malformations |
Disease | MESH:C531841 | {'Inflamed': 21, 'inflamed': 1154, 'inflamed mucosa': 7, 'inflamation': 69, 'inflamed odontogenickeratocyst': 1, 'Inflam': 16, 'heart inflamed': 1, 'IBD': 3, 'Inflamed mucosal lesions': 1, 'Inflamed tumors': 35, 'inflamed tumors': 18, 'inflamed skin dysfunction': 1, 'inflamed joints': 54, 'inflammed': 36, 'inflamed red... | inflamed |
Disease | MESH:C531844 | {'von Willebrand factor': 410, 'vWF deficiency': 63, 'deficiency or dysfunction of von Willebrand factor': 9, 'deficiency of the von Willebrand factor': 19, 'deficiency of von Willebrand factor': 78, 'vWF dysfunction': 3, 'factor von Willebrand': 5, 'von Willebrand factor type D': 20, 'von Willebrand factor deficiency'... | von Willebrand factor |
Disease | MESH:C531847 | {'deficits of the pyramidal tract': 1, 'autonomic nerve or pyramidal tract dysfunction': 1, 'Degeneration of the pyramidal tract': 4, 'Degeneration of the pyramidal tracts': 2, 'pyramidal tract involvement': 87, 'Pyramidal tract impairment': 1, 'pyramidal tracts damage': 4, 'pyramidal tract dysfunction': 165, 'pyramida... | pyramidal tract dysfunction |
Disease | MESH:C531849 | {'lipophagic granuloma': 16, 'non tropical sprue': 2, 'intestinal granulomatosis': 1, 'Non-tropical sprue': 9, 'non-tropical sprue': 25, 'BILATERAL PREMAMMARY LIPOPHAGIC GRANULOMA': 1, 'lipophagic necrosis': 1, 'Non-Tropical Chyluria': 1, 'Non tropical sprue': 1, 'lipophages': 1, 'lipophagic disorders': 1, 'Lipophagic ... | non-tropical sprue |
Disease | MESH:C531854 | {'CE': 132, 'CHS-CS': 1, 'fumarylacetoacetate hydrolase (FAH) deficiency': 19, 'lysosomal acid lipase deficiency': 269, 'DNA Damage': 51, 'DNA damage': 175, 'LAL': 226, 'cholesteryl ester storage disease': 220, 'LAL-deficiency': 8, 'LAL-ko': 1, 'CESD': 902, 'LAL infectioning': 1, 'FAAH-deficient': 1, 'PGHs': 5, 'Choles... | CESD |
Disease | MESH:C535269 | {'TRGs': 4, 'tetracycline': 834, 'TETRACYCLINE': 73, 'tet': 108, 'TETRACYCLINE IN': 2, 'TE': 112, 'TETRACYCLINE-INDUCED FLUORESCENCE TEST': 1, 'TF': 1, 'TTC': 5, 'TETRACYCLINE-RESISTANT': 6, 'TETR': 2, 'TET': 134, 'TetR': 6, 'cfos-tTA': 1, 'TETRACYCLINE ALLERGY': 1, 'TETRACYCLINE HYDROCHLORIDES': 1, 'TETRACYCLINE FLUOR... | tetracycline |
Disease | MESH:C535273 | {'KRAEPELIN': 3, 'Kraepelin symptom': 1, 'Kraepelin': 12, "Kraepelin's disease": 4, "Kraepelin's schizophasia": 1, 'CHALLENGE TO KRAEPELIN': 1, "Kraepelin's paraphrenia": 1, "Kraepelin's paraphrenic patients": 1, 'Kraepelin-Fraud syndrome': 1, 'UCHIDA-KRAEPELIN TEST': 1, 'Kraepelin-Fraud Syndrome': 1, 'Kraepelin-fraud ... | Kraepelin |
Disease | MESH:C535274 | {'THE syndrome 2': 1, 'DADA 2 syndrome': 1, 'PRS': 314, 'retardation and dysmorphism syndrome': 1, 'chto PRS': 1, 'neurodevelopmental, dysmorphic/congenital malformation syndromes': 1, 'APDSs': 1, 'PI3Kdelta syndrome 2': 3, 'APDS2': 3, 'PRS type': 1, 'Hyperhemolytic syndrome 2': 1, 'Warkany syndrome 2': 8, 'linked synd... | PRS |
Disease | MESH:C535276 | {'primary angiitis of the CNS': 78, 'Primary angiitis of the central nervous system': 180, 'PACNS': 367, 'primary angiitis of the central nervous system': 352, 'Primary Angiitis of the Central Nervous System': 43, 'small vessel primary angiitis of the central nervous system': 2, 'Small vessel PACNS': 1, 'svPACNS': 1, '... | PACNS |
Disease | MESH:C535278 | {'choroidal, 3 iris, and 3 ciliary body tumors': 1, 'primary ciliary dyskinesia type 3': 5, 'dyskinesia.3': 1, 'MIQ-3': 1, 'situ 3 IA': 1, 'PCD 3': 1, 'no movement - 3': 1, 'TD-3': 3, 'movement disorders.3': 1, 'primary ciliary dyskinesia (PCD) type 3': 1, 'Contraction of ciliary muscle 3': 1, 'muscle movement... | primary ciliary dyskinesia type 3 |
Disease | MESH:C535280 | {'cortisol-secreting carcinomas': 2, 'cortisol': 769, 'MACS': 32, 'cortisol secretion': 74, 'HCC': 247, 'cortisol deficiency': 704, 'DCS': 21, 'CTS': 2, 'CORTISOL': 43, 'Cortisol deficiency': 88, 'MACE': 21, 'cortisol excess': 53, 'CORTISOL-': 1, 'CORTISOL DOSE': 1, 'CORTISOL TIME COURSE': 1, 'ACTIVITY OF CORTISOL-META... | cortisol |
Disease | MESH:C535281 | {'Radial aplasia or hypoplasia': 2, 'radial aplasia': 142, 'asymmetrical radial aplasia': 1, 'radial aplasia/hypoplasia': 5, 'radial hypoplasia/aplasia': 3, 'Radial aplasia': 16, 'radial aplasia or hypoplasia': 9, 'Radial hypoplasia or aplasia': 1, 'anogenital anomalies': 28, 'aplasia of the radial artery': 1, 'Aplasia... | radial aplasia |
Disease | MESH:C535282 | {'rain': 388, 'osteosclerotic': 612, 'Osteosclerotic': 49, 'osteosclerotic lesions': 329, 'Osteosclerotic lesions': 36, 'RNS': 252, 'osteosclerotic and osteolytic lesions': 14, 'osteosclerotic changes': 51, 'autosomal recessive osteosclerotic bone dysplasia': 5, 'Raine syndrome': 173, 'osteolytic and osteosclerotic': 1... | osteosclerotic |
Disease | MESH:C535284 | {'humeroradial synostosis': 33, 'class II humeroradial synostosis': 1, 'Humeroradial synostosis': 11, 'humero-radial epicondylitis': 1, 'unilateral humero-radial synostosis': 1, 'Congenital humeroradial synostosis': 5, 'Humeroradial Synostosis': 2, 'HRS': 4, 'humeroradial or longitudinal synostosis': 1, 'Fracture in Hu... | humeroradial synostosis |
Disease | MESH:C535285 | {'RCUH': 1, 'Ramon syndrome': 38, "Ramon's syndrome": 6, 'Ramon Syndrome': 3, 'cherubism with gingival fibromatosis': 1, 'Ramon y Cajal': 1, 'Ramon': 1, 'MR': 2, 'RAMON': 4, 'HRC': 2, 'URL-C5': 1, 'and Ramon syndromes': 1, 'HURyC': 1, 'Ramon and Rutherford syndrome': 1, 'SANTIAGO RAMON': 1, 'HOSPITAL RAMON RUIZ ARNAU':... | Ramon syndrome |
Disease | MESH:C535286 | {'Catarina IV Ramos': 1, 'Ramos-Louzada': 1, 'RL': 1, 'ramo cerebelar': 1, 'ramo cerebelar posterior': 1, 'Ramos-Arroyo syndrome': 3, 'ramo direito': 3, 'BRD': 7, 'BRE': 3, 'BRE doloroso': 1, 'BRE doloroso sao pouco claros': 1, '-Ramos': 2, 'OR': 1, 'RAMOS': 6, 'Murillo-Ramos': 1, 'os ramos nervosos nociceptivos': 1, '... | BRD |
Disease | MESH:C535287 | {'myoclonus epilepsy myopathy sensory ataxia': 8, 'Ramsey Hunt syndrome': 27, 'Ramsey-Hunt syndrome': 35, 'HH': 96, "Hunt's dyssynergia": 1, 'Hunting': 41, 'Ramsey Hunt Syndrome': 7, 'hunting': 8, 'Big-Game Hunting': 1, 'Phage Hunting': 1, 'Hunt bumble bee': 1, 'HLP': 1, 'Hunt': 63, 'Ataxia-myoclonus syndrome': 2, 'ata... | HH |
Disease | MESH:C535288 | {'RAPADILINO': 82, 'RAPADILINO syndrome': 95, 'AR': 1, 'radial and patellar hypoplasia': 1, 'congenital patellar aplasia or hypoplasia': 2, 'patellar aplasia or hypoplasia': 18, 'patellar hypoplasia': 40, 'patellar hypoplasia or agenesis': 3, 'patellar tendon hypoplasia': 1, 'medial patellar facet hypoplasia': 1, 'pate... | RAPADILINO syndrome |
Disease | MESH:C535289 | {'Rapp-Hodgkin syndrome': 111, 'Rapp-Hodgkin Syndrome': 15, 'Rapp-Hodgkins type': 1, 'Rapp-Hodgkin syndromes': 4, 'Rapp-Hodgkin': 16, 'Rapp Hodgkin syndrome': 6, 'Rapp Hodgkin syndromes': 1, 'RHS': 44, 'Hay-Wells and Rapp-Hodgkin syndromes': 1, 'Rapp Hodgkin SyndromeFabry': 1, 'Rapp-Hodgkin ectodermal dysplasia syndrom... | Rapp-Hodgkin syndrome |
Disease | MESH:C535290 | {'SMD': 42, 'TMD': 106, 'IT': 1, 'Distance': 1325, 'ED': 157, 'DC': 23, 'MHD': 19, 'AVD': 17, 'HD': 662, 'DM': 42, 'MD': 25, 'MSD': 12, 'Distancing': 531, 'IPD': 92, 'ICD': 40, 'distancing': 199, 'distance': 470, 'PD': 52, 'MRMD': 16, 'Chord Distance': 2, 'VTC': 1, 'AD': 29, 'Carnot-Caratheodory Distances': 1, 'DTC': 6... | Distance |
Disease | MESH:C535292 | {'arthrogrypotic syndromes': 4, 'Peterson defect': 4, "Peterson's defect": 22, 'arthrogrypotic': 48, 'Arthrogrypotic': 6, 'Smith-Peterson': 1, '-Peterson': 16, 'arthrogrypotic deformities of the limbs': 1, 'LVC': 12, 'arthrogrypotic extremities': 1, 'arthrogrypotic changes in': 1, 'CAMP': 2, 'Smith-peterson osteotomy':... | arthrogrypotic |
Disease | MESH:C535293 | {"Malignant 'angioendotheliomatosis": 1, "cutaneous malignant 'angioendotheliomatosis": 1, 'Malignant angioendotheliomatosis': 26, 'Cerebral angioendotheliomatosis': 4, 'malignant angioendotheliomatosis': 61, 'MAE': 8, 'Neoplastic angioendotheliomatosis': 14, 'NAE': 9, 'neoplastic angioendotheliomatosis': 15, 'reactive... | reactive angioendotheliomatosis |
Disease | MESH:C535295 | {'neurological, mental, or hearing problems': 1, 'loss of retardation': 1, 'ataxia/hearing loss': 1, 'hearing, visual and other physical and mental impairments': 3, 'Cavanagh syndrome': 4, 'motor, hearing, sight, and mental disabilities': 1, 'hearing, speech or mental disability': 1, 'Mental or hearing impairment': 2, ... | ataxia-tremor-retardation syndrome |
Disease | MESH:C535296 | {'CSR': 236, 'Deficiency in homologous recombination': 4, 'HR': 2172, 'HR deficiency': 1035, 'homologous recombination deficiency': 1978, 'HRD': 2001, 'HR deficiencies': 105, 'CRF': 148, 'CRFs': 315, 'RIL': 635, 'ENGINEERED RECOMBINANT LIVE': 1, 'homologous recombination-deficient': 24, 'HRD tumors': 174, 'homologous r... | HR |
Disease | MESH:C535297 | {'Laryngeal papillomas': 49, 'laryngeal papilloma': 404, 'respiratory papillomatosis': 1380, 'Respiratory Papillomatosis': 144, 'Laryngotracheal Recurrent Papillomatosis': 1, 'RRP': 629, 'laryngeal papillomas': 414, 'laryngeal respiratory papillomatosis': 2, 'Respiratory papillomatosis': 43, 'recurrent respiratory papi... | respiratory papillomatosis |
Disease | MESH:C535298 | {'DSPC': 24, 'vascular leakiness': 57, 'Leaky Gut Syndrome': 25, 'PC': 2104, 'POPC': 83, 'red blood cell membrane disorder': 12, 'RBC membrane disorders': 39, 'inherited red cell membrane disorders': 7, 'red blood cell hemolysis': 8, "leaky gut' syndrome": 4, 'leaky': 16, 'Red blood cell (RBC) membrane protein deficien... | PC |
Disease | MESH:C535299 | {'Autoimmune progesterone dermatitis': 94, 'autoimmune progesterone dermatitis': 69, 'Autoimmune Progesterone Dermatitis': 18, 'progesterone dermatitis': 37, 'APD': 31, 'AUTOIMMUNE PROGESTERONE': 1, 'progesterone or estrogen dermatitis': 1, 'AIPD': 10, 'autoimmune progesterone dermatitis of pregnancy': 2, 'autoimmune p... | Autoimmune progesterone dermatitis |
Disease | MESH:C535300 | {'anger outbursts': 147, 'Anger outbursts': 8, 'temper outbursts': 409, 'outbursts': 411, 'angry outbursts': 105, 'violent outburst': 5, 'IPS': 43, 'neurological outbursts': 2, 'emotional outbursts': 161, 'Excito-maniac outburst': 1, 'outburst': 66, 'angry outburst': 5, 'COMPEL': 4, 'Compelling': 61, 'photic': 74, 'vio... | outbursts |
Disease | MESH:C535301 | {'Congenital hypomyelinating neuropathy': 22, 'CHN': 813, 'congenital hypomyelinating neuropathy': 113, 'Congenital Hypomyelination': 1, 'CH': 6, 'congenital hypomyelination': 89, 'CHN.4': 1, 'congenital hypomyelinating': 4, 'Fe': 1, '125-2-CHN': 1, '4e': 5, 'congenital neuropathy': 50, 'CHN.ASN.000451': 1, 'amyelinati... | CHN |
Disease | MESH:C535302 | {'CMTNS': 3, 'Charcot-Marie-Tooth 2 disease': 2, 'Charcot-Marie-Tooth type 2': 97, 'CMT type 2': 49, 'CMT2': 72, 'Charcot-Marie-Tooth neuropathy type 2': 19, 'Charcot-Marie-Tooth 2 L': 1, 'Charcot-Marie-Tooth Type 2': 18, 'CMTNSv2': 4, 'CMTNSv2-R': 1, 'Neuropathy 2': 6, 'X- linked recessive CMT phenotype': 1, 'X-linked... | Charcot-Marie-Tooth type 2 |
Disease | MESH:C535305 | {'HES': 155, 'CHEST': 6, 'HEDS': 6, 'THEOS': 1, 'HED': 14, 'HET': 5, 'PHEMA': 37, 'HET-P': 3, 'HEC': 49, 'HEI': 4, 'HEMA': 62, 'HEA': 14, 'HBS': 2, 'MHET': 10, '2-HEMA': 1, 'PHMA': 1, 'Hepes': 3, 'HEM': 3, 'HEAA': 3, 'HECS': 3, 'GD': 1, 'HEMA-PV': 1, 'HEIA': 3, 'HYDROXYETHYL': 1, 'PHEA': 4, 'EMT': 1, 'HI': 1, 'HE-lesio... | HES |
Disease | MESH:C535306 | {'D-2-hydroxyglutarate dehydrogenase': 1, 'l-2-hydroxyglutaric aciduria': 30, '1-2-hydroxyglutaric aciduria': 1, 'HGA': 138, '2-hydroxyglutaric aciduria': 49, 'L-2-HGA': 44, 'L-2-Hydroxyglutaric aciduria': 36, 'L-2-hydroxyglutaric aciduria': 181, '(L)-2-hydroxyglutaric aciduria': 2, 'L-2 hydroxyglutaric aciduria': 23, ... | L-2-hydroxyglutaric aciduria |
Disease | MESH:C535307 | {'2-methylacetoacetyl-coenzyme A thiolase) deficiency': 1, '2-methylacetoacetyl-CoA thiolase deficiency': 11, '2-methylacetoacetyl CoA thiolase deficiency': 3, 'MAT deficiency': 4, 'Methylacetoacetyl-coenzyme A thiolase (MAT) deficiency': 1, 'THI': 1, 'methylacetoacetyl-CoA thiolase deficiency': 1, 'beta-Ketothiolase (... | 2-methylacetoacetyl-CoA thiolase deficiency |
Disease | MESH:C535308 | {'MCCs': 571, 'RP-I': 1, 'I-SCAN-3': 2, 'CDC': 1, '3-methylcrotonyl-CoA carboxylase (MCC) deficiency': 9, 'MCC deficiency': 24, '3-methylcrotonyl-CoA carboxylase deficiency': 110, '3-methlycrotonyl-CoA carboxylase deficiency': 2, 'CCR': 2, 'I stage 3': 1, 'Deficiency of 3-methylcrotonyl-coenzyme A carboxylase': 1, 'alp... | MCCs |
Disease | MESH:C535309 | {'II 3': 6, 'TADDOL': 1, '3 II BC9': 1, '3 II BC3': 1, '3 II BC6': 1, '3 II BC4': 1, '3 II BC5': 1, 'MPB': 1, 'GII.3': 4, 'A-II-3': 4, 'LC-3-II': 1, '3-ALPHA': 2, 'ICCC-3 II': 1, 'EOPC': 1, 'EEPC': 2, 'aac(3)-II': 1, 'HEC': 1, 'Asia II 3': 4, '-alpha 3.7I-thalassaemia': 1, 'PIDs II-2 and II-3': 1, 'PID II-3':... | II-3 |
Disease | MESH:C535310 | {'HAD': 2009, 'HAD Complera': 1, 'HAD-A': 71, 'HAD-D': 99, 'LC': 4, 'HAD-DI': 3, 'ARTICLE HAD': 17, 'HAD-2': 4, 'HAD-1': 9, 'Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency': 5, 'HAD VOLUNTARILY': 1, 'HAD-depression': 3, 'DLPC': 4, 'HAD-': 31, 'ENA HAD': 1, 'HAD-like syndrome': 1, 'HAD CHANCES': 1, 'HOAD': 10, '... | HAD |
Disease | MESH:C535311 | {'Costeff syndrome': 59, 'optic atrophy-plus syndrome': 4, 'optic atrophy plus syndrome': 14, 'Atrophy4.Dominant Optic Atrophy plus': 1, 'Iraqi': 54, 'ADOA-plus': 3, 'type III 3-methylglutaconic aciduria': 5, 'Costeff Syndrome': 8, 'Type III 3-methylglutaconic aciduria': 11, 'ADOA plus': 8, 'Iraqi Freedom': 61, 'autoso... | Iraqi Freedom |
Disease | MESH:C535312 | {'3-hydroxyisobutyric aciduria': 21, '3HiB-uria': 3, '3-Hydroxyisobutyric aciduria': 7, '3-hydroxyisobutyric acid dehydrogenase deficiency': 2, '3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency': 1, 'HIBADH deficiency': 1, '3-hydroxyisobutyrate dehydrogenase (HIBADH) deficiency': 1, 'HIA': 1, 'HIB': 1, 'deficienc... | 3-hydroxyisobutyric aciduria |
Disease | MESH:C535313 | {'type 3C': 4, 'BARC 3c': 4, 'CCC': 1587, 'Ritscher-Schinzel/3C syndrome': 15, '3C syndrome': 28, 'Ritscher-Schinzel, or 3C (cranio-cerebello-cardiac) syndrome': 1, '3C': 1401, '1A, 1B, and 3C deformities': 1, '3C deformity': 1, 'Marsh-Oberhuber type 3c': 2, 'Marsh-Oberhuber type 3a, 3b, 3c, and 3b-c': 1, 'Marsh-Oberhu... | CCC |
Disease | MESH:C535314 | {'WANG Le-': 1, 'Le': 460, 'HN-M-3': 3, 'TREX1 dysfunction': 1, 'Le Fort II/III upper mid-facial fractures': 1, 'Les anciens malades du': 3, 'CHM': 4, 'Yakut': 10, 'Le handicap fonctionnel': 1, 'Les Ansereuilles': 1, 'Le Fort I osteotomy': 73, 'Le Fort I Osteotomy': 47, 'Le foie vide': 1, 'LEs': 50, 'Le Fort II or III'... | Le |
Disease | MESH:C535317 | {'47, XYY': 83, '47,XYY': 247, 'XYY anomaly': 2, 'XYY syndrome': 252, '48,XYY, +21': 1, 'XYY': 250, "Jacob's disease": 35, "Jacob's syndrome": 20, 'pyy': 1, "Jacob's Syndrome": 3, '47 XYY syndrome': 7, 'Klinefelter and 47 XYY syndromes': 1, "Creutzfeld-Jacob's": 5, '47,XYY syndrome': 82, '47 XYY': 11, 'YY-syndrome': 4,... | XYY syndrome |
Disease | MESH:C535318 | {'SESRL': 2, 'LSOA': 206, 'ESL': 2, 'SE': 335, 'SEs': 349, 'X trisomy': 22, 'X trisomy syndrome': 1, 'trisomy X': 164, 'Triplo-X': 2, 'SMIP': 2, 'super-infections': 147, 'XXX': 110, 'triple-X syndrome': 31, 'CSL': 11, 'S-T': 1, 'super infection': 35, 'hepatic SE': 1, 'SEC': 8, 'super': 68, 'SSO': 20, 'SR': 71, 'super-i... | SEs |
Disease | MESH:C535319 | {'penta': 6, 'pentasomy X/tetrasomy X syndrome': 1, 'PARMS': 7, 'pentasomy 15': 1, 'XXXXX': 7, 'PEF': 9, 'PPS': 1, 'PAT': 1, 'penta-acyltrehaloses': 1, 'C-penta': 1, 'chromosome X pentasomy': 2, 'Pentas lanceolata': 2, 'ATEG_XXXXX.1': 1, 'PENTA wastage': 1, 'Penta-Helix': 1, 'Penta-helix': 1, 'pentasomy X.5': 1, 'PG': ... | pentasomy X |
Disease | MESH:C535321 | {'PAN-A/1': 1, "CONSERVATION OF 5'-NUCLEOTIDASE": 1, "ecto-5'-nucleotidase deficiency": 2, "5'-nucleotidase deficiency": 5, "deficiency of 5'-nucleotidase": 2, "SEPARATION OF 5'-NUCLEOTIDASE FROM INTERFERING ENZYMES": 1, "Purine ecto-5'-nucleotidase deficiency": 1, "hypoxia-5'-Nucleotidase 1A": 1, 'NT': 3, "ecto-5'nucl... | 5'-nucleotidase deficiency |
Disease | MESH:C535322 | {'5-oxoprolinase deficiency': 31, '5-Oxoprolinase deficiency': 7, 'defect in 5-oxoprolinase': 1, 'Deficiency of 5-oxoprolinase': 2, 'D. 5-Oxoprolinase deficiency': 1, 'Inherited 5-oxoprolinase (OPLAH) deficiency': 1, 'deficiency of either 5-oxoprolinase': 1, '5-oxoprolinase deficiencies': 1, 'oxoprolinase deficiency': ... | 5-oxoprolinase deficiency |
Disease | MESH:C535323 | {'5q- abnormality': 5, 'del(5q) syndrome': 18, '5q- syndrome': 311, '5q- Syndrome': 11, 'del (5q': 20, 'del(5q) chromosomal abnormalities': 5, 'del(5q)': 130, '5q-syndrome': 156, 'del(5q': 175, '5q': 155, 'Del 5q': 1, 'del 5q': 10, 'MAR': 248, 'the 5q-syndrome': 1, '5Q-T': 16, 'HN': 2, '5q-': 14, 'NUCLEATING': 1, 'NRBC... | 5q- syndrome |
Disease | MESH:C535325 | {'PTS': 1602, 'PTP': 1, 'PTPS deficiency': 73, '6-pyruvoyl-tetrahydropterin synthase': 5, 'PTPS': 41, 'PTS-2': 1, '6-pyruvoyltetrahydropterin synthase deficiency': 17, '6PTSD': 1, '6-pyruvoyl-tetrahydropterin synthase deficiency': 39, '6-pyruvoyl-tetrahydrobiopterin synthase deficiency': 1, 'Tetrahydrobiopterin deficie... | PTS |
Disease | MESH:C535326 | {'limb injury': 508, 'Limb injury': 45, 'heart-hand syndromes': 22, 'Holt-Oram syndrome': 857, 'limb injuries': 671, 'HOS': 843, 'atrio-ventricular block': 1187, 'Ventriculo': 46, 'Ventriculo Direito ainda': 1, 'Ventriculo Direito': 11, 'ventriculo direito': 51, 'swollen hands syndrome': 2, 'atrio-ventricular node': 11... | atrio-ventricular block |
Disease | MESH:C535328 | {'Carnosinemia': 8, 'carnosinase deficiency': 20, 'homocarnosinosis': 15, 'Serum carnosinase deficiency': 3, 'congenital carnosinase deficiency': 2, 'CARNOSINASE ACTIVITY': 1, 'carnosinemia': 20, 'deficiency of carnosinase': 2, 'Homocarnosinosis': 14, 'Plasma carnosinase deficiency': 1, 'Carnosinase deficiency': 2, 'pl... | carnosinase deficiency |
Disease | MESH:C535330 | {'CHLS': 8, 'LCS': 409, 'M-LCS': 1, 'Aagenaes syndrome': 32, "Aagenaes' syndrome": 1, 'LCS-': 2, 'LCS-2019': 2, 'LDCT-LCS': 2, 'lymphedema-cholestasis syndrome': 5, 'Lymphedema-cholestasis syndrome': 3, 'L4-5 LCS': 1, 'EPAD-LCS': 2, 'Lymphedema cholestasis syndrome 1': 2, 'lymphedema and cholestasis': 1, 'lymphedema ch... | LCS |
Disease | MESH:C535331 | {'AAS': 305, 'Aarskog-Scott syndrome': 103, 'Aarskog-Scott Syndrome': 18, 'ASS': 8, 'AAS abuse': 15, "Aarskog's faciodigitogenital syndrome": 1, 'autosomal recessive faciodigitogenital syndrome': 2, 'faciodigitogenital syndrome': 9, 'Aarskog syndrome': 131, 'faciogenital dysplasia': 80, 'KHLS': 1, 'Faciogenital Dysplas... | AAS |
Disease | MESH:C535332 | {'myocardial or other abnormalities': 1, 'cardiac or other abnormalities': 10, 'skeletal and other abnormalities': 6, 'Other Disorder': 4, 'stiffness in other joints': 3, 'externalizing (and other) disorders': 1, 'other disorders': 49, 'to joints and other': 1, 'Other defect': 1, 'OTHER SYSTEMS': 2, 'soreness in other ... | other disorders |
Disease | MESH:C535334 | {'gut dysfunction': 1058, 'Gut dysfunction': 81, 'ABCD': 1294, 'gut dysfunctions': 78, 'Gut Dysfunction': 33, 'GM dysfunctions': 1, 'ABCDE': 97, 'gut microbiome dysfunction': 4, 'ABCDE 81.82 -': 1, 'neurocytes': 3, 'ABCDs': 40, 'GOLD ABCD': 5, 'gut mucosa dysfunction': 3, 'neurocyte': 17, 'gut microbiota dysfunction': ... | ABCD |
Disease | MESH:C535336 | {'sclerodactyly': 1344, 'Sclerodactyly': 219, 'bilateral sclerodactyly': 1, 'sclerodactyly of': 4, 'puffy fingers or sclerodactyly': 1, 'Sclerodactyly of the': 1, 'sclerodactyly in': 1, 'Cutaneous Sclerodactyly': 2, 'Cutaneous Sclerodactyly': 1, 'sclerodactyly and': 1, 'Scleroderma type sclerodactyly': 1, 'scleroda... | sclerodactyly |
Disease | MESH:C535337 | {'or type 18': 1, 'RCM type 2': 1, 'cataract 18': 2, 'arCC-2': 1, 'myocardial ischaemia.18': 2, 'disorders.18': 1, 'Fimbria type 18': 1, 'autosomal recessive congenital 2': 2, 'cataract-18': 1, 'autosomal recessive congenital cataract-2': 2, 'myocardial ischemia.18': 2, 'autosomal recessive cataract 18': 1, 'CTRCT18': ... | cataract 18 |
Disease | MESH:C535338 | {'congenital total cataracts': 7, 'TS': 132, 'cytotoxicity.40': 2, 'TLS:213': 1, 'TLS:219': 1, 'TLS:107': 1, 'TP': 296, 'TPIAT': 1, 'TOTAL': 806, 'emotional, conduct and total': 2, 'TG': 191, 'TAUC': 3, 'total': 359, 'seizures.40': 5, 'T-AOC': 551, 'TA': 79, 'TD': 209, 'TLS': 96, 'TIC': 228, 'SLIGHT': 12, 'TTP': 1, 'TC... | TOTAL |
Disease | MESH:C535339 | {'CONCRETENESS EFFECT RELATED TO CORTICAL': 1, 'age-related cortical cataracts': 17, 'age-related visual and cortical disorders': 1, 'age-related cortical cataract': 14, 'ARCC': 11, 'Age-related cortical neurodegeneration': 1, 'Age-related cortical cataracts': 2, 'cortical-related disease': 1, '1 PPC': 1, 'Age-related ... | age-related cortical cataracts |
Disease | MESH:C535342 | {'Lamellar': 28, 'lamellar cataracts': 33, 'Perinuclear lipofuscin': 1, 'ALK': 8, 'Perinuclear antineutrophil cytoplasmic antibody-': 1, 'CTM': 390, 'Perinuclear nonlipofuscin': 1, 'lamellar trama': 2, 'DALK': 203, 'deep anterior lamellar keratoplasty': 6, 'ALTK': 2, 'ZONULAR': 1, 'LBC': 3, 'outer lamellar defect': 1, ... | CTM |
Disease | MESH:C535343 | {'posterior polar': 19, 'fracture type 31': 1, 'AO/OTA type 31-A1 or 31-A2 fractures': 1, 'SCA type 31': 1, '3 PPC': 1, 'type 3 PPC': 2, 'type 31-': 2, 'AO/OTA type 31-': 4, 'CONGENITAL POSTERIOR POLAR CHORIORETINAL HYPOPLASIA': 1, 'congenital posterior polar chorioretinal hypoplasia': 2, 'AO types 31-A1 and 31-A2': 1,... | posterior polar |
Disease | MESH:C535344 | {'TGA type III 11': 1, 'II, and type-11/2': 1, 'type-11 cryoglobulinaemia': 1, 'multiple sclerosis 11': 1, 'MS.11': 6, 'MS,11': 2, 'AQP4 polarity disorder': 1, 'ST11': 3, 'MS:11.9': 1, 'and type-II errors.11': 1, 'CeraRoot type 11': 1, 'CATARACT 11': 1, 'cataract 11': 3, 'multiple sclerosis,11': 3, 'IGS types 4 and 1... | ST-11 |
Disease | MESH:C535346 | {'forelock': 8, 'hypopigmentation of the forelock': 1, 'forelock repigmentation': 1, 'forelocks': 1, 'forelock pigmentation loss': 1, 'hypopigmented forelock': 1} | forelock |
Disease | MESH:C535349 | {'depressor': 680, 'ACF': 588, 'unilateral vestibular paresis': 8, 'unilateral upper limb conversion paresis': 2, 'unilateral facial paralysis': 215, 'crying facies': 18, 'unilateral facial palsy': 232, 'Unilateral facial swelling': 9, 'TDT': 11, 'Unilateral paresis': 6, 'unilateral facial drooping': 2, 'unilateral par... | depressor |
Disease | MESH:C535351 | {'CAPOS syndrome': 62, 'CAPOS) syndrome': 3, 'CAPOS': 55, 'Capo Peloro': 1, 'capo aria': 1, 'da capo aria': 1, 'CAPOS Syndrome': 6, 'CF': 1, 'CA': 1, 'CAPOS syndromes': 1, 'CAPOS overlap syndrome': 1, 'Capo II': 1, 'CaPo-tris': 1, 'CaPo-bis': 1, 'CaPo': 1, "Capo d'Istria": 1, 'Da capo-crescendo': 1, 'capos': 1, 'CAPOS ... | CAPOS syndrome |
Disease | MESH:C535352 | {'Subacute cerebellar syndrome': 3, 'SCD subacute cerebellar degeneration': 1, 'subacute cerebellar syndrome': 1, 'SCCD': 1, 'Subacute cerebellar degeneration': 4, 'SCD': 4, 'Subacute Cerebellar syndrome': 1, 'subacute cerebellar degeneration': 2, 'Cerebellar subacute syndrome': 1, 'cerebellar subacute infarctionCT': 1... | Subacute cerebellar degeneration |
Disease | MESH:C535355 | {'rMDD': 97, '-remitting': 156, 'RGD': 16, 'Remitting seronegative symmetrical synovitis with pitting edema': 38, 'remitting seronegative symmetrical synovitis with pitting edema': 19, 'Remitted disorder': 1, 'remitting': 91, '-remitting disease': 6, '-remitting MS': 18, '- remitting': 1, 'Paraneoplastic remitting sero... | -remitting |
Disease | MESH:C535356 | {'bifocal carcinoma': 6, 'Bifocal fractures': 1, 'BF': 2, 'bifocal chorioretinal atrophy': 13, 'femoral or bifocal deformity': 1, 'femoral and bifocal deformity': 1, 'Bifocal': 1, 'Bifocal disease': 1, 'bifocal diseases45': 1, 'bifocal disease': 5, 'bifocal': 8, 'bifocal deformity': 1, 'BIF': 1, 'PBCRA': 7, 'progressiv... | bifocal chorioretinal atrophy |
Disease | MESH:C535357 | {'CP calcification': 5, 'calcification of the choroid plexus': 15, 'cerebral calcifications syndrome': 2, 'CEC': 1, 'Cerebral calcifications syndrome': 1, 'choroid plexus calcification': 39, 'choroido-neovascular membrane': 1, 'calcification of the cerebral choroid plexus': 1, 'LCP calcification': 1, 'calcification of ... | choroid plexus calcification |
Disease | MESH:C535358 | {'choroidal sclerosis-type change': 1, 'choroidal sclerosis': 96, '-areolar': 29, 'peripapillary choroidal sclerosis': 2, 'Central Areolar Choroidal Dystrophy': 7, 'CACD': 68, 'central areolar choroidal dystrophy': 90, 'areolar': 24, 'supra areolar lesion': 1, 'areolar choroidal dystrophy': 45, 'autosomal dominant cent... | choroidal sclerosis |
Disease | MESH:C535361 | {'Aortic ring calcification': 3, 'aortic ring calcification': 12, 'Aortic ring anomalies': 3, 'pulmonary ring': 1, 'Ring/Giant chromosome 1': 1, 'Lateral Compression Type 1 Pelvic Ring Injuries': 1, 'lateral compression type 1 pelvic ring injuries': 1, 'lateral compression type 1 (LC1) pelvic ring injuries': 1, 'C-1 ri... | aortic ring calcification |
Disease | MESH:C535362 | {'1p36)': 1, '1p36 deletion syndrome': 279, '1p36 deletion': 92, 'monosomy 1p36': 41, 'Monosomy 1p36 syndrome': 5, 'monosomy 1p36 deletion': 1, '1p36 microdeletion syndrome': 25, '1p36': 31, '1p36 syndrome': 16, '1p36 delection syndrome': 1, '1p36 terminal deletion': 1, '1p36 Deletion': 3, '1p36 deletion4': 1, '1p36 mo... | 1p36 deletion syndrome |
Disease | MESH:C535364 | {'1p21 deletions': 1, '1p21.3 duplication': 1, '1p21': 2, '1p21 deletion': 1} | 1p21 |
Disease | MESH:C535365 | {'PPC': 1, 'p21 deficiency': 5, 'P21 deficiency': 3, 'P21': 2, 'PAK': 3, 'cTKO;p21': 1, 'PBD': 5, 'Paks': 1, 'EOD-P21.1': 1, 'p21': 1, 'type II PAK': 1, 'p21-pter': 1, 'P21 deletion syndrome': 1, 'P21/c': 1, 'PID': 3, 'p21.3': 1, 'hyperactive Ras': 1, 'Hyperactive Ras': 1, 'X-chromosomal (p21) muscular dystrophy': 1, '... | p21 deficiency |
Disease | MESH:C535369 | {'RC20': 1, 'ring chromosome 20': 29, 'Ring chromosome 20': 22, 'Ring Chromosome 20': 4, 'ring 20 chromosome anomaly': 1, 'supernumerary minute ring chromosome 20': 2, 'RC 20': 1, 'supernumerary ring chromosome 20': 2, 'ring 20 chromosome': 1, 'Ring 20 chromosome': 1, 'r20': 1, 'with ring chromosome 20': 1, 'Ring-20 ch... | ring chromosome 20 |
Disease | MESH:C535370 | {'Familial tiny 9p/20p': 1, '20P': 1, 'deletion of chromosome 20p': 2, 'deletion of 20': 2, '20p': 10, 'dup(20p) syndrome': 1, 'monosomy 20p': 3, 'Monosomy 20p': 1, 'deletion of 20p': 2, '20p deletions': 1, 'Deletion of 20p': 1, 'of 20p': 1, 'chromosome 20p deletion': 1, 'monosomy 20p-': 1, 'chromosome 20p': 1, 'Chromo... | 20p |
Disease | MESH:C535371 | {'trisomy 20p': 31, 'trisomy of 20p': 1, 'Trisomy 20p': 14, '20p trisomy syndrome': 3, '20p duplication chromosomal abnormality': 1, 'trisomy 20p syndrome': 6, 'trisomy 20p syndromes': 1, 'duplication of 20p': 2, 'duplication 20p': 2, 'duplication 20p syndrome': 1, '20p trisomy': 2, 'Familial trisomy 20p': 1, 'Chromoso... | trisomy 20p |
Disease | MESH:C535372 | {'Trisomy 20': 52, 'trisomy 7, 14, 18, 20, 48': 1, 'trisomy 6, 7, 11, 14, 15, 16, and 20': 1, 'trisomy of chromosome 20': 13, 'trisomy 20': 193, '-Trisomy 20 47': 1, 'trisomies 7, 18, and 20': 2, 'monosomy of chromosome 20': 1, 'Chromosome 20': 4, 'trisomy 16 and 20': 1, 'trisomies 2, 3, 4, 5, 18, 20, and 22': 1, 'Tris... | trisomy 20 |
Disease | MESH:C535374 | {'Dermatopathia Pigmentosa Reticularis': 9, 'dermatopathia pigmentosa reticularis': 44, 'R-DPR': 1, 'DPR': 65, 'DPR syndromes': 1, 'DPR pigmentation anomaly': 1, 'Dermatopathia pigmentosa reticularis': 26, 'dermatopathia pigmentosa reticularis syndrome AD': 1, 'DPR abnormalities': 1, 'Dermatopathia pigmentosa reticular... | DPR |
Disease | MESH:C535375 | {'Ullrich-Fremerey-Dohna-Francois syndrome': 2, 'FRANCOIS': 2, "Francois' langurs": 3, "Francois' langur": 4, 'Francois de Meyronnes OFM': 1, 'Fraser-Francois syndrome': 3, 'Francois syndrome': 17, 'FRANCOIS GARDY': 1, "Francois' syndrome": 8, 'Francois and Haustrat syndrome': 1, 'Francois-Katz syndrome': 2, 'FXB': 2, ... | Francois syndrome |
Disease | MESH:C535376 | {'CND': 294, 'Dermoid of the cornea': 2, 'Bilateral corneal hysteresis': 1, 'CND metastasis': 1, 'Munoz-Comet': 1, 'Tisnado-Munoz and Noriega syndrome': 1, 'Dermoid of cornea': 1, 'impairment of cornea': 1, 'CD-CND': 1, 'WM': 2, 'congenital bilateral corneal anesthesia': 1, 'WM Problemas aplicados': 1, 'CND-P': 1, 'CND... | CND |
Disease | MESH:C535377 | {'EB': 2207, 'pa': 78, 'Pa': 333, 'PAs': 2230, 'EB-CE': 1, 'ECe': 1, 'JEB-PA': 23, 'junctional epidermolysis bullosa with pyloric atresia': 18, 'PA-JEB': 23, 'CMV-Pa': 1, 'Pas de lesions surrenaliennes': 1, 'pa-disease': 1, 'nyes pas': 1, 'Eb': 52, 'faux pas': 24, 'TFEB': 6, 'junctional EB': 13, 'Carmi syndrome': 15, '... | PAs |
Disease | MESH:C535378 | {'Distal arthrogryposis': 91, 'distal arthrogryposis type 1': 28, 'distal arthrogryposis': 333, 'DA': 91, 'Distal arthrogryposis type 1': 10, 'AMC- Distal arthrogryposis 1': 1, 'type I distal arthrogryposis': 2, 'distal arthrogryposis type-1': 2, 'DA syndromes': 12, 'Distal Arthrogryposis (DA) syndromes': 1, 'distal ... | distal arthrogryposis |
Disease | MESH:C535379 | {'congenital distal arthrogryposis': 9, 'thrombotic involvement of major': 1, 'distal arthrogryposis type IIA': 1, 'facial and hand involvement': 1, 'facial or hand involvement': 1, 'Familial distal arthrogryposis': 1, 'type II distal arthrogryposis': 2, 'autosomal dominant type II distal arthrogryposis': 1, 'Arthrogry... | congenital distal arthrogryposis |
Disease | MESH:C535380 | {'X-linked Infantile Spinal Muscular Atrophy': 2, 'X-linked spinal muscular atrophy': 28, 'X-linked arthrogryposis': 8, 'X-linked SMA': 14, 'X-Linked Spinal Muscular Atrophy': 2, 'XL-SMA': 14, 'X-linked lethal': 5, 'X-linked infantile spinal muscular atrophy': 17, 'XLSMA': 1, 'I 2': 3, 'X-linked infantile SMA': 8, 'SMA... | X-linked spinal muscular atrophy |
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