Wikidata:Database reports/Complex constraint violations/P492

Complex constraint violations report for OMIM ID (discussion, uses, items, changes): Online "Mendelian Inheritance in Man" catalogue codes for diseases, genes, or phenotypes

Data time stamp: 26 April 2024, 03:25 (UTC)

The report is generated based on the settings on Property talk:P492.

Updates overwrite this page. Some may already be fixed since the last update: check RecentChangesLinked.

The report can include false positives. No need to "fix" them.

Modified single value constraint

Modified single value constraint
Lists items having more than one value, except if one of the statements has a mapping relation type (P4390) qualifier, see discusion below. Please don't switch on the normal single value0 constraint, use this instead.

query in WDQS

307 violations

Query time: 1.59 s

• systemic lupus erythematosus (Q1485): systemic lupus erythematosus, 12, 152700, 614420,
• multiple sclerosis (Q8277): multiple sclerosis, 3, 612594, 612596,
• celiac disease (Q11088): celiac disease, 9, 607202, 612011,
• hyperthyroidism (Q16499): hyperthyroidism, 2, 603373, 609152,
• frontotemporal dementia (Q18592): frontotemporal dementia, 2, 600274, 600795,
• bronchiectasis (Q32778): bronchiectasis, 3, 211400, 613071,
• leprosy (Q36956): leprosy, 3, 607572, 613407,
• major depressive disorder (Q42844): major depressive disorder, 2, 608520, 608691,
• lung cancer (Q47912): lung cancer, 5, 211980, 614210,
• pre-eclampsia (Q61335): pre-eclampsia, 5, 189800, 614592,
• albinism (Q81867): albinism, 21, 103470, 609227,
• cataract (Q127724): cataract, 2, 116200, 601371,
• bipolar disorder (Q131755): bipolar disorder, 2, 125480, 309200,
• dyslexia (Q132971): dyslexia, 6, 300509, 608995,
• hemophilia (Q134003): hemophilia, 3, 264900, 306900,
• cone dystrophy (Q147270): cone dystrophy, 5, 180020, 613093,
• Asperger syndrome (Q161790): Asperger syndrome, 4, 608631, 609954,
• myopia (Q168403): myopia, 23, 160700, 615946,
• ovarian cancer (Q172341): ovarian cancer, 2, 167000, 607893,
• adult Refsum disease (Q177809): adult Refsum disease, 2, 266500, 266510,
• acute lymphocytic leukemia (Q180664): acute lymphocytic leukemia, 2, 247640, 613065,
• prostate cancer (Q181257): prostate cancer, 17, 176807, 611959,
• attention deficit hyperactivity disorder (Q181923): attention deficit hyperactivity disorder, 7, 143465, 612312,
• rickets (Q183392): rickets, 4, 264700, 600785,
• stuttering (Q186676): stuttering, 4, 184450, 614668,
• Li-Fraumeni syndrome (Q187542): Li-Fraumeni syndrome, 2, 151623, 609265,
• narcolepsy (Q189561): narcolepsy, 7, 161400, 614250,
• stomach cancer (Q189588): stomach cancer, 2, 137215, 613659,
• hydrocephalus (Q193003): hydrocephalus, 5, 123155, 615219,
• Hodgkin lymphoma (Q209369): Hodgkin lymphoma, 3, 236000, 400021,
• diabetes insipidus (Q220551): diabetes insipidus, 2, 125800, 304800,
• Bruton-type agammaglobulinemia (Q283108): Bruton-type agammaglobulinemia, 2, 300310, 300755,
• Schindler disease (Q310335): Schindler disease, 2, 609241, 609242,
• hidradenitis suppurativa (Q341999): hidradenitis suppurativa, 3, 142690, 613737,
• Adams-Oliver syndrome (Q351708): Adams-Oliver syndrome, 5, 100300, 616028,
• congenital adrenal hyperplasia (Q366868): congenital adrenal hyperplasia, 5, 201710, 202110,
• polydactyly (Q371520): polydactyly, 4, 174200, 603596,
• Langerhans-cell histiocytosis (Q374036): Langerhans-cell histiocytosis, 2, 246400, 604856,
• craniosynostosis (Q378183): craniosynostosis, 6, 123100, 615314,
• atrioventricular septal defect (Q390211): atrioventricular septal defect, 4, 600309, 614474,
• maple syrup urine disease (Q402575): maple syrup urine disease, 3, 246900, 615135,
• acanthosis nigricans (Q415833): acanthosis nigricans, 2, 100600, 200170,
• pulmonary alveolar proteinosis (Q448698): pulmonary alveolar proteinosis, 5, 265120, 614370,
• complete androgen insensitivity syndrome (Q473262): complete androgen insensitivity syndrome, 2, 300068, 312300,
• Camurati-Engelmann disease (Q498487): Camurati-Engelmann disease, 2, 131300, 606631,
• neural tube defect (Q548213): neural tube defect, 2, 301410, 601634,
• dentinogenesis imperfecta (Q548984): dentinogenesis imperfecta, 2, 125490, 125500,
• chondrocalcinosis (Q559082): chondrocalcinosis, 3, 118600, 600668,
• Morquio syndrome (Q580285): Morquio syndrome, 2, 253000, 253010,
• paraganglioma (Q581592): paraganglioma, 5, 115310, 614165,
• Antley-Bixler syndrome (Q585011): Antley-Bixler syndrome, 2, 201750, 207410,
• thrombocytopenia (Q585285): thrombocytopenia, 5, 188000, 612004,
• myotonia congenita (Q587420): myotonia congenita, 2, 160800, 255700,
• keratoconus (Q611984): keratoconus, 8, 148300, 614629,
• hypokalemic periodic paralysis (Q622828): hypokalemic periodic paralysis, 2, 170400, 613345,
• Blount's disease (Q624398): Blount's disease, 2, 188700, 259200,
• glycogen storage disease I (Q630090): glycogen storage disease I, 3, 232200, 232240,
• premature ovarian failure (Q647630): premature ovarian failure, 9, 300511, 615724,
• Rubinstein-Taybi syndrome (Q666980): Rubinstein-Taybi syndrome, 3, 180849, 613684,
• essential tremor (Q693519): essential tremor, 4, 190300, 614782,
• mitral valve prolapse (Q735652): mitral valve prolapse, 3, 157700, 610840,
• asplenia (Q737712): asplenia, 2, 208530, 208540,
• panic disorder (Q741713): panic disorder, 3, 167870, 609985,
• Treacher Collins syndrome (Q744790): Treacher Collins syndrome, 3, 154500, 613717,
• otosclerosis (Q756610): otosclerosis, 8, 166800, 615589,
• galactosemia (Q774483): galactosemia, 2, 230350, 230400,
• specific language impairment (Q775593): specific language impairment, 5, 606711, 615432,
• cleidocranial dysplasia (Q781618): cleidocranial dysplasia, 2, 119600, 216330,
• centronuclear myopathy (Q782958): centronuclear myopathy, 5, 160150, 615959,
• benign paroxysmal positional nystagmus (Q817310): benign paroxysmal positional nystagmus, 2, 193007, 613106,
• vitelliform macular dystrophy (Q830265): vitelliform macular dystrophy, 5, 153700, 616152,
• ventricular septal defect (Q838139): ventricular septal defect, 3, 614429, 614432,
• coronary artery disease (Q844935): coronary artery disease, 9, 300464, 614293,
• citrullinemia (Q859142): citrullinemia, 3, 215700, 605814,
• Friedreich ataxia (Q913856): Friedreich ataxia, 2, 229300, 601992,
• Cockayne syndrome (Q914389): Cockayne syndrome, 2, 133540, 216400,
• lymphedema (Q916398): lymphedema, 6, 153100, 615907,
• Rett syndrome (Q917357): Rett syndrome, 2, 312750, 613454,
• hypopituitarism (Q922411): hypopituitarism, 5, 221750, 613986,
• hypogonadism (Q938107): hypogonadism, 2, 241100, 312300,
• immunoglobulin A deficiency (Q942926): immunoglobulin A deficiency, 3, 137100, 609529,
• progressive supranuclear palsy (Q945930): progressive supranuclear palsy, 3, 601104, 610898,
• XY gonadal dysgenesis (Q957751): XY gonadal dysgenesis, 10, 154230, 616067,
• essential hypertension (Q988405): essential hypertension, 9, 145500, 611014,
• homocystinuria (Q994859): homocystinuria, 2, 236200, 236250,
• agammaglobulinemia (Q1047559): agammaglobulinemia, 7, 601495, 615214,
• inherited pseudoxanthoma elasticum (Q1052391): inherited pseudoxanthoma elasticum, 2, 177850, 264800,
• pulmonary hemosiderosis (Q1052626): pulmonary hemosiderosis, 2, 178550, 235500,
• primary biliary cholangitis (Q1072420): primary biliary cholangitis, 5, 109720, 614221,
• choreatic disease (Q1076421): choreatic disease, 2, 118700, 215450,
• hypohidrotic ectodermal dysplasia (Q1077955): hypohidrotic ectodermal dysplasia, 4, 129490, 305100,
• chronic lymphocytic leukemia (Q1088156): chronic lymphocytic leukemia, 6, 109543, 612559,
• cardiofaciocutaneous syndrome (Q1097490): cardiofaciocutaneous syndrome, 4, 115150, 615280,
• metachromatic leukodystrophy (Q1120682): metachromatic leukodystrophy, 2, 249900, 250100,
• mydriasis (Q1128283): mydriasis, 3, 106240, 159420,
• hypospadias (Q1132108): hypospadias, 4, 146450, 300856,
• muscular dystrophy (Q1137767): muscular dystrophy, 7, 158800, 600416,
• hemolytic anemia (Q1145668): hemolytic anemia, 2, 266120, 612631,
• cystinosis (Q1149042): cystinosis, 3, 219750, 219900,
• Fanconi syndrome (Q1179460): Fanconi syndrome, 3, 134600, 615605,
• Diamond-Blackfan anemia (Q1208654): Diamond-Blackfan anemia, 13, 105650, 615909,
• Duane retraction syndrome (Q1262684): Duane retraction syndrome, 2, 126800, 604356,
• neurilemmomatosis (Q1286320): neurilemmomatosis, 2, 162091, 615670,
• rhabdoid tumor predisposition syndrome (Q1325512): rhabdoid tumor predisposition syndrome, 2, 609322, 613325,
• Hirschsprung's disease (Q1343645): Hirschsprung's disease, 5, 600156, 611644,
• hyperparathyroidism (Q1344835): hyperparathyroidism, 3, 145000, 610071,
• syndactyly (Q1360044): syndactyly, 4, 185900, 186300,
• factor XIII deficiency (Q1393725): factor XIII deficiency, 2, 613225, 613235,
• facioscapulohumeral muscular dystrophy (Q1399182): facioscapulohumeral muscular dystrophy, 2, 158900, 158901,
• oculocutaneous albinism type 1 (Q1401065): oculocutaneous albinism type 1, 2, 203100, 606952,
• coloboma (Q1462309): coloboma, 3, 120200, 216820,
• common variable immunodeficiency (Q1472818): common variable immunodeficiency, 10, 240500, 615767,
• xanthinuria (Q1476965): xanthinuria, 2, 278300, 603592,
• porphyria cutanea tarda (Q1479497): porphyria cutanea tarda, 2, 176090, 176100,
• short QT syndrome (Q1484058): short QT syndrome, 3, 609620, 609622,
• renal tubular acidosis (Q1516211): renal tubular acidosis, 3, 179830, 602722,
• Kabuki syndrome (Q1538227): Kabuki syndrome, 2, 147920, 300867,
• lissencephaly (Q1544416): lissencephaly, 6, 300067, 615191,
• tooth agenesis (Q1549421): tooth agenesis, 6, 106600, 610926,
• vesicoureteral reflux (Q1550521): vesicoureteral reflux, 10, 193000, 615963,
• microphthalmia (Q1557239): microphthalmia, 9, 206900, 615972,
• hypoparathyroidism (Q1586088): hypoparathyroidism, 2, 146200, 307700,
• popliteal pterygium syndrome (Q1587881): popliteal pterygium syndrome, 2, 119500, 263650,
• hyperaldosteronism (Q1640860): hyperaldosteronism, 2, 605635, 613677,
• hypoplastic left heart syndrome (Q1641399): hypoplastic left heart syndrome, 2, 241550, 614435,
• nasopharynx carcinoma (Q1693598): nasopharynx carcinoma, 2, 161550, 607107,
• VACTERL association (Q1755537): VACTERL association, 2, 192350, 276950,
• sick sinus syndrome (Q1757915): sick sinus syndrome, 2, 163800, 608567,
• Sotos syndrome (Q1770836): Sotos syndrome, 2, 117550, 614753,
• Klippel-Feil syndrome (Q1774751): Klippel-Feil syndrome, 3, 118100, 613702,
• Waldenström macroglobulinemia (Q1778287): Waldenström macroglobulinemia, 2, 153600, 610430,
• hyperekplexia (Q1781802): hyperekplexia, 2, 149400, 300607,
• thanatophoric dysplasia (Q1787020): thanatophoric dysplasia, 3, 187600, 273680,
• LEOPARD syndrome (Q1798016): LEOPARD syndrome, 3, 151100, 613707,
• Leigh disease (Q1815019): Leigh disease, 2, 220111, 256000,
• inclusion body myositis (Q1848471): inclusion body myositis, 3, 147421, 605820,
• mucopolysaccharidosis I (Q1906054): mucopolysaccharidosis I, 2, 607014, 607015,
• moya moya disease (Q1951267): moya moya disease, 6, 252350, 615750,
• hereditary multiple exostoses (Q1952467): hereditary multiple exostoses, 3, 133700, 600209,
• myoglobinuria (Q1956682): myoglobinuria, 3, 160010, 550500,
• congenital fiber-type disproportion (Q1956696): congenital fiber-type disproportion, 2, 255310, 300580,
• carnitine palmitoyltransferase II deficiency (Q2033861): carnitine palmitoyltransferase II deficiency, 3, 255110, 608836,
• Paget's disease of bone (Q2035074): Paget's disease of bone, 3, 167250, 606263,
• partial androgen insensitivity syndrome (Q2037224): partial androgen insensitivity syndrome, 2, 300068, 312300,
• visceral leishmaniasis (Q2046113): visceral leishmaniasis, 3, 608207, 611382,
• eosinophilic esophagitis (Q2057356): eosinophilic esophagitis, 2, 610247, 613412,
• Niemann–Pick disease, type C (Q2067267): Niemann–Pick disease, type C, 2, 257220, 607625,
• hereditary angioedema (Q2096745): hereditary angioedema, 2, 106100, 610618,
• renal-hepatic-pancreatic dysplasia (Q2144212): renal-hepatic-pancreatic dysplasia, 2, 208540, 615415,
• restrictive cardiomyopathy (Q2151267): restrictive cardiomyopathy, 3, 115210, 612422,
• congenital diaphragmatic hernia (Q2163245): congenital diaphragmatic hernia, 3, 142340, 610187,
• Sanfilippo syndrome (Q2200359): Sanfilippo syndrome, 4, 252900, 252940,
• Carpenter syndrome (Q2272470): Carpenter syndrome, 2, 201000, 614976,
• androgenic alopecia (Q2276095): androgenic alopecia, 3, 109200, 612421,
• branchiootorenal syndrome (Q2280106): branchiootorenal syndrome, 2, 113650, 610896,
• Stickler syndrome (Q2288646): Stickler syndrome, 3, 108300, 604841,
• hereditary elliptocytosis (Q2298020): hereditary elliptocytosis, 2, 130600, 611804,
• familial lipoprotein lipase deficiency (Q2349695): familial lipoprotein lipase deficiency, 2, 118830, 238600,
• nephrogenic diabetes insipidus (Q2892779): nephrogenic diabetes insipidus, 2, 125800, 304800,
• citrullinemia type II (Q2974525): citrullinemia type II, 2, 603471, 605814,
• type 2 diabetes (Q3025883): type 2 diabetes, 5, 125853, 608036,
• dysferlinopathy (Q3042104): dysferlinopathy, 2, 253601, 254130,
• congenital insensitivity to pain (Q3045238): congenital insensitivity to pain, 2, 147430, 243000,
• fibrochondrogenesis (Q3071315): fibrochondrogenesis, 2, 228520, 614524,
• primary congenital glaucoma (Q3108582): primary congenital glaucoma, 2, 613085, 613086,
• open-angle glaucoma (Q3108586): open-angle glaucoma, 13, 137750, 613100,
• epidermolysis bullosa simplex (Q3124960): epidermolysis bullosa simplex, 2, 601001, 615425,
• HFE hereditary haemochromatosis (Q3144934): HFE hereditary haemochromatosis, 2, 231100, 235200,
• Charcot-Marie-Tooth disease type 2 (Q3281254): Charcot-Marie-Tooth disease type 2, 2, 118230, 604484,
• Niemann–Pick disease, SMPD1-associated (Q3281285): Niemann–Pick disease, SMPD1-associated, 2, 257200, 607616,
• X-linked lymphoproliferative disease (Q3281380): X-linked lymphoproliferative disease, 2, 300635, 308240,
• Jervell-Lange Nielsen syndrome (Q3304152): Jervell-Lange Nielsen syndrome, 2, 220400, 612347,
• familial hemiplegic migraine (Q3312899): familial hemiplegic migraine, 3, 141500, 609634,
• 3-M syndrome (Q3335660): 3-M syndrome, 3, 273750, 614205,
• omodysplasia (Q3352097): omodysplasia, 2, 164745, 258315,
• brittle cornea syndrome (Q3508598): brittle cornea syndrome, 2, 229200, 614170,
• Bare lymphocyte syndrome (Q3508735): Bare lymphocyte syndrome, 2, 209920, 604571,
• Opitz-GBBB syndrome (Q3508750): Opitz-GBBB syndrome, 2, 145410, 300000,
• inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Q3508770): inclusion body myopathy with Paget disease of bone and frontotemporal dementia, 3, 167320, 615424,
• Malignant Migrating Partial Seizures in Infancy (Q3589156): Malignant Migrating Partial Seizures in Infancy, 3, 613722, 615338,
• beta thalassemia (Q3616632): beta thalassemia, 3, 187550, 613985,
• thoracic aortic aneurysm (Q3616648): thoracic aortic aneurysm, 6, 132900, 615436,
• central sleep apnea (Q3620651): central sleep apnea, 2, 107640, 207720,
• optic atrophy (Q3629049): optic atrophy, 6, 165300, 610708,
• chronic mucocutaneous candidiasis (Q3705799): chronic mucocutaneous candidiasis, 9, 114580, 616445,
• craniometaphyseal dysplasia (Q3710209): craniometaphyseal dysplasia, 5, 122860, 614378,
• hereditary stomatocytosis (Q3973817): hereditary stomatocytosis, 2, 185000, 185010,
• spastic quadriplegia (Q3985306): spastic quadriplegia, 2, 603513, 612900,
• dysequilibrium syndrome (Q4052543): dysequilibrium syndrome, 4, 224050, 615268,
• urofacial syndrome (Q4352832): urofacial syndrome, 2, 236730, 615112,
• acrodysostosis (Q4357287): acrodysostosis, 2, 101800, 614613,
• Dent disease (Q4420121): Dent disease, 2, 300009, 300555,
• short rib – polydactyly syndrome (Q4420146): short rib – polydactyly syndrome, 4, 263510, 269860,
• 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (Q4634219): 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, 2, 231530, 601609,
• acrofrontofacionasal dysostosis (Q4675773): acrofrontofacionasal dysostosis, 2, 201180, 239710,
• aggressive periodontitis (Q4692285): aggressive periodontitis, 2, 170650, 608526,
• Aromatase deficiency (Q4795506): Aromatase deficiency, 2, 107910, 613546,
• spondylocostal dysostosis (Q4821698): spondylocostal dysostosis, 5, 122600, 613686,
• benign familial infantile epilepsy (Q4887955): benign familial infantile epilepsy, 4, 601764, 612627,
• multiple symmetric lipomatosis (Q4887975): multiple symmetric lipomatosis, 2, 151800, 151900,
• CSK (Q5005962): CSK, 2, 124095, 190090,
• alopecia areata (Q5075435): alopecia areata, 2, 104000, 610753,
• Chilblain lupus (Q5097618): Chilblain lupus, 2, 610448, 614415,
• congenital dyserythropoietic anemia (Q5160422): congenital dyserythropoietic anemia, 5, 105600, 615631,
• Cutis verticis gyrata (Q5196861): Cutis verticis gyrata, 3, 219300, 605685,
• dentin dysplasia (Q5259533): dentin dysplasia, 2, 125400, 125420,
• nonepidermolytic palmoplantar keratoderma (Q5275419): nonepidermolytic palmoplantar keratoderma, 3, 600962, 615735,
• dyschromatosis universalis hereditaria (Q5319369): dyschromatosis universalis hereditaria, 3, 127500, 615402,
• familial atrial fibrillation (Q5432932): familial atrial fibrillation, 15, 607554, 615770,
• exudative vitreoretinopathy (Q5432936): exudative vitreoretinopathy, 5, 133780, 613310,
• Feingold syndrome (Q5441566): Feingold syndrome, 2, 164280, 614326,
• focal facial dermal dysplasia (Q5463849): focal facial dermal dysplasia, 2, 136500, 227260,
• gallbladder disease (Q5518905): gallbladder disease, 3, 609918, 611465,
• Glycogen storage disease type 0 (Q5572606): Glycogen storage disease type 0, 2, 240600, 611556,
• familial juvenile gout (Q5883713): familial juvenile gout, 3, 162000, 614227,
• hyperphenylalaninemia (Q5898279): hyperphenylalaninemia, 2, 261600, 261630,
• hydrolethalus syndrome (Q5955105): hydrolethalus syndrome, 2, 236680, 614120,
• neuronal intestinal dysplasia (Q6057481): neuronal intestinal dysplasia, 2, 243180, 601223,
• intracranial berry aneurysm (Q6058359): intracranial berry aneurysm, 11, 105800, 614252,
• persistent fetal vasculature (Q7170412): persistent fetal vasculature, 2, 221900, 611308,
• primary cutaneous amyloidosis (Q7243115): primary cutaneous amyloidosis, 2, 105250, 613955,
• primary hyperoxaluria (Q7243137): primary hyperoxaluria, 2, 260000, 613616,
• pseudo-Hurler polydystrophy (Q7254411): pseudo-Hurler polydystrophy, 2, 252600, 252605,
• pyruvate decarboxylase deficiency (Q7263801): pyruvate decarboxylase deficiency, 5, 245348, 614111,
• SLC25A6 (Q7390818): SLC25A6, 2, 300151, 403000,
• sialuria (Q7506696): sialuria, 2, 269921, 604369,
• neurofibromatosis type I (Q7616509): neurofibromatosis type I, 2, 162200, 162210,
• Surfactant metabolism dysfunction (Q7646050): Surfactant metabolism dysfunction, 4, 265120, 610921,
• synpolydactyly (Q7662637): synpolydactyly, 3, 186000, 610234,
• Terminal complement pathway deficiency (Q7702722): Terminal complement pathway deficiency, 4, 120950, 612446,
• transient neonatal diabetes mellitus (Q7834286): transient neonatal diabetes mellitus, 3, 601410, 610582,
• UV-sensitive syndrome (Q7876086): UV-sensitive syndrome, 3, 600630, 614640,
• X-linked congenital stationary night blindness (Q8041552): X-linked congenital stationary night blindness, 2, 300071, 310500,
• arterial calcification of infancy (Q9366868): arterial calcification of infancy, 2, 208000, 614473,
• Hoyeraal-Hreidarsson syndrome (Q9390252): Hoyeraal-Hreidarsson syndrome, 6, 305000, 616553,
• striatonigral degeneration (Q9392705): striatonigral degeneration, 3, 271930, 609161,
• gingival fibromatosis (Q10282075): gingival fibromatosis, 4, 135300, 611010,
• hyperlysinemia (Q10295763): hyperlysinemia, 2, 238700, 238710,
• megaloblastic anemia (Q10832211): megaloblastic anemia, 2, 261100, 613839,
• acrorenal syndrome (Q11850384): acrorenal syndrome, 2, 102520, 201310,
• neurohypophyseal diabetes insipidus (Q12412172): neurohypophyseal diabetes insipidus, 2, 125700, 304900,
• hyperprolinemia (Q13637044): hyperprolinemia, 2, 239500, 239510,
• MVK (Q14913011): MVK, 4, 175900, 610377,
• ASMT (Q14913316): ASMT, 2, 300015, 402500,
• CSF2RA (Q14914524): CSF2RA, 2, 306250, 425000,
• benign neonatal seizures (Q15975183): benign neonatal seizures, 3, 121200, 269720,
• multinodular goiter (Q16887028): multinodular goiter, 3, 138800, 606082,
• multiple pterygium syndrome (Q16889762): multiple pterygium syndrome, 4, 178110, 312150,
• mild androgen insensitivity syndrome (Q17012451): mild androgen insensitivity syndrome, 2, 300068, 312300,
• peeling skin syndrome (Q17120550): peeling skin syndrome, 2, 270300, 613088,
• Desbuquois dysplasia (Q17122800): Desbuquois dysplasia, 2, 251450, 615777,
• iridogoniodysgenesis syndrome (Q17125601): iridogoniodysgenesis syndrome, 2, 137600, 601631,
• IGH (Q18027694): IGH, 3, 146910, 147070,
• IL3RA (Q18027827): IL3RA, 2, 308385, 430000,
• CD99 (Q18029114): CD99, 2, 313470, 450000,
• AKAP17A (Q18032777): AKAP17A, 2, 312095, 465000,
• APOL1 (Q18033089): APOL1, 2, 603743, 607254,
• ASMTL (Q18033162): ASMTL, 2, 300162, 400011,
• RAD50 (Q18035037): RAD50, 2, 604040, 613078,
• ITGA11 (Q18036498): ITGA11, 2, 604042, 604789,
• PTPN20 (Q18038112): PTPN20, 2, 610630, 610631,
• ANGPTL4 (Q18040028): ANGPTL4, 2, 604774, 605910,
• CRLF2 (Q18045567): CRLF2, 2, 300357, 400023,
• SPANXD (Q18045702): SPANXD, 2, 300670, 300671,
• NBPF15 (Q18054347): NBPF15, 2, 610414, 614005,
• XAGE1B (Q18060550): XAGE1B, 3, 300289, 300745,
• XAGE1A (Q18060581): XAGE1A, 2, 300742, 300743,
• periventricular nodular heterotopia (Q18553263): periventricular nodular heterotopia, 5, 300049, 615544,
• D-2-hydroxyglutaric aciduria (Q18553318): D-2-hydroxyglutaric aciduria, 2, 600721, 613657,
• muscular dystrophy-dystroglycanopathy (Q18553324): muscular dystrophy-dystroglycanopathy, 16, 613150, 616094,
• hypochromic microcytic anemia (Q18553373): hypochromic microcytic anemia, 2, 206100, 615234,
• distal arthrogryposis (Q18553375): distal arthrogryposis, 14, 108120, 615065,
• atelosteogenesis (Q18553377): atelosteogenesis, 3, 108720, 256050,
• brachyolmia (Q18553406): brachyolmia, 4, 113500, 613678,
• multiple synostoses syndrome (Q18553479): multiple synostoses syndrome, 3, 186500, 612961,
• non-syndromic intellectual disability (Q18553537): non-syndromic intellectual disability, 2, 613192, 614202,
• migraine with aura (Q18553762): migraine with aura, 2, 609179, 609670,
• hypertrophic pyloric stenosis (Q18554354): hypertrophic pyloric stenosis, 5, 179010, 612525,
• primary pulmonary hypertension (Q18554794): primary pulmonary hypertension, 5, 178600, 615344,
• congenital nonspherocytic hemolytic anemia (Q18555220): congenital nonspherocytic hemolytic anemia, 4, 206300, 613470,
• testicular germ cell tumor (Q18556865): testicular germ cell tumor, 2, 273300, 300228,
• skin melanoma (Q18558032): skin melanoma, 2, 608035, 612263,
• congenital nystagmus (Q18558184): congenital nystagmus, 6, 164100, 614826,
• non-syndromic X-linked intellectual disability (Q18965508): non-syndromic X-linked intellectual disability, 36, 300046, 309549,
• branchiootic syndrome (Q18966109): branchiootic syndrome, 3, 120502, 608389,
• scapuloperoneal myopathy (Q18966132): scapuloperoneal myopathy, 2, 181430, 300695,
• congenital ptosis (Q18966140): congenital ptosis, 2, 178300, 300245,
• primary pigmented nodular adrenocortical disease (Q18987129): primary pigmented nodular adrenocortical disease, 4, 610475, 615830,
• parietal foramina (Q18987133): parietal foramina, 3, 168500, 609597,
• combined oxidative phosphorylation deficiency (Q18987134): combined oxidative phosphorylation deficiency, 24, 300816, 616239,
• cornea plana (Q18987135): cornea plana, 2, 121400, 217300,
• autosomal recessive non-syndromic intellectual disability (Q19587384): autosomal recessive non-syndromic intellectual disability, 33, 249500, 615942,
• SHOX (Q20781917): SHOX, 2, 312865, 400020,
• Cole-Carpenter syndrome (Q21127479): Cole-Carpenter syndrome, 2, 112240, 616294,
• humeroradial synostosis (Q21505493): humeroradial synostosis, 2, 143050, 236400,
• tubular aggregate myopathy (Q21505517): tubular aggregate myopathy, 2, 160565, 615883,
• reducing body myopathy (Q21505518): reducing body myopathy, 2, 300717, 300718,
• myopathy, lactic acidosis, and sideroblastic anemia (Q21505526): myopathy, lactic acidosis, and sideroblastic anemia, 3, 500011, 613561,
• globoszoospermia (Q27043982): globoszoospermia, 2, 102530, 613958,
• syndromic X-linked intellectual disability Turner type (Q28065615): syndromic X-linked intellectual disability Turner type, 2, 300706, 309590,
• Distal hereditary motor neuropathy type V (Q28134983): Distal hereditary motor neuropathy type V, 2, 600794, 614751,
• hyperlipoproteinemia type IV (Q28564860): hyperlipoproteinemia type IV, 2, 144600, 145750,
• auriculo condylar syndrome (Q29014971): auriculo condylar syndrome, 2, 602483, 612798,
• fetal akinesia deformation sequence (Q54366512): fetal akinesia deformation sequence, 2, 208150, 300073,
• encephalopathy, acute, infection-induced (Q55762936): encephalopathy, acute, infection-induced, 2, 601551, 610551,
• microcephaly and chorioretinopathy (Q55762937): microcephaly and chorioretinopathy, 2, 251270, 251279,
• familial natural short sleep (Q115249541): familial natural short sleep, 2, 612975, 618591,