Wikidata:Database reports/Constraint violations/P486
Jump to navigation
Jump to search
Constraint violations report for MeSH descriptor ID (Discussion, uses, items, changes, related properties): identifier for Descriptor or Supplementary concept in the Medical Subject Headings controlled vocabulary
Data time stamp: (UTC) — Items processed: 39,085
The report is generated based on the settings on Property:P486#P2302.
Updates overwrite this page. Some may already be fixed since the last update: check RecentChangesLinked.
When incremental dumps and the bot work as planned, items fixed before 07:00 UTC disappear in the next update. The report is not updated if only the item count changes.
The report can include false positives. There is no need to "fix" them.
Data time stamp: (UTC) — Items processed: 39,085
The report is generated based on the settings on Property:P486#P2302.
Updates overwrite this page. Some may already be fixed since the last update: check RecentChangesLinked.
When incremental dumps and the bot work as planned, items fixed before 07:00 UTC disappear in the next update. The report is not updated if only the item count changes.
The report can include false positives. There is no need to "fix" them.
"Unique value" violations
[edit]Violations count: 463 (+ 4 exceptions)
- C016766: (+/-)-sulforaphane (Q424489), (R)-sulforaphane (Q27120804)
- C023665: (−)-cathinone (Q414242), cathinone (Q7632116)
- C025164: fucoxanthin (Q96385), (1S,3R)-3-hydroxy-4-[(3Z,5E,7Z,9E,11Z,13E,15Z)-18-{(1S,4S,6R)-4-hydroxy-2,2,6-trimethyl-7-oxabicyclo[4.1.0]heptan-1-yl}-3,7,12,16-tetramethyl-17-oxooctadeca-1,3,5,7,9,11,13,15-octaen-1-ylidene]-3,5,5-trimethylcyclohexyl acetate (Q104389742)
- C027576: 4-hydroxy-2-nonenal (Q229982), 4-hydroxy-2-nonenal (Q229982)
- C031233: Polyhexanide (Q408205), 1-(diaminomethylidene)-2-hexylguanidine (Q114905732)
- C060921: (5bR,6S,12bS,5b'R,6'S,12b'S,5b''R,6''S,12b''S)-13,13',13''-[phosphorothioyltris(imino-2,1-ethanediyl)]tris(6-hydroxy-13-methyl-5b,6,7,12b,13,14-hexahydro[1,3]benzodioxolo[5,6-c][1,3]dioxolo[4,5-i]phenanthridin-13-ium) trihydroxide (Q502728), ukrain (Q124695321)
- C061004: (3R,4′RS)-benidipine (Q11336997), rac-benidipine (Q113514917)
- C413685: entecavir (Q418586), entecavir hydrate (Q27126952)
- C522667: asenapine (Q416545), (S,S)-asenapine (Q27074536)
- C531609: diffuse alopecia areata (Q9394945), diffuse alopecia areata (Q9394945)
- C531621: cutaneous anthrax (Q18557581), cutaneous anthrax (Q18557581)
- C531633: biotin deficiency (Q10264745), biotin deficiency (Q10264745)
- C535289: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Q940210), Rapp-Hodgkin syndrome (Q7294342)
- C535315: 4-hydroxyphenylacetic aciduria (Q55789854), 4-hydroxyphenylacetic aciduria (Q55789854)
- C535322: 5-oxoprolinase deficiency (Q52611903), 5-oxoprolinase deficiency (Q52611903)
- C535326: Holt-Oram syndrome (Q182005), Holt-Oram syndrome (Q182005)
- C535327: Holzgreve-Wagner-Rehder Syndrome (Q18412454), Holzgreve-Wagner-Rehder Syndrome (Q18412454)
- C535328: homocarnosinosis (Q18553707), homocarnosinosis (Q18553707)
- C535330: Aagenaes syndrome (Q300801), Aagenaes syndrome (Q300801)
- C535336: autosomal recessive palmoplantar keratoderma and congenital alopecia (Q55781720), autosomal recessive palmoplantar keratoderma and congenital alopecia (Q55781720)
- C535342: cataract 5 multiple types (Q27674895), cataract 5 multiple types (Q27674895)
- C535349: Asymmetric crying facies (Q4812072), Asymmetric crying facies (Q4812072)
- C535351: cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome (Q55345761), autosomal dominant optic atrophy plus syndrome (Q55345901)
- C535358: choroidal sclerosis (Q18558226), choroidal sclerosis (Q18558226), central areolar choroidal dystrophy (Q55345702)
- C535362: chromosome 1p36 deletion syndrome (Q3297103), chromosome 1p36 deletion syndrome (Q3297103)
- C535380: X-linked spinal muscular atrophy type 2 (Q8041562), infantile-onset X-linked spinal muscular atrophy (Q55345741)
- C535393: familial isolated deficiency of vitamin E (Q2868792), familial isolated deficiency of vitamin E (Q2868792)
- C535408: cystathioninuria (Q5201186), cystathioninuria (Q5201186)
- C535441: Bifid nose (Q42848169), Bifid nose (Q42848169)
- C535442: congenital bile acid synthesis defect 1 (Q42863605), congenital bile acid synthesis defect 1 (Q42863605)
- C535444: alpha-methylacyl-CoA racemase deficiency (Q27164415), congenital bile acid synthesis defect 4 (Q42863600)
- C535456: chronic recurrent multifocal osteomyelitis (Q2787011), chronic recurrent multifocal osteomyelitis (Q2787011)
- C535474: granular corneal dystrophy type II (Q21154084), granular corneal dystrophy type II (Q21154084)
- C535475: Schnyder corneal dystrophy (Q4162393), Schnyder corneal dystrophy (Q4162393)
- C535476: Reis-Bücklers corneal dystrophy (Q4162390), Reis-Bücklers corneal dystrophy (Q4162390)
- C535477: epithelial basement membrane dystrophy (Q4162388), epithelial basement membrane dystrophy (Q4162388)
- C535480: gelatinous drop-like corneal dystrophy (Q4178686), gelatinous drop-like corneal dystrophy (Q4178686)
- C535494: pretibial dystrophic epidermolysis bullosa (Q55780557), pretibial dystrophic epidermolysis bullosa (Q55780557)
- C535509: erythema elevatum diutinum (Q5396391), erythema elevatum diutinum (Q5396391)
- C535512: Leiner's disease (Q3591492), Leiner's disease (Q3591492)
- C535523: infantile onset spinocerebellar ataxia (Q18553306), mitochondrial DNA depletion syndrome 7 (Q26492819)
- C535556: syndromic X-linked intellectual disability Abidi type (Q28065622), syndromic X-linked intellectual disability Abidi type (Q28065622)
- C535557: ablepharon macrostomia syndrome (Q3508585), ablepharon macrostomia syndrome (Q3508585)
- C535562: congenital absence of septum pellucidum (Q55789858), congenital absence of septum pellucidum (Q55789858)
- C535564: hypoplastic tibiae-postaxial polydactyly syndrome (Q17122962), absent tibia-polydactyly syndrome (Q56014402)
- C535566: Vici syndrome (Q7925271), Vici syndrome (Q7925271)
- C535568: patella aplasia/hypoplasia (Q55781346), patella aplasia/hypoplasia (Q55781346)
- C535572: Cantú syndrome (Q5034093), Cantú syndrome (Q5034093)
- C535576: Heart valve dysplasia (Q5692507), X-linked cardiac valvular dysplasia (Q102293803)
- C535584: infantile histiocytoid cardiomyopathy (Q41516644), infantile histiocytoid cardiomyopathy (Q41516644)
- C535600: dopamine beta-hydroxylase deficiency (Q1242612), dopamine beta-hydroxylase deficiency (Q1242612)
- C535633: Harding ataxia (Q5656137), Harding ataxia (Q5656137)
- C535648: gastric lymphoma (Q2897350), gastric lymphoma (Q2897350)
- C535661: acromesomelic dysplasia, Maroteaux type (Q18553753), acromesomelic dysplasia, Maroteaux type (Q18553753)
- C535662: acromicric dysplasia (Q4676182), acromicric dysplasia (Q4676182)
- C535668: adrenocorticotropic hormone deficiency (Q3704730), adrenocorticotropic hormone deficiency (Q3704730)
- C535689: Laurin-Sandrow syndrome (Q55780712), Laurin-Sandrow syndrome (Q55780712)
- C535700: malignant mesenchymoma (Q18556993), malignant mesenchymoma (Q18556993)
- C535715: autosomal recessive distal spinal muscular atrophy 2 (Q16944450), autosomal recessive distal spinal muscular atrophy 2 (Q16944450)
- C535718: Dubowitz syndrome (Q574741), Dubowitz syndrome (Q574741)
- C535726: Dyggve–Melchior–Clausen syndrome (Q1268671), Dyggve–Melchior–Clausen syndrome (Q1268671)
- C535730: dyschromatosis universalis hereditaria (Q5319369), dyschromatosis universalis hereditaria (Q5319369)
- C535737: ethylmalonic encephalopathy (Q17119115), ethylmalonic encephalopathy (Q17119115)
- C535761: familial nephrotic syndrome (Q2160802), familial nephrotic syndrome (Q2160802), nephrotic syndrome type 1 (Q61913400)
- C535768: Daentl Towsend Siegel syndrome (Q5208264), Daentl Towsend Siegel syndrome (Q5208264)
- C535802: Sprengel's deformity (Q1850576), Sprengel's deformity (Q1850576)
- C535803: succinic semialdehyde dehydrogenase deficiency (Q2823333), succinic semialdehyde dehydrogenase deficiency (Q2823333)
- C535808: deafness dystonia syndrome (Q3508677), deafness dystonia syndrome (Q3508677)
- C535818: beta-ketothiolase deficiency (Q4897218), beta-ketothiolase deficiency (Q4897218)
- C535819: pseudoachondroplasia (Q693578), pseudoachondroplasia (Q693578)
- C535841: Hashimoto's encephalopathy (Q4532132), Hashimoto's encephalopathy (Q4532132)
- C535908: jaw-winking syndrome (Q1476789), jaw-winking syndrome (Q1476789)
- C535912: Marie Unna hereditary hypotrichosis (Q1641486), Marie Unna hereditary hypotrichosis (Q1641486)
- C535914: Mononen-Karnes-Senac syndrome (Q32145477), Mononen-Karnes-Senac syndrome (Q32145477)
- C535924: Chilblain lupus (Q5097618), Chilblain lupus (Q5097618)
- C535942: Thiel-Behnke corneal dystrophy (Q4162389), Thiel-Behnke corneal dystrophy (Q4162389)
- C535952: eosinophilic gastritis (Q18556159), eosinophilic gastritis (Q18556159), eosinophilic gastroenteritis (Q27555722)
- C535963: Cole-Carpenter syndrome (Q21127479), Cole-Carpenter syndrome (Q21127479)
- C535973: colpocephaly (Q5149292), colpocephaly (Q5149292)
- C535974: complete atrioventricular canal (Q55785365), complete atrioventricular canal (Q55785365)
- C535982: congenital amegakaryocytic thrombocytopenia (Q5160405), congenital amegakaryocytic thrombocytopenia (Q5160405)
- C535998: lactocele (Q686131), lactocele (Q686131)
- C536010: achalasia microcephaly syndrome (Q18553480), achalasia microcephaly syndrome (Q18553480)
- C536012: Achard syndrome (Q4673499), Achard syndrome (Q4673499)
- C536026: Marshall–Smith syndrome (Q2195906), Marshall–Smith syndrome (Q2195906)
- C536036: Binder syndrome (Q4913982), Binder syndrome (Q4913982)
- C536053: osteopathia striata with cranial sclerosis (Q32136756), osteopathia striata with cranial sclerosis (Q32136756)
- C536063: osteoporosis-pseudoglioma syndrome (Q32136402), osteoporosis-pseudoglioma syndrome (Q32136402)
- C536068: Hoyeraal-Hreidarsson syndrome (Q9390252), Hoyeraal-Hreidarsson syndrome (Q9390252)
- C536075: Wagner's disease (Q2470609), Wagner's disease (Q2470609)
- C536079: hydrolethalus syndrome (Q5955105), hydrolethalus syndrome (Q5955105)
- C536085: Ichthyosis follicularis with alopecia and photophobia syndrome (Q5986440), ichthyosis follicularis-alopecia-photophobia syndrome 1 (Q102293700)
- C536123: chondrodysplasia-pseudohermaphroditism syndrome (Q27674741), chondrodysplasia-pseudohermaphroditism syndrome (Q27674741)
- C536126: non-functioning pancreatic endocrine tumor (Q18557705), non-functioning pancreatic endocrine tumor (Q18557705)
- C536148: renal hypomagnesemia 5 with ocular involvement (Q32136710), renal hypomagnesemia 5 with ocular involvement (Q32136710)
- C536153: Palmoplantar keratoderma and spastic paraplegia (Q7128427), Palmoplantar keratoderma and spastic paraplegia (Q7128427)
- C536156: keratomalacia (Q379418), keratomalacia (Q379418)
- C536170: diastrophic dysplasia (Q3335666), diastrophic dysplasia (Q3335666)
- C536171: dicarboxylic aminoaciduria (Q16252204), dicarboxylic aminoaciduria (Q16252204)
- C536189: ectrodactyly–ectodermal dysplasia–cleft syndrome (Q5334319), ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 (Q28065588), ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 (Q28065589)
- C536194: type I Ehlers-Danlos syndrome (Q3508606), type I Ehlers-Danlos syndrome (Q3508606)
- C536196: type III Ehlers-Danlos syndrome (Q3508607), type III Ehlers-Danlos syndrome (Q3508607)
- C536201: Ehlers-Danlos syndrome progeroid type (Q18553484), Ehlers-Danlos syndrome progeroid type (Q18553484)
- C536209: congenital central hypoventilation syndrome (Q979129), Haddad syndrome (Q56014441)
- C536214: cold-induced sweating syndrome (Q3961672), cold-induced sweating syndrome (Q3961672), Crisponi syndrome (Q55998740)
- C536223: proximal symphalangism (Q18553473), proximal symphalangism (Q18553473)
- C536252: metaphyseal dysplasia (Q13566985), Metaphyseal dysplasia, Pyle type (Q22965556)
- C536259: Qazi Markouizos syndrome (Q7267327), Qazi Markouizos syndrome (Q7267327)
- C536260: Quebec platelet disorder (Q7269853), Quebec platelet disorder (Q7269853)
- C536294: Joubert syndrome 2 (Q32145701), Joubert syndrome 2 (Q32145701)
- C536295: Joubert syndrome 3 (Q32145844), Joubert syndrome 3 (Q32145844)
- C536296: Joubert syndrome with renal defect (Q32145858), Joubert syndrome with renal defect (Q32145858)
- C536332: polydactyly of a biphalangeal thumb (Q55781386), polydactyly of a biphalangeal thumb (Q55781386)
- C536350: mitochondrial DNA depletion syndrome 1 (Q6881876), mitochondrial DNA depletion syndrome 8a (Q26492820), oculogastrointestinal muscular dystrophy (Q55782392), mitochondrial DNA depletion syndrome 8b (Q63859996)
- C536357: hypochromic microcytic anemia (Q18553373), hypochromic microcytic anemia (Q18553373)
- C536364: hereditary neurocutaneous malformation (Q55780322), Hereditary neurocutaneous angioma (Q114044181)
- C536368: breast angiosarcoma (Q18556357), breast angiosarcoma (Q18556357)
- C536373: ankyloblepharon filiforme adnatum-cleft palate syndrome (Q55780326), ankyloblepharon filiforme adnatum-cleft palate syndrome (Q55780326)
- C536376: annular pancreas (Q1601921), annular pancreas (Q1601921)
- C536377: nonsyndromic congenital nail disorder 4 (Q18553374), anonychia congenita (Q22443772)
- C536380: Evans' syndrome (Q3109873), Evans' syndrome (Q3109873)
- C536390: Donnai-Barrow syndrome (Q3508634), Donnai-Barrow syndrome (Q3508634)
- C536394: neonatal hemochromatosis (Q1627324), neonatal hemochromatosis (Q1627324)
- C536416: Juvenile primary lateral sclerosis (Q6318969), Juvenile primary lateral sclerosis (Q6318969)
- C536480: urofacial syndrome (Q4352832), urofacial syndrome (Q4352832)
- C536482: bilateral renal aplasia (Q44743904), bilateral renal aplasia (Q44743904)
- C536498: tetra-amelia (Q2406697), tetra-amelia (Q2406697)
- C536510: thiamine-responsive megaloblastic anemia syndrome (Q2857909), thiamine-responsive megaloblastic anemia syndrome (Q2857909)
- C536522: X-linked myopathy with excessive autophagy (Q3456637), Autophagic vacuolar myopathy (Q63874868)
- C536524: Hypervalinemia (Q5958808), Hypervalinemia (Q5958808)
- C536525: Fetal valproate spectrum disorder (Q9081119), Fetal valproate spectrum disorder (Q9081119)
- C536531: Joubert syndrome with orofaciodigital defect (Q3508580), Joubert syndrome with orofaciodigital defect (Q3508580)
- C536534: VACTERL association (Q1755537), VACTERL association (Q1755537)
- C536535: venous aneurysm (Q5676399), Vein of Galen aneurysmal malformations (Q11766796), Vein of Galen aneurysmal malformations (Q11766796)
- C536561: trimethylaminuria (Q506433), trimethylaminuria (Q506433)
- C536562: triphalangeal thumb, Nonopposable (Q55781580), triphalangeal thumb, Nonopposable (Q55781580)
- C536575: Borjeson-Forssman-Lehmann syndrome (Q1019940), Borjeson-Forssman-Lehmann syndrome (Q1019940)
- C536591: alveolar echinococcosis (Q448768), alveolar echinococcosis (Q448768)
- C536605: Ambras type hypertrichosis universalis congenita (Q32146666), Ambras type hypertrichosis universalis congenita (Q32146666)
- C536607: Brody myopathy (Q4973199), Brody myopathy (Q4973199)
- C536614: neurogenic arthrogryposis multiplex congenita (Q708165), neurogenic arthrogryposis multiplex congenita (Q708165)
- C536624: scapuloperoneal myopathy (Q18966132), scapuloperoneal myopathy (Q18966132)
- C536629: Schimke immuno-osseous dysplasia (Q22938868), Schimke immuno-osseous dysplasia (Q22938868)
- C536637: schneckenbecken dysplasia (Q18553466), schneckenbecken dysplasia (Q18553466)
- C536648: Pendred syndrome (Q1707822), Pendred syndrome (Q1707822)
- C536650: penoscrotal transposition (Q55786963), penoscrotal transposition (Q55786963)
- C536652: pentosuria (Q1965082), pentosuria (Q1965082)
- C536662: peroxisomal acyl-CoA oxidase deficiency (Q18553481), peroxisomal acyl-CoA oxidase deficiency (Q18553481)
- C536664: Zellweger spectrum disorder (Q51250082), peroxisomal biogenesis disorder (Q61913385)
- C536665: persistent Müllerian duct syndrome (Q1958739), persistent Müllerian duct syndrome (Q1958739)
- C536677: snowflake vitreoretinal degeneration (Q55345684), snowflake vitreoretinal degeneration (Q55345684)
- C536697: WHIM syndrome (Q1258463), WHIM syndrome (Q1258463)
- C536716: pontocerebellar hypoplasia type 4 (Q18966155), pontocerebellar hypoplasia type 4 (Q18966155)
- C536717: Young-Simpson syndrome (Q8058422), Young-Simpson syndrome (Q8058422)
- C536719: Yunis-Varon syndrome (Q8061303), Yunis-Varon syndrome (Q8061303)
- C536736: tooth and nail syndrome (Q7824262), tooth and nail syndrome (Q7824262)
- C536739: Wolcott-Rallison syndrome (Q8029730), Wolcott-Rallison syndrome (Q8029730)
- C536741: Wolffian adnexal neoplasm (Q18557621), Wolffian adnexal neoplasm (Q18557621)
- C536742: Woodhouse–Sakati syndrome (Q8032762), Woodhouse–Sakati syndrome (Q8032762)
- C536762: xanthogranulomatous cholecystitis (Q18558215), xanthogranulomatous cholecystitis (Q18558215)
- C536773: secondary syphilis (Q18556216), secondary syphilis (Q18556216)
- C536778: systemic primary carnitine deficiency (Q3358135), systemic primary carnitine deficiency (Q3358135)
- C536787: Charlevoix-Saguenay spastic ataxia (Q2868786), Charlevoix-Saguenay spastic ataxia (Q2868786)
- C536788: Baller-Gerold syndrome (Q3508616), Baller-Gerold syndrome (Q3508616)
- C536808: chromosome 3q13.31 deletion syndrome (Q21154071), chromosome 3q13.31 deletion syndrome (Q21154071)
- C536821: juvenile macromastia (Q3144218), juvenile macromastia (Q3144218)
- C536833: glutaric aciduria type 1 (Q2140501), glutaric aciduria type 1 (Q2140501)
- C536841: familial encephalopathy with neuroserpin inclusion bodies (Q5432935), familial encephalopathy with neuroserpin inclusion bodies (Q5432935)
- C536842: primary polycythemia (Q18553930), primary polycythemia (Q18553930)
- C536868: hereditary spastic paraplegia 9A (Q32143434), autosomal dominant spastic paraplegia type 9 (Q55345928)
- C536903: thumb deformity (Q55781551), thumb deformity (Q55781551)
- C536914: Tuberculosis (possibly) (Q3493538), Tuberculosis (possibly) (Q3493538)
- C536920: restrictive dermopathy (Q7316329), restrictive dermopathy (Q7316329)
- C536924: tufted angioma (Q2849604), tufted angioma (Q2849604)
- C536932: arrhythmogenic right ventricular dysplasia 1 (Q2852241), arrhythmogenic right ventricular dysplasia 1 (Q2852241)
- C536937: ulnar-mammary syndrome (Q7879712), ulnar-mammary syndrome (Q7879712)
- C536943: tarsal-carpal coalition syndrome (Q18553474), calcaneonavicular coalition (Q18554815)
- C536946: Taurodontism (Q3496241), Taurodontism (Q3496241)
- C536962: Timothy syndrome (Q3508705), Timothy syndrome (Q3508705)
- C536990: Mowat-Wilson syndrome (Q2757585), Mowat-Wilson syndrome (Q2757585)
- C537015: KBG syndrome (Q1718432), KBG syndrome (Q1718432)
- C537047: Allan-Herndon-Dudley syndrome (Q4731121), Allan-Herndon-Dudley syndrome (Q4731121)
- C537060: congenital high-molecular-weight kininogen deficiency (Q55781893), congenital high-molecular-weight kininogen deficiency (Q55781893)
- C537080: baritosis (Q2906693), baritosis (Q2906693)
- C537081: Bowen-Conradi syndrome (Q18553398), Bowen-Conradi syndrome (Q18553398)
- C537089: brachydactyly type A2 (Q32145361), brachydactyly type A2 (Q32145361)
- C537092: brachydactyly type A6 (Q32145404), brachydactyly type A6 (Q32145404)
- C537093: brachydactyly type C (Q32145433), brachydactyly type C (Q32145433)
- C537131: orbital lymphoma (Q7100076), orbital lymphoma (Q7100076)
- C537133: orofaciodigital syndrome IV (Q19297696), orofaciodigital syndrome IV (Q19297696)
- C537152: renal hypomagnesemia 2 (Q32136745), renal hypomagnesemia 2 (Q32136745)
- C537157: hypoparathyroidism-retardation-dysmorphism syndrome (Q21124512), hypoparathyroidism-retardation-dysmorphism syndrome (Q21124512)
- C537162: pancreatoblastoma (Q7130423), pancreatoblastoma (Q7130423)
- C537177: Kufor-Rakeb syndrome (Q6441908), Kufor-Rakeb syndrome (Q6441908)
- C537185: Pierson syndrome (Q32136429), Pierson syndrome (Q32136429)
- C537202: spinocerebellar ataxia type 25 (Q21097770), spinocerebellar ataxia type 25 (Q21097770)
- C537203: spinocerebellar ataxia type 26 (Q21097771), spinocerebellar ataxia type 26 (Q21097771)
- C537206: spinocerebellar ataxia type 29 (Q21097773), spinocerebellar ataxia type 30 (Q21097774)
- C537207: Kniest dysplasia (Q6422092), Kniest dysplasia (Q6422092)
- C537236: sarcosinemia (Q7423635), sarcosinemia (Q7423635)
- C537240: progressive supranuclear palsy-parkinsonism syndrome (Q55345717), atypical progressive supranuclear palsy syndrome (Q55346109)
- C537248: hemochromatosis type 3 (Q3144936), hemochromatosis type 3 (Q3144936)
- C537249: Hemochromatosis type 4 (Q28448698), Hemochromatosis type 4 (Q28448698)
- C537300: Greig cephalopolysyndactyly syndrome (Q3508649), Greig cephalopolysyndactyly syndrome (Q3508649)
- C537333: syndromic X-linked intellectual disability Siderius type (Q28065616), syndromic X-linked intellectual disability Siderius type (Q28065616)
- C537340: Simpson-Golabi-Behmel syndrome (Q478891), Simpson-Golabi-Behmel syndrome (Q478891)
- C537345: sitosterolemia (Q1336034), sitosterolemia (Q1336034)
- C537375: Multifocal fibrosclerosis (Q6934687), Multifocal fibrosclerosis (Q6934687)
- C537403: Pitt-Hopkins syndrome (Q1164401), Pitt-Hopkins syndrome (Q1164401)
- C537409: Bruton-type agammaglobulinemia (Q283108), Bruton-type agammaglobulinemia (Q283108)
- C537411: choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome (Q55999785), choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome (Q55999785)
- C537421: neurofibromatosis type 6 (Q55780397), neurofibromatosis type 6 (Q55780397)
- C537436: Aromatase deficiency (Q4795506), aromatase excess syndrome (Q4795508)
- C537438: Arrhinia (Q3502509), Arrhinia (Q3502509)
- C537449: syndromic X-linked intellectual disability 7 (Q28065612), syndromic X-linked intellectual disability 7 (Q28065612)
- C537450: Christianson syndrome (Q28065629), Christianson syndrome (Q28065629)
- C537458: meralgia paraesthetica (Q991657), meralgia paraesthetica (Q991657)
- C537472: Miles-Carpenter syndrome (Q28065619), Miles-Carpenter syndrome (Q28065619)
- C537475: mitochondrial complex I deficiency (Q23542367), mitochondrial complex I deficiency (Q23542367)
- C537492: Stickler syndrome (Q2288646), Stickler syndrome type 1 (Q55345651)
- C537516: pleuropulmonary blastoma (Q7204815), pleuropulmonary blastoma (Q7204815)
- C537535: breast secretory carcinoma (Q18556551), breast secretory carcinoma (Q18556551)
- C537550: Microcoria (Q720101), Microcoria (Q720101)
- C537560: camptodactyly-arthropathy-coxa vara-pericarditis syndrome (Q5028560), camptodactyly-arthropathy-coxa vara-pericarditis syndrome (Q5028560)
- C537605: orbit rhabdomyosarcoma (Q18555355), orbit rhabdomyosarcoma (Q18555355)
- C537622: guanidinoacetate methyltransferase deficiency (Q5613758), guanidinoacetate methyltransferase deficiency (Q5613758)
- C537632: hypertelorism, microtia, facial clefting syndrome (Q18554800), hypertelorism, microtia, facial clefting syndrome (Q18554800)
- C537682: geniospasm (Q3816650), geniospasm (Q3816650)
- C537688: Joubert syndrome 5 (Q32145870), Joubert syndrome 5 (Q32145870)
- C537689: Joubert syndrome 6 (Q32145884), Joubert syndrome 6 (Q32145884)
- C537711: microcephaly lymphoedema chorioretinal dysplasia (Q6839330), microcephaly lymphoedema chorioretinal dysplasia (Q6839330)
- C537719: macrodactylia of toes (Q18966807), macrodactylia of toes (Q18966807)
- C537720: macrodactylia of fingers (Q18966921), macrodactylia of fingers (Q18966921)
- C537724: Lujan–Fryns syndrome (Q640836), syndromic X-linked intellectual disability 14 (Q28065625)
- C537734: Feingold syndrome (Q5441566), Feingold syndrome (Q5441566)
- C537743: Oguchi disease-1 (Q7080278), congenital stationary night blindness (Q18553290), hereditary night blindness (Q18557952), hereditary night blindness (Q18557952)
- C537745: pontocerebellar hypoplasia type 5 (Q18966156), pontocerebellar hypoplasia type 5 (Q18966156)
- C537746: omodysplasia (Q3352097), omodysplasia (Q3352097)
- C537750: renal oncocytoma (Q3882418), renal oncocytoma (Q3882418)
- C537799: gerodermia osteodysplastica (Q5552374), gerodermia osteodysplastica (Q5552374)
- C537833: benign concentric annular macular dystrophy (Q55781200), benign concentric annular macular dystrophy (Q55781200)
- C537848: Norman–Roberts syndrome (Q130555), Norman–Roberts syndrome (Q130555)
- C537849: Norrie disease (Q1415842), Norrie disease (Q1415842)
- C537860: occipital horn syndrome (Q3508729), occipital horn syndrome (Q3508729)
- C537907: hypoparathyroidism-deafness-renal disease syndrome (Q2027515), hypoparathyroidism-deafness-renal disease syndrome (Q2027515)
- C537908: Barber-Say syndrome (Q18616565), Barber-Say syndrome (Q18616565)
- C537914: chondrodysplasia Blomstrand type (Q5104520), chondrodysplasia Blomstrand type (Q5104520)
- C537931: du Pan syndrome (Q2718677), du Pan syndrome (Q2718677)
- C537935: lattice corneal dystrophy (Q4394144), lattice corneal dystrophy (Q4394144)
- C537943: CEDNIK syndrome (Q5064098), CEDNIK syndrome (Q5064098)
- C537955: cerulean cataract (Q56014422), cerulean cataract (Q56014422)
- C537963: calvarial hyperostosis (Q1051786), calvarial hyperostosis (Q1051786)
- C537968: idiopathic camptocormia (Q55785363), idiopathic camptocormia (Q55785363)
- C537975: camptodactyly-tall stature-scoliosis-hearing loss syndrome (Q50349826), camptodactyly-tall stature-scoliosis-hearing loss syndrome (Q50349826)
- C538069: upper limb mesomelic dysplasia (Q20828760), upper limb mesomelic dysplasia (Q20828760)
- C538090: surface epithelial-stromal tumor (Q7645976), ovarian carcinoma (Q18556145)
- C538103: palindromic rheumatism (Q3495854), palindromic rheumatism (Q3495854)
- C538115: heterochromia iridum (Q461486), heterochromia iridum (Q461486)
- C538125: alopecia macular degeneration growth retardation syndrome (Q56014555), Kuster Majewski Hammerstein syndrome (Q56014598)
- C538137: hereditary hyperferritinemia with congenital cataracts (Q55782879), hereditary hyperferritinemia with congenital cataracts (Q55782879)
- C538141: isolated sulfite oxidase deficiency (Q55782334), isolated sulfite oxidase deficiency (Q55782334)
- C538153: synpolydactyly (Q7662637), synpolydactyly (Q7662637)
- C538159: McKusick–Kaufman syndrome (Q3508674), McKusick–Kaufman syndrome (Q3508674)
- C538179: acrodysostosis (Q4357287), acrodysostosis (Q4357287)
- C538182: acrofacial dysostosis, Catania type (Q21154052), acrofacial dysostosis, Catania type (Q21154052)
- C538183: acrofacial dysostosis Rodriguez type (Q21154051), acrofacial dysostosis Rodriguez type (Q21154051)
- C538185: acrofacial dysostosis, Patagonia type (Q21154053), acrofacial dysostosis, Patagonia type (Q21154053)
- C538186: acrofrontofacionasal dysostosis (Q4675773), acrofrontofacionasal dysostosis (Q4675773)
- C538187: Acrogeria (Q4675775), metageria (Q6822520)
- C538189: Fuhrmann syndrome (Q18411838), Fuhrmann syndrome (Q18411838)
- C538191: fumarase deficiency (Q2823337), fumarase deficiency (Q2823337)
- C538208: Familial British dementia (Q5432926), ABri amyloidosis (Q50349602)
- C538228: adenine phosphoribosyltransferase deficiency (Q4682223), adenine phosphoribosyltransferase deficiency (Q4682223)
- C538259: atransferrinemia (Q1437472), atransferrinemia (Q1437472)
- C538265: Attenuated familial adenomatous polyposis (Q4818237), Attenuated familial adenomatous polyposis (Q4818237)
- C538282: early-onset anterior polar cataract (Q56014421), early-onset anterior polar cataract (Q56014421)
- C538309: chromosome 18p deletion syndrome (Q4557543), chromosome 18p deletion syndrome (Q4557543)
- C538320: histidinemia (Q725845), histidinemia (Q725845)
- C538321: histidinuria due to a renal tubular defect (Q55781937), histidinuria due to a renal tubular defect (Q55781937)
- C538336: Nance-Horan syndrome (Q17144153), Nance-Horan syndrome (Q17144153)
- C538343: Native American myopathy (Q11781607), Native American myopathy (Q11781607)
- C538354: nose, anomalous shape of (Q55781290), nose, anomalous shape of (Q55781290)
- C538361: reticular dysgenesis (Q7316718), reticular dysgenesis (Q7316718)
- C538377: Hyperkeratosis lenticularis perstans (Q43185102), Hyperkeratosis lenticularis perstans (Q43185102)
- C538388: X-linked hypertrichosis (Q8041556), X-linked congenital generalized hypertrichosis (Q55345748)
- C538390: isolated anterior cervical hypertrichosis (Q55782854), isolated anterior cervical hypertrichosis (Q55782854)
- C538421: neurodegeneration with brain iron accumulation (Q16892735), neurodegeneration with brain iron accumulation (Q16892735)
- C538616: paramyotonia congenita (Q493103), paramyotonia congenita (Q493103)
- C538618: paroxysmal cold hemoglobinuria (Q734042), paroxysmal cold hemoglobinuria (Q734042), Donath–Landsteiner hemolytic anemia (Q65120981)
- C548009: Sinus venosus atrial septal defect (Q7525206), Sinus venosus atrial septal defect (Q7525206)
- C548072: pontocerebellar hypoplasia type 3 (Q18966154), pontocerebellar hypoplasia type 3 (Q18966154)
- C548074: pontocerebellar hypoplasia type 6 (Q18966158), pontocerebellar hypoplasia type 6 (Q18966158)
- C548080: adult-onset basal ganglia disease (Q3338664), adult-onset basal ganglia disease (Q3338664)
- C549759: prostate malignant phyllodes tumor (Q18553832), prostate malignant phyllodes tumor (Q18553832)
- C557674: EAST syndrome (Q5322531), EAST syndrome (Q5322531)
- C557817: orofaciodigital syndrome III (Q7635034), orofaciodigital syndrome III (Q7635034)
- C557818: orofaciodigital syndrome IX (Q21154050), orofaciodigital syndrome IX (Q21154050)
- C562378: Congenital hepatic fibrosis (Q1395683), Congenital hepatic fibrosis (Q1395683)
- C562379: dermatosis papulosa nigra (Q5262715), dermatosis papulosa nigra (Q5262715)
- C562391: Ovarian fibroma (Q7113247), Ovarian fibroma (Q7113247)
- C562397: imperforate hymen (Q2065620), imperforate hymen (Q2065620)
- C562399: band keratopathy (Q4854239), band keratopathy (Q4854239)
- C562400: hyperpigmentation of eyelid (Q18553782), hyperpigmentation of eyelid (Q18553782)
- C562405: pulmonary alveolar microlithiasis (Q5560415), pulmonary alveolar microlithiasis (Q5560415)
- C562406: bladder diverticulum (Q4161230), bladder diverticulum (Q4161230)
- C562408: radioulnar synostosis (Q16892594), radioulnar synostosis (Q16892594)
- C562441: multiple intestinal atresia (Q18554801), multiple intestinal atresia (Q18554801)
- C562456: Intestinal malrotation (Q448023), Intestinal malrotation (Q448023)
- C562463: pancreatic carcinoma (Q18556536), pancreatic carcinoma (Q18556536)
- C562464: stomach polyp (Q55781391), stomach polyp (Q55781391)
- C562465: specific phobia (Q2015728), specific phobia (Q2015728)
- C562470: desquamative interstitial pneumonia (Q5265029), desquamative interstitial pneumonia (Q5265029)
- C562485: pili torti (Q7193994), pili torti (Q7193994)
- C562546: Megalodactyly (Q55781215), Megalodactyly (Q55781215)
- C562563: microcolon (Q55782106), microcolon (Q55782106)
- C562565: uterine malformation (Q2034363), uterine malformation (Q2034363)
- C562584: xanthinuria (Q1476965), xanthinuria (Q1476965)
- C562657: sepiapterin reductase deficiency (Q17156923), sepiapterin reductase deficiency (Q17156923)
- C562669: hydroxyprolinemia (Q55781950), hydroxyprolinemia (Q55781950)
- C562684: hyper-beta-alaninemia (Q55781951), hyper-beta-alaninemia (Q55781951)
- C562687: lysinuric protein intolerance (Q3153671), lysinuric protein intolerance (Q3153671)
- C562732: familial multinodular goiter (Q55950225), familial multinodular goiter (Q55950225)
- C562745: posterior polymorphous corneal dystrophy (Q4183965), posterior polymorphous corneal dystrophy (Q4183965)
- C562753: nasal bones, absence of (Q55781269), nasal bones, absence of (Q55781269)
- C562829: megalocornea (Q4286595), megalocornea (Q4286595)
- C562830: patent ductus venosus (Q55783186), patent ductus venosus (Q55783186)
- C562869: secretory component deficiency (Q55998738), secretory component deficiency (Q55998738)
- C562924: Dowling-Degos disease (Q7316720), reticulate acropigmentation of Kitamura (Q7316721)
- C562932: muscular dystrophy, Scapulohumeral (Q55999599), muscular dystrophy, Scapulohumeral (Q55999599)
- C562941: telecanthus (Q1503008), telecanthus (Q1503008)
- C562943: choroid plexus carcinoma (Q1524940), choroid plexus carcinoma (Q1524940)
- C563004: hereditary pyropoikilocytosis (Q5737872), hereditary pyropoikilocytosis (Q5737872)
- C563009: glycinuria (Q1532449), glycinuria (Q1532449)
- C563010: hereditary neutrophilia (Q30989899), hereditary neutrophilia (Q30989899)
- C563015: preauricular fistulae, congenital (Q55780525), preauricular fistulae, congenital (Q55780525)
- C563020: anal canal carcinoma (Q2652259), cloacogenic carcinoma (Q18557499)
- C563030: Heinz body anemia (Q55780855), Heinz body anemia (Q55780855)
- C563037: arthritis, Sacroiliac (Q55780347), arthritis, Sacroiliac (Q55780347)
- C563047: cleft palate-lateral synechia syndrome (Q55373613), cleft palate-lateral synechia syndrome (Q55373613)
- C563104: orofaciodigital syndrome VII (Q21124535), orofaciodigital syndrome VII (Q21124535)
- C563120: Scott syndrome (Q7437571), Scott syndrome (Q7437571)
- C563156: Brunner Syndrome (Q4979092), Brunner Syndrome (Q4979092)
- C563160: odontoonychodermal syndrome (Q17148148), odontoonychodermal syndrome (Q17148148)
- C563162: familial calcium pyrophosphate deposition (Q55950198), calcium pyrophosphate dihydrate crystal deposition disease (Q64348505)
- C563177: glucocorticoid-remediable aldosteronism (Q17149181), glucocorticoid-remediable aldosteronism (Q17149181)
- C563187: Carpenter syndrome (Q2272470), Carpenter syndrome (Q2272470)
- C563195: extraskeletal myxoid chondrosarcoma (Q18557267), extraskeletal myxoid chondrosarcoma (Q18557267)
- C563237: cystic disease of lung (Q55781791), cystic disease of lung (Q55781791)
- C563256: fleck corneal dystrophy (Q4237691), fleck corneal dystrophy (Q4237691)
- C563333: early-onset nuclear cataract (Q56014424), early-onset nuclear cataract (Q56014424)
- C563363: Cayman type cerebellar ataxia (Q28024512), Cayman type cerebellar ataxia (Q28024512)
- C563487: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures (Q27674940), osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures (Q27674940)
- C563491: orofaciodigital syndrome X (Q21154048), orofaciodigital syndrome X (Q21154048)
- C563641: glycogen storage disease due to lactate dehydrogenase H-subunit deficiency (Q55784190), glycogen storage disease due to lactate dehydrogenase H-subunit deficiency (Q55784190)
- C563702: SPOAN syndrome (Q10376449), SPOAN syndrome (Q10376449)
- C563835: drug metabolism, poor, Cyp2D6-related (Q55783616), Poor drug metabolism (Q109905255)
- C564017: lethal infantile mitochondrial myopathy (Q55782728), lethal infantile mitochondrial myopathy (Q55782728)
- C564018: myoglobinuria, recurrent (Q55999588), myoglobinuria, recurrent (Q55999588)
- C564168: hyperostosis cranialis interna (Q55781050), hyperostosis cranialis interna (Q55781050)
- C564178: congenital Horner syndrome (Q55950228), congenital Horner syndrome (Q55950228)
- C564243: bradyopsia (Q10434599), bradyopsia (Q10434599)
- C564296: hereditary sensory neuropathy type 1B (Q50349714), hereditary sensory neuropathy type 1B (Q50349714)
- C564334: acrocapitofemoral dysplasia (Q18553334), acrocapitofemoral dysplasia (Q18553334)
- C564525: GATA 1 related cytopenia (Q3009546), thrombocytopenia with congenital dyserythropoietic anemia (Q56014250)
- C564738: pontocerebellar hypoplasia type 2A (Q2195280), pontocerebellar hypoplasia type 2A (Q2195280)
- C564815: spastic ataxia (Q21082498), spastic ataxia (Q21082498)
- C564835: enhanced S-cone syndrome (Q30989221), enhanced S-cone syndrome (Q30989221)
- C564838: autosomal recessive pericentral pigmentary retinopathy (Q27677820), autosomal recessive pericentral pigmentary retinopathy (Q27677820)
- C565007: Congenital fourth nerve palsy (Q5160431), familial congenital palsy of trochlear nerve (Q55780755)
- C565029: facial hypertrichosis (Q55780589), facial hypertrichosis (Q55780589)
- C565089: calvarial doughnut lesions-bone fragility syndrome (Q55780509), calvarial doughnut lesions-bone fragility syndrome (Q55780509)
- C565153: idiopathic spontaneous coronary artery dissection (Q55780447), idiopathic spontaneous coronary artery dissection (Q55780447)
- C565193: brachydactyly-syndactyly syndrome (Q18553404), brachydactyly-syndactyly syndrome (Q18553404)
- C565209: sclerocornea (Q7434154), sclerocornea (Q7434154)
- C565409: mast syndrome (Q18966121), mast syndrome (Q18966121)
- C565535: granulocytopenia with immunoglobulin abnormality (Q55781920), immunodeficiency 59 (Q102294307)
- C565637: deafness, sensorineural, autosomal-mitochondrial type (Q55781811), autosomal-mitochondrial sensorineural deafness (Q102293457)
- C565942: arterial tortuosity syndrome (Q4216194), arterial tortuosity syndrome (Q4216194)
- C565955: amyotrophic lateral sclerosis with polyglucosan bodies (Q9347519), amyotrophic lateral sclerosis with polyglucosan bodies (Q9347519)
- C566099: distal symphalangism (Q55781526), distal symphalangism (Q55781526)
- C566108: Stormorken syndrome (Q21124520), Stormorken syndrome (Q21124520)
- C566140: cervical vertebral dysplasia (Q55780412), cervical vertebral dysplasia (Q55780412)
- C566323: hereditary papulotranslucent acrokeratoderma (Q21124525), hereditary papulotranslucent acrokeratoderma (Q21124525)
- C566340: congenital bile acid synthesis defect 3 (Q42863603), congenital bile acid synthesis defect 3 (Q42863603)
- C566345: acromelic frontonasal dysostosis (Q21124508), acromelic frontonasal dysostosis (Q21124508)
- C566358: xanthinuria (Q1476965), xanthinuria (Q1476965)
- C566452: congenital stromal corneal dystrophy (Q4127187), congenital stromal corneal dystrophy (Q4127187)
- C566618: PHGDH deficiency, infantile/juvenile form (Q18553426), PHGDH deficiency, infantile/juvenile form (Q18553426)
- C566632: preaxial Hallucal polydactyly (Q55999634), preaxial Hallucal polydactyly (Q55999634)
- C566640: platelet-activating factor acetylhydrolase deficiency (Q55784285), platelet-activating factor acetylhydrolase deficiency (Q55784285)
- C566670: spinal muscular atrophy, segmental (Q55781491), spinal muscular atrophy, segmental (Q55781491)
- C566703: familial congenital nasolacrimal duct obstruction (Q55950244), familial congenital nasolacrimal duct obstruction (Q55950244)
- C566728: radial Heads, posterior dislocation of (Q55781437), radial Heads, posterior dislocation of (Q55781437)
- C566738: antecubital pterygium syndrome (Q29982055), antecubital pterygium syndrome (Q29982055)
- C566800: platelet aggregation, spontaneous (Q55781376), platelet aggregation, spontaneous (Q55781376)
- C566815: Char syndrome (Q2411095), Char syndrome (Q2411095)
- C566823: Parkinson plus syndrome (Q2915552), autosomal dominant Parkinson disease 1 (Q21154040)
- C566826: parietal foramina (Q18987133), parietal foramina (Q18987133)
- C566897: Ligneous conjunctivitis (Q6546687), plasminogen deficiency type I (Q97109018)
- C566916: Joubert syndrome 7 (Q32145897), Joubert syndrome 7 (Q32145897)
- C566917: Glycogen storage disease type 0 (Q5572606), glycogen storage disease type 0B (Q109676512)
- C567043: XFE progeroid syndrome (Q26492799), XFE progeroid syndrome (Q26492799)
- C567090: familial cold autoinflammatory syndrome 2 (Q30990079), familial cold autoinflammatory syndrome 2 (Q30990079)
- C567182: distal 10q deletion syndrome (Q21154055), distal 10q deletion syndrome (Q21154055)
- C567184: chromosome 3q29 microdeletion syndrome (Q4636618), chromosome 3q29 microdeletion syndrome (Q4636618)
- C567224: chromosome 22q11.2 microduplication syndrome (Q4631454), chromosome 22q11.2 microduplication syndrome (Q4631454)
- C567232: chromosome 15q26-qter deletion syndrome (Q21154060), chromosome 15q26-qter deletion syndrome (Q21154060)
- C567324: pontocerebellar hypoplasia type 2C (Q18966150), pontocerebellar hypoplasia type 2C (Q18966150)
- C567325: pontocerebellar hypoplasia type 2B (Q18966149), pontocerebellar hypoplasia type 2B (Q18966149)
- C567357: Birk-Barel syndrome (Q18553391), Birk-Barel syndrome (Q18553391)
- C567358: Joubert syndrome 8 (Q32145912), Joubert syndrome 8 (Q32145912)
- C567364: Joubert syndrome 9 (Q32145925), Joubert syndrome 9 (Q32145925)
- C567416: oculoauricular syndrome (Q22030614), oculoauricular syndrome (Q22030614)
- C567439: chromosome 15q13.3 microdeletion syndrome (Q21154058), chromosome 15q13.3 microdeletion syndrome (Q21154058)
- C567453: RIDDLE syndrome (Q30989182), RIDDLE syndrome (Q30989182)
- C567484: Christianson syndrome (Q28065629), Christianson syndrome (Q28065629)
- C567518: bestrophinopathy (Q18553385), bestrophinopathy (Q18553385)
- C567546: posterior amorphous corneal dystrophy (Q4183962), posterior amorphous corneal dystrophy (Q4183962)
- C567547: subepithelial mucinous corneal dystrophy (Q4445097), subepithelial mucinous corneal dystrophy (Q4445097)
- C567582: Joubert syndrome 10 (Q32145593), Joubert syndrome 10 (Q32145593)
- C567587: X-linked endothelial corneal dystrophy (Q4053279), X-linked endothelial corneal dystrophy (Q4053279)
- C567588: Lisch epithelial corneal dystrophy (Q4162391), Lisch epithelial corneal dystrophy (Q4162391)
- C567626: chromosome 3q29 microduplication syndrome (Q21505486), chromosome 3q29 microduplication syndrome (Q21505486)
- C567664: omodysplasia (Q3352097), omodysplasia (Q3352097)
- C567688: factor Xiii, b subunit, deficiency of (Q56002515), factor Xiii, b subunit, deficiency of (Q56002515)
- C567691: factor Xiii, a subunit, deficiency of (Q56002513), factor Xiii, a subunit, deficiency of (Q56002513)
- C567791: cerebral folate receptor alpha deficiency (Q18553424), cerebral folate receptor alpha deficiency (Q18553424)
- C567810: chromosome 19q13.11 deletion syndrome (Q21154066), chromosome 19q13.11 deletion syndrome (Q21154066)
- C567844: autosomal recessive Parkinson disease 14 (Q32136892), autosomal recessive Parkinson disease 14 (Q32136892)
- C571911: gastrointestinal anthrax (Q18554504), gastrointestinal anthrax (Q18554504)
- C572568: complement factor I deficiency (Q18553256), complement factor I deficiency (Q18553256)
- C574275: ectrodactyly (Q650026), split hand-foot malformation (Q30989072), split hand-foot malformation 4 (Q30989218), split hand-foot malformation 5 (Q30989219), split hand-foot malformation 3 (Q42863539), split hand-foot malformation 2 (Q42863541)
- C579867: 3-methylglutaconic aciduria (Q3598794), 3-methylglutaconic aciduria (Q3598794)
- C580003: panhypopituitarism (Q1495797), panhypopituitarism (Q1495797)
- C580039: mitochondrial DNA depletion syndrome 3 (Q26492815), mitochondrial DNA depletion syndrome, hepatocerebral form (Q55786491)
- C580047: DMD-related dilated cardiomyopathy (Q26492779), DMD-related dilated cardiomyopathy (Q26492779)
- C580065: episodic ataxia (Q21503282), episodic ataxia (Q21503282)
- C580174: Huntington's disease-like syndrome (Q24977062), Huntington disease and related disorders (Q55345637)
- C580316: myofibrillar myopathy (Q23893414), myofibrillar myopathy (Q23893414)
- C580383: non-syndromic pontocerebellar hypoplasia (Q1698867), non-syndromic pontocerebellar hypoplasia (Q1698867)
- C580473: mitochondrial DNA depletion syndrome 5 (Q26492817), mitochondrial DNA depletion syndrome 9 (Q26492821)
- D000071243: Zika fever (Q8071861), Zika virus infection (Q27043680)
- D000072339: LGBTQ (Q17884), LGBTQ (Q17884), women who have sex with women (Q210604)
- D000095882: telepsychology (Q48775278), mental health teletherapy (Q124256271)
- D007939: L1210 (Q6456824), L1210 (Q6456824)
- D008598: menstruation (Q12171), menstruation (Q17155666)
- D008599: menstrual disorder (Q2137327), polymenorrhea (Q3395659)
- D009558: nipple (Q188641), areola (Q843533)
- D010064: nidation (Q266500), embryo implantation (Q14852002)
- D011372: progestogen (Q45071), progestins (Q50430133)
- D011926: Rauvolfia (Q1145247), Rauwolfia (Q87243563)
- D012013: reference work (Q13136), Q130364395
- D018486: twin study (Q244775), twin study (Q131366935)
- D019152: culdocentesis (Q2234987), peritoneocentesis (Q4254147)
- D020187: REM sleep behavior disorder (Q2103933), REM sleep behavior disorder (Q2103933)
- D020498: programmed instruction (Q3321698), programmed instruction (Q131394321)
- D030361: human papillomavirus infection (Q184627), Papillomavirus infections (Q104205912)
- D045325: HCT 116 (Q28334584), HCT 116 (Q28334584)
- D051238: vasoactive intestinal peptide receptor 1 (Q21135903), GPCR, family 2, vasoactive intestinal peptide receptor 1 (Q24786540)
- D052576: menstrual cup (Q216997), feminine hygiene product (Q3083164)
- D057220: health literacy (Q3097973), health literacy (Q3097973)
- D057809: HEK293 (Q489618), HEK293 (Q489618), HEK293T (Q27546876)
- D065886: neurodevelopmental disorder (Q3450985), Faundes-Banka syndrome (Q124583039)
"Single value" violations
[edit]Violations count: 449
- chronic thyroiditis (Q11094): D050031, C20.111.809.500
- LGBTQ (Q17884): D000072339, D000072339
- Norman–Roberts syndrome (Q130555): C537848, C537848
- Sinapis (Q150072): D031226, B01.875.800.575.912.250.157.811
- Antirrhinum (Q157646): D032161, B01.875.800.575.912.250.583.700.067
- Holt-Oram syndrome (Q182005): C535326, C535326
- 4-hydroxy-2-nonenal (Q229982): C027576, C027576
- Bruton-type agammaglobulinemia (Q283108): C537409, C537409
- Aagenaes syndrome (Q300801): C535330, C535330
- keratomalacia (Q379418): C536156, C536156
- phosphatidylinositol 3-kinases (Q423725): D019869, D12.776.476.556
- Intestinal malrotation (Q448023): C562456, C562456
- alveolar echinococcosis (Q448768): C536591, C536591
- heterochromia iridum (Q461486): C538115, C538115
- Simpson-Golabi-Behmel syndrome (Q478891): C537340, C537340
- HEK293 (Q489618): D057809, D057809
- paramyotonia congenita (Q493103): C538616, C538616
- trimethylaminuria (Q506433): C536561, C536561
- Dubowitz syndrome (Q574741): C535718, C535718
- camptodactyly (Q614013): C567780, C536852
- lactocele (Q686131): C535998, C535998
- pseudoachondroplasia (Q693578): C535819, C535819
- neurogenic arthrogryposis multiplex congenita (Q708165): C536614, C536614
- Datura metel (Q715019): D058530, B01.875.800.575.912.250.908.500.188.550
- Microcoria (Q720101): C537550, C537550
- histidinemia (Q725845): C538320, C538320
- paroxysmal cold hemoglobinuria (Q734042): C538618, C538618
- meralgia paraesthetica (Q991657): C537458, C537458
- Borjeson-Forssman-Lehmann syndrome (Q1019940): C536575, C536575
- calvarial hyperostosis (Q1051786): C537963, C537963
- Pitt-Hopkins syndrome (Q1164401): C537403, C537403
- dopamine beta-hydroxylase deficiency (Q1242612): C535600, C535600
- WHIM syndrome (Q1258463): C536697, C536697
- Dyggve–Melchior–Clausen syndrome (Q1268671): C535726, C535726
- oculocutaneous albinism type 3 (Q1327842): C537189, C537731
- sitosterolemia (Q1336034): C537345, C537345
- Congenital hepatic fibrosis (Q1395683): C562378, C562378
- Norrie disease (Q1415842): C537849, C537849
- atransferrinemia (Q1437472): C538259, C538259
- jaw-winking syndrome (Q1476789): C535908, C535908
- xanthinuria (Q1476965): C562584, C566358, C566358, C562584
- panhypopituitarism (Q1495797): C580003, C580003
- telecanthus (Q1503008): C562941, C562941
- choroid plexus carcinoma (Q1524940): C562943, C562943
- glycinuria (Q1532449): C563009, C563009
- annular pancreas (Q1601921): C536376, C536376
- neonatal hemochromatosis (Q1627324): C536394, C536394
- Marie Unna hereditary hypotrichosis (Q1641486): C535912, C535912
- non-syndromic pontocerebellar hypoplasia (Q1698867): C580383, C580383
- Pendred syndrome (Q1707822): C536648, C536648
- KBG syndrome (Q1718432): C537015, C537015
- VACTERL association (Q1755537): C536534, C536495, C536534
- Sprengel's deformity (Q1850576): C535802, C535802
- persistent Müllerian duct syndrome (Q1958739): C536665, C536665
- pentosuria (Q1965082): C536652, C536652
- specific phobia (Q2015728): C562465, C562465
- hypoparathyroidism-deafness-renal disease syndrome (Q2027515): C537907, C537907
- Van der Woude syndrome (Q2033532): C536528, C563529
- uterine malformation (Q2034363): C562565, C562565
- imperforate hymen (Q2065620): C562397, C562397
- REM sleep behavior disorder (Q2103933): D020187, D020187
- glutaric aciduria type 1 (Q2140501): C536833, C536833
- familial nephrotic syndrome (Q2160802): C535761, C535761
- pontocerebellar hypoplasia type 2A (Q2195280): C564738, C564738
- Marshall–Smith syndrome (Q2195906): C536026, C536026
- Carpenter syndrome (Q2272470): C563187, C563187
- tetra-amelia (Q2406697): C536498, C536498
- Char syndrome (Q2411095): C566815, C566815
- Wagner's disease (Q2470609): C536075, C536075
- du Pan syndrome (Q2718677): C537931, C537931
- Mowat-Wilson syndrome (Q2757585): C536990, C536990
- chronic recurrent multifocal osteomyelitis (Q2787011): C535456, C535456
- succinic semialdehyde dehydrogenase deficiency (Q2823333): C535803, C535803
- fumarase deficiency (Q2823337): C538191, C538191
- tufted angioma (Q2849604): C536924, C536924
- arrhythmogenic right ventricular dysplasia 1 (Q2852241): C536932, C536932
- thiamine-responsive megaloblastic anemia syndrome (Q2857909): C536510, C536510
- Charlevoix-Saguenay spastic ataxia (Q2868786): C536787, C536787
- familial isolated deficiency of vitamin E (Q2868792): C535393, C535393
- gastric lymphoma (Q2897350): C535648, C535648
- baritosis (Q2906693): C537080, C537080
- Ring chromosome 20 syndrome (Q2966733): C580424, C535369
- health literacy (Q3097973): D057220, D057220
- Evans' syndrome (Q3109873): C536380, C536380
- juvenile macromastia (Q3144218): C536821, C536821
- hemochromatosis type 3 (Q3144936): C537248, C537248
- lysinuric protein intolerance (Q3153671): C562687, C562687
- chromosome 1p36 deletion syndrome (Q3297103): C535362, C535362
- 3-M syndrome (Q3335660): C535725, C535314
- hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Q3335662): C537299, C535858
- diastrophic dysplasia (Q3335666): C536170, C536170
- adult-onset basal ganglia disease (Q3338664): C548080, C548080
- omodysplasia (Q3352097): C567664, C537746, C567664, C537746
- systemic primary carnitine deficiency (Q3358135): C536778, C536778
- Tuberculosis (possibly) (Q3493538): C536914, C536914
- palindromic rheumatism (Q3495854): C538103, C538103
- Taurodontism (Q3496241): C536946, C536946
- Arrhinia (Q3502509): C537438, C537438
- Joubert syndrome with orofaciodigital defect (Q3508580): C536531, C536531
- ablepharon macrostomia syndrome (Q3508585): C535557, C535557
- type I Ehlers-Danlos syndrome (Q3508606): C536194, C536194
- type III Ehlers-Danlos syndrome (Q3508607): C536196, C536196
- Baller-Gerold syndrome (Q3508616): C536788, C536788
- Donnai-Barrow syndrome (Q3508634): C536390, C536390
- Greig cephalopolysyndactyly syndrome (Q3508649): C537300, C537300
- McKusick–Kaufman syndrome (Q3508674): C538159, C538159
- deafness dystonia syndrome (Q3508677): C535808, C535808
- Timothy syndrome (Q3508705): C536962, C536962
- occipital horn syndrome (Q3508729): C537860, C537860
- Leiner's disease (Q3591492): C535512, C535512
- 3-methylglutaconic aciduria (Q3598794): C579867, C579867
- adrenocorticotropic hormone deficiency (Q3704730): C535668, C535668
- geniospasm (Q3816650): C537682, C537682
- renal oncocytoma (Q3882418): C537750, C537750
- cold-induced sweating syndrome (Q3961672): C536214, C536214
- X-linked endothelial corneal dystrophy (Q4053279): C567587, C567587
- congenital stromal corneal dystrophy (Q4127187): C566452, C566452
- bladder diverticulum (Q4161230): C562406, C562406
- epithelial basement membrane dystrophy (Q4162388): C535477, C535477
- Thiel-Behnke corneal dystrophy (Q4162389): C535942, C535942
- Reis-Bücklers corneal dystrophy (Q4162390): C535476, C535476
- Lisch epithelial corneal dystrophy (Q4162391): C567588, C567588
- Schnyder corneal dystrophy (Q4162393): C535475, C535475
- gelatinous drop-like corneal dystrophy (Q4178686): C535480, C535480
- posterior amorphous corneal dystrophy (Q4183962): C567546, C567546
- posterior polymorphous corneal dystrophy (Q4183965): C562745, C562745
- arterial tortuosity syndrome (Q4216194): C565942, C565942
- fleck corneal dystrophy (Q4237691): C563256, C563256
- megalocornea (Q4286595): C562829, C562829
- Weaver syndrome (Q4348144): C562443, C536687
- urofacial syndrome (Q4352832): C536480, C536480
- acrodysostosis (Q4357287): C538179, C538179
- lattice corneal dystrophy (Q4394144): C537935, C537935
- subepithelial mucinous corneal dystrophy (Q4445097): C567547, C567547
- Hashimoto's encephalopathy (Q4532132): C535841, C535841
- chromosome 18p deletion syndrome (Q4557543): C538309, C538309
- chromosome 22q11.2 microduplication syndrome (Q4631454): C567224, C567224
- chromosome 3q29 microdeletion syndrome (Q4636618): C567184, C567184
- Achard syndrome (Q4673499): C536012, C536012
- acrofrontofacionasal dysostosis (Q4675773): C538186, C538186
- acromicric dysplasia (Q4676182): C535662, C535662
- adenine phosphoribosyltransferase deficiency (Q4682223): C538228, C538228
- Allan-Herndon-Dudley syndrome (Q4731121): C537047, C537047
- aniridia ataxia renal agenesis psychomotor retardation (Q4765258): C000598722, C536371
- aromatase excess syndrome (Q4795508): C537436, C000591739
- Asymmetric crying facies (Q4812072): C535349, C535349
- Attenuated familial adenomatous polyposis (Q4818237): C538265, C538265
- band keratopathy (Q4854239): C562399, C562399
- beta-ketothiolase deficiency (Q4897218): C535818, C535434, C535818
- Binder syndrome (Q4913982): C536036, C536036
- Brody myopathy (Q4973199): C536607, C536607
- Brunner Syndrome (Q4979092): C563156, C563156
- camptodactyly-arthropathy-coxa vara-pericarditis syndrome (Q5028560): C537560, C537560
- Cantú syndrome (Q5034093): C535572, C535572
- CEDNIK syndrome (Q5064098): C537943, C537943
- Chilblain lupus (Q5097618): C535924, C535924
- chondrodysplasia Blomstrand type (Q5104520): C537914, C537914
- colpocephaly (Q5149292): C535973, C535973
- congenital amegakaryocytic thrombocytopenia (Q5160405): C535982, C535982
- Corneodermatoosseous syndrome (Q5171588): C536444, C537488
- cystathioninuria (Q5201186): C535408, C535408
- Daentl Towsend Siegel syndrome (Q5208264): C535768, C535768
- dermatosis papulosa nigra (Q5262715): C562379, C562379
- desquamative interstitial pneumonia (Q5265029): C562470, C562470
- dyschromatosis universalis hereditaria (Q5319369): C535730, C535730
- EAST syndrome (Q5322531): C557674, C557674
- erythema elevatum diutinum (Q5396391): C535509, C535509
- spinocerebellar ataxia type 34 (Q5396477): C535514, C535738
- familial encephalopathy with neuroserpin inclusion bodies (Q5432935): C536841, C536841
- Feingold syndrome (Q5441566): C537734, C537734
- gerodermia osteodysplastica (Q5552374): C537799, C537799
- pulmonary alveolar microlithiasis (Q5560415): C562405, C562405
- guanidinoacetate methyltransferase deficiency (Q5613758): C537622, C537622
- Harding ataxia (Q5656137): C535633, C535633
- hereditary pyropoikilocytosis (Q5737872): C563004, C563004
- hydrolethalus syndrome (Q5955105): C536079, C536079
- Hypervalinemia (Q5958808): C536524, C536524
- Juvenile primary lateral sclerosis (Q6318969): C536416, C536416
- Kniest dysplasia (Q6422092): C537207, C537207
- Kufor-Rakeb syndrome (Q6441908): C537177, C537177
- L1210 (Q6456824): D007939, D007939
- microcephaly lymphoedema chorioretinal dysplasia (Q6839330): C537711, C537711
- Multifocal fibrosclerosis (Q6934687): C537375, C537375
- orbital lymphoma (Q7100076): C537131, C537131
- Ovarian fibroma (Q7113247): C562391, C562391
- Palmoplantar keratoderma and spastic paraplegia (Q7128427): C536153, C536153
- pancreatoblastoma (Q7130423): C537162, C537162
- pili torti (Q7193994): C562485, C562485
- pleuropulmonary blastoma (Q7204815): C537516, C537516
- Qazi Markouizos syndrome (Q7267327): C536259, C536259
- Quebec platelet disorder (Q7269853): C536260, C536260
- restrictive dermopathy (Q7316329): C536920, C536920
- reticular dysgenesis (Q7316718): C538361, C538361
- sarcosinemia (Q7423635): C537236, C537236
- sclerocornea (Q7434154): C565209, C565209
- Scott syndrome (Q7437571): C563120, C563120
- Shapiro syndrome (Q7489283): C559045, C537594
- Sinus venosus atrial septal defect (Q7525206): C548009, C548009
- orofaciodigital syndrome III (Q7635034): C557817, C557817
- synpolydactyly (Q7662637): C538153, C538153
- tooth and nail syndrome (Q7824262): C536736, C536736
- ulnar-mammary syndrome (Q7879712): C536937, C536937
- Vici syndrome (Q7925271): C535566, C535566
- Wolcott-Rallison syndrome (Q8029730): C536739, C536739
- Woodhouse–Sakati syndrome (Q8032762): C536742, C536742
- Young-Simpson syndrome (Q8058422): C536717, C536717
- Yunis-Varon syndrome (Q8061303): C536719, C536719
- Fetal valproate spectrum disorder (Q9081119): C536525, C536525
- amyotrophic lateral sclerosis with polyglucosan bodies (Q9347519): C565955, C565955
- Ermine phenotype (Q9390210): C535508, C562663
- Hoyeraal-Hreidarsson syndrome (Q9390252): C536068, C536068
- diffuse alopecia areata (Q9394945): C531609, C531609
- biotin deficiency (Q10264745): C531633, C531633
- SPOAN syndrome (Q10376449): C563702, C563702
- bradyopsia (Q10434599): C564243, C564243
- Vein of Galen aneurysmal malformations (Q11766796): C536535, C536535
- Native American myopathy (Q11781607): C538343, C538343
- dicarboxylic aminoaciduria (Q16252204): C536171, C536171
- radioulnar synostosis (Q16892594): C562408, C562408
- neurodegeneration with brain iron accumulation (Q16892735): C538421, C538421
- autosomal recessive distal spinal muscular atrophy 2 (Q16944450): C535715, C535715
- ethylmalonic encephalopathy (Q17119115): C535737, C535737
- Nance-Horan syndrome (Q17144153): C538336, C538336
- odontoonychodermal syndrome (Q17148148): C563160, C563160
- glucocorticoid-remediable aldosteronism (Q17149181): C563177, C563177
- sepiapterin reductase deficiency (Q17156923): C562657, C562657
- Fuhrmann syndrome (Q18411838): C538189, C538189
- Holzgreve-Wagner-Rehder Syndrome (Q18412454): C535327, C535327
- complement factor I deficiency (Q18553256): C572568, C572568
- acrocapitofemoral dysplasia (Q18553334): C564334, C564334
- hypochromic microcytic anemia (Q18553373): C536357, C536357
- bestrophinopathy (Q18553385): C567518, C567518
- Birk-Barel syndrome (Q18553391): C567357, C567357
- blue cone monochromacy (Q18553394): C538165, C536238
- Bowen-Conradi syndrome (Q18553398): C537081, C537081
- brachydactyly-syndactyly syndrome (Q18553404): C565193, C565193
- cerebral folate receptor alpha deficiency (Q18553424): C567791, C567791
- PHGDH deficiency, infantile/juvenile form (Q18553426): C566618, C566618
- schneckenbecken dysplasia (Q18553466): C536637, C536637
- proximal symphalangism (Q18553473): C536223, C536223
- achalasia microcephaly syndrome (Q18553480): C536010, C536010
- peroxisomal acyl-CoA oxidase deficiency (Q18553481): C536662, C536662
- Ehlers-Danlos syndrome progeroid type (Q18553484): C536201, C536201
- homocarnosinosis (Q18553707): C535328, C535328
- acromesomelic dysplasia, Maroteaux type (Q18553753): C535661, C535661
- hyperpigmentation of eyelid (Q18553782): C562400, C562400
- prostate malignant phyllodes tumor (Q18553832): C549759, C549759
- primary polycythemia (Q18553930): C536842, C536842
- gastrointestinal anthrax (Q18554504): C571911, C571911
- hypertelorism, microtia, facial clefting syndrome (Q18554800): C537632, C537632
- multiple intestinal atresia (Q18554801): C562441, C562441
- orbit rhabdomyosarcoma (Q18555355): C537605, C537605
- eosinophilic gastritis (Q18556159): C535952, C535952
- secondary syphilis (Q18556216): C536773, C536773
- breast angiosarcoma (Q18556357): C536368, C536368
- pancreatic carcinoma (Q18556536): C562463, C562463
- breast secretory carcinoma (Q18556551): C537535, C537535
- malignant mesenchymoma (Q18556993): C535700, C535700
- extraskeletal myxoid chondrosarcoma (Q18557267): C563195, C563195
- cutaneous anthrax (Q18557581): C531621, C531621
- Wolffian adnexal neoplasm (Q18557621): C536741, C536741
- non-functioning pancreatic endocrine tumor (Q18557705): C536126, C536126
- hereditary night blindness (Q18557952): C537743, C537743
- xanthogranulomatous cholecystitis (Q18558215): C536762, C536762
- choroidal sclerosis (Q18558226): C535358, C535358
- Barber-Say syndrome (Q18616565): C537908, C537908
- mast syndrome (Q18966121): C565409, C565409
- scapuloperoneal myopathy (Q18966132): C536624, C536624
- pontocerebellar hypoplasia type 2B (Q18966149): C567325, C567325
- pontocerebellar hypoplasia type 2C (Q18966150): C567324, C567324
- pontocerebellar hypoplasia type 3 (Q18966154): C548072, C548072
- pontocerebellar hypoplasia type 4 (Q18966155): C536716, C536716
- pontocerebellar hypoplasia type 5 (Q18966156): C537745, C537745
- pontocerebellar hypoplasia type 6 (Q18966158): C548074, C548074
- macrodactylia of toes (Q18966807): C537719, C537719
- macrodactylia of fingers (Q18966921): C537720, C537720
- primary pigmented nodular adrenocortical disease (Q18987129): C566469, C566472
- parietal foramina (Q18987133): C566826, C566826
- orofaciodigital syndrome IV (Q19297696): C537133, C537133
- upper limb mesomelic dysplasia (Q20828760): C538069, C538069
- spastic ataxia (Q21082498): C564815, C564815
- spinocerebellar ataxia type 19/22 (Q21097767): C537198, C542540
- spinocerebellar ataxia type 25 (Q21097770): C537202, C537202
- spinocerebellar ataxia type 26 (Q21097771): C537203, C537203
- acromelic frontonasal dysostosis (Q21124508): C566345, C535657, C566345
- hypoparathyroidism-retardation-dysmorphism syndrome (Q21124512): C537157, C537157
- Stormorken syndrome (Q21124520): C566108, C566108
- hereditary papulotranslucent acrokeratoderma (Q21124525): C566323, C566323
- orofaciodigital syndrome VII (Q21124535): C563104, C563104
- Cole-Carpenter syndrome (Q21127479): C535963, C535963
- orofaciodigital syndrome X (Q21154048): C563491, C563491
- orofaciodigital syndrome IX (Q21154050): C557818, C557818
- acrofacial dysostosis Rodriguez type (Q21154051): C538183, C538183
- acrofacial dysostosis, Catania type (Q21154052): C538182, C538182
- acrofacial dysostosis, Patagonia type (Q21154053): C538185, C538185
- distal 10q deletion syndrome (Q21154055): C567182, C567182
- chromosome 15q13.3 microdeletion syndrome (Q21154058): C567439, C567439
- chromosome 15q26-qter deletion syndrome (Q21154060): C567232, C567232
- chromosome 19q13.11 deletion syndrome (Q21154066): C567810, C567810
- chromosome 3q13.31 deletion syndrome (Q21154071): C536808, C536808
- granular corneal dystrophy type II (Q21154084): C535474, C535474
- episodic ataxia (Q21503282): C580065, C580065
- chromosome 3q29 microduplication syndrome (Q21505486): C567626, C567626
- oculoauricular syndrome (Q22030614): C567416, C567416
- Schimke immuno-osseous dysplasia (Q22938868): C536629, C536629
- mitochondrial complex I deficiency (Q23542367): C537475, C537475
- myofibrillar myopathy (Q23893414): C580316, C580316
- DMD-related dilated cardiomyopathy (Q26492779): C580047, C580047
- XFE progeroid syndrome (Q26492799): C567043, C567043
- mitochondrial DNA depletion syndrome 5 (Q26492817): C567624, C580473
- chondrodysplasia-pseudohermaphroditism syndrome (Q27674741): C536123, C536123
- amelogenesis imperfecta type 2A1 (Q27674801): C538242, C567146
- cataract 5 multiple types (Q27674895): C535342, C535342
- osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures (Q27674940): C563487, C563487
- Charcot-Marie-Tooth disease type 1E (Q27677646): C538078, C537986
- osteogenesis imperfecta type 5 (Q27677743): C567042, C536046
- autosomal recessive pericentral pigmentary retinopathy (Q27677820): C564838, C564838
- Cayman type cerebellar ataxia (Q28024512): C563363, C563363
- syndromic X-linked intellectual disability 7 (Q28065612): C537449, C537449
- syndromic X-linked intellectual disability Siderius type (Q28065616): C537333, C537333
- Miles-Carpenter syndrome (Q28065619): C537472, C537472
- syndromic X-linked intellectual disability Abidi type (Q28065622): C535556, C535556
- Christianson syndrome (Q28065629): C537450, C567484, C537450, C567484
- HCT 116 (Q28334584): D045325, D045325
- Hemochromatosis type 4 (Q28448698): C537249, C537249
- antecubital pterygium syndrome (Q29982055): C566738, C566738
- RIDDLE syndrome (Q30989182): C567453, C567453
- enhanced S-cone syndrome (Q30989221): C564835, C564835
- COL4A1-related familial vascular leukoencephalopathy (Q30989685): C564372, C531642
- hereditary neutrophilia (Q30989899): C563010, C563010
- familial cold autoinflammatory syndrome 2 (Q30990079): C567090, C567090
- osteoporosis-pseudoglioma syndrome (Q32136402): C536063, C536063
- Pierson syndrome (Q32136429): C537185, C537185
- renal hypomagnesemia 5 with ocular involvement (Q32136710): C536148, C536148
- renal hypomagnesemia 2 (Q32136745): C537152, C537152
- osteopathia striata with cranial sclerosis (Q32136756): C536053, C536053
- autosomal recessive Parkinson disease 14 (Q32136892): C567844, C567844
- hereditary spastic paraplegia 11 (Q32142563): C537483, C538335
- hereditary spastic paraplegia 8 (Q32143419): C580458, C536867
- brachydactyly type A2 (Q32145361): C537089, C537089
- brachydactyly type A6 (Q32145404): C537092, C537092
- brachydactyly type C (Q32145433): C537093, C537093
- Mononen-Karnes-Senac syndrome (Q32145477): C535914, C535914
- Joubert syndrome 10 (Q32145593): C567582, C567582
- Joubert syndrome 2 (Q32145701): C536294, C536294
- Joubert syndrome 3 (Q32145844): C536295, C536295
- Joubert syndrome with renal defect (Q32145858): C536296, C536296
- Joubert syndrome 5 (Q32145870): C537688, C537688
- Joubert syndrome 6 (Q32145884): C537689, C537689
- Joubert syndrome 7 (Q32145897): C566916, C566916
- Joubert syndrome 8 (Q32145912): C567358, C567358
- Joubert syndrome 9 (Q32145925): C567364, C567364
- Ambras type hypertrichosis universalis congenita (Q32146666): C536605, C536605
- Potocki-Luspski syndrome (Q39656409): C538355, C536578
- infantile histiocytoid cardiomyopathy (Q41516644): C535584, C535584
- Bifid nose (Q42848169): C535441, C535441
- congenital bile acid synthesis defect 3 (Q42863603): C566340, C566340
- congenital bile acid synthesis defect 1 (Q42863605): C535442, C535442
- Hyperkeratosis lenticularis perstans (Q43185102): C538377, C538377
- bilateral renal aplasia (Q44743904): C536482, C536482
- hereditary sensory neuropathy type 1B (Q50349714): C564296, C564296
- camptodactyly-tall stature-scoliosis-hearing loss syndrome (Q50349826): C537975, C537975
- 5-oxoprolinase deficiency (Q52611903): C535322, C535322
- snowflake vitreoretinal degeneration (Q55345684): C536677, C536677
- cleft palate-lateral synechia syndrome (Q55373613): C563047, C563047
- ankyloblepharon filiforme adnatum-cleft palate syndrome (Q55780326): C536373, C536373
- arthritis, Sacroiliac (Q55780347): C563037, C563037
- neurofibromatosis type 6 (Q55780397): C537421, C537421
- cervical vertebral dysplasia (Q55780412): C566140, C566140
- idiopathic spontaneous coronary artery dissection (Q55780447): C565153, C565153
- calvarial doughnut lesions-bone fragility syndrome (Q55780509): C565089, C565089
- preauricular fistulae, congenital (Q55780525): C563015, C563015
- pretibial dystrophic epidermolysis bullosa (Q55780557): C535494, C535494
- facial hypertrichosis (Q55780589): C565029, C565029
- Laurin-Sandrow syndrome (Q55780712): C535689, C535689
- fibronectin glomerulopathy (Q55780814): C536826, C562900
- Heinz body anemia (Q55780855): C563030, C563030
- hyperostosis cranialis interna (Q55781050): C564168, C564168
- congenital laryngeal web (Q55781173): C563636, C537676
- benign concentric annular macular dystrophy (Q55781200): C537833, C537833
- Megalodactyly (Q55781215): C562546, C562546
- nasal bones, absence of (Q55781269): C562753, C562753
- nose, anomalous shape of (Q55781290): C538354, C538354
- patella aplasia/hypoplasia (Q55781346): C535568, C535568
- platelet aggregation, spontaneous (Q55781376): C566800, C566800
- polydactyly of a biphalangeal thumb (Q55781386): C536332, C536332
- stomach polyp (Q55781391): C562464, C562464
- radial Heads, posterior dislocation of (Q55781437): C566728, C566728
- radial ray hypoplasia-choanal atresia syndrome (Q55781439): C536263, C537280
- spinal muscular atrophy, segmental (Q55781491): C566670, C566670
- distal symphalangism (Q55781526): C566099, C566099
- thumb deformity (Q55781551): C536903, C536903
- thumb deformity-alopecia-pigmentation anomaly syndrome (Q55781552): C566054, C536904
- triphalangeal thumb, Nonopposable (Q55781580): C536562, C536562
- triphalangeal thumbs-brachyectrodactyly syndrome (Q55781582): C536564, C535585
- short-limb skeletal dysplasia with severe combined immunodeficiency (Q55781626): C536020, C565984
- camptodactyly syndrome, Guadalajara type 2 (Q55781704): C537971, C567138
- autosomal recessive palmoplantar keratoderma and congenital alopecia (Q55781720): C535336, C535336
- cystic disease of lung (Q55781791): C563237, C563237
- ectodermal dysplasia-sensorineural deafness syndrome (Q55781844): C565606, C535757
- congenital high-molecular-weight kininogen deficiency (Q55781893): C537060, C537060
- histidinuria due to a renal tubular defect (Q55781937): C538321, C538321
- hydroxyprolinemia (Q55781950): C562669, C562669
- hyper-beta-alaninemia (Q55781951): C562684, C562684
- microcephaly-cardiomyopathy syndrome (Q55782098): C537324, C536711
- microcolon (Q55782106): C562563, C562563
- radioulnar synostosis-developmental delay-hypotonia syndrome (Q55782257): C538217, C564856
- isolated sulfite oxidase deficiency (Q55782334): C538141, C538141
- non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome (Q55782341): C536952, C537496
- ulna hypoplasia-intellectual disability syndrome (Q55782375): C564757, C536934
- retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome (Q55782389): C564750, C535283
- contractures-ectodermal dysplasia-cleft lip/palate syndrome (Q55782532): C538135, C535465
- lethal infantile mitochondrial myopathy (Q55782728): C564017, C564017
- isolated anterior cervical hypertrichosis (Q55782854): C538390, C538390
- hereditary hyperferritinemia with congenital cataracts (Q55782879): C538137, C538137
- absent tibia-polydactyly-arachnoid cyst syndrome (Q55782897): C536918, C563403
- patent ductus venosus (Q55783186): C562830, C562830
- lymphedema-atrial septal defects-facial changes syndrome (Q55783237): C567398, C535539
- pelvic dysplasia-arthrogryposis of lower limbs syndrome (Q55783270): C535548, C535292
- baby rattle pelvis dysplasia (Q55783426): C537794, C565282
- deafness with labyrinthine aplasia, microtia, and microdontia (Q55783760): C548011, C565195
- glycogen storage disease due to lactate dehydrogenase H-subunit deficiency (Q55784190): C563641, C563641
- platelet-activating factor acetylhydrolase deficiency (Q55784285): C566640, C566640
- idiopathic camptocormia (Q55785363): C537968, C537968
- complete atrioventricular canal (Q55785365): C535974, C535974
- microcephaly-microcornea syndrome, Seemanova type (Q55786409): C537536, C537539
- penoscrotal transposition (Q55786963): C536650, C536650
- Prata-Liberal-Goncalves syndrome (Q55787193): C538277, C538180
- 4-hydroxyphenylacetic aciduria (Q55789854): C535315, C535315
- congenital absence of septum pellucidum (Q55789858): C535562, C535562
- acute erythroleukemia, familial (Q55950214): C565039, C535673
- familial multinodular goiter (Q55950225): C562732, C562732
- congenital Horner syndrome (Q55950228): C564178, C564178
- familial congenital nasolacrimal duct obstruction (Q55950244): C566703, C566703
- secretory component deficiency (Q55998738): C562869, C562869
- autosomal recessive spondylocostal dysostosis (Q55999487): C537565, C535781
- myoglobinuria, recurrent (Q55999588): C564018, C564018
- muscular dystrophy, Scapulohumeral (Q55999599): C562932, C562932
- preaxial Hallucal polydactyly (Q55999634): C566632, C566632
- choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome (Q55999785): C537411, C563682, C537411
- factor Xiii, a subunit, deficiency of (Q56002513): C567691, C567691
- factor Xiii, b subunit, deficiency of (Q56002515): C567688, C567688
- early-onset anterior polar cataract (Q56014421): C538282, C538282
- cerulean cataract (Q56014422): C537955, C537955
- early-onset nuclear cataract (Q56014424): C563333, C563333
- King-Denborough syndrome (Q56014439): C536883, C537504
- Dursun syndrome (Q69638170): C567804, C567260
- phosphorylase a (Q76507211): D010762, D08.811.913.400.450.460.400.280
- Poor drug metabolism (Q109905255): C563703, C563835
"Format" violations
[edit]Violations count: 33
- chronic thyroiditis (Q11094): C20.111.809.500
- Sinapis (Q150072): B01.875.800.575.912.250.157.811
- Antirrhinum (Q157646): B01.875.800.575.912.250.583.700.067
- phosphatidylinositol 3-kinases (Q423725): D12.776.476.556
- sexual attraction (Q464859): novalue
- dysautonomia (Q620639): novalue
- Datura metel (Q715019): B01.875.800.575.912.250.908.500.188.550
- Jerusalem syndrome (Q1124410): novalue
- pathophysiology (Q1135939): Q000503
- retroelements (Q1473344): novalue
- behavioral addiction (Q1513352): novalue
- heparin-induced thrombocytopenia (Q1598365): novalue
- local infection (Q1868495): novalue
- synarthroidal joint (Q2865763): 0011873
- enzymology (Q2880775): Q000201
- scapular fracture (Q3377653): novalue
- desensitization (Q3493547): C0178702
- paternity (Q4540608): novalue
- etiology (Q5850078): Q000209
- UV-sensitive syndrome (Q7876086): 563466
- courtship display (Q10968643): novalue
- chemical synaptic transmission (Q14330653): novalue
- Middle East respiratory syndrome (Q16654806): D68065207
- Open Dialogue (Q18383305): novalue
- autonomic neuropathy (Q18554095): novalue
- clinical finding (Q28807560): novalue
- breeding (Q65360845): novalue
- physiological adaptation (Q67080983): novalue
- healthy worker effect (Q67527673): novalue
- phosphorylase a (Q76507211): D08.811.913.400.450.460.400.280
- female athlete triad syndrome (Q109310870): F03.400.937.500
- philosophy of death (Q113540506): novalue
- n of 1 trial (Q114497791): novalue
"Scope" violations
[edit]Violations count: 5
- MeSH qualifier ID (P9341): Wikidata property example (P1855): epidemiology (Q133805)
- MeSH qualifier ID (P9341): Wikidata property example (P1855): anatomy (Q514)
- MeSH qualifier ID (P9341): Wikidata property example (P1855): histology (Q7168)
- MeSH qualifier ID (P9341): Wikidata property example (P1855): violence prevention (Q104733130)
- MeSH qualifier ID (P9341): Wikidata property example (P1855): medical imaging (Q931309)
"Entity types" violations
[edit]Violations count: 0
"Allowed qualifiers" violations
[edit]Violations count: 11
- paricalcitol (Q155746): of (P642)
- cinacalcet (Q193978): start time (P580)
- (5bR,6S,12bS,5b'R,6'S,12b'S,5b''R,6''S,12b''S)-13,13',13''-[phosphorothioyltris(imino-2,1-ethanediyl)]tris(6-hydroxy-13-methyl-5b,6,7,12b,13,14-hexahydro[1,3]benzodioxolo[5,6-c][1,3]dioxolo[4,5-i]phenanthridin-13-ium) trihydroxide (Q502728): intended subject of deprecated statement (P8327)
- founder effect (Q504568): retrieved (P813)
- library catalog (Q856638): intended subject of deprecated statement (P8327)
- surgical oncology (Q3545481): start time (P580)
- etiology (Q5850078): object of statement has role (P3831)
- (3R,4′RS)-benidipine (Q11336997): intended subject of deprecated statement (P8327)
- White spot syndrome virus 1 (Q70922020): PubMed publication ID (P698)
- (1S,3R)-3-hydroxy-4-[(3Z,5E,7Z,9E,11Z,13E,15Z)-18-{(1S,4S,6R)-4-hydroxy-2,2,6-trimethyl-7-oxabicyclo[4.1.0]heptan-1-yl}-3,7,12,16-tetramethyl-17-oxooctadeca-1,3,5,7,9,11,13,15-octaen-1-ylidene]-3,5,5-trimethylcyclohexyl acetate (Q104389742): intended subject of deprecated statement (P8327)
- n of 1 trial (Q114497791): relative to (P2210)
Properties statistics
[edit]Accepted | Property | Usage |
---|---|---|
Yes | subject named as (P1810) | 30257 |
Yes | mapping relation type (P4390) | 5929 |
Yes | scope note (P9570) | 153 |
Yes | alternative name (P4970) | 51 |
Yes | reason for deprecated rank (P2241) | 13 |
No | intended subject of deprecated statement (P8327) | 4 |
Yes | MeSH qualifier ID (P9341) | 4 |
No | start time (P580) | 2 |
No | relative to (P2210) | 1 |
No | object of statement has role (P3831) | 1 |
No | of (P642) | 1 |
No | PubMed publication ID (P698) | 1 |
No | retrieved (P813) | 1 |