Wikidata:Database reports/Constraint violations/P4229

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Constraint violations report for ICD-10-CM (Discussion, uses, items, changes, related properties): identifier in the ICD-10-CM (International Classification of Diseases, 10th Revision, Clinical Modification)
Data time stamp: (UTC) — Items processed: 8,825
The report is generated based on the settings on Property:P4229#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.

"Format" violations[edit]

Violations count: 81

"Entity types" violations[edit]

Violations count: 0

"Scope" violations[edit]

Violations count: 0

"Type disease (Q12136), class of disease (Q112193867)" violations[edit]

Violations count: 34

Types statistics[edit]

Accepted Type Usage
Yes class of disease (Q112193867) 8521
Yes developmental defect during embryogenesis (Q55788864) 2242
Yes rare disease (Q929833) 2204
Yes disease (Q12136) 1302
Yes genetic disease (Q200779) 555
Yes autosomal recessive disease (Q10267817) 504
Yes head and neck disease (Q55789477) 466
Yes autosomal dominant disease (Q18553439) 458
Yes infectious disease (Q18123741) 337
Yes syndrome (Q179630) 285
Yes genetic syndromic intellectual disability (Q55785866) 264
Yes designated intractable/rare disease (Q42303753) 237
Yes multiple congenital anomalies/dysmorphic syndrome-intellectual disability (Q55785288) 228
Yes rare genetic developmental defect during embryogenesis (Q55785846) 172
Yes multiple congenital anomalies/dysmorphic syndrome without intellectual disability (Q55785290) 126
Yes nervous system heredodegenerative disease (Q19001236) 102
Yes X-linked intellectual disability (Q8041560) 96
Yes viral infectious disease (Q1928978) 85
Yes syndromic genetic deafness (Q55788734) 83
Yes skin disease (Q949302) 78
Yes autosomal recessive nonsyndromic deafness (Q18553310) 78
Yes retinitis pigmentosa (Q847057) 74
Yes neurometabolic disease (Q1337418) 67
Yes X-linked recessive disease (Q55010090) 66
Yes hereditary disorder (Q3311537) 65
Yes hereditary spastic paraplegia (Q657516) 64
Yes syndromic developmental defect of the eye (Q55785336) 61
Yes chromosomal deletion syndrome (Q16918398) 57
Yes orofacial clefting syndrome (Q55785405) 56
Yes autosomal dominant nonsyndromic deafness (Q18553309) 54
Yes eye disease (Q3041498) 53
Yes multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (Q55785289) 52
Yes immune disorder (Q3843811) 49
Yes osteochondrodysplasia (Q3251367) 48
Yes eye degenerative disease (Q18558225) 47
Yes cataract (Q127724) 46
Yes monogenic disease (Q1225194) 45
Yes rare genetic respiratory disease (Q55785522) 45
Yes lung disease (Q3392853) 45
Yes encephalopathy (Q576349) 44
Yes congenital disorder (Q727096) 43
Yes dilated cardiomyopathy (Q283656) 41
Yes spinocerebellar ataxia (Q899726) 41
Yes developmental anomaly of metabolic origin (Q55785399) 41
Yes genetic nervous system disorder (Q55788492) 40
Yes amino acid metabolic disorder (Q18558086) 40
Yes intestinal disease (Q3055380) 37
Yes syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy (Q55787048) 36
Yes parasitic helminthiasis infectious disease (Q578994) 35
Yes kidney disease (Q1054718) 35
Yes primary bacterial infectious disease (Q18553247) 35
Yes malformation syndrome with odontal and/or periodontal component (Q55785406) 34
Yes autosomal recessive complex spastic paraplegia (Q55345926) 33
Yes syndromic craniosynostosis (Q55785407) 33
Yes primary ciliary dyskinesia (Q1690779) 33
Yes syndromic renal or urinary tract malformation (Q55788832) 32
Yes syndrome with brachydactyly (Q55788468) 32
Yes bacterial infectious disease (Q727028) 31
Yes syndromic anorectal malformation (Q55785353) 31
Yes arthropathy (Q708176) 31
Yes syndrome with limb reduction defects (Q55787046) 31
Yes neurological disorder (Q3339235) 30
Yes rare genetic epilepsy (Q55785842) 30
Yes dysostosis of genetic origin with limb anomaly as a major feature (Q55788097) 29
Yes inflammatory disease (Q3508753) 28
Yes congenital heart disease (Q939364) 28
Yes zoonosis (Q182672) 28
Yes autosomal recessive cerebellar ataxia (Q4826996) 27
Yes thoracic disease (Q18553676) 27
Yes autosomal dominant cerebellar ataxia type I (Q55346087) 26
Yes Charcot-Marie-Tooth disease type 2 (Q3281254) 26
Yes neurodegeneration (Q1755122) 26
Yes connective tissue disease (Q1779300) 25
Yes hypogonadotropic hypogonadism (Q30990102) 25
Yes ectodermal dysplasia (Q1323713) 25
Yes secondary glomerular disease (Q55788835) 24
Yes genetic skin vascular disorder (Q55785835) 24
Yes type-1 diabetes (Q124407) 23
Yes ring chromosome (Q474261) 23
Yes syndromic urogenital tract malformation (Q55785600) 23
Yes brachydactyly (Q896643) 23
Yes autosomal recessive limb-girdle muscular dystrophy (Q27429766) 23
Yes muscular disease (Q692536) 22
Yes autoimmune disease (Q8084905) 22
Yes rare genetic immune disease (Q55785867) 22
Yes inherited metabolic disorder (Q1758393) 21
Yes malformation syndrome with short stature (Q55785400) 21
Yes primary immunodeficiency disease (Q3043160) 21
Yes osteogenesis imperfecta (Q749409) 21
Yes colonic disease (Q18556754) 21
Yes polymalformative genetic syndrome with increased risk of developing cancer (Q55785832) 21
Yes liver disease (Q929737) 21
Yes corneal disease (Q10526382) 20
Yes severe combined immunodeficiency (Q1334408) 20
Yes inherited blood coagulation disease (Q18555031) 20
Yes amelogenesis imperfecta (Q461854) 20
Yes syndromic dyslipidemia (Q55785804) 20
Yes neuronal ceroid lipofuscinosis (Q4358039) 20
Yes dystonia (Q906492) 20
Yes X-linked dominant disease (Q55010089) 20
Yes branchial arch or oral-acral syndrome (Q55785404) 20
Yes syndromic intellectual disability (Q18553536) 20
Yes rare genetic bone disease (Q55785844) 20
Yes hereditary retinal dystrophy (Q18557955) 20
Yes Bardet-Biedl syndrome (Q1678281) 19
Yes ptosis (Q622427) 19
Yes partial autosomal monosomy (Q55789085) 19
Yes overgrowth syndrome (Q7113674) 19
Yes total autosomal trisomy (Q55789082) 19
Yes mitochondrial disease (Q935710) 19
Yes syndromic obesity (Q55786310) 19
Yes fundus dystrophy (Q5811451) 19
Yes rare syndrome with cardiac malformations (Q55785518) 19
Yes genetic peripheral neuropathy (Q55789138) 19
Yes respiratory system abnormality (Q18975820) 18
Yes notifiable disease (Q314676) 18
Yes chromosomal duplication syndrome (Q21082526) 18
Yes peripheral neuropathy (Q945238) 18
Yes spinal disease (Q7577457) 18
Yes glycogen storage disease (Q1421738) 18
Yes primary bone dysplasia with increased bone density (Q55788814) 18
Yes vascular skin disease (Q18558156) 18
Yes carbohydrate metabolic disorder (Q6013981) 18
Yes malformation syndrome (Q1401195) 17
Yes lipid metabolism disorder (Q1476525) 17
Yes mental disorder (Q12135) 17
Yes vascular disease (Q1266890) 17
Yes gastrointestinal system disease (Q2300099) 17
Yes rare skin disease (Q55788696) 17
Yes central nervous system disease (Q5062122) 17
Yes rare nervous system tumor (Q55789072) 17
Yes in situ carcinoma (Q1035645) 17
Yes rare genetic endocrine disease (Q55785525) 17
Yes Leber congenital amaurosis (Q1811132) 17
Yes congenital hemolytic anemia (Q5160435) 16
Yes neglected tropical disease (Q929451) 16
Yes syndromic cataract (Q55789221) 16
Yes syndrome with microcephaly as major feature (Q55786834) 16
Yes nose and cavum anomaly (Q55785515) 16
Yes carcinoma (Q33525) 16
Yes retinal disease (Q550455) 16
Yes malformation syndrome with skin/mucosae involvement (Q55785402) 16
Yes genetic cardiac rhythm disease (Q55785258) 16
Yes syndrome with disorder of sex development of gynecological interest (Q55787661) 16
Yes hereditary neoplastic syndromes (Q1348398) 16
Yes rare dyslipidemia (Q55785266) 16
Yes endocrine gland cancer (Q18554878) 16
Yes lacrimal apparatus disease (Q18554657) 16
Yes rare genetic vascular tumor (Q55788290) 16
Yes spondyloepimetaphyseal dysplasia (Q18966185) 16
Yes syndrome with combined immunodeficiency (Q55787698) 16
Yes genetic epidermal disorder (Q55785833) 15
Yes rare genetic gynecological and obstetrical diseases (Q55785863) 15
Yes blood platelet disease (Q2429620) 15
Yes rare metabolic liver disease (Q55785261) 15
Yes X-linked disease (Q18553438) 15
Yes upper respiratory tract disease (Q18558209) 15
Yes infectious disease with epilepsy (Q55785635) 15
Yes syndrome or malformation associated with head and neck malformations (Q55785513) 14
Yes penile disease (Q18554834) 14
Yes blood coagulation disease (Q890200) 14
Yes lysosomal storage disease (Q675010) 14
Yes craniosynostosis (Q378183) 14
Yes non-severe combined immunodeficiency (Q55788363) 14
Yes nevus (Q692077) 14
Yes type 2 collagen-related bone disorder (Q55788797) 14
Yes autoimmune skin disease (Q12504769) 14
Yes pigmentation disorder (Q7193408) 14
Yes arrhythmogenic right ventricular cardiomyopathy (Q2555727) 14
Yes long QT syndrome (Q653924) 14
Yes progeroid syndrome (Q6139748) 14
Yes inherited tumor (Q1117773) 14
Yes uniparental disomy of maternal origin (Q55789087) 14
Yes primary bone dysplasia with decreased bone density (Q55788815) 14
Yes tooth pathology (Q5259414) 14
Yes rare intoxication (Q55785342) 14
Yes Ehlers-Danlos syndrome (Q1141499) 14
Yes metabolic disease with intestinal involvement (Q55785312) 14
Yes palmoplantar keratosis (Q7128426) 14
Yes autosomal genetic disease (Q18553442) 14
Yes syndromic glaucoma (Q55789219) 14
Yes drug-induced abnormality (Q5308960) 14
Yes IgG4-related disease (Q11039483) 14
Yes spondylometaphyseal dysplasia (Q19309317) 14
Yes hyperpigmentation of the skin (Q55788594) 14
Yes primary bone dysplasia with disorganized development of skeletal components (Q55788820) 13
Yes chromosomal anomaly with cataract (Q55789222) 13
Yes nephropathy secondary to a storage or other metabolic disease (Q55788855) 13
Yes syndromic diaphragmatic or abdominal wall malformation (Q55785334) 13
Yes syndromic hereditary optic neuropathy (Q55788215) 13
Yes arbovirosis (Q2859732) 13
Yes metabolic disease with dementia (Q55789148) 13
Yes female reproductive system disease (Q5442760) 13
Yes mesomelic and rhizo-mesomelic dysplasia (Q55788809) 13
Yes central nervous system and retinal vascular disease (Q55788489) 13
Yes rare genetic diabetes mellitus (Q55785854) 13
Yes non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature (Q55787877) 13
Yes teratogenic Pierre robin syndrome (Q55785395) 13
Yes autoimmune disease of musculoskeletal system (Q18553609) 13
Yes bone disease (Q4941552) 13
Yes congenital disorder of amino acid metabolism (Q3281372) 13
Yes genetic cardiac disease (Q55789068) 13
Yes other syndrome with a central nervous system malformation as major feature (Q55786835) 13
Yes combined oxidative phosphorylation deficiency (Q18987134) 13
Yes asphyxiating thoracic dysplasia (Q4807981) 13
Yes autosomal recessive congenital ichthyosis (Q27982006) 13
Yes syndrome with 46,XY disorder of sex development (Q55789077) 13
Yes inflammation (Q101991) 12
Yes urethral disease (Q18557550) 12
Yes deformity of chest and rib (Q25377767) 12
Yes leukodystrophy (Q1821559) 12
Yes esophageal disease (Q2912193) 12
Yes complement deficiency (Q5156409) 12
Yes mouth disease (Q2508462) 12
Yes urinary system disease (Q7900883) 12
Yes Charcot-Marie-Tooth disease type 4 (Q3281259) 12
Yes Alzheimer's disease (Q11081) 12
Yes skin infection (Q2458539) 12
Yes bladder disease (Q6066379) 12
Yes combined immunodeficiency (Q5150906) 12
Yes congenital myopathy (Q112412) 12
Yes chromosomal disease (Q4501577) 12
Yes lysosomal storage disease with skeletal involvement (Q55788818) 12
Yes syndromic neurometabolic disease with X-linked intellectual disability (Q55785814) 12
Yes atrial heart septal defect (Q757749) 12
Yes syndromic lymphedema (Q55788697) 12
Yes classic organic aciduria (Q55788539) 12
Yes muscular glycogenosis (Q55785945) 12
Yes other acquired skin disease (Q55788714) 12
Yes occupational disease (Q637816) 12
Yes acute myeloid leukemia (Q264118) 12
Yes mosquito-borne disease (Q6916469) 12
Yes Charcot-Marie-Tooth disease intermediate type (Q18553298) 12
Yes cerebral degeneration (Q1620193) 12
Yes primary lymphedema with associated anomalies (Q55788282) 12
Yes syndrome with a cerebellar malformation as major feature (Q55786833) 12
Yes hypertrophic cardiomyopathy (Q1364270) 12
Yes nutritional deficiency disease (Q1890194) 12
Yes endocrine system disease (Q2661443) 12
Yes rare acquired eye disease (Q55785265) 12
Yes syndromic microphthalmia (Q29982037) 12
Yes neurodegeneration with brain iron accumulation (Q16892735) 12
Yes eyelid disease (Q18556729) 12
Yes genetic otorhinolaryngologic disease (Q55788308) 12
Yes foot diseases (Q5282137) 11
Yes genetic neurodegenerative disease with dementia (Q55346116) 11
Yes unclassified primitive or secondary maculopathy (Q55789241) 11
Yes dysostosis (Q1269307) 11
Yes non-syndromic pontocerebellar hypoplasia (Q1698867) 11
Yes epithelial and subepithelial dystrophy (Q21154080) 11
Yes pancreas disease (Q7130407) 11
Yes endemic disease (Q506680) 11
Yes autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature (Q55789116) 11
Yes uterine corpus cancer (Q18558133) 11
Yes autoimmune connective tissue disorder (Q2208472) 11
Yes bone development disease (Q18553737) 11
Yes thyroid gland disease (Q6673122) 11
Yes male reproductive system disease (Q6742925) 11
Yes strabismus (Q179951) 11
Yes mitochondrial myopathy (Q6881881) 11
Yes early-onset autosomal dominant Alzheimer disease (Q55345929) 11
Yes genetic systemic or rheumatologic disease (Q55786852) 11
Yes motor neuron disease (Q3221083) 11
Yes congenital muscular dystrophy (Q1321884) 11
Yes heart disease (Q190805) 11
Yes dysostosis with predominant vertebral and costal involvement (Q55788823) 11
Yes genetic movement disorder (Q55785843) 11
Yes adverse drug reaction (Q45959) 11
Yes larynx anomaly (Q55785516) 11
Yes fungal infectious disease (Q464067) 11
Yes hepatic vascular disease (Q18555173) 11
Yes arthritis (Q170990) 11
Yes rare bone disease (Q55788795) 11
Yes non-syndromic respiratory or mediastinal malformation (Q55785339) 11
Yes movement disorders (Q2608695) 11
Yes central nervous system vascular malformation (Q54945930) 11
Yes congenital disorder of glycosylation (Q1125675) 11
Yes diffuse large B-cell lymphoma (Q2626074) 11
Yes Huntington's disease-like syndrome (Q24977062) 11
Yes keratitis (Q757838) 11
Yes amyloidosis (Q816798) 11
Yes cerebral malformation with epilepsy (Q55785630) 11
Yes brain cancer (Q9303627) 11
Yes skin tumor or hamartoma (Q55788604) 11
Yes subcutaneous tissue disease (Q55788601) 11
Yes oral-facial-digital syndrome (Q3508783) 11
Yes rare abdominal surgical disease (Q55785601) 11
Yes personality disorder (Q270673) 11
Yes Epilepsy in children (Q5382985) 11
Yes genetic deafness (Q3505181) 11
Yes primary bone dysplasia with multiple joint dislocations (Q55788812) 11
Yes connective tissue neoplasm (Q3542012) 11
Yes spastic ataxia (Q21082498) 10
Yes bullous skin disease (Q18557957) 10
Yes complex hereditary spastic paraplegia (Q55345931) 10
Yes dermatitis (Q229256) 10
Yes conjunctival disease (Q18556249) 10
Yes iron overload (Q2025687) 10
Yes pure or complex autosomal recessive spastic paraplegia (Q55346014) 10
Yes parasitic protozoa infectious disease (Q353172) 10
Yes heart conduction disease (Q1361515) 10
Yes rare hemorrhagic disorder due to a constitutional coagulation factors defect (Q55788455) 10
Yes metabolic disease (Q2351083) 10
Yes vitreoretinal degeneration (Q55346101) 10
Yes rare cutaneous lichen planus (Q55786412) 10
Yes genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature (Q55786837) 10
Yes sphingolipidosis (Q2309612) 10
Yes optic atrophy (Q3629049) 10
Yes stomach disease (Q175827) 10
Yes split hand-foot malformation (Q30989072) 10
Yes uniparental disomy of paternal origin (Q55789089) 10
Yes genetic vascular anomaly (Q55786073) 10
Yes spinal muscular atrophy (Q580290) 10
Yes hemolytic anemia (Q1145668) 10
Yes syndromic corneal dystrophy (Q55789212) 10
Yes metal metabolism disorder (Q3281373) 10
Yes hemoglobinopathy (Q1642147) 10
Yes vaginal disease (Q18211693) 10
Yes genodermatosis (Q666075) 10
Yes optic nerve disease (Q2879095) 10
Yes multiple metaphyseal dysplasia (Q55788805) 10
Yes lymphoproliferative disorders (Q4165484) 10
Yes rare disease involving intestinal motility (Q55785311) 10
Yes epidermolysis bullosa simplex (Q3124960) 10
Yes anxiety disorder (Q544006) 10
Yes hypomyelinating leukodystrophy (Q28065591) 10
Yes hair diseases (Q2989168) 10
Yes Noonan syndrome (Q1543446) 10
Yes focal, segmental or multifocal dystonia (Q55785869) 10
Yes autosomal recessive axonal hereditary motor and sensory neuropathy (Q16662546) 10
Yes genetic otorhinolaryngological malformation (Q55788178) 10
Yes viral encephalitis (Q3053951) 10
Yes cervix disease (Q18555046) 10
Yes myositis (Q1433212) 9
Yes muscular dystrophy (Q1137767) 9
Yes cysts and fistulae of the face and oral cavity (Q55785496) 9
Yes other epidermal disorder (Q55788580) 9
Yes epidermolysis bullosa dystrophica (Q3589131) 9
Yes Brugada syndrome (Q599683) 9
Yes syndromic nail anomaly (Q55788590) 9
Yes astrocytoma (Q177755) 9
Yes syndrome associated with dilated cardiomyopathy (Q55786153) 9
Yes extrinsic allergic alveolitis (Q35890) 9
Yes lissencephaly (Q1544416) 9
Yes basal epidermolysis bullosa simplex (Q55785544) 9
Yes anemia (Q5445) 9
Yes mouth cancer (Q1143025) 9
Yes mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA (Q55786430) 9
Yes rare parenchymal liver disease (Q55785260) 9
Yes cyanotic heart defect (Q2186829) 9
Yes autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature (Q55787268) 9
Yes thrombophilia (Q1570013) 9
Yes sleep disorder (Q177190) 9
Yes genetic hypertension (Q55785524) 9
Yes malformation syndrome with hamartosis (Q55789095) 9
Yes autosomal dominant cerebellar ataxia type III (Q55346088) 9
Yes schizophrenia (Q41112) 9
Yes nail disease (Q2084035) 9
Yes X-linked cerebellar ataxia (Q21082499) 9
Yes primary glomerular disease (Q55785293) 9
Yes epidermal disease (Q55788577) 9
Yes microphthalmia (Q1557239) 9
Yes leukocyte disease (Q18558143) 9
Yes autosomal recessive metabolic cerebellar ataxia (Q55346092) 9
Yes vasculitis (Q644318) 9
Yes knee disorder (Q18971535) 9
Yes orbital disease (Q18558098) 9
Yes tubulopathy (Q1048573) 9
Yes hypergonadotropic hypogonadism (Q5958036) 9
Yes reflex epilepsy (Q2895354) 9
Yes genetic hematologic disease (Q55785542) 9
Yes endometriosis (Q205764) 9
Yes hemolytic anemia due to a disorder of glycolytic enzymes (Q55789127) 9
Yes colitis (Q2453464) 9
Yes spinal cord disease (Q2303951) 9
Yes uterine disease (Q18555940) 9
Yes rare respiratory disease (Q55789042) 9
Yes amino acid transport disorder (Q471778) 9
Yes congenital mitral valve insufficiency and/or stenosis (Q55788892) 9
Yes chromosomal anomaly with epilepsy as a major feature (Q55785627) 9
Yes multiple abnormalities (Q6934911) 9
Yes ectoparasitism (Q5334259) 9
Yes specific developmental disorder (Q7574983) 9
Yes myofibrillar myopathy (Q23893414) 9
Yes epilepsy syndrome (Q55785625) 9
Yes flavivirus infectious disease (Q19001421) 9
Yes head and neck cancer (Q1783924) 9
Yes squamous cell carcinoma (Q681817) 9
Yes syndactyly (Q1360044) 9
Yes Spondylodysplastic dysplasia (Q55788806) 9
Yes dermis elastic tissue disorder (Q55788598) 9
Yes rare genetic intestinal disease (Q55785596) 9
Yes complication of pregnancy, childbirth and the puerperium (Q18975815) 9
Yes isolated microphthalmia (Q55762665) 8
Yes tick-borne disease (Q184243) 8
Yes methylmalonic acidemia (Q742500) 8
Yes renal tubular transport disease (Q6013986) 8
Yes congenital disorder of glycosylation with neurological involvement (Q55787867) 8
Yes photodermatosis (Q2986815) 8
Yes intractable diarrhea of infancy (Q55788495) 8
Yes Usher syndrome type 1 (Q32143464) 8
Yes lichen planus (Q848371) 8
Yes mesomelia (Q19597858) 8
Yes blepharitis (Q845698) 8
Yes inflammatory bowel diseases (Q917447) 8
Yes gastrointestinal system cancer (Q5526839) 8
Yes arthrogryposis multiplex congenita (Q55785297) 8
Yes nematode infection (Q2072680) 8
Yes inborn disorder of purine metabolism (Q55788557) 8
Yes xeroderma pigmentosum (Q612693) 8
Yes sex chromosome disorder (Q7458487) 8
Yes mitochondrial disease with hypertrophic cardiomyopathy (Q55786144) 8
Yes organic brain syndrome (Q360341) 8
Yes insulin resistance (Q1053470) 8
Yes Charcot–Marie–Tooth disease (Q1052687) 8
Yes rare rheumatologic disease (Q55785828) 8
Yes pleural disease (Q7204732) 8
Yes placenta disease (Q7200296) 8
Yes syndromic neurometabolic disease with non-X-linked intellectual disability (Q55785813) 8
Yes nervous system malformations (Q584265) 8
Yes opportunistic mycosis (Q18555090) 8
Yes respiratory disease (Q3286546) 8
Yes chondrodysplasia punctata (Q1076060) 8
Yes Slender bone dysplasia (Q55788811) 8
Yes corneal degeneration (Q18554311) 8
Yes diabetes (Q12206) 8
Yes rare genetic adrenal disease (Q55785858) 8
Yes syndromic diaphragmatic or thoracic malformation (Q55785792) 8
Yes primary bone dysplasia (Q55787804) 8
Yes hypertrichosis (Q595010) 8
Yes congenital limb deformity (Q5160441) 8
Yes inherited renal tubular disease (Q55785848) 8
Yes pneumonia (Q12192) 8
Yes aortic disease (Q18556675) 8
Yes organic acidemia (Q1547640) 8
Yes mineral metabolism disease (Q18553032) 8
Yes tongue disease (Q7107436) 8
Yes chromosomal disease with overgrowth (Q55788828) 8
Yes adrenal gland disease (Q4684717) 8
Yes vein disorder (Q7918687) 8
Yes metabolic disease with cataract (Q55789275) 8
Yes breast benign neoplasm (Q18553643) 8
Yes pneumoconiosis (Q651223) 8
Yes schizophrenia spectrum disorder (Q2903417) 8
Yes holoprosencephaly (Q1459821) 8
Yes rare genetic eye disease (Q55785254) 8
Yes aortic arch defects (Q55785350) 8
Yes hypothyroidism (Q16501) 8
Yes hydrocephalus (Q193003) 8
Yes sarcoma (Q223911) 8
Yes autosomal dominant limb-girdle muscular dystrophy (Q27429765) 8
Yes vulvar disease (Q18211751) 8
Yes Chromosome 15q partial deletion (Q5113911) 8
Yes episodic ataxia (Q21503282) 8
Yes bladder cancer (Q504775) 8
Yes renal cell carcinoma (Q1164529) 8
Yes Bartter disease (Q790971) 8
Yes testicular disease (Q7705854) 8
Yes inner ear disease (Q18555242) 8
Yes neuromuscular disease with dilated cardiomyopathy (Q55786149) 8
Yes congenital tricuspid malformation (Q55789283) 8
Yes syndrome associated with hypertrophic cardiomyopathy (Q55786146) 8
Yes acquired metabolic disease (Q18553699) 8
Yes systemic disease (Q1414805) 8
Yes leukemia (Q29496) 8
Yes artery disease (Q18965518) 8
Yes progressive muscular dystrophy (Q55785935) 8
Yes atypical hemolytic uremic syndrome (Q17165460) 8
Yes splenic disease (Q7578540) 8
Yes acrofacial dysostosis (Q21082523) 8
Yes persistent combined dystonia (Q55787958) 8
Yes middle ear disease (Q18556619) 8
Yes parasitic skin disease (Q54911414) 8
Yes autosomal dominant non-syndromic intellectual disability (Q19587382) 8
Yes infectious disease of the nervous system (Q10336461) 8
Yes eye inflammation (Q2971524) 8
Yes monogenic disease with epilepsy (Q55785628) 8
Yes stromal dystrophy (Q21154082) 8
Yes non-syndromic terminal limb defects (Q55787039) 8
Yes genetic lipodystrophy (Q55789109) 8
Yes alphavirus infections (Q4735280) 8
No symptom or sign (Q112965645) 8
Yes anthroponotic disease (Q1049711) 7
Yes genetic central nervous system and retinal vascular disease (Q55785839) 7
Yes syndromic myopia (Q55789206) 7
Yes baldness (Q181391) 7
Yes Epstein-Barr virus-associated malignant lymphoproliferative disorder (Q55786997) 7
Yes rare hemorrhagic disorder due to a qualitative platelet defect (Q55786859) 7
Yes Meckel syndrome (Q1915681) 7
Yes corneal ulcer (Q1628473) 7
Yes autosomal recessive cerebellar ataxia due to a DNA repair defect (Q55346093) 7
Yes pulmonary arterial hypertension associated with another disease (Q55786873) 7
Yes myelodysplastic syndrome (Q954625) 7
Yes substance abuse (Q3184856) 7
Yes arenavirus hemorrhagic fever (Q19001357) 7
Yes ichthyosis (Q523893) 7
Yes tracheal disease (Q18555344) 7
Yes autoinflammatory syndrome with skin involvement (Q55787013) 7
Yes autoimmune hemolytic anemia (Q28814) 7
Yes sulfuraminoacidemia (Q19001322) 7
Yes chronic condition (Q383126) 7
Yes rare developmental defect with connective tissue involvement (Q55785403) 7
Yes channelopathy (Q2936142) 7
Yes anal disease (Q56603543) 7
Yes other dermis disorder (Q55788600) 7
Yes bacterial skin disease (Q11864371) 7
Yes atypical pneumonia (Q2633267) 7
Yes non-dystrophic myopathy (Q55785938) 7
Yes tympanic membrane disease (Q18557008) 7
Yes autosomal dominant complex spastic paraplegia (Q55345924) 7
Yes T+ B+ severe combined immunodeficiency (Q55787980) 7
Yes pulmonary artery or pulmonary branch anomaly (Q55789281) 7
Yes disease of anatomical entity (Q18557436) 7
Yes congenital disorder of glycosylation with developmental anomaly (Q55787920) 7
Yes osteochondrosis (Q1154055) 7
Yes rare genetic renal disease (Q55789069) 7
Yes complex chromosomal rearrangement (Q55786712) 7
Yes midface dysplasia (Q3725646) 7
Yes junctional epidermolysis bullosa (Q3726862) 7
Yes focal segmental glomerulosclerosis (Q1435223) 7
Yes cutis laxa (Q2735907) 7
Yes salivary gland disease (Q17152566) 7
Yes amelia (Q23900578) 7
Yes syndromic hypothyroidism (Q55785710) 7
Yes impulse control disorder (Q1201835) 7
Yes keratosis (Q3667186) 7
Yes non-syndromic renal or urinary tract malformation (Q55788831) 7
Yes syndromic uterovaginal malformation (Q55785768) 7
Yes transmissible spongiform encephalopathy (Q703961) 7
Yes Jansky–Bielschowsky disease (Q4354940) 7
Yes ovarian disease (Q7113244) 7
Yes acromelic dysplasia (Q55788807) 7
Yes chromosome 2q deletion (Q39048665) 7
Yes respiratory system cancer (Q7315926) 7
Yes Poxviridae infectious disease (Q12353899) 7
Yes autosomal dominant pure spastic paraplegia (Q55345925) 7
Yes female reproductive organ cancer (Q18554220) 7
Yes botulism (Q154865) 7
Yes male infertility (Q280156) 7
Yes congenital diarrhea (Q28065579) 7
Yes lipodystrophy (Q1538213) 7
Yes vitamin metabolic disorder (Q18553423) 7
Yes neural tube defect (Q548213) 7
Yes hemangioma (Q861028) 7
Yes corneal dystrophy (Q2044949) 7
Yes rare genetic odontal or periodontal disorder (Q55788118) 7
Yes macular degeneration (Q27429789) 7
Yes adult neuronal ceroid lipofuscinosis (Q55346074) 7
Yes mitochondrial disease with eye involvement (Q55789259) 7
Yes idiopathic inflammatory myopathy (Q55789135) 7
Yes thrombocytopenia (Q585285) 7
Yes mitochondrial DNA depletion syndrome (Q17144217) 7
Yes 3-methylglutaconic aciduria (Q3598794) 7
Yes commensal bacterial infectious disease (Q18553248) 7
Yes uveitis (Q280027) 7
Yes Niemann–Pick disease, type C (Q2067267) 7
Yes coronary artery disease (Q844935) 7
Yes teeth hard tissue disease (Q18555006) 7
Yes non-Langerhans-cell histiocytosis (Q3136521) 7
Yes glucose metabolism disease (Q18556224) 7
Yes disorder of glycolysis (Q55787283) 7
Yes benign neoplasms by histologic type (Q18553645) 7
Yes pure or complex autosomal dominant spastic paraplegia (Q55346013) 7
Yes mitochondrial disease with epilepsy (Q55786197) 7
Yes infectious embryofetopathy (Q55786275) 7
Yes pemphigus (Q1483214) 7
Yes mitochondrial disease with peripheral neuropathy (Q55786198) 7
Yes mucopolysaccharidosis (Q1479681) 7
Yes primary hypomagnesemia (Q32136684) 6
Yes genetic alopecia (Q55789468) 6
Yes juvenile neuronal ceroid lipofuscinosis (Q1753778) 6
Yes metabolic disease with pigmentary retinitis (Q55789276) 6
Yes Herpesviridae infectious disease (Q18975237) 6
Yes metabolic disease with corneal opacity (Q55789274) 6
Yes malformation of the neurenteric canal, spinal cord and column (Q55786799) 6
Yes prostate disease (Q18556445) 6
Yes lethal chondrodysplasia (Q55788829) 6
Yes autonomic nervous system disease (Q18554088) 6
Yes syndrome with synostosis or other joint formation defect (Q55788827) 6
Yes familial hyperlipidemia (Q18554145) 6
Yes primary osteolysis (Q55788819) 6
Yes bent bone dysplasia (Q55788810) 6
Yes congenital disorder of glycosylation with epilepsy as a major feature (Q55787880) 6
Yes congenital disorder of glycosylation with cardiac malformation as a major feature (Q55787895) 6
Yes lissencephaly with cerebellar hypoplasia (Q55788668) 6
Yes skin hemangioma (Q18556451) 6
Yes mixed dermis disorder (Q55788599) 6
Yes scleral disease (Q18554064) 6
Yes facial nerve disease (Q18554894) 6
Yes isolated genetic hair shaft abnormality (Q55788586) 6
Yes autoimmune disease of the nervous system (Q18556300) 6
Yes fallopian tube disease (Q18554947) 6
Yes oligosaccharidosis (Q55788568) 6
Yes gallbladder disease (Q5518905) 6
Yes male reproductive organ cancer (Q18556093) 6
Yes polyglandular dysfunction (Q55010679) 6
Yes immunodeficiency due to a complement regulatory deficiency (Q55788287) 6
Yes other genetic dermis disorder (Q55788349) 6
Yes adenocarcinoma (Q356033) 6
Yes chromosome X structural anomaly (Q55789094) 6
Yes idiopathic interstitial pneumonia (Q1790424) 6
Yes genetic macular dystrophy (Q55789238) 6
Yes mood disorder (Q188638) 6
Yes lupus erythematosus (Q188297) 6
Yes joint formation defects (Q55787045) 6
Yes primary systemic mycosis (Q18553244) 6
Yes bacterial pneumonia (Q3776920) 6
Yes female breast cancer (Q18553389) 6
Yes organ system cancer (Q18553400) 6
Yes autoimmune disease of endocrine system (Q18553586) 6
Yes intrinsic cardiomyopathy (Q18553611) 6
Yes syndrome with a symptomatic strabismus (Q55789247) 6
Yes autosomal recessive spastic ataxia (Q55346010) 6
Yes acromesomelic dysplasia (Q18553752) 6
Yes disorder of O-mannosylglycan synthesis (Q55787322) 6
Yes rare otorhinolaryngologic disease (Q55789056) 6
Yes rare eye disease (Q55789046) 6
Yes microcephalic primordial dwarfism (Q55787615) 6
Yes congenital anomaly of superior vena cava (Q55788903) 6
Yes hereditary sensory and autonomic neuropathy (Q3702898) 6
Yes abnormal origin or aberrant course of coronary artery (Q55788901) 6
Yes syndrome with 46,XX disorder of sex development (Q55787628) 6
Yes constitutional neutropenia with extra-hematopoietic manifestations (Q55787695) 6
Yes early-onset partial cataract (Q56014425) 6
Yes inflammatory and autoimmune disease with epilepsy (Q55785633) 6
Yes viral hemorrhagic fever (Q162272) 6
Yes keratoconjunctivitis (Q1623006) 6
Yes T-cell lymphoma (Q7667896) 6
Yes bowel obstruction (Q16244733) 6
Yes hematopoietic system disease (Q1963588) 6
Yes epilepsy (Q41571) 6
Yes inherited renal tumor (Q55785849) 6
Yes functional neutrophil defect (Q55785861) 6
Yes vision disorder (Q767669) 6
Yes hyperaldosteronism (Q1640860) 6
Yes peripheral vascular disease (Q26695607) 6
Yes alopecia (Q2697787) 6
Yes bone inflammation disease (Q1178507) 6
Yes interstitial lung disease (Q1153419) 6
Yes non-paraneoplastic limbic encephalitis (Q55785579) 6
Yes circadian rhythm sleep disorder (Q2712607) 6
Yes allergy (Q42982) 6
Yes autosomal dominant distal myopathy (Q55785936) 6
Yes lung cancer (Q47912) 6
Yes nemaline myopathy (Q1507379) 6
Yes filariasis (Q815753) 6
Yes inherited prion disease (Q16662567) 6
Yes anorectal anomalies (Q4770166) 6
Yes genetic endocrine growth disease (Q55785526) 6
Yes dementia (Q83030) 6
Yes cranial nerve disease (Q5182126) 6
Yes multiple endocrine neoplasia (Q1553018) 6
Yes oropharynx cancer (Q2031424) 6
Yes HFE hereditary haemochromatosis (Q3144934) 6
Yes other rare diabetes mellitus (Q55785796) 6
Yes sexually transmitted infection (Q12198) 6
Yes retinal vascular disease (Q12195125) 6
Yes rare disease with autism (Q55785790) 6
Yes visual impairment (Q737460) 6
Yes urea cycle disorder (Q1585743) 6
Yes non-syndromic urogenital tract malformation of male (Q55785825) 6
Yes uterine cancer (Q1209744) 6
Yes mitochondrial oxidative phosphorylation disorder with no known mechanism (Q55786454) 6
Yes pelvic organ prolapse (Q166102) 6
Yes craniofacial disease (Q5182134) 6
Yes non-syndromic uterovaginal malformation (Q55785748) 6
Yes rare genetic subcutaneous tissue disorder (Q55785836) 6
Yes phakomatosis (Q748376) 6
Yes encephalitis (Q199615) 6
Yes inherited skin tumor (Q55785837) 6
Yes breast disease (Q4959796) 6
Yes pituitary gland disease (Q7199538) 6
Yes retinal degeneration (Q3043268) 6
Yes craniofacial abnormality (Q5182137) 6
Yes cystitis (Q246084) 6
Yes reduction defects of upper limb (Q6000089) 6
Yes nose disease (Q10267828) 6
Yes hyperlipidemia (Q1079120) 6
Yes rickettsiosis (Q646664) 6
Yes pemphigoid (Q881811) 6
Yes distomatosis (Q3030745) 6
Yes predominantly large-vessel vasculitis (Q55785504) 6
Yes rare head and neck malformation (Q55785495) 6
Yes autosomal dominant hereditary demyelinating motor and sensory neuropathy (Q55785419) 6
Yes bilineal acute myeloid leukemia (Q55783213) 6
Yes hypothyroidism, congenital, nongoitrous (Q55762558) 6
Yes familial adenomatous polyposis (Q1369011) 6
Yes hypopituitarism (Q922411) 6
Yes coloboma (Q1462309) 6
Yes agenesis (Q392604) 6
Yes synostosis (Q2141048) 6
Yes genetic motor neuron disease (Q55790454) 6
Yes autosomal dominant intermediate Charcot-Marie-Tooth disease (Q3281252) 6
Yes Charcot-Marie-Tooth disease type 1 (Q3281253) 6
Yes Silver-Russell syndrome (Q2142496) 6
Yes cleft palate (Q3889390) 6
Yes non-syndromic visceral malformation (Q55785330) 6
Yes Charcot-Marie-Tooth disease type X (Q3281260) 6
Yes polymicrogyria (Q2991265) 6
Yes mitochondrial disease with dilated cardiomyopathy (Q55786150) 6
Yes refractive error (Q470427) 6
Yes lysosomal disease with hypertrophic cardiomyopathy (Q55786143) 6
Yes partial deletion of the long arm of chromosome 20 (Q55786627) 6
Yes partial deletion of the long arm of chromosome 14 (Q55786614) 6
Yes cardiomyopathy (Q847583) 6
Yes genetic biliary tract disease (Q55785521) 6
Yes juvenile rheumatoid arthritis (Q861224) 6
Yes Distal hereditary motor neuropathies (Q5282840) 6
Yes isolated craniosynostosis (Q56013709) 6
Yes tremor (Q223907) 6
Yes T-B- severe combined immunodeficiency (Q55787467) 5
Yes peritonitis (Q223102) 5
Yes cleft lip and cleft palate (Q222634) 5
Yes mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes (Q55787305) 5
Yes peripheral neuropathy associated with monoclonal gammopathy (Q55785996) 5
Yes psychosexual disorder (Q7256482) 5
Yes acquired pituitary hormone deficiency (Q55788906) 5
Yes TRPV4-related bone disorder (Q55787813) 5
Yes peripheral retinal degeneration (Q18554249) 5
Yes disorder of protein O-glycosylation (Q55787317) 5
Yes osteosclerosis (Q1233526) 5
Yes pseudohermaphroditism (Q2273662) 5
Yes Localized lipodystrophy (Q6664635) 5
Yes fibromatosis (Q1410851) 5
Yes Localized lichen myxedematosus (Q6664633) 5
Yes myeloid neoplasm (Q18553734) 5
Yes syndrome with hypoparathyroidism (Q55785800) 5
Yes congenital anomaly of the inferior vena cava (Q55788904) 5
Yes polydactyly (Q371520) 5
Yes osteonecrosis (Q503629) 5
Yes encephalocele (Q1346023) 5
Yes calcinosis (Q239027) 5
Yes ocular cancer (Q2420648) 5
Yes lymphoblastic leukemia (Q18553852) 5
Yes color blindness (Q133696) 5
Yes neurogenic arthrogryposis multiplex congenita (Q708165) 5
Yes inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation (Q55787324) 5
Yes otitis media (Q223254) 5
Yes eyelid degenerative disease (Q18553781) 5
Yes cerebral malformation (Q55785902) 5
Yes rare disease with odontological manifestation (Q55789054) 5
Yes anomaly of puberty or/and menstrual cycle of genetic origin (Q55785912) 5
Yes primordial dwarfism (Q2289761) 5
Yes parathyroid gland disease (Q7136145) 5
Yes patellar dysostosis (Q55788824) 5
Yes sucrose intolerance (Q498826) 5
Yes congenital cystic adenomatoid malformation (Q246040) 5
Yes lymphatic system disease (Q6708237) 5
Yes systemic inflammatory disease associated with an acquired peripheral neuropathy (Q55785994) 5
Yes disorder of O-xylosylglycan synthesis (Q55787318) 5
Yes Joubert syndrome and related disorders (Q55345933) 5
Yes microcephaly (Q431643) 5
Yes postinfectious encephalitis (Q11830340) 5
Yes cerebrum cancer (Q18556019) 5
Yes pulmonary hypertension (Q1128595) 5
Yes rare genetic urogenital disease (Q55785523) 5
Yes bile duct disease (Q18556206) 5
Yes sterol biosynthesis disorder (Q55788560) 5
Yes beta thalassemia (Q3616632) 5
Yes nasal cavity disease (Q18555020) 5
Yes aplastic anemia (Q846316) 5
Yes chronic inflammatory demyelinating polyradiculoneuropathy (Q1088030) 5
Yes Gaucher's disease (Q861645) 5
Yes cellulitis (Q876887) 5
Yes oblique facial cleft (Q55785461) 5
Yes median facial cleft (Q55785459) 5
Yes tetrasomy (Q906664) 5
Yes human disease (Q104477483) 5
Yes growth hormone insensitivity syndrome (Q47455810) 5
Yes genetic female infertility (Q55788067) 5
Yes acquired polycythemia (Q18555212) 5
Yes congenital intestinal disease due to an enzymatic defect (Q55785308) 5
Yes congenital enteropathy involving intestinal mucosa development (Q55785309) 5
Yes perinatal infectious disease (Q9386039) 5
Yes syndrome with limb malformations as a major feature (Q55785343) 5
Yes syndromic respiratory or mediastinal malformation (Q55785340) 5
Yes germ cell cancer (Q18555254) 5
Yes rare maxillo-facial surgical disease (Q55788454) 5
Yes hemic system symptom (Q102186671) 5
Yes eye symptom (Q102186610) 5
Yes isolated constitutional thrombocytopenia (Q55788347) 5
Yes syndromic constitutional thrombocytopenia (Q55788346) 5
Yes glossopharyngeal nerve disease (Q18555926) 5
Yes rare disease with malignant hyperthermia (Q55788310) 5
Yes type 1 interferonopathy (Q55788332) 5
Yes T cell deficiency (Q7672692) 5
Yes malaria (Q12156) 5
Yes rectal disease (Q18554389) 5
Yes short rib dysplasia (Q55788803) 5
Yes filamin-related bone disorder (Q55788802) 5
Yes disorder of medulla oblongata (Q55785277) 5
Yes brain inflammatory disease (Q55785279) 5
Yes undifferentiated carcinoma (Q3658394) 5
Yes stomach carcinoma (Q3658392) 5
Yes congenital disorder of glycosylation-related bone disorder (Q55787913) 5
Yes sweat gland disease (Q18554617) 5
Yes demyelinating disease (Q1186703) 5
Yes sphingolipidosis with epilepsy (Q55787921) 5
Yes thyroiditis (Q11835644) 5
Yes rare genetic disease (Q55789522) 5
Yes coccidiosis (Q487837) 5
Yes fetal anticonvulsant syndrome (Q55787831) 5
Yes respiratory failure (Q767485) 5
Yes secondary neonatal autoimmune disease (Q55787988) 5
Yes immune deficiency with skin involvement (Q55788607) 5
Yes gonococcal infectious diseases (Q26695958) 5
Yes genetic pancreatic disease (Q55785598) 5
Yes autoimmune disease of cardiovascular system (Q4826340) 5
Yes porphyria (Q271759) 5
Yes foodborne illness (Q272002) 5
Yes type IV hypersensitivity (Q7860879) 5
Yes female infertility due to an implantation defect (Q55788056) 5
Yes other genetic epidermal disease (Q55788581) 5
Yes rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin (Q55788062) 5
Yes candidiasis (Q273510) 5
Yes sex differentiation disease (Q18554938) 5
Yes cestodosis (Q4505372) 5
Yes chromosome 10 anomaly (Q56742460) 5
Yes pseudohypoaldosteronism type 2 (Q56014268) 5
Yes Leigh disease (Q1815019) 5
Yes rare disease with thoracic aortic aneurysm and aortic dissection (Q55786976) 5
Yes periodontitis (Q520127) 5
Yes hypotrichosis (Q1641483) 5
Yes skin cancer (Q192102) 5
Yes facial cleft (Q5428558) 5
Yes disorder of lysine and hydroxylysine metabolism (Q55787002) 5
Yes Fatty-acid metabolism disorder (Q5437988) 5
Yes mucolipidosis (Q1952032) 5
Yes Pelizaeus-Merzbacher disease (Q1876206) 5
Yes syndromic palpebral coloboma (Q55789161) 5
Yes nerve compression syndrome (Q1978084) 5
Yes fasciitis (Q1870975) 5
Yes catecholaminergic polymorphic ventricular tachycardia (Q1649897) 5
Yes rare eye disease due to a differentiation anomaly (Q55789154) 5
Yes dysostosis with combined reduction defects of upper and lower limbs (Q55787047) 5
Yes waterborne disease (Q2006636) 5
Yes lymph node disease (Q18558262) 5
Yes arteriovenous malformation (Q1584110) 5
Yes streptococcal infection (Q5849703) 5
Yes syphilis (Q41083) 5
Yes autosomal recessive congenital cerebellar ataxia (Q55346091) 5
Yes alpha granule disease (Q55789132) 5
Yes Megaureter (Q1547111) 5
Yes hypolipoproteinemia (Q5959735) 5
Yes dental pulp disease (Q3368715) 5
Yes Inherited giant platelet disorder (Q5989203) 5
Yes infancy electroclinical syndrome (Q18553413) 5
Yes syndrome with a Dandy-Walker malformation as major feature (Q55786836) 5
Yes neuronal migration disorder (Q17146964) 5
Yes Y chromosome number anomaly (Q55786719) 5
Yes peroxisomal disease (Q3281322) 5
Yes poisoning by drugs (Q387175) 5
Yes hematologic cancer (Q18975047) 5
Yes partial monosomy of the short arm of chromosome X (Q55786718) 5
Yes perinatal disease (Q18968218) 5
Yes X chromosome number anomaly with male phenotype (Q55786715) 5
Yes osteopetrosis (Q1755568) 5
Yes rubella virus infectious disease (Q19000421) 5
Yes Pierre Robin syndrome (Q1756040) 5
Yes ear disease (Q5325633) 5
Yes trigonocephaly (Q1760294) 5
Yes congenital anemia (Q18967566) 5
Yes laryngeal disease (Q18557753) 5
Yes congenital hypothyroidism (Q531012) 5
Yes congestive heart failure (Q19000661) 5
Yes inherited digestive tract tumor (Q55786847) 5
Yes disorder of sex development (Q5282521) 5
Yes paraphilia (Q178059) 5
Yes hereditary optic neuropathy (Q55789244) 5
Yes hereditary stomatocytosis (Q3973817) 5
Yes Giant platelet disorder (Q5558486) 5
Yes conjunctivitis (Q167844) 5
Yes systemic diseases with anterior uveitis (Q55786944) 5
Yes degeneration of macula and posterior pole (Q16678480) 5
Yes psoriasis (Q179945) 5
Yes Beckwith-Wiedemann syndrome (Q521863) 5
Yes rare parkinsonian syndrome due to genetic neurodegenerative disease (Q55787260) 5
Yes spondyloepiphyseal dysplasia with congenital joint dislocations (Q18553493) 5
Yes genetic non-syndromic obesity (Q55789104) 5
Yes lymphoma (Q208414) 5
Yes oculomotor apraxia (Q2074059) 5
Yes amino acid or protein metabolism disease with epilepsy (Q55786194) 5
Yes genetic vascular disease (Q55786280) 5
Yes hereditary poikiloderma (Q55786182) 5
Yes metabolic neurotransmission anomaly with epilepsy (Q55786199) 5
Yes pyrimidine metabolic disorder (Q18553504) 5
Yes Zellweger spectrum disorder (Q51250082) 5
Yes hospital-acquired infection (Q215509) 5
Yes miscellaneous movement disorder due to genetic neurodegenerative disease (Q55787261) 5
Yes amyotrophic lateral sclerosis (Q206901) 5
Yes Hodgkin lymphoma (Q209369) 5
Yes ascending cholangitis (Q603644) 5
Yes focal dystonia (Q1428695) 5
Yes sebaceous gland disease (Q18558062) 5
Yes central nervous system viral disease (Q5062121) 5
Yes Niemann-Pick disease (Q1419931) 5
Yes collagen disease (Q1446169) 5
Yes nephrotic syndrome (Q504790) 5
Yes chronic leukemia (Q5113979) 5
Yes Crohn's disease (Q1472) 5
Yes acyl-CoA dehydrogenase deficiency (Q55787302) 5
Yes autoimmune disease of peripheral nervous system (Q18553610) 5
Yes partial duplication of the short arm of chromosome 16 (Q55786658) 4
Yes corneal endothelial dystrophy (Q21154083) 4
Yes salmonellosis (Q326648) 4
Yes arthrogryposis (Q55223313) 4
Yes infectious myositis (Q18967319) 4
Yes genetic cardiac anomaly (Q55786850) 4
Yes urinary system cancer (Q18556141) 4
Yes fetal lower urinary tract obstruction (Q55788175) 4
Yes retinal artery occlusion (Q18557950) 4
Yes partial deletion of the long arm of chromosome 17 (Q55786617) 4
Yes bronchospasm (Q279330) 4
Yes disorder of multiple glycosylation (Q55787325) 4
Yes muscle tissue disease (Q18557307) 4
Yes epithelial-stromal TGFBI dystrophy (Q21154081) 4
Yes partial deletion of the long arm of chromosome 8 (Q55786609) 4
Yes partial deletion of the long arm of chromosome 7 (Q55786608) 4
Yes autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency (Q55787487) 4
Yes qualitative or quantitative defects of titin (Q55786010) 4
Yes central congenital hypothyroidism (Q55786205) 4
Yes rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin (Q55788068) 4
Yes hematological disease of fetus and newborn (Q19001385) 4
Yes developmental dislocation of joint (Q18966410) 4
Yes atypical progressive supranuclear palsy syndrome (Q55346109) 4
Yes partial deletion of the long arm of chromosome 3 (Q55786605) 4
Yes kidney cancer (Q3242950) 4
Yes congenital physical abnormality (Q3281904) 4
Yes autosomal dominant optic atrophy (Q29982071) 4
Yes non-syndromic intestinal malformation (Q55785328) 4
Yes gestational trophoblastic disease (Q3433884) 4
Yes fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy (Q55786145) 4
Yes lethal multiple congenital anomalies/dysmorphic syndrome (Q55788292) 4
Yes primary interstitial lung disease specific to childhood due to alveolar vascular disorder (Q55786732) 4
Yes primary interstitial lung disease specific to adulthood (Q55786742) 4
Yes disorder of fatty acid oxidation and ketogenesis (Q55787301) 4
Yes inborn errors of purine–pyrimidine metabolism (Q3281375) 4
Yes horse disease (Q29568408) 4
Yes hereditary epidermolysis bullosa associated with ocular features (Q55786711) 4
Yes partial duplication of the long arm of chromosome 17 (Q55786693) 4
Yes otopalatodigital syndrome spectrum disorder (Q3281416) 4
Yes vitamin B12 deficiency anemia (Q32786207) 4
Yes acute disease (Q557429) 4
Yes multiple polyglandular tumor (Q55785235) 4
Yes complex vascular malformation with associated anomalies (Q55786077) 4
Yes alpha thalassemia (Q288714) 4
Yes congenital systemic veins anomaly (Q55787293) 4
Yes neoplasm of body of uterus (Q19000469) 4
Yes rare capillary malformation with associated anomalies (Q55788279) 4
Yes lymphadenitis (Q3269466) 4
Yes autosomal recessive distal hereditary motor neuropathy (Q55785423) 4
Yes intestinal disease due to fat malabsorption (Q55785307) 4
Yes chronic cutaneous lupus erythematosus (Q55785567) 4
Yes cranial nerve palsy (Q18556080) 4
Yes Bunyaviridae infectious disease (Q18967528) 4
Yes pyoderma (Q2119633) 4
Yes lipid storage disease (Q3540902) 4
Yes congenital urachal anomaly (Q55788182) 4
Yes partial duplication of the short arm of chromosome 17 (Q55786659) 4
Yes pure hereditary spastic paraplegia (Q55345930) 4
Yes Turner syndrome (Q202849) 4
Yes rare hypothalamic or pituitary disease (Q55785797) 4
Yes inherited nervous system cancer-predisposing syndrome (Q55786407) 4
Yes chronic progressive external ophthalmoplegia (Q2026857) 4
Yes lip disease (Q18558095) 4
Yes rare vulvovaginal tumor (Q55785788) 4
Yes maternally-inherited mitochondrial myopathy (Q55786434) 4
Yes oculocutaneous albinism (Q2017741) 4
Yes hypogonadotropic hypogonadism associated with other endocrinopathies (Q55785799) 4
Yes autosomal recessive degenerative and progressive cerebellar ataxia (Q55346094) 4
Yes urological symptom (Q2565950) 4
Yes frontotemporal dementia (Q18592) 4
Yes neurodegenerative disease with dementia (Q55346096) 4
Yes immunodeficiency syndrome with autoimmunity (Q55785658) 4
Yes isolated growth hormone deficiency (Q32136616) 4
Yes non-syndromic esophageal malformation (Q55785324) 4
Yes nasopharyngeal disease (Q18558167) 4
Yes primary bone dysplasia with micromelia (Q55787807) 4
Yes Guillain–Barré syndrome (Q205214) 4
Yes functioning pituitary adenoma (Q18556775) 4
Yes constitutional deficiency anemia (Q55786337) 4
Yes benign mammary dysplasia (Q18558146) 4
Yes inherited syndrome with bone tumors as a major feature (Q55785845) 4
Yes acute encephalopathy with inflammation-mediated status epilepticus (Q55787790) 4
Yes genetic photodermatosis (Q55785838) 4
Yes histiocytic and dendritic cell cancer (Q18556903) 4
Yes intracranial hypertension (Q18558125) 4
Yes rare hemorrhagic disorder due to an acquired platelet anomaly (Q55786343) 4
Yes pneumothorax (Q203601) 4
Yes tumor of hematopoietic and lymphoid tissues (Q2509220) 4
Yes rare neuroinflammatory disease (Q55785812) 4
Yes rare thrombotic disorder due to an acquired coagulation factors defect (Q55786346) 4
Yes uterine malformation (Q2034363) 4
Yes pure or complex X-linked spastic paraplegia (Q55346015) 4
Yes substance dependence (Q3378593) 4
Yes salivary gland cancer (Q18558026) 4
Yes vitamin deficiency (Q194435) 4
Yes xeroderma pigmentosum-Cockayne syndrome complex (Q55345957) 4
Yes Q18556397 4
Yes Stickler syndrome (Q2288646) 4
Yes partial deletion of the short arm of chromosome 16 (Q55786597) 4
Too many results. 3502 items skipped
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