Diko : en:ectodermal dysplasia with blindness syndrome

en:ectodermal dysplasia with blindness syndrome

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

Liens externes

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umls:CL518509

Associations d'idées

[F]

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50+

en:x-linked intellectual disability stevenson type

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en:kaplan plauchu fitch syndrome

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en:deafness and myopia syndrome

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en:combined d-2- and l-2-hydroxyglutaric aciduria

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en:sulfite oxidase deficiency

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en:atkin syndrome

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en:cardiomyopathy dilated with woolly hair and keratoderma

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en:hair defect with photosensitivity and mental retardation

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en:hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

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en:scott bryant graham syndrome

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en:congenital cyst of posterior segment of eye

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en:congenital cystic eyeball

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en:jaundice, chronic idiopathic

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en:myopathy with exercise intolerance, swedish type

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en:primary immunodeficiency syndrome due to p14 deficiency

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en:orofaciodigital syndrome 5

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en:isaacs syndrome

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en:anophthalmos of right eye

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en:orotic aciduria

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en:unspecified mental retardation; significant impairment of behaviour requiring attention or treatment

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en:anophthalmos

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en:cask related intellectual disability

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en:glutamate formiminotransferase deficiency

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en:cayler cardiofacial syndrome

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en:crome syndrome

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en:kosztolanyi syndrome

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en:autosomal dominant cystoid macular edema

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en:alpha, alpha-trehalase deficiency

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en:congenital pontocerebellar hypoplasia type 3

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en:hyperargininemia

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en:alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

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en:cahmr syndrome

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en:mammary-digital-nail syndrome

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en:miller-mckusick-malvaux-syndrome (3m syndrome)

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en:ectopia lentis with ectopia of pupil

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en:hypomagnesemia 5, renal, with ocular involvement

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en:hernandez aguirre-negrete syndrome

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en:kallman syndrome with heart disease

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en:congenital reticular ichthyosiform erythroderma

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en:phenylketonuria ii

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en:hereditary sensory and autonomic neuropathy with deafness and global delay

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en:factor xi deficiency

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en:epidermodysplasia verruciformis

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en:diaphragmatic defect, limb deficiency, skull defect syndrome

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en:brachymorphism-onychodysplasia-dysphalangism syndrome

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en:jervell-lange nielsen syndrome

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en:bixler christian gorlin syndrome

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en:mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency

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en:plagiocephaly and x-linked mental retardation

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en:abnormal eye physiology

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50+

en:brachioskeletogenital syndrome

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en:acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein

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en:moyamoya disease with early onset achalasia

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en:congenital cataract with ataxia and deafness syndrome

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en:dysmorphism, pectus carinatum, joint laxity syndrome

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en:x-linked intellectual disability seemanova type

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rétinite pigmentaire paraveineuse

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en:autosomal dominant palmoplantar keratoderma and congenital alopecia

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en:pigmented paravenous chorioretinal atrophy

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en:renal dysplasia - limb defects syndrome

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en:non-androgenic hypertrichosis with genetic disease

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en:anauxetic dysplasia

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en:palmoplantar keratoderma, 46,xx sex reversal, predisposition to squamous cell carcinoma syndrome

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en:acro-dermato-ungual-lacrimal-tooth syndrome

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en:dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

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en:congenital disorder of glycosylation type 2e

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en:arterial dissection and lentiginosis syndrome

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en:hypertrichosis and acromegaloid facial appearance syndrome

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en:congenital disorder of glycosylation type id

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en:insulin growth factor i deficiency

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en:disorder of eye co-occurrent and due to marfan syndrome

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en:short stature syndrome, brussels type

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en:yemenite deaf-blind hypopigmentation syndrome

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en:17q11.2 microduplication syndrome

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en:hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome

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en:aniridia, ptosis, intellectual disability, familial obesity syndrome

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en:trisomy xq28 syndrome

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en:primary immunodeficiency syndrome due to p14 deficiency

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en:zellweger-like syndrome without peroxisomal anomaly

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en:x-linked intellectual disability van esch type

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en:generalized peeling skin syndrome

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en:familial malignant melanoma of skin

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en:bamforth syndrome

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en:absence of fingerprints with congenital milia syndrome

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en:adducted thumbs and arthrogryposis syndrome christian type

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en:glaucoma and sleep apnea syndrome

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en:x-linked intellectual disability stevenson type

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en:lissencephaly type 3 familial fetal akinesia sequence syndrome

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en:hypomandibular faciocranial dysostosis

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en:adhesion of ciliary body

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en:brain calcification rajab type

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en:pterygium colli mental retardation digital anomalies

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en:fountain syndrome

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en:kosztolanyi syndrome

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en:diffuse palmoplantar keratoderma and acrocyanosis syndrome

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en:familial median cleft of upper and lower lip

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en:1p21.3 microdeletion syndrome

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en:basal epidermolysis bullosa simplex

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en:braddock syndrome

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en:deafness and myopia syndrome

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Génériques

[F] [H]

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en:ectodermal dysplasia

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9102902 • caches: c1=82 c2=370 c3=1169

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