Diko : en:coloboma of macula with type b brachydactyly

en:coloboma of macula with type b brachydactyly

Catégories

Nom

Informations lexicales

Langue:anglais

Variantes

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en:coloboma of macula with type B brachydactyly

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en:coloboma of macula with type B brachydactyly

Définitions

Colobome maculaire hyperpigmenté, donnant un aspect de toxoplasmose maculaire bilatérale, associé à des anomalies des doigts. [Dictionnaire médical de l'Académie de Médecine]

Liens externes

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umls:C1852752

Associations d'idées

[F]

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Sorsby

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colobome maculaire avec brachydactylie de type B

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en:coloboma of the eye

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en:brachydactyly

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en:coloboma

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

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en:acro-pectoro-renal dysplasia

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en:hyperinsulinism due to uncoupling protein 2 deficiency

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en:spinocerebellar ataxia type 37

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en:spinocerebellar ataxia type 32

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en:17q11.2 microduplication syndrome

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en:persistent mullerian derivative with lymphangiectasia and polydactyly syndrome

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en:glaucoma and sleep apnea syndrome

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en:aphalangy and syndactyly with microcephaly syndrome

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en:ectodermal dysplasia with blindness syndrome

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en:autosomal dominant charcot-marie-tooth disease type 2m

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en:hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome

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en:timothy syndrome type 2

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en:morava mehes syndrome

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en:autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome

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en:ehlers-danlos syndrome vascular-like type

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en:hereditary sensory and autonomic neuropathy type 1b

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en:congenital cataract with ataxia and deafness syndrome

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en:short fifth metacarpal insulin resistance syndrome

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en:cardiac anomaly and heterotaxy syndrome

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en:deafness and myopia syndrome

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en:dyschondrosteosis and nephritis syndrome

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en:craniosynostosis with facial dysmorphism and brachydactyly syndrome

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en:robinow-like syndrome

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en:hyperinsulinism due to insulin receptor deficiency

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en:hyperinsulinism due to hnf1a deficiency

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en:autosomal dominant focal dystonia dyt25 type

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en:tubular renal disease with cardiomyopathy syndrome

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colobome de l'oeil

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en:cataract glaucoma syndrome

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en:aniridia and intellectual disability syndrome

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en:fibular dimelia diplopodia syndrome

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brachydactylie

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rétinite pigmentaire paraveineuse

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en:tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome

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en:corneal dystrophy, subepithelial mucinous

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en:metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

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

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en:polydactyly, preaxial ii (disorder)

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en:pigmented paravenous chorioretinal atrophy

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en:mental retardation spasticity ectrodactyly

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en:epiphyseal dysplasia, multiple, 2

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en:bethlem myopathy 1

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en:piussan lenaerts mathieu syndrome

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en:hirschsprung disease with type d brachydactyly syndrome

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en:gracile bone dysplasia

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en:yemenite deaf-blind hypopigmentation syndrome

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en:diffuse palmoplantar keratoderma and acrocyanosis syndrome

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en:preaxial deficiency, postaxial polydactyly and hypospadias

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en:heart defects limb shortening

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en:cleidorhizomelic syndrome

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en:manouvrier syndrome

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

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en:czech dysplasia, metatarsal type

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en:anonychia-onychodystrophy with hypoplasia or absence of distal phalanges

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en:hyperuricemia, anemia, renal failure syndrome

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en:primary pigmented nodular adrenocortical disease

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en:autosomal dominant beta2-microglobulinic amyloidosis

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en:autosomal dominant palmoplantar keratoderma and congenital alopecia

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en:brachytelephalangy, facial dysmorphism, kallmann syndrome

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en:absence of fingerprints with congenital milia syndrome

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en:congenital microgastria with limb reduction defect syndrome

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colobome oculaire

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