Foveal hypoplasia 1

Preferred Label : Foveal hypoplasia 1;

Symbol : FVH1;

CISMeF acronym : FVH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract;

Description : Foveal hypoplasia, with its sequelae of subnormal visual acuity and congenital nystagmus, is usually a feature of a recognized ocular disorder such as albinism (203100) or aniridia (106210).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired box homeotic gene 6 (PAX6, 607108.0012);

Prefixed ID : #136520;

Détails

Origin ID

136520;

UMLS CUI

C3805604;

Automatic exact mappings (from CISMeF team)
- Foveal hypoplasia-presenile cataract syndrome [ORDO Disease]
- O'Donnell Pappas syndrome [MeSH concept]
- O'Donnell pappas syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Paired box gene 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital nystagmus [HPO term]
- Hypoplasia of the fovea [HPO term]
- Presenile cataracts [HPO term]
- Subnormal visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Foveal hypoplasia-presenile cataract syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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