Anterior segment dysgenesis 7

Preferred Label : Anterior segment dysgenesis 7;

Symbol : ASGD7;

CISMeF acronym : ASGD7; COPOA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Corneal opacification with other ocular anomalies; Sclerocornea with other ocular anomalies; COPOA;

Description : Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized (summary by Elliott et al., 1985).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peroxidasin gene (PXDN, 605158.0001);

Prefixed ID : #269400;

Détails

Origin ID

269400;

UMLS CUI

C3151617;

Automatic exact mappings (from CISMeF team)
- Congenital cataract microcornea with corneal opacity [ORDO Disease]
- anterior segment dysgenesis 7 [DO Concept]
CISMeF manual mappings
- anterior segment dysgenesis [DO Concept]
DO Cross reference
- anterior segment dysgenesis 7 [DO Concept]
Genes related to phenotype
- Peroxidasin [OMIM gene]
HPO term(s)
- Abnormality of the outer ear [HPO term]
- Autosomal recessive inheritance [HPO term]
- Buphthalmos [HPO term]
- Cataract [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Ocular anterior segment dysgenesis [HPO term]
- Ocular hypertension [HPO term]
- Sclerocornea [HPO term]
ORDO concept(s)
- Congenital cataract microcornea with corneal opacity [ORDO Disease]
See also inter- (CISMeF)
- Isolated congenital sclerocornea [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- anterior segment dysgenesis [DO Concept]

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

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