Anterior segment dysgenesis 6

Preferred Label : Anterior segment dysgenesis 6;

Symbol : ASGD6;

CISMeF acronym : ASGD6;

Type : Phenotype, molecular basis known;

Prefixed ID : #617315;

Détails

Origin ID

617315;

UMLS CUI

C4310623;

Automatic exact mappings (from CISMeF team)
- anterior segment dysgenesis 6 [DO Concept]
DO Cross reference
- anterior segment dysgenesis 6 [DO Concept]
Genes related to phenotype
- Cytochrome p450, subfamily I, polypeptide 1 [OMIM gene]
HPO term(s)
- Abnormal Descemet membrane morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Corneal neovascularization [HPO term]
- Corneal opacity [HPO term]
- Developmental glaucoma [HPO term]
- Posterior synechiae of the anterior chamber [HPO term]
ORDO concept(s)
- Anterior segment developmental anomaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients