Choroidal dystrophy, central areolar 2

Preferred Label : Choroidal dystrophy, central areolar 2;

Symbol : CACD2;

CISMeF acronym : CACD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macular dystrophy, progressive;

Description : Central areolar choroidal dystrophy (CACD) is a hereditary disorder of the macula leading to a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris (Hoyng et al., 1996).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the mouse peripherin 2 gene (PRPH2, 179605.0021);

Prefixed ID : #613105;

Details

Origin ID

613105;

UMLS CUI

C2751290;

Automatic exact mappings (from CISMeF team)
- Progressive macular dystrophy [HPO term]
Currated CISMeF NLP mapping
- choroidal dystrophy, central areolar 2 [MeSH concept]
- choroidal dystrophy, central areolar 2 [MeSH Supplementary Concept]
DO Cross reference
- partial central choroid dystrophy [DO Concept]
Genes related to phenotype
- Peripherin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chorioretinal atrophy [HPO term]
- Photophobia [HPO term]
ORDO concept(s)
- Central areolar choroidal dystrophy [ORDO Disease]
See also inter- (CISMeF)
- peripherin 2 [ORDO Gene]
- peripherin 2 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- choroidal dystrophy, central areolar 2 [MeSH Supplementary Concept]
- choroidal dystrophy, central areolar 2 [MeSH concept]
Validated automatic mappings to NTBT
- Central areolar choroidal dystrophy [ORDO Disease]

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