Chorioretinal atrophy, progressive bifocal

Preferred Label : Chorioretinal atrophy, progressive bifocal;

Symbol : PBCRA;

CISMeF acronym : CRAPB; PBCRA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progressive bifocal chorioretinal atrophy;

Inheritance : Autosomal dominant (6q);

Prefixed ID : #600790;

Details

Origin ID

600790;

UMLS CUI

C1833321;

Automatic exact mappings (from CISMeF team)
- Progressive bifocal chorioretinal atrophy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Chorioretinal atrophy, progressive bifocal [MeSH concept]
- Progressive bifocal chorioretinal atrophy [ORDO Disease]
- Progressive bifocal chorioretinal atrophy (disorder) [SNOMED CT concept]
- chorioretinal atrophy, progressive bifocal [MeSH Supplementary Concept]
- obsolete Progressive bifocal chorioretinal atrophy [HPO term]
Genes related to phenotype
- Dnase1 hypersensitivity, chromosome 6, site 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chorioretinal atrophy [HPO term]
- Chorioretinal dystrophy [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Retinal detachment [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Progressive bifocal chorioretinal atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chorioretinal atrophy, progressive bifocal [MeSH concept]
- Progressive bifocal chorioretinal atrophy [ORDO Disease]
- Progressive bifocal chorioretinal atrophy (disorder) [SNOMED CT concept]
- chorioretinal atrophy, progressive bifocal [MeSH Supplementary Concept]
- obsolete Progressive bifocal chorioretinal atrophy [HPO term]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients