Pigmented paravenous chorioretinal atrophy

Preferred Label : Pigmented paravenous chorioretinal atrophy;

Symbol : PPCRA;

CISMeF acronym : PPCRA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant vs. X-linked;

Prefixed ID : #172870;

Details

Origin ID

172870;

UMLS CUI

C1868310;

Currated CISMeF NLP mapping
- Paravenous chorioretinal atrophy [HPO term]
- Pigmented paravenous retinochoroidal atrophy [ORDO Disease]
- Pigmented paravenous retinochoroidal atrophy (disorder) [SNOMED CT concept]
- pigmented paravenous chorioretinal atrophy [DO Concept]
- pigmented paravenous chorioretinal atrophy [MeSH concept]
- pigmented paravenous chorioretinal atrophy [MeSH Supplementary Concept]
DO Cross reference
- pigmented paravenous chorioretinal atrophy [DO Concept]
Genes related to phenotype
- Crumbs cell polarity complex component 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bone corpuscle fundus pigmentation [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Esotropia [HPO term]
- Hypermetropia [HPO term]
- Paravenous chorioretinal atrophy [HPO term]
- Vitreoretinopathy [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Pigmented paravenous retinochoroidal atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pigmented paravenous retinochoroidal atrophy [ORDO Disease]
- Pigmented paravenous retinochoroidal atrophy (disorder) [SNOMED CT concept]
- pigmented paravenous chorioretinal atrophy [MeSH Supplementary Concept]
- pigmented paravenous chorioretinal atrophy [MeSH concept]
- pigmented paravenous chorioretinal atrophy [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients