Retinitis pigmentosa 4

Preferred Label : Retinitis pigmentosa 4;

Symbol : RP4;

CISMeF acronym : RP4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinitis pigmentosa, rhodopsin-related;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the rhodopsin gene (RHO, 180380.0001);

Prefixed ID : #613731;

Détails

Origin ID

613731;

UMLS CUI

C3151001;

Automatic exact mappings (from CISMeF team)
- RHO wt Allele [NCIt concept]
- symbol withdrawn RP4 [HGNC gene]
Currated CISMeF NLP mapping
- retinitis pigmentosa 4 [DO Concept]
- retinitis pigmentosa 4 [MeSH concept]
- retinitis pigmentosa 4 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 4 [DO Concept]
Genes related to phenotype
- Rhodopsin [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cataract [HPO term]
- Nyctalopia [HPO term]
- Pigmentary retinopathy [HPO term]
- Rod-cone dystrophy [HPO term]
- Visual field defect [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 4 [MeSH Supplementary Concept]
- retinitis pigmentosa 4 [MeSH concept]
- retinitis pigmentosa 4 [DO Concept]

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

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