Retinitis pigmentosa 47

Preferred Label : Retinitis pigmentosa 47;

Symbol : RP47;

CISMeF acronym : RP47;

Type : Phenotype, molecular basis known;

Prefixed ID : #613758;

Détails

Origin ID

613758;

UMLS CUI

C3151061;

Automatic exact mappings (from CISMeF team)
- S-antigen visual arrestin [ORDO Gene]
- S-antigen visual arrestin [HGNC gene]
Currated CISMeF NLP mapping
- retinitis pigmentosa 47 [DO Concept]
DO Cross reference
- retinitis pigmentosa 47 [DO Concept]
Genes related to phenotype
- S-antigen [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chorioretinal atrophy [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Nyctalopia [HPO term]
- Pigmentary retinopathy [HPO term]
- Rod-cone dystrophy [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 47 [DO Concept]

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

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