Retinitis pigmentosa 7

Preferred Label : Retinitis pigmentosa 7;

Symbol : RP7;

CISMeF acronym : LCA18; RP7;

Type : Phenotype, molecular basis known;

Included titles and symbols : Retinitis pigmentosa 7, digenic; Leber congenital amaurosis 18; LCA18;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the peripherin 2 gene (PRPH2, 179605.0001);

Prefixed ID : #608133;

Détails

Origin ID

608133;

UMLS CUI

C1842475;

Automatic exact mappings (from CISMeF team)
- retinitis pigmentosa 7, digenic [MeSH concept]
- retinitis pigmentosa 7, digenic [MeSH Supplementary Concept]
- symbol withdrawn RP7 [HGNC gene]
Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 7 [DO Concept]
- retinitis pigmentosa 7 [MeSH concept]
- retinitis pigmentosa 7 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 7 [DO Concept]
Genes related to phenotype
- Peripherin 2 [OMIM gene]
- Rod outer segment protein 1 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Adult-onset night blindness [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chorioretinal atrophy [HPO term]
- Constriction of peripheral visual field [HPO term]
- Nyctalopia [HPO term]
- Pigmentary retinopathy [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 7 [MeSH Supplementary Concept]
- retinitis pigmentosa 7 [MeSH concept]
- retinitis pigmentosa 7 [DO Concept]

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

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