Retinitis pigmentosa 37

Preferred Label : Retinitis pigmentosa 37;

Symbol : RP37;

CISMeF acronym : RP37;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 2, group E, member 3 gene (NR2E3, 604485.0006);

Prefixed ID : #611131;

Détails

Origin ID

611131;

UMLS CUI

C1970163;

Automatic exact mappings (from CISMeF team)
- nuclear receptor subfamily 2 group E member 3 [ORDO Gene]
- nuclear receptor subfamily 2 group E member 3 [HGNC gene]
Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 37 [DO Concept]
- retinitis pigmentosa 37 [MeSH concept]
- retinitis pigmentosa 37 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 37 [DO Concept]
Genes related to phenotype
- Nuclear receptor subfamily 2, group e, member 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cystoid macular degeneration [HPO term]
- Nyctalopia [HPO term]
- Photophobia [HPO term]
- Pigmentary retinopathy [HPO term]
- Red-green dyschromatopsia [HPO term]
- Rod-cone dystrophy [HPO term]
- Tritanomaly [HPO term]
- Undetectable light- and dark-adapted electroretinogram [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 37 [MeSH Supplementary Concept]
- retinitis pigmentosa 37 [MeSH concept]
- retinitis pigmentosa 37 [DO Concept]

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

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