Retinitis pigmentosa 42

Preferred Label : Retinitis pigmentosa 42;

Symbol : RP42;

CISMeF acronym : RP42;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the kelch-like 7 gene (KLHL7, 611119.0001);

Prefixed ID : #612943;

Détails

Origin ID

612943;

UMLS CUI

C2751986;

Automatic exact mappings (from CISMeF team)
- DCUN1D1 wt Allele [NCIt concept]
- defective in cullin neddylation 1 domain containing 1 [HGNC gene]
- kelch like family member 7 [ORDO Gene]
- kelch like family member 7 [HGNC gene]
Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 42 [DO Concept]
- retinitis pigmentosa 42 [MeSH concept]
- retinitis pigmentosa 42 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 42 [DO Concept]
Genes related to phenotype
- Kelch-like 7 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Pallor [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 42 [MeSH Supplementary Concept]
- retinitis pigmentosa 42 [MeSH concept]
- retinitis pigmentosa 42 [DO Concept]

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

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