retinitis pigmentosa 46

Preferred Label : retinitis pigmentosa 46;

MeSH note : mutations in IDH3B; aka RP46;

MeSH synonym : retinitis pigmentosa, autosomal recessive, Idh3b-Related;

Details

Origin ID

C567249;

UMLS CUI

C2675496;

Currated CISMeF NLP mapping
- Retinitis pigmentosa 46 [OMIM Phenotype]
- retinitis pigmentosa 46 [DO Concept]
MeSH term(s) associated for indexing
- retinitis pigmentosa [MeSH Descriptor]
Record concept(s)
- retinitis pigmentosa 46 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinitis pigmentosa 46 [OMIM Phenotype]
- retinitis pigmentosa 46 [DO Concept]

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