Retinitis pigmentosa 62

Preferred Label : Retinitis pigmentosa 62;

Symbol : RP62;

CISMeF acronym : RP62;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the male germ cell-associated kinase gene (MAK, 154235.0001);

Prefixed ID : #614181;

Details

Origin ID

614181;

UMLS CUI

C3280042;

Automatic exact mappings (from CISMeF team)
- male germ cell associated kinase [ORDO Gene]
- male germ cell associated kinase [HGNC gene]
Currated CISMeF NLP mapping
- retinitis pigmentosa 62 [DO Concept]
DO Cross reference
- retinitis pigmentosa 62 [DO Concept]
Genes related to phenotype
- Male germ cell-associated kinase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Rod-cone dystrophy [HPO term]
- Visual field defect [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 62 [DO Concept]

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