Retinitis pigmentosa 26

Preferred Label : Retinitis pigmentosa 26;

Symbol : RP26;

CISMeF acronym : RP26;

Type : Phenotype, molecular basis known;

Prefixed ID : #608380;

Details

Origin ID

608380;

UMLS CUI

C1842127;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 26 [DO Concept]
- retinitis pigmentosa 26 [Disease (Nov.)]
- retinitis pigmentosa 26 [MeSH concept]
- retinitis pigmentosa 26 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 26 [DO Concept]
Genes related to phenotype
- Ceramide kinase-like [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Constriction of peripheral visual field [HPO term]
- Optic disc pallor [HPO term]
- Rod-cone dystrophy [HPO term]
- Undetectable light- and dark-adapted electroretinogram [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 26 [MeSH Supplementary Concept]
- retinitis pigmentosa 26 [MeSH concept]
- retinitis pigmentosa 26 [DO Concept]
- retinitis pigmentosa 26 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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