Retinitis pigmentosa 31

Preferred Label : Retinitis pigmentosa 31;

Symbol : RP31;

CISMeF acronym : RP31;

Type : Phenotype, molecular basis known;

Prefixed ID : #609923;

Details

Origin ID

609923;

UMLS CUI

C1835923;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 31 [DO Concept]
- retinitis pigmentosa 31 [MeSH concept]
- retinitis pigmentosa 31 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 31 [DO Concept]
Genes related to phenotype
- Topoisomerase I-binding arginine/serine-rich protein [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal dominant inheritance [HPO term]
- Retinal pigment epithelial atrophy [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 31 [MeSH Supplementary Concept]
- retinitis pigmentosa 31 [MeSH concept]
- retinitis pigmentosa 31 [DO Concept]

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