Retinitis pigmentosa 13

Preferred Label : Retinitis pigmentosa 13;

Symbol : RP13;

CISMeF acronym : RP13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the pre-mRNA processing factor 8 gene (PRPF8, 607300.0001);

Prefixed ID : #600059;

Details

Origin ID

600059;

UMLS CUI

C1838702;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 13 [DO Concept]
- retinitis pigmentosa 13 [Disease (Nov.)]
- retinitis pigmentosa 13 [MeSH concept]
- retinitis pigmentosa 13 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 13 [DO Concept]
Genes related to phenotype
- Pre-mrna-processing factor 8 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Constriction of peripheral visual field [HPO term]
- Cystoid macular edema [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Incomplete penetrance [HPO term]
- Nyctalopia [HPO term]
- Retinal degeneration [HPO term]
- Retinitis pigmentosa type I [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 13 [MeSH Supplementary Concept]
- retinitis pigmentosa 13 [MeSH concept]
- retinitis pigmentosa 13 [DO Concept]
- retinitis pigmentosa 13 [Disease (Nov.)]

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