Retinitis pigmentosa 18

Preferred Label : Retinitis pigmentosa 18;

Symbol : RP18;

CISMeF acronym : RP18;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the pre-mRNA processing factor 3 gene (607301.0001);

Prefixed ID : #601414;

Details

Origin ID

601414;

UMLS CUI

C1832378;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 18 [DO Concept]
- retinitis pigmentosa 18 [Disease (Nov.)]
- retinitis pigmentosa 18 [MeSH concept]
- retinitis pigmentosa 18 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 18 [DO Concept]
Genes related to phenotype
- Pre-mrna processing factor 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Nyctalopia [HPO term]
- Progressive visual field defects [HPO term]
- Retinal arteriolar constriction [HPO term]
- Rod-cone dystrophy [HPO term]
- Scotoma [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 18 [MeSH Supplementary Concept]
- retinitis pigmentosa 18 [MeSH concept]
- retinitis pigmentosa 18 [DO Concept]
- retinitis pigmentosa 18 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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