Retinitis pigmentosa 12

Preferred Label : Retinitis pigmentosa 12;

Symbol : RP12;

CISMeF acronym : RP12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rp with or without preserved paraarteriole retinal pigment epithelium; Rp with or without pprpe; Retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the Drosophila crumbs 1 gene (CRB1, 604210.0001);

Prefixed ID : #600105;

Details

Origin ID

600105;

UMLS CUI

C1838647;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 12 [DO Concept]
- retinitis pigmentosa 12 [Disease (Nov.)]
- retinitis pigmentosa 12 [MeSH concept]
- retinitis pigmentosa 12 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 12 [DO Concept]
Genes related to phenotype
- Crumbs cell polarity complex component 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
See also inter- (CISMeF)
- retinitis pigmentosa with paraarteriolar preservation of retinal pigment epithelium [MeSH Supplementary Concept]
- retinitis pigmentosa with paraarteriolar preservation of retinal pigment epithelium [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 12 [MeSH Supplementary Concept]
- retinitis pigmentosa 12 [MeSH concept]
- retinitis pigmentosa 12 [DO Concept]
- retinitis pigmentosa 12 [Disease (Nov.)]

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