Retinitis pigmentosa 32

Preferred Label : Retinitis pigmentosa 32;

Symbol : RP32;

CISMeF acronym : RP32;

Type : Phenotype, molecular basis known;

Description : For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chloride channel CLIC-like-1 gene (CLCC1, 617539.0001);

Prefixed ID : #609913;

Details

Origin ID

609913;

UMLS CUI

C1835927;

Currated CISMeF NLP mapping
- retinitis pigmentosa 32 [DO Concept]
- retinitis pigmentosa 32 [MeSH concept]
- retinitis pigmentosa 32 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 32 [DO Concept]
Genes related to phenotype
- Chloride channel clic-like 1 [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
- Photoreceptor layer loss on macular OCT [HPO term]
- Pigmentary retinopathy [HPO term]
- Reduced visual acuity [HPO term]
- Retinal degeneration [HPO term]
- Undetectable electroretinogram [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 32 [MeSH Supplementary Concept]
- retinitis pigmentosa 32 [MeSH concept]
- retinitis pigmentosa 32 [DO Concept]

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