Retinitis pigmentosa 41

Preferred Label : Retinitis pigmentosa 41;

Symbol : RP41;

CISMeF acronym : RP41;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinal degeneration, autosomal recessive, prominin-related;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the prominin-1 gene (PROM1, 604365.0013);

Prefixed ID : #612095;

Details

Origin ID

612095;

UMLS CUI

C2677516;

Automatic exact mappings (from CISMeF team)
- prominin 1 [ORDO Gene]
- prominin 1 [HGNC gene]
Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 41 [DO Concept]
- retinitis pigmentosa 41 [MeSH concept]
- retinitis pigmentosa 41 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 41 [DO Concept]
Genes related to phenotype
- Prominin 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]
- Childhood onset [HPO term]
- Macular degeneration [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Peripheral visual field loss [HPO term]
- Pigmentary retinopathy [HPO term]
- Rod-cone dystrophy [HPO term]
- Severely reduced visual acuity [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 41 [MeSH Supplementary Concept]
- retinitis pigmentosa 41 [MeSH concept]
- retinitis pigmentosa 41 [DO Concept]

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