Retinitis pigmentosa 20

Preferred Label : Retinitis pigmentosa 20;

Symbol : RP20;

CISMeF acronym : RP20;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the retinal pigment epithelium-specific protein, 65-kD (RPE65, 180069.0003);

Prefixed ID : #613794;

Details

Origin ID

613794;

UMLS CUI

C3151086;

Automatic exact mappings (from CISMeF team)
- symbol withdrawn RP20 [HGNC gene]
Currated CISMeF NLP mapping
- retinitis pigmentosa 20 [DO Concept]
- retinitis pigmentosa 20 [Disease (Nov.)]
- retinitis pigmentosa 20 [MeSH concept]
- retinitis pigmentosa 20 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 20 [DO Concept]
Genes related to phenotype
- Retinoid isomerohydrolase rpe65 [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Rod-cone dystrophy [HPO term]
- Severely reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 20 [MeSH Supplementary Concept]
- retinitis pigmentosa 20 [MeSH concept]
- retinitis pigmentosa 20 [DO Concept]
- retinitis pigmentosa 20 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients