Retinitis pigmentosa 50

Preferred Label : Retinitis pigmentosa 50;

Symbol : RP50;

CISMeF acronym : RP50;

Type : Phenotype, molecular basis known;

Included titles and symbols : Retinitis pigmentosa, concentric;

Prefixed ID : #613194;

Details

Origin ID

613194;

UMLS CUI

C2750789;

Automatic exact mappings (from CISMeF team)
- bestrophin 1 [ORDO Gene]
- bestrophin 1 [HGNC gene]
Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
CISMeF manual mappings
- retinitis pigmentosa 50 [DO Concept]
DO Cross reference
- retinitis pigmentosa 50 [DO Concept]
Genes related to phenotype
- Bestrophin 1 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal dominant inheritance [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Reduced visual acuity [HPO term]
- Retinal detachment [HPO term]
- Retinal flecks [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 50 [DO Concept]
- retinitis pigmentosa, concentric [MeSH Supplementary Concept]
- retinitis pigmentosa, concentric [MeSH concept]
Validated automatic mappings to BTNT
- retinitis pigmentosa, concentric [MeSH concept]
- retinitis pigmentosa, concentric [MeSH Supplementary Concept]

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