Retinitis pigmentosa 66

Preferred Label : Retinitis pigmentosa 66;

Symbol : RP66;

CISMeF acronym : RP66;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the retinol-binding protein-3 gene (RBP3, 180920.0001);

Prefixed ID : #615233;

Details

Origin ID

615233;

UMLS CUI

C3715216;

Automatic exact mappings (from CISMeF team)
- retinol binding protein 3 [ORDO Gene]
- retinol binding protein 3 [HGNC gene]
- symbol withdrawn RP66 [HGNC gene]
Currated CISMeF NLP mapping
- retinitis pigmentosa 66 [DO Concept]
DO Cross reference
- retinitis pigmentosa 66 [DO Concept]
Genes related to phenotype
- Retinol-binding protein 3 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Central scotoma [HPO term]
- Constriction of peripheral visual field [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Posterior subcapsular cataract [HPO term]
- Reduced visual acuity [HPO term]
- Rod-cone dystrophy [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 66 [DO Concept]

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