Retinitis pigmentosa 45

Preferred Label : Retinitis pigmentosa 45;

Symbol : RP45;

CISMeF acronym : RP45;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-1 cyclic nucleotide-gated channel (CNGB1, 600724.0001);

Prefixed ID : #613767;

Details

Origin ID

613767;

UMLS CUI

C3151066;

Automatic exact mappings (from CISMeF team)
- cyclic nucleotide gated channel subunit beta 1 [ORDO Gene]
- cyclic nucleotide gated channel subunit beta 1 [HGNC gene]
Currated CISMeF NLP mapping
- retinitis pigmentosa 45 [DO Concept]
DO Cross reference
- retinitis pigmentosa 45 [DO Concept]
Genes related to phenotype
- Cyclic nucleotide-gated channel, beta-1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Macular degeneration [HPO term]
- Nyctalopia [HPO term]
- Peripheral visual field loss [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 45 [DO Concept]

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