Retinitis pigmentosa 23

Preferred Label : Retinitis pigmentosa 23;

Symbol : RP23;

CISMeF acronym : RP23;

Type : Phenotype, molecular basis known;

Description : For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the OFD1 centriole and centriolar satellite protein gene (OFD1, 300170.0011);

Prefixed ID : #300424;

Details

Origin ID

300424;

UMLS CUI

C1419610;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 23 [DO Concept]
DO Cross reference
- retinitis pigmentosa 23 [DO Concept]
Genes related to phenotype
- Ofd1 centriole and centriolar satellite protein [OMIM gene]
HPO term(s)
- Color vision defect [HPO term]
- Posterior subcapsular cataract [HPO term]
- Rod-cone dystrophy [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 23 [DO Concept]

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