Retinitis pigmentosa 38

Preferred Label : Retinitis pigmentosa 38;

Symbol : RP38;

CISMeF acronym : RP38;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rod-cone dystrophy, childhood-onset;

Description : Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by Mackay et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MER tyrosine kinase protooncogene (MERTK, 604705.0001);

Prefixed ID : #613862;

Details

Origin ID

613862;

UMLS CUI

C3151228;

Automatic exact mappings (from CISMeF team)
- MER proto-oncogene, tyrosine kinase [ORDO Gene]
- MER proto-oncogene, tyrosine kinase [HGNC gene]
Currated CISMeF NLP mapping
- retinitis pigmentosa 38 [DO Concept]
DO Cross reference
- retinitis pigmentosa 38 [DO Concept]
Genes related to phenotype
- Mer tyrosine kinase protooncogene [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Macular atrophy [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Peripheral retinal atrophy [HPO term]
- Progressive visual 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 38 [DO Concept]

Keyword's position in hierarchy(ies) :

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