Retinitis pigmentosa 27

Preferred Label : Retinitis pigmentosa 27;

Symbol : RP27;

CISMeF acronym : RP27;

Type : Phenotype, molecular basis known;

Included titles and symbols : Retinal degeneration, autosomal recessive, clumped pigment type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neural retina leucine zipper gene (NRL, 162080.0001);

Prefixed ID : #613750;

Details

Origin ID

613750;

UMLS CUI

C1834329;

Automatic exact mappings (from CISMeF team)
- neural retina leucine zipper [ORDO Gene]
- neural retina leucine zipper [HGNC gene]
- retinal degeneration, autosomal recessive, clumped pigment type [MeSH concept]
- retinal degeneration, autosomal recessive, clumped pigment type [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- retinitis pigmentosa 27 [DO Concept]
- retinitis pigmentosa 27 [MeSH concept]
- retinitis pigmentosa 27 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 27 [DO Concept]
Genes related to phenotype
- Neural retina leucine zipper [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Chorioretinal atrophy [HPO term]
- Macular atrophy [HPO term]
- Macular edema [HPO term]
- Nyctalopia [HPO term]
- Pallor [HPO term]
- Peripapillary chorioretinal atrophy [HPO term]
- Rod-cone dystrophy [HPO term]
- Undetectable electroretinogram [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 27 [MeSH Supplementary Concept]
- retinitis pigmentosa 27 [MeSH concept]
- retinitis pigmentosa 27 [DO Concept]

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