Retinitis pigmentosa 1

Preferred Label : Retinitis pigmentosa 1;

Symbol : RP1;

CISMeF acronym : RP1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the oxygen-regulated photoreceptor protein-1 gene (ORP1, 603937.0001);

Laboratory abnormalities : Absent cone and rod functions by electroretinogram (ERG);

Prefixed ID : #180100;

Details

Origin ID

180100;

UMLS CUI

C0220701;

Automatic exact mappings (from CISMeF team)
- RP1 axonemal microtubule associated [HGNC gene]
- RP1 axonemal microtubule associated [ORDO Gene]
- STK19 wt Allele [NCIt concept]
- Vusolimogene Oderparepvec [NCIt concept]
- microtubule associated protein RP/EB family member 2 [ORDO Gene]
- microtubule associated protein RP/EB family member 2 [HGNC gene]
- serine/threonine kinase 19 [HGNC gene]
Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 1 [DO Concept]
- retinitis pigmentosa 1 [Disease (Nov.)]
- retinitis pigmentosa 1 [MeSH concept]
- retinitis pigmentosa 1 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 1 [DO Concept]
Genes related to phenotype
- Rp1 axonemal microtubule-associated protein [OMIM gene]
HPO term(s)
- Absent cone and rod functions by electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Constriction of peripheral visual field [HPO term]
- Heterogeneous [HPO term]
- Myopia [HPO term]
- Nyctalopia [HPO term]
- Retinal 'bone corpuscle' pigmentation [HPO term]
- Rod-cone dystrophy [HPO term]
- Undetectable light- and dark-adapted electroretinogram [HPO term]
- Usually autosomal dominant [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 1 [MeSH Supplementary Concept]
- retinitis pigmentosa 1 [MeSH concept]
- retinitis pigmentosa 1 [DO Concept]
- retinitis pigmentosa 1 [Disease (Nov.)]

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