Retinitis pigmentosa 11

Preferred Label : Retinitis pigmentosa 11;

Symbol : RP11;

CISMeF acronym : RP11;

Type : Phenotype, molecular basis known;

Description : Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment. For a discussion of genetic heterogeneity of RP, see 268000.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the pre-mRNA processing factor 31 gene (PRPF31, 606419.0001);

Prefixed ID : #600138;

Details

Origin ID

600138;

UMLS CUI

C1838601;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 11 [DO Concept]
- retinitis pigmentosa 11 [Disease (Nov.)]
- retinitis pigmentosa 11 [MeSH concept]
- retinitis pigmentosa 11 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 11 [DO Concept]
Genes related to phenotype
- Pre-mrna-processing factor 31 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Constriction of peripheral visual field [HPO term]
- Incomplete penetrance [HPO term]
- Macular atrophy [HPO term]
- Macular degeneration [HPO term]
- Macular edema [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Perifoveal ring of hyperautofluorescence [HPO term]
- Reduced visual acuity [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 11 [MeSH Supplementary Concept]
- retinitis pigmentosa 11 [MeSH concept]
- retinitis pigmentosa 11 [DO Concept]
- retinitis pigmentosa 11 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients