Retinitis pigmentosa 10

Preferred Label : Retinitis pigmentosa 10;

Symbol : RP10;

CISMeF acronym : RP10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the IMP dehydrogenase-1 gene (IMPDH1, 146690.0001);

Prefixed ID : #180105;

Details

Origin ID

180105;

UMLS CUI

C1867299;

Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 10 [DO Concept]
- retinitis pigmentosa 10 [Disease (Nov.)]
- retinitis pigmentosa 10 [MeSH concept]
- retinitis pigmentosa 10 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 10 [DO Concept]
Genes related to phenotype
- Imp dehydrogenase 1 [OMIM gene]
HPO term(s)
- Absent cone and rod functions by electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Constriction of peripheral visual field [HPO term]
- Geographic atrophy [HPO term]
- Infantile onset [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Posterior subcapsular cataract [HPO term]
- Reduced visual acuity [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 10 [MeSH Supplementary Concept]
- retinitis pigmentosa 10 [MeSH concept]
- retinitis pigmentosa 10 [DO Concept]
- retinitis pigmentosa 10 [Disease (Nov.)]

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