Retinitis pigmentosa 46

Preferred Label : Retinitis pigmentosa 46;

Symbol : RP46;

CISMeF acronym : RP46;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinitis pigmentosa, autosomal recessive, idh3b-related;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the isocitrate dehydrogenase 3, beta subunit gene (IDH3B, 604526.0001);

Prefixed ID : #612572;

Details

Origin ID

612572;

UMLS CUI

C2675496;

Automatic exact mappings (from CISMeF team)
- isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta [ORDO Gene]
- isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta [HGNC gene]
Broader ORDO disease(s)
- Retinitis pigmentosa [ORDO Disease]
Currated CISMeF NLP mapping
- retinitis pigmentosa 46 [DO Concept]
- retinitis pigmentosa 46 [MeSH concept]
- retinitis pigmentosa 46 [MeSH Supplementary Concept]
DO Cross reference
- retinitis pigmentosa 46 [DO Concept]
Genes related to phenotype
- Isocitrate dehydrogenase, nad(+), 3, noncatalytic subunit beta [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Constriction of peripheral visual field [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Optic disc pallor [HPO term]
- Pigmentary retinopathy [HPO term]
- Posterior subcapsular cataract [HPO term]
- Rod-cone dystrophy [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 46 [MeSH Supplementary Concept]
- retinitis pigmentosa 46 [MeSH concept]
- retinitis pigmentosa 46 [DO Concept]

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