Retinitis pigmentosa 82 with or without situs inversus

Preferred Label : Retinitis pigmentosa 82 with or without situs inversus;

Symbol : RP82;

CISMeF acronym : RP82;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ADP ribosylation factor-like 2-binding protein gene (ARL2BP, 615407.0001);

Prefixed ID : #615434;

Details

Origin ID

615434;

UMLS CUI

C4747737;

Currated CISMeF NLP mapping
- retinitis pigmentosa with or without situs inversus [DO Concept]
DO Cross reference
- retinitis pigmentosa with or without situs inversus [DO Concept]
Genes related to phenotype
- Adp-ribosylation factor-like gtpase 2-binding protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Macular atrophy [HPO term]
- Optic disc pallor [HPO term]
- Posterior subcapsular cataract [HPO term]
- Reduced visual acuity [HPO term]
- Rod-cone dystrophy [HPO term]
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa with or without situs inversus [DO Concept]

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