Retinitis pigmentosa 85

Preferred Label : Retinitis pigmentosa 85;

Symbol : RP85;

CISMeF acronym : RP85;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aryl hydrocarbon receptor gene (AHR, 600253.0001);

Prefixed ID : #618345;

Details

Origin ID

618345;

UMLS CUI

C5193041;

Genes related to phenotype
- Aryl hydrocarbon receptor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Progressive night blindness [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]

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