Retinitis pigmentosa 79

Preferred Label : Retinitis pigmentosa 79;

Symbol : RP79;

CISMeF acronym : RP79;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the hexokinase 1 gene (HK1, 142600.0005);

Prefixed ID : #617460;

Détails

Origin ID

617460;

UMLS CUI

C4479526;

Genes related to phenotype
- Hexokinase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Constriction of peripheral visual field [HPO term]
- Macular atrophy [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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