Macular degeneration, atrophic, X-linked

Preferred Label : Macular degeneration, atrophic, X-linked;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the retinitis pigmentosa GTPase regulator gene (RPGR, 312610.0017);

Prefixed ID : #300834;

Détails

Origin ID

300834;

UMLS CUI

C3151784;

Genes related to phenotype
- Retinitis pigmentosa gtpase regulator [OMIM gene]
HPO term(s)
- Macular degeneration [HPO term]
- Reduced visual acuity [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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