Macular dystrophy, vitelliform, 4

Preferred Label : Macular dystrophy, vitelliform, 4;

Symbol : VMD4;

CISMeF acronym : VMD4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the interphotoreceptor matrix proteoglycan-1 gene (IMPG1, 602870);

Prefixed ID : #616151;

Details

Origin ID

616151;

UMLS CUI

C4015342;

DO Cross reference
- vitelliform macular dystrophy [DO Concept]
Genes related to phenotype
- Interphotoreceptor matrix proteoglycan 1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased Arden ratio of electrooculogram [HPO term]
- Drusen [HPO term]
- Macular dystrophy [HPO term]
- Moderately reduced visual acuity [HPO term]
- Vitelliform-like macular lesions [HPO term]
ORDO concept(s)
- Adult-onset foveomacular vitelliform dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients