Macular degeneration, early-onset

Preferred Label : Macular degeneration, early-onset;

Symbol : EOMD;

CISMeF acronym : EOMD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibrillin 2 gene (FBN2, 612570.0011);

Prefixed ID : #616118;

Details

Origin ID

616118;

UMLS CUI

C4015286;

Automatic exact mappings (from CISMeF team)
- FBN2 wt Allele [NCIt concept]
Genes related to phenotype
- Fibrillin 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Choroidal neovascularization [HPO term]
- Macular degeneration [HPO term]
- Reduced visual acuity [HPO term]
Not associated HPO term(s)
- Abnormal skeletal morphology [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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