Visualize Submit Comment
Metadata
ID DOID:0061238
PURL http://purl.obolibrary.org/obo/DOID_0061238 Copy
Name Stargardt disease 3
Definition A stargardt disease that is characterized by macular pigmentary changes and yellow flecks and macular retinal pigment epithelium defects and has_material_basis_in heterozygous mutation in the ELOVL4 gene on chromosome 6q14.
https://pubmed.ncbi.nlm.nih.gov/15557430/
Xrefs

MIM:600110

Parent Relationships

is_a Stargardt disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

Add an item to the term tracker