| Metadata | |
|---|---|
| ID | DOID:0061241 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061241 Copy |
| Name | Stargardt disease 1 |
| Definition | A stargardt disease that is characterized by juvenile-onset macular dystrophy with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks, defined as lipofuscin deposits, around the macula and/or in the central and near-peripheral areas of the retina and has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. https://pubmed.ncbi.nlm.nih.gov/33909047/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive disease is_a Stargardt disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |