| Metadata | |
|---|---|
| ID | DOID:0061240 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061240 Copy |
| Name | Stargardt disease 5 |
| Definition | A stargardt disease that is characterized by onset of macular dystrophy in the fifth decade of life, with mildly reduced visual acuity and normal amplitudes on electroretinography and has_material_basis_in homozygous mutation in the RDH8 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/37628710/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive disease is_a Stargardt disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |