| Metadata | |
|---|---|
| ID | DOID:0111547 |
| Name | retinal arterial tortuosity |
| Definition | An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34. https://www.ncbi.nlm.nih.gov/pubmed/12745002, https://www.ncbi.nlm.nih.gov/pubmed/25228067 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
RATOR [EXACT] retinal arteriolar tortuosity [EXACT] retinal hemorrhage with vascular tortuosity [EXACT] tortuosity of retinal arteries [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a artery disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |