| Metadata | |
|---|---|
| ID | DOID:13096 |
| Name | Sneddon syndrome |
| Definition | An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. https://pubmed.ncbi.nlm.nih.gov/25075847/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:716745004 |
| Subsets |
DO_rare_slim |
| Synonyms |
Idiopathic livedo reticularis with systemic involvement [EXACT] |
| Parent Relationships |
is_a artery disease |