Metadata | |
---|---|
ID | DOID:0080351 |
Name | CLOVES syndrome |
Definition | A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. https://www.ncbi.nlm.nih.gov/pubmed/25209813 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [EXACT] |
Parent Relationships |
is_a syndrome |