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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 activiating mutations in the PIK3CA gene on chromosome 3q26.
https://www.ncbi.nlm.nih.gov/pubmed/25209813
Xrefs

GARD:10939

ICD10CM:Q87.3

OMIM:612918

ORDO:140944

Synonyms

congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [EXACT]

Parent Relationships

is_a syndrome

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