Search Ontology:
Human Disease

CLOVES syndrome

Term ID
DOID:0080351
Synonyms
  • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
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
References
Ontology
Human Disease   ( DOID:0080351 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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