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General Information
ZIRC
OBO ID: DOID:0080351
Term Name: CLOVES syndrome Search Ontology:
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 activiating 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 CLOVES syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIK3CA CLOVE syndrome, somatic 612918
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None