Search Ontology:
Human Disease
CLOVES syndrome
- Term ID
- DOID:0080351
- Synonyms
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- 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
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- GARD:10939
- ICD10CM:Q87.3
- MIM:612918
- ORDO:140944
- Ontology
- Human Disease ( DOID:0080351 )
- is a type of
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Genes Involved
Zebrafish Models