FTP Download
Chinchilla Research Resource Database


Term:CLOVES syndrome
go back to main search page
Accession:DOID:0080351 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Clove Syndrome;   Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal-Spinal Abnormalities;   Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
 primary_id: MESH:C567863
 alt_id: OMIM:612918;   RDO:0015764
 xref: GARD:10939;   ORDO:140944
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
CLOVES syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      CLOVES syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of cellular proliferation 5566
      Neoplasms by Histologic Type 3415
        Connective and Soft Tissue Neoplasms 356
          Adipose Tissue Neoplasms 19
            lipoma 7
              CLOVES syndrome 1
paths to the root