ONTOLOGY REPORT - ANNOTATIONS


Term:CLOVES syndrome
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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
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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
RGD:13207409
RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      CLOVES syndrome 1
Path 2
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  disease 14875
    disease of cellular proliferation 5577
      Neoplasms by Histologic Type 3430
        Connective and Soft Tissue Neoplasms 361
          Adipose Tissue Neoplasms 19
            lipoma 7
              CLOVES syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.