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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   ICD10CM:Q87.3;   ORDO:140944
For additional species annotation, visit the Alliance of Genome Resources.


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CLOVES syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO DNA: missense mutations: exon :p.H1047R, p.H1047L
ClinVar Annotator: match by term: CLOVES SYNDROME
ClinVar Annotator: match by term: CLOVE SYNDROME
ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
OMIM
ClinVar
PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22357840, PMID:22658544, PMID:22729222, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23100325, PMID:23888070, PMID:24033266, PMID:24559322, PMID:24782230, PMID:25157968, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26619011, PMID:26822237, PMID:26851524, PMID:27626068, PMID:27631024, PMID:28492532, PMID:29446767, PMID:31775759, PMID:22729222 RGD:13207409 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      CLOVES syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of cellular proliferation 5918
      Neoplasms by Histologic Type 3730
        Connective and Soft Tissue Neoplasms 1509
          Adipose Tissue Neoplasms 23
            lipoma 12
              CLOVES syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.