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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:CLAPO Syndrome
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Accession:DOID:9006394 term browser browse the term
Synonyms:exact_synonym: Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth;   Clapo;   Lopez-Gutierrez Syndrome
 primary_id: MESH:C567763
 alt_id: OMIM:613089


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CLAPO 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 ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth OMIM
ClinVar		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      CLAPO Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of cellular proliferation 7653
      Neoplasms by Site 7112
        organ system benign neoplasm 1289
          cardiovascular organ benign neoplasm 128
            hemangioma 113
              arteriovenous malformation 62
                CLAPO Syndrome 1
paths to the root