ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0012032
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CLAPO 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:8554872

Term paths to the root
Path 1
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  disease 14920
    syndrome 4714
      CLAPO Syndrome 1
Path 2
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Cardiovascular Abnormalities 782
            Vascular Malformations 68
              arteriovenous malformation 46
                CLAPO 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.