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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
For additional species annotation, visit the Alliance of Genome Resources.



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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: LOPEZ-GUTIERREZ 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
ClinVar
OMIM
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      CLAPO Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        vascular disease 3440
          Vascular Tissue Neoplasms 133
            hemangioma 83
              arteriovenous malformation 49
                CLAPO Syndrome 1
paths to the root