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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:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17376864, 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:22729224, PMID:23066039, PMID:23100325, PMID:24033266, PMID:24559322, PMID:25157968, PMID:25741868, PMID:26619011, PMID:26851524, PMID:27631024, PMID:28492532, PMID:29446767, PMID:31775759 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 16058
    syndrome 6996
      CLAPO Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        vascular disease 3386
          Vascular Tissue Neoplasms 134
            hemangioma 84
              arteriovenous malformation 52
                CLAPO 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.