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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:Cerebral Cavernous Malformation 4
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Accession:DOID:9001282 term browser browse the term
Definition:Cerebral cavernous malformations caused by somatic mutation in the PIK3CA gene on chromosome 3q26. (OMIM)
Synonyms:exact_synonym: CCM4;   cerebral cavernous malformations 4
 primary_id: MIM:619538

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Cerebral Cavernous Malformation 4 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: Cerebral cavernous malformation 4 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14315
    disease of anatomical entity 14022
      nervous system disease 12335
        Nervous System Malformations 2322
          Central Nervous System Vascular Malformations 50
            cerebral cavernous malformation 18
              Familial Cerebral Cavernous Malformation 8
                Cerebral Cavernous Malformation 4 1
Path 2
Term Annotations click to browse term
  disease 14315
    disease of anatomical entity 14022
      Hemic and Lymphatic Diseases 3820
        hematopoietic system disease 3371
          blood coagulation disease 1279
            hemorrhagic disease 1235
              vascular hemostatic disease 441
                cavernous hemangioma 19
                  cerebral cavernous malformation 18
                    Familial Cerebral Cavernous Malformation 8
                      Cerebral Cavernous Malformation 4 1
paths to the root