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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 2
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Accession:DOID:0060670 term browser browse the term
Definition:A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. (DO)
Synonyms:exact_synonym: CCM2;   cerebral cavernous malformations 2
 primary_id: MESH:C566394
 alt_id: OMIM:603284
 xref: ORDO:221061


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cerebral cavernous malformation 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:603284
ClinVar Annotator: match by term: Cerebral cavernous malformation 2		 OMIM
CTD
MouseDO
ClinVar		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116 		JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        intellectual disability 4300
          cerebral cavernous malformation 2 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          blood coagulation disease 959
            hemorrhagic disease 913
              vascular hemostatic disease 486
                cavernous hemangioma 19
                  cerebral cavernous malformation 18
                    Familial Cerebral Cavernous Malformation 9
                      cerebral cavernous malformation 2 2
paths to the root