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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0014761
 alt_id: OMIM:603284
 xref: ORDO:221061
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cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:7240710
RGD:8554872
G Nacad NAC alpha domain containing JBrowse link 14 86,860,607 86,868,605 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Neurodevelopmental Disorders 4067
        intellectual disability 1703
          cerebral cavernous malformation 2 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          blood coagulation disease 468
            hemorrhagic disease 456
              vascular hemostatic disease 236
                cavernous hemangioma 12
                  cerebral cavernous malformation 11
                    cerebral cavernous malformation 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.