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ONTOLOGY REPORT - ANNOTATIONS


Term:cerebral cavernous malformation 1
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Accession:DOID:0080491 term browser browse the term
Definition:A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: CCM1;   CEREBRAL CAPILLARY MALFORMATIONS CEREBRAL CAVERNOUS MALFORMATIONS 1;   CEREBRAL CAVERNOUS MALFORMATIONS 1
 primary_id: OMIM:116860
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cerebral cavernous malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      cardiovascular system disease 4277
        vascular disease 3309
          cerebrovascular disease 803
            cerebral cavernous malformation 11
              cerebral cavernous malformation 1 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Hemic and Lymphatic Diseases 0
        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 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.