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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
For additional species annotation, visit the Alliance of Genome Resources.


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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

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  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          cerebral cavernous malformation 2 2
Path 2
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  disease 14759
    disease of anatomical entity 13978
      Hemic and Lymphatic Diseases 1573
        hematopoietic system disease 1355
          blood coagulation disease 389
            hemorrhagic disease 375
              vascular hemostatic disease 181
                cavernous hemangioma 10
                  cerebral cavernous malformation 10
                    cerebral cavernous malformation 2 2
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