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ONTOLOGY REPORT - ANNOTATIONS


Term:cerebral cavernous malformation
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Accession:DOID:0060669 term browser browse the term
Definition:A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit.
Synonyms:exact_synonym: Brain Cavernous Hemangioma;   CAM;   CCM;   Cavernous Angioma, Central Nervous System;   Cavernous Angiomatous Malformation;   Cavernous Angiomatous Malformations;   Cavernous Hemangioma of Brain;   Cerebral Capillary Malformation;   Cerebral Capillary Malformations;   Cerebral Cavernous Hemangioma;   Cerebral Cavernous Hemangiomas;   Cerebral Cavernous Malformations;   Extracerebral Cavernous Hemangioma;   Extracerebral Cavernous Hemangiomas;   Familial Cavernous Angioma;   Familial Cavernous Angiomas;   Familial Cavernous Malformation;   Familial Cavernous Malformations;   Intracerebral Cavernous Hemangioma;   brain cavernous hemangiomas;   cavernous hemangioma, central nervous system;   intracerebral cavernous hemangiomas
 narrow_synonym: CAVERNOUS MALFORMATIONS OF CNS AND RETINA;   HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS
 primary_id: MESH:D020786;   OMIM:116860
 alt_id: RDO:0002242
For additional species annotation, visit the Alliance of Genome Resources.


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cerebral cavernous malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankib1 ankyrin repeat and IBR domain containing 1 JBrowse link 4 27,473,477 27,597,206 RGD:8554872
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:11554173
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8551824
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551824
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:1358458
RGD:8554872
RGD:7240710
RGD:1598379
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552573
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859036
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:8554872
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
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
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:7240710
RGD:8554872
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11039024

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      cardiovascular system disease 4254
        vascular disease 3284
          cerebrovascular disease 804
            cerebral cavernous malformation 11
              Familial Cerebral Cavernous Malformation 1
              cerebral cavernous malformation 1 1
              cerebral cavernous malformation 2 2
              cerebral cavernous malformation 3 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Hemic and Lymphatic Diseases 1724
        hematopoietic system disease 1452
          blood coagulation disease 468
            hemorrhagic disease 456
              vascular hemostatic disease 237
                cavernous hemangioma 12
                  cerebral cavernous malformation 11
                    Familial Cerebral Cavernous Malformation 1
                    cerebral cavernous malformation 1 1
                    cerebral cavernous malformation 2 2
                    cerebral cavernous malformation 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.