Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 1
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
show annotations for term's descendants           Sort by:
 
cerebral cavernous malformation 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1 ankyrin repeat containing ISO OMIM NCBI chrNW_004955432:9,168,678...9,219,947 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12528
    disease of anatomical entity 12209
      nervous system disease 10127
        Nervous System Malformations 1419
          Central Nervous System Vascular Malformations 34
            cerebral cavernous malformation 11
              cerebral cavernous malformation 1 1
Path 2
Term Annotations click to browse term
  disease 12528
    disease of anatomical entity 12209
      Hemic and Lymphatic Diseases 1830
        hematopoietic system disease 1490
          blood coagulation disease 547
            hemorrhagic disease 537
              vascular hemostatic disease 273
                cavernous hemangioma 12
                  cerebral cavernous malformation 11
                    cerebral cavernous malformation 1 1
paths to the root