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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:Familial Cerebral Cavernous Malformation
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Accession:DOID:9001136 term browser browse the term
Synonyms:exact_synonym: Familial cavernous hemangioma;   Familial cerebral cavernous angioma
 primary_id: MESH:C536610
 alt_id: RDO:0002241
For additional species annotation, visit the Alliance of Genome Resources.


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Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cand2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chrNW_004955429:17,891,306...17,913,961
Ensembl chrNW_004955429:17,891,796...17,913,866
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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
              Familial Cerebral Cavernous Malformation 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
                    Familial Cerebral Cavernous Malformation 1
paths to the root