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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: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
 alt_id: OMIM:603284
 xref: ORDO:221061
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
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cerebral cavernous malformation 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO OMIM NCBI chrNW_004955456:7,232,224...7,251,012
Ensembl chrNW_004955456:7,227,667...7,256,206
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G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chrNW_004955456:7,224,224...7,230,736
Ensembl chrNW_004955456:7,224,202...7,230,660
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12530
    Developmental Disease 9323
      Neurodevelopmental Disorders 5048
        intellectual disability 3068
          cerebral cavernous malformation 2 2
Path 2
Term Annotations click to browse term
  disease 12530
    disease of anatomical entity 12210
      nervous system disease 10128
        central nervous system disease 8882
          brain disease 8339
            disease of mental health 6080
              developmental disorder of mental health 3820
                specific developmental disorder 3181
                  intellectual disability 3068
                    cerebral cavernous malformation 2 2
paths to the root