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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;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar
PMID:2468908, PMID:14624391, PMID:14740320, PMID:15122722, PMID:17160895, PMID:18060436, PMID:18300272, PMID:19088123, PMID:19088124, PMID:20419355, PMID:23595507, PMID:24466005, PMID:25525273, PMID:25741868, PMID:26467025, PMID:27153162, PMID:27561926, PMID:27792856, PMID:28492532, PMID:32860008 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895, PMID:28492532 NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          cerebral cavernous malformation 2 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    cerebral cavernous malformation 2 2
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.