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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 3
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Accession:DOID:0060671 term browser browse the term
Definition:A cerebral cavernous malformation that_has_material_basis in mutation in the PDCD10 gene on chromosome 3q26.1. (DO)
Synonyms:exact_synonym: CCM3;   cerebral cavernous malformations 3
 primary_id: MESH:C566393
 alt_id: OMIM:603285
 xref: ICD10CM:Q28.3
For additional species annotation, visit the Alliance of Genome Resources.


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cerebral cavernous malformation 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO OMIM NCBI chrNW_004955448:16,866,577...16,887,215
Ensembl chrNW_004955448:16,864,031...16,887,626
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G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chrNW_004955448:16,947,375...16,982,114
Ensembl chrNW_004955448:16,947,403...16,984,130
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12528
    Developmental Disease 9322
      Neurodevelopmental Disorders 5047
        intellectual disability 3068
          cerebral cavernous malformation 3 2
Path 2
Term Annotations click to browse term
  disease 12528
    disease of anatomical entity 12209
      nervous system disease 10127
        central nervous system disease 8880
          brain disease 8337
            disease of mental health 6079
              developmental disorder of mental health 3820
                specific developmental disorder 3181
                  intellectual disability 3068
                    cerebral cavernous malformation 3 2
paths to the root