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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: MIM:603285
 xref: ICD10CM:Q28.3


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cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 exacerbates
onset 		ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:603285
DNA:deletions, nonsense mutations:multiple (human)
DNA:mutations:SNPs, duplications, deletions:multiple (human)
DNA:nonsense mutation, frameshift mutations:CDS:multiple (human)
DNA:SNPs:promoter: (rs9853967, rs11714980) (human)
DNA:mutations:multiple (human)
DNA:deletion:CDS:c.506delA (human)
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More... RGD:329961304, RGD:401827102, RGD:401827103, RGD:401827108, RGD:401827114, RGD:401827115, RGD:401827173 NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:162,602,516...162,644,612 		JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:162,645,350...162,731,740 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Neurodevelopmental Disorders 6988
        intellectual disability 4415
          cerebral cavernous malformation 3 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          blood coagulation disease 1444
            hemorrhagic disease 1397
              vascular hemostatic disease 488
                cavernous hemangioma 21
                  cerebral cavernous malformation 20
                    Familial Cerebral Cavernous Malformation 10
                      cerebral cavernous malformation 3 2
paths to the root