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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 1
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Accession:DOID:0080491 term browser browse the term
Definition:A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: CCM1;   KRIT1-RELATED DISORDERS;   cerebral cavernous malformations 1
 primary_id: OMIM:116860


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cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: Cerebral cavernous malformations 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders OMIM
ClinVar		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895 		JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 ClinVar PMID:25741868 NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430 		JBrowse link
G PTGIS prostaglandin I2 synthase exacerbates ISO DNA:silent mutation:CDS:p.L256L (rs5628) (human) RGD PMID:26795600 RGD:401960081 NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Nervous System Malformations 2357
          Central Nervous System Vascular Malformations 51
            cerebral cavernous malformation 18
              Familial Cerebral Cavernous Malformation 9
                cerebral cavernous malformation 1 3
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Hemic and Lymphatic Diseases 3704
        hematopoietic system disease 3221
          blood coagulation disease 930
            hemorrhagic disease 884
              vascular hemostatic disease 469
                cavernous hemangioma 19
                  cerebral cavernous malformation 18
                    Familial Cerebral Cavernous Malformation 9
                      cerebral cavernous malformation 1 3
paths to the root