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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:Rupture
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Accession:DOID:9005630 term browser browse the term
Definition:Forcible or traumatic tear or break of an organ or other soft part of the body.
Synonyms:exact_synonym: Ruptures
 primary_id: MESH:D012421
For additional species annotation, visit the Alliance of Genome Resources.


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Aortic Rupture term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:2346371 PMID:25449986 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Edn2 endothelin 2 ISO RGD PMID:11947982 RGD:1580915 NCBI chr 5:133,751,316...133,756,814
Ensembl chr 5:133,751,217...133,756,814 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18178469 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO associated with Hypertension RGD PMID:9405681 RGD:737701 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505 		JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16549638 NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008 		JBrowse link
Rotator Cuff Injuries term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem1 triggering receptor expressed on myeloid cells 1 IEP protein:increased expression:tendon: RGD PMID:29891998 RGD:127284862 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Wounds and Injuries 872
      Rupture 8
        Aortic Rupture 7
        Rotator Cuff Injuries 1
        Splenic Rupture + 0
        Stomach Rupture 0
        Uterine Rupture + 0
paths to the root