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
Accession: DOID:9005630
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 .
G
Atp7a
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2346371 PMID:25449986
NCBI chr X:77,076,085...77,193,644
Ensembl chr X:77,076,106...77,193,644
G
Edn2
endothelin 2
ISO
RGD
PMID:11947982
RGD:1580915
NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
G
Fbn1
fibrillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
G
Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
G
Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Npr1
natriuretic peptide receptor 1
ISO
associated with Hypertension
RGD
PMID:9405681
RGD:737701
NCBI chr 2:189,840,403...189,857,032
Ensembl chr 2:189,840,403...189,856,090
G
Vkorc1
vitamin K epoxide reductase complex, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16549638
NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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