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
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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
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Atp7a
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2346371 PMID:25449986
NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452
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Edn2
endothelin 2
ISO
RGD
PMID:11947982
RGD:1580915
NCBI chrNW_004624892:861,976...879,044
Ensembl chrNW_004624892:870,259...877,387
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Fbn1
fibrillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18178469
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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Npr1
natriuretic peptide receptor 1
ISO
associated with Hypertension
RGD
PMID:9405681
RGD:737701
NCBI chrNW_004624885:3,462,334...3,475,735
Ensembl chrNW_004624885:3,460,438...3,475,720
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Vkorc1
vitamin K epoxide reductase complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16549638
NCBI chrNW_004624782:14,141,545...14,144,181
Ensembl chrNW_004624782:14,141,545...14,144,177
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Ngf
nerve growth factor
ISO
mRNA,protein:increased expression:rotator cuff
RGD
PMID:30146165
RGD:402463951
NCBI chrNW_004624772:11,009,765...11,070,050
Ensembl chrNW_004624772:11,010,845...11,070,017
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