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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, Spontaneous
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Accession:DOID:9008810 term browser browse the term
Definition:Tear or break of an organ, vessel or other soft part of the body, occurring in the absence of external force.
Synonyms:exact_synonym: Spontaneous Ruptures
 primary_id: MESH:D012422;   RDO:0006513
For additional species annotation, visit the Alliance of Genome Resources.


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Rupture, Spontaneous term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20635400 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness
ClinVar Annotator: match by OMIM:612394
OMIM
ClinVar
PMID:18834968 PMID:25741868 PMID:28492532 NCBI chr12:22,716,421...22,726,982
Ensembl chr12:22,716,423...22,726,982
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Pathological Conditions, Signs and Symptoms 10186
      Anatomical Pathological Conditions 1989
        Rupture, Spontaneous 2
          Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
paths to the root