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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:Spontaneous Fractures
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Accession:DOID:9005827 term browser browse the term
Definition:Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed)
Synonyms:exact_synonym: Pathologic Fracture;   Pathologic Fractures;   Pathological Fracture;   Pathological Fractures;   Spontaneous Fracture
 primary_id: MESH:D005598


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Spontaneous Fractures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Pathologic fracture ClinVar PMID:8364588 PMID:25741868 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19138
    Wounds and Injuries 998
      Bone Fractures 90
        Spontaneous Fractures 1
paths to the root