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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:X-linked warfarin sensitivity
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Accession:DOID:0080839 term browser browse the term
Definition:An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. (DO)
Synonyms:exact_synonym: COUMARIN SENSITIVITY, X-LINKED
 primary_id: OMIM:301052


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X-linked warfarin sensitivity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: COUMARIN SENSITIVITY, X-LINKED | ClinVar Annotator: match by term: Warfarin sensitivity, X-linked OMIM
ClinVar		 PMID:2066105 PMID:2370049 PMID:2472424 PMID:2762170 PMID:2773937 More... NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          warfarin sensitivity 6
            X-linked warfarin sensitivity 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                warfarin sensitivity 6
                  X-linked warfarin sensitivity 1
paths to the root