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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 thrombophilia due to factor IX defect
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Accession:DOID:0111899 term browser browse the term
Definition:A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. (DO)
Synonyms:exact_synonym: THPH8
 narrow_synonym: protection against deep venous thrombosis
 primary_id: MESH:C567581
 alt_id: OMIM:300807



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X-linked thrombophilia due to factor IX defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombophilia, X-linked, due to factor IX defect
OMIM
CTD
ClinVar
PMID:734633 PMID:1346077 PMID:1346975 PMID:1615486 PMID:1680287 More... NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      hematopoietic system disease 3341
        blood coagulation disease 955
          thrombophilia 75
            X-linked thrombophilia due to factor IX defect 1
Path 2
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        genetic disease 18264
          monogenic disease 10276
            X-linked monogenic disease 1363
              X-linked thrombophilia due to factor IX defect 1
paths to the root