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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 VIII Defect
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Accession:DOID:9003305 term browser browse the term
Definition:A disease associated with markedly elevated F8 levels and severe thrombophilia. Caused by mutation in the F8 gene on chromosome Xq28.
Synonyms:exact_synonym: THPH13
 primary_id: OMIM:301071



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      hematopoietic system disease 3342
        blood coagulation disease 956
          thrombophilia 75
            X-Linked Thrombophilia due to Factor VIII Defect 1
Path 2
Term Annotations click to browse term
  disease 21142
    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 VIII Defect 1
paths to the root