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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:autosomal hemophilia A
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Accession:DOID:0111823 term browser browse the term
Definition:A blood coagulation disease characterized by autosomal inheritence of a Factor VIII deficiency. (DO)
Synonyms:exact_synonym: autosomal factor VIII deficiency
 narrow_synonym: MILD HEMOPHILIA A
 primary_id: OMIM:134500


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autosomal hemophilia A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Mild hemophilia A ClinVar PMID:29357978 NCBI chr  X:144,316,192...144,505,773
Ensembl chr  X:154,156,873...154,341,317 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      hematopoietic system disease 3221
        blood coagulation disease 930
          Coagulation Protein Disorders 96
            factor VIII deficiency 25
              autosomal hemophilia A 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            X-linked monogenic disease 1375
              X-linked recessive disease 586
                factor VIII deficiency 25
                  autosomal hemophilia A 1
paths to the root