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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      hematopoietic system disease 1913
        hemorrhagic disease 638
          factor VIII deficiency 26
            autosomal hemophilia A 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            X-linked monogenic disease 1022
              X-linked recessive disease 381
                factor VIII deficiency 26
                  autosomal hemophilia A 1
paths to the root