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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 chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      hematopoietic system disease 3344
        blood coagulation disease 959
          Coagulation Protein Disorders 102
            factor VIII deficiency 31
              autosomal hemophilia A 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            X-linked monogenic disease 1363
              X-linked recessive disease 581
                factor VIII deficiency 31
                  autosomal hemophilia A 1
paths to the root