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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 chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      hematopoietic system disease 1653
        hemorrhagic disease 611
          factor VIII deficiency 25
            autosomal hemophilia A 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            X-linked monogenic disease 923
              X-linked recessive disease 284
                factor VIII deficiency 25
                  autosomal hemophilia A 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.