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.
An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time.
DNA:missense:exon:C571S DNA:polymorphism:promoter:-46C>T(human) DNA:missense, nonsense, deletion mutations:cds: DNA:deletion mutations, transversion mutation:introns, exon: ClinVar Annotator: match by term: Hageman factor deficiency ClinVar Annotator: match by OMIM:234000 ClinVar Annotator: match by term: Factor XII deficiency disease ClinVar Annotator: match by term: Factor 12 deficiency
ClinVar Annotator: match by term: Hageman factor deficiency ClinVar Annotator: match by term: Factor 12 deficiency ClinVar Annotator: match by term: Factor XII deficiency disease