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.
A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)
Synonyms:
exact_synonym:
Christmas disease; F9 Deficiency; F9 deficiencies; Factor IX Deficiency; HEMB; HEMOPHILIA B, FACTOR IX DEFICIENCY; Haemophilia B; Hemophilia B Brandenburg; Hemophilia B(M); congenital factor IX deficiency; congenital factor IX disorder; factor IX deficiencies; functional factor IX deficiency,; hereditary factor IX deficiency disease; plasma thromboplastin component deficiency
narrow_synonym:
HEMOPHILIA B LEYDEN; plasma thromboplastin component deficiency hemophilia B(M)
ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B Brandenburg | ClinVar Annotator: match by term: Hemophilia B Leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease DNA:nonsense mutation:cds:p.R338X (human) DNA:mutations:cds:P.G396R,K411X,I397T(human) CTD Direct Evidence: marker/mechanism
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