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ONTOLOGY REPORT - ANNOTATIONS


Term:hemophilia B
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Accession:DOID:12259 term browser browse the term
Definition: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 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;   deficiency, functional factor IX;   hemophilia Bs (M);   plasma thromboplastin component deficiency
 narrow_synonym: HEMOPHILIA B LEYDEN;   PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY HEMOPHILIA B(M)
 primary_id: MESH:D002836
 alt_id: OMIA:000438;   OMIM:306900;   RDO:0005214
 xref: GARD:8732;   NCI:C26721
For additional species annotation, visit the Alliance of Genome Resources.


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hemophilia B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp11c ATPase phospholipid transporting 11C JBrowse link X 143,340,712 143,525,588 RGD:8554872
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:11565076
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:9685705
RGD:8554872
RGD:7240710
RGD:10450759
RGD:10450760
RGD:10450761
RGD:10450762
RGD:10450764
RGD:11554173
G LOC688842 hypothetical protein LOC688842 JBrowse link X 143,554,334 143,596,247 RGD:8554872
G Mcf2 MCF.2 cell line derived transforming sequence JBrowse link X 143,159,071 143,292,467 RGD:8554872
G Sox3 SRY-box transcription factor 3 JBrowse link X 144,035,162 144,037,364 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      hematopoietic system disease 1426
        hemorrhagic disease 430
          hemophilia B 6
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            X-linked monogenic disease 846
              X-linked recessive disease 210
                hemophilia B 6
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.