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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: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 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)
 primary_id: MESH:D002836
 alt_id: OMIA:000438;   OMIM:306900
 xref: GARD:8732;   ICD10CM:D67;   ICD9CM:286.1;   NCI:C26721;   ORDO:98879
For additional species annotation, visit the Alliance of Genome Resources.



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hemophilia B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,564,459...138,752,116
Ensembl chr  X:138,565,836...138,751,204
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G F8 coagulation factor VIII ISO 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 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
JBrowse link
G F9 coagulation factor IX treatment ISO 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
ClinVar
OMIM
CTD
RGD
PMID:734633 PMID:884315 PMID:1346483 PMID:1346975 PMID:1357229 More... RGD:9685705, RGD:10450759, RGD:10450760, RGD:10450761, RGD:10450762, RGD:10450764 NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835
JBrowse link
G LOC688842 hypothetical protein LOC688842 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707
JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chr  X:139,308,608...139,310,734
Ensembl chr  X:139,309,329...139,310,678
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      hematopoietic system disease 2693
        blood coagulation disease 831
          Inherited Blood Coagulation Disease 165
            hemophilia B 7
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            X-linked monogenic disease 1182
              X-linked recessive disease 439
                hemophilia B 7
paths to the root