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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 hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. (DO)
Synonyms:exact_synonym: Christmas disease;   F9 Deficiency;   F9 deficiencies;   HEMB;   HEMOPHILIA B, FACTOR IX DEFICIENCY;   Haemophilia B;   congenital factor IX deficiency;   congenital factor IX disorder;   factor IX deficiencies;   factor IX deficiency;   functional factor IX deficiency,;   hemophilia B(M);   hereditary factor IX deficiency disease;   plasma thromboplastin component deficiency
 narrow_synonym: hemophilia B Brandenburg;   hemophilia B Leyden;   plasma thromboplastin component deficiency hemophilia B(M)
 xref: EFO:0009154;   GARD:8732;   ICD10CM:D67;   ICD9CM:286.1;   MESH:D002836;   MIM:306900;   MONDO:0010604;   NCI:C26721;   OMIA:000438;   ORDO:98879
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 Cxhxorf66 similar to human chromosome X open reading frame 66 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 F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:98,051,958...98,065,246
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: Hereditary factor IX deficiency disease ClinVar PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 More... NCBI chr18:155,237...187,186
Ensembl chr18:140,955...171,857 		JBrowse link
G F9 coagulation factor IX treatment ISO
ISS		 DNA:nonsense mutation:cds:p.R338X (human)
DNA:mutations:cds:P.G396R,K411X,I397T(human)
CTD Direct Evidence: marker/mechanism
OMIM:306900
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		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:734633 PMID:884315 PMID:1346077 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 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...139,310,687
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 19138
    disease of anatomical entity 18451
      hematopoietic system disease 3836
        blood coagulation disease 1445
          Coagulation Protein Disorders 512
            hemophilia B 7
Path 2
Term Annotations click to browse term
  disease 19138
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13713
        genetic disease 13378
          monogenic disease 10937
            X-linked monogenic disease 1456
              X-linked recessive disease 871
                hemophilia B 7
paths to the root