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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 blood coagulation disease 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;   Hemophilia B Brandenburg;   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 LEYDEN;   plasma thromboplastin component deficiency hemophilia B(M)
 primary_id: MESH:D002836
 alt_id: OMIA:000438;   OMIM:306900
 xref: EFO:0009154;   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 chrNW_004955489:5,394,553...5,567,295
Ensembl chrNW_004955489:5,394,357...5,567,405 		JBrowse link
G CUNHXorf66 chromosome unknown CXorf66 homolog ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 More... NCBI chrNW_004955489:5,318,531...5,327,883 JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517 		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 chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865 		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 OMIM
RGD
ClinVar		 PMID:734633 PMID:884315 PMID:1346077 PMID:1346975 PMID:1357229 More... RGD:10450761 RGD:10450764 NCBI chrNW_004955489:5,747,718...5,780,899
Ensembl chrNW_004955489:5,749,187...5,780,866 		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 chrNW_004955489:5,613,310...5,715,688
Ensembl chrNW_004955489:5,665,530...5,709,891 		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 chrNW_004955489:4,817,753...4,819,858
Ensembl chrNW_004955489:4,817,753...4,819,131 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      hematopoietic system disease 2941
        blood coagulation disease 847
          Inherited Blood Coagulation Disease 186
            hemophilia B 7
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9437
            X-linked monogenic disease 1196
              X-linked recessive disease 524
                hemophilia B 7
paths to the root