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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: Hemophilia B ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 NCBI chr  X:143,340,712...143,525,588
Ensembl chr  X:143,346,252...143,453,612
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Hereditary factor IX deficiency disease
ClinVar Annotator: match by term: Hemophilia B
ClinVar PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 PMID:1671991 PMID:1908096 PMID:1924291 PMID:1979502 PMID:2104741 PMID:2106480 PMID:2493803 PMID:2498882 PMID:2506948 PMID:2833855 PMID:2987704 PMID:6438527 PMID:7728145 PMID:7794769 PMID:8281136 PMID:8307558 PMID:8449505 PMID:8490618 PMID:8547094 PMID:8584995 PMID:8639447 PMID:8644728 PMID:9326186 PMID:9452104 PMID:9569189 PMID:9829908 PMID:9886318 PMID:10338101 PMID:10404764 PMID:10519986 PMID:10896236 PMID:10910910 PMID:11102988 PMID:11298607 PMID:11341489 PMID:11410838 PMID:11442643 PMID:11843836 PMID:11857744 PMID:12139751 PMID:12204009 PMID:12871415 PMID:15569173 PMID:15625837 PMID:15810915 PMID:15921397 PMID:15996930 PMID:16128892 PMID:16173970 PMID:16601827 PMID:16769589 PMID:16786531 PMID:16834740 PMID:16972227 PMID:17222201 PMID:17445092 PMID:17610549 PMID:18034822 PMID:18387975 PMID:18403393 PMID:18565236 PMID:18600086 PMID:18691168 PMID:19456877 PMID:19473408 PMID:19473423 PMID:19719828 PMID:20102490 PMID:20193250 PMID:20300295 PMID:20331753 PMID:20533009 PMID:20800587 PMID:21070499 PMID:21371196 PMID:21751985 PMID:21838755 PMID:21883705 PMID:23625609 PMID:23812942 PMID:25741868 PMID:25824987 PMID:29296726 PMID:31064749 NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
JBrowse link
G F9 coagulation factor IX treatment ISO 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
ClinVar Annotator: match by term: Hemophilia b(m)
ClinVar Annotator: match by OMIM:306900
ClinVar Annotator: match by synonym: Hemophilia B Leyden
ClinVar Annotator: match by synonym: HEMOPHILIA B(M)
ClinVar Annotator: match by term: Hemophilia B Brandenburg
DNA:nonsense mutation:cds:p.R338X (human)
DNA:mutations:cds:P.G396R,K411X,I397T(human)
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:734633 PMID:884315 PMID:1346483 PMID:1346975 PMID:1357229 PMID:1579901 PMID:1598234 PMID:1615485 PMID:1615486 PMID:1631121 PMID:1631558 PMID:1680287 PMID:1733855 PMID:1864609 PMID:1873221 PMID:1897528 PMID:1902289 PMID:1958666 PMID:1968152 PMID:1969838 PMID:1972560 PMID:1986380 PMID:1998585 PMID:2004020 PMID:2066105 PMID:2087690 PMID:2093364 PMID:2111833 PMID:2198809 PMID:2220823 PMID:2270538 PMID:2320433 PMID:2339358 PMID:2342576 PMID:2352926 PMID:2355000 PMID:2370049 PMID:2372509 PMID:2388855 PMID:2438804 PMID:2450455 PMID:2472424 PMID:2494175 PMID:2563663 PMID:2564457 PMID:2592373 PMID:2714791 PMID:2738071 PMID:2741941 PMID:2743975 PMID:2752109 PMID:2753873 PMID:2757966 PMID:2762170 PMID:2773937 PMID:2775660 PMID:2821070 PMID:2831715 PMID:2841226 PMID:2846283 PMID:2848757 PMID:2873459 PMID:2875754 PMID:2886685 PMID:2917196 PMID:2929599 PMID:2992643 PMID:3009023 PMID:3029178 PMID:3181127 PMID:3243764 PMID:3262389 PMID:3392024 PMID:3401602 PMID:3411192 PMID:3416069 PMID:3790720 PMID:3857619 PMID:4033760 PMID:4045960 PMID:4163943 PMID:5298508 PMID:5450691 PMID:6603618 PMID:6843667 PMID:7062952 PMID:7101232 PMID:7482402 PMID:7677806 PMID:7734378 PMID:7873393 PMID:7937052 PMID:8055323 PMID:8091381 PMID:8178822 PMID:8199596 PMID:8217825 PMID:8251390 PMID:8257988 PMID:8304338 PMID:8314564 PMID:8318985 PMID:8320491 PMID:8352232 PMID:8365725 PMID:8392713 PMID:8412791 PMID:8434583 PMID:8470048 PMID:8478007 PMID:8499919 PMID:8499951 PMID:8594556 PMID:8680410 PMID:8772212 PMID:8825645 PMID:9222764 PMID:9450791 PMID:9525872 PMID:9590153 PMID:9600455 PMID:10094553 PMID:10595634 PMID:10698280 PMID:10739381 PMID:10874302 PMID:10942410 PMID:10980527 PMID:11013449 PMID:11122099 PMID:11328285 PMID:12588353 PMID:12780784 PMID:12997790 PMID:15086324 PMID:15569175 PMID:15921378 PMID:16270648 PMID:16643212 PMID:17397055 PMID:18479429 PMID:18624698 PMID:19286883 PMID:19522246 PMID:19686262 PMID:19699296 PMID:19815722 PMID:19846852 PMID:20301668 PMID:20695909 PMID:22103590 PMID:22544209 PMID:22639855 PMID:22707612 PMID:23093250 PMID:23472758 PMID:23617593 PMID:24375831 PMID:25326637 PMID:25470321 PMID:25741868 PMID:25851415 PMID:26612714 PMID:27213901 PMID:27529981 PMID:27824213 PMID:28168417 PMID:28492532 PMID:28752769 PMID:28834196 PMID:29993188 PMID:31064749 PMID:32581362, PMID:2041805, PMID:2752145, PMID:2714791, PMID:21122306, PMID:9354664, PMID:20351275 RGD:9685705, RGD:10450759, RGD:10450760, RGD:10450761, RGD:10450762, RGD:10450764 NCBI chr  X:143,097,507...143,141,791
Ensembl chr  X:143,097,525...143,141,794
JBrowse link
G LOC688842 hypothetical protein LOC688842 ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 NCBI chr  X:143,554,334...143,596,247
Ensembl chr  X:143,554,441...143,558,521
JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 NCBI chr  X:143,159,071...143,292,467
Ensembl chr  X:143,154,209...143,274,180
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Hemophilia B ClinVar PMID:2198809 PMID:3029178 PMID:4045960 PMID:8304338 PMID:24375831 PMID:28492532 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      hematopoietic system disease 1751
        hemorrhagic disease 626
          hemophilia B 7
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            X-linked monogenic disease 1012
              X-linked recessive disease 368
                hemophilia B 7
paths to the root