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MCID: HMP004
MIFTS: 67

Hemophilia B

Categories: Genetic diseases, Rare diseases, Blood diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Hemophilia B

About this section

MalaCards integrated aliases for Hemophilia B:

Name: Hemophilia B 57 12 24 53 59 75 29 13 55 6 44 15 40 73
Factor Ix Deficiency 57 12 24 53 59 75
Christmas Disease 57 76 24 53 59 75
Plasma Thromboplastin Component Deficiency 57 75
F9 Deficiency 57 75
Hemb 57 75
Symptomatic Form of Hemophilia B in Female Carriers 59
Moderately Severe Factor Ix Deficiency 59
Deficiency, Functional Factor Ix 12
Congenital Factor Ix Deficiency 12
Recessive X-Linked Hemophilia B 75
Moderately Severe Hemophilia B 59
Congenital Factor Ix Disorder 12
Severe Factor Ix Deficiency 59
Mild Factor Ix Deficiency 59
Severe Hemophilia B 59
Mild Hemophilia B 59
Hem B 53

Characteristics:

Orphanet epidemiological data:

59
hemophilia b
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;
mild hemophilia b
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;
moderately severe hemophilia b
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;
severe hemophilia b
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;
symptomatic form of hemophilia b in female carriers
Inheritance: X-linked recessive;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
patient with factor ix leyden variants (see, e.g., ) have bleeding in childhood that improves or resolves after puberty
patients with hemophilia b(m) variants (see, e.g., ) also have prolonged pt
phenotypically indistinguishable from hemophilia a


HPO:

32
hemophilia b:
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance All males with an f9 pathogenic variant are affected and will have hemophilia b of approximately the same severity as all other affected males in the family; however, other genetic and environmental effects may modify the clinical severity to some extent...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare haematological diseases


External Ids:

OMIM 57 306900
Disease Ontology 12 DOID:12259
ICD10 33 D67
ICD9CM 35 286.1
MeSH 44 D002836
NCIt 50 C26721
ICD10 via Orphanet 34 D67
MESH via Orphanet 45 D002836
UMLS via Orphanet 74 C0008533
UMLS 73 C0008533
Sources

Summaries for Hemophilia B

About this section
OMIM : 57 Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A (306700), which results from deficiency of coagulation factor VIII (F8; 300841). The classic laboratory findings in hemophilia B include a prolonged activated partial thromboplastin time (aPTT) and a normal prothrombin time (PT) (Lefkowitz et al., 1993). Early studies made a distinction between cross-reactive-material (CRM)-negative and CRM-positive hemophilia B mutants. This classification referred to detection of the F9 antigen in plasma, even in the presence of decreased F9 activity. Detection of the antigen indicated the presence of a dysfunctional F9 protein. Roberts et al. (1968) found that about 90% of patients with hemophilia B were CRM-negative, whereas about 10% were CRM-positive. However, Bertina and Veltkamp (1978) found that a rather large proportion of the hemophilia B patients could be characterized as hemophilia B CRM+. They identified 14 cases of hemophilia B CRM+ from 11 families among a group of 33 patients. After immunologic and activity comparisons, they found at least 7 different factor IX variants. Bertina and Veltkamp (1978) noted the high heterogeneity within this group. In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX had been identified. At least one variant of factor VII (Padua) was also known. (306900)

MalaCards based summary : Hemophilia B, also known as factor ix deficiency, is related to hemophilia and compartment syndrome. An important gene associated with Hemophilia B is F9 (Coagulation Factor IX), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Hyaluronic acid and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes, and related phenotypes are hematuria and poor wound healing

Disease Ontology : 12 An inherited 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.

NIH Rare Diseases : 53 Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene.

UniProtKB/Swiss-Prot : 75 Hemophilia B: An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma.

Wikipedia : 76 Haemophilia B is a blood clotting disorder causing easy bruising and bleeding due to an inherited... more...

GeneReviews: NBK1495
Sources

Related Diseases for Hemophilia B

About this section

Diseases in the Hemophilia family:

Hemophilia a Hemophilia B
Acquired Hemophilia Acquired Hemophilia a
Severe Hemophilia a

Diseases related to Hemophilia B via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 171)
# Related Disease Score Top Affiliating Genes
1 hemophilia 31.5 F2 F3 F7 F8 F9
2 compartment syndrome 30.1 F2 F8
3 x-linked disease 29.9 F8 F9
4 central retinal vein occlusion 29.8 F2 SERPINC1
5 arteries, anomalies of 29.5 F2 F3 SERPINC1
6 retinal vein occlusion 29.5 F2 SERPINC1
7 hemarthrosis 28.7 F10 F7 F8 F9
8 von willebrand's disease 28.7 F11 F2 F3 F8 F9
9 thrombosis 28.2 F10 F2 F3 F9 SERPINC1
10 hemophilia a 28.2 F10 F11 F3 F7 F8 F9
11 disseminated intravascular coagulation 27.9 F2 F3 F7 F9 SERPINC1
12 thrombophilia due to thrombin defect 27.9 F10 F2 F3 F8 SERPINC1
13 factor vii deficiency 26.6 EGF F10 F2 F3 F7 F8
14 myocardial infarction 26.2 F10 F11 F2 F3 F7 F8
15 thrombophilia 25.7 F10 F11 F2 F3 F7 F8
16 cerebral falx meningioma 10.6 F2 F3
17 cerebral sinovenous thrombosis 10.6 F2 F3
18 qualitative platelet defect 10.6 F2 F3
19 femoral neuropathy 10.6 F2 F3
20 hantavirus pulmonary syndrome 10.6 F2 F3
21 splenic disease 10.6 F2 F3
22 vitamin k deficiency hemorrhagic disease 10.5 F2 F8
23 multicentric castleman disease 10.5 F3 F8
24 factor xiii deficiency 10.5 F3 F8
25 endocardium disease 10.5 F2 F3
26 carotid artery thrombosis 10.5 F10 F3
27 analbuminemia 10.5 F2 F3
28 mild hemophilia a 10.5 F10 F8
29 squamous cell papilloma 10.5 F2 F3
30 mesenteric vascular occlusion 10.4 F2 F7
31 lemierre's syndrome 10.4 F11 F3
32 scott syndrome 10.4 F10 F2
33 malignant skin fibrous histiocytoma 10.4 F7 F9
34 von willebrand disease, type 2 10.4 F7 F8
35 ischemic heart disease 10.4 F2 F7
36 malignant dermis tumor 10.3 F7 F9
37 congenital disorder of glycosylation, type ia 10.3 F9 SERPINC1
38 spinal cord infarction 10.3 F2 SERPINC1
39 sudden sensorineural hearing loss 10.3 F2 SERPINC1
40 blood protein disease 10.3 F2 SERPINC1
41 dengue hemorrhagic fever 10.3 F2 F3
42 alpha-2-plasmin inhibitor deficiency 10.3 F2 SERPINC1
43 angina pectoris 10.3 F3 SERPINC1
44 ischemic colitis 10.3 F2 SERPINC1
45 anterior spinal artery syndrome 10.3 F2 SERPINC1
46 subendocardial myocardial infarction 10.3 F2 SERPINC1
47 sneddon syndrome 10.3 F2 SERPINC1
48 placental insufficiency 10.3 F2 F3
49 coronary thrombosis 10.3 F3 SERPINC1
50 esophageal varix 10.3 F2 SERPINC1

Graphical network of the top 20 diseases related to Hemophilia B:



Diseases related to Hemophilia B
Sources

Symptoms & Phenotypes for Hemophilia B

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Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
platelet count normal
ptt prolonged
pt normal
platelet function normal
factor ix deficiency

Hematology:
factor ix deficiency


Clinical features from OMIM:

306900

Human phenotypes related to Hemophilia B:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000790
2 poor wound healing 59 32 hallmark (90%) Very frequent (99-80%) HP:0001058
3 intracranial hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002170
4 prolonged bleeding time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003010
5 prolonged partial thromboplastin time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003645
6 spontaneous, recurrent epistaxis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004406
7 prolonged bleeding after surgery 59 32 hallmark (90%) Very frequent (99-80%) HP:0004846
8 joint hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0005261
9 prolonged bleeding after dental extraction 59 32 hallmark (90%) Very frequent (99-80%) HP:0006298
10 reduced factor ix activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0011858
11 intramuscular hematoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012233
12 cephalohematoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012541
13 delayed onset bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0040232
14 menometrorrhagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0400008
15 abnormal bleeding 32 HP:0001892
16 persistent bleeding after trauma 32 HP:0001934
17 gastrointestinal hemorrhage 32 HP:0002239
18 osteoarthritis 32 HP:0002758
19 prolonged whole-blood clotting time 32 HP:0005542

MGI Mouse Phenotypes related to Hemophilia B:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 F7 F9 SERPINC1 F10 F11 F2
2 homeostasis/metabolism MP:0005376 9.76 F3 F7 F8 F9 SERPINC1 F10
3 immune system MP:0005387 9.5 F3 F8 F9 EGF SERPINC1 F11
4 mortality/aging MP:0010768 9.23 F3 F7 F8 F9 SERPINC1 F10
Sources

Drugs & Therapeutics for Hemophilia B

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Drugs for Hemophilia B (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
3
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
4
Thrombin Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable
5
Didanosine Approved Phase 4 69655-05-6 50599
6
Indinavir Approved Phase 4 150378-17-9 5362440
7
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
8
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
9
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
10
Zidovudine Approved Phase 4 30516-87-1 35370
11
Protein C Approved Phase 4,Phase 3,Not Applicable
12
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 4 53-43-0 9860744
13 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
14 Pharmaceutical Solutions Phase 4,Phase 3,Early Phase 1
15 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
16 Adjuvants, Immunologic Phase 4
17 Hylan Phase 4
18 Protective Agents Phase 4
19 triamcinolone acetonide Phase 4
20 Triamcinolone diacetate Phase 4
21 Triamcinolone hexacetonide Phase 4
22 Viscosupplements Phase 4
23 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Hemostatics Phase 4,Phase 3,Phase 1,Not Applicable
25 Anti-HIV Agents Phase 4,Phase 1
26 Anti-Infective Agents Phase 4,Phase 1
27 Antimetabolites Phase 4
28 Anti-Retroviral Agents Phase 4,Phase 1
29 Antiviral Agents Phase 4,Phase 1
30 HIV Protease Inhibitors Phase 4,Phase 3,Phase 1
31 Nucleic Acid Synthesis Inhibitors Phase 4
32
protease inhibitors Phase 4,Phase 3,Phase 1
33 Reverse Transcriptase Inhibitors Phase 4
34 DHEA (Dehydroepiandrosterone) Nutraceutical Phase 4
35
Bivalirudin Approved, Investigational Phase 3 128270-60-0 16129704
36
Menadione Approved, Nutraceutical Phase 3,Not Applicable 58-27-5 4055
37
Phytonadione Approved, Investigational, Nutraceutical Phase 3,Not Applicable 84-80-0 4812 5284607
38
Serine Approved, Nutraceutical Phase 3,Phase 1 56-45-1 5951
39 Antibodies Phase 3
40 Immunoglobulin Fc Fragments Phase 3
41 Immunoglobulins Phase 3
42 Antifibrinolytic Agents Phase 3,Not Applicable
43 Fibrinolytic Agents Phase 3,Phase 2,Phase 1,Not Applicable
44 Micronutrients Phase 3,Not Applicable
45 protein S Phase 3,Not Applicable
46 Trace Elements Phase 3,Not Applicable
47 Vitamins Phase 3,Not Applicable
48 Antithrombin III Phase 3,Phase 1,Not Applicable
49 Antithrombins Phase 3,Phase 1,Not Applicable
50 Serine Proteinase Inhibitors Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 196)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4 Benefix
2 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
3 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4 human coagulation Factor IX
4 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
5 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
6 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
7 Safety and Efficacy of Activated Recombinant Human Factor VII in Haemophilia Patients With Inhibitors During and After Major Surgery Completed NCT01561391 Phase 4 activated recombinant human factor VII;activated recombinant human factor VII;factor VIII
8 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
9 High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors Completed NCT00571584 Phase 4 activated recombinant human factor VII
10 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
11 Efficacy and Safety of Prothromplex Total (Prothrombin Complex Concentrate) in Oral Anticoagulant Reversal Completed NCT01159210 Phase 4
12 Dehydroepiandrosterone (DHEA)Supplementation Pre-IVF(In Vitro Fertilization) Cycles Completed NCT02866253 Phase 4 DHEA
13 Effect of Indinavir Plus Two Other Anti-HIV Drugs on Blood Clotting in HIV-Positive Males With Hemophilia Completed NCT00002386 Phase 4 Indinavir sulfate;Lamivudine;Stavudine;Zidovudine;Zalcitabine;Didanosine
14 Prothrombin Complex Concentrate Versus Fresh Frozen Plasma to Correct Coagulation Disorders in Adult Neurosurgical Patients Recruiting NCT02777424 Phase 4 Prothrombin Complex Concentrate
15 RIXUBIS INDIA PMC Study Not yet recruiting NCT03565237 Phase 4
16 Pivotal Study (Pharmacokinetics, Efficacy, Safety) of BAX 326 (rFIX) in Hemophilia B Patients Completed NCT01174446 Phase 3
17 An Open-study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Subjects Undergoing Surgery Completed NCT02250573 Phase 3
18 A Study to Compare the Pharmacokinetics and Safety of Replenine®-VF, Replenine® or Other Factor IX in Haemophilia B Completed NCT02263456 Phase 3
19 Study To Compare On-Demand Treatment To A Prophylaxis Regimen Of BeneFIX In Subjects With Moderately Severe to Severe Hemophilia B Completed NCT01335061 Phase 3
20 Study Evaluating On-Demand Treatment With BeneFIX In Chinese Subjects Completed NCT00866606 Phase 3
21 A Study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Patients Under the Age of 6 Years Completed NCT02263469 Phase 3
22 Study of Recombinant Factor IX Product, IB1001, in Previously Treated Pediatric Subjects With Hemophilia B Completed NCT01271868 Phase 3 Recombinant factor IX Product, IB1001
23 Study of Recombinant Coagulation Factor IX Fc Fusion Protein, BIIB029, in Previously Treated Pediatric Participants With Hemophilia B Completed NCT01440946 Phase 3 rFIXFc;FIX
24 BAX 326 Surgery Study in Hemophilia B Patients Completed NCT01507896 Phase 3
25 Study of Recombinant Factor IX Fc Fusion Protein (rFIXFc) in Participants With Hemophilia B Completed NCT01027364 Phase 3 Factor IX (rFIXFc);rFIX
26 A Study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Patients Undergoing Major Surgery. Completed NCT02250560 Phase 3
27 A Safety and Efficacy Study of a Recombinant Fusion Protein Linking Coagulation Factor IX With Albumin (rIX-FP) in Patients With Hemophilia B Completed NCT01496274 Phase 2, Phase 3
28 Study Evaluating rFIX; BeneFIX in Severe Hemophilia B Completed NCT00037557 Phase 3 BeneFIX
29 A Safety, Efficacy and Pharmacokinetics Study of a Recombinant Fusion Protein Linking Coagulation Factor IX With Albumin (rIX-FP) in Children With Hemophilia B Completed NCT01662531 Phase 3
30 Study Comparing On-Demand Treatment With Two Prophylaxis Regimens Of BeneFIX In Patients With Severe Hemophilia B Completed NCT00364182 Phase 3 Recombinant Coagulation Factor IX (BeneFIX);Recombinant Coagulation Factor IX (BeneFIX)
31 An Open Study to Investigate the Safety and Efficacy of Replenine®-VF in Severe Haemophilia B Patients Completed NCT02231944 Phase 3
32 Safety and Efficacy of NNC-0156-0000-0009 in Haemophilia B Patients Completed NCT01333111 Phase 3 nonacog beta pegol;nonacog beta pegol;nonacog beta pegol
33 Long-Term Safety and Efficacy of rFIXFc in the Prevention and Treatment of Bleeding Episodes in Previously Treated Participants With Hemophilia B Completed NCT01425723 Phase 3
34 Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B Completed NCT00768287 Phase 2, Phase 3
35 Safety and Efficacy of NNC-0156-0000-0009 After Long-Term Exposure in Patients With Haemophilia B: An Extension to Trials NN7999-3747 and NN7999-3773 Completed NCT01395810 Phase 3 nonacog beta pegol;nonacog beta pegol;nonacog beta pegol
36 Study Evaluating rFIX; BeneFIX® in Hemophilia B Completed NCT00093171 Phase 3 rFIX
37 Efficacy and Safety of NNC-0156-0000-0009 During Surgical Procedures in Subjects With Haemophilia B Completed NCT01386528 Phase 3 nonacog beta pegol
38 BAX 326 (rFIX) Continuation Study Completed NCT01286779 Phase 3
39 Study Evaluating of Recombinant Human Factor IX (BeneFIX) and a New Formulation of BeneFIX (rFIX-R) in Moderate to Severe Hemophilia B Completed NCT00093210 Phase 3 rFIX;rFIX-R
40 BAX 326 Pediatric Study Completed NCT01488994 Phase 2, Phase 3
41 Recombinant Factor VIIa BI (rFVIIa BI) Treatment of Acute Bleeding Episodes Per an On-demand Regimen Completed NCT01757405 Phase 3
42 Efficacy and Safety Study of Prophylactic Versus On-Demand Treatment With Feiba NF in Subjects With Hemophilia A or B and a High Titer Inhibitor Completed NCT00851721 Phase 3
43 A Phase 2/ 3 Trial to Evaluate the Efficacy and Safety of BAY86-6150 Completed NCT01625390 Phase 2, Phase 3 BAY86-6150;eptacog alfa [activated];BAY86-6150
44 Cooperative Study of Factor VIII Inhibitors Completed NCT00000582 Phase 3 factor ix
45 Phase III Study of Coagulation FVIIa (Recombinant) in Congenital Hemophilia A or B Patients With Inhibitors Completed NCT02020369 Phase 3
46 Efficacy and Safety of NNC 0078-0000-0007 in Patients With Congenital Haemophilia and Inhibitors Completed NCT01392547 Phase 3 vatreptacog alfa (activated);eptacog alfa (activated)
47 LR769 in Congenital Hemophilia Patients With Inhibitors Undergoing Elective Surgery or Invasive Procedures Completed NCT02548143 Phase 3
48 An Open-label, Randomized, Multicenter Phase IIIb Study to Assess the Efficacy, Safety and Tolerance of BERIPLEX® P/N (Kcentra) Compared With Plasma for Rapid Reversal of Coagulopathy Induced by Vitamin K Antagonists in Subjects Requiring an Urgent Surgic Completed NCT00803101 Phase 3
49 Efficacy and Safety Study of BERIPLEX® P/N (Kcentra) Compared With Plasma in Patients With Acute Major Bleeding Caused by Anticoagulant Therapy Completed NCT00708435 Phase 3
50 HOPE-B: Trial of AMT-061 in Severe or Moderately Severe Hemophilia B Patients Recruiting NCT03569891 Phase 3

Search NIH Clinical Center for Hemophilia B

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: hemophilia b

Sources

Genetic Tests for Hemophilia B

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Genetic tests related to Hemophilia B:

# Genetic test Affiliating Genes
1 Hemophilia B(m) 29
Sources

Anatomical Context for Hemophilia B

About this section

MalaCards organs/tissues related to Hemophilia B:

41
Liver, Brain, Testes, Bone, Skeletal Muscle, Whole Blood, Breast
Sources

Publications for Hemophilia B

About this section

Articles related to Hemophilia B:

(show top 50) (show all 599)
# Title Authors Year
1
Complete correction of hemophilia B phenotype by FIX-Padua skeletal muscle gene therapy in an inhibitor-prone dog model. ( 29500218 )
2018
2
Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B. ( 29388273 )
2018
3
Real-World Analysis of Dispensed IUs of Coagulation Factor IX and Resultant Expenditures in Hemophilia B Patients Receiving Standard Half-life Versus Extended Half-life Products and Those Switching from Standard Half-life to Extended Half-life Products. ( 29363389 )
2018
4
Designer nuclease-mediated gene correction via homology-directed repair in an in vitro model of canine hemophilia B. ( 29608237 )
2018
5
Impact of hemophilia B on quality of life in affected men, women, and caregivers-Assessment of patient-reported outcomes in the B-HERO-S study. ( 29505680 )
2018
6
Practical Implications of Factor IX Gene Transfer for Individuals with Hemophilia B: A Clinical Perspective. ( 29624465 )
2018
7
Autologous and Heterologous Cell Therapy for Hemophilia B toward Functional Restoration of Factor IX. ( 29719266 )
2018
8
Bypassing Agents for Bleeding Prophylaxis in Hemophilia B: A Clinical Conundrum? ( 29746288 )
2018
9
Inhibitors in Hemophilia B. ( 29925096 )
2018
10
Human iPS Cell-based Liver-like Tissue Engineering at Extrahepatic Sites in Mice as a New Cell Therapy for Hemophilia B. ( 29637813 )
2018
11
Manual therapy in the treatment of patients with hemophilia B and inhibitor. ( 29357868 )
2018
12
Trenonacog alfa for prophylaxis, on-demand and perioperative management of hemophilia B. ( 29172774 )
2018
13
Targeted genome engineering in human induced pluripotent stem cells from patients with hemophilia B using the CRISPR-Cas9 system. ( 29625575 )
2018
14
The benefits of prophylaxis in patients with hemophilia B. ( 29909699 )
2018
15
The State of Skewed X Chromosome Inactivation is Retained in the Induced Pluripotent Stem Cells from a Female with Hemophilia B. ( 28401797 )
2017
16
Closing In on Treatment for Hemophilia B. ( 29211662 )
2017
17
Repeated Diffuse Alveolar Hemorrhage in a Patient with Hemophilia B. ( 28202865 )
2017
18
Modulating immunogenicity of factor IX by fusion to an immunoglobulin Fc domain: a study using a hemophilia B mouse model. ( 28166609 )
2017
19
Management of US men, women, and children with hemophilia and methods and demographics of the Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319338 )
2017
20
Neonatal Gene Therapy for Hemophilia B by a Novel Adenovirus Vector Showing Reduced Leaky Expression of Viral Genes. ( 28828393 )
2017
21
In silico evaluation of limited blood sampling strategies for individualized recombinant factor IX prophylaxis in hemophilia B patients. ( 28688133 )
2017
22
Evaluating the psychosocial impact of hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319335 )
2017
23
Acute Compartment Syndrome after an Olecranon Fracture in a Patient with Mild Hemophilia B. ( 28819614 )
2017
24
FIX It in One Go: Enhanced Factor IX Gene Therapy for Hemophilia B. ( 29245009 )
2017
25
Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant. ( 29211678 )
2017
26
CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice. ( 28508290 )
2017
27
Impact of mild to severe hemophilia on engagement in recreational activities by US men, women, and children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319336 )
2017
28
Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B. ( 29037559 )
2017
29
Gene therapy with adeno-associated virus vector 5-human factor IX in adults with hemophilia B. ( 29246900 )
2017
30
Hemophilic pseudotumor of the mandible in a patient with hemophilia B. ( 28852852 )
2017
31
Impact of mild to severe hemophilia on education and work by US men, women, and caregivers of children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319337 )
2017
32
The first case report of a patient with coexisting hemophilia B and Down syndrome. ( 28401110 )
2017
33
Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity. ( 28406575 )
2017
34
Recent advances in hemophilia B therapy. ( 28243977 )
2017
35
Oral Tolerance Induction in Hemophilia B Dogs Fed with Transplastomic Lettuce. ( 28153098 )
2017
36
Usual and unusual mutations in a cohort of Belgian patients with hemophilia B. ( 27865967 )
2017
37
Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B. ( 28752769 )
2017
38
A new modeling approach allowing prediction and comparison of the long-term outcomes of treatments for hemophilia B. ( 28556675 )
2017
39
Immune Modulatory Cell Therapy for Hemophilia B Based on CD20-Targeted Lentiviral Gene Transfer to Primary B Cells. ( 28480307 )
2017
40
Genetic Correction and Hepatic Differentiation of Hemophilia B-specific Human Induced Pluripotent Stem Cells. ( 28956740 )
2017
41
Revascularization strategies and in-hospital management in acute coronary syndromes complicated by hemophilia A or hemophilia B. ( 28763308 )
2017
42
Economic Burden of Illness among Persons with Hemophilia B from HUGS Vb: Examining the Association of Severity and Treatment Regimens with Costs and Annual Bleed Rates. ( 28964439 )
2017
43
Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population. ( 29274203 )
2017
44
First case report of hemophilia B Leyden in Japan. ( 28168417 )
2017
45
Survey of the anti-factor IX immunoglobulin profiles in patients with hemophilia B using a fluorescence-based immunoassay. ( 27501440 )
2016
46
First Diagnosis of Hemophilia B in a Nonagenarian. ( 26782891 )
2016
47
Pharmacokinetics, Efficacy, and Safety of Nonacog Alfa in Previously Treated Patients with Moderately Severe to Severe Hemophilia B. ( 26969334 )
2016
48
Transforming the treatment for hemophilia B patients: update on the clinical development of recombinant fusion protein linking recombinant coagulation factor IX with recombinant albumin (rIX-FP). ( 27288064 )
2016
49
Difficulties in the treatment of an Infant with Hemophilia B. ( 27489472 )
2016
50
Long-acting recombinant coagulation factor IX albumin fusion protein (rIX-FP) in hemophilia B: results of a phase 3 trial. ( 26755710 )
2016
Sources

Variations for Hemophilia B

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UniProtKB/Swiss-Prot genetic disease variations for Hemophilia B:

75 (show top 50) (show all 138)
# Symbol AA change Variation ID SNP ID
1 F9 p.Ile17Asn VAR_006521
2 F9 p.Cys28Arg VAR_006522 rs387906481
3 F9 p.Val30Ile VAR_006523
4 F9 p.Arg43Gln VAR_006524
5 F9 p.Arg43Leu VAR_006525
6 F9 p.Arg43Trp VAR_006526
7 F9 p.Lys45Asn VAR_006527
8 F9 p.Arg46Ser VAR_006528
9 F9 p.Arg46Thr VAR_006529
10 F9 p.Asn48Ile VAR_006530
11 F9 p.Ser49Pro VAR_006531
12 F9 p.Glu53Ala VAR_006532
13 F9 p.Glu54Gly VAR_006533
14 F9 p.Phe55Cys VAR_006534
15 F9 p.Gly58Ala VAR_006535
16 F9 p.Gly58Arg VAR_006536
17 F9 p.Glu66Val VAR_006538
18 F9 p.Glu67Lys VAR_006539
19 F9 p.Phe71Ser VAR_006540
20 F9 p.Glu73Lys VAR_006541 rs137852225
21 F9 p.Glu73Val VAR_006542 rs137852226
22 F9 p.Tyr91Cys VAR_006543
23 F9 p.Asp93Gly VAR_006544 rs137852230
24 F9 p.Gln96Pro VAR_006545 rs137852231
25 F9 p.Cys97Ser VAR_006546
26 F9 p.Pro101Arg VAR_006547
27 F9 p.Cys102Arg VAR_006548
28 F9 p.Gly106Ser VAR_006549 rs137852233
29 F9 p.Cys108Ser VAR_006550
30 F9 p.Asp110Asn VAR_006551 rs137852274
31 F9 p.Ile112Ser VAR_006552
32 F9 p.Asn113Lys VAR_006553
33 F9 p.Tyr115Cys VAR_006554
34 F9 p.Cys119Phe VAR_006555
35 F9 p.Cys119Arg VAR_006556
36 F9 p.Gly125Glu VAR_006557
37 F9 p.Gly125Val VAR_006558
38 F9 p.Ile136Thr VAR_006560
39 F9 p.Gly139Asp VAR_006561
40 F9 p.Gly139Ser VAR_006562
41 F9 p.Cys155Phe VAR_006563
42 F9 p.Gly160Glu VAR_006564
43 F9 p.Gln167His VAR_006565
44 F9 p.Cys178Arg VAR_006566
45 F9 p.Cys178Trp VAR_006567
46 F9 p.Arg191His VAR_006568 rs137852238
47 F9 p.Arg191Cys VAR_006569 rs137852237
48 F9 p.Arg226Trp VAR_006570 rs137852240
49 F9 p.Arg226Gly VAR_006571
50 F9 p.Arg226Gln VAR_006572 rs137852241

ClinVar genetic disease variations for Hemophilia B:

6
(show top 50) (show all 193)
# Gene Variation Type Significance SNP ID Assembly Location
1 F9 F9, ARG-4TRP single nucleotide variant Pathogenic
2 F9 F9, ARG-1SER undetermined variant Pathogenic
3 F9 F9, GLU7ASP undetermined variant Pathogenic
4 F9 NM_000133.3(F9): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs137852223 GRCh37 Chromosome X, 138619249: 138619249
5 F9 NM_000133.3(F9): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs137852223 GRCh38 Chromosome X, 139537090: 139537090
6 F9 NM_000133.3(F9): c.52T> C (p.Cys18Arg) single nucleotide variant Pathogenic rs387906474 GRCh37 Chromosome X, 138612975: 138612975
7 F9 NM_000133.3(F9): c.52T> C (p.Cys18Arg) single nucleotide variant Pathogenic rs387906474 GRCh38 Chromosome X, 139530816: 139530816
8 F9 F9, ARG-4GLN single nucleotide variant Pathogenic
9 F9 NM_000133.3(F9): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs387906475 GRCh37 Chromosome X, 138613002: 138613002
10 F9 NM_000133.3(F9): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs387906475 GRCh38 Chromosome X, 139530843: 139530843
11 F9 NM_000133.3(F9): c.218A> T (p.Glu73Val) single nucleotide variant Pathogenic rs137852226 GRCh37 Chromosome X, 138619298: 138619298
12 F9 NM_000133.3(F9): c.218A> T (p.Glu73Val) single nucleotide variant Pathogenic rs137852226 GRCh38 Chromosome X, 139537139: 139537139
13 F9 NM_000133.3(F9): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs137852227 GRCh37 Chromosome X, 138619303: 138619303
14 F9 NM_000133.3(F9): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs137852227 GRCh38 Chromosome X, 139537144: 139537144
15 F9 NM_000133.3(F9): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs137852228 GRCh37 Chromosome X, 138619304: 138619304
16 F9 NM_000133.3(F9): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs137852228 GRCh38 Chromosome X, 139537145: 139537145
17 F9 NM_000133.3(F9): c.237A> C (p.Glu79Asp) single nucleotide variant Pathogenic rs137852229 GRCh37 Chromosome X, 138619317: 138619317
18 F9 NM_000133.3(F9): c.237A> C (p.Glu79Asp) single nucleotide variant Pathogenic rs137852229 GRCh38 Chromosome X, 139537158: 139537158
19 F9 F9, IVS3DS, T-G single nucleotide variant Pathogenic
20 F9 NM_000133.3(F9): c.278A> G (p.Asp93Gly) single nucleotide variant Pathogenic rs137852230 GRCh37 Chromosome X, 138623235: 138623235
21 F9 NM_000133.3(F9): c.278A> G (p.Asp93Gly) single nucleotide variant Pathogenic rs137852230 GRCh38 Chromosome X, 139541076: 139541076
22 F9 NM_000133.3(F9): c.287A> C (p.Gln96Pro) single nucleotide variant Pathogenic rs137852231 GRCh37 Chromosome X, 138623244: 138623244
23 F9 NM_000133.3(F9): c.287A> C (p.Gln96Pro) single nucleotide variant Pathogenic rs137852231 GRCh38 Chromosome X, 139541085: 139541085
24 F9 NM_000133.3(F9): c.301C> G (p.Pro101Ala) single nucleotide variant Pathogenic rs137852232 GRCh37 Chromosome X, 138623258: 138623258
25 F9 NM_000133.3(F9): c.301C> G (p.Pro101Ala) single nucleotide variant Pathogenic rs137852232 GRCh38 Chromosome X, 139541099: 139541099
26 F9 NM_000133.3(F9): c.316G> A (p.Gly106Ser) single nucleotide variant Pathogenic rs137852233 GRCh37 Chromosome X, 138623273: 138623273
27 F9 NM_000133.3(F9): c.316G> A (p.Gly106Ser) single nucleotide variant Pathogenic rs137852233 GRCh38 Chromosome X, 139541114: 139541114
28 F9 NM_000133.3(F9): c.329A> G (p.Asp110Gly) single nucleotide variant Pathogenic rs137852234 GRCh37 Chromosome X, 138623286: 138623286
29 F9 NM_000133.3(F9): c.329A> G (p.Asp110Gly) single nucleotide variant Pathogenic rs137852234 GRCh38 Chromosome X, 139541127: 139541127
30 F9 NM_000133.3(F9): c.479G> C (p.Gly160Ala) single nucleotide variant Pathogenic rs137852235 GRCh37 Chromosome X, 138630609: 138630609
31 F9 NM_000133.3(F9): c.479G> C (p.Gly160Ala) single nucleotide variant Pathogenic rs137852235 GRCh38 Chromosome X, 139548450: 139548450
32 F9 NM_000133.3(F9): c.496A> T (p.Asn166Tyr) single nucleotide variant Pathogenic rs137852236 GRCh37 Chromosome X, 138630626: 138630626
33 F9 NM_000133.3(F9): c.496A> T (p.Asn166Tyr) single nucleotide variant Pathogenic rs137852236 GRCh38 Chromosome X, 139548467: 139548467
34 F9 F9, TRP194TER undetermined variant Pathogenic
35 F9 NM_000133.3(F9): c.571C> T (p.Arg191Cys) single nucleotide variant Pathogenic rs137852237 GRCh37 Chromosome X, 138633271: 138633271
36 F9 NM_000133.3(F9): c.571C> T (p.Arg191Cys) single nucleotide variant Pathogenic rs137852237 GRCh38 Chromosome X, 139551112: 139551112
37 F9 NM_000133.3(F9): c.572G> A (p.Arg191His) single nucleotide variant Pathogenic rs137852238 GRCh37 Chromosome X, 138633272: 138633272
38 F9 NM_000133.3(F9): c.572G> A (p.Arg191His) single nucleotide variant Pathogenic rs137852238 GRCh38 Chromosome X, 139551113: 139551113
39 F9 F9, IVS7AS, G-A single nucleotide variant Pathogenic
40 F9 NM_000133.3(F9): c.880C> T (p.Arg294Ter) single nucleotide variant Pathogenic rs137852248 GRCh37 Chromosome X, 138643724: 138643724
41 F9 NM_000133.3(F9): c.880C> T (p.Arg294Ter) single nucleotide variant Pathogenic rs137852248 GRCh38 Chromosome X, 139561565: 139561565
42 F9 NM_000133.3(F9): c.655C> T (p.Gln219Ter) single nucleotide variant Pathogenic rs137852239 GRCh37 Chromosome X, 138633355: 138633355
43 F9 NM_000133.3(F9): c.655C> T (p.Gln219Ter) single nucleotide variant Pathogenic rs137852239 GRCh38 Chromosome X, 139551196: 139551196
44 F9 NM_000133.3(F9): c.676C> T (p.Arg226Trp) single nucleotide variant Pathogenic rs137852240 GRCh37 Chromosome X, 138633376: 138633376
45 F9 NM_000133.3(F9): c.676C> T (p.Arg226Trp) single nucleotide variant Pathogenic rs137852240 GRCh38 Chromosome X, 139551217: 139551217
46 F9 NM_000133.3(F9): c.677G> A (p.Arg226Gln) single nucleotide variant Pathogenic rs137852241 GRCh37 Chromosome X, 138633377: 138633377
47 F9 NM_000133.3(F9): c.677G> A (p.Arg226Gln) single nucleotide variant Pathogenic rs137852241 GRCh38 Chromosome X, 139551218: 139551218
48 F9 NM_000133.3(F9): c.541G> T (p.Val181Phe) single nucleotide variant Pathogenic rs387906477 GRCh37 Chromosome X, 138633241: 138633241
49 F9 NM_000133.3(F9): c.541G> T (p.Val181Phe) single nucleotide variant Pathogenic rs387906477 GRCh38 Chromosome X, 139551082: 139551082
50 F9 NM_000133.3(F9): c.682G> T (p.Val228Phe) single nucleotide variant Pathogenic rs137852243 GRCh37 Chromosome X, 138633382: 138633382

Copy number variations for Hemophilia B from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 259590 X 138440560 138473283 Insertion F9 Hemophilia B
Sources

Expression for Hemophilia B

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Search GEO for disease gene expression data for Hemophilia B.
Sources

Pathways for Hemophilia B

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Pathways related to Hemophilia B according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.99 EGF F10 F11 F2 F3 F7
2
Collagen chain trimerization 66
Show member pathways
 12.48 F10 F11 F2 F3 F7 F8
3
Gamma carboxylation, hypusine formation and arylsulfatase activation 66
Show member pathways
 11.7 F10 F2 F7 F9
4
Complement and coagulation cascades 1 37
11.7 F10 F11 F2 F3 F7 F8
5
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 11.43 F10 F11 F2 F3 F7 F8
6
Warfarin Pathway, Pharmacodynamics 61
10.8 F10 F2 F7 F9
Sources

GO Terms for Hemophilia B

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Cellular components related to Hemophilia B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 EGF F11 F2 F3 F9 SERPINC1
2 extracellular space GO:0005615 9.76 EGF F11 F2 F3 F7 F8
3 extracellular region GO:0005576 9.61 EGF F10 F11 F2 F3 F7
4 Golgi lumen GO:0005796 9.56 F10 F2 F7 F9
5 intrinsic component of external side of plasma membrane GO:0031233 9.4 F10 F3
6 serine-type peptidase complex GO:1905286 9.32 F3 F7
7 endoplasmic reticulum lumen GO:0005788 9.1 F10 F2 F7 F8 F9 SERPINC1
8 plasma membrane GO:0005886 10.02 EGF F10 F11 F2 F3 F7

Biological processes related to Hemophilia B according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.91 F10 F11 F2 F7 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.8 F10 F2 F7 F8 F9
3 positive regulation of cell migration GO:0030335 9.78 EGF F10 F3 F7
4 positive regulation of protein kinase B signaling GO:0051897 9.76 EGF F10 F3 F7
5 signal peptide processing GO:0006465 9.67 F10 F2 F7 F9
6 peptidyl-glutamic acid carboxylation GO:0017187 9.62 F10 F2 F7 F9
7 regulation of blood coagulation GO:0030193 9.61 F11 F2 SERPINC1
8 blood coagulation, extrinsic pathway GO:0007598 9.56 F10 F3 F7 F9
9 blood coagulation GO:0007596 9.56 F10 F11 F2 F3 F7 F8
10 acute-phase response GO:0006953 9.55 F2 F8
11 blood coagulation, intrinsic pathway GO:0007597 9.55 F10 F11 F2 F8 F9
12 positive regulation of blood coagulation GO:0030194 9.54 F2 F7
13 positive regulation of positive chemotaxis GO:0050927 9.52 F3 F7
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.49 F3 F7
15 hemostasis GO:0007599 9.23 F10 F11 F2 F3 F7 F8

Molecular functions related to Hemophilia B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.77 F10 F11 F2 F7 F9
2 calcium ion binding GO:0005509 9.65 EGF F10 F2 F7 F9
3 peptidase activity GO:0008233 9.55 F10 F11 F2 F7 F9
4 heparin binding GO:0008201 9.5 F11 F2 SERPINC1
5 serine-type peptidase activity GO:0008236 9.35 F10 F11 F2 F7 F9
6 serine-type endopeptidase activity GO:0004252 9.1 F10 F11 F2 F3 F7 F9
Sources

Sources for Hemophilia B

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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