Factor Xiii Deficiency

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Factor Xiii Deficiency

MalaCards integrated aliases for Factor Xiii Deficiency:

Name: Factor Xiii Deficiency 12 75 53 25 37 55 44 15 72
Hereditary Factor Xiii Deficiency Disease 12 6
Fibrin Stabilizing Factor Deficiency 53 25
Congenital Factor Xiii Deficiency 53 59
Deficiency, Laki-Lorand Factor 12 25
Fibrin-Stabilizing Factor Deficiency 59
Factor Xiii Deficiency Disease 12
Deficiency of Factor Xiii 25
Deficiency, Factor Xiii 40


Orphanet epidemiological data:

congenital factor xiii deficiency
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;


External Ids:

Disease Ontology 12 DOID:2211
KEGG 37 H00945
MeSH 44 D005177
NCIt 50 C98941
SNOMED-CT 68 50189006
ICD10 via Orphanet 34 D68.2
UMLS via Orphanet 73 C0015530
Orphanet 59 ORPHA331
UMLS 72 C0015530

Summaries for Factor Xiii Deficiency

Genetics Home Reference : 25 Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime. Signs and symptoms of inherited factor XIII deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. If the condition is not treated, affected individuals may have episodes of excessive and prolonged bleeding that can be life-threatening. Abnormal bleeding can occur after surgery or minor trauma. The condition can also cause spontaneous bleeding into the joints or muscles, leading to pain and disability. Women with inherited factor XIII deficiency tend to have heavy or prolonged menstrual bleeding (menorrhagia) and may experience recurrent pregnancy losses (miscarriages). Other signs and symptoms of inherited factor XIII deficiency include nosebleeds, bleeding of the gums, easy bruising, problems with wound healing, bleeding after surgery, and abnormal scar formation. Inherited factor XIII deficiency also increases the risk of spontaneous bleeding inside the skull (intracranial hemorrhage), which is the leading cause of death in people with this condition. Acquired factor XIII deficiency becomes apparent later in life. People with the acquired form are less likely to have severe or life-threatening episodes of abnormal bleeding than those with the inherited form.

MalaCards based summary : Factor Xiii Deficiency, also known as hereditary factor xiii deficiency disease, is related to compartment syndrome and squamous cell papilloma, and has symptoms including prolonged umbilical cord bleeding An important gene associated with Factor Xiii Deficiency is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, liver and brain, and related phenotypes are abnormal umbilical stump bleeding and reduced factor xiii activity

Disease Ontology : 12 An inherited blood coagulation disease that is characterized by easy bleeding, has symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has material basis in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor.

NIH Rare Diseases : 53 Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.

KEGG : 37
Factor XIII deficiency is a rare autosomal recessive disorder characterized by defective cross-linking of fibrin and poor resistance to fibrinolysis. The severity of the bleeding tendency varies from benign symptoms like excessive bruising to life threatening bleeding emergencies such as intracranial hemorrhages. In plasma, FXIII circulates as a pro-transglutaminase composed of two catalytic A subunits and two non-catalytic B subunits. Symptoms that are almost pathognomonic for A subunit deficiency are umbilical bleeding in the neonatal period and repeated fetal wastage in pregnant females.

Wikipedia : 75 Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is... more...

Related Diseases for Factor Xiii Deficiency

Diseases related to Factor Xiii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 203)
# Related Disease Score Top Affiliating Genes
1 compartment syndrome 30.0 F8 F2
2 squamous cell papilloma 29.8 F3 F2
3 liver cirrhosis 29.5 SERPINF2 F3 F2
4 hemophilia 29.5 F8 F3 F2
5 acute myocardial infarction 29.5 SERPINF2 SERPINE1 F3
6 placental abruption 29.4 F5 F2
7 acquired hemophilia 28.9 F8 F5 F3
8 thrombasthenia 28.8 F5 F3 F2
9 intracranial thrombosis 28.8 F8 F5 F3
10 von willebrand's disease 28.6 F8 F5 F3 F2
11 blood coagulation disease 28.4 F8 F5 F3 F2
12 vascular disease 28.2 SERPINE1 F5 F3 F2
13 afibrinogenemia 28.1 F8 F5 F3 F2
14 disseminated intravascular coagulation 28.1 SERPINF2 SERPINE1 F5 F3 F2
15 thrombophilia due to thrombin defect 27.4 SERPINE1 F8 F5 F3 F2 F13A1
16 thrombosis 27.1 SERPINE1 F8 F5 F3 F2 F13A1
17 hemorrhagic disease 26.8 SERPINF2 SERPINE1 F8 F5 F3 F2
18 factor xiii, a subunit, deficiency of 11.9
19 factor xiii, b subunit, deficiency of 11.9
20 plasminogen activator inhibitor-1 deficiency 10.4 SERPINF2 SERPINE1
21 chronic thromboembolic pulmonary hypertension 10.3 F2 CPB2
22 acute cor pulmonale 10.3 SERPINF2 SERPINE1
23 acute pulmonary heart disease 10.3 SERPINF2 SERPINE1
24 intracranial embolism 10.3 SERPINF2 F2
25 alpha-2-plasmin inhibitor deficiency 10.3 SERPINF2 F2
26 indeterminate leprosy 10.3 F8 F13A1
27 autosomal recessive disease 10.3
28 subendocardial myocardial infarction 10.2 SERPINE1 F2
29 osteonecrosis 10.2 SERPINE1 F2
30 rare hemorrhagic disorder 10.2
31 brachydactyly, type d 10.2 F8 F2
32 buerger disease 10.2 SERPINE1 F2
33 cardiac tamponade 10.2 F8 F2
34 acute leukemia 10.2
35 purpura 10.2
36 nodular nonsuppurative panniculitis 10.1 SERPINF2 F8
37 carotid artery thrombosis 10.1 SERPINE1 F3
38 dysbaric osteonecrosis 10.1 SERPINE1 F3
39 cerebral falx meningioma 10.1 F3 F2
40 prothrombin deficiency 10.1 F3 F2
41 leech infestation 10.1 F3 F2
42 qualitative platelet defect 10.1 F3 F2
43 rare surgical neurologic disease 10.1
44 femoral neuropathy 10.1 F3 F2
45 lemierre's syndrome 10.1 SERPINE1 F3
46 hantavirus pulmonary syndrome 10.1 F3 F2
47 anterior cranial fossa meningioma 10.1 F3 F2
48 splenic disease 10.1 F3 F2
49 venous insufficiency 10.1 SERPINE1 F2
50 coronary thrombosis 10.1 SERPINE1 F3

Graphical network of the top 20 diseases related to Factor Xiii Deficiency:

Diseases related to Factor Xiii Deficiency

Symptoms & Phenotypes for Factor Xiii Deficiency

Human phenotypes related to Factor Xiii Deficiency:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal umbilical stump bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0011884
2 reduced factor xiii activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0008357
3 umbilical cord hematoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0030657
4 spontaneous hematomas 59 32 frequent (33%) Frequent (79-30%) HP:0007420
5 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
6 cerebral hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0001342
7 joint hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0005261
8 intramuscular hematoma 59 32 frequent (33%) Frequent (79-30%) HP:0012233
9 oral cavity bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0030140
10 gingival bleeding 59 32 occasional (7.5%) Occasional (29-5%) HP:0000225
11 epistaxis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000421
12 menorrhagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000132
13 prolonged bleeding after dental extraction 59 32 occasional (7.5%) Occasional (29-5%) HP:0006298
14 prolonged bleeding after surgery 59 32 occasional (7.5%) Occasional (29-5%) HP:0004846
15 poor wound healing 59 32 occasional (7.5%) Occasional (29-5%) HP:0001058
16 post-partum hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0011891
17 recurrent spontaneous abortion 59 32 occasional (7.5%) Occasional (29-5%) HP:0200067
18 prolonged bleeding following circumcision 59 32 occasional (7.5%) Occasional (29-5%) HP:0030137
19 persistent bleeding after trauma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001934
20 bleeding with minor or no trauma 59 32 occasional (7.5%) Occasional (29-5%) HP:0011889
21 ecchymosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0031364
22 delayed onset bleeding 59 32 occasional (7.5%) Occasional (29-5%) HP:0040232
23 inflammation of the large intestine 59 32 very rare (1%) Very rare (<4-1%) HP:0002037
24 hepatic failure 59 32 very rare (1%) Very rare (<4-1%) HP:0001399
25 myeloid leukemia 59 32 very rare (1%) Very rare (<4-1%) HP:0012324
26 subcutaneous hemorrhage 59 Frequent (79-30%)


  • prolonged umbilical cord bleeding

MGI Mouse Phenotypes related to Factor Xiii Deficiency:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 CPB2 F13A1 F13B F2 F3 F5
2 respiratory system MP:0005388 9.02 CPB2 F13A1 F2 F3 SERPINE1

Drugs & Therapeutics for Factor Xiii Deficiency

Drugs for Factor Xiii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
tannic acid Approved Phase 3 1401-55-4
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
Fibrinolysin Investigational Phase 3 9004-09-5
Thrombin Approved, Investigational
Protein C Approved
6 Thromboplastin
7 Antithrombin III
8 alpha-2-Antiplasmin
9 Antithrombins
10 Antifibrinolytic Agents
11 Pigment epithelium-derived factor
12 Factor VIII
13 Plasminogen
14 Fibrinolytic Agents

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Prospective, Multicenter, Open-label, Phase 3b Study of Human Plasma-Derived Factor XIII Concentrate in Subjects With Congenital Factor XIII Deficiency Completed NCT00885742 Phase 3
2 A Prospective, Multicenter, Open Enrollment Study of Human Plasma-Derived Factor XIII Concentrate in Subjects With Congenital Factor XIII Deficiency Completed NCT00945906 Phase 3
3 A Multi-Centre, Open-Label, Single-Arm and Multiple Dosing Trial on Efficacy and Safety of Monthly Replacement Therapy With Recombinant Factor XIII (rFXIII) in Subjects With Congenital Factor XIII Deficiency Completed NCT00713648 Phase 3 catridecacog
4 A Multi-Centre, Open-Label, Single-Arm, and Multiple Dosing Trial on Safety of Monthly Replacement Therapy With Recombinant Factor XIII (rFXIII) in Subjects With Congenital Factor XIII Deficiency Completed NCT00978380 Phase 3 catridecacog
5 A 12 Week, Multicenter, Pharmacokinetic and Safety Study of Human Plasma-Derived Factor XIII Concentrate in Subjects With Congenital Factor XIII Deficiency Completed NCT00883090 Phase 2
6 A Phase 1 Escalating Dose Study of the Safety and Pharmacokinetics of Recombinant Factor XIII in Patients With Congenital Factor XIII Deficiency Completed NCT00056589 Phase 1 catridecacog
7 Risk Factors for Perioperative Pulmonary Embolism in Neurosurgical Patients in Respect of Factor XIII Activity Unknown status NCT01106937
8 Major Burns Coagulation and the Role of Factor XIII: A Descriptive Study Unknown status NCT03188913
9 Clinical Research Study of Factor XIII Concentrate From Human Plasma Fibrogammin P in Patients With Factor XIII Deficiency Completed NCT00640289 Fibrogammin P
10 Incidence of Wound-healing-abnormalities in Major Abdominal Surgery - Association With Factors of Coagulation Completed NCT00735579
11 Factor XIII and Other Biomarkers in ST Segment Elevation Myocardial Infarction Recruiting NCT03523624
12 Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Children Attending Assiut University Children Hospital ( a One Year Study) Not yet recruiting NCT03273998

Search NIH Clinical Center for Factor Xiii Deficiency

Cochrane evidence based reviews: factor xiii deficiency

Genetic Tests for Factor Xiii Deficiency

Anatomical Context for Factor Xiii Deficiency

MalaCards organs/tissues related to Factor Xiii Deficiency:

Myeloid, Liver, Brain, Testes, Kidney, Eye, Whole Blood

Publications for Factor Xiii Deficiency

Articles related to Factor Xiii Deficiency:

(show top 50) (show all 459)
# Title Authors PMID Year
Congenital factor XIII deficiency: a commentary on 'Homozygous intronic mutation leading to inefficient transcription combined with a novel frame-shift mutation in F13A1 gene causes FXIII deficiency'. 38 71
21633364 2011
Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation. 38 71
11380452 2001
Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. 38 71
11313256 2001
Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency. 38 71
11167856 2001
Molecular mechanisms of type II factor XIII deficiency: novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system. 38 71
9531593 1998
Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain. 38 71
8639893 1996
Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast. 38 71
7727776 1995
Genetic heterogeneity of factor XIII deficiency: first description of unstable A subunits. 38 71
7236530 1981
Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency. 71
21512576 2011
The Arg703Trp missense mutation in F13A1 is a de novo event. 71
19438481 2009
Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion. 71
12100162 2002
Identification and characterization of two missense mutations causing factor XIIIA deficiency. 71
10027709 1999
A novel insertion mutation (1286insC) in exon 9 of the factor XIII-A subunit gene. 71
9712293 1998
Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. 71
8547636 1996
Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. 71
8025280 1994
Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. 71
7918041 1993
Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII. 71
8324218 1993
Identification of a point mutation in factor XIII A subunit deficiency. 71
1353995 1992
Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III. 71
1644910 1992
A familial factor XIII subunit B deficiency. 71
2334637 1990
Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function. 9 38
20179087 2010
Clinical audit of inherited bleeding disorders in a developing country. 9 38
20090222 2010
Menorrhagia and reproductive health in rare bleeding disorders: a study from the Indian subcontinent. 9 38
18803553 2009
Cerebral thrombosis associated with heterozygous factor V Leiden mutation and high lipoprotein(a) level in a girl with factor XIII deficiency. 9 38
17473580 2007
Clinical and prognostic role of plasma coagulation factor XIII activity for bleeding disorders and 6-year survival in patients with chronic liver disease. 9 38
16448455 2006
[Molecular mechanisms of two novel mutations of factor XIII gene resulting in hereditary coagulation deficiency]. 9 38
14720426 2003
Transjugular liver biopsy is safe and diagnostic for patients with congenital bleeding disorders and hepatitis C infection. 9 38
14511303 2003
Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients. 9 38
12801297 2003
Rare inherited coagulation disorders in India. 9 38
9283899 1996
Penile prosthesis implant for primary erectile dysfunction in patient with Klippel-Trenaunay syndrome complicated by consumptive coagulopathy: A case report. 38
31393387 2019
Congenital factor XIII deficiency: comprehensive overview of the FranceCoag cohort. 38
31414482 2019
Benefits of thromboelastometry for monitoring replacement therapy in patients with severe inherited factor XIII deficiency: 3 illustrative cases. 38
31361371 2019
Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement. 38
31340840 2019
Factor XIII mutation spectrum in Iranian patients with hereditary factor XIII deficiency: Detection of 3 novel mutations. 38
30578706 2019
Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency. 38
30935919 2019
Massive recurrent post-tonsillectomy bleedings revealing a transient factor XIII deficiency in a 10-year-old boy. A case report. 38
31388547 2019
Valproic Acid-Induced Coagulopathy. 38
31201069 2019
Concurrent hematoma and venous thrombosis in a patient with autoimmune acquired factor XIII deficiency. 38
31132215 2019
Factor XIII Deficiency in Western Afghanistan due to a Novel F13A Gene Mutation. 38
31136071 2019
Acute kidney injury is associated with low factor XIII in decompensated cirrhosis. 38
30967339 2019
Use of Catridecacog in a patient with severe Factor XIII deficiency undergoing surgery. 38
30915205 2019
Recurrent Hematomas following a Revision Total Hip Arthroplasty in Acquired Coagulation Factor XIII Deficiency. 38
31396426 2019
Acquired factor XIII deficiency: A review. 38
30446212 2018
State of the art in factor XIII laboratory assessment. 38
30087086 2018
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage. 38
30404926 2018
Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent. 38
30702381 2018
Rotational Thromboelastometry for Assessing Bleeding Complications and Factor XIII Deficiency in Cardiac Surgery Patients. 38
30198311 2018
Pathogenicity analysis of variations and prenatal diagnosis in a hereditary coagulation factor XIII deficiency family. 38
29307277 2018
Immunotolerance approach to refractory CNS bleeding in a patient with congenital factor XIII deficiency and acquired alloantibody. 38
29790627 2018
Recombinant factor XIII A-subunit in a patient with factor XIII deficiency and recurrent pregnancy loss. 38
29665207 2018

Variations for Factor Xiii Deficiency

ClinVar genetic disease variations for Factor Xiii Deficiency:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 F13A1 NM_000129.3(F13A1): c.563G> T (p.Trp188Leu) single nucleotide variant Pathogenic 6:6266799-6266799 6:6266566-6266566

Expression for Factor Xiii Deficiency

Search GEO for disease gene expression data for Factor Xiii Deficiency.

Pathways for Factor Xiii Deficiency

Pathways related to Factor Xiii Deficiency according to KEGG:

# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

GO Terms for Factor Xiii Deficiency

Cellular components related to Factor Xiii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 SERPINF2 SERPINE1 F8 F5 F3 F2
2 extracellular region GO:0005576 9.61 SERPINF2 SERPINE1 F8 F5 F3 F2
3 endoplasmic reticulum lumen GO:0005788 9.58 F8 F5 F2
4 collagen-containing extracellular matrix GO:0062023 9.56 SERPINF2 SERPINE1 F3 F13A1
5 blood microparticle GO:0072562 9.5 SERPINF2 F2 F13A1
6 COPII-coated ER to Golgi transport vesicle GO:0030134 9.37 F8 F5
7 platelet alpha granule lumen GO:0031093 9.02 SERPINF2 SERPINE1 F8 F5 F13A1

Biological processes related to Factor Xiii Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.72 SERPINF2 SERPINE1 F8 F5 F13A1
2 ER to Golgi vesicle-mediated transport GO:0006888 9.69 F8 F5 F2
3 acute-phase response GO:0006953 9.58 SERPINF2 F8 F2
4 fibrinolysis GO:0042730 9.56 SERPINF2 SERPINE1 F2 CPB2
5 negative regulation of plasminogen activation GO:0010757 9.54 SERPINF2 SERPINE1 CPB2
6 blood coagulation GO:0007596 9.5 F8 F5 F3 F2 F13B F13A1
7 positive regulation of collagen biosynthetic process GO:0032967 9.49 SERPINF2 F2
8 blood coagulation, intrinsic pathway GO:0007597 9.48 F8 F2
9 positive regulation of blood coagulation GO:0030194 9.46 SERPINE1 F2
10 negative regulation of fibrinolysis GO:0051918 9.46 SERPINF2 SERPINE1 F2 CPB2
11 hemostasis GO:0007599 9.17 F8 F5 F3 F2 F13B F13A1
12 blood coagulation, fibrin clot formation GO:0072378 9.13 F13A1

Molecular functions related to Factor Xiii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 F8 F5
2 protease binding GO:0002020 8.8 SERPINF2 SERPINE1 F3

Sources for Factor Xiii Deficiency

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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