MCID: FCT005
MIFTS: 42

Factor Xiii Deficiency malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Factor Xiii Deficiency

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Aliases & Descriptions for Factor Xiii Deficiency:

Name: Factor Xiii Deficiency 11 48 25 50 39 13 68
Fibrin Stabilizing Factor Deficiency 48 25
Congenital Factor Xiii Deficiency 48 54
Deficiency, Laki-Lorand Factor 11 25
 
Hereditary Factor Xiii Deficiency Disease 11
Fibrin-Stabilizing Factor Deficiency 54
Factor Xiii Deficiency Disease 11
Deficiency of Factor Xiii 25

Characteristics:

Orphanet epidemiological data:

54
congenital factor xiii deficiency:
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:2211
MeSH39 D005177
NCIt45 C98941
SNOMED-CT62 18604004, 50189006
Orphanet54 ORPHA331
ICD10 via Orphanet31 D68.2

Summaries for Factor Xiii Deficiency

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NIH Rare Diseases:48 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. Last updated: 8/16/2011

MalaCards based summary: Factor Xiii Deficiency, also known as fibrin stabilizing factor deficiency, is related to myocardial infarction and factor xiiib deficiency. An important gene associated with Factor Xiii Deficiency is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways are Dissolution of Fibrin Clot and Collagen biosynthesis and modifying enzymes. Affiliated tissues include testes, breast and liver, and related mouse phenotype homeostasis/metabolism.

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.

Wikipedia:71 Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is... more...

Related Diseases for Factor Xiii Deficiency

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

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction27.2F13A1, F3, F5, F8, SERPINE1, SERPINF2
2factor xiiib deficiency11.2
3factor xiiia deficiency11.2
4split-hand/foot malformation 1 with sensorineural hearing loss10.3SERPINE1, SERPINF2
5penis papillary carcinoma10.2F13A1, F8
6cleft lip10.2F13A1, F5
7monocytic leukemia10.2SERPINE1, SERPINF2
8acute cor pulmonale10.2SERPINE1, SERPINF2
9congenital stenosis of the inferior vena cava10.2F5, SERPINE1
10ameloblastic carcinoma10.2F5, SERPINE1
11unicentric castleman disease10.2F5, SERPINE1
12collagenous colitis10.2F5, SERPINE1
13retinal dystrophy, iris coloboma, and comedogenic acne syndrome10.1F5, SERPINE1
14peripheral focal chorioretinitis10.1F13A1, F8
15venezuelan hemorrhagic fever10.1F8, SERPINE1
16selective iga deficiency disease10.1F5, SERPINE1
17tympanosclerosis10.1F5, F8
18childhood central nervous system germinoma10.0F5, F8
19ariboflavinosis10.0F3, SERPINF2
20cavernous hemangioma of face10.0F3, SERPINF2
21penile disease10.0F8, SERPINF2
22photokeratitis10.0F13A1, F5
23dmd-related dilated cardiomyopathy10.0F3, SERPINF2
24chronic diarrhea due to guanylate cyclase 2c overactivity9.9F3, SERPINF2
25exophthalmic ophthalmoplegia9.9F5, SERPINE1
26lymphatic system cancer9.9F3, SERPINF2
27hepatic fibrosis renal cysts mental retardation9.9F3, F5
28lujo hemorrhagic fever9.9F3, SERPINF2
29classic congenital lipoid adrenal hyperplasia due to star deficency9.9F3, F5
30lateral cystocele9.9F3, SERPINE1
31shwachman-diamond type metaphyseal dysplasia9.9F3, SERPINE1
32transient cerebral ischemia9.9F3, F5
33pneumocystosis9.9F3, SERPINE1
34marek disease9.8F3, F8
35angioedema, hereditary, type iii9.8F3, F5
36von willibrand disease, type 39.8F3, F8
37fiedler's myocarditis9.8F3, SERPINF2
38angular blepharoconjunctivitis9.8F3, F5
39functional colonic disease9.8F5, SERPINE1, SERPINF2
40rheumatoid arthritis9.8
41arthritis9.8
42glomerulonephritis9.8
43purpura9.8
44cerebritis9.8
45chromophobe adenoma9.8F3, SERPINE1
46lingual-facial-buccal dyskinesia9.8F3, F5
47wfs1-related disorders9.8F3, F8
48pseudohermaphroditism9.8F3, F5
49perichondritis of auricle9.8F3, F8
50idiopathic neutropenia9.8F3, F8

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



Diseases related to factor xiii deficiency

Symptoms & Phenotypes for Factor Xiii Deficiency

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MGI Mouse Phenotypes related to Factor Xiii Deficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.4CPB2, F13A1, F13B, F3, F5, F8

Drugs & Therapeutics for Factor Xiii Deficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
FibrinolysinapprovedPhase 3, Phase 2349004-09-5
Synonyms:
Bovine Fibrinolysin
 
Bovine Plasmin
Plasmin
2
BenzocaineapprovedPhase 318921994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
3tannic acidapproved, NutraceuticalPhase 31892
4Protein C115
5Fibrinolytic Agents2317

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1A Study of Factor XIII Concentrate in Subjects With Congenital Factor XIII DeficiencyCompletedNCT00885742Phase 3
2An Open Enrollment Study of Factor XIII Concentrate in Subjects With Congenital Factor XIII DeficiencyCompletedNCT00945906Phase 3
3Safety of Monthly Recombinant Factor XIII Replacement Therapy in Subjects With Congenital Factor XIII Deficiency: An Extension to Trial F13CD-1725CompletedNCT00978380Phase 3
4Evaluation of Recombinant Factor XIII for Prevention of Bleeding in Patients With FXIII Inherited DeficiencyCompletedNCT00713648Phase 3
5Safety and Efficacy of Monthly Replacement Therapy With Recombinant Factor XIII (rFXIII) in Paediatric Subjects With Congenital Factor XIII A-subunit DeficiencyCompletedNCT01253811Phase 3
6Safety of a Single Intravenous Dose of Recombinant Factor XIII in Children With Congenital FXIII A-subunit DeficiencyCompletedNCT01230021Phase 3
7A Study of the Use of Factor XIII Concentrate in Patients With Inherited FXIII DeficiencyCompletedNCT00883090Phase 2
8Safety and Pharmacokinetics of Recombinant Factor XIII in Patients With Congenital Factor Xlll DeficiencyCompletedNCT00056589Phase 1
9Comparison of a Blood Clotting Drug (Recombinant Factor XIII) Produced by Two Different Manufacturers in Healthy Male SubjectsCompletedNCT01082406Phase 1
10Safety and Pharmacokinetics of Recombinant Factor XIII in Healthy VolunteersCompletedNCT01847989Phase 1
11Safety and Pharmacokinetics of Recombinant Factor XIII Administration in Healthy VolunteersCompletedNCT01848002Phase 1
12Factor XIII and Pulmonary Embolism in Neurosurgical PatientsUnknown statusNCT01106937
13Clinical Trial of Factor XIII (FXIII) ConcentrateCompletedNCT00640289
14Evaluation of Clot Stability Induced by Solulin: Evaluation of New Solulin Mutants Lacking Protein C Activation CapacityCompletedNCT02911233
15Wound Healing Abnormalities in Major Abdominal SurgeryRecruitingNCT00735579
16Use of rFXIII in Treatment of Congenital FXIII Deficiency, a Prospective Multi-centre Observational StudyEnrolling by invitationNCT01862367
17A Study of Safety and Effectiveness of NovoThirteen® (rFXIII) During Treatment of Congenital FXIII Deficiency in JapanEnrolling by invitationNCT02670213

Search NIH Clinical Center for Factor Xiii Deficiency


Cochrane evidence based reviews: factor xiii deficiency

Genetic Tests for Factor Xiii Deficiency

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Anatomical Context for Factor Xiii Deficiency

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MalaCards organs/tissues related to Factor Xiii Deficiency:

36
Testes, Breast, Liver, Kidney, Spleen, Eye

Publications for Factor Xiii Deficiency

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Articles related to Factor Xiii Deficiency:

(show top 50)    (show all 235)
idTitleAuthorsYear
1
Factor XIII deficiency enhances thrombin generation due to impaired fibrin polymerization - An effect corrected by Factor XIII replacement. (27902939)
2017
2
Laboratory Diagnosis of Factor XIII Deficiency, Routine Coagulation Tests with Quantitative and Qualitative Methods. (27215067)
2016
3
Long Term Follow up Study on a Large Group of Patients with Congenital Factor XIII Deficiency Treated Prophylactically with Fibrogammin PAr. (27642336)
2016
4
Morbidity and mortality in a large number of Iranian patients with severe congenital factor XIII deficiency. (26692088)
2016
5
Rotational thromboelastometry can detect factor XIII deficiency and bleeding diathesis in patients with liver cirrhosis. (27634287)
2016
6
Recurrent Post Tonsillectomy Secondary Hemorrhage in Patients with Factor XIII Deficiency: A Case Series and Review of Literature. (27843132)
2016
7
Laboratory Diagnosis of Factor XIII Deficiency in Developing Countries: An Iranian Experience. (27346867)
2016
8
Disseminated intravascular coagulation with positive D-dimer: a controversial clinical feature in severe congenital factor XIII deficiency in southeast Iran. (26836269)
2016
9
Acquired coagulation factor XIII deficiency: a case report. (26588447)
2016
10
Diagnosis of factor XIII deficiency. (27077776)
2016
11
Long-term prophylaxis in patients with severe congenital factor XIII deficiency is not complicated by inhibitor formation. (27306330)
2016
12
Molecular Basis of Congenital Factor XIII Deficiency in Iran. (27879471)
2016
13
Blood coagulation factor XIII and factor XIII deficiency. (27344554)
2016
14
Autoimmune acquired factor XIII deficiency due to anti-factor XIII/13 antibodies: A summary of 93 patients. (27542511)
2016
15
Guidelines for laboratory diagnosis of factor XIII deficiency. (26588445)
2016
16
Effects of Factor XIII Deficiency on Thromboelastography. Thromboelastography with Calcium and Streptokinase Addition is more Sensitive than Solubility Tests. (27648200)
2016
17
Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations. (26852661)
2016
18
Original tandem duplication in FXIIIA gene with splicing site modification and four amino acids insertion causes factor XIII deficiency. (27427785)
2016
19
Molecular genetic analysis of ten unrelated Iranian patients with congenital factor XIII deficiency. (28013530)
2016
20
Establishment of a prenatal diagnosis schedule as part of a prophylaxis program of factor XIII deficiency in the southeast of Iran. (26703985)
2016
21
Comparison of 2 Methods of Clot Solubility Testing in Detection of Factor XIII Deficiency. (27522062)
2016
22
Developing the First Recombinant Factor XIII for Congenital Factor XIII Deficiency: Clinical Challenges and Successes. (27556350)
2016
23
An unusual case of factor xiii deficiency. (27728300)
2016
24
Medical and Surgical Management of Postpartum Hemorrhage in a Woman with Factor XIII Deficiency. (27635271)
2016
25
Effect of Social Factors on the Highest Global Incidence of Congenital Factor XIII Deficiency in Southeast of Iran. (26155604)
2015
26
Factor XIII deficiency and head trauma: management and therapy. (26116182)
2015
27
Factor XIII Deficiency in Iran: A Comprehensive Review of the Literature. (25615432)
2015
28
Challenges in implementation of ISTH diagnostic algorithm for diagnosis and classification of factor XIII deficiency in Iran. (26099358)
2015
29
Factor XIII deficiency revealed by spontaneous intramedullary hemorrhage: confirmation of a severe mutation. (25828969)
2015
30
Mild factor XIII deficiency and concurrent hypofibrinogenemia: effect of pregnancy. (26575494)
2015
31
Identification of two novel missense mutations causing severe factor XIII deficiency. (25832324)
2015
32
Pharmacokinetics and safety of plasma-derived factor XIII concentrate (human) in patients with congenital factor XIII deficiency. (25458735)
2015
33
First cases of severe congenital factor XIII deficiency in Southwestern Afghanistan in the vicinity of southeast of Iran. (26226252)
2015
34
The use of recombinant factor XIII in a major bleeding episode of a patient with congenital factor XIII deficiency--the first experience. (25471755)
2015
35
Fibrinogen but not factor XIII deficiency is associated with bleeding after craniotomy. (24871873)
2014
36
Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency. (25004025)
2014
37
Diagnosis and management of severe congenital factor XIII deficiency in the Emergency Department: lessons from a "model" family. (25369590)
2014
38
Factor XIII deficiency management: a review of the literature. (24401950)
2014
39
Efficacy and safety of prophylactic treatment with plasma-derived factor XIII concentrate (human) in patients with congenital factor XIII deficiency. (25377187)
2014
40
Development of anti-factor XIII antibodies in a patient with hereditary factor XIII deficiency receiving therapy for chronic hepatitis C. (25333572)
2014
41
Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations. (24118344)
2014
42
Recurrent episodes of severe bleeding caused by congenital factor XIII deficiency in a dog. (25356716)
2014
43
Ovarian haemorrhage: a rare presentation and diagnostic dilemma in factor XIII deficiency. (24640817)
2014
44
Acquired factor xiii deficiency after desensitization as a potential contributor to postoperative bleeding: more than meets the eye. (25265989)
2014
45
Acquired factor XIII deficiency: still a clinical challenge in the era of novel therapy. (24354481)
2014
46
Factor XIII deficiency in Henoch-SchAPnlein purpura - report on two cases and literature review. (25182395)
2014
47
Factor XIII Assays and associated problems for laboratory diagnosis of factor XIII deficiency: an analysis of International Proficiency testing results. (24497117)
2014
48
Coagulation factor XIII deficiency. Diagnosis, prevalence and management of inheritedA andA acquired forms. (24503678)
2014
49
Association between expression of MMP-2 and MMP-9 genes and pathogenesis of intracranial hemorrhage in severe coagulation factor XIII deficiency. (25544259)
2014
50
A new era of therapy for congenital factor XIII deficiency. (25003489)
2014

Variations for Factor Xiii Deficiency

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Expression for genes affiliated with Factor Xiii Deficiency

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

Pathways for genes affiliated with Factor Xiii Deficiency

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GO Terms for genes affiliated with Factor Xiii Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum-Golgi intermediate compartment membraneGO:00331169.9F5, F8
2ER to Golgi transport vesicleGO:00301349.9F5, F8
3extracellular regionGO:00055768.2F13A1, F13B, F5, F8, SERPINE1, SERPINF2
4platelet alpha granule lumenGO:00310937.8F13A1, F5, F8, SERPINE1, SERPINF2
5extracellular spaceGO:00056157.6CPB2, F3, F5, F8, SERPINE1, SERPINF2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1acute-phase responseGO:000695310.1F8, SERPINF2
2COPII vesicle coatingGO:00482089.7F5, F8
3fibrinolysisGO:00427309.6CPB2, SERPINE1, SERPINF2
4negative regulation of fibrinolysisGO:00519189.6CPB2, SERPINE1, SERPINF2
5negative regulation of plasminogen activationGO:00107579.6CPB2, SERPINE1, SERPINF2
6blood coagulationGO:00075968.0CPB2, F13A1, F13B, F3, F5, F8
7platelet degranulationGO:00025767.8F13A1, F5, F8, SERPINE1, SERPINF2

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.8F5, F8
2protease bindingGO:00020209.5F3, SERPINE1, SERPINF2
3serine-type endopeptidase activityGO:00042528.5F3, F5, F8

Sources for Factor Xiii Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet