MCID: 3HY005
MIFTS: 48

3-Hydroxyacyl-Coa Dehydrogenase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Aliases & Descriptions for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

Name: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 49 11 23 65
Deficiency of 3-Hydroxyacyl-Coa Dehydrogenase 23 24
Schad Deficiency 23 67
Hadh Deficiency 23 67
Had Deficiency 23 67
L-3-Alpha-Hydroxyacyl-Coa Dehydrogenase, Short Chain, Deficiency 23
 
3-Alpha-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 23
3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 23
3-Alpha-Hydroxyacyl-Coa Dehydrogenase Deficiency 67
Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 67
M/schad Deficiency 23
Hadhsc Deficiency 23

Characteristics:

HPO:

61
3-hydroxyacyl-coa dehydrogenase deficiency:
Onset and clinical course: phenotypic variability
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 231530
MedGen34 C1291230
MeSH36 D008659
UMLS65 C1291230

Summaries for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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UniProtKB/Swiss-Prot:67 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency: A metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death.

MalaCards based summary: 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as deficiency of 3-hydroxyacyl-coa dehydrogenase, is related to lchad deficiency and 3-hydroxyacyl-coenzyme a dehydrogenase deficiency, and has symptoms including feeding difficulties in infancy, hypoglycemic encephalopathy and fulminant hepatic failure. An important gene associated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADH (Hydroxyacyl-CoA Dehydrogenase), and among its related pathways are and Beta oxidation of octanoyl-CoA to hexanoyl-CoA. Affiliated tissues include t cells, prostate and breast, and related mouse phenotypes are liver/biliary system and growth/size/body region.

Genetics Home Reference:23 3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that prevents the body from converting certain fats to energy, particularly during prolonged periods without food (fasting).

Description from OMIM:49 231530

Related Diseases for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Graphical network of the top 20 diseases related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:



Diseases related to 3-hydroxyacyl-coa dehydrogenase deficiency

Symptoms for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Symptoms by clinical synopsis from OMIM:

231530

Clinical features from OMIM:

231530

HPO human phenotypes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show all 13)
id Description Frequency HPO Source Accession
1 feeding difficulties in infancy HP:0008872
2 hypoglycemic encephalopathy HP:0006929
3 fulminant hepatic failure HP:0004448
4 dicarboxylic aciduria HP:0003215
5 myoglobinuria HP:0002913
6 hepatic necrosis HP:0002605
7 hypoglycemic seizures HP:0002173
8 hypoketotic hypoglycemia HP:0001985
9 dilated cardiomyopathy HP:0001644
10 hypertrophic cardiomyopathy HP:0001639
11 growth delay HP:0001510
12 hepatic steatosis HP:0001397
13 muscular hypotonia HP:0001252

Drugs & Therapeutics for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Drugs for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Heparinapproved, investigational7199005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
2
Vitamin Eapproved, nutraceutical37159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
3
Glycerolexperimental19156-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
4Pharmaceutical Solutions7004
5Protective Agents5651
6Insulin, Globin Zinc4278
7calcium heparin719
8insulin4278
9Trace Elements3900
10Vitamins3857
11Tocotrienols372
12Antioxidants2442
13Micronutrients3901
14Tocopherols376
15pyruvateNutraceutical30
16TocopherolNutraceutical376
17TocotrienolNutraceutical372

Interventional clinical trials:

idNameStatusNCT IDPhase
1High Protein Diet in Patients With Long-chain Fatty Acid Oxidation DisordersCompletedNCT01494051Phase 1, Phase 2
2Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
3Fatty Acid Oxidation Defects and Insulin SensitivityRecruitingNCT02517307
4Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage DiseaseAvailableNCT01461304
5Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated NeuropathyTerminatedNCT00840112

Search NIH Clinical Center for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Genetic Tests for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Anatomical Context for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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MalaCards organs/tissues related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

33
T cells, Prostate, Breast, Lung, Skin, Neutrophil, Monocytes

Animal Models for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3ACADVL, GCK, HADHA, MTTP
2MP:00053787.2ACADVL, GCK, GLUD1, HADH, HADHA, MTTP
3MP:00053766.9ACADVL, GCK, GLUD1, HADH, HADHA, MTTP

Publications for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Articles related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
SLC30A8 mutations in type 2 diabetes. (25287711)
2015
2
OCT4 mediates FSH-induced epithelial-mesenchymal transition and invasion through the ERK1/2 signaling pathway in epithelial ovarian cancer. (25911324)
2015
3
Capillary morphogenesis gene 2 inhibits growth of breast cancer cells and is inversely correlated with the disease progression and prognosis. (24667935)
2014
4
Aortic saddle embolism and paraplegia due to a large left ventricular thrombus. (24101827)
2013
5
Stattic V, a STAT3 inhibitor, affects human spermatozoa through regulation of mitochondrial activity. (22911368)
2013
6
Mucosa-associated bacteria in two middle-aged women diagnosed with collagenous colitis. (22529692)
2012
7
Rituximab Treatment for PR3-ANCA-Positive Membranoproliferative Glomerulonephritis Associated with Adult-Onset Periodic Fever Syndrome. (23197963)
2012
8
Allergic sensitization and symptoms, body mass index, and respiratory function in children with type 1 diabetes mellitus. (22289736)
2012
9
Urinary neutrophil gelatinase-associated lipocalin as a novel biomarker for disease activity in lupus nephritis. (20144927)
2010
10
Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. (20082890)
2010
11
Dendritic cells express hematopoietic prostaglandin D synthase and function as a source of prostaglandin D2 in the skin. (20008150)
2010
12
The disturbance of gaze in progressive supranuclear palsy: implications for pathogenesis. (21188269)
2010
13
A TPM3 mutation causing cap myopathy. (19553118)
2009
14
A case of non-hallopeau-siemens recessive dystrophic epidermolysis bullosa. (20548856)
2009
15
BRCA1 interacts with Smad3 and regulates Smad3-mediated TGF-beta signaling during oxidative stress responses. (19768112)
2009
16
Structural determinants of Kvbeta1.3-induced channel inactivation: a hairpin modulated by PIP2. (18987637)
2008
17
In vitro generation of cytotoxic and regulatory T cells by fusions of human dendritic cells and hepatocellular carcinoma cells. (18793383)
2008
18
Pseudoxanthomatous mastocytosis. (18173602)
2008
19
Ring chromosome 7 in an Indian woman. (18300171)
2008
20
Epstein-Barr virus lytic infection induces retinoic acid-responsive genes through induction of a retinol-metabolizing enzyme, DHRS9. (17244623)
2007
21
Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome. (17164262)
2007
22
Upregulation of Wilms' tumour gene 1 (WT1) in uterine sarcomas. (17531467)
2007
23
Role of glutamate transporters in excitatory synapses in cerebellar Purkinje cells]. (17663137)
2007
24
G-protein beta3 subunit gene variant is unlikely to have a significant influence on serum uric acid level in Japanese workers. (16707857)
2006
25
Piecing together the HIF-1 puzzle: the role of the CTGF as a molecular mechanism of HIF-1 regulation. (17172812)
2006
26
Toll-like receptor 4 protects against lethal Leptospira interrogans serovar icterohaemorrhagiae infection and contributes to in vivo control of leptospiral burden. (16428731)
2006
27
A human splicing factor, SKIP, associates with P-TEFb and enhances transcription elongation by HIV-1 Tat. (15905409)
2005
28
LY294002 and LY303511 sensitize tumor cells to drug-induced apoptosis via intracellular hydrogen peroxide production independent of the phosphoinositide 3-kinase-Akt pathway. (16024628)
2005
29
Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. (14722070)
2004
30
A systematic review of the diagnostic accuracy of natriuretic peptides for heart failure. (15477431)
2004
31
Prostate biopsies--a retrospective review from the University Malaya Medical Center. (15190652)
2003
32
Alpha 1-antitrypsin deficiency associated iatrogenic coronary artery dissection during intracoronary ultrasound examination. (14689113)
2003
33
Plasma hyaluronidase (Hyal-1) promotes tumor cell cycling. (11163112)
2001
34
Pancreatic cystic lymphangioma in an adult. (11138961)
2001
35
Increased nuclear factor kappa B activation in critically ill patients who die. (10809280)
2000
36
Large isoform of hepatitis delta antigen activates serum response factor-associated transcription. (10961986)
2000
37
Enhanced upregulation of the Fc gamma receptor IIIa (CD16a) during in vitro differentiation of ApoE4/4 monocytes. (9743231)
1998
38
Identification of two distinct deleted regions on chromosome 13 in prostate cancer. (9484837)
1998
39
Determination of mutation frequency at loci of glycophorin A and T-cell receptors: informativeness for biological dosimetry of acute and prolonged irradiation]. (9633618)
1998
40
Traumatic aortic and diaphragmatic rupture in a patient with dextrocardia and situs inversus: case report. (9715204)
1998
41
INCENP centromere and spindle targeting: identification of essential conserved motifs and involvement of heterochromatin protein HP1. (9864353)
1998
42
3-Chlorotyrosine, a specific marker of myeloperoxidase-catalyzed oxidation, is markedly elevated in low density lipoprotein isolated from human atherosclerotic intima. (9151778)
1997
43
Hantavirus pulmonary syndrome in Germany. (8569402)
1996
44
Secondary retinoschisis in a dog. (7490341)
1995
45
A common cold virus, rhinovirus 16, potentiates airway inflammation after segmental antigen bronchoprovocation in allergic subjects. (7989575)
1994
46
Altered chondrocytic oxidative metabolism during the restoration of depleted intercellular matrix. (2372415)
1990
47
Glomerular binding sites for peanut agglutinin in acute poststreptococcal glomerulonephritis. (3542320)
1986
48
A palliative percutaneous drainage procedure for proximal bile duct carcinoma. (6203054)
1984
49
Fibrocartilaginous embolism and ischemic myelopathy in a four month old German shepherd dog. (6667434)
1983
50
Serum levels of 2 -macroglobulin and IgG and cryofibrinogenemia in pregnancy. (4118750)
1973

Variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

67
id Symbol AA change Variation ID SNP ID
1HADHp.Ala40ThrVAR_024079
2HADHp.Asp57GluVAR_024080

Clinvar genetic disease variations for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HADHNM_001184705.2(HADH): c.676T> C (p.Tyr226His)single nucleotide variantLikely pathogenicrs146036912GRCh37Chr 4, 108948883: 108948883
2HADHNM_005327.4(HADH): c.118G> A (p.Ala40Thr)single nucleotide variantPathogenicrs137853101GRCh37Chr 4, 108911206: 108911206
3HADHNM_005327.4(HADH): c.171C> A (p.Asp57Glu)single nucleotide variantPathogenicrs137853102GRCh37Chr 4, 108930953: 108930953

Expression for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Search GEO for disease gene expression data for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency.

Pathways for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Pathways related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7
2
Show member pathways
9.7HADH, HADHA
39.7HADH, HADHA
4
Show member pathways
9.7HADH, HADHA
5
Show member pathways
9.2HADH, HADHA, HSD17B10
6
Show member pathways
9.2HADH, HADHA, HSD17B10
7
Show member pathways
9.2HADH, HADHA, HSD17B10
8
Show member pathways
9.2GCK, HADH, HADHA
9
Show member pathways
9.2GCK, HADH, HADHA
10
Show member pathways
9.1ACADVL, HADH, HADHA
11
Show member pathways
9.1ACADVL, HADH, HADHA
12
Show member pathways
9.0GCK, GLUD1, HADHA
138.5ACADVL, GCK, HADH, HADHA
14
Show member pathways
8.5ACADVL, GCK, HADH, HADHA
15
Show member pathways
8.5ACADVL, GCK, HADH, HADHA
16
Show member pathways
6.7ACADVL, GCK, GLUD1, HADH, HADHA, HSD17B10

GO Terms for genes affiliated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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Biological processes related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to insulinGO:00328689.9HADH, HADHA
2cellular lipid metabolic processGO:00442559.4ACADVL, HADHA

Molecular functions related to 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
13-hydroxyacyl-CoA dehydrogenase activityGO:000385710.2HADH, HADHA
2fatty-acyl-CoA bindingGO:00000629.9ACADVL, HADHA
3oxidoreductase activityGO:00164919.5GLUD1, HSD17B10

Sources for 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet