MCID: MDM001
MIFTS: 29

Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Categories: Rare diseases

Aliases & Classifications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

MalaCards integrated aliases for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

Name: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 24 53 29 6 40 73
Mcad Deficiency 24 53
Acyl-Coa Dehydrogenase Medium Chain Deficiency of 53
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 53
Medium Chain Acyl Coa Dehydrogenase Deficiency 53
Medium Chain Acyl Dehydrogenase Deficiency 73
Acadm Deficiency 53
Mcadh Deficiency 53
Mcadd 53

Classifications:



External Ids:

Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

NIH Rare Diseases : 53 Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inheritedmetabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with MCADD do not have enough of an enzyme needed to metabolize a group of fats called medium-chain fatty acids. Signs and symptoms usually begin by early childhood and may include vomiting, lack of energy, and low blood sugar (hypoglycemia). Symptoms can be triggered by periods of fasting or by illnesses. MCADD is caused by mutations in the ACADM gene and inheritance is autosomal recessive. Treatment includes strict avoidance of fasting and avoidance of medium chain triglycerides in the diet. If not treated, people with MCADD are at risk of serious complications including sudden death.

MalaCards based summary : Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as mcad deficiency, is related to acyl-coa dehydrogenase, medium-chain, deficiency of and lipoid congenital adrenal hyperplasia, and has symptoms including lethargy, seizures and vomiting. An important gene associated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADM (Acyl-CoA Dehydrogenase Medium Chain). The drugs Glycerol and 4-phenylbutyric acid have been mentioned in the context of this disorder. Affiliated tissues include liver.

Wikipedia : 76 Medium-chain acyl-CoA dehydrogenase deficiency, often known as MCAD deficiency or MCADD, is a disorder... more...

GeneReviews: NBK1424

Related Diseases for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, medium-chain, deficiency of 11.9
2 lipoid congenital adrenal hyperplasia 10.2
3 alpha-methylacetoacetic aciduria 10.2
4 cystic fibrosis 10.2
5 isovaleric acidemia 10.2
6 sudden infant death syndrome 10.2
7 fatty liver disease 10.2
8 encephalopathy 10.2
9 hydrocephalus, nonsyndromic, autosomal recessive 2 9.2 ACADM DLSTP1

Graphical network of the top 20 diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:



Diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Symptoms & Phenotypes for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

UMLS symptoms related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:


lethargy, seizures, vomiting

Drugs & Therapeutics for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Drugs for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 1,Not Applicable 56-81-5 753
2 4-phenylbutyric acid Phase 1
3 Protective Agents Phase 1,Not Applicable
4
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
5 calcium heparin Not Applicable
6 insulin Not Applicable
7 Fibrinolytic Agents Not Applicable
8 Soybean oil, phospholipid emulsion Not Applicable
9 Parenteral Nutrition Solutions Not Applicable
10 Hypoglycemic Agents Not Applicable
11 Pharmaceutical Solutions Not Applicable
12 Anticoagulants Not Applicable
13 Fat Emulsions, Intravenous Not Applicable
14 Insulin, Globin Zinc Not Applicable
15 Calcium, Dietary Not Applicable
16 Soy Bean Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
2 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

Search NIH Clinical Center for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic Tests for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic tests related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 29 ACADM

Anatomical Context for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

MalaCards organs/tissues related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

41
Liver

Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Articles related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(show all 46)
# Title Authors Year
1
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month. ( 28753542 )
2017
2
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child. ( 27903579 )
2016
3
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. ( 27477829 )
2016
4
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. ( 26404458 )
2015
5
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 26215884 )
2015
6
Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support. ( 24403369 )
2014
7
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. ( 25503862 )
2014
8
Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 24799540 )
2014
9
Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation. ( 23426616 )
2013
10
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 21824573 )
2011
11
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. ( 20580581 )
2010
12
Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome. ( 18608229 )
2009
13
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. ( 18534147 )
2008
14
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. ( 18256406 )
2008
15
Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate. ( 17960024 )
2007
16
Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones. ( 11229423 )
2001
17
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. ( 11346377 )
2001
18
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD). ( 11392180 )
2001
19
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. ( 10755375 )
2000
20
Pitfalls in the use of 2-octynoic acid as an in vivo model of medium-chain acyl-coenzyme A dehydrogenase deficiency: ketone turnover and metabolite studies in the rat. ( 10381140 )
1999
21
High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. ( 9667375 )
1998
22
Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 9234867 )
1997
23
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. ( 7815228 )
1995
24
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. ( 8017963 )
1994
25
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia. ( 8134205 )
1994
26
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. ( 8120710 )
1994
27
Analysis of polymerase chain reaction-product by capillary electrophoresis with laser-induced fluorescence detection and its application to the diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 7981832 )
1994
28
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. ( 8215568 )
1993
29
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency ( 20301597 )
1993
30
Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 8419594 )
1993
31
Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. ( 8496748 )
1993
32
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 8463904 )
1993
33
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. ( 8432018 )
1993
34
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. ( 1456259 )
1992
35
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. ( 1447668 )
1992
36
Medium chain acyl-coenzyme A dehydrogenase deficiency. ( 1436730 )
1992
37
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 1288265 )
1992
38
Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS. ( 1635678 )
1992
39
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. ( 2046713 )
1991
40
Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples. ( 2391601 )
1990
41
Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine- 304 to glutamate substitution in the mature protein is the single prevalent mutation. ( 2394825 )
1990
42
Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: effect of metabolic state and L-carnitine therapy. ( 2795349 )
1989
43
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3575262 )
1987
44
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3822638 )
1987
45
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3786030 )
1986
46
Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients. ( 3840178 )
1985

Variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

ClinVar genetic disease variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

6
(show top 50) (show all 307)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
2 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh38 Chromosome 1, 75761161: 75761161
3 ACADM NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs786204522 GRCh37 Chromosome 1, 76226860: 76226872
4 ACADM NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs786204522 GRCh38 Chromosome 1, 75761175: 75761187
5 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434274 GRCh37 Chromosome 1, 76215194: 76215194
6 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434274 GRCh38 Chromosome 1, 75749509: 75749509
7 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh37 Chromosome 1, 76226985: 76226985
8 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh38 Chromosome 1, 75761300: 75761300
9 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh37 Chromosome 1, 76215125: 76215125
10 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh38 Chromosome 1, 75749440: 75749440
11 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh37 Chromosome 1, 76200535: 76200535
12 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh38 Chromosome 1, 75734850: 75734850
13 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh37 Chromosome 1, 76226963: 76226966
14 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh38 Chromosome 1, 75761278: 75761281
15 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh38 Chromosome 1, 75733584: 75733589
16 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh37 Chromosome 1, 76199269: 76199274
17 ACADM NM_000016.5(ACADM): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434278 GRCh37 Chromosome 1, 76205779: 76205779
18 ACADM NM_000016.5(ACADM): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434278 GRCh38 Chromosome 1, 75740094: 75740094
19 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 GRCh37 Chromosome 1, 76205773: 76205773
20 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 GRCh38 Chromosome 1, 75740088: 75740088
21 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 GRCh37 Chromosome 1, 76215237: 76215237
22 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 GRCh38 Chromosome 1, 75749552: 75749552
23 ACADM NM_000016.5(ACADM): c.734C> T (p.Ser245Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434281 GRCh37 Chromosome 1, 76215129: 76215129
24 ACADM NM_000016.5(ACADM): c.734C> T (p.Ser245Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434281 GRCh38 Chromosome 1, 75749444: 75749444
25 ACADM NM_000016.5(ACADM): c.362C> T (p.Thr121Ile) single nucleotide variant Pathogenic rs121434283 GRCh37 Chromosome 1, 76199288: 76199288
26 ACADM NM_000016.5(ACADM): c.362C> T (p.Thr121Ile) single nucleotide variant Pathogenic rs121434283 GRCh38 Chromosome 1, 75733603: 75733603
27 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 GRCh37 Chromosome 1, 76198367: 76198367
28 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 GRCh38 Chromosome 1, 75732682: 75732682
29 ACADM NM_000016.5(ACADM): c.216+2T> G single nucleotide variant Pathogenic rs398123073 GRCh37 Chromosome 1, 76198428: 76198428
30 ACADM NM_000016.5(ACADM): c.216+2T> G single nucleotide variant Pathogenic rs398123073 GRCh38 Chromosome 1, 75732743: 75732743
31 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 GRCh37 Chromosome 1, 76198554: 76198554
32 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 GRCh38 Chromosome 1, 75732869: 75732869
33 ACADM NM_000016.5(ACADM): c.253G> A (p.Gly85Ser) single nucleotide variant Likely pathogenic rs398123075 GRCh37 Chromosome 1, 76198574: 76198574
34 ACADM NM_000016.5(ACADM): c.253G> A (p.Gly85Ser) single nucleotide variant Likely pathogenic rs398123075 GRCh38 Chromosome 1, 75732889: 75732889
35 ACADM NM_000016.5(ACADM): c.351A> C (p.Thr117=) single nucleotide variant risk factor rs74090726 GRCh37 Chromosome 1, 76199277: 76199277
36 ACADM NM_000016.5(ACADM): c.351A> C (p.Thr117=) single nucleotide variant risk factor rs74090726 GRCh38 Chromosome 1, 75733592: 75733592
37 ACADM NM_000016.5(ACADM): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic/Likely pathogenic rs373715782 GRCh37 Chromosome 1, 76211507: 76211507
38 ACADM NM_000016.5(ACADM): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic/Likely pathogenic rs373715782 GRCh38 Chromosome 1, 75745822: 75745822
39 ACADM NM_000016.5(ACADM): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs200724875 GRCh37 Chromosome 1, 76211508: 76211508
40 ACADM NM_000016.5(ACADM): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs200724875 GRCh38 Chromosome 1, 75745823: 75745823
41 ACADM NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs) duplication Pathogenic/Likely pathogenic rs786204566 GRCh37 Chromosome 1, 76198565: 76198565
42 ACADM NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs) duplication Pathogenic/Likely pathogenic rs786204566 GRCh38 Chromosome 1, 75732880: 75732880
43 ACADM NM_000016.5(ACADM): c.387+1delG deletion Conflicting interpretations of pathogenicity rs786204424 GRCh38 Chromosome 1, 75733629: 75733629
44 ACADM NM_000016.5(ACADM): c.387+1delG deletion Conflicting interpretations of pathogenicity rs786204424 GRCh37 Chromosome 1, 76199314: 76199314
45 ACADM NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs) deletion Pathogenic/Likely pathogenic rs786204642 GRCh37 Chromosome 1, 76200537: 76200540
46 ACADM NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs) deletion Pathogenic/Likely pathogenic rs786204642 GRCh38 Chromosome 1, 75734852: 75734855
47 ACADM NM_000016.5(ACADM): c.850-2A> G single nucleotide variant Likely pathogenic rs761317029 GRCh38 Chromosome 1, 75750449: 75750449
48 ACADM NM_000016.5(ACADM): c.850-2A> G single nucleotide variant Likely pathogenic rs761317029 GRCh37 Chromosome 1, 76216134: 76216134
49 ACADM NM_000016.5(ACADM): c.977T> C (p.Met326Thr) single nucleotide variant Likely pathogenic rs786204631 GRCh38 Chromosome 1, 75761153: 75761153
50 ACADM NM_000016.5(ACADM): c.977T> C (p.Met326Thr) single nucleotide variant Likely pathogenic rs786204631 GRCh37 Chromosome 1, 76226838: 76226838

Expression for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Search GEO for disease gene expression data for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency.

Pathways for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

GO Terms for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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