MCID: FTT003
MIFTS: 47

Fatty Acid Oxidation Disorders malady

Genetic diseases (common) category
Download this MalaCard

Summaries for Fatty Acid Oxidation Disorders

About this section


Fully expand this MalaCard
Wikipedia:65 A broad classification for genetic disorders that result from an inability of the body to produce or... more...

MalaCards based summary: Fatty Acid Oxidation Disorders is related to organic acidemia and short-chain acyl-coa dehydrogenase deficiency. An important gene associated with Fatty Acid Oxidation Disorders is CPT2 (carnitine palmitoyltransferase 2), and among its related pathways are beta-Alanine metabolism and Beta oxidation of octanoyl-CoA to hexanoyl-CoA. The compounds Methacrylyl-CoA and Tiglyl-CoA have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and whole blood, and related mouse phenotypes are adipose tissue and muscle.

Aliases & Classifications for Fatty Acid Oxidation Disorders

About this section

Fatty Acid Oxidation Disorders, Aliases & Descriptions:

Name: Fatty Acid Oxidation Disorders 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Fatty Acid Oxidation Disorders

About this section

Diseases related to Fatty Acid Oxidation Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1organic acidemia31.0ACADM, ACADS
2short-chain acyl-coa dehydrogenase deficiency30.8ACADM, ACADS
3d-bifunctional protein deficiency30.5SCP2, HSD17B4
4sudden infant death syndrome30.3HADHA, ACADS, ACADVL, ACADM, SLC25A20
5liver disease10.4
6mitochondrial trifunctional protein deficiency10.4
7trifunctional protein deficiency10.4
83-hydroxyacyl-coa dehydrogenase deficiency10.4
9myoglobinuria recurrent10.3ACADVL, CPT2
10carnitine palmitoyltransferase ii deficiency10.3CPT1A, CPT2
11abetalipoproteinemia10.3HADHA, CPT2
12phenylketonuria10.3ACADM, HADHA
13congenital adrenal hyperplasia10.3ACADM, HADHA
14systemic primary carnitine deficiency disease10.2ACADVL, ACADS, CPT2
15hellp syndrome10.2
16acute fatty liver of pregnancy10.2
17carnitine-acylcarnitine translocase deficiency10.2
18cyclic vomiting syndrome10.2
19mitochondrial disorders10.2CPT2, SLC25A20
20hypoalphalipoproteinemia10.2PPARA
21rhizomelic chondrodysplasia punctata type 110.2SCP2, HSD17B4
22rhizomelic chondrodysplasia punctata10.1SCP2, HSD17B4
23galactosemia10.1SLC25A13, ACADVL
24hyperammonemia multi-gene panels10.1SLC25A13, SLC25A20, ACADS
25noonan syndrome10.0HADHA, CPT2, ACADVL, ACADM, SLC25A20
26medium-chain acyl-coenzyme a dehydrogenase deficiency10.0HADHA, ACADS, ACADVL, ACADL, ACADM
27brain disease10.0CPT2, ACADS, ACADM, SLC25A13
28zellweger syndrome9.9SCP2, HSD17B4
29congenital heart disease9.8PPARA, CPT1A, ACADM, SLC25A20
30adrenoleukodystrophy9.8PPARA, HSD17B4, SCP2
31myopathy9.6HADHA, PPARA, CPT1A, CPT2, ACADS, ACADVL
32hypoglycemia9.3SLC25A13, HADHA, SLC25A20, ACADM, ACADL, ACADVL
33metabolic syndrome x9.2HADHA, PPARA, CPT1A, CPT2, ACADS, ACADVL
34fatty liver disease9.2HADHA, PPARA, SCP2, CPT1A, CPT2, ACADVL

Graphical network of the top 20 diseases related to Fatty Acid Oxidation Disorders:



Diseases related to fatty acid oxidation disorders

Symptoms for Fatty Acid Oxidation Disorders

About this section

Drugs & Therapeutics for Fatty Acid Oxidation Disorders

About this section

Drug clinical trials:

Search ClinicalTrials for Fatty Acid Oxidation Disorders

Search NIH Clinical Center for Fatty Acid Oxidation Disorders

Genetic Tests for Fatty Acid Oxidation Disorders

About this section

Genetic tests related to Fatty Acid Oxidation Disorders:

id Genetic test Affiliating Genes
1 Fatty Acid Oxidation Disorders20
2 Fatty Acid Oxidation Disorders Multi-Gene Panels20

Anatomical Context for Fatty Acid Oxidation Disorders

About this section

MalaCards organs/tissues related to Fatty Acid Oxidation Disorders:

32
Liver, Skin, Whole blood, Skeletal muscle, Placenta, Testes

Animal Models for Fatty Acid Oxidation Disorders or affiliated genes

About this section

MGI Mouse Phenotypes related to Fatty Acid Oxidation Disorders:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.3ACOT7, ACADVL, SCP2, PPARA
2MP:00053697.9HADHA, PPARA, HSD17B4, ACADS, ACADVL, ACADM
3MP:00107686.7HADHA, PPARA, HSD17B4, CPT1A, ACADS, ACADVL
4MP:00053786.7HADHA, PPARA, HSD17B4, SCP2, ACADVL, ACOT7
5MP:00053706.2SLC25A13, HADHA, PPARA, HSD17B4, SCP2, ACADS
6MP:00053765.7HADHA, PPARA, HSD17B4, SCP2, CPT1A, ACADS

Publications for Fatty Acid Oxidation Disorders

About this section

Articles related to Fatty Acid Oxidation Disorders:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Bezafibrate in skeletal muscle fatty acid oxidation disorders: a randomized clinical trial. (24453079)
2014
2
Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned? (25310995)
2014
3
Muscle MRI in patients with long-chain fatty acid oxidation disorders. (24305961)
2013
4
Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults. (23524598)
2013
5
Fatty Acid oxidation disorders in a chinese population in taiwan. (23700290)
2013
6
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. (21630065)
2012
7
Acute fatty liver in pregnancy: revealing fetal fatty acid oxidation disorders]. (22325456)
2012
8
Rubratoxin B induces signs of fatty acid oxidation disorders (FAODs) in mice. (21835235)
2011
9
Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans. (21156023)
2011
10
Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. (20830526)
2010
11
Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models. (20532823)
2010
12
Mitochondrial fatty acid oxidation disorders. Proceedings of an international symposium. October 2008. Fulda, Germany. (21275107)
2010
13
Clinical and biochemical monitoring of patients with fatty acid oxidation disorders. (20066495)
2010
14
Update on mitochondrial fatty acid oxidation disorders. (20842433)
2010
15
Pathophysiology of fatty acid oxidation disorders. (20824345)
2010
16
ESI-MS/MS measurement of free carnitine and its precursor I^-butyrobetaine in plasma and dried blood spots from patients with organic acidurias and fatty acid oxidation disorders. (20637671)
2010
17
Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders. (19422814)
2009
18
PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders. (18392740)
2008
19
3-hydroxyacyl-CoA dehydrogenase (HAD) deficiency replaces short-chain hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency as well as medium- and short-chain hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency as the consensus name of this fatty acid oxidation disorder. (17434778)
2007
20
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. (17301002)
2007
21
Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]. (18067086)
2007
22
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. (16297647)
2006
23
Potential of fibrates in the treatment of fatty acid oxidation disorders: revival of classical drugs? (16763897)
2006
24
Fatty acid oxidation disorder as a cause of sudden infant death syndrome (SIDS)--a case report. (16366103)
2005
25
The association between acute fatty liver of pregnancy and fatty acid oxidation disorders. (15673650)
2005
26
Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts. (15638818)
2005
27
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders. (16115821)
2005
28
Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases. (12582009)
2003
29
Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination. (12828998)
2003
30
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. (12385891)
2002
31
Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany. (12456920)
2002
32
Management of fatty acid oxidation disorders: a survey of current treatment strategies. (12487544)
2002
33
Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations. (11216903)
2000
34
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. (10682306)
2000
35
Improving the outcome for fatty acid oxidation disorders. (11045831)
2000
36
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome. (10490047)
1999
37
Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders. (10331471)
1999
38
A critical role for the peroxisome proliferator-activated receptor alpha (PPARalpha) in the cellular fasting response: the PPARalpha-null mouse as a model of fatty acid oxidation disorders. (10377439)
1999
39
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. (9627580)
1998
40
Neonatal onset in fatty acid oxidation disorders: how can we minimize morbidity and mortality? (9762596)
1998
41
Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders. (9702916)
1998
42
Dissecting the spectrum of fatty acid oxidation disorders. (9544886)
1998
43
Clinical and biochemical features of fatty acid oxidation disorders. (9848022)
1998
44
Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years. (9350306)
1997
45
Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. (7586519)
1995
46
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder. (7813533)
1994
47
Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver. (8056418)
1994
48
New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders. (7957387)
1994
49
The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. (1438380)
1992
50
Postmortem recognition of fatty acid oxidation disorders. (1866359)
1991

Variations for Fatty Acid Oxidation Disorders

About this section

Expression for genes affiliated with Fatty Acid Oxidation Disorders

About this section
Expression patterns in normal tissues for genes affiliated with Fatty Acid Oxidation Disorders

Search GEO for disease gene expression data for Fatty Acid Oxidation Disorders.

Pathways for genes affiliated with Fatty Acid Oxidation Disorders

About this section

Pathways related to Fatty Acid Oxidation Disorders according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
phenylethylamine degradation I37
9.9ACADM, HADHA
2
Show member pathways
9.9ACADM, HADHA
3
Show member pathways
9.8HADHA, ACADS
4
Show member pathways
oleate biosynthesis II (animals)37
9.7ACOT7, HADHA
59.6CPT1A, ACADVL, ACADM
6
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.6ACADM, ACADS, HADHA
79.5HADHA, CPT1A, ACADM
8
Show member pathways
9.5SCP2, HSD17B4
9
Show member pathways
9.5SCP2, HSD17B4
10
Show member pathways
9.5HSD17B4, SCP2
11
Show member pathways
9.3CPT1A, PPARA
12
Show member pathways
fatty acid beta-oxidation I37
eicosapentaenoate biosynthesis II (metazoa)37
gamma-linolenate biosynthesis II (animals)37
fatty acid activation37
9.2SCP2, HSD17B10, HADHA
13
Show member pathways
beta-alanine degradation I37
valine degradation I37
pyruvate fermentation to lactate37
isoleucine degradation I37
9.2HADHA, HSD17B10, ACADS, ACADM
14
Show member pathways
mitochondrial L-carnitine shuttle pathway37
Saturated fatty acid biosynthesis60
8.4HADHA, CPT1A, CPT2, ACADS, ACADVL, ACADL
15
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
7.6ACADS, CPT2, CPT1A, SCP2, HADHA, ACADVL
16
Show member pathways
fatty acid beta-oxidation VI (peroxisome)37
7.5ACADL, CPT2, CPT1A, SCP2, HSD17B4, PPARA
17
Show member pathways
7.3SLC25A20, ACADM, ACADL, ACADVL, ACADS, CPT2
18
Show member pathways
5.3SLC25A13, SLC25A20, ACADM, ACADL, ACADVL, ACADS

Compounds for genes affiliated with Fatty Acid Oxidation Disorders

About this section
Sources:
24HMDB, 44Novoseek, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Fatty Acid Oxidation Disorders according to GeneCards/GeneDecks:

(show top 50)    (show all 224)
idCompoundScoreTop Affiliating Genes
1Methacrylyl-CoA249.7ACADS, HADHA, ACADM
2Tiglyl-CoA249.6ACADS, HADHA, ACADM
3acetyl-l-carnitine449.5HADHA, ACADVL, CPT1A, ACADM
42-methyl-3-hydroxybutyryl-coa44 2410.3HSD17B10, HSD17B4, HADHA
5(3S)-3-Hydroxyadipyl-CoA249.2HSD17B10, HSD17B4, HADHA
6octanoate449.0HADHA, ACADM, CPT1A, PPARA
7s-adenosylmethionine44 24 1110.7CPT1A, CPT2, ACADS, HADHA, SLC25A20, ACADM
8citrate448.5CPT1A, CPT2, HSD17B10, HADHA, PPARA
917beta-hydroxysteroid448.4SCP2, ACADS, HSD17B10, HSD17B4
10linoleic acid28 44 2410.4ACOT7, PPARA, ACADM, CPT1A, CPT2
11pristanic acid44 28 2410.4SLC25A20, ACADL, CPT2, CPT1A, SCP2, PPARA
12oleic acid44 28 24 1111.2ACOT7, CPT1A, SCP2, PPARA, ACADM
13Isobutyryl-CoA248.1ACOT7, ACADL, ACADVL, ACADS, ACADM, HADHA
14Hexanoyl-CoA248.1ACADVL, ACADM, ACOT7, ACADL, PPARA, ACADS
15Glutaconyl-CoA248.1HADHA, PPARA, ACADS, ACADVL, ACADL, ACOT7
16Butyryl-CoA248.1PPARA, ACADVL, ACADL, ACOT7, ACADM, HADHA
172-Methylhexanoyl-CoA248.1HADHA, PPARA, ACADS, ACADVL, ACADL, ACOT7
18Decanoyl-CoA (n-C10:0CoA)248.1ACADM, ACOT7, HADHA, PPARA, ACADS, ACADVL
19Undecanoyl-CoA248.1HADHA, PPARA, ACADS, ACADVL, ACADL, ACOT7
20Tetracosanoyl-CoA248.1PPARA, ACADS, ACADVL, ACADL, ACOT7, HADHA
21Pentanoyl-CoA248.1HADHA, PPARA, ACADS, ACADVL, ACADL, ACOT7
22trans-Octadec-2-enoyl-CoA248.0ACADM, ACOT7, HADHA, PPARA, ACADS, ACADVL
23Lauroyl-CoA248.0ACOT7, ACADM, ACADL, ACADVL, ACADS, HADHA
24Isovaleryl-CoA248.0HADHA, PPARA, ACADS, ACADVL, ACADL, ACOT7
25Nonanoyl-CoA248.0HADHA, PPARA, ACADS, ACADVL, ACADL, ACOT7
262-methylbutyryl-coa44 249.0ACADM, ACADL, ACADVL, PPARA, HADHA, ACOT7
27(2E)-Decenoyl-CoA248.0ACADL, ACOT7, ACADM, ACADVL, HADHA, PPARA
28Eicosanoyl-CoA248.0HADHA, PPARA, ACOT7, ACADL, ACADVL, ACADS
29octanoyl-coa44 249.0ACADVL, HADHA, PPARA, ACADM, ACOT7, ACADL
30(2E)-Dodecenoyl-CoA248.0ACADVL, ACADL, ACOT7, ACADM, HADHA, PPARA
31trans-2-Hexenoyl-CoA248.0PPARA, ACADS, ACADVL, ACADL, ACADM, ACOT7
32Pristanoyl-CoA248.0HADHA, PPARA, ACADS, ACADVL, ACADL, ACADM
33Crotonoyl-CoA248.0HADHA, ACADS, ACADM, ACOT7, ACADVL, ACADL
34(2E)-Octenoyl-CoA248.0ACADVL, ACADS, ACADL, ACOT7, ACADM, HADHA
35palmitate448.0HADHA, PPARA, SCP2, CPT1A, CPT2, ACADVL
363Z-dodecenoyl-CoA248.0PPARA, HADHA, ACADVL, ACADS, ACADL, ACADM
37Acrylyl-CoA248.0ACADM, ACOT7, ACADL, HADHA, ACADS, PPARA
38(2E)-Tetradecenoyl-CoA248.0ACADS, ACADVL, ACADL, ACADM, HADHA, PPARA
39stearoyl-coa44 249.0HADHA, PPARA, ACADS, ACADVL, ACOT7, ACADM
40(2E)-Hexadecenoyl-CoA248.0HADHA, PPARA, ACADS, ACADVL, ACADM, ACOT7
41Propionyl-CoA247.9ACADM, ACOT7, ACADL, ACADS, PPARA, HADHA
42Heptadecanoyl CoA247.9ACADVL, ACADM, HADHA, ACOT7, PPARA, ACADS
43carnitine447.7SLC25A20, ACADM, ACADL, ACADVL, ACADS, CPT2
44glutamate447.5SLC25A13, CPT2, HSD17B10, ACADS, ACADM, PPARA
45Palmityl-CoA247.5PPARA, CPT1A, CPT2, ACADM, ACOT7, ACADS
46Heptanoyl-CoA247.2HADHA, PPARA, ACADM, ACOT7, ACADL, ACADVL
47acetyl-coa44 248.0ACOT7, ACADM, ACADL, CPT2, CPT1A, SCP2
48lipid446.6PPARA, HSD17B10, SCP2, HADHA, ACADL, CPT1A
49acyl-coa445.8SLC25A20, PPARA, HADHA, HSD17B4, HSD17B10, ACADM
50fatty acid445.2HADHA, PPARA, HSD17B4, HSD17B10, SCP2, CPT1A

GO Terms for genes affiliated with Fatty Acid Oxidation Disorders

About this section

Cellular components related to Fatty Acid Oxidation Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426459.9ACADVL, HADHA
2peroxisomal matrixGO:0057829.2SCP2, HSD17B4
3mitochondrial matrixGO:0057598.8HSD17B10, ACADS, ACADVL, ACADL, ACADM
4mitochondrial inner membraneGO:0057438.0HADHA, HSD17B10, CPT1A, CPT2, ACADVL, SLC25A20
5mitochondrionGO:0057395.6SLC25A13, HADHA, HSD17B4, HSD17B10, SCP2, CPT1A

Biological processes related to Fatty Acid Oxidation Disorders according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1carnitine metabolic process, CoA-linkedGO:01925410.2ACADL, ACADM
2negative regulation of fatty acid oxidationGO:04632210.2ACADVL, ACADL
3regulation of cholesterol metabolic processGO:09018110.1ACADVL, ACADL
4negative regulation of fatty acid biosynthetic processGO:04571710.1ACADL, ACADVL
5temperature homeostasisGO:0016599.9ACADVL, ACADL
6carnitine shuttleGO:0068539.9SLC25A20, CPT2, CPT1A
7alpha-linolenic acid metabolic processGO:0361099.7HSD17B4, SCP2
8unsaturated fatty acid metabolic processGO:0335599.6HSD17B4, SCP2
9fatty acid beta-oxidation using acyl-CoA oxidaseGO:0335409.6HSD17B4, SCP2
10fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:0335399.6ACADS, ACADVL, ACADL, ACADM
11response to starvationGO:0425949.6ACADM, ACADS
12oxidation-reduction processGO:0551149.5ACADM, ACADL, HSD17B4
13positive regulation of fatty acid beta-oxidationGO:0320009.5CPT1A, PPARA
14bile acid metabolic processGO:0082069.5SCP2, HSD17B4
15bile acid biosynthetic processGO:0066999.4SCP2, HSD17B4
16fatty acid beta-oxidationGO:0066358.2ACADM, ACADL, ACADVL, ACADS, CPT2, CPT1A
17cellular lipid metabolic processGO:0442556.6CPT2, CPT1A, SCP2, HSD17B4, PPARA, HADHA
18small molecule metabolic processGO:0442815.6SLC25A13, SLC25A20, ACADM, ACADL, ACADVL, ACADS

Molecular functions related to Fatty Acid Oxidation Disorders according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1long-chain-acyl-CoA dehydrogenase activityGO:0044669.8ACADVL, ACADL
2long-chain-enoyl-CoA hydratase activityGO:0165089.7HADHA, HSD17B4
33-hydroxyacyl-CoA dehydrogenase activityGO:0038579.7HSD17B4, HADHA
4carnitine O-palmitoyltransferase activityGO:0040959.6CPT2, CPT1A
5long-chain fatty acyl-CoA bindingGO:0360429.5ACOT7, SCP2
6acyl-CoA dehydrogenase activityGO:0039959.4ACADS, ACADVL, ACADL, ACADM
7flavin adenine dinucleotide bindingGO:0506609.4ACADS, ACADVL, ACADL, ACADM
8fatty-acyl-CoA bindingGO:0000628.6ACOT7, ACADL, ACADS, SCP2, HADHA

Products for genes affiliated with Fatty Acid Oxidation Disorders

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Fatty Acid Oxidation Disorders

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet