CUD
MCID: SYS002
MIFTS: 61

Systemic Primary Carnitine Deficiency Disease (CUD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Nephrological diseases categories
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Summaries for Systemic Primary Carnitine Deficiency Disease

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NIH Rare Diseases:42 Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). the nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. some individuals may only have fatigability in adulthood, or no symptoms at all. this condition is caused by mutations in the slc22a5 gene and is inherited in an autosomal recessive manner. treatment and prevention of symptoms typically includes oral l-carnitine supplementation. last updated: 7/9/2012

MalaCards based summary: Systemic Primary Carnitine Deficiency Disease, also known as systemic primary carnitine deficiency, is related to primary ciliary dyskinesia and glutaric acidemia iic, and has symptoms including An important gene associated with Systemic Primary Carnitine Deficiency Disease is SLC22A5 (solute carrier family 22 (organic cation/carnitine transporter), member 5), and among its related pathways are triacylglycerol biosynthesis and PPAR signaling pathway. The compounds riboflavin and triacylglycerol have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skeletal muscle, and related mouse phenotypes are muscle and liver/biliary system.

Disease Ontology:8 An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.

Genetics Home Reference:21 Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.

Description from OMIM:46 212140

GeneReviews summary for cdsp

Aliases & Classifications for Systemic Primary Carnitine Deficiency Disease

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Systemic Primary Carnitine Deficiency Disease, Aliases & Descriptions:

Name: Systemic Primary Carnitine Deficiency Disease 8 10
Systemic Primary Carnitine Deficiency 19 42 20 48
Renal Carnitine Transport Defect 8 22 21 62
Carnitine Uptake Deficiency 42 21 48 62
Carnitine Uptake Defect 8 19 42 21
Carnitine Deficiency, Systemic Primary 9 46 62
Carnitine Transporter Deficiency 8 42 21
Primary Carnitine Deficiency 8 42 21
Cud 19 21 48
 
Deficiency of Plasma-Membrane Carnitine Transporter 8 48
Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine 42
Carnitine Plasma-Membrane Transporter Deficiency 42
Primary Systemic Carnitine Deficiency 48
Systemic Carnitine Deficiency 21
Carnitine Deficiency, Primary 44
Carnitine Transporter Defect 48
Cdsp 19
Pcd 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
systemic primary carnitine deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


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Disease Ontology8 DOID:14365
ICD9CM27 277.81
MeSH34 C536778
SNOMED-CT57 21764004
OMIM46 212140
ICD10 via Orphanet26 E71.3

Related Diseases for Systemic Primary Carnitine Deficiency Disease

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Diseases related to Systemic Primary Carnitine Deficiency Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1primary ciliary dyskinesia10.5
2glutaric acidemia iic10.4ETFDH
3carnitine palmitoyltransferase ii deficiency10.3CPT2
4reye syndrome10.3
5paraneoplastic cerebellar degeneration10.2
6citrin deficiency10.2
7glycogen storage disease10.2
8holocarboxylase synthetase deficiency10.2
9neuropathy10.2
10peripheral neuropathy10.2
11bronchiectasis10.2
12retinitis10.2
13dilated cardiomyopathy10.1
14endocardial fibroelastosis10.1
15long qt syndrome10.1
16visceral steatosis10.1
17medium-chain acyl-coenzyme a dehydrogenase deficiency10.1ACADVL, ACADS
18lipid storage disease10.1
19pericardial effusion10.1
20brain disease10.0ACADS, CPT2
21cerebellar ataxia10.0
22hydrocephalus10.0
23kartagener syndrome10.0
24retinitis pigmentosa10.0
25wilms tumor10.0
26bronchopneumonia10.0
27microcephaly10.0
28protein c deficiency10.0
29cerebellar degeneration10.0
30ataxia10.0
31ciliary dyskinesia, primary, 1110.0
32myoglobinuria recurrent10.0ACADVL, CPT2
33sudden infant death syndrome10.0SLC22A5, ACADVL, ACADS
34fatty liver disease9.8SCD, CPT2, ACADVL
35noonan syndrome9.8CPT2, ACADVL, SLC22A5
36hypoglycemia9.8CPT2, ETFDH, ACADS, ACADVL
37myopathy9.7CPT2, ETFDH, ACADS, ACADVL
38insulin resistance9.6CPT2, SCD, PNPLA2
39neutral lipid storage disease9.6ABHD5, PNPLA2, ETFDH, ETFB, SLC22A5
40obesity9.5PNPLA2, SCD, CPT2
41metabolic syndrome x9.2PNPLA2, SCD, CPT2, ETFDH, ACADS, ACADVL

Graphical network of the top 20 diseases related to Systemic Primary Carnitine Deficiency Disease:



Diseases related to systemic primary carnitine deficiency disease

Symptoms for Systemic Primary Carnitine Deficiency Disease

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Symptoms by clinical synopsis from OMIM:

212140

Clinical features from OMIM:

212140

HPO human phenotypes related to Systemic Primary Carnitine Deficiency Disease:

(show all 22)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 muscular hypotonia HP:0001252
3 lethargy HP:0001254
4 coma HP:0001259
5 somnolence HP:0001262
6 confusion HP:0001289
7 encephalopathy HP:0001298
8 muscle weakness HP:0001324
9 muscle weakness HP:0001324
10 hepatic steatosis HP:0001397
11 failure to thrive HP:0001508
12 congestive heart failure HP:0001635
13 hypertrophic cardiomyopathy HP:0001639
14 cardiomegaly HP:0001640
15 endocardial fibroelastosis HP:0001706
16 hyperammonemia HP:0001987
17 recurrent hypoglycemia HP:0001988
18 vomiting HP:0002013
19 hepatomegaly HP:0002240
20 elevated hepatic transaminases HP:0002910
21 myopathy HP:0003198
22 impaired gluconeogenesis HP:0005959

Drugs & Therapeutics for Systemic Primary Carnitine Deficiency Disease

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Drug clinical trials:

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Search NIH Clinical Center for Systemic Primary Carnitine Deficiency Disease

Genetic Tests for Systemic Primary Carnitine Deficiency Disease

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Genetic tests related to Systemic Primary Carnitine Deficiency Disease:

id Genetic test Affiliating Genes
1 Systemic Primary Carnitine Deficiency20 SLC22A5
2 Renal Carnitine Transport Defect22

Anatomical Context for Systemic Primary Carnitine Deficiency Disease

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MalaCards organs/tissues related to Systemic Primary Carnitine Deficiency Disease:

32
Brain, Heart, Skeletal muscle, Kidney

Animal Models for Systemic Primary Carnitine Deficiency Disease or affiliated genes

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MGI Mouse Phenotypes related to Systemic Primary Carnitine Deficiency Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5ACADVL, ACADS, PNPLA2, ABHD5
2MP:00053707.9SLC22A5, ACADVL, ACADS, SCD, PNPLA2, ABHD5
3MP:00053767.8ABHD5, PNPLA2, SCD, ACADS, ACADVL, SLC22A5
4MP:00107687.6ABHD5, PNPLA2, SCD, ACADS, ACADVL, SLC22A5

Publications for Systemic Primary Carnitine Deficiency Disease

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Variations for Systemic Primary Carnitine Deficiency Disease

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UniProtKB/Swiss-Prot genetic disease variations for Systemic Primary Carnitine Deficiency Disease:

64 (show all 49)
id Symbol AA change Variation ID SNP ID
1SLC22A5p.Arg169GlnVAR_009252
2SLC22A5p.Tyr211CysVAR_009253
3SLC22A5p.Trp283ArgVAR_009254
4SLC22A5p.Val446PheVAR_009255
5SLC22A5p.Glu452LysVAR_009256
6SLC22A5p.Pro478LeuVAR_009257
7SLC22A5p.Phe17LeuVAR_020347
8SLC22A5p.Met179LeuVAR_022564
9SLC22A5p.Trp283CysVAR_022565
10SLC22A5p.Ser467CysVAR_022566rs60376624
11SLC22A5p.Tyr449AspVAR_029315rs11568514
12SLC22A5p.Gly12SerVAR_064109rs139203363
13SLC22A5p.Gly15TrpVAR_064110
14SLC22A5p.Arg19ProVAR_064111
15SLC22A5p.Asn32SerVAR_064112
16SLC22A5p.Pro46SerVAR_064113
17SLC22A5p.Arg83LeuVAR_064116
18SLC22A5p.Asp122TyrVAR_064118
19SLC22A5p.Ala142SerVAR_064120
20SLC22A5p.Arg169TrpVAR_064122
21SLC22A5p.Leu186ProVAR_064124
22SLC22A5p.Ala214ValVAR_064125
23SLC22A5p.Arg227HisVAR_064126rs185551386
24SLC22A5p.Thr232MetVAR_064128rs114269482
25SLC22A5p.Gly234ArgVAR_064129
26SLC22A5p.Gly242ValVAR_064131
27SLC22A5p.Arg257TrpVAR_064132
28SLC22A5p.Thr264ArgVAR_064133
29SLC22A5p.Arg282GlnVAR_064134
30SLC22A5p.Ala301AspVAR_064135
31SLC22A5p.Trp351ArgVAR_064137
32SLC22A5p.Ser355LeuVAR_064138
33SLC22A5p.Ser362LeuVAR_064140
34SLC22A5p.Pro398LeuVAR_064141
35SLC22A5p.Arg399GlnVAR_064142
36SLC22A5p.Arg399TrpVAR_064143
37SLC22A5p.Thr440MetVAR_064144
38SLC22A5p.Ala442IleVAR_064145
39SLC22A5p.Phe443ValVAR_064146
40SLC22A5p.Tyr447CysVAR_064147
41SLC22A5p.Pro455ArgVAR_064148
42SLC22A5p.Thr468ArgVAR_064149
43SLC22A5p.Arg471CysVAR_064150
44SLC22A5p.Arg488CysVAR_064151
45SLC22A5p.Leu507SerVAR_064152
46SLC22A5p.Ser26AsnVAR_066843
47SLC22A5p.Ser280PheVAR_066844
48SLC22A5p.Arg471ProVAR_066845
49SLC22A5p.Arg488HisVAR_066846rs28383481

Clinvar genetic disease variations for Systemic Primary Carnitine Deficiency Disease:

6 (show all 29)
id Gene Name Type Significance SNP ID Assembly Location
1SLC22A5NM_003060.3(SLC22A5): c.51C> G (p.Phe17Leu)single nucleotide variantPathogenicrs11568520GRCh37Chr 5, 131705715: 131705715
2SLC22A5NM_003060.3(SLC22A5): c.248G> T (p.Arg83Leu)single nucleotide variantPathogenicrs72552726GRCh37Chr 5, 131705912: 131705912
3SLC22A5NM_003060.3(SLC22A5): c.424G> T (p.Ala142Ser)single nucleotide variantPathogenicrs151231558GRCh37Chr 5, 131714100: 131714100
4SLC22A5NM_003060.3(SLC22A5): c.695C> T (p.Thr232Met)single nucleotide variantPathogenicrs114269482GRCh37Chr 5, 131721062: 131721062
5SLC22A5NM_003060.3(SLC22A5): c.845G> A (p.Arg282Gln)single nucleotide variantPathogenicrs386134210GRCh37Chr 5, 131722737: 131722737
6SLC22A5NM_003060.3(SLC22A5): c.1193C> T (p.Pro398Leu)single nucleotide variantPathogenicrs144547521GRCh37Chr 5, 131726522: 131726522
7SLC22A5NM_003060.3(SLC22A5): c.1400C> G (p.Ser467Cys)single nucleotide variantPathogenicrs60376624GRCh37Chr 5, 131728257: 131728257
8SLC22A5NM_003060.3(SLC22A5): c.1463G> A (p.Arg488His)single nucleotide variantPathogenicrs28383481GRCh37Chr 5, 131729380: 131729380
9SLC22A5SLC22A5, 113-BP DELdeletionPathogenic
10SLC22A5SLC22A5, 1-BP INS, 226CinsertionPathogenic
11SLC22A5NM_003060.3(SLC22A5): c.396G> A (p.Trp132Ter)single nucleotide variantPathogenicrs72552727GRCh37Chr 5, 131714072: 131714072
12SLC22A5SLC22A5, IVS8AS, G-A, -1single nucleotide variantPathogenic
13SLC22A5SLC22A5, 1394-BP DELdeletionPathogenic
14SLC22A5SLC22A5, 19-BP INS, NT874insertionPathogenic
15SLC22A5SLC22A5, 171-BP DEL, NT875deletionPathogenic
16SLC22A5NM_003060.3(SLC22A5): c.844C> T (p.Arg282Ter)single nucleotide variantPathogenicrs121908886GRCh37Chr 5, 131722736: 131722736
17SLC22A5NM_003060.3(SLC22A5): c.1202dupA (p.Tyr401Terfs)duplicationPathogenicrs121908887GRCh37Chr 5, 131726531: 131726532
18SLC22A5SLC22A5, 1-BP DEL, 1345GdeletionPathogenic
19SLC22A5NM_003060.3(SLC22A5): c.1433C> T (p.Pro478Leu)single nucleotide variantPathogenicrs72552735GRCh37Chr 5, 131728290: 131728290
20SLC22A5NM_003060.3(SLC22A5): c.632A> G (p.Tyr211Cys)single nucleotide variantPathogenicrs121908888GRCh37Chr 5, 131719973: 131719973
21SLC22A5NM_003060.3(SLC22A5): c.506G> A (p.Arg169Gln)single nucleotide variantPathogenicrs121908889GRCh37Chr 5, 131719847: 131719847
22SLC22A5NM_003060.3(SLC22A5): c.505C> T (p.Arg169Trp)single nucleotide variantPathogenicrs121908890GRCh37Chr 5, 131719846: 131719846
23SLC22A5NM_003060.3(SLC22A5): c.1051T> C (p.Trp351Arg)single nucleotide variantPathogenicrs68018207GRCh37Chr 5, 131724712: 131724712
24SLC22A5NM_003060.3(SLC22A5): c.1196G> A (p.Arg399Gln)single nucleotide variantPathogenicrs121908891GRCh37Chr 5, 131726525: 131726525
25SLC22A5NM_003060.3(SLC22A5): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs121908892GRCh37Chr 5, 131705667: 131705667
26SLC22A5NM_003060.3(SLC22A5): c.760C> T (p.Arg254Ter)single nucleotide variantPathogenicrs121908893GRCh37Chr 5, 131721127: 131721127
27SLC22A5NM_003060.3(SLC22A5): c.1195C> T (p.Arg399Trp)single nucleotide variantPathogenicrs267607054GRCh37Chr 5, 131726524: 131726524
28SLC22A5NM_003060.3(SLC22A5): c.1324_1325delGCinsAT (p.Ala442Ile)indelPathogenicrs267607053GRCh37Chr 5, 131728181: 131728182
29SLC22A5NM_003060.3(SLC22A5): c.43G> T (p.Gly15Trp)single nucleotide variantPathogenicrs267607052GRCh37Chr 5, 131705707: 131705707

Expression for genes affiliated with Systemic Primary Carnitine Deficiency Disease

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Expression patterns in normal tissues for genes affiliated with Systemic Primary Carnitine Deficiency Disease

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Pathways for genes affiliated with Systemic Primary Carnitine Deficiency Disease

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Pathways related to Systemic Primary Carnitine Deficiency Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
phosphatidylglycerol biosynthesis II (non-plastidic)37
CDP-diacylglycerol biosynthesis I37
Triacylglyceride Synthesis37
9.6PNPLA2, ABHD5
2
Show member pathways
fatty acid beta-oxidation VI (peroxisome)37
9.3CPT2, SCD
3
Show member pathways
8.6CPT2, ACADS, ACADVL
4
Show member pathways
mitochondrial L-carnitine shuttle pathway37
Saturated fatty acid biosynthesis60
8.3SCD, CPT2, ACADS, ACADVL
5
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
8.1ACADVL, ACADS, CPT2, PNPLA2
6
Show member pathways
6.7ABHD5, PNPLA2, CPT2, ETFDH, ETFB, ACADS

Compounds for genes affiliated with Systemic Primary Carnitine Deficiency Disease

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Systemic Primary Carnitine Deficiency Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 167)
idCompoundScoreTop Affiliating Genes
1riboflavin44 24 1111.7ETFDH, ACADS
2triacylglycerol449.7SCD, PNPLA2, ABHD5
3L-Carnitine24 1110.5SLC22A5, CPT2
4Isobutyryl-CoA249.5ACADVL, ACADS, SCD
5Hexanoyl-CoA249.5ACADVL, ACADS, SCD
6Glutaconyl-CoA249.5SCD, ACADS, ACADVL
7Undecanoyl-CoA249.5SCD, ACADVL, ACADS
8Decanoyl-CoA (n-C10:0CoA)249.5ACADVL, SCD, ACADS
9Butyryl-CoA249.5SCD, ACADS, ACADVL
10Pentanoyl-CoA249.5SCD, ACADS, ACADVL
11Tetracosanoyl-CoA249.5ACADVL, ACADS, SCD
12trans-Octadec-2-enoyl-CoA249.5ACADVL, ACADS, SCD
13Nonanoyl-CoA249.5SCD, ACADVL, ACADS
14Isovaleryl-CoA249.5ACADVL, ACADS, SCD
15Lauroyl-CoA249.5ACADVL, ACADS, SCD
162-methylbutyryl-coa44 2410.5SCD, ACADS, ACADVL
172-Methylhexanoyl-CoA249.5ACADVL, ACADS, SCD
18Eicosanoyl-CoA249.5ACADVL, SCD, ACADS
19octanoyl-coa44 2410.5SCD, ACADVL, ACADS
203Z-dodecenoyl-CoA249.5ACADVL, ACADS, SCD
21(2E)-Decenoyl-CoA249.5ACADS, ACADVL, SCD
22(2E)-Dodecenoyl-CoA249.5ACADVL, ACADS, SCD
23trans-2-Hexenoyl-CoA249.4SCD, ACADS, ACADVL
24Pristanoyl-CoA249.4ACADVL, ACADS, SCD
25Crotonoyl-CoA249.4ACADS, SCD, ACADVL
26(2E)-Octenoyl-CoA249.4SCD, ACADS, ACADVL
27(2E)-Tetradecenoyl-CoA249.4ACADVL, ACADS, SCD
28Acrylyl-CoA249.4ACADVL, ACADS, SCD
29stearoyl-coa44 2410.4SCD, ACADVL, ACADS
30(2E)-Hexadecenoyl-CoA249.4ACADS, ACADVL, SCD
31Propionyl-CoA249.4ACADS, ACADVL, SCD
32Heptanoyl-CoA249.4SCD, ACADVL, ACADS
33TG(18:1(9Z)/20:0/20:0)[iso3]249.3CPT2, PNPLA2
34TG(20:0/20:0/20:0)249.2CPT2, PNPLA2
35TG(16:0/18:2(9Z,12Z)/20:1(11Z))[iso6]249.2PNPLA2, CPT2
36TG(16:0/16:1(9Z)/20:0)[iso6]249.1PNPLA2, CPT2
37TG(18:0/18:2(9Z,12Z)/20:1(11Z))[iso6]249.1CPT2, PNPLA2
38choline44 24 1111.0SLC22A5, ETFDH, CPT2
39TG(16:1(9Z)/18:0/18:2(9Z,12Z))[iso6]249.0CPT2, PNPLA2
40Heptadecanoyl CoA249.0ACADVL, ACADS, PNPLA2, SCD
41palmitate448.9CPT2, ACADVL, SCD
42FAD248.9ETFDH, ACADS, ETFB, ACADVL
43s-adenosylmethionine44 24 1110.9ACADS, ACADVL, CPT2
44TG(16:1(9Z)/20:1(11Z)/20:1(11Z))[iso3]248.8CPT2, PNPLA2
45carnitine448.7SLC22A5, CPT2, ACADVL, ACADS
46Palmityl-CoA248.7SCD, CPT2, ACADS, ACADVL
47acetyl-coa44 249.7SCD, ACADS, ACADVL, CPT2
48lipid447.8ACADVL, ACADS, CPT2, ABHD5, PNPLA2, SCD
49acyl-coa447.8CPT2, ACADVL, ETFDH, ACADS, ETFB, SCD
50fatty acid447.7ACADVL, SCD, ETFDH, ACADS, CPT2, PNPLA2

GO Terms for genes affiliated with Systemic Primary Carnitine Deficiency Disease

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Cellular components related to Systemic Primary Carnitine Deficiency Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial membraneGO:0319669.5ACADS, ETFDH
2lipid particleGO:0058119.3PNPLA2, ABHD5
3intracellular membrane-bounded organelleGO:0432319.1ETFB, PNPLA2, ABHD5
4mitochondrial matrixGO:0057598.5ACADVL, ACADS, ETFB, ETFDH
5mitochondrionGO:0057398.1CPT2, ETFB, ACADS, ACADVL

Biological processes related to Systemic Primary Carnitine Deficiency Disease according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of sequestering of triglycerideGO:0108919.6PNPLA2, ABHD5
2positive regulation of triglyceride catabolic processGO:0108989.6PNPLA2, ABHD5
3respiratory electron transport chainGO:0229049.5ETFB, ETFDH
4triglyceride catabolic processGO:0194339.3PNPLA2, ABHD5
5fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:0335399.1ACADVL, ACADS, ETFDH
6fatty acid beta-oxidationGO:0066358.7CPT2, ACADS, ACADVL
7cellular lipid metabolic processGO:0442558.5CPT2, ACADS, ACADVL
8small molecule metabolic processGO:0442816.9ABHD5, PNPLA2, CPT2, ETFDH, ETFB, ACADS

Molecular functions related to Systemic Primary Carnitine Deficiency Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:0090559.5ETFB, ETFDH
2acyl-CoA dehydrogenase activityGO:0039959.3ACADVL, ACADS
3triglyceride lipase activityGO:0048069.3PNPLA2, ABHD5
4flavin adenine dinucleotide bindingGO:0506608.9ACADVL, ACADS, ETFDH

Products for genes affiliated with Systemic Primary Carnitine Deficiency Disease

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  • Antibodies
  • Proteins
  • Lysates

Sources for Systemic Primary Carnitine Deficiency Disease

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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