MCID: TTR005
MIFTS: 50

Tetrahydrobiopterin Deficiency malady

Metabolic diseases category

Summaries for Tetrahydrobiopterin Deficiency

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Tetrahydrobiopterin (bh4) deficiency is a neurological condition caused by an inborn error of metabolism. bh4 is a substance in the body that enhances the action of other enzymes. deficiency of bh4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. signs and symptoms can range from very mild to severe. affected newborns appear normal at birth, but may begin to experience neurological symptoms such as abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. without early, appropriate treatment, the condition can cause permanent intellectual disability and even death. bh4 deficiency is caused by mutations in any one of several genes including the gch1, pcbd1, pts, and qdpr genes. it is inherited in an autosomal recessive manner.treatment depends on the genetic cause and severity, and may include a low phenylalanine diet; oral bh4 supplementation; and neurotransmitter replacement. last updated: 11/2/2012

MalaCards: Tetrahydrobiopterin Deficiency, also known as hyperphenylalaninemia, non-phenylketonuric, is related to hyperphenylalaninemia and phenylketonuria. An important gene associated with Tetrahydrobiopterin Deficiency is PTS (6-pyruvoyltetrahydropterin synthase), and among its related pathways are tyrosine biosynthesis IV and Tyrosine metabolism p.1 (dopamine) . The compounds estrogen and 7-biopterin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and endothelial, and related mouse phenotypes are endocrine/exocrine gland and pigmentation.

Genetics Home Reference:21 Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain.

Wikipedia:63 Tetrahydrobiopterin deficiency (THBD, BH4D), also called THB or BH4 deficiency, is a rare metabolic... more...

Aliases & Classifications for Tetrahydrobiopterin Deficiency

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63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 60UMLS
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Classifications:

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


Aliases & Descriptions:

tetrahydrobiopterin deficiency 63 42 21
hyperphenylalaninemia, non-phenylketonuric 42 21 60
non-phenylketonuric hyperphenylalaninemia 63 42 21
bh4 deficiency 63 42 21
hyperphenylalaninemia caused by a defect in biopterin metabolism 42 21


Related Diseases for Tetrahydrobiopterin Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Tetrahydrobiopterin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia30.6GCH1, QDPR, PCBD1, TPH1, SPR, PTS
2phenylketonuria30.4PTS, PAH, QDPR
3gtp cyclohydrolase i deficiency30.2GCH1, QDPR, TH, PTS
4hyperprolactinemia30.0GH1, PRL, TH
5atherosclerosis30.0SOD1, NOS3, NOS1, PTS
6diabetes mellitus30.0SOD1, GH1, NOS3, PTS
7hyperphenylalaninemia, bh4-deficient, a10.2
8rabies10.0
9neuronitis10.0
10gastroparesis10.0
11hyperphenylalaninemia due to dehydratase deficiency10.0
126-pyruvoyl-tetrahydropterin synthase deficiency10.0
13cerebral palsy10.0GCH1
14migraine10.0TPH1
15panic disorder10.0TPH1
16autoimmune polyendocrine syndrome10.0TPH1
17borderline personality disorder10.0TPH1
18arthritis10.0HPRT1
19neuroblastoma10.0TH
20obsessive-compulsive disorder10.0TPH1
21tyrosine hydroxylase deficiency10.0TH
22acquired immunodeficiency syndrome10.0DHFR
23spina bifida10.0DHFR
24cystic fibrosis10.0PAH
25rett syndrome10.0TH
26irritable bowel syndrome10.0TPH1
27tuberculosis10.0DHFR
28down syndrome10.0SOD1
29glucose intolerance10.0GH1
30pancreatitis10.0SOD1
31multiple system atrophy10.0TH
32stomach cancer10.0PTS
33dwarfism10.0GH1
34toxic encephalopathy10.0TH
35intellectual disability10.0HPRT1, PAH
36tyrosinemia10.0PAH, PTS
37pheochromocytoma10.0TH, GCH1
38colorectal cancer10.0PTS, DHFR
39motor neuron disease10.0SOD1
40myopathy10.0NOS1, QDPR
41acute myocardial infarction10.0NOS1
42malaria10.0DHFR, HPRT1
43addison's disease10.0TH, TPH1
44xeroderma pigmentosum10.0HPRT1, DHFR
45hepatopulmonary syndrome10.0NOS3
46liver cirrhosis10.0NOS3
47dementia10.0NOS1, TH
48varicocele10.0PRL
49multiple endocrine neoplasia10.0TH
50movement disease10.0GCH1, TH

Graphical network of the top 20 diseases related to Tetrahydrobiopterin Deficiency:



Diseases related to tetrahydrobiopterin deficiency

Clinical Features for Tetrahydrobiopterin Deficiency

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Drugs & Therapeutics for Tetrahydrobiopterin Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Tetrahydrobiopterin Deficiency

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Genetic Tests for Tetrahydrobiopterin Deficiency

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Anatomical Context for Tetrahydrobiopterin Deficiency

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32MalaCards
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MalaCards organs/tissues related to Tetrahydrobiopterin Deficiency:

32
Brain, Testes, Endothelial

Animal Models for Tetrahydrobiopterin Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Tetrahydrobiopterin Deficiency:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.1HPRT1, PTS
2MP:00011869.9PCBD1
3MP:00053898.7GH1, PRL, PAH, PTS
4MP:00053697.9SOD1, HPRT1, NOS3, NOS1, PTS, TPH1
5MP:00107717.9PRL, PCBD1, HPRT1, TH, PAH, PTS
6MP:00053917.7SOD1, PCBD1, HPRT1, TH, NOS3, NOS1
7MP:00053857.6HPRT1, TH, NOS3, NOS1, PTS, TPH1
8MP:00053787.1GH1, HPRT1, TH, NOS3, NOS1, PAH
9MP:00053707.0SOD1, GH1, PRL, HPRT1, TH, NOS3
10MP:00053866.5TH, HPRT1, PRL, SOD1, NOS3, NOS1
11MP:00036316.2HPRT1, PRL, GH1, SOD1, TH, NOS3
12MP:00053765.7TPH1, SOD1, GH1, PRL, PCBD1, HPRT1

Publications for Tetrahydrobiopterin Deficiency

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50PubMed
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Articles related to Tetrahydrobiopterin Deficiency:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. (23942198)
2013
2
Tetrahydrobiopterin deficiency induces gastroparesis in newborn mice. (23639814)
2013
3
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. (21416196)
2011
4
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan. (21307867)
2011
5
Autophagy induction by tetrahydrobiopterin deficiency. (21795851)
2011
6
Tetrahydrobiopterin deficiency in human rabies. (18949578)
2009
7
The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]. (19534905)
2009
8
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. (17935162)
2008
9
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. (18060820)
2008
10
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia. (17680344)
2007
11
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population. (17188538)
2007
12
Proteasome-dependent degradation of guanosine 5'-triphosphate cyclohydrolase I causes tetrahydrobiopterin deficiency in diabetes mellitus. (17679617)
2007
13
Study on tetrahydrobiopterin deficiency in Northern Chinese population]. (16767663)
2006
14
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency. (16601866)
2006
15
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. (17091341)
2006
16
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. (16165389)
2005
17
Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency. (15390004)
2004
18
GTP cyclohydrolase I gene transfer reverses tetrahydrobiopterin deficiency and increases nitric oxide synthesis in endothelial cells and isolated vessels from diabetic rats. (15467010)
2004
19
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art. (12618080)
2003
20
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation. (11855940)
2002
21
Tetrahydrobiopterin deficiency increases neuronal vulnerability to hypoxia. (12358762)
2002
22
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. (11592814)
2001
23
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. (11438997)
2001
24
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. (11486900)
2001
25
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. (11694255)
2001
26
Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency. (10765502)
2000
27
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. (10484807)
1999
28
Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl. (9545000)
1998
29
Retrovirus-mediated double transduction of the GTPCH and PTPS genes allows 6-pyruvoyltetrahydropterin synthase-deficient human fibroblasts to synthesize and release tetrahydrobiopterin. (9648848)
1998
30
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. (9450907)
1998
31
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies. (8812740)
1996
32
International database of tetrahydrobiopterin deficiencies. (8830181)
1996
33
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse. (7542713)
1995
34
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. (7698774)
1994
35
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. (8433887)
1993
36
Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency. (7609464)
1993
37
Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin. (1588012)
1992
38
The screening diagnosis of tetrahydrobiopterin deficient phenylketonuria. (1289568)
1992
39
Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper. (1405479)
1992
40
Attempt at treatment with tetrahydrobiopterin in combined deficiency of xanthine oxidase and sulphite oxidase. (1779639)
1991
41
Gastrointestinal serotonin: depletion due to tetrahydrobiopterin deficiency induced by 2,4-diamino-6-hydroxypyrimidine administration. (1825228)
1991
42
A simple and sensitive method for the determination of pterins in cerebrospinal fluid. Clinical usefulness for management of tetrahydrobiopterin deficiency. (1779630)
1991
43
On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency). (2646129)
1989
44
Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency. (2885683)
1987
45
A model for hyperphenylalaninaemia due to tetrahydrobiopterin deficiency. (3088325)
1986
46
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein. (3099067)
1986
47
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants. (6696496)
1984
48
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test. (6434829)
1984
49
A case of tetrahydrobiopterin deficiency due to a defective synthesis of dihydrobiopterin. (6820430)
1982
50
Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin. (445845)
1979

Genetic Variations for Tetrahydrobiopterin Deficiency

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Expression for genes affiliated with Tetrahydrobiopterin Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tetrahydrobiopterin Deficiency

Search GEO for disease gene expression data for Tetrahydrobiopterin Deficiency.

Pathways for genes affiliated with Tetrahydrobiopterin Deficiency

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37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 29KEGG, 4Cell Signaling Technology
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Compounds for genes affiliated with Tetrahydrobiopterin Deficiency

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Tetrahydrobiopterin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 146)
idCompoundScoreTop Affiliating Genes
1estrogen4410.0TPH1, PCBD1, GCH1
27-biopterin4410.0QDPR, PCBD1, PAH
3Biopterin119.9SPR, PTS, DHFR
4dihydroneopterin triphosphate44 2410.9PTS, SPR, GCH1
5glutamate449.9PTS, TPH1, HPRT1
67,8-Dihydrobiopterin119.8TH, PCBD1, PAH
7tetrahydropterin449.8PAH, TH, TPH1
8neopterin449.5QDPR, PAH, PTS, TPH1, GCH1
9oxygen44 2410.4TPH1, PTS, NOS1, PAH
10(6r,1'r,2's)-5,6,7,8 Tetrahydrobiopterin119.4NOS3, NOS1, PAH
114a-hydroxytetrahydrobiopterin44 2410.4GCH1, TPH1, PAH, TH, PCBD1
12dihydrofolate449.3SPR, PAH, DHFR, QDPR, GCH1
136-pyruvoyltetrahydropterin449.3TH, PTS, SPR, PCBD1, GCH1, QDPR
14carbidopa44 2810.1PRL, TH, PTS, TPH1
15catecholamine449.1TPH1, PTS, TH, QDPR, GCH1, PAH
16ptio449.1NOS1, SOD1, NOS3
17mdma449.0TPH1, PRL, TH
18onoo448.9NOS1, SOD1, NOS3
19gtp44 289.9SPR, PTS, PAH, TH, GCH1, QDPR
20s-nitroso-n-acetylpenicillamine448.9TPH1, NOS3, SOD1, NOS1
21allopurinol44 49 1110.8NOS3, SOD1, HPRT1, NOS1
22valine448.8PAH, TPH1, NOS1, DHFR, HPRT1
23dopamine44 28 11 2411.8PTS, GCH1, QDPR, TPH1, SPR, NOS1
24phenylalanine448.6GCH1, QDPR, PCBD1, TH, PAH, PTS
25l-nmma448.6SOD1, GH1, NOS1, NOS3
26dihydropteridine44 249.5PCBD1, DHFR, TH, GCH1, QDPR, PAH
27dmso448.5TPH1, NOS1, HPRT1, GH1, SOD1
285-hydroxytryptophan448.4TPH1, PTS, TH, QDPR, GH1, PRL
29melatonin44 59 28 11 2412.4TPH1, SPR, GCH1, PAH, PRL, GH1
30opiate448.3TH, PRL, HPRT1, GH1
31norepinephrine44 11 2410.3QDPR, PRL, GCH1, SPR, TH, PAH
32peroxynitrite448.3TPH1, NOS3, SOD1, NOS1
33methotrexate44 49 1110.2DHFR, HPRT1, NOS1, QDPR, GH1, NOS3
34acetylcholine44 49 28 11 2412.2GH1, TPH1, QDPR, NOS1, TH, NOS3
35folate448.2GCH1, QDPR, HPRT1, DHFR, NOS3, NOS1
36glutamine448.2NOS1, PAH, TH, DHFR, HPRT1, GH1
37h2o2448.2TH, PAH, PTS, TPH1, GCH1, QDPR
38sodium nitroprusside448.1SOD1, GH1, TH, NOS3, NOS1, TPH1
39pterin44 249.1QDPR, PCBD1, DHFR, TH, NOS1, PAH
40pteridine448.1SPR, PTS, GCH1, QDPR, DHFR, TH
41nadph44 248.9QDPR, SPR, PTS, NOS3, DHFR, NOS1
42nitric oxide44 11 249.8SPR, NOS1, PTS, PAH, TPH1, GCH1
43ascorbic acid44 248.7TPH1, PTS, NOS1, NOS3, DHFR, SOD1
44alanine447.6PAH, QDPR, SOD1, GH1, NOS1, DHFR
45sepiapterin44 248.6PCBD1, TH, NOS3, NOS1, PAH, PTS
46dihydrobiopterin44 248.4TPH1, SPR, GCH1, QDPR, PCBD1, DHFR
47tetrahydrobiopterin44 11 249.4TH, NOS3, NOS1, PAH, SPR, DHFR
48cysteine447.4TH, DHFR, HPRT1, GH1, SOD1, TPH1
49levodopa44 118.3GCH1, SOD1, GH1, PRL, TPH1, PTS
50arginine446.1TPH1, PTS, PAH, NOS1, NOS3, DHFR

GO Terms for genes affiliated with Tetrahydrobiopterin Deficiency

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16Gene Ontology
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Cellular components related to Tetrahydrobiopterin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:0430059.6TPH1, TH, QDPR
2cytoplasmic vesicleGO:0314109.0GCH1, SOD1, TH
3cytoplasmGO:0057376.8SPR, GCH1, PTS, NOS1, NOS3, TH
4cytosolGO:0058296.3NOS1, SPR, TPH1, PAH, NOS3, TH

Biological processes related to Tetrahydrobiopterin Deficiency according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1catecholamine biosynthetic processGO:04242310.0TH, PAH
2L-phenylalanine catabolic processGO:00655910.0PAH, PCBD1, QDPR
3dopamine biosynthetic processGO:0424169.9TH, GCH1
4positive regulation of guanylate cyclase activityGO:0312849.7NOS1, NOS3
5negative regulation of hydrolase activityGO:0513469.7NOS3, NOS1
6neurotransmitter biosynthetic processGO:0421369.6PAH, NOS1, TH
7arginine catabolic processGO:0065279.6NOS1, NOS3
8tetrahydrobiopterin biosynthetic processGO:0067299.6SPR, PTS, PCBD1, QDPR, GCH1
9response to amphetamineGO:0019759.5TH, HPRT1, SOD1
10response to nutrient levelsGO:0316679.5TH, SOD1
11negative regulation of potassium ion transportGO:0432679.5NOS3, NOS1
12nitric oxide metabolic processGO:0462099.4GCH1, NOS3, PTS, SPR
13regulation of nitric-oxide synthase activityGO:0509999.4GCH1, NOS3, PTS, SPR
14negative regulation of blood pressureGO:0457769.4GCH1, NOS3, NOS1
15multicellular organismal response to stressGO:0335559.4PRL, NOS1
16nitric oxide mediated signal transductionGO:0072639.4NOS1, NOS3
17regulation of blood pressureGO:0082179.3NOS3, SOD1, GCH1
18cellular nitrogen compound metabolic processGO:0346419.3QDPR, PCBD1, TH, PAH, TPH1
19nitric oxide biosynthetic processGO:0068099.2GCH1, NOS3, NOS1, SPR
20response to heatGO:0094089.2SOD1, NOS3, NOS1
21positive regulation of JAK-STAT cascadeGO:0464279.1PRL, GH1
22response to estradiol stimulusGO:0323559.0TH, PRL, GH1
23response to ethanolGO:0454718.9SOD1, PRL, TH
24response to lipopolysaccharideGO:0324968.7GCH1, PRL, TH
25small molecule metabolic processGO:0442817.6GCH1, QDPR, PCBD1, HPRT1, TH, NOS3

Molecular functions related to Tetrahydrobiopterin Deficiency according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:0165979.7TPH1, PAH, TH
2nitric-oxide synthase activityGO:0045179.5NOS1, NOS3
3arginine bindingGO:0346189.5NOS3, NOS1
4NADPH-hemoprotein reductase activityGO:0039589.4NOS1, NOS3
5FMN bindingGO:0101819.4NOS1, NOS3
6NADP bindingGO:0506619.3NOS3, NOS1, SPR
7tetrahydrobiopterin bindingGO:0346179.3NOS1, NOS3, TH
8prolactin receptor bindingGO:0051489.2GH1, PRL
9cadmium ion bindingGO:0468709.1NOS1, NOS3
10iron ion bindingGO:0055069.0TPH1, PAH, NOS1, NOS3
11protein homodimerization activityGO:0428038.8GCH1, SOD1, QDPR, HPRT1, PTS

Products for genes affiliated with Tetrahydrobiopterin Deficiency

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Sources for Tetrahydrobiopterin Deficiency

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet