Aliases & Classifications for Hyperphenylalaninemia

MalaCards integrated aliases for Hyperphenylalaninemia:

Name: Hyperphenylalaninemia 72 28 51
Hyperphenylalaninaemia 69

External Ids:

UMLS 69 C0751435

Summaries for Hyperphenylalaninemia

MalaCards based summary : Hyperphenylalaninemia, also known as hyperphenylalaninaemia, is related to hyperphenylalaninemia, bh4-deficient, b and mild hyperphenylalaninemia. An important gene associated with Hyperphenylalaninemia is PTS (6-Pyruvoyltetrahydropterin Synthase), and among its related pathways/superpathways are Metabolism and Neuroscience. The drugs Verapamil and calcium channel blockers have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Hyperphenylalaninemia

Diseases related to Hyperphenylalaninemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, b 33.6 GCH1 PTS QDPR TH
2 mild hyperphenylalaninemia 33.3 PAH PCBD1 PTS QDPR
3 segawa syndrome, autosomal recessive 31.8 GCH1 TH
4 dystonia, dopa-responsive 31.6 GCH1 SPR TH
5 phenylketonuria 31.5 BGLAP G6PD GCH1 PAH PTS QDPR
6 tetrahydrobiopterin deficiency 30.9 GCH1 NOS1 PAH PCBD1 PTS QDPR
7 maple syrup urine disease 29.6 CAT QDPR SOD1
8 hyperphenylalaninemia, bh4-deficient, a 12.5
9 hyperphenylalaninemia, bh4-deficient, c 12.4
10 hyperphenylalaninemia, bh4-deficient, d 12.4
11 maternal hyperphenylalaninemia 12.2
12 hyperphenylalaninemia due to dehydratase deficiency 12.2
13 hyperphenylalaninemia, mild, non-bh4-deficient 12.2
14 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 12.1
15 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 11.9
16 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 11.4
17 tyrosine-oxidase temporary deficiency 10.9
18 classic phenylketonuria 10.4 PAH PTS QDPR
19 congenital methemoglobinemia 10.3 G6PD SOD1
20 meningitis and encephalitis 10.2 CAT SOD1
21 intestinal perforation 10.2 NOS1 PTS
22 cerebritis 10.2
23 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2 CAT GCH1 PCBD1
24 hereditary dystonia 10.2 GCH1 TH
25 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1 MBP TH
26 dystonia 10.1
27 neonatal hypoxic and ischemic brain injury 10.0 MBP TH
28 isolated optic neuritis 9.9 CNP MBP
29 alacrima, achalasia, and mental retardation syndrome 9.9
30 hypothyroidism 9.9
31 tyrosinemia 9.9
32 lateral sclerosis 9.8 CAT NEFH NOS1 SOD1
33 galactosemia 9.7
34 aging 9.7
35 burns 9.7
36 leukemia 9.7
37 congenital hypothyroidism 9.7
38 vitamin b12 deficiency 9.7
39 lymphoblastic leukemia 9.7
40 microcephaly 9.7
41 histiocytosis 9.7
42 mitochondrial metabolism disease 9.7
43 thyroiditis 9.7
44 neuronitis 9.7
45 malignant histiocytosis 9.7
46 homocystinuria 9.7
47 streptococcal group a invasive disease 9.7
48 virus associated hemophagocytic syndrome 9.7
49 encephalopathy 9.7
50 hypotonia 9.7

Graphical network of the top 20 diseases related to Hyperphenylalaninemia:



Diseases related to Hyperphenylalaninemia

Symptoms & Phenotypes for Hyperphenylalaninemia

GenomeRNAi Phenotypes related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

25 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.6 SPR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.6 SPR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.6 DNAJC12
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.6 DNAJC12
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.6 DNAJC12
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.6 DNAJC12
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.6 DNAJC12
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.6 DNAJC12
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.6 DNAJC12
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.6 DNAJC12
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.6 GCH1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.6 DNAJC12
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.6 SPR
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.6 PRKG2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.6 GCH1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.6 DNAJC12 GCH1 PRKG2 SPR

MGI Mouse Phenotypes related to Hyperphenylalaninemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 CACNA1C CNP MBP NEFH NOS1 PAH
2 cellular MP:0005384 10.06 CACNA1C CAT CNP G6PD MBP NEFH
3 homeostasis/metabolism MP:0005376 10.06 CACNA1C CAT CNP G6PD GCH1 MBP
4 growth/size/body region MP:0005378 10 CNP G6PD MBP NOS1 PAH PRKG2
5 mortality/aging MP:0010768 9.73 G6PD GCH1 MBP CACNA1C CAT CNP
6 nervous system MP:0003631 9.4 SOD1 SPR TH CACNA1C CNP G6PD

Drugs & Therapeutics for Hyperphenylalaninemia

Drugs for Hyperphenylalaninemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4,Phase 2,Phase 1 52-53-9 2520
2 calcium channel blockers Phase 4,Phase 2,Phase 1
3 Vasodilator Agents Phase 4,Phase 2,Phase 1
4 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
5 Calcium, Dietary Phase 4,Phase 2,Phase 1
6 Pharmaceutical Solutions Phase 4
7 Protective Agents Phase 4
8 Antioxidants Phase 4
9 phenylalanine Nutraceutical Phase 3,Phase 2
10
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
11
Norgestimate Approved, Investigational Phase 1 35189-28-7 6540478
12
Moxifloxacin Approved, Investigational Phase 1 151096-09-2, 354812-41-2 152946
13
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
14 Estradiol valerate Phase 1 979-32-8
15 Fluoroquinolones Phase 1
16 Topoisomerase Inhibitors Phase 1
17 Contraceptive Agents Phase 1
18 Contraceptives, Oral Phase 1
19 Contraceptives, Oral, Combined Phase 1
20 Norgestimate, ethinyl estradiol drug combination Phase 1
21 Nucleic Acid Synthesis Inhibitors Phase 1
22 Anti-Bacterial Agents Phase 1
23 Estradiol 17 beta-cypionate Phase 1
24 Estradiol 3-benzoate Phase 1
25 Anti-Infective Agents Phase 1
26 Polyestradiol phosphate Phase 1
27 Vitamins
28 tyrosine Nutraceutical

Interventional clinical trials:

(show all 19)

# Name Status NCT ID Phase Drugs
1 Antioxidant Signature in Adult Patients With Phenylketonuria Completed NCT02212288 Phase 4
2 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4 Kuvan®
3 An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Completed NCT01819727 Phase 3 BMN 165
4 Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety Terminated NCT00432822 Phase 2, Phase 3 tetrahydrobiopterin (BH4)
5 Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency Completed NCT00355264 Phase 2 Phenoptin
6 Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Unknown status NCT00244218 Phase 1 tetrahydrobiopterin (BH4)
7 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1 sapropterin dihydrochloride;Moxifloxacin
8 Sapropterin Expanded Access Program Approved for marketing NCT00484991 Sapropterin dihydrochloride
9 Phenylketonuria and Hyperphenylalaninemia Nutrition Study Completed NCT01879995
10 Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia Completed NCT01869972
11 Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study Completed NCT01924026
12 Bone Mineral Density in Adults With Hyperphenylalaninemia Completed NCT01209819
13 Hyperphenylalaninemia in Cerebral Malaria Completed NCT00338520
14 Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU) Completed NCT00065299
15 PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry Recruiting NCT00778206 Kuvan
16 Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency Active, not recruiting NCT01016392
17 Study of a National Cohort of Adult Patients With Phenylketonuria Active, not recruiting NCT01619722
18 Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia Enrolling by invitation NCT03167697
19 Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy Terminated NCT01541397 Sapropterin

Search NIH Clinical Center for Hyperphenylalaninemia

Genetic Tests for Hyperphenylalaninemia

Genetic tests related to Hyperphenylalaninemia:

# Genetic test Affiliating Genes
1 Hyperphenylalaninemia 28

Anatomical Context for Hyperphenylalaninemia

MalaCards organs/tissues related to Hyperphenylalaninemia:

38
Brain, Bone, Testes, Liver, Cortex, Fetal Brain, Cerebellum

Publications for Hyperphenylalaninemia

Articles related to Hyperphenylalaninemia:

(show top 50) (show all 317)
# Title Authors Year
1
Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma. ( 29317692 )
2018
2
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria. ( 28293905 )
2017
3
Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007-2015). ( 29184644 )
2017
4
DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia. ( 28389235 )
2017
5
Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels. ( 28504493 )
2017
6
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia. ( 28801146 )
2017
7
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. ( 28794131 )
2017
8
Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria. ( 28850634 )
2017
9
Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia. ( 29032371 )
2017
10
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. ( 28132689 )
2017
11
"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening. ( 29102225 )
2017
12
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios. ( 26910740 )
2016
13
DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria. ( 26822703 )
2016
14
Genetic background of hyperphenylalaninemia in Nagasaki, Japan. ( 27173423 )
2016
15
Prevalence of neonatal hyperphenylalaninemia in yazd province, iran. ( 25999633 )
2015
16
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling. ( 25726095 )
2015
17
Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran. ( 28649530 )
2015
18
Vitamin and mineral status in patients with hyperphenylalaninemia. ( 26123187 )
2015
19
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. ( 25418970 )
2015
20
Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency? ( 26226119 )
2015
21
Micronutrient in hyperphenylalaninemia. ( 26322328 )
2015
22
Hyperphenylalaninemia and the genomic revolution. ( 25549965 )
2015
23
Executive functioning of 4 children with hyperphenylalaninemia from childhood to adolescence. ( 25825540 )
2015
24
Cognitive functioning in mild hyperphenylalaninemia. ( 28649547 )
2015
25
Intellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National Program. ( 26635939 )
2015
26
Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring-Implications for clinical management of patients with hyperphenylalaninemia. ( 25261586 )
2014
27
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeqa8c panel and Ion Torrent PGM sequencing. ( 25456745 )
2014
28
Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia. ( 25237320 )
2014
29
Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong. ( 24803483 )
2014
30
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. ( 23436109 )
2013
31
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. ( 23942198 )
2013
32
Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience. ( 23771645 )
2013
33
Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy. ( 23537842 )
2013
34
Mutation analysis in hyperphenylalaninemia patients from South Italy. ( 23792259 )
2013
35
Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia. ( 24376837 )
2013
36
A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia. ( 24133926 )
2013
37
[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province]. ( 24078561 )
2013
38
Antioxidant treatment strategies for hyperphenylalaninemia. ( 23657560 )
2013
39
DNA damage induced by phenylalanine and its analogue p-chlorophenylalanine in blood and brain of rats subjected to a model of hyperphenylalaninemia. ( 24032682 )
2013
40
Mutation analysis in mild hyperphenylalaninemia (HPA) patients - Whom and what to screen? ( 24246852 )
2013
41
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations. ( 23357515 )
2013
42
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model. ( 22644647 )
2012
43
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. ( 22205310 )
2012
44
Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation. ( 20823030 )
2011
45
Non-PKU mild hyperphenylalaninemia (MHP)--the dilemma. ( 21632269 )
2011
46
Mild hyperphenylalaninemia: to treat or not to treat. ( 21347590 )
2011
47
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. ( 21336059 )
2011
48
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. ( 20818608 )
2011
49
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China. ( 21933604 )
2011
50
Neurocognitive function in mild hyperphenylalaninemia. ( 21418193 )
2011

Variations for Hyperphenylalaninemia

Expression for Hyperphenylalaninemia

Search GEO for disease gene expression data for Hyperphenylalaninemia.

Pathways for Hyperphenylalaninemia

Pathways related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 CACNA1C CAT G6PD GCH1 NOS1 PAH
2 12.03 CNP MBP NEFH NOS1 SOD1 TH
3
Show member pathways
11.79 PAH PCBD1 QDPR
4
Show member pathways
11.73 CAT NEFH NOS1 SOD1
5 11.47 NEFH NOS1 SOD1
6
Show member pathways
11.35 GCH1 PRKG2 PTS SPR
7
Show member pathways
11.18 CAT NOS1 SOD1
8
Show member pathways
10.78 PAH TH TPH1
9
Show member pathways
10.69 GCH1 PAH PCBD1 PTS QDPR SPR
10 10.66 SOD1 TH
11 10.61 NOS1 PRKG2
12 10.56 CACNA1C TH
13 10.34 CNP MBP

GO Terms for Hyperphenylalaninemia

Cellular components related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.87 CAT NEFH NOS1 PTS QDPR SOD1
2 cytoplasm GO:0005737 9.83 BGLAP CACNA1C CNP DNAJC12 G6PD GCH1
3 neuron projection GO:0043005 9.56 QDPR SOD1 TH TPH1
4 cytosol GO:0005829 9.47 CAT CNP G6PD GCH1 NOS1 PAH
5 myelin sheath GO:0043209 9.46 CNP MBP NEFH SOD1

Biological processes related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.91 BGLAP CAT SOD1 TH
2 aging GO:0007568 9.83 BGLAP CAT CNP SOD1
3 response to organic cyclic compound GO:0014070 9.79 BGLAP G6PD TH
4 response to toxic substance GO:0009636 9.77 CAT CNP MBP
5 cellular response to oxidative stress GO:0034599 9.76 CAT G6PD SOD1
6 response to nutrient levels GO:0031667 9.72 BGLAP SOD1 TH
7 cellular response to growth factor stimulus GO:0071363 9.71 BGLAP CAT NOS1 TH
8 substantia nigra development GO:0021762 9.69 CNP G6PD MBP
9 response to activity GO:0014823 9.67 BGLAP CAT TH
10 response to ethanol GO:0045471 9.65 BGLAP CAT G6PD SOD1 TH
11 oxidation-reduction process GO:0055114 9.65 CAT G6PD NOS1 PAH PCBD1 QDPR
12 neurotransmitter biosynthetic process GO:0042136 9.63 NOS1 PAH TH
13 vasodilation GO:0042311 9.62 GCH1 NOS1
14 nitric oxide biosynthetic process GO:0006809 9.61 GCH1 NOS1 SPR
15 response to lead ion GO:0010288 9.6 CAT QDPR
16 response to reactive oxygen species GO:0000302 9.58 CAT SOD1
17 dopamine biosynthetic process GO:0042416 9.57 GCH1 TH
18 neurofilament cytoskeleton organization GO:0060052 9.56 NEFH SOD1
19 catecholamine biosynthetic process GO:0042423 9.54 PAH TH
20 L-phenylalanine catabolic process GO:0006559 9.54 PAH PCBD1 QDPR
21 aromatic amino acid family metabolic process GO:0009072 9.5 PAH TH TPH1
22 dihydrobiopterin metabolic process GO:0051066 9.48 GCH1 QDPR
23 regulation of nitric-oxide synthase activity GO:0050999 9.46 GCH1 PRKG2 PTS SPR
24 tetrahydrobiopterin biosynthetic process GO:0006729 9.02 GCH1 PCBD1 PTS QDPR SPR

Molecular functions related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.8 CAT G6PD GCH1 PRKG2 PTS QDPR
2 iron ion binding GO:0005506 9.71 NOS1 PAH TH TPH1
3 NADP binding GO:0050661 9.46 CAT G6PD NOS1 SPR
4 tetrahydrobiopterin binding GO:0034617 9.37 NOS1 TH
5 phenylalanine 4-monooxygenase activity GO:0004505 9.32 PAH PCBD1
6 oxidoreductase activity GO:0016491 9.28 CAT G6PD NOS1 PAH QDPR SOD1
7 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 9.13 PAH TH TPH1

Sources for Hyperphenylalaninemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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