MCID: AMN002
MIFTS: 48

Amino Acid Metabolic Disorder

Categories: Metabolic diseases

Aliases & Classifications for Amino Acid Metabolic Disorder

MalaCards integrated aliases for Amino Acid Metabolic Disorder:

Name: Amino Acid Metabolic Disorder 12 14
Amino Acid Metabolism, Inborn Errors 42 69
Inborn Errors of Amino Acid Metabolism 12
Disorder of Amino Acid Metabolism 29
Amino Acid Metabolism Disorders 41

Classifications:



External Ids:

Disease Ontology 12 DOID:9252
ICD10 33 E72.9 E72 E72.8
ICD9CM 35 270 270.9
MeSH 42 D000592
NCIt 47 C97090
UMLS 69 C0002514

Summaries for Amino Acid Metabolic Disorder

MedlinePlus : 41 metabolism is the process your body uses to make energy from the food you eat. food is made up of proteins, carbohydrates, and fats. your digestive system breaks the food parts down into sugars and acids, your body's fuel. your body can use this fuel right away, or it can store the energy in your body. if you have a metabolic disorder, something goes wrong with this process. one group of these disorders is amino acid metabolism disorders. they include phenylketonuria (pku) and maple syrup urine disease. amino acids are "building blocks" that join together to form proteins. if you have one of these disorders, your body may have trouble breaking down certain amino acids. or there may be a problem getting the amino acids into your cells. these problems cause a buildup of harmful substances in your body. that can lead to serious, sometimes life-threatening, health problems. these disorders are usually inherited. a baby who is born with one may not have any symptoms right away. because the disorders can be so serious, early diagnosis and treatment are critical. newborn babies get screened for many of them, using blood tests. treatments may include special diets, medicines, and supplements. some babies may also need additional treatments if there are complications.

MalaCards based summary : Amino Acid Metabolic Disorder, also known as amino acid metabolism, inborn errors, is related to cystinuria and serine deficiency. An important gene associated with Amino Acid Metabolic Disorder is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Pancrelipase and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and kidney, and related phenotypes are growth/size/body region and homeostasis/metabolism

Disease Ontology : 12 An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.

Related Diseases for Amino Acid Metabolic Disorder

Diseases related to Amino Acid Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
id Related Disease Score Top Affiliating Genes
1 cystinuria 32.6 SLC3A1 SLC7A7 SLC7A9
2 serine deficiency 31.9 MTHFR MTR MUT
3 hypotonia-cystinuria syndrome 30.4 SLC3A1 SLC7A9
4 homocystinuria due to mthfr deficiency 30.4 CBS MTHFR MTR
5 methylmalonic aciduria and homocystinuria, cblc type 29.4 CBS MMACHC MMD MTR
6 homocystinuria 24.8 ALDH5A1 BCKDHB CBS FAH GAMT HGD
7 inborn amino acid metabolism disorder 12.2
8 cystathioninuria 11.2
9 hyperlysinemia 11.2
10 urea cycle disorder 11.2
11 carbamoylphosphate synthetase i deficiency 11.2
12 glycine encephalopathy 11.2
13 alkaptonuria 11.2
14 hartnup disorder 11.2
15 argininosuccinic aciduria 11.2
16 hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 11.2
17 lysinuric protein intolerance 11.2
18 methylmalonyl-coa epimerase deficiency 11.1
19 hydroxykynureninuria 11.1
20 maternal hyperphenylalaninemia 11.1
21 mild phenylketonuria 11.1
22 phenylketonuria 11.0
23 carnitine deficiency, systemic primary 10.9
24 hyperphenylalaninemia, bh4-deficient, a 10.9
25 cerebral creatine deficiency syndrome 3 10.9
26 adenine phosphoribosyltransferase deficiency 10.9
27 brunner syndrome 10.9
28 hypermethioninemia 10.9
29 2-hydroxyglutaric aciduria 10.9
30 3-methylcrotonyl-coa carboxylase deficiency 10.9
31 organic acidemia 10.9
32 gamma-amino butyric acid metabolism disorder 10.9
33 multiple carboxylase deficiency 10.9
34 histidine metabolism disease 10.9
35 tyrosinemia 10.9
36 hyperhomocysteinemia 10.9
37 megacolon 10.7 CBS MTHFR
38 candidiasis, familial, 6, autosomal dominant 10.6 CBS MTHFR
39 dcx-related disorders 10.5 GAMT SLC6A8
40 cd19-related common variable immune deficiency 10.5 MTR MUT
41 dowling-degos disease 4 10.4 FAH HGD
42 congenital disorder of glycosylation, type iy 10.4 GAMT SLC6A8
43 albinism, oculocutaneous, type vi 10.4 GAMT SLC6A8
44 neural tube defects, folate-sensitive 10.4 MTHFR MTR
45 vulvar vestibulitis syndrome 10.4 MMAA MTR
46 ectopic pregnancy 10.4 CBS MTHFR MTR
47 priapism 10.3 CBS MTHFR MTR
48 deafness, autosomal recessive 15 10.2 GAMT SLC6A8
49 soft palate cancer 10.2 PCCA PCCB
50 malignant type ab thymoma 10.2 CBS MTHFR MTR

Graphical network of the top 20 diseases related to Amino Acid Metabolic Disorder:



Diseases related to Amino Acid Metabolic Disorder

Symptoms & Phenotypes for Amino Acid Metabolic Disorder

MGI Mouse Phenotypes related to Amino Acid Metabolic Disorder:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 ALDH5A1 FAH GAMT HGD MMACHC MTHFR
2 homeostasis/metabolism MP:0005376 9.83 MTHFR MTR MUT PAH PCCA SLC3A1
3 renal/urinary system MP:0005367 9.36 ALDH5A1 FAH GAMT HGD MMACHC MUT

Drugs & Therapeutics for Amino Acid Metabolic Disorder

Drugs for Amino Acid Metabolic Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 360)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved Phase 4 53608-75-6
2
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
3
Glycerol Approved, Investigational Phase 4,Phase 2 56-81-5 753
4
Potassium Citrate Approved, Vet_approved Phase 4
5
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
6
Memantine Approved, Investigational Phase 4,Phase 3 19982-08-2 4054
7
Insulin Aspart Approved Phase 4 116094-23-6 16132418
8
Cysteamine Approved, Investigational Phase 4,Phase 1 60-23-1 6058
9
Dextromethorphan Approved Phase 4,Phase 3,Phase 2 125-71-3 5360696 5362449
10
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2 93-14-1 3516
11
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
12
Chlorzoxazone Approved Phase 4 95-25-0 2733
13
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
14
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
15
Tolbutamide Approved Phase 4 64-77-7 5505
16
Histamine Approved, Investigational Phase 4,Phase 2,Phase 1 75614-87-8, 51-45-6 774
17
Cetirizine Approved Phase 4 83881-51-0 2678
18
Gabapentin Approved, Investigational Phase 4,Phase 2 60142-96-3 3446
19
Ornithine Approved, Nutraceutical Phase 4,Phase 3,Phase 1 70-26-8, 3184-13-2 6262 389
20
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
21
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
22
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
23
Glutamic Acid Approved, Nutraceutical Phase 4,Phase 2,Phase 1 56-86-0 33032
24
Caffeine Approved, Nutraceutical Phase 4 58-08-2 2519
25
gamma-Aminobutyric acid Investigational Phase 4,Phase 2,Phase 1 56-12-2 119
26 gastric inhibitory polypeptide Phase 4
27 Gastrointestinal Agents Phase 4,Phase 2,Phase 1
28 glucagon Phase 4,Phase 2,Phase 1
29 Glucagon-Like Peptide 1 Phase 4,Phase 2,Phase 1
30 Hormones Phase 4,Phase 3,Phase 2,Phase 1
31 Hypoglycemic Agents Phase 4,Phase 2
32 Incretins Phase 4,Phase 2,Phase 1
33 insulin Phase 4,Phase 3,Phase 2,Phase 1
34 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1
35 pancreatin Phase 4
36 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1
37 Dipeptidyl-Peptidase IV Inhibitors Phase 4,Phase 2
38 HIV Protease Inhibitors Phase 4,Phase 2
39 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
41
protease inhibitors Phase 4,Phase 2
42 Sitagliptin Phosphate Phase 4,Phase 2
43 Excitatory Amino Acid Agonists Phase 4,Phase 3
44 Excitatory Amino Acids Phase 4,Phase 3,Phase 2
45 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
46 N-Methylaspartate Phase 4,Phase 3
47 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
48 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
49 Protective Agents Phase 4,Phase 3,Phase 1,Phase 2
50 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 322)

id Name Status NCT ID Phase Drugs
1 Mixed Meal Test in Type 1 Diabetes: Optimization of Artificial Pancreas-Pilot Study Unknown status NCT01800734 Phase 4
2 The Effect Of Dual Treatment With L-Carnitine And Magnesium On Fatty Liver Unknown status NCT01956825 Phase 4
3 Vascular Effects of Sitagliptin in Diabetes Mellitus Unknown status NCT01096277 Phase 4 Sitagliptin;Placebo
4 Therapeutic Efficacy of Oral L-Ornithine-L-Aspartate on Minimal Encephalopathy Unknown status NCT00896831 Phase 4 L-ornithine-L-aspartate;placebo
5 Effect of Preoperative Supplementation in Insulin Resistance Completed NCT00657124 Phase 4
6 A Study on Postmarketing Xuezhikang Capsule for Treating Dyslipidemia Completed NCT02057302 Phase 4 Xuezhikang capsule
7 Effects of Proteins in Patients With Cirrhosis and Prior Hepatic Encephalopathy Completed NCT00955500 Phase 4
8 Effect of Arginine on Microcirculation in Patients With Diabetes Completed NCT00902616 Phase 4
9 Effects of Kuvan on Melatonin Secretion Completed NCT01617070 Phase 4 Kuvan
10 Antioxidant Signature in Adult Patients With Phenylketonuria Completed NCT02212288 Phase 4
11 L-ornithine L-aspartate in Overt Hepatic Encephalopathy Completed NCT01722578 Phase 4 L-ornithine L-aspartate;Placebo
12 Uremic Hyperhomocysteinemia -A Folate Trial for Possible Prevention of Cardiovascular Events Completed NCT00317005 Phase 4 folate treatment
13 Supplemented Very Low Protein Diet and the Progression of Chronic Kidney Disease Completed NCT02031224 Phase 4
14 Arterial pH and Total Body Nitrogen Balances in APD Completed NCT00586131 Phase 4 ammonium chloride or sodium citrate/citric acid;Sodium citrate/citratic acid
15 A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders Completed NCT02246218 Phase 4 RAVICTI
16 The Effects of Potassium Citrate on Bone Metabolism Completed NCT00357331 Phase 4 potassium citrate
17 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4 D-serine;Riluzole;Placebo
18 Memantine and Changes of Biological Markers and Brain PET Imaging in Alzheimer's Disease Completed NCT00800709 Phase 4 Memantine
19 Efficacy of L-Ornithine L-Aspartate in Acute Hepatic Encephalopathy. Completed NCT01041755 Phase 4 L-ornithine-L-aspartate;Lactose
20 Brain Muscle Axis During Treatment of Hepatic Encephalopathy With L-ornithine L-aspartate Completed NCT01847651 Phase 4 LOLA or placebo
21 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4 Cysteamine
22 The Effect of Omega-3 FA on Hypertriglyceridemia in Patients With T2DM(OCEAN) Recruiting NCT03120299 Phase 4 Omega-3 fatty acid;Placebos
23 Evaluation of CYP450 Activities in Diabetic Patients vs. Non-diabetic Subjects Recruiting NCT02291666 Phase 4 CRCHUM-MT cocktail
24 Influence of OCT2 Inhibitor Cetirizine and Type 2 Diabetes on Gabapentin Kinetics Disposition in Patients With Neuropathic Pain Enrolling by invitation NCT03047278 Phase 4 Gabapentin 300 mg;Cetirizine Hydrochloride 10 mg
25 Evaluate the Effects of Dapagliflozin in Patients With Type 2 Diabetes Not yet recruiting NCT03269058 Phase 4 Dapagliflozin;Placebos
26 Effect of Sevelamer on P-cresol Levels in CKD Unknown status NCT02199444 Phase 3 Sevelamer;Placebo
27 L-citrulline Supplementation During Sepsis Unknown status NCT00628381 Phase 3
28 Effects and Safety of Taurine Granule on Blood Pressure in Prehypertensive Completed NCT01816698 Phase 3 Taurine granule;Placebo
29 Dietary Intervention of Stress-Induced Neurovegetative Disorders With a Specific Amino Acid Composition (asn01) Completed NCT01425983 Phase 3
30 Ferrous Sulfate Versus Iron Amino Acid Chelate Completed NCT01412723 Phase 3
31 Prevention of Cardiac and Vascular Events in Patients With NGT/IGT. Completed NCT00408577 Phase 3 L-arginine
32 The Effect of Diet on Chronic Inflammation and Related Disorders Following Spinal Cord Injury Completed NCT02099890 Phase 3
33 Combination Risedronate - Parathyroid Hormone Trial in Male Osteoporosis Completed NCT01611571 Phase 3 Risedronate;Teriparatide;Placebo Teriparatide;placebo Risedronate
34 Vitamin B6 Effects for Women Taking Birth Control Pills Completed NCT01128244 Phase 2, Phase 3
35 Dianeal, Extraneal, Nutrineal (D-E-N) Versus Dianeal Only in Diabetic Continuous Ambulatory Peritoneal Dialysis (CAPD) Patients Completed NCT01219959 Phase 3 Dianeal;Dianeal, Extraneal, Nutrineal
36 A Laser Detection for Bladder Cancer by (Photodynamic) Spectra of Urine Completed NCT02101931 Phase 3 Amino levulinic Acid
37 Open Label Pilot Study of the Effects of Memantine on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
38 Efficacy of L-Ornithine-L-Aspartate in Cirrhotics With Hepatic Encephalopathy Completed NCT00433368 Phase 3 L-Ornithine L-Aspartate
39 Safety and Efficacy of AVP-923 in PBA Patients With ALS or MS Completed NCT00573443 Phase 3 dextromethorphan hydrobromide 20 mg and quinidine sulfate 10 mg;dextromethorphan hydrobromide 30 mg and quinidine sulfate 10 mg;Placebo
40 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Recruiting NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
41 Effects of Branch Chain Amino Acids on Glucose Tolerance in Obese Pre-Diabetic Subjects Recruiting NCT02684565 Phase 3
42 Iron Sucrose Versus Ferrous Bis-glycinate for Treatment of Iron Deficiency Anemia Recruiting NCT03009578 Phase 3 Iron Sucrose Injection;Ferrous Bisglycinate
43 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Active, not recruiting NCT01390077 Phase 2, Phase 3 Nitisinone
44 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3 Carglumic Acid
45 Phenylbutyrate Therapy for Maple Syrup Urine Disease Active, not recruiting NCT01529060 Phase 2, Phase 3 Phenylbutyrate;Placebo powder
46 Suitability of Nitisinone in Alkaptonuria 2 Active, not recruiting NCT01916382 Phase 3 Nitisinone
47 Strategies to Reduce Organic Muscle Atrophy in the Intensive Care Unit Not yet recruiting NCT02773771 Phase 2, Phase 3
48 Trial of Kuvan in Lesch-Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3 sapropterin
49 A Randomized Controlled Trial of Glutamine Dipeptide in Severe Trauma Unknown status NCT01776476 Phase 2 Glutamine
50 The Safety,Preliminary Pharmacodynamics and Pharmacokinetics Study of rExenatide-4 in Chinese Type 2 Diabetes Mellitus Unknown status NCT01342042 Phase 2

Search NIH Clinical Center for Amino Acid Metabolic Disorder

Cochrane evidence based reviews: amino acid metabolism, inborn errors

Genetic Tests for Amino Acid Metabolic Disorder

Genetic tests related to Amino Acid Metabolic Disorder:

id Genetic test Affiliating Genes
1 Disorder of Amino Acid Metabolism 29

Anatomical Context for Amino Acid Metabolic Disorder

MalaCards organs/tissues related to Amino Acid Metabolic Disorder:

39
Testes, Liver, Kidney, Brain, Bone, Pancreas, Colon

Publications for Amino Acid Metabolic Disorder

Articles related to Amino Acid Metabolic Disorder:

id Title Authors Year
1
[The dibasic amino acid metabolic disorders]. ( 1404883 )
1992

Variations for Amino Acid Metabolic Disorder

Expression for Amino Acid Metabolic Disorder

Search GEO for disease gene expression data for Amino Acid Metabolic Disorder.

Pathways for Amino Acid Metabolic Disorder

Pathways related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ALDH5A1 BCKDHB CBS FAH GAMT HGD
2
Show member pathways
12.52 MMAA MMACHC MTHFR MTR MUT PCCA
3
Show member pathways
11.89 CBS MTHFR MTR
4
Show member pathways
11.85 BCKDHB MUT PCCA PCCB
5
Show member pathways
11.83 FAH HGD PAH
6
Show member pathways
11.82 CBS MTHFR MTR MUT PAH PCCA
7 11.68 CBS FAH MUT
8
Show member pathways
11.58 FAH HGD PAH
9
Show member pathways
11.52 MMAA MUT PCCA PCCB
10
Show member pathways
11.19 SLC3A1 SLC7A7 SLC7A9
11 11.13 BCKDHB MUT PCCA PCCB
12 11.08 MUT PCCA PCCB
13
Show member pathways
11.08 MMAA MMACHC MTR MUT PCCA PCCB
14
Show member pathways
11.02 BCKDHB CBS PCCA
15 11.01 SLC7A7 SLC7A9
16 10.9 MMAA MMACHC MTR MUT
17
Show member pathways
10.62 PCCA PCCB
18
Show member pathways
10.46 CBS MTHFR

GO Terms for Amino Acid Metabolic Disorder

Cellular components related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 ALDH5A1 BCKDHB L2HGDH MMAA MMACHC MUT
2 mitochondrial matrix GO:0005759 9.1 ALDH5A1 BCKDHB MMAA MUT PCCA PCCB

Biological processes related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.95 ALDH5A1 BCKDHB CBS FAH MTHFR MUT
2 oxidation-reduction process GO:0055114 9.92 ALDH5A1 BCKDHB CBS HGD L2HGDH MMACHC
3 amino acid transport GO:0006865 9.67 SLC3A1 SLC7A7 SLC7A9
4 cellular amino acid biosynthetic process GO:0008652 9.65 CBS MTR PAH
5 amino acid transmembrane transport GO:0003333 9.58 SLC7A7 SLC7A9
6 biotin metabolic process GO:0006768 9.57 PCCA PCCB
7 creatine metabolic process GO:0006600 9.56 GAMT SLC6A8
8 cellular amino acid metabolic process GO:0006520 9.56 HGD MTHFR SLC3A1 SLC7A7
9 aromatic amino acid family metabolic process GO:0009072 9.55 FAH PAH
10 S-adenosylmethionine metabolic process GO:0046500 9.54 GAMT MTHFR
11 L-phenylalanine catabolic process GO:0006559 9.54 FAH HGD PAH
12 basic amino acid transmembrane transport GO:1990822 9.52 SLC3A1 SLC7A7
13 tyrosine catabolic process GO:0006572 9.51 FAH HGD
14 L-cystine transport GO:0015811 9.46 SLC3A1 SLC7A9
15 cobalamin biosynthetic process GO:0009236 9.43 MMAA MMACHC
16 homocysteine metabolic process GO:0050667 9.33 CBS MTHFR MUT
17 cobalamin metabolic process GO:0009235 9.26 MMAA MMACHC MTR MUT
18 short-chain fatty acid catabolic process GO:0019626 8.92 MMAA MUT PCCA PCCB

Molecular functions related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.7 ALDH5A1 BCKDHB HGD L2HGDH MMACHC MTHFR
2 amino acid transmembrane transporter activity GO:0015171 9.54 SLC3A1 SLC7A7 SLC7A9
3 basic amino acid transmembrane transporter activity GO:0015174 9.4 SLC3A1 SLC7A7
4 L-cystine transmembrane transporter activity GO:0015184 9.32 SLC3A1 SLC7A9
5 propionyl-CoA carboxylase activity GO:0004658 9.26 PCCA PCCB
6 cobalamin binding GO:0031419 9.13 MMACHC MTR MUT
7 modified amino acid binding GO:0072341 8.8 CBS MTHFR MUT

Sources for Amino Acid Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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