Carbohydrate Metabolic Disorder

Categories: Metabolic diseases

Aliases & Classifications for Carbohydrate Metabolic Disorder

MalaCards integrated aliases for Carbohydrate Metabolic Disorder:

Name: Carbohydrate Metabolic Disorder 12 14
Carbohydrate Metabolism, Inborn Errors 41 69
Disorder of Carbohydrate Metabolism 28 69
Disorder of Carbohydrate Transport and Metabolism 12
Inborn Errors of Carbohydrate Metabolism 12
Inborn Carbohydrate Metabolism Disorder 12
Carbohydrate Metabolism Disorders 40
Carbohydrate Metabolism Disorder 51


External Ids:

Disease Ontology 12 DOID:2978
ICD9CM 34 271.8
MeSH 41 D002239
ICD10 32 E74 E74.8

Summaries for Carbohydrate Metabolic Disorder

MedlinePlus : 40 Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break 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 tissues. If you have a metabolic disorder, something goes wrong with this process. Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal. These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder. Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.

MalaCards based summary : Carbohydrate Metabolic Disorder, also known as carbohydrate metabolism, inborn errors, is related to fructose-1,6-bisphosphatase deficiency and galactosemia. An important gene associated with Carbohydrate Metabolic Disorder is INS (Insulin), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Cyclophosphamide and Primaquine have been mentioned in the context of this disorder. Affiliated tissues include testes and thyroid, and related phenotypes are Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation and homeostasis/metabolism

Disease Ontology : 12 An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.

Related Diseases for Carbohydrate Metabolic Disorder

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 fructose-1,6-bisphosphatase deficiency 32.1 AGL ALDOB G6PC
2 galactosemia 31.9 ALDOB G6PC GALK1 GALT
3 galactose epimerase deficiency 30.4 GALK1 GALT
4 galactokinase deficiency 30.3 GALK1 GALT
5 primary hyperoxaluria 29.5 AGXT GRHPR HOGA1
6 pyruvate dehydrogenase e1-alpha deficiency 11.2
7 pentosuria 11.1
8 congenital disorder of glycosylation, type in 10.9
9 congenital disorder of deglycosylation 10.9
10 hyperinsulinemic hypoglycemia 10.9
11 glucosephosphate dehydrogenase deficiency 10.9
12 proximal spinal muscular atrophy 10.9
13 mucopolysaccharidosis, type ii 10.9
14 epimerase deficiency galactosemia 10.4 GALK1 GALT
15 glycogen storage disease vi 10.4 G6PC PYGM
16 lactose intolerance 10.2 ALDOB LCT
17 glycogen storage disease vii 10.2 GBE1 PYGM
18 factitious disorder 10.2 ABCC8 INS
19 hyperinsulinemic hypoglycemia, familial, 2 10.2 ABCC8 INS
20 renal glucosuria 10.2
21 glycogen storage disease ii 10.2 GAA PYGM
22 biotin deficiency 10.1 BTD HLCS
23 biotinidase deficiency 10.1 BTD HLCS
24 fanconi-bickel syndrome 10.1 ABCC8 G6PC INS
25 acute insulin response 10.1 ABCC8 INS PYGM
26 endocrine pancreas disease 10.1 ABCC8 G6PC INS
27 multiple carboxylase deficiency 10.1 BTD HLCS
28 monocarboxylate transporter 1 deficiency 10.0 HLCS INS
29 glucose metabolism disease 10.0 ABCC8 G6PC INS
30 glycogen storage disease v 10.0 GAA PYGM
31 monogenic diabetes 10.0 ABCC8 INS
32 hyperglycemia 10.0 ABCC8 G6PC INS
33 pyruvate carboxylase deficiency 10.0
34 holocarboxylase synthetase deficiency 10.0 AGL BTD HLCS
35 glycogen storage disease iii 10.0 AGL G6PC GAA GBE1
36 glycogen storage disease iv 10.0 AGL G6PC GAA GBE1
37 fructose intolerance, hereditary 9.9
38 fructosuria, essential 9.9
39 pyruvate dehydrogenase e2 deficiency 9.9
40 pyruvate dehydrogenase e3-binding protein deficiency 9.9
41 dihydrolipoamide dehydrogenase deficiency 9.9
42 pyruvate dehydrogenase phosphatase deficiency 9.9
43 pyruvate dehydrogenase e1-beta deficiency 9.9
44 mitochondrial pyruvate carrier deficiency 9.9
45 pepck 1 deficiency 9.9
46 glycogen storage disease due to lactate dehydrogenase deficiency 9.9
47 generalized galactose epimerase deficiency 9.9
48 erythrocyte galactose epimerase deficiency 9.9
49 hypoglycemia 9.8 ABCC8 AGL G6PC INS
50 mycobacterium tuberculosis 1 9.7

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

Diseases related to Carbohydrate Metabolic Disorder

Symptoms & Phenotypes for Carbohydrate Metabolic Disorder

GenomeRNAi Phenotypes related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation GR00203-A 8.8 AGL ALDOB GRHPR

MGI Mouse Phenotypes related to Carbohydrate Metabolic Disorder:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 GALT GBE1 GRHPR HOGA1 INS PMM2
2 liver/biliary system MP:0005370 9.7 AGL ALDOB G6PC GBE1 HOGA1 INS
3 muscle MP:0005369 9.5 PYGM AGL BTD GAA GBE1 INS
4 renal/urinary system MP:0005367 9.23 AGXT BTD G6PC GRHPR HOGA1 INS

Drugs & Therapeutics for Carbohydrate Metabolic Disorder

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

(show top 50) (show all 200)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3 50-18-0, 6055-19-2 2907
Primaquine Approved Phase 4,Phase 1,Not Applicable 90-34-6 4908
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
rituximab Approved Phase 4,Phase 2,Phase 1 174722-31-7 10201696
Dapsone Approved, Investigational Phase 4 80-08-0 2955
chloroquine Approved, Investigational, Vet_approved Phase 4,Phase 1 54-05-7 2719
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Not Applicable 59-30-3 6037
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
10 Antioxidants Phase 4,Not Applicable
Bilirubin Phase 4 635-65-4 5280352
12 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable
14 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
15 Caseins Phase 4
16 Chelating Agents Phase 4
17 Anti-Infective Agents Phase 4,Phase 1,Phase 2,Not Applicable
18 Antimalarials Phase 4,Phase 1,Not Applicable
19 Antiparasitic Agents Phase 4,Phase 1,Not Applicable
20 Antiprotozoal Agents Phase 4,Phase 1,Not Applicable
21 Artemisinine Phase 4
22 Artemisinins Phase 4
Dihydroartemisinin Phase 4 71939-50-9 6918483
Piperaquine Phase 4 4085-31-8 5079497
25 Adrenergic Agents Phase 4,Phase 1,Phase 2
26 Adrenergic Agonists Phase 4,Phase 1,Phase 2
27 Adrenergic beta-2 Receptor Agonists Phase 4,Phase 1,Phase 2
28 Adrenergic beta-Agonists Phase 4,Phase 1,Phase 2
29 Albuterol Phase 4,Phase 1,Phase 2
30 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
31 Autonomic Agents Phase 4,Phase 1,Phase 2
32 Bronchodilator Agents Phase 4,Phase 1,Phase 2
33 Neurotransmitter Agents Phase 4,Phase 2,Phase 1,Early Phase 1
34 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2
35 Respiratory System Agents Phase 4,Phase 1,Phase 2
36 Tocolytic Agents Phase 4,Phase 1,Phase 2
37 Antibodies Phase 4,Phase 1,Phase 2
38 Immunoglobulins Phase 4,Phase 1,Phase 2
39 Antimetabolites Phase 4,Phase 1,Phase 2
40 Antimetabolites, Antineoplastic Phase 4,Phase 1,Phase 2
41 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
42 Dermatologic Agents Phase 4,Phase 1,Phase 2
43 Folic Acid Antagonists Phase 4
44 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2
45 Vitamin B Complex Phase 4,Phase 2,Not Applicable
46 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
47 Alkylating Agents Phase 4,Phase 2,Phase 3
48 Analgesics Phase 4,Phase 1
49 Analgesics, Non-Narcotic Phase 4,Phase 1
50 Anthelmintics Phase 4,Phase 1

Interventional clinical trials:

(show top 50) (show all 382)

# Name Status NCT ID Phase Drugs
1 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
2 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
3 Incidence of Lactose Intolerance Among Self-reported Lactose Intolerant People Completed NCT02878876 Phase 4
4 Evaluation of LacTEST for the Diagnosis of Hypolactasia in Adults and Elderly Patients Presenting With Clinical Symptoms of Lactose Intolerance Completed NCT02636413 Phase 4 gaxilose
5 Effects Comparison of A1 and A2 Milk on Gastrointestinal Physiology, Symptoms and Cognitive Behavior Completed NCT02406469 Phase 4
6 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
7 Safety and Tolerability of Low Dose Primaquine Completed NCT02434952 Phase 4 Dihydroartemisinin piperaquine (DHA PP);Primaquine
8 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4 Salbutamol
9 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4 Naglazyme
10 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
11 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients Completed NCT00144768 Phase 4 laronidase
12 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
13 An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease Completed NCT00701129 Phase 4 Methotrexate;Rituximab
14 High Dose or High Dose Frequency Study of Alglucosidase Alfa Completed NCT00483379 Phase 4
15 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
16 Phase IV Study to Gather More Information About the Safety of ACZONE Gel, 5% in Treating Subjects With Acne Who Have G6PD Deficiency Completed NCT00243542 Phase 4 ACZONE Gel, 5%;Vehicle
17 A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Recruiting NCT00418821 Phase 4
18 Immune Modulation Therapy for Pompe Disease Recruiting NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
19 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
20 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
21 Immune Tolerance Induction Study Active, not recruiting NCT00701701 Phase 4
22 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
23 Assessing a Risk Model for G6PD Deficiency Not yet recruiting NCT03337152 Phase 4 primaquine;chloroquine + primaquine
24 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
25 A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease Terminated NCT01597596 Phase 4
26 A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease Terminated NCT01526785 Phase 4 Alglucosidase alfa
27 A Trial to Evaluate the Frequency of Genetic Sucrase-Isomaltase Deficiency Genotypes, and the Efficacy and Safety of Sucraid® (Sacrosidase) Oral Solution in Subjects With Chronic Diarrhea and Sucrase Deficiency Withdrawn NCT02784067 Phase 4 Sucraid;Placebo
28 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
29 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
30 Diet Challenge in G6PD Deficient Egyptian Children: A One- Year Prospective Single Center Study With Genotype - Phenotype Correlation Unknown status NCT02498340 Phase 2, Phase 3
31 Evaluation of Long-term Efficacy of Treatment With Lamazym Completed NCT02478840 Phase 3 Lamazym
32 A Placebo-Controlled Phase 3 Trial of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis Completed NCT01681953 Phase 3 Lamazym;Placebo
33 A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT02230566 Phase 3 UX003
34 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
35 Study of rhASB in Patients With Mucopolysaccharidosis VI Completed NCT00104234 Phase 3 N-acetylgalactosamine 4-sulfatase;Placebo/rhASB
36 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
37 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
38 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
39 Efficacy, Safety, and Tolerability Study of RP-G28 in Subjects With Lactose Intolerance Completed NCT02673749 Phase 2, Phase 3 RP-G28
40 Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I Completed NCT00912925 Phase 3
41 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
42 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3 Placebo
43 Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00258011 Phase 3
44 Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00146770 Phase 3
45 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Completed NCT02055118 Phase 2, Phase 3
46 Study to Evaluate the Efficacy and Safety of OxabactTM on Reduction of Urinary Oxalate in Primary Hyperoxaluria Patients Completed NCT00638703 Phase 2, Phase 3 Placebo
47 A Non-inferiority, Multicenter and Randomized, Multiple-Dose Study About a Treatment to Hypolactasia Completed NCT01145586 Phase 3 Lactase Oral Tablets
48 A Non-inferiority, Multicenter and Randomized, Single-Dose Study About a Treatment to Hypolactasia (LAILAI) Completed NCT01145339 Phase 3 Lactase
49 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
50 Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Completed NCT00268944 Phase 3

Search NIH Clinical Center for Carbohydrate Metabolic Disorder

Cochrane evidence based reviews: carbohydrate metabolism, inborn errors

Genetic Tests for Carbohydrate Metabolic Disorder

Genetic tests related to Carbohydrate Metabolic Disorder:

# Genetic test Affiliating Genes
1 Disorder of Carbohydrate Metabolism 28

Anatomical Context for Carbohydrate Metabolic Disorder

MalaCards organs/tissues related to Carbohydrate Metabolic Disorder:

Testes, Thyroid

Publications for Carbohydrate Metabolic Disorder

Articles related to Carbohydrate Metabolic Disorder:

# Title Authors Year
Protective effects of vescalagin from pink wax apple [Syzygium samarangense (Blume) Merrill and Perry] fruit against methylglyoxal-induced inflammation and carbohydrate metabolic disorder in rats. ( 23819528 )
Hashimoto's thyroiditis and carbohydrate metabolism disorders in patients hospitalised in the Department of Endocrinology and Diabetology of Ludwik Rydygier Collegium Medicum in Bydgoszcz between 2001 and 2010. ( 22378092 )
[Clinicogenetic aspects of carbohydrate metabolism disorders and efficacy of their correction with moxonidine and metformine in patients with arterial hypertension]. ( 15759454 )
[Diagnostic criteria of carbohydrate metabolism disorders in pulmonary tuberculosis complicated by diabetes mellitus in patients with various haptoglobin phenotypes]. ( 11338533 )
[Carbohydrate metabolic disorder in women with a neuroendocrine syndrome]. ( 8017575 )
[Glycosylated proteins and the rheological properties of the erythrocytes in carbohydrate metabolic disorders]. ( 1803588 )
Autotransplantation of pancreatic tail tissue to prevent carbohydrate metabolic disorder following total pancreatectomy. A case report with preliminary experience. ( 6816515 )

Variations for Carbohydrate Metabolic Disorder

Expression for Carbohydrate Metabolic Disorder

Search GEO for disease gene expression data for Carbohydrate Metabolic Disorder.

Pathways for Carbohydrate Metabolic Disorder

Pathways related to Carbohydrate Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
5 11.68 G6PC PHKA2 PYGM
Show member pathways
Show member pathways
Show member pathways
10 11.18 AGL GBE1 PHKA2 PYGM
12 9.91 BTD HLCS

GO Terms for Carbohydrate Metabolic Disorder

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.28 ALDOB BTD GAA GALK1 GBE1 GRHPR

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.86 AGL GAA GALK1 GRHPR HLCS HOGA1
2 carbohydrate metabolic process GO:0005975 9.76 GAA GALK1 GALT GBE1 INS LCT
3 glycogen biosynthetic process GO:0005978 9.51 AGL GBE1
4 cellular nitrogen compound metabolic process GO:0034641 9.49 AGXT GRHPR
5 biotin metabolic process GO:0006768 9.48 BTD HLCS
6 galactose metabolic process GO:0006012 9.46 GALK1 GALT
7 galactose catabolic process GO:0019388 9.43 GALK1 GALT
8 glyoxylate metabolic process GO:0046487 9.4 AGXT HOGA1
9 pyruvate biosynthetic process GO:0042866 9.37 AGXT HOGA1
10 glycogen catabolic process GO:0005980 9.35 AGL G6PC GAA PHKA2 PYGM
11 glyoxylate catabolic process GO:0009436 9.32 AGXT HOGA1
12 glycogen metabolic process GO:0005977 9.1 AGL G6PC GAA GBE1 PHKA2 PYGM

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.46 GAA HLCS LCT PYGM
2 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.26 G6PC GALK1
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 AGL GAA LCT
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.8 GAA GBE1 LCT

Sources for Carbohydrate Metabolic Disorder

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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