MCID: INH020
MIFTS: 53

Inherited Metabolic Disorder

Categories: Metabolic diseases

Aliases & Classifications for Inherited Metabolic Disorder

MalaCards integrated aliases for Inherited Metabolic Disorder:

Name: Inherited Metabolic Disorder 12 15
Inborn Errors of Metabolism 12 15 73
Metabolic Hereditary Disorder 12
Inborn Metabolism Disorder 12
Inborn Error of Metabolism 76
Inborn Metabolic Disorder 76
Metabolism, Inborn Errors 44

Classifications:



External Ids:

Disease Ontology 12 DOID:655
MeSH 44 D008661
NCIt 50 C34816
SNOMED-CT 68 86095007
UMLS 73 C0025521

Summaries for Inherited Metabolic Disorder

Disease Ontology : 12 A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.

MalaCards based summary : Inherited Metabolic Disorder, also known as inborn errors of metabolism, is related to cholesterol ester storage disease and lysosomal storage disease. An important gene associated with Inherited Metabolic Disorder is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Galactose metabolism. The drugs Mesna and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and testes, and related phenotypes are growth/size/body region and behavior/neurological

Wikipedia : 76 Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of... more...

Related Diseases for Inherited Metabolic Disorder

Diseases in the Acquired Metabolic Disease family:

Inherited Metabolic Disorder

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

(show top 50) (show all 253)
# Related Disease Score Top Affiliating Genes
1 cholesterol ester storage disease 32.1 APOB COG2 SERPINA1
2 lysosomal storage disease 31.7 CLN3 GAA GBA GLA IDUA
3 lipid storage disease 31.6 CLN3 ENSG00000261832 GBA GBA3 GLA INS
4 porphyria 31.6 FECH HFE TF
5 lipid metabolism disorder 31.6 APOB COG2 INS
6 metal metabolism disorder 31.6 ATP7B HAMP HFE TF
7 sphingolipidosis 30.4 GBA GBA3 GLA
8 porphyria cutanea tarda 30.3 FECH HAMP HFE TF
9 liver disease 29.9 HFE INS SERPINA1 TF
10 steroid inherited metabolic disorder 12.3
11 aminoacylase 1 deficiency 11.7
12 megaloblastic anemia 11.7
13 pentosuria 11.7
14 beta-ureidopropionase deficiency 11.6
15 alkaptonuria 11.5
16 argininosuccinic aciduria 11.4
17 galactokinase deficiency 11.4
18 glutathionuria 11.4
19 congenital disorder of glycosylation, type in 11.4
20 megaloblastic anemia due to dihydrofolate reductase deficiency 11.4
21 3-methylglutaconic aciduria, type i 11.4
22 intrinsic factor deficiency 11.4
23 megaloblastic anemia 1 11.4
24 congenital intrinsic factor deficiency 11.4
25 inborn amino acid metabolism disorder 11.4
26 homocystinuria-megaloblastic anemia, cble complementation type 11.3
27 methionine adenosyltransferase i/iii deficiency 11.3
28 homocystinuria-megaloblastic anemia, cblg complementation type 11.3
29 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 11.3
30 carbonic anhydrase va deficiency, hyperammonemia due to 11.3
31 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 11.3
32 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 11.3
33 adenylosuccinase deficiency 11.1
34 hawkinsinuria 11.1
35 acyl-coa dehydrogenase, short-chain, deficiency of 11.1
36 argininemia 11.1
37 d-glyceric aciduria 11.1
38 glycogen storage disease iii 11.1
39 glycogen storage disease iv 11.1
40 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.1
41 hypophosphatasia, infantile 11.1
42 hypophosphatasia, childhood 11.1
43 3-hydroxyisobutyryl-coa hydrolase deficiency 11.1
44 5-oxoprolinase deficiency 11.1
45 sarcosinemia 11.1
46 sialuria 11.1
47 sudden infant death syndrome 11.1
48 multiple sulfatase deficiency 11.1
49 thyroid dyshormonogenesis 1 11.1
50 thyroid dyshormonogenesis 2a 11.1

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



Diseases related to Inherited Metabolic Disorder

Symptoms & Phenotypes for Inherited Metabolic Disorder

MGI Mouse Phenotypes related to Inherited Metabolic Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 APOB ATP7B COG2 FECH GAA GBA
2 behavior/neurological MP:0005386 10.02 ATP7B CLN3 FECH GAA GBA GLA
3 homeostasis/metabolism MP:0005376 10 APOB ATP7B CLN3 COG2 FECH GAA
4 liver/biliary system MP:0005370 9.65 APOB ATP7B CLN3 FECH GBA GLA
5 mortality/aging MP:0010768 9.4 APOB ATP7B CLN3 FECH GBA GLA

Drugs & Therapeutics for Inherited Metabolic Disorder

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

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mesna Approved, Investigational Phase 2 3375-50-6 598
2
Mycophenolic acid Approved Phase 2 24280-93-1 446541
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Cyclophosphamide Approved, Investigational Phase 2,Phase 1 6055-19-2, 50-18-0 2907
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Busulfan Approved, Investigational Phase 2,Phase 1,Not Applicable 55-98-1 2478
7
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
8 tannic acid Approved Phase 2
9
Ethanol Approved Phase 2 64-17-5 702
10
Fomepizole Approved, Vet_approved Phase 2 7554-65-6 3406
11
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
12
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
13
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
14
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
15
rituximab Approved Phase 2 174722-31-7 10201696
16
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
17
Melphalan Approved Phase 2 148-82-3 4053 460612
18
Hydroxyurea Approved Phase 2 127-07-1 3657
19
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
20 Tocotrienol Investigational Phase 2 6829-55-6
21 Anti-Bacterial Agents Phase 2
22 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
23 Anti-Infective Agents Phase 2
24 Immunosuppressive Agents Phase 2,Not Applicable
25 Immunologic Factors Phase 2,Not Applicable
26 Alkylating Agents Phase 2,Not Applicable
27 Antibiotics, Antitubercular Phase 2
28 Antitubercular Agents Phase 2
29 Cyclosporins Phase 2
30 Antifungal Agents Phase 2
31 Dermatologic Agents Phase 2
32 Antirheumatic Agents Phase 2
33 Calcineurin Inhibitors Phase 2
34 Protective Agents Phase 2
35 Antidotes Phase 2
36 Central Nervous System Depressants Phase 2
37 Anti-Infective Agents, Local Phase 2
38 Antimetabolites Phase 2,Not Applicable
39 N-monoacetylcystine Phase 2
40 Tocopherols Phase 2
41 Alpha-lipoic Acid Phase 2
42 Vitamins Phase 2,Not Applicable
43 Thioctic Acid Phase 2
44 Antilymphocyte Serum Phase 2
45 Tocotrienols Phase 2
46 Antimetabolites, Antineoplastic Phase 2,Not Applicable
47 Pharmaceutical Solutions Phase 1, Phase 2
48 Thymoglobulin Phase 2
49 Nucleic Acid Synthesis Inhibitors Phase 2
50
Dinoprostone Approved Phase 1 363-24-6 5280360

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
2 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
3 Phase IIa Study of Fomepizole for Acetaldehyde Toxicity After Ethanol Exposure in Subjects With Altered Ethanol Metabolism Completed NCT00661141 Phase 2 Antizol;Placebo
4 Alpha-Galactosidase A Replacement Therapy for Fabry Disease Completed NCT00048906 Phase 2 DRX005B
5 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
6 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
7 Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria Recruiting NCT03516487 Phase 1, Phase 2 SYNB1618;Placebo
8 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Recruiting NCT03367546 Phase 2
9 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
10 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
11 Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD) Withdrawn NCT02715505 Phase 1, Phase 2 Umbilical cord blood transplantation with HSC835
12 Evaluation of the Safety and Efficacy of TXA127 (Angiotensin 1-7) to Enhance Engraftment in Pediatric Patients Undergoing Single or Double Umbilical Cord Blood Transplantation Withdrawn NCT01554254 Phase 2 TXA127
13 Hepatocyte Transplantation in Liver Failure Withdrawn NCT00805610 Phase 1, Phase 2
14 A Trial of a Single ProHema-CB Product Transplant in Pediatric Patients With Inherited Metabolic Disorders Terminated NCT02354443 Phase 1
15 Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain Unknown status NCT02450604 Not Applicable
16 The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Not Applicable Bezafibrate
17 Data Collection in Women With Fabry Disease Completed NCT00030134
18 Registry of Fabry Disease - A Multicenter Observational Study Completed NCT00055016
19 Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity Completed NCT00106912
20 Glycosylation in Patients With Galactosaemia Completed NCT02218632 Not Applicable
21 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315
22 Natural History Study of Patients With Hypophosphatasia (HPP) Recruiting NCT02237625
23 Clinical and Laboratory Study of Methylmalonic Acidemia Recruiting NCT00078078
24 Inherited Diseases, Caregiving, and Social Networks Recruiting NCT01498263
25 Second or Greater Allogeneic Hematopoietic Stem Cell Transplant Using Reduced Intensity Conditioning (RIC) Recruiting NCT01666080 Not Applicable Busulfan;Fludarabine;Keppra
26 BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study Available NCT03639844 rimiducid
27 Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia Enrolling by invitation NCT03167697 Not Applicable
28 Compliance, Tolerance and Acceptability of a Tablet Protein Substitute for the Dietary Management of Phenylketonuria Not yet recruiting NCT03333720 Not Applicable
29 Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia Not yet recruiting NCT03418389
30 Effects of Synergy on Nutrient Intake and Acceptability in Phenylketonuria (PKU) Not yet recruiting NCT03777826 Not Applicable
31 Single Patient Expanded Access Protocol: Metabolic Boost No longer available NCT02021266
32 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Inherited Metabolic Disorder

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: metabolism, inborn errors

Genetic Tests for Inherited Metabolic Disorder

Anatomical Context for Inherited Metabolic Disorder

MalaCards organs/tissues related to Inherited Metabolic Disorder:

41
Liver, Bone, Testes, Bone Marrow, Brain, Heart, Thyroid

Publications for Inherited Metabolic Disorder

Articles related to Inherited Metabolic Disorder:

(show top 50) (show all 821)
# Title Authors Year
1
Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders. ( 29502919 )
2018
2
Valproate-induced hyperammonemia - uncovering an underlying inherited metabolic disorder: a case report. ( 29769109 )
2018
3
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria. ( 30316064 )
2018
4
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review. ( 30166758 )
2018
5
Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department. ( 29988750 )
2018
6
Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism. ( 30193751 )
2018
7
Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis. ( 29502912 )
2018
8
Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism. ( 29497930 )
2018
9
Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System. ( 29502916 )
2018
10
Contemporary scope of inborn errors of metabolism involving epilepsy or seizures. ( 30006695 )
2018
11
Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders. ( 29502914 )
2018
12
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population. ( 29731766 )
2018
13
Status of Newborn Screening and Inborn Errors of Metabolism in India. ( 29736696 )
2018
14
A targeted metabolomics approach for clinical diagnosis of inborn errors of metabolism. ( 29801603 )
2018
15
The phenotype of adult versus pediatric patients with inborn errors of metabolism. ( 29876767 )
2018
16
A proposed nosology of inborn errors of metabolism. ( 29884839 )
2018
17
Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism. ( 29888426 )
2018
18
Electron Microscopy Can Still Have a Role in the Diagnosis of Selected Inborn Errors of Metabolism. ( 29888625 )
2018
19
The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong. ( 29888706 )
2018
20
Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy. ( 29899766 )
2018
21
An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency. ( 29956047 )
2018
22
Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism. ( 29980968 )
2018
23
A gray area for reimbursement: medical foods for non-inborn errors of metabolism. ( 30020739 )
2018
24
Approach to the interpretation of unexpected laboratory results arising in the care of patients with inborn errors of metabolism (IEM). ( 30032338 )
2018
25
Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates. ( 30036870 )
2018
26
Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center. ( 30115094 )
2018
27
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. ( 30197275 )
2018
28
Impact of pregnancy on inborn errors of metabolism. ( 30198059 )
2018
29
Bone health in patients with inborn errors of metabolism. ( 30209646 )
2018
30
The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay? ( 30235399 )
2018
31
The impact of consanguinity on the frequency of inborn errors of metabolism. ( 30269750 )
2018
32
Late Mortality after Allogeneic Blood or Marrow Transplantation for Inborn Errors of Metabolism: A Report from the Blood or Marrow Transplant Survivor Study-2 (BMTSS-2). ( 30292746 )
2018
33
Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism. ( 30306077 )
2018
34
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. ( 30311390 )
2018
35
Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. ( 30479748 )
2018
36
Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism. ( 30485556 )
2018
37
Synaptic metabolism and brain circuitries in inborn errors of metabolism. ( 30488280 )
2018
38
Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations. ( 30556376 )
2018
39
Movement Disorders in Treatable Inborn Errors of Metabolism. ( 30557456 )
2018
40
Inborn errors of metabolism associated with psychosis: literature review and case-control study using exome data from 5090 adult individuals. ( 28210873 )
2018
41
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism. ( 28726811 )
2018
42
Fibroblast growth-factor-21 is currently a weak biomarker for identifying mitochondrial and non-mitochondrial inborn errors of metabolism. ( 29124013 )
2018
43
Do inborn errors of metabolism confer or impede the risk of diabetes? ( 29230604 )
2018
44
Flux analysis of inborn errors of metabolism. ( 29318410 )
2018
45
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis. ( 29340838 )
2018
46
"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing. ( 29372369 )
2018
47
Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders. ( 29379558 )
2018
48
The impact of consanguinity on the frequency of inborn errors of metabolism. ( 29387562 )
2018
49
Inborn errors of metabolism and the human interactome: a systems medicine approach. ( 29404805 )
2018
50
Testing for Inborn Errors of Metabolism. ( 29432236 )
2018

Variations for Inherited Metabolic Disorder

Expression for Inherited Metabolic Disorder

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

Pathways for Inherited Metabolic Disorder

GO Terms for Inherited Metabolic Disorder

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

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.83 ATP7B CLN3 COG2 INS SERPINA1
2 endoplasmic reticulum lumen GO:0005788 9.71 APOB INS SERPINA1 TF
3 lysosomal membrane GO:0005765 9.67 CLN3 ENSG00000261832 GAA GBA
4 late endosome GO:0005770 9.65 ATP7B CLN3 TF
5 early endosome GO:0005769 9.56 APOB CLN3 HFE TF
6 endosome lumen GO:0031904 9.46 APOB INS
7 lysosome GO:0005764 9.35 CLN3 GAA GBA GLA IDUA
8 basal part of cell GO:0045178 9.32 HFE TF
9 HFE-transferrin receptor complex GO:1990712 9.16 HFE TF
10 lysosomal lumen GO:0043202 9.02 APOB GAA GBA GLA IDUA

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.8 APOB INS SERPINA1 TF
2 cellular response to tumor necrosis factor GO:0071356 9.76 APOB GBA HAMP
3 membrane organization GO:0061024 9.74 APOB CLN3 TF
4 steroid metabolic process GO:0008202 9.73 APOB CYP21A2 UGT1A1
5 response to ethanol GO:0045471 9.72 FECH HAMP UGT1A1
6 negative regulation of catalytic activity GO:0043086 9.65 CLN3 TF UGT1A1
7 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 HFE TF
8 cellular iron ion homeostasis GO:0006879 9.58 HAMP HFE TF
9 carbohydrate metabolic process GO:0005975 9.55 GAA GBA3 GLA IDUA INS
10 response to iron ion GO:0010039 9.54 HAMP HFE
11 multicellular organismal iron ion homeostasis GO:0060586 9.52 HAMP HFE
12 positive regulation of peptide hormone secretion GO:0090277 9.51 HFE INS
13 cellular response to iron ion GO:0071281 9.46 HFE TF
14 glycoside catabolic process GO:0016139 9.43 GBA3 GLA
15 glycosylceramide catabolic process GO:0046477 9.37 GBA3 GLA
16 metabolic process GO:0008152 9.35 GAA GBA GLA IDUA MTHFR
17 regulation of iron ion import GO:1900390 9.32 HFE TF
18 response to iron ion starvation GO:1990641 9.26 HAMP HFE
19 acute-phase response GO:0006953 9.02 HAMP HFE INS SERPINA1 UGT1A1

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

# Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 9.32 FECH TF
2 transferrin receptor binding GO:1990459 9.26 HFE TF
3 glucosylceramidase activity GO:0004348 9.16 GBA GBA3
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.13 GAA GLA IDUA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 GAA GBA GLA IDUA

Sources for Inherited Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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