MCID: INH020
MIFTS: 48

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 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 363205007 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 porphyria and lipid metabolism disorder. An important gene associated with Inherited Metabolic Disorder is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Galactose metabolism. The drugs alemtuzumab and Mesna have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, 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 96)
# Related Disease Score Top Affiliating Genes
1 porphyria 32.3 FECH HFE TF
2 lipid metabolism disorder 32.3 APOB COG2 INS
3 metal metabolism disorder 32.2 ATP7B HAMP HFE TF
4 lysosomal storage disease 32.1 CLN3 GAA GBA GLA IDUA
5 lipid storage disease 32.0 CLN3 ENSG00000261832 GBA GBA3 GLA INS
6 liver disease 30.6 FECH HFE INS SERPINA1 TF
7 steroid inherited metabolic disorder 12.2
8 aminoacylase 1 deficiency 11.6
9 megaloblastic anemia 11.6
10 pentosuria 11.5
11 iron overload in africa 11.1 HFE TF
12 prediabetes syndrome 11.0 APOB COG2 INS
13 hyperferritinemia with or without cataract 11.0 HFE TF
14 cholesterol ester storage disease 11.0 APOB COG2 SERPINA1
15 siderosis 11.0 HFE SERPINA1 TF
16 sphingolipidosis 11.0 GBA GBA3 GLA
17 hemosiderosis 11.0 HAMP HFE TF
18 hemochromatosis type 2 11.0 HAMP HFE
19 coronary heart disease 1 11.0 APOB COG2 INS
20 atransferrinemia 11.0 HAMP HFE TF
21 wilson disease 11.0 ATP7B HFE TF
22 gaucher's disease 10.9
23 overnutrition 10.9 APOB COG2 INS
24 iron deficiency anemia 10.9 HAMP HFE TF
25 scheie syndrome 10.9 GAA GLA IDUA
26 gallbladder disease 10.9 APOB INS UGT1A1
27 carotid artery dissection 10.9 GAA MTHFR SERPINA1
28 nutritional deficiency disease 10.9 HAMP MTHFR TF
29 glucose metabolism disease 10.9 APOB COG2 INS
30 familial hyperlipidemia 10.9 APOB COG2 GBA INS
31 acquired metabolic disease 10.9 APOB COG2 INS
32 porphyria cutanea tarda 10.9 FECH HAMP HFE TF
33 arteries, anomalies of 10.9 APOB COG2 INS MTHFR
34 hemoglobinopathy 10.9 HAMP TF UGT1A1
35 factitious disorder 10.8 INS TF
36 beta-thalassemia 10.8 HAMP HFE TF UGT1A1
37 thalassemia 10.8 HFE TF UGT1A1
38 aceruloplasminemia 10.8 HAMP HFE TF
39 arteriosclerosis 10.8 APOB COG2 INS
40 hemochromatosis, type 1 10.7 ATP7B HAMP HFE SERPINA1 TF
41 coronary artery anomaly 10.7 APOB COG2 INS MTHFR
42 cerebrovascular disease 10.7 APOB INS MTHFR
43 lipoid congenital adrenal hyperplasia 10.6
44 congenital disorder of glycosylation, type ia 10.6
45 cerebellar hypoplasia 10.6
46 dopamine beta-hydroxylase deficiency, congenital 10.6
47 farber lipogranulomatosis 10.6
48 fructose-1,6-bisphosphatase deficiency 10.6
49 multiple acyl-coa dehydrogenase deficiency 10.6
50 n-acetylglutamate synthase deficiency 10.6

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 TF GLA APOB ATP7B HFE IDUA
2 behavior/neurological MP:0005386 10.02 GLA ATP7B HFE CLN3 IDUA INS
3 homeostasis/metabolism MP:0005376 10 ATP7B HFE CLN3 IDUA COG2 INS
4 liver/biliary system MP:0005370 9.61 ATP7B HFE CLN3 IDUA INS FECH
5 mortality/aging MP:0010768 9.4 TF GLA APOB ATP7B HFE CLN3

Drugs & Therapeutics for Inherited Metabolic Disorder

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Mesna Approved, Investigational Phase 2 3375-50-6 598
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Cyclophosphamide Approved, Investigational Phase 2,Phase 1 50-18-0, 6055-19-2 2907
5
Busulfan Approved, Investigational Phase 2,Phase 1,Not Applicable 55-98-1 2478
6
Mycophenolic acid Approved Phase 2 24280-93-1 446541
7
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
8
Ethanol Approved Phase 2 64-17-5 702
9
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
10
Fomepizole Approved, Vet_approved Phase 2 7554-65-6 3406
11
rituximab Approved Phase 2 174722-31-7 10201696
12
Fludarabine Approved Phase 2,Not Applicable 21679-14-1, 75607-67-9 30751
13
Hydroxyurea Approved Phase 2 127-07-1 3657
14
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
15
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
16
Melphalan Approved Phase 2 148-82-3 4053 460612
17
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
18 tannic acid Approved, Nutraceutical Phase 2
19
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
20
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
21 Alkylating Agents Phase 2,Not Applicable
22 Central Nervous System Depressants Phase 2
23 Cyclosporins Phase 2
24 Dermatologic Agents Phase 2
25 Anti-Bacterial Agents Phase 2
26 Antibiotics, Antitubercular Phase 2
27 Immunosuppressive Agents Phase 2,Not Applicable
28 Antidotes Phase 2
29 Anti-Infective Agents Phase 2
30 Antifungal Agents Phase 2
31 Anti-Infective Agents, Local Phase 2
32 Protective Agents Phase 2
33 Antitubercular Agents Phase 2
34 Antirheumatic Agents Phase 2
35 Antimetabolites Phase 2,Not Applicable
36 Calcineurin Inhibitors Phase 2
37 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
38 Thioctic Acid Phase 2
39 Tocopherols Phase 2
40 Tocotrienols Phase 2
41 N-monoacetylcystine Phase 2
42 Nucleic Acid Synthesis Inhibitors Phase 2
43 Vitamins Phase 2,Not Applicable
44 Antilymphocyte Serum Phase 2
45 Antimetabolites, Antineoplastic Phase 2,Not Applicable
46 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
47 Alpha-lipoic Acid Nutraceutical Phase 2
48
Dinoprostone Approved Phase 1 363-24-6 5280360
49
Bezafibrate Approved, Investigational Not Applicable 41859-67-0 39042
50
Hydroxocobalamin Approved 13422-51-0 11953898 44475014

Interventional clinical trials:

(show all 30)
# 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 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
9 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
10 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Not yet recruiting NCT03367546 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 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
16 Data Collection in Women With Fabry Disease Completed NCT00030134
17 Registry of Fabry Disease - A Multicenter Observational Study Completed NCT00055016
18 Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity Completed NCT00106912
19 Glycosylation in Patients With Galactosaemia Completed NCT02218632 Not Applicable
20 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315
21 Natural History Study of Patients With Hypophosphatasia (HPP) Recruiting NCT02237625
22 Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain Recruiting NCT02450604 Not Applicable
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 Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia Enrolling by invitation NCT03167697 Not Applicable
27 Compliance, Tolerance and Acceptability of a Tablet Protein Substitute for the Dietary Management of Phenylketonuria Not yet recruiting NCT03333720 Not Applicable
28 Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia Not yet recruiting NCT03418389
29 Single Patient Expanded Access Protocol: Metabolic Boost No longer available NCT02021266
30 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, Bone Marrow, Testes, Skin, Brain, Eye

Publications for Inherited Metabolic Disorder

Articles related to Inherited Metabolic Disorder:

(show top 50) (show all 71)
# Title Authors Year
1
Valproate-induced hyperammonemia - uncovering an underlying inherited metabolic disorder: a case report. ( 29769109 )
2018
2
Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria - a 10-year single-center experience. ( 27564695 )
2016
3
Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience. ( 25902754 )
2015
4
Transplantation for inherited metabolic disorders of the liver. ( 23498779 )
2013
5
Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future. ( 23947109 )
2013
6
Insurance coverage of medical foods for treatment of inherited metabolic disorders. ( 23598714 )
2013
7
Outcomes of haematopoietic stem cell transplantation for inherited metabolic disorders: a report from the Australian and New Zealand Children's Haematology Oncology Group and the Australasian Bone Marrow Transplant Recipient Registry. ( 23802616 )
2013
8
Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines. ( 22168925 )
2013
9
Therapeutic hepatocyte transplant for inherited metabolic disorders: functional considerations, recent outcomes and future prospects. ( 24085555 )
2013
10
Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders. ( 24149831 )
2013
11
Developmental and psychiatric presentations of inherited metabolic disorders. ( 23419468 )
2013
12
Feeding difficulties in children with inherited metabolic disorders: a pilot study. ( 22320889 )
2012
13
Home enteral tube feeding in children with inherited metabolic disorders: a review of long-term carer knowledge and technique. ( 22958195 )
2012
14
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. ( 22475884 )
2012
15
Epilepsy in inherited metabolic disorders: a pediatric series. ( 22992533 )
2012
16
Adherence issues in inherited metabolic disorders treated by low natural protein diets. ( 23208158 )
2012
17
Accuracy of home enteral feed preparation for children with inherited metabolic disorders. ( 21114554 )
2011
18
Neuroimaging of inherited metabolic disorders producing seizures. ( 21463921 )
2011
19
Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders? ( 21291466 )
2011
20
Gene transfer for inherited metabolic disorders of the liver: immunological challenges. ( 21774775 )
2011
21
Should children with inherited metabolic disorders receive varicella vaccination? ( 19846994 )
2011
22
Pharmacokinetics of clofarabine in patients with high-risk inherited metabolic disorders undergoing brain-sparing hematopoietic cell transplantation. ( 20525919 )
2011
23
Stem cell transplantation in inherited metabolic disorders. ( 22160047 )
2011
24
Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. ( 20065125 )
2010
25
Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. ( 20307715 )
2010
26
Liver transplantation for inherited metabolic disorders of the liver. ( 20489626 )
2010
27
Monitoring of home safety issues in children on enteral feeds with inherited metabolic disorders. ( 19395404 )
2010
28
Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy. ( 20961553 )
2010
29
Inherited metabolic disorders involving the eye: a clinico-biochemical perspective. ( 19798114 )
2010
30
Early onset epilepsy and inherited metabolic disorders: diagnosis and management. ( 20481269 )
2010
31
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. ( 20142522 )
2010
32
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells. ( 20739751 )
2010
33
Errors in emergency feeds in inherited metabolic disorders: a randomised controlled trial of three preparation methods. ( 20522472 )
2010
34
The impact of visual media to encourage low protein cooking in inherited metabolic disorders. ( 19344377 )
2009
35
Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes. ( 18587012 )
2008
36
Epilepsy in inherited metabolic disorders. ( 19225367 )
2008
37
Spectrum of inherited metabolic disorders in Malaysia. ( 19904455 )
2008
38
[Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms]. ( 18252165 )
2008
39
Stem cell therapy for inherited metabolic disorders of the liver. ( 18375039 )
2008
40
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM. ( 19016343 )
2008
41
Inherited metabolic disorders and cerebral infarction. ( 18986243 )
2008
42
Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy. ( 18217108 )
2008
43
Capillary electrophoretic method for nucleotide analysis in cells: application on inherited metabolic disorders. ( 17203505 )
2007
44
Home enteral tube feeding in patients with inherited metabolic disorders: safety issues. ( 17845378 )
2007
45
The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model. ( 17391418 )
2007
46
The incidence of inherited metabolic disorders in the West Midlands, UK. ( 16690699 )
2006
47
Pregnancy issues in inherited metabolic disorders. ( 16763893 )
2006
48
Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects. ( 16563365 )
2006
49
External proficiency testing programmes in laboratory diagnoses of inherited metabolic disorders. ( 17102891 )
2006
50
First-trimester fetal nuchal translucency and inherited metabolic disorders. ( 16378318 )
2006

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 9.85 ATP7B CLN3 COG2 INS SERPINA1
2 lysosomal membrane GO:0005765 9.73 CLN3 ENSG00000261832 GAA GBA
3 endoplasmic reticulum lumen GO:0005788 9.67 APOB INS SERPINA1 TF
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 9.4 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 21)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.84 APOB INS SERPINA1 TF
2 membrane organization GO:0061024 9.77 APOB CLN3 TF
3 cellular response to tumor necrosis factor GO:0071356 9.77 APOB GBA HAMP
4 steroid metabolic process GO:0008202 9.75 APOB CYP21A2 UGT1A1
5 response to ethanol GO:0045471 9.73 FECH HAMP UGT1A1
6 response to organic substance GO:0010033 9.72 APOB INS UGT1A1
7 negative regulation of catalytic activity GO:0043086 9.67 CLN3 TF UGT1A1
8 cellular iron ion homeostasis GO:0006879 9.65 HAMP HFE TF
9 metabolic process GO:0008152 9.63 GAA GBA GLA IDUA MTHFR UGT1A1
10 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 HFE TF
11 glycosphingolipid metabolic process GO:0006687 9.58 GBA GBA3 GLA
12 response to iron ion GO:0010039 9.57 HAMP HFE
13 multicellular organismal iron ion homeostasis GO:0060586 9.52 HAMP HFE
14 positive regulation of peptide hormone secretion GO:0090277 9.51 HFE INS
15 cellular response to iron ion GO:0071281 9.46 HFE TF
16 glycoside catabolic process GO:0016139 9.43 GBA3 GLA
17 regulation of iron ion import GO:1900390 9.37 HFE TF
18 carbohydrate metabolic process GO:0005975 9.35 GAA GBA3 GLA IDUA INS
19 response to iron ion starvation GO:1990641 9.32 HAMP HFE
20 glycosylceramide catabolic process GO:0046477 9.26 GBA3 GLA
21 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
40 LOVD
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
73 UMLS
74 UMLS via Orphanet
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