MCID: MTH007
MIFTS: 46

Methemoglobinemia

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Methemoglobinemia

MalaCards integrated aliases for Methemoglobinemia:

Name: Methemoglobinemia 12 73 36 54 6 44 15 39 70

Classifications:



External Ids:

Disease Ontology 12 DOID:10783
KEGG 36 H00235
ICD9CM 34 289.7
MeSH 44 D008708
NCIt 50 C34817
SNOMED-CT 67 191386007
ICD10 32 D74
UMLS 70 C0025637

Summaries for Methemoglobinemia

KEGG : 36 Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency.

MalaCards based summary : Methemoglobinemia is related to acquired methemoglobinemia and congenital methemoglobinemia, and has symptoms including cyanosis An important gene associated with Methemoglobinemia is CYB5R3 (Cytochrome B5 Reductase 3), and among its related pathways/superpathways are Amino sugar and nucleotide sugar metabolism and Metabolism. The drugs Methylene blue and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 73 Methemoglobinemia is a condition of elevated methemoglobin in the blood. Symptoms may include headache,... more...

Related Diseases for Methemoglobinemia

Diseases in the Methemoglobinemia family:

Methemoglobinemia, Beta Type Methemoglobinemia, Alpha Type
Congenital Methemoglobinemia Acquired Methemoglobinemia

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

(show top 50) (show all 276)
# Related Disease Score Top Affiliating Genes
1 acquired methemoglobinemia 32.4 HBG2 G6PD CYB5R3
2 congenital methemoglobinemia 32.4 SOD1 HBG2 G6PD CYB5R3 CYB5A
3 methemoglobinemia, beta-globin type 32.3 LOC107133510 LOC106099062 HBB HBA2 HBA1
4 methemoglobinemia, beta type 32.2 LOC107133510 LOC106099062 HBB
5 glucosephosphate dehydrogenase deficiency 30.2 HP HBG2 HBB GSR G6PD
6 hemoglobin e disease 30.0 LOC107133510 LOC106099062 HBB
7 thalassemia minor 29.9 LOC107133510 LOC106099062 HBB HBA2
8 beta-thalassemia major 29.8 LOC107133510 LOC106099062 HBB
9 thalassemia 29.8 LOC107133510 LOC106099062 HBB HBA2 HBA1 G6PD
10 bilirubin metabolic disorder 29.6 HP HBG2 G6PD CYP3A4 CYP2E1
11 hemolytic anemia 29.5 LOC107133510 LOC106099062 HP HBG2 HBB HBA2
12 heinz body anemias 29.2 LOC107133510 LOC106099062 HP HBB HBA2 HBA1
13 sickle cell anemia 29.0 LOC107133510 LOC106099062 HBG2 HBB HBA2 HBA1
14 beta-thalassemia 28.9 LOC107133510 LOC106099062 HBG2 HBB HBA2 HBA1
15 alpha-thalassemia 28.6 LOC107133510 LOC106099062 HP HBG2 HBB HBA2
16 deficiency anemia 28.1 SOD1 NAT2 LOC107133510 LOC106099062 HP HBG2
17 malaria 28.1 SOD1 LOC107133510 LOC106099062 HP HBB HBA2
18 hemoglobinopathy 27.9 LOC107133510 LOC106099062 HP HBG2 HBB HBA2
19 methemoglobinemia due to deficiency of methemoglobin reductase 11.8
20 methemoglobinemia and ambiguous genitalia 11.6
21 methemoglobinemia, alpha type 11.3
22 cyanosis, transient neonatal 10.9
23 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.3 HBG2 HBB
24 methemoglobin reductase deficiency 10.3
25 diarrhea 10.3
26 respiratory failure 10.3
27 sulfhemoglobinemia 10.3
28 kidney disease 10.3
29 leprosy 3 10.2
30 hansen's disease 10.2
31 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.2 HBA2 HBA1
32 ocular motor apraxia 10.2
33 metabolic acidosis 10.2
34 hemoglobin e-beta-thalassemia syndrome 10.2 LOC107133510 LOC106099062 HBB
35 alzheimer disease 13 10.2 CYP2E1 CYB5A
36 alpha thalassemia-intellectual disability syndrome type 1 10.2 HBA2 HBA1
37 sickle cell disease and related diseases 10.2 LOC107133510 LOC106099062 HBB
38 beta-thalassemia intermedia 10.2 LOC107133510 LOC106099062 HBB
39 immune hydrops fetalis 10.2 HBA2 HBA1
40 acute kidney failure 10.2
41 beta-thalassemia, dominant inclusion body type 10.2 LOC107133510 LOC106099062 HBB
42 hemoglobin d disease 10.2 LOC107133510 HBB
43 erythrocytosis, familial, 7 10.2 HBA2 HBA1
44 splenic infarction 10.2 LOC107133510 LOC106099062 HBB
45 hemoglobin c disease 10.2 LOC107133510 LOC106099062 HBB
46 hypoglycemic coma 10.2 HBA2 HBA1
47 type 1 diabetes mellitus 24 10.2 HBA2 HBA1
48 glutathione peroxidase deficiency 10.1 HBB HBA2 HBA1
49 blackwater fever 10.1 HP G6PD
50 autosomal recessive disease 10.1

Graphical network of the top 20 diseases related to Methemoglobinemia:



Diseases related to Methemoglobinemia

Symptoms & Phenotypes for Methemoglobinemia

UMLS symptoms related to Methemoglobinemia:


cyanosis

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.5 CYB5A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.5 HBA1 HBA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.5 CYB5A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.5 CYB5A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.5 HBA1 HBA2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.5 CYB5A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.5 HBA1 HBA2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.5 CYB5A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.5 HBA1 HBA2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.5 CYB5A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.5 CYB5A

Drugs & Therapeutics for Methemoglobinemia

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

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Approved, Investigational Phase 4 61-73-4
2
Levoleucovorin Approved, Investigational Phase 1 68538-85-2 149436
3
Dapsone Approved, Investigational Phase 1 80-08-0 2955
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
5 Folic Acid Antagonists Phase 1
6 Vitamin B9 Phase 1
7 Antiparasitic Agents Phase 1
8 Anti-Bacterial Agents Phase 1
9 Vitamin B Complex Phase 1
10 Antimalarials Phase 1
11 Antiprotozoal Agents Phase 1
12 Folate Phase 1
13 Anti-Infective Agents Phase 1
14 Pharmaceutical Solutions Phase 1
15
Epinephrine Approved, Vet_approved 51-43-4 5816
16
Racepinephrine Approved 329-65-7 838
17
Prilocaine Approved 721-50-6 4906
18
Lidocaine Approved, Vet_approved 137-58-6 3676
19 Anesthetics
20 Adrenergic alpha-Agonists
21 Sodium Channel Blockers
22 Anti-Arrhythmia Agents
23 Adrenergic Agonists
24 Anti-Asthmatic Agents
25 Respiratory System Agents
26 Neurotransmitter Agents
27 Epinephryl borate
28 Adrenergic beta-Agonists
29 Diuretics, Potassium Sparing
30 Anesthetics, Local
31 Mydriatics
32 Adrenergic Agents
33 Bronchodilator Agents
34 Vasoconstrictor Agents
35 Sympathomimetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label Clinical Study to Evaluate the Safety and Efficacy of ProvayBlueTM (Methylene Blue) for the Treatment of Acquired Methemoglobinemia Completed NCT03395223 Phase 4 Methylene Blue
2 A One-Period, Single-Dose, Safety, Tolerability, and Pharmacokinetic Study of Methylene Blue Injection USP Following a 1 mg/kg Intravenous Dose in Healthy Adult Volunteers Completed NCT02478281 Phase 1 Methylene Blue
3 Pharmacokinetics and Distribution of Dapsone (DDS) in Leucocytes After Single-dose and Multiple-dose Administration in Healthy Subjects Genotyped for CYP2C9 and NAT2 and in Patients With Autoimmune Bullous Dermatoses Completed NCT02493283 Phase 1 Dapsone single dose;Dapsone multiple dose
4 Use of Methylene Blue in Acquired Methemoglobinemia: Prospective Observational Registry (metHb) Unknown status NCT03542760 Methylene Blue
5 Dapsone Induced Methemoglobinemia in Pediatric Hematologic Malignancy and Aplastic Anemia Completed NCT00993694 chemotherapy;dapsone
6 Accuracy of Detection of Methemoglobin With Pulse Oximetry Completed NCT03869840
7 Methemoglobinemia After Liposuction Under Tumescent Local Anesthesia - Timecourse and Diagnostics by Pulse Oximetry and Blood Gas Analysis. Completed NCT01766999
8 Methemoglobin Levels in Generally Anesthetized Pediatric Dental Patients Receiving Prilocaine Versus Lidocaine Completed NCT01402869 4% prilocaine plain;2% Lidocaine with 1:100,000 epinephrine

Search NIH Clinical Center for Methemoglobinemia

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Ascorbic Acid
Ascorbic Acid Powder
Methylene blue
Sodium Ascorbate

Cochrane evidence based reviews: methemoglobinemia

Genetic Tests for Methemoglobinemia

Anatomical Context for Methemoglobinemia

MalaCards organs/tissues related to Methemoglobinemia:

40
Heart, Kidney, Skin, Thyroid, Whole Blood, Tongue, Spleen

Publications for Methemoglobinemia

Articles related to Methemoglobinemia:

(show top 50) (show all 2419)
# Title Authors PMID Year
1
Methemoglobinemia presenting in a circumcised baby following application of prilocaine: a case report. 54 61
20181170 2010
2
A novel mutation in type II methemoglobinemia. 61 54
19471045 2010
3
[Acquired methemoglobinemia--case report]. 61 54
20306428 2010
4
Intraoperative diagnosis of unsuspected methemoglobinemia due to low pulse oximetry values. 61 54
19617227 2009
5
A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia. 61 54
19579085 2009
6
A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II. 54 61
19480335 2009
7
Methemoglobinemia related to local anesthetics: a summary of 242 episodes. 54 61
19224791 2009
8
Methemoglobinemia due to application of prilocaine during circumcision and the effect of ascorbic acid. 61 54
19013416 2008
9
Topical benzocaine-induced methemoglobinemia in the pediatric population. 61 54
18971079 2008
10
Exchange transfusion as treatment for rasburicase induced methemoglobinemia in a glucose-6-phosphate dehydrogenase deficient patient. 61 54
18561168 2008
11
[Establishment of a cellular model with human NADH-cytochrome b5 reductase deficiency via RNA interference]. 61 54
18683136 2008
12
A multicenter phase II trial of 3-aminopyridine-2-carboxaldehyde thiosemicarbazone (3-AP, Triapine) and gemcitabine in advanced non-small-cell lung cancer with pharmacokinetic evaluation using peripheral blood mononuclear cells. 61 54
17851637 2008
13
Severe methemoglobinemia and syncope in a patient with glucose-6-phosphate dehydrogenase deficiency. 61 54
17939637 2007
14
[Association of methemoglobinemia and glucose-6-phosphate dehydrogenase deficiency in malaria patients treated with primaquine]. 61 54
17992408 2007
15
Rediscovery of the susceptibility of G6PD deficient persons to methemoglobinemia from oxidant drugs, and to hemolysis from methylene blue. 61 54
16917918 2007
16
The role of methemoglobinemia in early and late complicated pregnancy. 54 61
17112681 2007
17
Severe methemoglobinemia complicating topical benzocaine use during endoscopy in a toddler: a case report and review of the literature. 61 54
16585290 2006
18
Spotlight on rasburicase in anticancer therapy-induced hyperuricemia. 54 61
16724869 2006
19
Complications related to dapsone use for Pneumocystis jirovecii pneumonia prophylaxis in solid organ transplant recipients. 61 54
16212642 2005
20
Hemolysis and methemoglobinemia secondary to rasburicase administration. 61 54
16204390 2005
21
A case with quadriparetic cerebral palsy and cyanosis: congenital methemoglobinemia. 54 61
16087059 2005
22
Methemoglobinemia induced by topical vaginal sulfanilamide cream in a patient with cervical cancer: a case report. 54 61
15907987 2005
23
Prophylactic methylene blue in a patient with congenital methemoglobinemia. 61 54
15753496 2005
24
Methemoglobinemia in children with acute lymphoblastic leukemia (ALL) receiving dapsone for pneumocystis carinii pneumonia (PCP) prophylaxis: a correlation with cytochrome b5 reductase (Cb5R) enzyme levels. 61 54
15390276 2005
25
Prolonged hemolysis and methemoglobinemia following organic copper fungicide ingestion. 61 54
15587250 2004
26
Prilocaine plasma levels and methemoglobinemia in patients undergoing tumescent liposuction involving less than 2,000 ml. 61 54
15870963 2004
27
The structure of the S127P mutant of cytochrome b5 reductase that causes methemoglobinemia shows the AMP moiety of the flavin occupying the substrate binding site. 61 54
14609324 2003
28
[Methemoglobinemia due to prilocaine after plexus anesthesia. Reduction by prophylactic administration of ascorbic acid?]. 61 54
14992088 2003
29
Anesthetic management of a patient with methemoglobinemia. 54 61
12911193 2003
30
Severe methemoglobinemia after transesophageal echocardiography. 54 61
12756430 2003
31
Methemoglobinemia following unintentional ingestion of sodium nitrite--New York, 2002. 61 54
12186221 2002
32
Hemolytic anemia after methylene blue therapy for aniline-induced methemoglobinemia. 61 54
11824767 2002
33
Metoclopramide-induced methemoglobinemia in a patient with co-existing deficiency of glucose-6-phosphate dehydrogenase and NADH-cytochrome b5 reductase: failure of methylene blue treatment. 61 54
11418378 2001
34
Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene. 54 61
11295830 2001
35
A Thai boy with hereditary enzymopenic methemoglobinemia type II. 54 61
11215870 2000
36
[Acute dapsone exposure and methemoglobinemia in children: treatment with multiple doses of activated charcoal with or without the administration of methylene blue] 61 54
14647658 2000
37
Metoclopramide-induced methemoglobinemia in an adult. 54 61
10870338 2000
38
A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia. 54 61
10807796 2000
39
Combined effects of inhaled nitric oxide (iNO) and oxidant agents on the production of methemoglobinemia in newborn piglets. 54 61
10809284 2000
40
A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis. 54 61
10874300 2000
41
[A novel point mutation in NADH-cytochrome b5 reductase gene]. 61 54
11721397 1999
42
Hb Chile [beta28(B10)Leu-->Met]: an unstable hemoglobin associated with chronic methemoglobinemia and sulfonamide or methylene blue-induced hemolytic anemia. 54 61
10335980 1999
43
Methemoglobinemia induced by methylene blue pertubation during laparoscopy. 54 61
9605379 1998
44
Antibody-based spot test for NADH-cytochrome b5 reductase activity for the laboratory diagnosis of congenital methemoglobinemia. 54 61
9620466 1998
45
A systematic review of lidocaine-prilocaine cream (EMLA) in the treatment of acute pain in neonates. 61 54
9445511 1998
46
Improved oxygenation in a randomized trial of inhaled nitric oxide for persistent pulmonary hypertension of the newborn. 54 61
9347001 1997
47
Methodologic problems encountered with cooximetry in methemoglobinemia. 54 61
9298047 1997
48
Methemoglobinemia caused by topical benzocaine. 54 61
9324196 1997
49
Methemoglobinemia induced by an over-the-counter medication. 61 54
8913407 1996
50
Dapsone- and primaquine-induced methemoglobinemia in HIV-infected individuals. 61 54
8757424 1996

Variations for Methemoglobinemia

ClinVar genetic disease variations for Methemoglobinemia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 22 genes GRCh37/hg19 17p11.2(chr17:16936603-18184130) copy number loss Pathogenic 523258 GRCh37: 17:16936603-18184130
GRCh38:

Expression for Methemoglobinemia

Search GEO for disease gene expression data for Methemoglobinemia.

Pathways for Methemoglobinemia

Pathways related to Methemoglobinemia according to KEGG:

36
# Name Kegg Source Accession
1 Amino sugar and nucleotide sugar metabolism hsa00520

Pathways related to Methemoglobinemia according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 NAT2 HBB HBA2 HBA1 GSR G6PD
2
Show member pathways
12.96 NAT2 GSR CYP3A4 CYP2E1 CYB5R3 CYB5R1
3
Show member pathways
12.09 SOD1 HBB HBA1 GSR
4 11.87 GSR G6PD BLVRB
5
Show member pathways
11.57 HP HBB HBA2 HBA1
6
Show member pathways
11.54 CYB5RL CYB5R3 CYB5R1
7 11.31 HBB HBA2 HBA1
8 11.11 HBB HBA2 HBA1
9
Show member pathways
10.93 NAT2 CYP3A4 CYP2E1
10 10.9 CYP3A4 CYP2E1
11
Show member pathways
10.9 HBB HBA2 HBA1 CYB5RL CYB5R1
12 10.81 CYP3A4 CYP2E1
13 10.75 GSR G6PD
14 9.53 G6PD CYB5R3 CYB5A BLVRB

GO Terms for Methemoglobinemia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 SOD1 HP HBB HBA2 HBA1 GSR
2 endoplasmic reticulum membrane GO:0005789 9.85 CYP3A4 CYP2E1 CYB5RL CYB5R3 CYB5R1 CYB5A
3 blood microparticle GO:0072562 9.65 HP HBG2 HBB HBA2 HBA1
4 organelle membrane GO:0031090 9.58 CYP3A4 CYP2E1 CYB5A
5 endocytic vesicle lumen GO:0071682 9.46 HP HBB HBA2 HBA1
6 hemoglobin complex GO:0005833 9.35 HBG2 HBB HBA2 HBA1 CYB5R3
7 haptoglobin-hemoglobin complex GO:0031838 9.02 HP HBG2 HBB HBA2 HBA1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.97 G6PD CYP3A4 CYP2E1 CYB5R3 CYB5R1
2 receptor-mediated endocytosis GO:0006898 9.78 HP HBB HBA2 HBA1
3 response to ethanol GO:0045471 9.76 SOD1 G6PD CYP2E1
4 steroid metabolic process GO:0008202 9.76 CYP3A4 CYP2E1 CYB5R3 CYB5R1
5 cellular response to oxidative stress GO:0034599 9.75 SOD1 GSR G6PD
6 xenobiotic metabolic process GO:0006805 9.73 NAT2 CYP3A4 CYP2E1 CYB5R3
7 steroid biosynthetic process GO:0006694 9.72 CYP3A4 CYB5R3 CYB5R1
8 positive regulation of cell death GO:0010942 9.71 HP HBB HBA2 HBA1
9 glutathione metabolic process GO:0006749 9.67 SOD1 GSR G6PD
10 hydrogen peroxide catabolic process GO:0042744 9.67 HBG2 HBB HBA2 HBA1
11 response to hydrogen peroxide GO:0042542 9.65 SOD1 HP HBB HBA2 HBA1
12 oxygen transport GO:0015671 9.62 HBG2 HBB HBA2 HBA1
13 drug metabolic process GO:0017144 9.61 CYP3A4 CYP2E1
14 long-chain fatty acid biosynthetic process GO:0042759 9.6 CYP3A4 CYP2E1
15 exogenous drug catabolic process GO:0042738 9.59 CYP3A4 CYP2E1
16 L-ascorbic acid metabolic process GO:0019852 9.56 CYB5R3 CYB5A
17 bicarbonate transport GO:0015701 9.55 HBB HBA2 HBA1 CYB5RL CYB5R1
18 heterocycle metabolic process GO:0046483 9.54 CYP3A4 CYP2E1
19 lipid hydroxylation GO:0002933 9.52 CYP3A4 CYP2E1
20 monoterpenoid metabolic process GO:0016098 9.51 CYP3A4 CYP2E1
21 cellular oxidant detoxification GO:0098869 9.43 HP HBG2 HBB HBA2 HBA1 GSR
22 oxidation-reduction process GO:0055114 9.32 SOD1 GSR G6PD CYP3A4 CYP2E1 CYB5RL

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.91 SOD1 GSR G6PD CYP3A4 CYP2E1 CYB5RL
2 enzyme binding GO:0019899 9.81 SOD1 CYP3A4 CYP2E1 CYB5A
3 iron ion binding GO:0005506 9.76 HBA2 HBA1 CYP3A4 CYP2E1
4 peroxidase activity GO:0004601 9.71 HBG2 HBB HBA2 HBA1
5 oxygen carrier activity GO:0005344 9.67 HBG2 HBB HBA2 HBA1
6 organic acid binding GO:0043177 9.62 HBG2 HBB HBA2 HBA1
7 cytochrome-b5 reductase activity, acting on NAD(P)H GO:0004128 9.61 CYB5RL CYB5R3 CYB5R1
8 antioxidant activity GO:0016209 9.54 SOD1 HP
9 aromatase activity GO:0070330 9.52 CYP3A4 CYP2E1
10 heme binding GO:0020037 9.5 HBG2 HBB HBA2 HBA1 CYP3A4 CYP2E1
11 hemoglobin alpha binding GO:0031721 9.49 HBG2 HBB
12 hemoglobin binding GO:0030492 9.48 HP HBB
13 haptoglobin binding GO:0031720 9.46 HBG2 HBB HBA2 HBA1
14 oxygen binding GO:0019825 9.1 HBG2 HBB HBA2 HBA1 CYP3A4 CYP2E1

Sources for Methemoglobinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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