MCID: MTH007
MIFTS: 62

Methemoglobinemia malady

Genetic diseases, Immune diseases, Blood diseases, Rare diseases categories
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Summaries for Methemoglobinemia

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65Wikipedia, 33MalaCards
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Wikipedia:65 Methemoglobinemia (or methaemoglobinaemia) is a disorder characterized by the presence of a higher than... more...

MalaCards: Methemoglobinemia, also known as methemoglobinemia nos, is related to hemolytic anemia and sulfhemoglobinemia. An important gene associated with Methemoglobinemia is CYB5A (cytochrome b5 type A (microsomal)), and among its related pathways are Sulfation Biotransformation Reaction and Folate Metabolism. The drugs sodium ascorbate and ascorbic acid and the compounds hads and no-dimethylhydroxylamine have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and heart, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Aliases & Classifications for Methemoglobinemia

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8Disease Ontology, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases


Aliases & Descriptions:

methemoglobinemia 8 10 45 62
methemoglobinemia nos 8
methaemoglobinaemia 8


External Ids:

Disease Ontology8 DOID:10783
NCIt40 C34817
MeSH35 D008708
ICD9CM27 289.7
ICD1025 D74, D74.9

Related Diseases for Methemoglobinemia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Methemoglobinemia, Type I family:

Congenital Methemoglobinemia methemoglobinemia
Hereditary Methemoglobinemia, Recessive Methemoglobinemias, Beta-
Methemoglobinemias, Alpha- Methemoglobinemia, Type Iv
Methemoglobinemia, Type Ii

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

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia30.7HBG2, HP, HBB, G6PD
2sulfhemoglobinemia30.6SHB, HBG2
3methemoglobinemia, type iv30.4CYB5R3, HBG2, CYB5A
4malaria30.3G6PD, GSR, HP, HBB
5favism30.0HP, G6PD
6hemoglobinopathy30.0HP, G6PD, HBB
7hepatitis29.8CYP3A4, CYP2E1, HP
8tuberculosis29.7HP, CYP3A4, GSR, CYP2E1, HBB
9congenital methemoglobinemia10.8
10methemoglobinemia, type i10.5
11methemoglobinemia beta-globin type10.4
12methemoglobinemia, type ii10.4
13mental retardation10.3
14diarrhea10.3
15leukemia10.2
16nadh cytochrome b5 reductase deficiency10.2
17autosomal dominant methemoglobinemia10.2
18aspiration pneumonia10.2
19burns10.1
20pneumonia10.1
21hereditary methemoglobinemia, recessive10.1
22blackwater fever10.1G6PD
23hereditary persistence of fetal hemoglobin10.1HBB
24diabetic cataract10.1G6PD, GSR
25histiocytosis-lymphadenopathy plus syndrome10.1G6PD, HBB
26congenital hemolytic anemia10.1HP, G6PD
27hemoglobinuria10.1G6PD, HP
28hemoglobinemia10.1HBB, HP
29alpha thalassemia10.1G6PD, HBB
30iron deficiency anemia10.1HBG2, G6PD
31autoimmune hemolytic anemia10.1HP, G6PD
32paroxysmal nocturnal hemoglobinuria10.1HP, G6PD
33phenylketonuria10.1G6PD, HBB
34sickle cell anemia10.1HBB, HBG2
35bilirubin metabolic disorder10.1HP, G6PD, HBG2
36acute kidney failure10.1HP, HBG2, G6PD
37glucosephosphate dehydrogenase deficiency10.1G6PD, HP, GSR
38chronic granulomatous disease10.1HBG2, SOD1, G6PD
39wilson disease10.1SOD1, G6PD
40pharyngitis10.1
41cervicitis10.1
42leprosy10.1
43respiratory failure10.1
44thalassemia10.1
45vaginitis10.1
46hypoxia10.1
47methemoglobinemias, beta-10.1
48methemoglobinemias, alpha-10.1
49senile cataract10.1GSR, SOD1, G6PD
50polycythemia10.1HBB, G6PD

Graphical network of the top 20 diseases related to Methemoglobinemia:



Diseases related to methemoglobinemia

Symptoms for Methemoglobinemia

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Drugs & Therapeutics for Methemoglobinemia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Methemoglobinemia

Search NIH Clinical Center for Methemoglobinemia

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Methemoglobinemia

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Anatomical Context for Methemoglobinemia

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33MalaCards
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MalaCards organs/tissues related to Methemoglobinemia:

33
Kidney, Lung, Heart, Skin, Liver, Brain, Spleen, Testes, Whole blood

Animal Models for Methemoglobinemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Methemoglobinemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0HP, SOD1, HBB, CYB5A, CYP2E1
2MP:00053857.9GSR, CYP2E1, SHB, HBB, SOD1, G6PD

Publications for Methemoglobinemia

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52PubMed
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Articles related to Methemoglobinemia:

(show top 50)    (show all 561)
idTitleAuthorsYear
1
Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia]. (23866629)
2013
2
Cetacaine induced methemoglobinemia: overview of analysis and treatment strategies. (23798277)
2013
3
Prilocaine- and lidocaine-induced methemoglobinemia is caused by human carboxylesterase-, CYP2E1-, and CYP3A4-mediated metabolic activation. (23530020)
2013
4
Methemoglobinemia and hemolytic anemia after rasburicase administration in a child with leukemia. (21057874)
2013
5
Methemoglobinemia after a mediastinal stab wound. (23896056)
2013
6
Acute Favism: Methemoglobinemia May Cause Cyanosis and Low Pulse Oximetry Readings. (23697341)
2013
7
Thinking outside of the blue box: a case presentation of neonatal methemoglobinemia. (24169929)
2013
8
Nail polish remover poisoning: What caused methemoglobinemia? (23580843)
2012
9
Case files of the medical toxicology fellowship at Banner Good Samaritan Medical Center in Phoenix, AZ: methemoglobinemia following dapsone exposure. (21487934)
2011
10
Severe methemoglobinemia after dental anesthesia: a warning about propitocaine-induced methemoglobinemia in neonates. (20706742)
2010
11
Prilocain-induced methemoglobinemia after endovenous laser ablation. (20346699)
2010
12
Acute methemoglobinemia associated with ochronotic valvular heart disease: report of a case. (20333576)
2010
13
A 3-year-old boy with fever and oral lesions. Diagnosis: methemoglobinemia. (19968205)
2009
14
Severe hemolysis and methemoglobinemia following fava beans ingestion in glucose-6-phosphatase dehydrogenase deficiency: case report and literature review. (19263080)
2009
15
Lethal methemoglobinemia and automobile exhaust inhalation. (19261402)
2009
16
A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia. (19579085)
2009
17
Acute cyanosis in a child after percutaneous placement of a peritoneal dialysis catheter: question. Methemoglobinemia. (19172299)
2009
18
Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene. (18343696)
2008
19
A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia. (17964195)
2008
20
Methemoglobinemia and benzocaine. (18049203)
2007
21
Methemoglobinemia: an industrial outbreak among rubber molding workers. (16688009)
2006
22
Images in cardiovascular medicine. Methemoglobinemia as a rare complication during a transesophageal echocardiogram. (16717156)
2006
23
Methemoglobinemia: life-threatening hazard of multiple drug ingestions. (19606800)
2006
24
Infant methemoglobinemia: the role of dietary nitrate in food and water. (16140723)
2005
25
A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II. (15744830)
2005
26
Methylene blue in congenital methemoglobinemia: prophylactic or on demand? (16189344)
2005
27
Benzocaine-induced methemoglobinemia: a condition of which all endoscopists should be aware. (15497003)
2004
28
Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. (15220799)
2004
29
Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*. (15488472)
2004
30
Celecoxib-induced methemoglobinemia. (15328400)
2004
31
A search for mutations in the DIA1 gene in case of hereditary methemoglobinemia type I in the iakut population]. (12884529)
2003
32
Heterologous expression of enzymopenic methemoglobinemia variants using a novel NADH:cytochrome c reductase fusion protein. (12821320)
2003
33
Severe methemoglobinemia after transesophageal echocardiography. (12756430)
2003
34
Cyclophosphamide-induced methemoglobinemia. (14625586)
2003
35
Use of methylene blue to treat methemoglobinemia in infancy. (12144224)
2001
36
Public notification to families with newborns at risk of methemoglobinemia from drinking water exposure, Clymer, New York, 1996-1998. (10537817)
1999
37
Methemoglobinemia after axillary block with bupivacaine and additional injection of lidocaine in the operative field. (10225085)
1999
38
Methemoglobinemia induced by accidental ingestion of nitrite. (17341917)
1998
39
Toxic methemoglobinemia after injection of prilocaine in a newborn. A case report. (10028870)
1998
40
Infant Methemoglobinemia in the Transylvania Region of Romania. (9891097)
1997
41
Index of suspicion. Case 2. Methemoglobinemia. (9360435)
1997
42
Methemoglobinemia complicating topical anesthesia during bronchoscopic procedures. (9270654)
1997
43
Correction of alimentary methemoglobinemia in children of preschool age by inclusion in the diet of products rich in antioxidants, vitamins and dietary fiber]. (8967053)
1996
44
Methemoglobinemia: a complication after fiberoptic orotracheal intubation with benzocaine spray. A case report. (7782367)
1995
45
Chronic methemoglobinemia: improving hemoglobin saturation monitoring during anesthesia. (7931458)
1994
46
A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. (8168836)
1994
47
Methemoglobinemia from topically applied anesthetic spray. (8065193)
1994
48
Topical anesthetic-induced methemoglobinemia in sheep: a comparison of benzocaine and lidocaine. (1601230)
1992
49
An enzyme variation in a case of congenital methemoglobinemia. (4354625)
1973
50
Studies on the congenital methemoglobinemia in Okinawa Islands. 3. Mass survey on Henza and Miyagi Islands. (4751402)
1973

Variations for Methemoglobinemia

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Expression for genes affiliated with Methemoglobinemia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Methemoglobinemia

Search GEO for disease gene expression data for Methemoglobinemia.

Pathways for genes affiliated with Methemoglobinemia

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 51PharmGKB, 60Thomson Reuters, 30KEGG
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Pathways related to Methemoglobinemia according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9GSR, G6PD
2
Show member pathways
Vitamin B12 Metabolism38
9.9SOD1, HBB
39.9SOD1, GSR
4
Show member pathways
9.9GSR, SOD1
59.7CYP3A4, CYP2E1
69.7CYP3A4, CYP2E1
79.7CYP2E1, CYP3A4
8
Show member pathways
9.7CYP2E1, CYP3A4
99.7CYP2E1, CYP3A4
109.7CYP2E1, CYP3A4
11
Show member pathways
thioredoxin pathway38
9.6GSR, HBB, SOD1
129.3CYB5A, G6PD, CYB5R3, BLVRB
13
Show member pathways
colanic acid building blocks biosynthesis38
N-acetylglucosamine degradation I38
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)38
UDP-D-xylose and UDP-D-glucuronate biosynthesis38
N-acetylglucosamine degradation II38
UDP-N-acetyl-D-glucosamine biosynthesis II38
UDP-N-acetyl-D-galactosamine biosynthesis II38
GDP-L-fucose biosynthesis I (from GDP-D-mannose)38
9.1CYB5R1, CYB5R2, CYB5R3
14
Show member pathways
7.9BLVRB, CYB5R3, GSR, CYP2E1, CYB5A, CYP3A4
15
Show member pathways
7.8CYB5R1, CYB5R4, CYB5R2, CYB5R3, CYP2E1, CYB5A

Compounds for genes affiliated with Methemoglobinemia

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45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB, 3BitterDB, 29IUPHAR
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Compounds related to Methemoglobinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 275)
idCompoundScoreTop Affiliating Genes
1hads4510.2CYB5R3, CYB5A, HBG2
2no-dimethylhydroxylamine4510.0G6PD, HBG2, GSR
3s-nitrosocysteine4510.0HBB, SOD1, HBG2
4methylene blue45 5110.9BLVRB, G6PD, CYB5R3
523-diphosphoglycerate459.9HBG2, HBB, HP, G6PD
6semiquinone459.8CYB5R3, HBG2, SOD1
7propyl gallate459.8GSR, CYP2E1, SOD1
8primaquine45 51 1111.8CYB5R3, CYP3A4, HBG2, G6PD
9thiobarbituric acid459.7G6PD, HP, SOD1, GSR
103-amino-1,2,4-triazole459.7HBG2, SOD1, GSR
11gssg459.7GSR, HBG2, SOD1, G6PD
12methylene459.7HBG2, G6PD, CYB5R3, BLVRB
13sulfadiazine45 51 1111.6CYP2E1, G6PD, CYP3A4
14flavin459.6CYB5A, CYB5R3, BLVRB, GSR
15benzyl alcohol45 1110.5HBG2, CYP3A4, CYP2E1, SOD1
16alpha tocopherol459.5SOD1, GSR, G6PD, HBG2, CYB5A
17malondialdehyde459.5HBG2, SOD1, GSR, G6PD, HP
18benzphetamine45 1110.5CYP2E1, CYB5A, CYP3A4
19uric acid45 2410.5G6PD, HP, GSR, HBG2, SOD1
20nitroglycerin45 1110.5GSR, SOD1, BLVRB, HBG2
21methimazole45 3 1111.4CYP3A4, G6PD, GSR, CYP2E1
22diethyl dithiocarbamate459.4CYP2E1, CYP3A4, GSR, SOD1
23dapsone45 3 51 1112.4CYB5R3, CYP2E1, CYP3A4, HBG2, G6PD
24acetaminophen45 3 51 24 1113.4CYB5A, CYP2E1, G6PD, CYP3A4, HBG2
25tocopherol459.3CYB5A, HBG2, SOD1, G6PD, HP, GSR
26vitamin-e459.3SOD1, HBG2, CYB5A, G6PD, HP, GSR
27dmso459.2HBB, G6PD, CYP2E1, SOD1, CYB5A
28menadione45 24 1111.2CYB5R3, CYP2E1, CYB5A, HBG2, SOD1, GSR
294-hydroxynonenal45 2410.2CYP2E1, SOD1, G6PD, GSR
30carbon459.2G6PD, HBG2, CYB5A, CYP2E1, BLVRB
31methoxyflurane51 45 1111.2CYP3A4, CYB5A, CYP2E1
32quinine45 29 3 51 1113.2CYP2E1, G6PD, CYP3A4, BLVRB
33metoclopramide45 51 1111.1CYB5R3, CYB5R4, CYB5R2, CYB5R1
34glucose 6-phosphate45 2410.0SOD1, HBB, G6PD, GSR, HBG2, CYB5R3
35NADP248.9CYP2E1, CYP3A4, G6PD, GSR, BLVRB
36epinephrine45 24 1110.9GSR, HP, HBG2, G6PD, CYP3A4
37iron45 249.9CYB5R3, BLVRB, HP, CYB5A, SOD1, HBB
38superoxide45 249.8SOD1, GSR, CYB5R3, HBG2, CYB5A, BLVRB
39creatinine458.8GSR, HP, SOD1, CYP2E1, HBG2, G6PD
40ascorbic acid45 249.7GSR, HP, G6PD, SOD1, HBG2, CYB5A
41arginine458.7HBG2, CYB5R3, BLVRB, SOD1, GSR, HBB
42lactate458.6CYB5A, HBG2, HP, HBB, CYP2E1, G6PD
43heme29 24 1110.6CYB5R4, CYP2E1, CYB5A, CYP3A4, HBG2, HBB
44lipid458.5HBG2, CYB5R3, CYP2E1, SOD1, G6PD, HP
45h2o2458.4G6PD, HP, CYB5R3, GSR, HBB, CYP2E1
46nadph45 249.1CYB5R3, CYP2E1, CYB5A, CYP3A4, SOD1, G6PD
47FAD248.0CYB5R1, CYB5R3, CYB5R2, CYB5R4, GSR, CYB5RL
48oxygen45 249.0CYB5R3, GSR, G6PD, SOD1, HBB, CYP2E1
49nad29 248.6CYB5R1, BLVRB, CYB5R2, GSR, CYB5RL, CYB5R3
50nadh45 24 118.6G6PD, CYB5R1, GSR, SOD1, HBG2, CYB5A

GO Terms for genes affiliated with Methemoglobinemia

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16Gene Ontology
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Cellular components related to Methemoglobinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:03183810.0HBB, HP
2hemoglobin complexGO:0058339.8CYB5R3, HBB, HBG2
3endocytic vesicle lumenGO:0716829.6HP, HBB
4blood microparticleGO:0725629.6HP, HBB, HBG2
5mitochondrionGO:0057398.4CYB5R2, CYB5R3, CYP2E1, CYB5R1, SOD1
6extracellular vesicular exosomeGO:0700628.0G6PD, HBB, GSR, HP, CYB5R1, BLVRB

Biological processes related to Methemoglobinemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1L-ascorbic acid metabolic processGO:01985210.0CYB5R3, CYB5A
2NADP metabolic processGO:00673910.0CYB5R4, G6PD
3heterocycle metabolic processGO:0464839.9CYP2E1, CYP3A4
4monoterpenoid metabolic processGO:0160989.9CYP3A4, CYP2E1
5glutathione metabolic processGO:0067499.8SOD1, G6PD, GSR
6response to hydrogen peroxideGO:0425429.8HBB, SOD1, HP
7superoxide metabolic processGO:0068019.7CYB5R4, SOD1
8drug metabolic processGO:0171449.7CYP3A4, CYP2E1
9positive regulation of cell deathGO:0109429.6HBB, HP
10response to ethanolGO:0454719.6SOD1, CYP2E1, G6PD
11sterol biosynthetic processGO:0161269.4CYB5R1, CYB5R2
12oxidation-reduction processGO:0551148.6CYB5R4, G6PD, HBB, CYP3A4, CYP2E1, CYB5R2
13small molecule metabolic processGO:0442818.2HBB, G6PD, GSR, CYP3A4, CYB5A, CYP2E1

Molecular functions related to Methemoglobinemia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin bindingGO:03049210.0HBB, HP
2monooxygenase activityGO:0044979.7CYP3A4, CYP2E1
3oxygen transporter activityGO:0053449.7HBG2, HBB
4flavin adenine dinucleotide bindingGO:0506609.6CYB5R4, CYB5R3, GSR
5oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygenGO:0167129.6CYP2E1, CYP3A4
6oxygen bindingGO:0198259.3CYP2E1, CYP3A4, HBG2, HBB
7iron ion bindingGO:0055069.3CYP2E1, CYP3A4, HBG2, HBB
8heme bindingGO:0200378.8HBB, HBG2, CYP3A4, CYB5A, CYP2E1, CYB5R4
9cytochrome-b5 reductase activity, acting on NAD(P)HGO:0041288.1CYB5R1, CYB5RL, CYB5R3, CYB5R2, CYB5R4

Products for genes affiliated with Methemoglobinemia

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  • Antibodies
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Sources for Methemoglobinemia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet