MCID: HYP050
MIFTS: 59

Hyperinsulinemic Hypoglycemia malady

Summaries for Hyperinsulinemic Hypoglycemia

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Hyperinsulinemic hypoglycemia describes the condition and effects of low blood glucose caused by... more...

MalaCards: Hyperinsulinemic Hypoglycemia, also known as nesidioblastosis, is related to hypoglycemia and pancreatitis. An important gene associated with Hyperinsulinemic Hypoglycemia is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are ATP sensitive Potassium channels and Reversible Hydration of Carbon Dioxide. The compounds mannitol and minoxidil have been mentioned in the context of this disorder. Affiliated tissues include pancreas, brain and pancreatic islet, and related mouse phenotypes are liver/biliary system and cellular.

Disease Ontology:8 A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.

Description from OMIM:46 606762, 610021, 602485, 609975, 256450 609968, 601820 more

Aliases & Classifications for Hyperinsulinemic Hypoglycemia

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 22GTR, 56SNOMED-CT, 46OMIM, 34MeSH, 39NCIt
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Aliases & Descriptions:

hyperinsulinemic hypoglycemia 8 10
nesidioblastosis 8 44 60
islet cell hyperplasia 8 22
persistent hyperinsulinemia hypoglycemia of infancy 8


Related Diseases for Hyperinsulinemic Hypoglycemia

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17GeneCards, 18GeneDecks
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Diseases in the Hyperinsulinemic Hypoglycemia, Familial, 1 family:

hyperinsulinemic hypoglycemia Hyperinsulinemic Hypoglycemia Familial 2
Hyperinsulinemic Hypoglycemia Familial 3 Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 5

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

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia31.9PPY, SST, ABCC8, GLUD1, INSR, SLC16A1
2pancreatitis31.1SST, PPY
3familial hyperinsulinism30.8ABCC8, GLUD1, GCK, KCNJ11, HADH
4insulinoma30.6KCNJ5, KCNJ11, GCK, PDX1, MEN1, SST
5maturity-onset diabetes of the young30.5KCNJ11, HNF4A, PDX1, GCK
6diabetes mellitus30.5GCK, PDX1, KCNJ11, PPY, SST, INSR
7hyperinsulinism-hyperammonemia syndrome30.4GLUD1
8diarrhea30.2SST, PPY
93-hydroxyacyl-coa dehydrogenase deficiency30.1HADH
10beckwith-wiedemann syndrome30.1ABCC8
11liver cirrhosis30.1INSR, GCK
12hepatitis30.1GLUD1, HNF4A
13gestational diabetes30.1ABCC8, HNF4A, KCNJ11, GCK, INSR
14glucose intolerance30.1KCNJ11, GCK, HNF4A, INSR, ABCC8
15neuroendocrine tumor30.1MEN1, SST, KRT19, ENO2
16obesity30.1ABCC8, INSR, KCNJ5, KCNJ11, GCK, HNF4A
17type 2 diabetes mellitus30.1INSR, KCNJ5, KCNJ11, HNF4A, GCK, PDX1
18hyperinsulinism30.1GCK, KCNJ5, SST, KCNJ11, HNF4A, ABCC8
19vipoma29.9SST, MEN1
20gastrinoma29.9ENO2, SST, MEN1
21thyroid medullary carcinoma29.9MEN1, SST, ENO2
22adenoma29.8ENO2, KRT19, INSR, SST, KCNJ5, HNF4A
23exercise-induced hyperinsulinemic hypoglycemia10.7
24hyperinsulinemic hypoglycemia familial 210.5
25hyperinsulinemic hypoglycemia, familial, 110.5
26hyperinsulinemic hypoglycemia familial 310.5
27hyperinsulinemic hypoglycemia, familial, 510.4
28gastrointestinal stromal tumor10.3
29hyperinsulinemic hypoglycemia, familial, 410.3
30adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia10.3
31islet cell tumor10.2
32secretory diarrhea10.1
33hypermethioninemia10.1
34tyrosinemia10.1
35sotos syndrome10.1
36cushing's syndrome10.1
37usher syndrome10.1
38costello syndrome10.1
39neurofibrosarcoma10.1
40west syndrome10.1
41retinitis pigmentosa10.1
42microcephaly10.1
43acquired immunodeficiency syndrome10.1
44hypertrophic cardiomyopathy10.1
45morbid obesity10.1
46duodenitis10.1
47adult syndrome10.1
48dumping syndrome10.1
49mumps10.1
50congenital disorder of glycosylation10.1

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia:



Diseases related to hyperinsulinemic hypoglycemia

Clinical Features for Hyperinsulinemic Hypoglycemia

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46OMIM
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Clinical features from OMIM:

606762,610021,602485,609975,256450,609968,601820

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hyperinsulinemic Hypoglycemia

Drug clinical trials:

Search ClinicalTrials for Hyperinsulinemic Hypoglycemia

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia

Search CenterWatch for Hyperinsulinemic Hypoglycemia

Genetic Tests for Hyperinsulinemic Hypoglycemia

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22GTR
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Genetic tests related to Hyperinsulinemic Hypoglycemia:

id Genetic test Affiliating Genes
1 Islet Cell Hyperplasia22

Anatomical Context for Hyperinsulinemic Hypoglycemia

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32MalaCards
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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

32
Pancreas, Brain, Pancreatic islet, Spleen, Liver, B cells

Animal Models for Hyperinsulinemic Hypoglycemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1GCK, HNF4A, PDX1, FOXA2, MEN1, INSR
2MP:00053848.8PDX1, FOXA2, HADH, MEN1, INSR, KRT19
3MP:00053798.7SEL1L, KCNJ11, GCK, PDX1, FOXA2, HADH
4MP:00053768.4KCNJ11, GCK, HNF4A, PDX1, FOXA2, HADH
5MP:00053788.4FOXA2, PDX1, HNF4A, GCK, KCNJ11, HADH

Publications for Hyperinsulinemic Hypoglycemia

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50PubMed
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Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50)    (show all 220)
idTitleAuthorsYear
1
Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management. (23384201)
2013
2
Restoration of self-awareness of hypoglycemia in adults with long-standing type 1 diabetes: hyperinsulinemic-hypoglycemic clamp substudy results from the HypoCOMPaSS trial. (24130355)
2013
3
Functional imaging in hyperinsulinemic hypoglycemia after gastric bypass surgery for morbid obesity. (22466332)
2012
4
GLP-1 and glucagon secretion from a pancreatic neuroendocrine tumor causing diabetes and hyperinsulinemic hypoglycemia. (22774207)
2012
5
Persistent hyperinsulinemic hypoglycemia of infancy. (22876564)
2012
6
Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation. (20042013)
2010
7
Persistent hyperinsulinemic hypoglycemia with left ventricular hypertrophy and dysrhythmia: a case report. (20450269)
2010
8
Persistent hyperinsulinemic hypoglycemia of infancy associated with congenital neuroblastoma: a case report. (20572382)
2010
9
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. (20164212)
2010
10
Laparoscopic near-total pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy: report of two cases. (19432529)
2010
11
Successful medical management of status post-Roux-en-Y-gastric-bypass hyperinsulinemic hypoglycemia. (19551453)
2009
12
Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. (19165222)
2009
13
Electrocardiographic alterations during hyperinsulinemic hypoglycemia in healthy subjects. (18426434)
2008
14
Diffuse nesidioblastosis as a cause of hyperinsulinemic hypoglycemia in adults: a diagnostic and therapeutic challenge. (17263973)
2007
15
Insulin autoimmune syndrome (Hirata disease) as differential diagnosis in patients with hyperinsulinemic hypoglycemia. (16670629)
2006
16
Hyperinsulinemic hypoglycemia due to adult nesidioblastosis in insulin-dependent diabetes. (17131493)
2006
17
Endogenous hyperinsulinemic hypoglycemia: diagnostic strategies, predictive features of malignancy and long-term survival. (17033255)
2006
18
Asymptomatic hyperinsulinemic hypoglycemia after gastric banding. (16382076)
2005
19
Increasing serum betahydroxybutyrate concentrations during the 72-hour fast: evidence against hyperinsulinemic hypoglycemia. (15886243)
2005
20
The surgical management of congenital hyperinsulinemic hypoglycemia in infancy. (15017535)
2004
21
Hyperinsulinemic hypoglycemia in adults. (15122101)
2004
22
Nesidioblastosis associated with hyperinsulinemic hypoglycemia in adults: review of the literature. (15581742)
2004
23
Persistent hyperinsulinemic hypoglycemia of infancy - nesidioblastosis. (15321046)
2004
24
Persistent hyperinsulinemic hypoglycemia of infancy in 38 children. (12939679)
2003
25
Neonatal hyperinsulinemic hypoglycemia. Two case reports. (12131869)
2002
26
Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy. (11912517)
2002
27
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy. (11226335)
2001
28
Focal or diffuse lesions in persistent hyperinsulinemic hypoglycemia of infancy: concerns about interpretation of intraoperative frozen sections. (11178629)
2001
29
The focal form of persistent hyperinsulinemic hypoglycemia of infancy. (11272187)
2001
30
Histologic findings in persistent hyperinsulinemic hypoglycemia of infancy: Australian experience. (11000331)
2000
31
Characterization of genes encoding the pancreatic beta-cell ATP-sensitive K+ channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients. (11228046)
2000
32
Islet cell hyperplasia of the pancreas presenting as hyperinsulinemic hypoglycemia in an adult. (10957903)
2000
33
Adult hyperinsulinemic hypoglycemia not caused by an insulinoma: a report of two cases. (10881742)
2000
34
Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. (10993895)
2000
35
The molecular basis of persistent hyperinsulinemic hypoglycemia of infancy and its pathologic substrates. (10664155)
2000
36
Successful therapy with calcium channel blocker (nifedipine) in persistent neonatal hyperinsulinemic hypoglycemia of infancy. (10614546)
1999
37
Focal and Diffuse Beta Cell Changes in Persistent Hyperinsulinemic Hypoglycemia of Infancy. (12114766)
1999
38
Hyperinsulinemic hypoglycemia of infancy. Recent insights into ATP-sensitive potassium channels, sulfonylurea receptors, molecular mechanisms, and treatment. (10609115)
1999
39
Nesidioblastosis with hyperinsulinemic hypoglycemia in adults: report of two cases. (10211570)
1999
40
Mumps infection complicated by transient hyperinsulinemic hypoglycemia. (9109149)
1997
41
Discordance for hyperinsulinemic hypoglycemia in monozygotic twins. (7776078)
1995
42
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. (7716548)
1995
43
Persistent hyperinsulinemic hypoglycemia due to nesidiodysplasia in a neonate. (7912588)
1994
44
Hypertrophic cardiomyopathy after prolonged diazoxide therapy for hyperinsulinemic hypoglycemia. (2040926)
1991
45
Relevance of endocrine pancreas nesidioblastosis to hyperinsulinemic hypoglycemia. (2649328)
1989
46
Nesidioblastosis and intermediate cells in the pancreas of patients with hyperinsulinemic hypoglycemia. (2858937)
1985
47
Surgical treatment of idiopathic hyperinsulinemic hypoglycemia in children. First successful subtotal pancreatectomy with preservation of spleen reported by Evarts A. Graham (1934). (6387297)
1984
48
Surgical management of hyperinsulinemic hypoglycemia in children. (6143550)
1984
49
Nesidiodysplasia and nesidioblastosis of infancy: structural and functional correlations with the syndrome of hyperinsulinemic hypoglycemia. (6149528)
1983
50
Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy. (6987458)
1980

Genetic Variations for Hyperinsulinemic Hypoglycemia

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Expression for genes affiliated with Hyperinsulinemic Hypoglycemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperinsulinemic Hypoglycemia

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia.

Pathways for genes affiliated with Hyperinsulinemic Hypoglycemia

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 49PharmGKB, 51QIAGEN, 4Cell Signaling Technology
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Compounds for genes affiliated with Hyperinsulinemic Hypoglycemia

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44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 24HMDB
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Compounds related to Hyperinsulinemic Hypoglycemia according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1mannitol44 1111.6GCK
2minoxidil44 28 1112.6ABCC8, KCNJ5
3cibenzoline4410.5KCNJ11, ABCC8
4nicorandil44 2811.5ABCC8, KCNJ11, KCNJ5
5mgadp4410.5KCNJ11, KCNJ5, ABCC8
6benzopyran4410.5ABCC8, KCNJ5
7cromakalim44 2811.5KCNJ11, ABCC8, KCNJ5
8preproinsulin4410.4PDX1, GCK, INSR
9gliclazide44 49 1112.4KCNJ11, ABCC8, INSR
10repaglinide44 49 1112.4ABCC8, KCNJ11, KCNJ5
11glipizide44 1111.4ABCC8, SST, KCNJ5
12dicyandiamide4410.4ABCC8, KCNJ5
13nateglinide44 49 1112.4KCNJ5, ABCC8, SLC16A1
14Glyburide1110.4KCNJ11, KCNJ5, ABCC8
15glimepiride44 49 1112.4ABCC8, KCNJ5, KCNJ11, INSR
16metformin44 49 1112.3GCK, INSR, KCNJ11, ABCC8
17chromium picolinate4410.3GCK, INSR
18glibenclamide44 28 49 5913.3KCNJ5, ABCC8, KCNJ11, INSR
19streptozotocin4410.2PDX1, INSR, SST, GCK
20Nicotinamide-Adenine-Dinucleotide1110.2GLUD1, HADH, GLUD2
21pinacidil4410.1ABCC8, KCNJ5
22citrate4410.1INSR, GLUD1, GCK, SLC16A1
23sulfonylurea4410.1GLUD1, PDX1, GCK, KCNJ5, KCNJ11, ABCC8
24tolbutamide44 49 28 1113.0KCNJ5, GLUD1, GCK, KCNJ11, SST, ABCC8
25nadh44 11 2412.0GCK, SLC16A1, HADH, GLUD2, GLUD1
26potassium44 11 2411.9KCNJ5, KCNJ11, GCK, GLUD1, ENO2, ABCC8
27phosphoenolpyruvate44 1110.9GLUD1, KRT19, GCK, HNF4A, ENO2
28diazoxide44 59 28 1112.9GCK, SST, GLUD1, HADH, KCNJ11, ABCC8
29alpha-ketoisocaproate449.9GCK, GLUD1
30glycerol44 11 2411.8HNF4A, GCK, INSR, GLUD1
31glutamine449.8GLUD1, ENO2, GCK, HNF4A, KCNJ11, INSR
32acetylcholine44 49 28 11 2413.8GLUD1, KCNJ5, SST, INSR, ENO2
33fatty acid449.8GCK, GLUD1, SLC16A1, HNF4A, FOXA2, HADH
34adp44 28 2411.8KCNJ5, KCNJ11, GCK, GLUD1, ABCC8, GLUD2
35c-peptide449.8SST, FOXA2, PDX1, INSR, KCNJ11, GCK
36katp449.8GCK, KCNJ5, GLUD1, KCNJ11, PDX1, FOXA2
37arginine449.7KCNJ11, HNF4A, SST, INSR, ABCC8, GLUD1
38aspartate449.7ABCC8, KRT19, ENO2, INSR, GLUD2, GLUD1
39leucine449.6HADH, HNF4A, KCNJ11, GCK, GLUD2, ENO2
40lactate449.6SLC16A1, GLUD1, SST, ENO2, GCK, KCNJ5
41glycogen44 2410.6HNF4A, GCK, FOXA2, ABCC8, INSR, ENO2
42pyruvate449.6HNF4A, GCK, KRT19, PDX1, ENO2, SLC16A1
43thymidine44 2410.6INSR, KRT19, ENO2, MEN1, HNF4A, PDX1
44testosterone44 59 11 2412.5KCNJ5, SST, ABCC8, INSR, HNF4A, ENO2
45dexamethasone44 49 28 1112.5INSR, GCK, HNF4A, SST, GLUD1, ENO2
46atp44 2810.3SLC16A1, KRT19, GLUD1, HNF4A, GCK, KCNJ11
47serine449.1PDX1, KRT19, ABCC8, HNF4A, INSR, GLUD1
48glutamate449.0HNF4A, HADH, GLUD1, GLUD2, INSR, ABCC8
49calcium44 49 11 2412.0SLC16A1, ENO2, KCNJ5, KCNJ11, KRT19, ABCC8
50glucose448.6KCNJ11, INSR, GCK, HNF4A, PDX1, FOXA2

GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.8ABCC8, KCNJ11, KCNJ5
2mitochondrionGO:0057399.6SLC16A1, GLUD2, GLUD1, HADH, GCK, KCNJ11

Biological processes related to Hyperinsulinemic Hypoglycemia according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:05159410.4GCK, PDX1
2glutamate catabolic processGO:00653810.4GLUD2, GLUD1
3glutamate biosynthetic processGO:00653710.3GLUD2, GLUD1
4exocrine pancreas developmentGO:03101710.3PDX1, INSR
5positive regulation of glycolysisGO:04582110.3INSR, GCK
6positive regulation of insulin secretionGO:03202410.3GLUD1, PDX1, GCK
7positive regulation of glycogen biosynthetic processGO:04572510.2GCK, INSR
8regulation of insulin secretionGO:05079610.1KCNJ11, GCK, HNF4A, ABCC8
9signal transduction involved in regulation of gene expressionGO:02301910.1FOXA2, HNF4A
10endocrine pancreas developmentGO:03101810.1GCK, HNF4A, PDX1, FOXA2
11glucose homeostasisGO:0425939.9INSR, FOXA2, PDX1, HNF4A, GCK
12glucose metabolic processGO:0060069.8ENO2, PDX1, KCNJ11
13small molecule metabolic processGO:0442819.5KCNJ11, GCK, HADH, GLUD1, ABCC8, SLC16A1
14carbohydrate metabolic processGO:0059759.5GCK, INSR, ABCC8, ENO2

Molecular functions related to Hyperinsulinemic Hypoglycemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NAD+ bindingGO:07040310.2GLUD1, HADH
2glutamate dehydrogenase [NAD(P)+] activityGO:00435310.2GLUD1, GLUD2
3ADP bindingGO:04353110.1GLUD2, GLUD1, GCK
4glutamate dehydrogenase (NAD+) activityGO:00435210.1GLUD1, GLUD2
5leucine bindingGO:0707289.9GLUD2, GLUD1

Products for genes affiliated with Hyperinsulinemic Hypoglycemia

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Sources for Hyperinsulinemic Hypoglycemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet