PNDM
MCID: PRM030
MIFTS: 61

Permanent Neonatal Diabetes Mellitus (PNDM) malady

Neuronal diseases, Endocrine diseases categories

Summaries for Permanent Neonatal Diabetes Mellitus

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Permanent neonatal diabetes mellitus (pndb) is a type of diabetes that appears within the first 6 months of life and persists throughout life. affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with pndb, it is called dend syndrome. a few individuals with pndb also have an underdeveloped pancreas and may have digestive problems. pndb is caused by mutations in any one of several genes (some of which have not yet been identified) including the kcnj11, abcc8, and ins genes. it may be inherited in an autosomal recessive or autosomal dominant manner. treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases). last updated: 8/24/2012

MalaCards: Permanent Neonatal Diabetes Mellitus, also known as PNDM, is related to neonatal diabetes mellitus and diabetes mellitus. An important gene associated with Permanent Neonatal Diabetes Mellitus is GCK (glucokinase (hexokinase 4)), and among its related pathways are Hepatic ABC Transporters and Development Leptin signaling via PI3K-dependent pathway. The compounds chromium picolinate and meglitinide have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related mouse phenotypes are no phenotypic analysis and endocrine/exocrine gland.

Genetics Home Reference:21 Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.

Wikipedia:63 A newly identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused... more...

Description from OMIM:46 606176

GeneReviews summary for dmn

Aliases & Classifications for Permanent Neonatal Diabetes Mellitus

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
developmental delay - epilepsy - neonatal diabetes:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
permanent neonatal diabetes mellitus:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

permanent neonatal diabetes mellitus 19 42 20 22 21 48
pndm 42 21 48
permanent diabetes mellitus of infancy 19 42
diabetes mellitus, permanent neonatal 46 60
developmental delay, epilepsy, and neonatal diabetes 60
developmental delay - epilepsy - neonatal diabetes 48
dend syndrome 48


External Ids:

OMIM46 606176
ICD10 via Orphanet26 P70.2

Related Diseases for Permanent Neonatal Diabetes Mellitus

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Permanent Neonatal Diabetes Mellitus family:

Abcc8-Related Permanent Neonatal Diabetes Mellitus Gck-Related Permanent Neonatal Diabetes Mellitus
Kcnj11-Related Permanent Neonatal Diabetes Mellitus Pdx1-Related Permanent Neonatal Diabetes Mellitus
Ins-Related Permanent Neonatal Diabetes Mellitus

Diseases related to Permanent Neonatal Diabetes Mellitus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal diabetes mellitus31.5GCK, KCNJ5, KCNJ11, PDX1, ABCC8, INS
2diabetes mellitus31.5GCK, KCNJ11, PDX1, INS, ABCC8, KCNJ5
3pancreatic agenesis30.3PDX1
4pancreatitis30.3INS
5epilepsy syndrome30.3ABCC8, KCNJ11, KCNJ5
6abcc8-related permanent neonatal diabetes mellitus10.4
7gck-related permanent neonatal diabetes mellitus10.4
8kcnj11-related permanent neonatal diabetes mellitus10.4
9pdx1-related permanent neonatal diabetes mellitus10.4
10ins-related permanent neonatal diabetes mellitus10.4
11diabetes mellitus, permanent neonatal, with neurologic features10.4
12diabetic ketoacidosis10.2
13exocrine pancreatic insufficiency10.2
14diabetes mellitus, permanent neonatal, with cerebellar agenesis10.2
15intermediate dend syndrome10.2
16glucagonoma10.0PDX1
17beckwith-wiedemann syndrome10.0ABCC8
18essential hypertension10.0INS
19pituitary adenoma10.0ABCC8
20hypokalemia10.0INS
21hyperaldosteronism10.0KCNJ5
22lymphopenia10.0IDDM2
23coronary heart disease10.0INS
24acute myocardial infarction10.0KCNJ5
25hyperinsulinemic hypoglycemia10.0INS, ABCC8
26type 1 diabetes10.0INS, GCK
27hypertension10.0INS
28familial hyperinsulinism10.0KCNJ11, GCK, ABCC8
29myocardial infarction10.0KCNJ5, PDX1
30hyperammonemia multi-gene panels10.0KCNJ11, ABCC8, GCK
31hyperuricemia10.0GCK, INS
32insulin resistance10.0GCK, ABCC8, INS
33metabolic syndrome x10.0INS, ABCC8, GCK
34adenoma10.0INS, KCNJ5
35ischemia10.0KCNJ5, GCK, ABCC8
36maturity-onset diabetes of the young10.0GCK, KCNJ11, PDX1, INS
37gestational diabetes10.0ABCC8, KCNJ11, GCK, INS
38glucose intolerance10.0KCNJ11, INS, ABCC8, GCK
39hyperglycemia10.0PDX1, ABCC8, GCK, KCNJ11, INS
40hypoglycemia10.0GCK, KCNJ5, INS, ABCC8, KCNJ11
41hyperinsulinism10.0ABCC8, KCNJ5, KCNJ11, INS, GCK
42obesity10.0KCNJ5, KCNJ11, GCK, ABCC8, INS
43insulinoma9.9GCK, KCNJ5, INS, ABCC8, PDX1, KCNJ11
44type 2 diabetes mellitus9.9ABCC8, KCNJ5, KCNJ11, PDX1, IDDM2, GCK

Graphical network of the top 20 diseases related to Permanent Neonatal Diabetes Mellitus:



Diseases related to permanent neonatal diabetes mellitus

Clinical Features for Permanent Neonatal Diabetes Mellitus

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46OMIM
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Clinical features from OMIM:

606176

Clinical synopsis from OMIM:

606176

Drugs & Therapeutics for Permanent Neonatal Diabetes Mellitus

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Permanent Neonatal Diabetes Mellitus

Drug clinical trials:

Search ClinicalTrials for Permanent Neonatal Diabetes Mellitus

Search NIH Clinical Center for Permanent Neonatal Diabetes Mellitus

Search CenterWatch for Permanent Neonatal Diabetes Mellitus

Genetic Tests for Permanent Neonatal Diabetes Mellitus

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20GeneTests, 22GTR
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Genetic tests related to Permanent Neonatal Diabetes Mellitus:

id Genetic test Affiliating Genes
1 Permanent Neonatal Diabetes Mellitus20 22 PDX1

Anatomical Context for Permanent Neonatal Diabetes Mellitus

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32MalaCards
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MalaCards organs/tissues related to Permanent Neonatal Diabetes Mellitus:

32
Pancreas

Animal Models for Permanent Neonatal Diabetes Mellitus or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Permanent Neonatal Diabetes Mellitus:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.2ABCC8, INS, PDX1, KCNJ11
2MP:00053797.5ABCC8, INS, PDX1, GCK, KCNJ11

Publications for Permanent Neonatal Diabetes Mellitus

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50PubMed
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Articles related to Permanent Neonatal Diabetes Mellitus:

(show all 38)
idTitleAuthorsYear
1
Permanent neonatal diabetes mellitus in monozygotic twins achieving low-dose sulfonylurea therapy. (23959658)
2014
2
Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report. (23434183)
2013
3
Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study. (23050777)
2013
4
Changing the Treatment of Permanent Neonatal Diabetes Mellitus from Insulin to Glibenclamide in a 4-Month-Old Infant with KCNJ11 Activating Mutation. (24130952)
2013
5
EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott-Rallison syndrome. (24168455)
2013
6
Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene. (24150202)
2013
7
Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome. (22815030)
2012
8
Permanent neonatal diabetes mellitus. (23569512)
2012
9
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation. (22306677)
2012
10
Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. (21910811)
2012
11
Permanent neonatal diabetes mellitus: same mutation, different glycemic control with sulfonylurea therapy on long-term follow-up. (22672870)
2012
12
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas. (22768671)
2012
13
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. (22060631)
2012
14
A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus. (21823539)
2011
15
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. (21054355)
2011
16
Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene. (21518409)
2011
17
KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients. (21352428)
2011
18
The first case report of sulfonylurea use in a woman with permanent neonatal diabetes mellitus due to KCNJ11 mutation during a high-risk pregnancy. (20466780)
2010
19
Transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a KCNJ11 R201H mutation. (19247925)
2009
20
Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus. (19774848)
2009
21
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. (18451997)
2008
22
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. (19169493)
2008
23
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. (18571549)
2008
24
Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report. (18981553)
2008
25
Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome). (17888143)
2007
26
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). (17317760)
2007
27
Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2. (17491708)
2006
28
Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene. (16816952)
2006
29
Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. (15531505)
2004
30
Permanent neonatal diabetes mellitus manifesting as diabetic ketoacidosis. (14976569)
2003
31
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. (12378186)
2002
32
Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6. (10617703)
2000
33
Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. (10212083)
1999
34
Permanent neonatal diabetes mellitus: epidemiology, mode of presentation, pathogenesis and growth. (10798084)
1999
35
Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. (8506821)
1993
36
Permanent Neonatal Diabetes Mellitus (20301620)
1993
37
Permanent neonatal diabetes mellitus: lack of diabetic complications after a 20-year follow up. (1537364)
1992
38
Permanent neonatal diabetes mellitus: a case report with plasma insulin studies. (1130120)
1975

Genetic Variations for Permanent Neonatal Diabetes Mellitus

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Permanent Neonatal Diabetes Mellitus:

62 (show all 41)
id Symbol AA change Variation ID SNP ID
1ABCC8p.Phe132LeuVAR_029778
2ABCC8p.Leu213ArgVAR_029779
3ABCC8p.Ile1424ValVAR_029787
4ABCC8p.Val86AlaVAR_031354
5INSp.Ala24AspVAR_063723rs80356663
6INSp.His29AspVAR_063724rs121908272
7INSp.Gly32ArgVAR_063725rs80356664
8INSp.Gly32SerVAR_063726rs80356664
9INSp.Leu35ProVAR_063727rs121908273
10INSp.Cys43GlyVAR_063728rs80356666
11INSp.Gly47ValVAR_063730rs80356667
12INSp.Phe48CysVAR_063731rs80356668
13INSp.Arg89CysVAR_063735rs80356669
14INSp.Gly90CysVAR_063736rs80356670
15INSp.Cys96SerVAR_063737rs80356671
16INSp.Cys96TyrVAR_063738rs80356671
17INSp.Ser101CysVAR_063739rs121908276
18INSp.Tyr103CysVAR_063740rs121908277
19INSp.Tyr108CysVAR_063741rs80356672
20KCNJ11p.Phe35LeuVAR_026498
21KCNJ11p.Phe35ValVAR_026499
22KCNJ11p.Arg50ProVAR_026500
23KCNJ11p.Gln52ArgVAR_026501
24KCNJ11p.Val59GlyVAR_026504
25KCNJ11p.Val59MetVAR_026505
26KCNJ11p.Lys170AsnVAR_026508
27KCNJ11p.Lys170ArgVAR_026509
28KCNJ11p.Arg201CysVAR_026511
29KCNJ11p.Arg201HisVAR_026512
30KCNJ11p.Ile296LeuVAR_026514
31KCNJ11p.Glu322LysVAR_026515
32KCNJ11p.Tyr330CysVAR_026516
33KCNJ11p.Phe333IleVAR_026517
34KCNJ11p.His46TyrVAR_031332
35KCNJ11p.Arg50GlnVAR_031333
36KCNJ11p.Gly53AspVAR_031334
37KCNJ11p.Leu164ProVAR_031341
38KCNJ11p.Cys166TyrVAR_031342
39KCNJ11p.Lys170ThrVAR_031343
40KCNJ11p.Arg201LeuVAR_031344
41KCNJ11p.Tyr330SerVAR_031348

Expression for genes affiliated with Permanent Neonatal Diabetes Mellitus

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Permanent Neonatal Diabetes Mellitus

Search GEO for disease gene expression data for Permanent Neonatal Diabetes Mellitus.

Pathways for genes affiliated with Permanent Neonatal Diabetes Mellitus

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Sources:
51QIAGEN, 12EMD Millipore, 53Reactome, 49PharmGKB, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Permanent Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6INS, GCK
2
Development Leptin signaling via PI3K-dependent pathway
Hide members
9.4ABCC8, KCNJ11
39.4ABCC8, KCNJ11
49.3KCNJ11, KCNJ5
59.2INS, PDX1
6
Hide members
9.0KCNJ11, INS, ABCC8
78.9KCNJ5, KCNJ11, ABCC8
8
Hide members
8.9KCNJ5, KCNJ11, ABCC8
98.9ABCC8, KCNJ11, KCNJ5
10
Hide members
8.9ABCC8, KCNJ11, KCNJ5
11
Hide members
8.8INS, PDX1, GCK
127.8ABCC8, INS, PDX1, GCK, KCNJ11
13
Hide members
7.8KCNJ11, GCK, PDX1, INS, ABCC8
147.8KCNJ11, GCK, PDX1, INS, ABCC8

Compounds for genes affiliated with Permanent Neonatal Diabetes Mellitus

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Permanent Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

(show top 50)    (show all 53)
idCompoundScoreTop Affiliating Genes
1chromium picolinate4410.0INS, GCK
2meglitinide4410.0ABCC8, INS
3mitiglinide44 1111.0INS, ABCC8
4minoxidil44 28 1112.0KCNJ5, ABCC8
5chlorpropamide44 1110.9ABCC8, INS
6benzopyran449.9KCNJ5, ABCC8
7dicyandiamide449.9ABCC8, KCNJ5
8pinacidil449.9KCNJ5, ABCC8
9cibenzoline449.8KCNJ11, ABCC8
10aicar44 11 2411.8INS, GCK
11phentolamine28 44 1111.8KCNJ5, ABCC8
12levosimendan44 1110.7KCNJ11, KCNJ5
13p1075599.6KCNJ5, KCNJ11
14levcromakalim599.6KCNJ5, KCNJ11
15tertiapin-q599.6KCNJ5, KCNJ11
16proglucagon449.5GCK, PDX1
17glipizide44 1110.5ABCC8, INS, KCNJ5
18nateglinide44 49 1111.5KCNJ5, INS, ABCC8
19glycogen44 2410.4ABCC8, INS, GCK
20gliclazide44 49 1111.4KCNJ11, INS, ABCC8
21nicorandil44 2810.4KCNJ5, KCNJ11, ABCC8
22mgadp449.4ABCC8, KCNJ11, KCNJ5
23cromakalim44 2810.3ABCC8, KCNJ11, KCNJ5
24Glyburide119.3ABCC8, KCNJ11, KCNJ5
25nicotinamide44 1110.3INS, PDX1
26preproinsulin449.2GCK, PDX1, INS
27i-app449.2INS, PDX1, GCK
28fatty acid449.2ABCC8, INS, GCK
29incretin449.2GCK, PDX1, INS
30streptozotocin449.2INS, PDX1, GCK
31lactate449.1INS, GCK, KCNJ5
32metformin44 49 1111.0KCNJ11, GCK, INS, ABCC8
33repaglinide44 49 1110.9KCNJ5, KCNJ11, INS, ABCC8
34glimepiride44 49 1110.9ABCC8, INS, KCNJ11, KCNJ5
35glibenclamide44 28 49 5911.9KCNJ5, KCNJ11, INS, ABCC8
36potassium44 11 2410.9KCNJ5, KCNJ11, GCK, ABCC8
37magnesium44 11 2410.9KCNJ5, KCNJ11, GCK, ABCC8
38arginine448.9ABCC8, INS, GCK, KCNJ11
39lysine448.8KCNJ5, KCNJ11, ABCC8
40adp44 28 2410.8KCNJ5, KCNJ11, GCK, ABCC8
41atp44 289.7KCNJ5, KCNJ11, GCK, ABCC8
42c-peptide448.6KCNJ11, GCK, PDX1, INS
43diazoxide44 59 28 1111.5KCNJ5, KCNJ11, GCK, INS, ABCC8
44tolbutamide44 49 28 1111.5KCNJ5, KCNJ11, GCK, INS, ABCC8
45glutamate448.5KCNJ5, KCNJ11, GCK, INS, ABCC8
46lipid448.4ABCC8, INS, GCK, KCNJ5
47calcium44 49 11 2410.8KCNJ5, KCNJ11, GCK, PDX1, ABCC8
48katp447.7ABCC8, KCNJ5, KCNJ11, GCK, PDX1, INS
49sulfonylurea447.7KCNJ5, KCNJ11, GCK, PDX1, INS, ABCC8
50glucose447.7KCNJ5, KCNJ11, GCK, PDX1, INS, ABCC8

GO Terms for genes affiliated with Permanent Neonatal Diabetes Mellitus

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16Gene Ontology
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Cellular components related to Permanent Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080768.9ABCC8, KCNJ11, KCNJ5

Biological processes related to Permanent Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of gluconeogenesisGO:0457219.8GCK, INS
2positive regulation of glycolysisGO:0458219.8INS, GCK
3positive regulation of glycogen biosynthetic processGO:0457259.8GCK, INS
4detection of glucoseGO:0515949.5GCK, PDX1
5glucose transportGO:0157589.5INS, GCK
6potassium ion transportGO:0068139.5ABCC8, KCNJ5
7potassium ion transmembrane transportGO:0718059.5ABCC8, KCNJ11
8positive regulation of insulin secretionGO:0320249.4PDX1, GCK
9energy reserve metabolic processGO:0061129.2ABCC8, INS, KCNJ11
10endocrine pancreas developmentGO:0310189.1INS, PDX1, GCK
11glucose homeostasisGO:0425939.1INS, PDX1, GCK
12synaptic transmissionGO:0072688.9KCNJ5, KCNJ11, ABCC8
13regulation of insulin secretionGO:0507968.9ABCC8, INS, GCK, KCNJ11
14glucose metabolic processGO:0060068.8KCNJ11, PDX1, INS
15small molecule metabolic processGO:0442818.3ABCC8, INS, GCK, KCNJ11

Molecular functions related to Permanent Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.4ABCC8, KCNJ11

Products for genes affiliated with Permanent Neonatal Diabetes Mellitus

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Permanent Neonatal Diabetes Mellitus

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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