MCID: ISL003
MIFTS: 45

Isolated Growth Hormone Deficiency malady

Endocrine diseases category

Aliases & Classifications for Isolated Growth Hormone Deficiency

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Isolated Growth Hormone Deficiency, Aliases & Descriptions:

Name: Isolated Growth Hormone Deficiency 21
Isolated Somatotropin Deficiency Disorder 21
Isolated Human Growth Hormone Deficiency 21
Dwarfism, Growth Hormone Deficiency 21
Growth Hormone Deficiency Dwarfism 21
Isolated Somatotropin Deficiency 21
 
Isolated Hgh Deficiency 21
Isolated Gh Deficiency 21
Dwarfism, Pituitary 21
Dwarfism Pituitary 43
Pituitary Dwarfism 60


Classifications:

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


Summaries for Isolated Growth Hormone Deficiency

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Genetics Home Reference:21 Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.

MalaCards based summary: Isolated Growth Hormone Deficiency, also known as isolated somatotropin deficiency disorder, is related to growth hormone deficiency, isolated, type ib and optic nerve hypoplasia. An important gene associated with Isolated Growth Hormone Deficiency is GHRHR (growth hormone releasing hormone receptor), and among its related pathways are Transcription factors in neurogenesis and Peptide hormone metabolism. The compounds mk-0677 and somatuline have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and thyroid, and related mouse phenotypes are taste/olfaction and craniofacial.

Related Diseases for Isolated Growth Hormone Deficiency

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Diseases related to Isolated Growth Hormone Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1growth hormone deficiency, isolated, type ib31.6GH1, GHRHR
2optic nerve hypoplasia31.0PAX6
3growth hormone deficiency30.9GHR, GHRH, HESX1, POU1F1, SOX3, IGF1
4agammaglobulinemia30.9BTK, CD40LG, CD79A
5hyperprolactinemia30.7IGF1, GHRH, GH1
6hypoglycemia30.6IGF1, GHRH, GH1, GHR
7hypogonadism30.5GH1, POU1F1, IGF1
8anorexia nervosa30.2GH1, GHR, GHRH, IGF1
9pituitary hypoplasia30.1OTX2, GHRHR, GHRH, HESX1, POU1F1, LHX4
10laron dwarfism30.0IGF1, GHR, GH1
11dwarfism30.0GHRHR, GHRH, IGF1, GHR, POU1F1, GH1
12acromegaly29.9GHR, IGF1, GHRHR, GH1, GHRH, GHSR
13obesity29.8GHSR, HESX1, GHRH, IGF1, GHR, GH1
14pituitary hormone deficiency, combined, 229.4IGF1, LHX4, GHR, POU1F1, GH1, HESX1
15hypopituitarism29.4GH1, GHR, GHRH, HESX1, POU1F1, SOX3
16agammaglobulinemia and isolated hormone deficiency10.7
17growth hormone deficiency, isolated, type ia10.7
18growth hormone deficiency, isolated, type ii10.6
19mental retardation, x-linked, with isolated growth hormone deficiency10.6
20x-linked intellectual disability with isolated growth hormone deficiency10.5
21anophthalmia/microphthalmia10.5OTX2
22dysentery10.4CD79A
23isolated growth hormone deficiency, type ib, ghrhr-related10.4
24isolated growth hormone deficiency, type ib, gh1-related10.4
25vipoma10.4GH1, GHRH
26q fever10.4CD79A
27syphilis10.4CD79A
28rabson-mendenhall syndrome10.4IGF1
29macroglobulinemia10.4CD79A
30cryptosporidiosis10.4CD79A
31cushing's syndrome10.4GHRH
32gigantism10.4GH1, IGF1
33glucagonoma10.4GH1, GHRH
34carcinoid syndrome10.3GH1, GHRH, GHSR
35insulin-like growth factor i10.3
36thyroiditis10.3
37mental retardation10.3
38pituitary gland disease10.3GH1, IGF1
39pituitary gigantism10.3GH1, IGF1
40insulin-like growth factor 1 resistance to10.3GH1, IGF1
41septooptic dysplasia10.3HESX1, GH1, POU1F1
42gonadal disease10.3IGF1, GH1
43acth deficiency10.3POU1F1, HESX1, GH1
44idiopathic juvenile osteoporosis10.3IGF1, GH1
45multiple endocrine neoplasia 110.3GHRH, GHRHR
46anophthalmia plus syndrome10.3PAX6, OTX2, HESX1
47craniopharyngioma10.2IGF1, GH1
48prader-willi syndrome10.2GHSR, GH1, IGF1
49polycystic ovary syndrome10.2GHRH, GH1, IGF1
50increased responsiveness to growth hormone (3) growth hormone insensitivity, partial10.2GHR, GHSR

Graphical network of the top 20 diseases related to Isolated Growth Hormone Deficiency:



Diseases related to isolated growth hormone deficiency

Symptoms for Isolated Growth Hormone Deficiency

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Drugs & Therapeutics for Isolated Growth Hormone Deficiency

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Drug clinical trials:

Search ClinicalTrials for Isolated Growth Hormone Deficiency

Search NIH Clinical Center for Isolated Growth Hormone Deficiency

Genetic Tests for Isolated Growth Hormone Deficiency

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Anatomical Context for Isolated Growth Hormone Deficiency

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MalaCards organs/tissues related to Isolated Growth Hormone Deficiency:

31
Pituitary, Bone, Thyroid, Testes, Uterus, Hypothalamus

Animal Models for Isolated Growth Hormone Deficiency or affiliated genes

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Publications for Isolated Growth Hormone Deficiency

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Articles related to Isolated Growth Hormone Deficiency:

(show top 50)    (show all 182)
idTitleAuthorsYear
1
Decreased retinal nerve fiber layer thickness in patients with congenital isolated growth hormone deficiency. (24803154)
2014
2
Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation with Hypoglycaemia. (25226297)
2014
3
Molecular genetic studies in Isolated Growth Hormone Deficiency (IGHD). (23436191)
2013
4
Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency. (23565410)
2012
5
Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD). (22016154)
2012
6
Comparison of response to 2-years' growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observational studies. (22788856)
2012
7
Is the growth outcome of children with idiopathic short stature and isolated growth hormone deficiency following treatment with growth hormone and a luteinizing hormone-releasing hormone agonist superior to that obtained by GH alone? (23155689)
2012
8
Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls. (20190537)
2010
9
Genetic causes and treatment of isolated growth hormone deficiency-an update. (20852587)
2010
10
Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. (19417035)
2009
11
Characterization of GH-1 mutations in children with isolated growth hormone deficiency in the Turkish population. (20020582)
2009
12
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. (18554279)
2008
13
Isolated growth hormone deficiency: clinical entity? (19020379)
2008
14
Transient, isolated growth hormone deficiency after a BB gunshot wound. (17396434)
2007
15
Mutant and misfolded human growth hormone is rapidly degraded through the proteasomal degradation pathway in a cellular model for isolated growth hormone deficiency type II. (17927666)
2007
16
Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. (17785368)
2007
17
Thyroid morphology and function in adults with untreated isolated growth hormone deficiency. (16394080)
2006
18
Adult height in patients treated for isolated growth hormone deficiency: role of birth weight. (15767761)
2005
19
A mouse with targeted ablation of the growth hormone-releasing hormone gene: a new model of isolated growth hormone deficiency. (15155578)
2004
20
Isolated growth hormone deficiency in Chilean patients: clinical and molecular analysis. (14594175)
2003
21
A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. (12574219)
2003
22
Familial isolated growth hormone deficiency: genetics and pathophysiology. (12201208)
2002
23
Isolated growth hormone deficiency and the GH-1 gene: update 2002. (12435888)
2002
24
New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency. (12510984)
2002
25
A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency. (11914025)
2001
26
Isolated growth hormone deficiency in children and adolescents. (11529396)
2001
27
Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. (10678654)
2000
28
Prevalence of GH-1 gene deletion in patients with isolated growth hormone deficiency in Japan. GH Gene Study Group. (10943739)
2000
29
MR findings in hereditary isolated growth hormone deficiency. (9367326)
1997
30
Hexarelin, a growth hormone-releasing peptide, discloses protectant activity against cardiovascular damage in rats with isolated growth hormone deficiency. (9534309)
1997
31
Regulation of postnatal intestinal maturation by growth hormone: studies in rats with isolated growth hormone deficiency. (8798252)
1996
32
Isolated growth hormone deficiency: testing the little mouse hypothesis in man and exclusion of mutations within the extracellular domain of the growth hormone-releasing hormone receptor. (8618801)
1995
33
Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype. (7957420)
1994
34
Analysis of human growth hormone gene 5' sequences in isolated growth hormone deficiency patients. (8151648)
1994
35
Detection of growth hormone gene deletions by PCR of the hGH-N gene in isolated growth hormone deficiency. (8268930)
1993
36
Treatment of isolated growth hormone deficiency type IA due to GH-I gene deletion with recombinant human insulin-like growth factor I. (7509217)
1993
37
Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism. (8335020)
1993
38
Hypothalamo-pituitary axis by magnetic resonance imaging in isolated growth hormone deficiency patients born by normal delivery. (1740501)
1992
39
Combined treatment with growth hormone and gonadotropin-releasing hormone analogues in children with isolated growth hormone deficiency. (1449042)
1992
40
The effects of treatment combining an agonist of gonadotropin-releasing hormone with growth hormone in pubertal patients with isolated growth hormone deficiency. (2524948)
1989
41
The catecholamine response to hypoglycemia in children with isolated growth hormone deficiency syndromes and multiple pituitary hormone defects. (3540823)
1986
42
Low plasma norepinephrine responses to acute hypoglycemia in children with isolated growth hormone deficiency. (6384256)
1984
43
Acquired refractoriness to growth hormone in a patient with isolated growth hormone deficiency: growth and plasma somatomedin-C response to high-dose growth hormone therapy. (6539376)
1984
44
Phenotypic heterogeneity in familial isolated growth hormone deficiency type I-A. (6327759)
1984
45
Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia. (6846278)
1983
46
Transient impairment or delay of urinary trihydroxypregnanone (THS) response to metyrapone in boys with delayed adolescence and in patients with isolated growth hormone deficiency. (7058680)
1982
47
Effect of hGH on head circumference and IQ in isolated growth hormone deficiency. (7249999)
1981
48
Familial isolated growth hormone deficiency. (7307312)
1981
49
Aarskog syndrome with isolated growth hormone deficiency. (7227381)
1981
50
Histological and ultrastructural studies in isolated growth hormone deficiency. (4749447)
1973

Variations for Isolated Growth Hormone Deficiency

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Expression for genes affiliated with Isolated Growth Hormone Deficiency

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Search GEO for disease gene expression data for Isolated Growth Hormone Deficiency.

Pathways for genes affiliated with Isolated Growth Hormone Deficiency

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Pathways related to Isolated Growth Hormone Deficiency according to GeneCards Suite gene sharing:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5IGF1, GH1, PAX6
2
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
9.4CD40LG, BTK, CD79A
39.4BTK, CD79A, CD40LG
4
Show member pathways
9.4IGF1, GH2, GHRH, GH1
5
Show member pathways
9.4GHRH, IGF1, GH2, GH1
6
Show member pathways
9.4GHRH, GH1, GH2, IGF1
7
Show member pathways
9.4GHRHR, GH2, GH1, BTK, GHRH
89.4GHR, IGF1, GH1
99.2GH1, CSH1, GH2, GHR
10
Show member pathways
Type III interferon signaling36
9.2GH2, CSH1, GH1, GHR
11
Show member pathways
9.2GHR, GH2, GH1, CSH1
12
Show member pathways
9.2CSH1, GH1, GHR, GH2
13
Show member pathways
9.2IGF1, GH2, GH1, BTK, GHRH
14
Show member pathways
9.2IGF1, BTK, GHRH, GH1, GH2
15
Show member pathways
9.2GHRH, IGF1, GH2, GH1, BTK
16
Show member pathways
9.0GHR, BTK, CSH1, GH1, GH2
17
Show member pathways
8.8GH2, GHR, CD40LG, GH1, BTK
188.8IGF1, GHR, GH2, GH1, CSH1
19
Show member pathways
8.8GHRH, GH1, GH2, BTK, CD79A, IGF1
20
Show member pathways
8.8IGF1, GH2, BTK, GH1, CD79A, GHRH
21
Show member pathways
8.7GHRH, IGF1, BTK, GH1, GH2, GHR
22
Show member pathways
8.6SOX3, BTK, GH1, GH2, GHRH, PAX6
23
Show member pathways
8.6GHSR, GHR, GHRHR, GH2, GH1, CSH1
24
Show member pathways
8.5BTK, GH1, IGF1, GH2, CD79A, GHR
25
Show member pathways
8.2GHR, IGF1, GHRH, GHRHR, GH2, CSH1

Compounds for genes affiliated with Isolated Growth Hormone Deficiency

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Compounds related to Isolated Growth Hormone Deficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1mk-067743 2811.2GHSR, IGF1
2somatuline4310.1GH1, IGF1
3pyridostigmine43 1211.0IGF1, GHRH, GH1
4acipimox43 2811.0IGF1, GH1, GHRH
5pirenzepine43 28 1212.0GHRH, GH1, IGF1
6quinagolide4310.0IGF1, GH1
7naltrexone43 28 49 1213.0GHRH, IGF1, GH1
8salbutamol43 49 28 24 1214.0CD79A, GHRH, GH1
9sulfolipid i4310.0CD40LG, CD79A
10sandoglobulin439.9CD40LG, CD79A
11clomiphene citrate439.8CD40LG, IGF1, GH1
12leuprolide acetate439.7GH1, GHR, IGF1
13cabergoline43 28 1211.7IGF1, GHR, GH1
14forskolin43 49 1211.6GHSR, GHRH, POU1F1, GH1, GHRHR
15dehydroepiandrosterone sulfate439.6GH1, GHR, IGF1
16pegvisomant43 1210.6GH1, IGF1, GHR, GHRH
17clonidine43 49 28 1212.5GH1, IGF1, GHRH, GHR
18ivig439.5CD79A, BTK, CD40LG
19triiodothyronine439.5GHR, GHRH, GH1, IGF1
20levodopa43 1210.5IGF1, GH1, GHR, GHRH
21valproate439.4CD40LG, CD79A, IGF1
22lanreotide43 2810.4GHSR, GHR, IGF1, GHRH, GH1
23octreotide43 59 28 1212.3GHSR, GH1, GHRH, IGF1, GHR
24gnrh439.3IGF1, HESX1, GHRH, GHR, GH1
25dihydrotestosterone43 28 24 1212.3IGF1, GHR, GH1, CD79A
26adenylate439.3GHSR, GHRH, GHRHR, CD40LG, GH1
27c-peptide439.3IGF1, GH1, GHR
28bromocriptine43 28 1211.3IGF1, POU1F1, GHRH, GHR, GH1
29estradiol43 24 1211.2GHR, GH1, GHSR, IGF1, GHRH
30ghrp439.2GHSR, GHRH, GHR, GHRHR, IGF1, GH1
31hexarelin43 2810.2GHRH, IGF1, GHR, GHRHR, GH1, GHSR
32vitamin b12438.9IGF1, CD79A, CD40LG
33vitamin d438.9GH1, CD79A, POU1F1, GHRH, IGF1, GHR
34progesterone43 28 59 24 1212.8IGF1, GHR, GHRH, POU1F1, GH1
35acth438.8IGF1, GHR, GHRH, GH1, HESX1, GHSR
36thyroxine43 249.7GHR, GHRH, GH1, IGF1, CD40LG, CD79A
37creatinine438.7IGF1, GHR, GH1, CD40LG, CD79A
38steroid438.6CD79A, GHSR, GH1, GHR, GHRH, POU1F1
39ribonucleic acid438.6GHR, GH1, GH2, GHRHR, GHRH, POU1F1
40glucose438.5GH1, IGF1, GHSR, GH2, GHRHR, PAX6
41cysteine438.5CD40LG, CD79A, GH1, BTK, GHRHR, GHR
42glutamate438.5CD40LG, POU1F1, PAX6, GHRH, GHR, GHRHR
43alanine438.5CD40LG, POU1F1, GHR, GH1, PAX6, CD79A
44testosterone43 59 24 1211.3CD40LG, IGF1, GHRH, GHR, CD79A, GH2
45serine438.2CD40LG, GHRH, BTK, GHSR, GH1, GHR
46retinoic acid43 249.2POU1F1, GHR, GH1, CD79A, CD40LG, PAX6
47dopamine43 28 24 1211.2GHR, CD79A, GHSR, GH1, GHRH, CD40LG
48estrogen438.2GHRH, GHSR, GH1, GHR, CD40LG, IGF1
49dexamethasone43 49 28 1211.0CD40LG, GHSR, GH1, GHRHR, POU1F1, IGF1
50arginine436.6GHRH, GHSR, GHRHR, GH1, BTK, CD79A

GO Terms for genes affiliated with Isolated Growth Hormone Deficiency

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Cellular components related to Isolated Growth Hormone Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:00451219.7CD79A, BTK, GHSR
2extracellular regionGO:00055767.2CSHL1, IGF1, ITGBL1, GHRH, GHR, GH2

Biological processes related to Isolated Growth Hormone Deficiency according to GeneCards Suite gene sharing:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of growth hormone secretionGO:006012410.4GHRH, GHRHR
2somatotropin secreting cell developmentGO:006013310.3GHRHR, POU1F1
3cAMP-mediated signalingGO:001993310.3GHRH, GHRHR
4determination of adult lifespanGO:000834010.3POU1F1, GHRHR
5growth hormone secretionGO:003025210.2GHSR, GHRHR, GHRH
6water homeostasisGO:003010410.2GHRHR, IGF1
7cell fate specificationGO:000170810.1POU1F1, OTX2
8growth hormone receptor signaling pathwayGO:006039610.1GHR, GH1
9B cell activationGO:004211310.0CD79A, BTK
10hormone-mediated signaling pathwayGO:000975510.0GHSR, GHR
11pituitary gland developmentGO:00219839.9SOX3, PAX6
12organ morphogenesisGO:00098879.9PAX6, SOX3, LHX4
13response to foodGO:00320949.9GHRH, GHR, GHSR
14cellular response to insulin stimulusGO:00328699.9GHR, GHRHR, GHSR
15positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.9GH1, GHR
16B cell receptor signaling pathwayGO:00508539.9CD79A, BTK
17insulin-like growth factor receptor signaling pathwayGO:00480099.8GHR, IGF1
18positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.7GH1, GHR, IGF1
19positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.7GH1, GHR, IGF1
20JAK-STAT cascadeGO:00072599.7GHR, GH1
21B cell differentiationGO:00301839.7CD40LG, CD79A, POU1F1
22positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.6IGF1, GHRH, GHRHR, GH1, GHSR
23regulation of multicellular organism growthGO:00400149.6IGF1, GHR
24JAK-STAT cascade involved in growth hormone signaling pathwayGO:00603979.6GHR, GH2, GH1, CSH1
25positive regulation of cell proliferationGO:00082849.6GHRHR, GHRH, POU1F1, IGF1
26B cell proliferationGO:00421009.3CD40LG, CD79A
27positive regulation of transcription, DNA-templatedGO:00458939.3OTX2, PAX6, POU1F1, IGF1
28positive regulation of multicellular organism growthGO:00400189.2GHSR, GH1, GHRHR, GHR, GHRH, POU1F1

Molecular functions related to Isolated Growth Hormone Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1growth hormone-releasing hormone receptor activityGO:001652010.1GHRHR, GHSR
2RNA polymerase II core promoter sequence-specific DNA bindingGO:00009799.9PAX6, SOX3
3growth factor bindingGO:00198389.7GHRHR, GHR
4peptide hormone bindingGO:00170469.6GHSR, GHRHR, GHR
5sequence-specific DNA bindingGO:00435659.0OTX2, HESX1, POU1F1, LHX4
6hormone activityGO:00051798.8CSHL1, CSH1, GH1, GH2, IGF1

Products for genes affiliated with Isolated Growth Hormone Deficiency

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Sources for Isolated Growth Hormone Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
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35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
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