MCID: ISL003
MIFTS: 52

Isolated Growth Hormone Deficiency malady

Endocrine diseases category
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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 isolated growth hormone deficiency type 1b 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.

Aliases & Classifications for Isolated Growth Hormone Deficiency

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Isolated Growth Hormone Deficiency, Aliases & Descriptions:

Name: Isolated Growth Hormone Deficiency 21 62
Isolated Somatotropin Deficiency Disorder 21 62
Isolated Human Growth Hormone Deficiency 21 62
Growth Hormone Deficiency Dwarfism 21 62
Isolated Somatotropin Deficiency 21 62
Isolated Hgh Deficiency 21 62
 
Isolated Gh Deficiency 21 62
Dwarfism, Growth Hormone Deficiency 21
Dwarfism, Pituitary 21
Dwarfism Pituitary 44
Pituitary Dwarfism 62


Classifications:

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


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/GeneDecks gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1isolated growth hormone deficiency type 1b31.6GHRHR, GH1
2optic nerve hypoplasia31.0PAX6
3growth hormone deficiency30.9IGF1, SOX3, POU1F1, HESX1, GHRH, GHR
4agammaglobulinemia30.9BTK, CD79A, CD40LG
5acromegaly30.8IGF1, GH1
6septo-optic dysplasia30.8GH1, HESX1, POU1F1
7hyperprolactinemia30.7IGF1, GHRH, GH1
8hypoglycemia30.6IGF1, GHRH, GHR, GH1
9hypogonadism30.5IGF1, POU1F1, GH1
10laron syndrome30.5GH1, GHR, IGF1
11anorexia nervosa30.2IGF1, GHRH, GHR, GH1
12dwarfism30.2IGF1, POU1F1, GHRH, GHR, GHRHR, GH1
13pituitary hypoplasia30.1LHX4, SOX3, POU1F1, HESX1, GHRH, GHRHR
14short stature30.0GH1, GHSR, GHRHR, GHR, GHRH, IGF1
15obesity29.9IGF1, HESX1, GHRH, GHR, GH1, GHSR
16panhypopituitarism29.7IGF1, LHX4, POU1F1, HESX1, GHR, GH1
17hypopituitarism29.4SOX3, POU1F1, HESX1, GHRH, GHR, GH1
18isolated growth hormone deficiency type 210.7
19isolated growth hormone deficiency type 1a10.7
20mental retardation, x-linked, with isolated growth hormone deficiency10.6
21isolated growth hormone deficiency type 310.6
22anophthalmia/microphthalmia10.5OTX2
23dysentery10.4CD79A
24vipoma10.4GH1, GHRH
25q fever10.4CD79A
26syphilis10.4CD79A
27rabson-mendenhall syndrome10.4IGF1
28macroglobulinemia10.4CD79A
29cryptosporidiosis10.4CD79A
30cushing's syndrome10.4GHRH
31glucagonoma10.4GHRH, GH1
32gigantism10.4IGF1, GH1
33carcinoid syndrome10.4GHSR, GH1, GHRH
34thyroiditis10.3
35isolated growth hormone deficiency, type ib, ghrhr-related10.3
36partial isolated growth hormone deficiency10.3
37isolated growth hormone deficiency, type ib, gh1-related10.3
38mental retardation10.3
39isolated growth hormone deficiency due to defect in ghrf10.3
40pituitary gland disease10.3IGF1, GH1
41insulin-like growth factor 1 resistance to10.3IGF1, GH1
42gonadal disease10.3IGF1, GH1
43idiopathic juvenile osteoporosis10.3IGF1, GH1
44acth deficiency10.3POU1F1, HESX1, GH1
45wermer syndrome10.3GHRHR, GHRH
46anophthalmia plus syndrome10.3OTX2, HESX1, PAX6
47craniopharyngioma10.3GH1, IGF1
48prader-willi syndrome10.2IGF1, GH1, GHSR
49polycystic ovary syndrome10.2GH1, GHRH, IGF1
50empty sella syndrome10.2IGF1, POU1F1, GH1

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:

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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:

32
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 183)
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
Children with isolated growth hormone deficiency: Empty sella versus normal sella. (24019611)
2013
4
Molecular genetic studies in Isolated Growth Hormone Deficiency (IGHD). (23436191)
2013
5
Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency. (23565410)
2012
6
Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD). (22016154)
2012
7
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
8
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
9
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
10
Genetic causes and treatment of isolated growth hormone deficiency-an update. (20852587)
2010
11
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency. (19622623)
2009
12
Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. (19417035)
2009
13
Characterization of GH-1 mutations in children with isolated growth hormone deficiency in the Turkish population. (20020582)
2009
14
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. (18554279)
2008
15
Isolated growth hormone deficiency: clinical entity? (19020379)
2008
16
Transient, isolated growth hormone deficiency after a BB gunshot wound. (17396434)
2007
17
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
18
Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. (17785368)
2007
19
Adult height in patients treated for isolated growth hormone deficiency: role of birth weight. (15767761)
2005
20
A mouse with targeted ablation of the growth hormone-releasing hormone gene: a new model of isolated growth hormone deficiency. (15155578)
2004
21
Isolated growth hormone deficiency in Chilean patients: clinical and molecular analysis. (14594175)
2003
22
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
23
Familial isolated growth hormone deficiency: genetics and pathophysiology. (12201208)
2002
24
Isolated growth hormone deficiency and the GH-1 gene: update 2002. (12435888)
2002
25
New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency. (12510984)
2002
26
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
27
Isolated growth hormone deficiency in children and adolescents. (11529396)
2001
28
Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. (10678654)
2000
29
Prevalence of GH-1 gene deletion in patients with isolated growth hormone deficiency in Japan. GH Gene Study Group. (10943739)
2000
30
MR findings in hereditary isolated growth hormone deficiency. (9367326)
1997
31
Hexarelin, a growth hormone-releasing peptide, discloses protectant activity against cardiovascular damage in rats with isolated growth hormone deficiency. (9534309)
1997
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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Expression patterns in normal tissues for genes affiliated with Isolated Growth Hormone Deficiency

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Pathways for genes affiliated with Isolated Growth Hormone Deficiency

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Pathways related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7OTX2, PAX6, SOX3
2
Show member pathways
9.5IGF1, PAX6, GH1
3
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.4CD40LG, CD79A, BTK
49.4CD40LG, CD79A, BTK
5
Show member pathways
9.4IGF1, GHRH, GH2, GH1
6
Show member pathways
9.4IGF1, GHRH, GH2, GH1
7
Show member pathways
9.4GH1, GH2, GHRH, IGF1
8
Show member pathways
9.4GHRH, GHRHR, GH2, GH1, BTK
99.4GH1, GHR, IGF1
109.2CSH1, GH1, GH2, GHR
11
Show member pathways
Type III interferon signaling37
9.2GHR, GH2, GH1, CSH1
12
Show member pathways
9.2CSH1, GH1, GH2, GHR
13
Show member pathways
9.2GHR, GH2, GH1, CSH1
14
Show member pathways
9.2IGF1, GHRH, GH2, GH1, BTK
15
Show member pathways
9.2IGF1, GHRH, GH2, GH1, BTK
16
Show member pathways
9.2GH1, GH2, GHRH, IGF1, BTK
17
Show member pathways
9.0GHR, GH2, GH1, CSH1, BTK
18
Show member pathways
8.8GHR, GH2, GH1, BTK, CD40LG
198.8IGF1, GHR, GH2, GH1, CSH1
20
Show member pathways
8.8IGF1, GHRH, GH2, GH1, BTK, CD79A
21
Show member pathways
8.8IGF1, GHRH, GH2, GH1, BTK, CD79A
22
Show member pathways
8.7IGF1, GHRH, GHR, GH2, GH1, BTK
23
Show member pathways
8.6IGF1, SOX3, PAX6, GHRH, GH2, GH1
24
Show member pathways
8.6GHRH, GHR, GHRHR, GH2, GH1, GHSR
25
Show member pathways
8.5IGF1, GHR, GH2, GH1, BTK, CD79A
26
Show member pathways
8.2IGF1, GHRH, GHR, GHRHR, GH2, GH1

Compounds for genes affiliated with Isolated Growth Hormone Deficiency

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Compounds related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1mk-067744 2811.2IGF1, GHSR
2somatuline4410.1IGF1, GH1
3pyridostigmine44 1111.0GH1, GHRH, IGF1
4acipimox44 2811.0IGF1, GHRH, GH1
5pirenzepine44 28 1112.0GH1, GHRH, IGF1
6quinagolide4410.0GH1, IGF1
7naltrexone44 28 50 1113.0IGF1, GHRH, GH1
8salbutamol44 50 28 24 1114.0CD79A, GH1, GHRH
9sulfolipid i4410.0CD79A, CD40LG
10sandoglobulin449.9CD79A, CD40LG
11clomiphene citrate449.8CD40LG, GH1, IGF1
12leuprolide acetate449.7IGF1, GHR, GH1
13cabergoline44 28 1111.7GH1, GHR, IGF1
14forskolin44 50 1111.6POU1F1, GHRH, GHRHR, GH1, GHSR
15pegvisomant44 1110.6GH1, GHR, GHRH, IGF1
16dehydroepiandrosterone sulfate449.6IGF1, GHR, GH1
17clonidine44 50 28 1112.5GH1, GHR, GHRH, IGF1
18ivig449.5CD40LG, CD79A, BTK
19triiodothyronine449.5IGF1, GHRH, GHR, GH1
20levodopa44 1110.5IGF1, GHRH, GHR, GH1
21valproate449.5IGF1, CD79A, CD40LG
22lanreotide44 2810.4IGF1, GHRH, GHR, GH1, GHSR
23octreotide44 61 28 1112.3IGF1, GHRH, GHR, GH1, GHSR
24gnrh449.3IGF1, HESX1, GHRH, GHR, GH1
25dihydrotestosterone44 28 24 1112.3CD79A, GH1, GHR, IGF1
26adenylate449.3GHRH, GHRHR, GH1, GHSR, CD40LG
27c-peptide449.3IGF1, GHR, GH1
28bromocriptine44 28 1111.3IGF1, POU1F1, GHRH, GHR, GH1
29estradiol44 24 1111.2IGF1, GHRH, GHR, GH1, GHSR
30ghrp449.2GHSR, IGF1, GHRH, GHR, GHRHR, GH1
31hexarelin44 2810.2GHSR, GH1, GHRHR, GHR, GHRH, IGF1
32vitamin b12448.9IGF1, CD79A, CD40LG
33vitamin d448.9IGF1, POU1F1, GHRH, GHR, GH1, CD79A
34progesterone44 28 61 24 1112.8GH1, GHR, GHRH, POU1F1, IGF1
35acth448.8IGF1, POU1F1, HESX1, GHRH, GHR, GH1
36thyroxine44 249.7IGF1, GHRH, GHR, GH1, CD79A, CD40LG
37creatinine448.7IGF1, GHR, GH1, CD79A, CD40LG
38steroid448.6IGF1, POU1F1, GHRH, GHR, GH1, GHSR
39ribonucleic acid448.6IGF1, POU1F1, GHRH, GHR, GHRHR, GH2
40glucose448.5IGF1, PAX6, GHRH, GHR, GHRHR, GH2
41cysteine448.5GHR, GHRHR, GH1, BTK, CD79A, CD40LG
42glutamate448.5POU1F1, PAX6, GHRH, GHR, GHRHR, CD79A
43alanine448.5SOX3, POU1F1, PAX6, GHR, GH1, CD79A
44testosterone44 61 24 1111.3IGF1, GHRH, GHR, GH2, GH1, GHSR
45serine448.2IGF1, PAX6, GHRH, GHR, GH1, GHSR
46retinoic acid44 249.2IGF1, POU1F1, PAX6, GHR, GH1, CD79A
47dopamine44 28 24 1111.2IGF1, POU1F1, GHRH, GHR, GH1, GHSR
48estrogen448.2IGF1, POU1F1, GHRH, GHR, GH1, GHSR
49dexamethasone44 50 28 1111.0IGF1, POU1F1, GHRH, GHR, GHRHR, GH1
50arginine446.6POU1F1, IGF1, PAX6, GHRH, SLC20A1, CD40LG

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:0451219.7CD79A, BTK, GHSR
2extracellular regionGO:0055767.2CSHL1, IGF1, ITGBL1, GHRH, GHR, GH2

Biological processes related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of growth hormone secretionGO:06012410.4GHRH, GHRHR
2somatotropin secreting cell developmentGO:06013310.3GHRHR, POU1F1
3cAMP-mediated signalingGO:01993310.3GHRH, GHRHR
4determination of adult lifespanGO:00834010.3POU1F1, GHRHR
5growth hormone secretionGO:03025210.2GHSR, GHRHR, GHRH
6water homeostasisGO:03010410.2GHRHR, IGF1
7cell fate specificationGO:00170810.1POU1F1, OTX2
8growth hormone receptor signaling pathwayGO:06039610.1GHR, GH1
9B cell activationGO:04211310.0CD79A, BTK
10hormone-mediated signaling pathwayGO:00975510.0GHSR, GHR
11pituitary gland developmentGO:0219839.9SOX3, PAX6
12organ morphogenesisGO:0098879.9PAX6, SOX3, LHX4
13response to foodGO:0320949.9GHRH, GHR, GHSR
14cellular response to insulin stimulusGO:0328699.9GHR, GHRHR, GHSR
15positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.9GH1, GHR
16B cell receptor signaling pathwayGO:0508539.9CD79A, BTK
17insulin-like growth factor receptor signaling pathwayGO:0480099.8GHR, IGF1
18positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.7GH1, GHR, IGF1
19positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.7GH1, GHR, IGF1
20JAK-STAT cascadeGO:0072599.7GHR, GH1
21B cell differentiationGO:0301839.7CD40LG, CD79A, POU1F1
22positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.6IGF1, GHRH, GHRHR, GH1, GHSR
23regulation of multicellular organism growthGO:0400149.6IGF1, GHR
24JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.6GHR, GH2, GH1, CSH1
25positive regulation of cell proliferationGO:0082849.6GHRHR, GHRH, POU1F1, IGF1
26B cell proliferationGO:0421009.3CD40LG, CD79A
27positive regulation of transcription, DNA-templatedGO:0458939.3OTX2, PAX6, POU1F1, IGF1
28positive regulation of multicellular organism growthGO:0400189.2GHSR, GH1, GHRHR, GHR, GHRH, POU1F1

Molecular functions related to Isolated Growth Hormone Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth hormone-releasing hormone receptor activityGO:01652010.1GHRHR, GHSR
2RNA polymerase II core promoter sequence-specific DNA bindingGO:0009799.9PAX6, SOX3
3growth factor bindingGO:0198389.7GHRHR, GHR
4peptide hormone bindingGO:0170469.6GHSR, GHRHR, GHR
5sequence-specific DNA bindingGO:0435659.0OTX2, HESX1, POU1F1, LHX4
6hormone activityGO:0051798.8CSHL1, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet