IGHD2
MCID: ISL114
MIFTS: 44

Isolated Growth Hormone Deficiency, Type Ii (IGHD2)

Categories: Endocrine diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Isolated Growth Hormone Deficiency, Type Ii

MalaCards integrated aliases for Isolated Growth Hormone Deficiency, Type Ii:

Name: Isolated Growth Hormone Deficiency, Type Ii 57 43 71
Ighd Ii 57 11 19 73 53 5
Isolated Growth Hormone Deficiency Type Ii 11 19 58 73 14
Growth Hormone Deficiency, Isolated, Type Ii 57 12 38
Ighd2 57 19 73
Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency Autosomal Dominant 19 73
Congenital Isolated Growth Hormone Deficiency Type Ii 11 58
Congenital Isolated Gh Deficiency Type Ii 11 58
Congenital Ighd Type Ii 11 58
Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency, Autosomal Dominant 57
Autosomal Dominant Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency 11
Growth Hormone Deficiency, Isolated, Autosomal Dominant 57
Growth Hormone Deficiency, Isolated Autosomal Dominant 19
Autosomal Dominant Isolated Growth Hormone Deficiency 11
Growth Hormone Deficiency Isolated Autosomal Dominant 73
Isolated Growth Hormone Deficiency Type 2 19
Growth Hormone Deficiency, Isolated, 2 73

Characteristics:


Inheritance:

Isolated Growth Hormone Deficiency, Type Ii: Autosomal dominant form 57
Isolated Growth Hormone Deficiency Type Ii: Autosomal dominant 58

Age Of Onset:

Isolated Growth Hormone Deficiency Type Ii: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0060872
OMIM® 57 173100
OMIM Phenotypic Series 57 PS262400
ICD10 31 E23.0
ICD10 via Orphanet 32 E23.0
UMLS via Orphanet 72 C0271567
Orphanet 58 ORPHA231679
MedGen 40 C0271567
UMLS 71 C0271567

Summaries for Isolated Growth Hormone Deficiency, Type Ii

GARD: 19 Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012).

MalaCards based summary: Isolated Growth Hormone Deficiency, Type Ii, also known as ighd ii, is related to isolated growth hormone deficiency and growth hormone deficiency. An important gene associated with Isolated Growth Hormone Deficiency, Type Ii is GH1 (Growth Hormone 1), and among its related pathways/superpathways are NF-KappaB Family Pathway and G-Beta Gamma Signaling. Affiliated tissues include pituitary and b cells, and related phenotypes are severe short stature and pituitary dwarfism

OMIM®: 57 Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012). (173100) (Updated 08-Dec-2022)

Disease Ontology: 11 An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material basis in dominant negative mutations in the GH1 gene on chromosome 17q23.3.

UniProtKB/Swiss-Prot: 73 An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy.

Related Diseases for Isolated Growth Hormone Deficiency, Type Ii

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency 31.3 SOX3 PROP1 POU1F1 IGF1 HESX1 GHRHR
2 growth hormone deficiency 31.0 SOX3 HESX1 GHRHR GH1
3 isolated growth hormone deficiency, type ia 29.7 PROP1 IGF1 GHRHR GHRH GH1 GH-LCR
4 pituitary hypoplasia 29.7 SOX3 PROP1 POU1F1 IGF1 HESX1 GHRHR
5 kowarski syndrome 10.3 GH1 GH-LCR
6 pituitary hormone deficiency, combined or isolated, 1 10.3 POU1F1 HESX1
7 non-acquired panhypopituitarism 10.2 SOX3 PROP1
8 protein-deficiency anemia 10.2 GH2 GH1
9 hypothyroidism, central, with testicular enlargement 10.2 PROP1 POU1F1
10 diencephalic astrocytoma 10.2 GH2 GH1
11 marasmus 10.2 IGF1 GH1
12 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.2 PROP1 POU1F1 HESX1
13 combined pituitary hormone deficiencies, genetic forms 10.2 PROP1 POU1F1 HESX1
14 acth deficiency, isolated 10.1 PROP1 POU1F1 HESX1
15 pituitary-dependent cushing's disease 10.1 GHRH GH1
16 pituitary adenoma 1, multiple types 10.1 IGF1 GH1
17 isolated growth hormone deficiency type iii 10.1 SOX3 HESX1 GHRHR
18 acid-labile subunit deficiency 10.1
19 adamantinous craniopharyngioma 10.1 PROP1 HESX1
20 laron syndrome 10.1 IGF1 GHRHR GH1
21 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
22 pituitary tumors 10.1 PROP1 IGF1 GH1
23 carcinoid syndrome 10.1 IGF1 GHRH
24 pituitary infarct 10.1 IGF1 GHRH
25 adermatoglyphia 10.1 IGF1 GH2 GH1
26 hypothalamic disease 10.0 IGF1 GHRH GH1
27 pituitary apoplexy 10.0 IGF1 GH1
28 46,xy sex reversal 10.0 SOX3 PROP1 HESX1
29 growth hormone secreting pituitary adenoma 10.0 IGF1 GHRH GH1
30 prolactinoma 10.0 POU1F1 IGF1 GHRHR GH1
31 fibrous dysplasia 10.0 IGF1 GHRH GH1
32 sheehan syndrome 10.0 PROP1 POU1F1 IGF1 GH1
33 lissencephaly, x-linked, 2 10.0 IGF1 GHRHR GHRH
34 hypothyroidism, congenital, nongoitrous, 4 10.0 PROP1 POU1F1 IGF1 GH1
35 isolated growth hormone deficiency, type ib 10.0 GHRHR GHRH GH1 GH-LCR
36 mccune-albright syndrome 10.0 IGF1 GHRH GH1
37 empty sella syndrome 10.0 PROP1 POU1F1 IGF1 GH1
38 hyperprolactinemia 10.0 IGF1 GHRH GH1
39 craniopharyngioma 10.0 PROP1 POU1F1 IGF1 GH1
40 hormone producing pituitary cancer 10.0 IGF1 GHRH
41 insulin-like growth factor i 10.0 IGF1 GHRH GH1
42 disorder of sexual development 10.0 SOX3 IGF1 GH1
43 holoprosencephaly 10.0 SOX3 PROP1 POU1F1 HESX1
44 kallmann syndrome 9.9 SOX3 PROP1 POU1F1 HESX1
45 functioning pituitary adenoma 9.9 POU1F1 IGF1 GHRH GH1
46 adenoma 9.9 POU1F1 IGF1 GHRH GH1
47 acromegaly 9.9 IGF1 GHRHR GHRH GH1
48 cryptorchidism, unilateral or bilateral 9.9 SOX3 PROP1 IGF1 HESX1
49 hypogonadotropic hypogonadism 9.9 SOX3 PROP1 IGF1 HESX1
50 nerve compression syndrome 9.9 IGF1 GHRH

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



Diseases related to Isolated Growth Hormone Deficiency, Type Ii

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Ii

Human phenotypes related to Isolated Growth Hormone Deficiency, Type Ii:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 severe short stature 30 HP:0003510
2 pituitary dwarfism 30 HP:0000839
3 decreased response to growth hormone stimulation test 30 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth:
dwarfism

Lab:
insulin responses to glucose and to arginine usually greater than normal
no insulinopenia

Endocrine:
isolated growth hormone deficiency

Clinical features from OMIM®:

173100 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Isolated Growth Hormone Deficiency, Type Ii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.24 CSHL1 ELF3 GALNS GH1 GH2 GHRH
2 growth/size/body region MP:0005378 10.2 CREB3L2 CSHL1 ELF3 ELF5 GH1 GH2
3 nervous system MP:0003631 10.14 CSHL1 GH1 GH2 GHRH GHRHR HESX1
4 endocrine/exocrine gland MP:0005379 10 CSHL1 ELF5 GH1 GH2 GHRH GHRHR
5 respiratory system MP:0005388 9.7 CSHL1 GH1 GH2 HESX1 IGF1 PROP1
6 reproductive system MP:0005389 9.65 CSHL1 ELF5 GH1 GH2 GHRH GHRHR
7 mortality/aging MP:0010768 9.47 CREB3L2 CSHL1 ELF3 ELF5 GH1 GH2

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ii

Search Clinical Trials, NIH Clinical Center for Isolated Growth Hormone Deficiency, Type Ii

Cochrane evidence based reviews: isolated growth hormone deficiency, type ii

Genetic Tests for Isolated Growth Hormone Deficiency, Type Ii

Anatomical Context for Isolated Growth Hormone Deficiency, Type Ii

Organs/tissues related to Isolated Growth Hormone Deficiency, Type Ii:

MalaCards : Pituitary, B Cells

Publications for Isolated Growth Hormone Deficiency, Type Ii

Articles related to Isolated Growth Hormone Deficiency, Type Ii:

(show top 50) (show all 97)
# Title Authors PMID Year
1
Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study. 57 5
15671105 2005
2
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. 53 62 57
18554279 2008
3
Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. 53 62 5
17785368 2007
4
Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency. 53 62 5
17726075 2007
5
A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency. 53 62 5
17178704 2006
6
A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. 53 62 5
16368751 2006
7
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. 53 62 5
12574219 2003
8
An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. 53 62 5
12000366 2002
9
An exon splice enhancer mutation causes autosomal dominant GH deficiency. 53 62 5
11836331 2002
10
A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study. 53 62 5
8530604 1995
11
A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome. 62 5
21546299 2011
12
Catch-up growth in autosomal dominant isolated growth hormone deficiency (IGHD type II). 62 5
17360215 2007
13
Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. 62 5
9700205 1998
14
Mechanisms responsible for dominant expression of human growth hormone gene mutations. 62 5
8923859 1996
15
Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. 62 5
7714096 1995
16
Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH. 5
23417163 2013
17
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). 57
22139958 2012
18
Genetic screening of a Dutch population with isolated GH deficiency (IGHD). 5
18785993 2009
19
Genetics of growth hormone deficiency. 5
17336732 2007
20
New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency. 5
12510984 2002
21
Prolonged retention after aggregation into secretory granules of human R183H-growth hormone (GH), a mutant that causes autosomal dominant GH deficiency type II. 5
12399418 2002
22
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. 5
11914025 2001
23
Isolated GH deficiency with dominant inheritance: new mutations, new insights. 5
11502827 2001
24
Autosomal dominant growth hormone (GH) deficiency type II: the Del32-71-GH deletion mutant suppresses secretion of wild-type GH. 5
10698162 2000
25
A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency. 5
10629163 1999
26
Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families. 5
10469016 1999
27
A Japanese family with autosomal dominant growth hormone deficiency. 5
10445339 1999
28
Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner. 5
10372722 1999
29
Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients. 5
10549303 1999
30
Familial growth hormone deficiency associated with MRI abnormalities. 57
9805128 1998
31
The molecular genetics of growth hormone deficiency. 5
9799079 1998
32
De novo mutations of the growth hormone gene: an important cause of congenital isolated growth hormone deficiency? 5
9578959 1998
33
Genetic defects in the control of growth hormone secretion. 5
9554464 1998
34
Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. 5
9432120 1998
35
A novel mechanism of aberrant pre-mRNA splicing in humans. 5
9175738 1997
36
Detection of growth hormone gene defects by dideoxy fingerprinting (ddF). 5
9152628 1997
37
An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken beta-tropomyosin pre-mRNA. 5
7567462 1995
38
18p monosomy with GH-deficiency and empty sella: good response to GH-treatment. 57
7554351 1995
39
Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. 57
8288694 1994
40
18p- syndrome and hypopituitarism. 57
1404301 1992
41
A family case with autosomal-dominantly inherited pituitary dwarfism. 57
3660403 1987
42
Familial isolated growth hormone deficiency. 57
7307312 1981
43
Aetiology of idiopathic growth hormone deficiency in England and Wales. 57
848998 1977
44
Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). 57
4214375 1974
45
Isolated growth hormone deficiency. Two families with autosomal dominant inheritance. 57
4361890 1974
46
Studies in high-deficient dwarfs: the type II anomaly. 57
5050736 1972
47
Hereditary isolated somatotropin deficiency: effects of human growth hormone administration. 57
5010465 1972
48
[Familial hypopituitarism]. 57
5511839 1970
49
A metabolic and hormonal basis for classifying ateliotic dwarfs. 57
4180815 1969
50
Growth-hormone deficiency in man: an isolated, recessively inherited defect. 57
4287048 1966

Variations for Isolated Growth Hormone Deficiency, Type Ii

ClinVar genetic disease variations for Isolated Growth Hormone Deficiency, Type Ii:

5 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GH1, GH-LCR NM_000515.5(GH1):c.291+6T>C SNV Pathogenic
15968 rs797044450 GRCh37: 17:61995371-61995371
GRCh38: 17:63918011-63918011
2 GH1, GH-LCR NM_000515.5(GH1):c.291+1G>C SNV Pathogenic
15971 rs71640277 GRCh37: 17:61995376-61995376
GRCh38: 17:63918016-63918016
3 GH1, GH-LCR NM_000515.5(GH1):c.291+28G>A SNV Pathogenic
15972 rs863223306 GRCh37: 17:61995349-61995349
GRCh38: 17:63917989-63917989
4 GH1, GH-LCR NM_000515.5(GH1):c.291+5G>A SNV Pathogenic
15975 rs863223307 GRCh37: 17:61995372-61995372
GRCh38: 17:63918012-63918012
5 GH1, GH-LCR NM_000515.5(GH1):c.176A>G (p.Glu59Gly) SNV Pathogenic
15977 GRCh37: 17:61995492-61995492
GRCh38: 17:63918132-63918132
6 GH1, GH-LCR NM_000515.5(GH1):c.172-2A>T SNV Pathogenic
15979 rs863223309 GRCh37: 17:61995498-61995498
GRCh38: 17:63918138-63918138
7 GH1, GH-LCR NM_000515.5(GH1):c.291+2T>C SNV Pathogenic
15980 rs863223310 GRCh37: 17:61995375-61995375
GRCh38: 17:63918015-63918015
8 GH1, GH-LCR NM_000515.5(GH1):c.173A>C (p.Glu58Ala) SNV Pathogenic
15984 GRCh37: 17:61995495-61995495
GRCh38: 17:63918135-63918135
9 GH1, GH-LCR NM_000515.5(GH1):c.291+1G>A SNV Pathogenic
15970 rs71640277 GRCh37: 17:61995376-61995376
GRCh38: 17:63918016-63918016
10 GH1, GH-LCR NM_000515.5(GH1):c.172G>A (p.Glu58Lys) SNV Pathogenic
15985 GRCh37: 17:61995496-61995496
GRCh38: 17:63918136-63918136
11 GH1, GH-LCR NM_000515.5(GH1):c.292-37_292-16del DEL Pathogenic
15982 GRCh37: 17:61995300-61995321
GRCh38: 17:63917940-63917961
12 GH1, GH-LCR NM_000515.5(GH1):c.291+29_291+46del DEL Pathogenic
15973 GRCh37: 17:61995331-61995348
GRCh38: 17:63917971-63917988
13 GH1, GH-LCR NM_000515.5(GH1):c.626G>A (p.Arg209His) SNV Pathogenic/Likely Pathogenic
15983 rs137853223 GRCh37: 17:61994697-61994697
GRCh38: 17:63917337-63917337
14 GH1, GH-LCR NM_000515.5(GH1):c.131A>C (p.His44Pro) SNV Likely Pathogenic
998049 rs754126557 GRCh37: 17:61995746-61995746
GRCh38: 17:63918386-63918386
15 GH1, GH-LCR NM_000515.5(GH1):c.254C>T (p.Pro85Leu) SNV Likely Pathogenic
1702861 GRCh37: 17:61995414-61995414
GRCh38: 17:63918054-63918054
16 GH1, GH-LCR NM_000515.5(GH1):c.302T>C (p.Leu101Pro) SNV Uncertain Significance
1030835 rs1907452711 GRCh37: 17:61995274-61995274
GRCh38: 17:63917914-63917914
17 GH1, GH-LCR NM_000515.5(GH1):c.452T>C (p.Met151Thr) SNV Uncertain Significance
1679136 GRCh37: 17:61995124-61995124
GRCh38: 17:63917764-63917764
18 GH1, GH-LCR NM_000515.5(GH1):c.-4T>G SNV Benign
324460 rs6173 GRCh37: 17:61996140-61996140
GRCh38: 17:63918780-63918780
19 GH1, GH-LCR NM_000515.5(GH1):c.7A>G (p.Thr3Ala) SNV Benign
289503 rs2001345 GRCh37: 17:61996130-61996130
GRCh38: 17:63918770-63918770
20 GH1, GH-LCR NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) SNV Benign
195080 rs61735357 GRCh37: 17:61995725-61995725
GRCh38: 17:63918365-63918365

UniProtKB/Swiss-Prot genetic disease variations for Isolated Growth Hormone Deficiency, Type Ii:

73
# Symbol AA change Variation ID SNP ID
1 GH1 p.Arg209His VAR_015815 rs137853223

Expression for Isolated Growth Hormone Deficiency, Type Ii

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

Pathways for Isolated Growth Hormone Deficiency, Type Ii

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 IGF1 GHRH GH2 GH1
2
Show member pathways
11.84 GHRHR GHRH GH2 GH1
3 10.61 IGF1 GHRH GH2 GH1

GO Terms for Isolated Growth Hormone Deficiency, Type Ii

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to nutrient levels GO:0031667 9.99 GH2 GH1 CSHL1
2 positive regulation of receptor signaling pathway via JAK-STAT GO:0046427 9.93 GH2 GH1 CSHL1
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.92 IGF1 GH2 GH1 CSHL1
4 positive regulation of multicellular organism growth GO:0040018 9.91 GHRHR GHRH GH1
5 animal organ development GO:0048513 9.88 GH2 GH1 CSHL1
6 positive regulation of growth hormone secretion GO:0060124 9.84 GHRHR GHRH
7 growth hormone secretion GO:0030252 9.78 GHRHR GHRH
8 pituitary gland development GO:0021983 9.77 HESX1 PROP1 SOX3
9 growth hormone receptor signaling pathway GO:0060396 9.73 GH2 GH1 CSHL1
10 positive regulation of growth GO:0045927 9.63 GH2 GH1 CSHL1
11 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.56 IGF1 GHRHR GHRH GH1
12 positive regulation of hormone secretion GO:0046887 9.52 GHRHR GHRH
13 hormone secretion GO:0046879 9.49 GHRHR GHRH
14 adenohypophysis development GO:0021984 9.1 PROP1 POU1F1 GHRHR GHRH

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 10.03 SOX3 PROP1 POU1F1 HESX1 ELF5 ELF3
2 growth factor activity GO:0008083 9.76 IGF1 GH2 GH1 CSHL1
3 growth hormone receptor binding GO:0005131 9.43 GH2 GH1 CSHL1
4 hormone activity GO:0005179 9.28 IGF1 GHRH GH2 GH1 CSHL1

Sources for Isolated Growth Hormone Deficiency, Type Ii

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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