IGHD1B
MCID: ISL015
MIFTS: 42

Isolated Growth Hormone Deficiency, Type Ib (IGHD1B)

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

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

Name: Isolated Growth Hormone Deficiency, Type Ib 57 71
Isolated Growth Hormone Deficiency Type Ib 11 58 73 28 5 14
Growth Hormone Deficiency, Isolated, Type Ib 57 12 38
Ighd Ib 57 11 73
Ighd1b 57 19 73
Congenital Isolated Growth Hormone Deficiency Type Ib 11 58
Congenital Isolated Gh Deficiency Type Ib 11 58
Congenital Ighd Type Ib 11 58
Pituitary Dwarfism I 73 71
Dwarfism of Sindh 11 19
Isolated Growth Hormone Deficiency Type 1b 19
Growth Hormone Deficiency, Isolated, 1b 73
Ighd 1b 19

Characteristics:


Inheritance:

Isolated Growth Hormone Deficiency Type Ib: Autosomal recessive 58

Age Of Onset:

Isolated Growth Hormone Deficiency Type Ib: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0060874
OMIM® 57 612781
OMIM Phenotypic Series 57 PS262400
MeSH 43 D004393
ICD10 31 E23.0
ICD10 via Orphanet 32 E23.0
UMLS via Orphanet 72 C2748571
Orphanet 58 ORPHA231671
MedGen 40 C2748571
SNOMED-CT via HPO 69 123983008 2109003 237836003
UMLS 71 C0342573 C2748571

Summaries for Isolated Growth Hormone Deficiency, Type Ib

OMIM®: 57 IGHD type IB is an autosomal recessive disorder characterized by low but detectable levels of GH, short stature (more than 2 SD below the mean for age and sex), delayed bone age, and a good response to rhGH treatment without antibody formation (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. (612781) (Updated 08-Dec-2022)

MalaCards based summary: Isolated Growth Hormone Deficiency, Type Ib, also known as isolated growth hormone deficiency type ib, is related to isolated growth hormone deficiency and growth hormone deficiency. An important gene associated with Isolated Growth Hormone Deficiency, Type Ib is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include pituitary and bone, and related phenotypes are delayed skeletal maturation and short stature

GARD: 19 IGHD type IB is an autosomal recessive disorder characterized by low but detectable levels of GH, short stature (more than 2 SD below the mean for age and sex), delayed bone age, and a good response to rhGH treatment without antibody formation (summary by Alatzoglou et al., 2014).For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400.

Disease Ontology: 11 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.

UniProtKB/Swiss-Prot: 73 An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy.

Related Diseases for Isolated Growth Hormone Deficiency, Type Ib

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



Diseases related to Isolated Growth Hormone Deficiency, Type Ib

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Ib

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

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 30 HP:0002750
2 short stature 30 HP:0004322
3 decreased response to growth hormone stimulation test 30 HP:0000824

Clinical features from OMIM®:

612781 (Updated 08-Dec-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.44 ADCYAP1R1 CACNG7 GH1 GHRH GHRHR GLP2R

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ib

Drugs for Isolated Growth Hormone Deficiency, Type Ib (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Pituitary Size and Function in Familial Dwarfism of Sindh Completed NCT00004365

Search NIH Clinical Center for Isolated Growth Hormone Deficiency, Type Ib

Genetic Tests for Isolated Growth Hormone Deficiency, Type Ib

Genetic tests related to Isolated Growth Hormone Deficiency, Type Ib:

# Genetic test Affiliating Genes
1 Isolated Growth Hormone Deficiency Type Ib 28 GH1

Anatomical Context for Isolated Growth Hormone Deficiency, Type Ib

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

MalaCards : Pituitary, Bone

Publications for Isolated Growth Hormone Deficiency, Type Ib

Articles related to Isolated Growth Hormone Deficiency, Type Ib:

(show all 18)
# Title Authors PMID Year
1
Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. 62 57 5
10678654 2000
2
Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene. 62 57 5
10689634 2000
3
Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. 57 5
8496314 1993
4
Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. 57
24450934 2014
5
Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. 57
8288694 1994
6
Effects of human pancreatic tumour growth hormone releasing factor on growth hormone and somatomedin C levels in patients with idiopathic growth hormone deficiency. 57
6134978 1983
7
Growth-hormone-releasing factor in growth hormone deficiency: demonstration of a hypothalamic defect in growth hormone release. 57
6134983 1983
8
A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib 62
29537382 2018
9
A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB. 62
29147571 2017
10
A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients. 62
25153028 2014
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. 62
19622623 2009
12
Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB. 62
19417035 2009
13
Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India. 62
16355809 2005
14
The Impact of congenital, severe, untreated growth hormone (GH) deficiency on bone size and density in young adults: insights from genetic GH-releasing hormone receptor deficiency. 62
12788864 2003
15
Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene. 62
12444890 2002
16
Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib. 62
11232012 2001
17
Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. 62
10782778 2000
18
Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh. 62
9814493 1998

Variations for Isolated Growth Hormone Deficiency, Type Ib

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

5 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GH1, GH-LCR NM_000515.5(GH1):c.456+1G>C SNV Pathogenic
15966 rs797044449 GRCh37: 17:61995119-61995119
GRCh38: 17:63917759-63917759
2 GH1, GH-LCR NM_000515.5(GH1):c.456+1G>T SNV Pathogenic
15967 rs797044449 GRCh37: 17:61995119-61995119
GRCh38: 17:63917759-63917759
3 GH1, GH-LCR NM_000515.5(GH1):c.456+5G>C SNV Pathogenic
15976 rs863223308 GRCh37: 17:61995115-61995115
GRCh38: 17:63917755-63917755
4 GHRHR INDEL Pathogenic
56966 GRCh37: 7:30999250-31006943
GRCh38: 7:30959635-30967328
5 GHRHR NC_000007.14:g.31008681G>T SNV Pathogenic
626257 rs1562606449 GRCh37: 7:31048296-31048296
GRCh38: 7:31008681-31008681
6 GHRHR NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro) SNV Likely Pathogenic
161435 rs606231412 GRCh37: 7:31010785-31010785
GRCh38: 7:30971170-30971170
7 GHRHR NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) SNV Likely Pathogenic
161436 rs200848306 GRCh37: 7:31009494-31009494
GRCh38: 7:30969879-30969879
8 GHRHR NM_000823.4(GHRHR):c.495C>A (p.His165Gln) SNV Likely Pathogenic
161437 rs606231413 GRCh37: 7:31011608-31011608
GRCh38: 7:30971993-30971993
9 GHRHR NM_000823.4(GHRHR):c.914G>A (p.Arg305His) SNV Uncertain Significance
360036 rs200472991 GRCh37: 7:31015423-31015423
GRCh38: 7:30975808-30975808
10 GHRHR NM_000823.4(GHRHR):c.57+1G>T SNV Uncertain Significance
360028 rs2302022 GRCh37: 7:31003741-31003741
GRCh38: 7:30964126-30964126
11 GHRHR NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp) SNV Uncertain Significance
360035 rs527387367 GRCh37: 7:31014648-31014648
GRCh38: 7:30975033-30975033
12 GHRHR NM_000823.4(GHRHR):c.*51C>T SNV Uncertain Significance
360038 rs185262577 GRCh37: 7:31018910-31018910
GRCh38: 7:30979295-30979295
13 GHRHR NM_000823.4(GHRHR):c.29T>G (p.Val10Gly) SNV Uncertain Significance
360027 rs139599160 GRCh37: 7:31003712-31003712
GRCh38: 7:30964097-30964097
14 GHRHR NM_000823.4(GHRHR):c.208T>G (p.Ser70Ala) SNV Uncertain Significance
360029 rs775025721 GRCh37: 7:31008725-31008725
GRCh38: 7:30969110-30969110
15 GHRHR NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp) SNV Uncertain Significance
909041 rs142361839 GRCh37: 7:31003693-31003693
GRCh38: 7:30964078-30964078
16 GHRHR NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser) SNV Uncertain Significance
287138 rs10227922 GRCh37: 7:31011625-31011625
GRCh38: 7:30972010-30972010
17 GHRHR NM_000823.4(GHRHR):c.174C>A (p.Thr58=) SNV Uncertain Significance
909044 rs540740642 GRCh37: 7:31008691-31008691
GRCh38: 7:30969076-30969076
18 GHRHR NM_000823.4(GHRHR):c.200C>T (p.Thr67Met) SNV Uncertain Significance
909045 rs201893637 GRCh37: 7:31008717-31008717
GRCh38: 7:30969102-30969102
19 GHRHR NM_000823.4(GHRHR):c.974+15T>G SNV Uncertain Significance
909103 rs1792566990 GRCh37: 7:31015498-31015498
GRCh38: 7:30975883-30975883
20 GHRHR NM_000823.4(GHRHR):c.1165C>T (p.Arg389Trp) SNV Uncertain Significance
909105 rs200508601 GRCh37: 7:31018752-31018752
GRCh38: 7:30979137-30979137
21 GHRHR NM_000823.4(GHRHR):c.*29A>G SNV Uncertain Significance
909107 rs759106817 GRCh37: 7:31018888-31018888
GRCh38: 7:30979273-30979273
22 GHRHR NM_000823.4(GHRHR):c.279A>G (p.Lys93=) SNV Uncertain Significance
909904 rs1792444704 GRCh37: 7:31009492-31009492
GRCh38: 7:30969877-30969877
23 GHRHR NM_000823.4(GHRHR):c.359C>T (p.Ala120Val) SNV Uncertain Significance
909905 rs138751215 GRCh37: 7:31009572-31009572
GRCh38: 7:30969957-30969957
24 GHRHR NM_000823.4(GHRHR):c.447C>T (p.Thr149=) SNV Uncertain Significance
909906 rs753197652 GRCh37: 7:31010814-31010814
GRCh38: 7:30971199-30971199
25 GHRHR NM_000823.4(GHRHR):c.*88T>A SNV Uncertain Significance
909959 rs578006876 GRCh37: 7:31018947-31018947
GRCh38: 7:30979332-30979332
26 GHRHR NM_000823.4(GHRHR):c.490G>A (p.Val164Ile) SNV Uncertain Significance
910805 rs138615339 GRCh37: 7:31011603-31011603
GRCh38: 7:30971988-30971988
27 GHRHR NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu) SNV Uncertain Significance
910806 rs570281194 GRCh37: 7:31011620-31011620
GRCh38: 7:30972005-30972005
28 GHRHR NM_000823.4(GHRHR):c.580C>T (p.His194Tyr) SNV Uncertain Significance
910807 rs377182945 GRCh37: 7:31011693-31011693
GRCh38: 7:30972078-30972078
29 GHRHR NM_000823.4(GHRHR):c.6C>T (p.Asp2=) SNV Uncertain Significance
911972 rs148704543 GRCh37: 7:31003689-31003689
GRCh38: 7:30964074-30964074
30 GHRHR NM_000823.4(GHRHR):c.760G>A (p.Val254Met) SNV Uncertain Significance
912022 rs375562610 GRCh37: 7:31014052-31014052
GRCh38: 7:30974437-30974437
31 GHRHR NM_000823.4(GHRHR):c.882+11G>A SNV Uncertain Significance
912023 rs200997755 GRCh37: 7:31014666-31014666
GRCh38: 7:30975051-30975051
32 GHRHR NM_000823.4(GHRHR):c.812C>T (p.Ala271Val) SNV Uncertain Significance
360033 rs547906129 GRCh37: 7:31014104-31014104
GRCh38: 7:30974489-30974489
33 GHRHR NM_000823.4(GHRHR):c.*198C>A SNV Uncertain Significance
360040 rs886062276 GRCh37: 7:31019057-31019057
GRCh38: 7:30979442-30979442
34 GHRHR NM_000823.4(GHRHR):c.640A>G (p.Met214Val) SNV Uncertain Significance
360032 rs535947130 GRCh37: 7:31013642-31013642
GRCh38: 7:30974027-30974027
35 GHRHR NM_000823.4(GHRHR):c.741C>T (p.Leu247=) SNV Uncertain Significance
284569 rs151019928 GRCh37: 7:31013743-31013743
GRCh38: 7:30974128-30974128
36 GHRHR NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu) SNV Uncertain Significance
909042 rs142833343 GRCh37: 7:31003730-31003730
GRCh38: 7:30964115-30964115
37 GHRHR NM_000823.4(GHRHR):c.93C>T (p.Ile31=) SNV Uncertain Significance
749584 rs143429066 GRCh37: 7:31008484-31008484
GRCh38: 7:30968869-30968869
38 GHRHR NM_000823.4(GHRHR):c.975-6C>A SNV Uncertain Significance
729746 rs117572522 GRCh37: 7:31016038-31016038
GRCh38: 7:30976423-30976423
39 GHRHR NM_000823.4(GHRHR):c.1105-14C>G SNV Uncertain Significance
909104 rs13223704 GRCh37: 7:31016882-31016882
GRCh38: 7:30977267-30977267
40 GHRHR NM_000823.4(GHRHR):c.1242G>A (p.Ser414=) SNV Uncertain Significance
909106 rs28371562 GRCh37: 7:31018829-31018829
GRCh38: 7:30979214-30979214
41 GHRHR NM_000823.4(GHRHR):c.237G>A (p.Pro79=) SNV Uncertain Significance
909902 rs28371558 GRCh37: 7:31008754-31008754
GRCh38: 7:30969139-30969139
42 GHRHR NM_000823.4(GHRHR):c.812+12C>T SNV Uncertain Significance
360034 rs151020002 GRCh37: 7:31014116-31014116
GRCh38: 7:30974501-30974501
43 GHRHR NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) SNV Uncertain Significance
198104 rs147098353 GRCh37: 7:31011602-31011602
GRCh38: 7:30971987-30971987
44 GHRHR NM_000823.4(GHRHR):c.660G>A (p.Leu220=) SNV Uncertain Significance
597235 rs145466944 GRCh37: 7:31013662-31013662
GRCh38: 7:30974047-30974047
45 GHRHR NM_000823.4(GHRHR):c.751+12G>A SNV Uncertain Significance
912020 rs187794371 GRCh37: 7:31013765-31013765
GRCh38: 7:30974150-30974150
46 GHRHR NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu) SNV Uncertain Significance
1031665 rs202243828 GRCh37: 7:31003736-31003736
GRCh38: 7:30964121-30964121
47 GH1, GH-LCR NM_000515.5(GH1):c.246G>C (p.Glu82Asp) SNV Uncertain Significance
889155 rs61762497 GRCh37: 17:61995422-61995422
GRCh38: 17:63918062-63918062
48 GHRHR NM_000823.4(GHRHR):c.1250del (p.Lys417fs) DEL Uncertain Significance
632503 rs771060895 GRCh37: 7:31018835-31018835
GRCh38: 7:30979220-30979220
49 GHRHR NM_000823.4(GHRHR):c.489C>G (p.Tyr163Ter) SNV Uncertain Significance
632502 rs147098353 GRCh37: 7:31011602-31011602
GRCh38: 7:30971987-30971987
50 GHRHR NM_000823.4(GHRHR):c.272C>T (p.Ala91Val) SNV Likely Benign
909903 rs144372265 GRCh37: 7:31009485-31009485
GRCh38: 7:30969870-30969870

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

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 GH1 p.Leu16Pro VAR_015801
2 GH1 p.Asp37Asn VAR_015802
3 GH1 p.Arg42Cys VAR_015803 rs71640273
4 GH1 p.Thr53Ile VAR_015804
5 GH1 p.Lys67Arg VAR_015805
6 GH1 p.Asn73Asp VAR_015806 rs71640276
7 GH1 p.Ser97Phe VAR_015807
8 GH1 p.Glu100Lys VAR_015808
9 GH1 p.Gln117Leu VAR_015810
10 GH1 p.Ser134Cys VAR_015811
11 GH1 p.Ser134Arg VAR_015812
12 GH1 p.Thr201Ala VAR_015814

Expression for Isolated Growth Hormone Deficiency, Type Ib

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

Pathways for Isolated Growth Hormone Deficiency, Type Ib

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

# Super pathways Score Top Affiliating Genes
1 13.43 VIPR2 SCTR PTH2R GRAP2 GLP2R GIPR
2
Show member pathways
13.2 VIPR2 SCTR PTH2R GLP2R GIPR GHRHR
3
Show member pathways
12.99 ADCYAP1R1 GHRH GHRHR GIPR GLP2R PTH2R
4
Show member pathways
12.32 GHRHR GHRH GH1 CACNG7
5
Show member pathways
12.17 VIPR2 SCTR PTH2R GLP2R GIPR GHRHR
6
Show member pathways
11.76 VIPR2 SCTR PTH2R GLP2R GIPR GHRHR
7 11.4 GRAP2 GHRH GH1 CACNG7
8 10.53 VIPR2 SCTR PTH2R GLP2R GIPR GHRHR

GO Terms for Isolated Growth Hormone Deficiency, Type Ib

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 9.9 VIPR2 TMEM181 SCTR PTH2R PAQR6 MRGPRF
2 membrane GO:0016020 9.9 VIPR2 TMEM181 SCTR PTH2R PAQR6 MRGPRF

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.1 ADCYAP1R1 GH1 GHRHR GIPR GLP2R GPR139
2 cell surface receptor signaling pathway GO:0007166 10 VIPR2 SCTR PTH2R GLP2R GIPR GHRHR
3 positive regulation of multicellular organism growth GO:0040018 9.91 GHRHR GHRH GH1
4 activation of adenylate cyclase activity GO:0007190 9.88 GHRHR GIPR VIPR2
5 G protein-coupled receptor signaling pathway GO:0007186 9.86 ADCYAP1R1 GHRH GHRHR GIPR GLP2R GPR139
6 positive regulation of cAMP-mediated signaling GO:0043950 9.85 SCTR GIPR ADCYAP1R1
7 negative regulation of bone resorption GO:0045779 9.84 GPR137B GPR137
8 positive regulation of growth hormone secretion GO:0060124 9.83 GHRHR GHRH
9 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.8 GHRHR GHRH GH1
10 growth hormone secretion GO:0030252 9.76 GHRHR GHRH
11 adenohypophysis development GO:0021984 9.67 GHRHR GHRH
12 positive regulation of hormone secretion GO:0046887 9.51 GHRHR GHRH
13 hormone secretion GO:0046879 9.48 GHRHR GHRH
14 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.47 VIPR2 SCTR PTH2R GLP2R GIPR GHRHR

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 10.13 VIPR2 SCTR PTH2R MRGPRF MRGPRE GPR139
2 G protein-coupled peptide receptor activity GO:0008528 9.8 ADCYAP1R1 GHRHR GIPR GLP2R PTH2R SCTR
3 transmembrane signaling receptor activity GO:0004888 9.76 VIPR2 SCTR PTH2R GLP2R GIPR GHRHR
4 vasoactive intestinal polypeptide receptor activity GO:0004999 9.62 VIPR2 ADCYAP1R1
5 peptide hormone binding GO:0017046 9.47 VIPR2 SCTR PTH2R GLP2R GIPR GHRHR

Sources for Isolated Growth Hormone Deficiency, Type Ib

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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