ACLSD
MCID: ACD008
MIFTS: 43

Acid-Labile Subunit Deficiency (ACLSD)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Acid-Labile Subunit Deficiency

MalaCards integrated aliases for Acid-Labile Subunit Deficiency:

Name: Acid-Labile Subunit Deficiency 58 76 38 30 6
Acid-Labile Subunit, Deficiency of 58 41
Growth Disorders 45 74
Aclsd 58 76
Short Stature Due to Primary Acid-Labile Subunit Deficiency 60
Decreased Levels of Acid Labile Subunit 74

Characteristics:

Orphanet epidemiological data:

60
short stature due to primary acid-labile subunit deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare endocrine diseases


External Ids:

OMIM 58 615961
KEGG 38 H01907
MeSH 45 D006130
ICD10 via Orphanet 35 E34.3
Orphanet 60 ORPHA140941

Summaries for Acid-Labile Subunit Deficiency

OMIM : 58 Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like growth factor I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations that are incongruent with an associated mild growth retardation (height, -2 to -3 SD before and during puberty). Pubertal delay in boys and insulin insensitivity are common findings (summary by Domene et al., 2011). (615961)

MalaCards based summary : Acid-Labile Subunit Deficiency, also known as acid-labile subunit, deficiency of, is related to silver-russell syndrome and growth hormone deficiency, and has symptoms including muscle weakness and polydipsia. An important gene associated with Acid-Labile Subunit Deficiency is IGFALS (Insulin Like Growth Factor Binding Protein Acid Labile Subunit), and among its related pathways/superpathways are Development IGF-1 receptor signaling and Glioblastoma Multiforme. Affiliated tissues include heart, and related phenotypes are delayed skeletal maturation and delayed puberty

UniProtKB/Swiss-Prot : 76 Acid-labile subunit deficiency: A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings.

Related Diseases for Acid-Labile Subunit Deficiency

Diseases related to Acid-Labile Subunit Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 30.4 IGF1 IGF2 IGFBP3
2 growth hormone deficiency 29.5 IGF1 IGFBP3
3 insulin-like growth factor i 29.4 IGF1 IGF2 IGFBP3
4 turner syndrome 29.1 IGF1 IGFBP3
5 acromegaly 28.8 IGF1 IGF2 IGFBP3
6 diabetes mellitus, noninsulin-dependent 28.3 IGF1 IGF2 IGFBP3
7 mulibrey nanism 11.5
8 three m syndrome 1 10.9
9 blount's disease 10.7
10 beckwith-wiedemann syndrome 10.6
11 spondyloepiphyseal dysplasia congenita 10.6
12 spondylocostal dysostosis 1, autosomal recessive 10.6
13 spondylocostal dysostosis 3, autosomal recessive 10.6
14 slipped capital femoral epiphysis 10.0 IGF1 IGFBP3
15 secondary adrenal insufficiency 10.0 IGF1 IGFBP3
16 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.0 IGF1 IGFBP3
17 diffuse idiopathic skeletal hyperostosis 10.0 IGF1 IGFBP3
18 marasmus 10.0 IGF1 IGFBP3
19 mammographic density 10.0 IGF1 IGFBP3
20 hyperpituitarism 10.0 IGF1 IGFBP3
21 isolated growth hormone deficiency, type ib 10.0 IGF1 IGFBP3
22 osteoporosis, juvenile 10.0 IGF1 IGFBP3
23 pituitary adenoma 1, multiple types 10.0 IGF1 IGFBP3
24 osteogenesis imperfecta, type i 10.0 IGF1 IGFBP3
25 exudative vitreoretinopathy 1 9.9 IGF1 IGFBP3
26 colorectal adenoma 9.9 IGF1 IGFBP3
27 nutritional deficiency disease 9.9 IGF1 IGFBP3
28 male reproductive organ cancer 9.9 IGF1 IGFBP3
29 hypopituitarism 9.9 IGF1 IGFBP3
30 pseudopapilledema 9.9 IGF1 IGF2
31 male reproductive system disease 9.9 IGF1 IGFBP3
32 fasting hypoglycemia 9.9 IGF1 IGF2
33 osteochondrosis 9.9 IGF1 IGF2
34 hallermann-streiff syndrome 9.9 IGF1 IGF2
35 rubeosis iridis 9.9 IGF1 IGF2
36 pancreas disease 9.8 IGF1 IGF2
37 microvascular complications of diabetes 1 9.8 IGF1 IGFBP3
38 ocular hyperemia 9.8 IGF2 IGFBP3
39 complete androgen insensitivity syndrome 9.8 IGF2 IGFBP3
40 hyperinsulinism 9.7 IGF1 IGFBP3
41 light fixation seizure syndrome 9.6
42 diabetes mellitus 9.6
43 anorexia nervosa 9.6 IGF1 IGFBP3
44 endocrine gland cancer 9.6 IGF2 IGFBP3
45 fetal macrosomia 9.6 IGF1 IGF2 IGFBP3
46 laron syndrome 9.6 IGF1 IGF2 IGFBP3
47 breast disease 9.5 IGF1 IGF2 IGFBP3
48 prader-willi syndrome 9.5 IGF1 IGF2 IGFBP3
49 large intestine cancer 9.5 IGF1 IGF2 IGFBP3
50 alzheimer disease 9.5

Graphical network of the top 20 diseases related to Acid-Labile Subunit Deficiency:



Diseases related to Acid-Labile Subunit Deficiency

Symptoms & Phenotypes for Acid-Labile Subunit Deficiency

Human phenotypes related to Acid-Labile Subunit Deficiency:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
2 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823
3 decreased serum insulin-like growth factor 1 60 33 hallmark (90%) Very frequent (99-80%) HP:0030353
4 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
5 truncal obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001956
6 insulin resistance 60 33 frequent (33%) Frequent (79-30%) HP:0000855
7 growth delay 60 Very frequent (99-80%)
8 mild postnatal growth retardation 33 HP:0001530
9 insulin insensitivity 33 HP:0008189
10 reduced insulin like growth factor binding protein acid labile subunit level 33 HP:0045046

Clinical features from OMIM:

615961

UMLS symptoms related to Acid-Labile Subunit Deficiency:


muscle weakness, polydipsia

MGI Mouse Phenotypes related to Acid-Labile Subunit Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.72 IGF1 IGF2 IGFALS IGFBP3 TRIM37
2 endocrine/exocrine gland MP:0005379 9.67 IGF1 IGF2 IGFBP3 TRIM37
3 limbs/digits/tail MP:0005371 9.56 IGF1 IGF2 IGFALS IGFBP3
4 muscle MP:0005369 9.46 IGF1 IGF2 IGFBP3 TRIM37
5 reproductive system MP:0005389 9.26 IGF1 IGF2 IGFALS TRIM37
6 skeleton MP:0005390 9.02 IGF1 IGF2 IGFALS IGFBP3 TRIM37

Drugs & Therapeutics for Acid-Labile Subunit Deficiency

Search Clinical Trials , NIH Clinical Center for Acid-Labile Subunit Deficiency

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: growth disorders

Genetic Tests for Acid-Labile Subunit Deficiency

Genetic tests related to Acid-Labile Subunit Deficiency:

# Genetic test Affiliating Genes
1 Acid-Labile Subunit Deficiency 30

Anatomical Context for Acid-Labile Subunit Deficiency

MalaCards organs/tissues related to Acid-Labile Subunit Deficiency:

42
Heart

Publications for Acid-Labile Subunit Deficiency

Articles related to Acid-Labile Subunit Deficiency:

# Title Authors Year
1
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency. ( 28445628 )
2017
2
Case report: low circulating IGF-I levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function. ( 21664162 )
2011
3
Acid-labile subunit deficiency and growth failure: description of two novel cases. ( 20389102 )
2010
4
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences. ( 19729943 )
2009
5
Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. ( 18303074 )
2008
6
Normal growth spurt and final height despite low levels of all forms of circulating insulin-like growth factor-I in a patient with acid-labile subunit deficiency. ( 17213728 )
2007
7
Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse. ( 16114275 )
2005

Variations for Acid-Labile Subunit Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Acid-Labile Subunit Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 IGFALS p.Cys60Ser VAR_072475
2 IGFALS p.Pro73Leu VAR_072476 rs766004600
3 IGFALS p.Leu134Gln VAR_072477
4 IGFALS p.Leu244Phe VAR_072479 rs774634302
5 IGFALS p.Asn276Ser VAR_072480 rs551618643
6 IGFALS p.Asp440Asn VAR_072482 rs776840046
7 IGFALS p.Cys540Arg VAR_072483 rs121909247
8 IGFALS p.Leu127Pro VAR_074071

ClinVar genetic disease variations for Acid-Labile Subunit Deficiency:

6 (show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 IGFALS NM_004970.2(IGFALS): c.103delG (p.Glu35Lysfs) deletion Pathogenic rs587776686 GRCh37 Chromosome 16, 1842316: 1842316
2 IGFALS NM_004970.2(IGFALS): c.103delG (p.Glu35Lysfs) deletion Pathogenic rs587776686 GRCh38 Chromosome 16, 1792315: 1792315
3 IGFALS NM_004970.2(IGFALS): c.1618T> C (p.Cys540Arg) single nucleotide variant Pathogenic rs121909247 GRCh37 Chromosome 16, 1840801: 1840801
4 IGFALS NM_004970.2(IGFALS): c.1618T> C (p.Cys540Arg) single nucleotide variant Pathogenic rs121909247 GRCh38 Chromosome 16, 1790800: 1790800
5 IGFALS NM_004970.2(IGFALS): c.583_591dup (p.Arg197_Glu198insSerLeuArg) duplication Pathogenic rs606231171 GRCh38 Chromosome 16, 1791827: 1791835
6 IGFALS NM_004970.2(IGFALS): c.583_591dup (p.Arg197_Glu198insSerLeuArg) duplication Pathogenic rs606231171 GRCh37 Chromosome 16, 1841828: 1841836
7 IGFALS NM_004970.2(IGFALS): c.*140C> T single nucleotide variant Uncertain significance rs886051773 GRCh38 Chromosome 16, 1790460: 1790460
8 IGFALS NM_004970.2(IGFALS): c.*140C> T single nucleotide variant Uncertain significance rs886051773 GRCh37 Chromosome 16, 1840461: 1840461
9 IGFALS NM_004970.2(IGFALS): c.1694T> C (p.Ile565Thr) single nucleotide variant Uncertain significance rs886051775 GRCh38 Chromosome 16, 1790724: 1790724
10 IGFALS NM_004970.2(IGFALS): c.1694T> C (p.Ile565Thr) single nucleotide variant Uncertain significance rs886051775 GRCh37 Chromosome 16, 1840725: 1840725
11 IGFALS NM_004970.2(IGFALS): c.1065G> A (p.Ala355=) single nucleotide variant Uncertain significance rs200778437 GRCh38 Chromosome 16, 1791353: 1791353
12 IGFALS NM_004970.2(IGFALS): c.1065G> A (p.Ala355=) single nucleotide variant Uncertain significance rs200778437 GRCh37 Chromosome 16, 1841354: 1841354
13 IGFALS NM_004970.2(IGFALS): c.684C> T (p.Asn228=) single nucleotide variant Uncertain significance rs370272076 GRCh38 Chromosome 16, 1791734: 1791734
14 IGFALS NM_004970.2(IGFALS): c.684C> T (p.Asn228=) single nucleotide variant Uncertain significance rs370272076 GRCh37 Chromosome 16, 1841735: 1841735
15 IGFALS NM_004970.2(IGFALS): c.229C> A (p.Gln77Lys) single nucleotide variant Uncertain significance rs886051779 GRCh38 Chromosome 16, 1792189: 1792189
16 IGFALS NM_004970.2(IGFALS): c.229C> A (p.Gln77Lys) single nucleotide variant Uncertain significance rs886051779 GRCh37 Chromosome 16, 1842190: 1842190
17 IGFALS NM_004970.2(IGFALS): c.-19A> G single nucleotide variant Benign rs3817902 GRCh38 Chromosome 16, 1793671: 1793671
18 IGFALS NM_004970.2(IGFALS): c.-19A> G single nucleotide variant Benign rs3817902 GRCh37 Chromosome 16, 1843672: 1843672
19 IGFALS NM_004970.2(IGFALS): c.1708G> A (p.Asp570Asn) single nucleotide variant Uncertain significance rs143070371 GRCh38 Chromosome 16, 1790710: 1790710
20 IGFALS NM_004970.2(IGFALS): c.1708G> A (p.Asp570Asn) single nucleotide variant Uncertain significance rs143070371 GRCh37 Chromosome 16, 1840711: 1840711
21 IGFALS NM_004970.2(IGFALS): c.1566G> A (p.Thr522=) single nucleotide variant Likely benign rs2230053 GRCh38 Chromosome 16, 1790852: 1790852
22 IGFALS NM_004970.2(IGFALS): c.1566G> A (p.Thr522=) single nucleotide variant Likely benign rs2230053 GRCh37 Chromosome 16, 1840853: 1840853
23 IGFALS NM_004970.2(IGFALS): c.1478G> A (p.Arg493His) single nucleotide variant Uncertain significance rs200380381 GRCh38 Chromosome 16, 1790940: 1790940
24 IGFALS NM_004970.2(IGFALS): c.1478G> A (p.Arg493His) single nucleotide variant Uncertain significance rs200380381 GRCh37 Chromosome 16, 1840941: 1840941
25 IGFALS NM_004970.2(IGFALS): c.1466T> C (p.Val489Ala) single nucleotide variant Uncertain significance rs886051776 GRCh38 Chromosome 16, 1790952: 1790952
26 IGFALS NM_004970.2(IGFALS): c.1466T> C (p.Val489Ala) single nucleotide variant Uncertain significance rs886051776 GRCh37 Chromosome 16, 1840953: 1840953
27 IGFALS NM_004970.2(IGFALS): c.1425G> A (p.Ala475=) single nucleotide variant Likely benign rs9282729 GRCh38 Chromosome 16, 1790993: 1790993
28 IGFALS NM_004970.2(IGFALS): c.1425G> A (p.Ala475=) single nucleotide variant Likely benign rs9282729 GRCh37 Chromosome 16, 1840994: 1840994
29 IGFALS NM_004970.2(IGFALS): c.1386C> T (p.Tyr462=) single nucleotide variant Benign rs17559 GRCh38 Chromosome 16, 1791032: 1791032
30 IGFALS NM_004970.2(IGFALS): c.1386C> T (p.Tyr462=) single nucleotide variant Benign rs17559 GRCh37 Chromosome 16, 1841033: 1841033
31 IGFALS NM_004970.2(IGFALS): c.1266C> T (p.Leu422=) single nucleotide variant Uncertain significance rs36068954 GRCh38 Chromosome 16, 1791152: 1791152
32 IGFALS NM_004970.2(IGFALS): c.1266C> T (p.Leu422=) single nucleotide variant Uncertain significance rs36068954 GRCh37 Chromosome 16, 1841153: 1841153
33 IGFALS NM_004970.2(IGFALS): c.920C> T (p.Pro307Leu) single nucleotide variant Uncertain significance rs34297640 GRCh38 Chromosome 16, 1791498: 1791498
34 IGFALS NM_004970.2(IGFALS): c.920C> T (p.Pro307Leu) single nucleotide variant Uncertain significance rs34297640 GRCh37 Chromosome 16, 1841499: 1841499
35 IGFALS NM_004970.2(IGFALS): c.917G> A (p.Arg306Gln) single nucleotide variant Uncertain significance rs201176815 GRCh38 Chromosome 16, 1791501: 1791501
36 IGFALS NM_004970.2(IGFALS): c.917G> A (p.Arg306Gln) single nucleotide variant Uncertain significance rs201176815 GRCh37 Chromosome 16, 1841502: 1841502
37 IGFALS NM_004970.2(IGFALS): c.872G> A (p.Gly291Asp) single nucleotide variant Uncertain significance rs761807331 GRCh38 Chromosome 16, 1791546: 1791546
38 IGFALS NM_004970.2(IGFALS): c.872G> A (p.Gly291Asp) single nucleotide variant Uncertain significance rs761807331 GRCh37 Chromosome 16, 1841547: 1841547
39 IGFALS NM_004970.2(IGFALS): c.634G> A (p.Ala212Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs368097770 GRCh38 Chromosome 16, 1791784: 1791784
40 IGFALS NM_004970.2(IGFALS): c.634G> A (p.Ala212Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs368097770 GRCh37 Chromosome 16, 1841785: 1841785
41 IGFALS NM_004970.2(IGFALS): c.593A> T (p.Glu198Val) single nucleotide variant Uncertain significance rs184411457 GRCh38 Chromosome 16, 1791825: 1791825
42 IGFALS NM_004970.2(IGFALS): c.593A> T (p.Glu198Val) single nucleotide variant Uncertain significance rs184411457 GRCh37 Chromosome 16, 1841826: 1841826
43 IGFALS NM_004970.2(IGFALS): c.438C> T (p.Pro146=) single nucleotide variant Uncertain significance rs778824150 GRCh38 Chromosome 16, 1791980: 1791980
44 IGFALS NM_004970.2(IGFALS): c.438C> T (p.Pro146=) single nucleotide variant Uncertain significance rs778824150 GRCh37 Chromosome 16, 1841981: 1841981
45 IGFALS NM_004970.2(IGFALS): c.371T> C (p.Leu124Pro) single nucleotide variant Uncertain significance rs758306817 GRCh38 Chromosome 16, 1792047: 1792047
46 IGFALS NM_004970.2(IGFALS): c.371T> C (p.Leu124Pro) single nucleotide variant Uncertain significance rs758306817 GRCh37 Chromosome 16, 1842048: 1842048
47 IGFALS NM_004970.2(IGFALS): c.340G> A (p.Glu114Lys) single nucleotide variant Uncertain significance rs886051778 GRCh38 Chromosome 16, 1792078: 1792078
48 IGFALS NM_004970.2(IGFALS): c.340G> A (p.Glu114Lys) single nucleotide variant Uncertain significance rs886051778 GRCh37 Chromosome 16, 1842079: 1842079
49 IGFALS NM_004970.2(IGFALS): c.210T> C (p.Asp70=) single nucleotide variant Benign rs3751893 GRCh38 Chromosome 16, 1792208: 1792208
50 IGFALS NM_004970.2(IGFALS): c.210T> C (p.Asp70=) single nucleotide variant Benign rs3751893 GRCh37 Chromosome 16, 1842209: 1842209

Copy number variations for Acid-Labile Subunit Deficiency from CNVD:

7 (show all 17)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 48349 11 1 2800000 Microduplications ICR growth disorder
2 48352 11 1 2800000 Microduplications KCNQ1OT1 growth disorder
3 186573 4 36900000 88200000 Microdeletion growth disorder
4 189124 4 70547247 84066553 Microdeletion growth disorder
5 189597 4 76077557 85788996 Microdeletion growth disorder
6 189653 4 76949115 83601083 Microdeletion growth disorder
7 189689 4 77174381 86773353 Microdeletion growth disorder
8 189830 4 78995025 84459549 Microdeletion growth disorder
9 189926 4 80293554 86615654 Microdeletion growth disorder
10 189961 4 80926692 84215893 Microdeletion growth disorder
11 190015 4 81706999 96867539 Microdeletion growth disorder
12 190036 4 82228861 82345239 Deletion PRKG2 growth disorder
13 190040 4 82228875 86711060 Microdeletion growth disorder
14 190059 4 82567243 82612085 Deletion RASGEF1B growth disorder
15 190110 4 83493491 83514173 Deletion HNRPD growth disorder
16 190119 4 83563371 83570402 Deletion HNRPDL growth disorder
17 190124 4 83570787 83601264 Deletion ENOPH1 growth disorder

Expression for Acid-Labile Subunit Deficiency

Search GEO for disease gene expression data for Acid-Labile Subunit Deficiency.

Pathways for Acid-Labile Subunit Deficiency

GO Terms for Acid-Labile Subunit Deficiency

Cellular components related to Acid-Labile Subunit Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 IGF1 IGF2 IGFALS IGFBP3
2 platelet alpha granule lumen GO:0031093 9.16 IGF1 IGF2
3 insulin-like growth factor binding protein complex GO:0016942 8.96 IGF1 IGFBP3
4 insulin-like growth factor ternary complex GO:0042567 8.8 IGF1 IGFALS IGFBP3

Biological processes related to Acid-Labile Subunit Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.46 IGF1 IGF2
2 osteoblast differentiation GO:0001649 9.43 IGF2 IGFBP3
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.4 IGF1 IGF2
4 positive regulation of activated T cell proliferation GO:0042104 9.37 IGF1 IGF2
5 positive regulation of mitotic nuclear division GO:0045840 9.32 IGF1 IGF2
6 positive regulation of glycogen biosynthetic process GO:0045725 9.26 IGF1 IGF2
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.16 IGF1 IGFBP3
8 positive regulation of MAPK cascade GO:0043410 9.13 IGF1 IGF2 IGFBP3
9 cellular protein metabolic process GO:0044267 8.92 IGF1 IGF2 IGFALS IGFBP3

Molecular functions related to Acid-Labile Subunit Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.32 IGF1 IGF2
2 hormone activity GO:0005179 9.26 IGF1 IGF2
3 insulin-like growth factor binding GO:0005520 9.16 IGFALS IGFBP3
4 insulin receptor binding GO:0005158 8.96 IGF1 IGF2
5 insulin-like growth factor receptor binding GO:0005159 8.62 IGF1 IGF2

Sources for Acid-Labile Subunit Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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