MCID: SMP003
MIFTS: 54

Simpson-Golabi-Behmel Syndrome

Categories: Rare diseases, Fetal diseases, Nephrological diseases, Neuronal diseases, Genetic diseases, Mental diseases

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

MalaCards integrated aliases for Simpson-Golabi-Behmel Syndrome:

Name: Simpson-Golabi-Behmel Syndrome 12 49 24 36 28 41 14
Simpson Dysmorphia Syndrome 12 49
Golabi-Rosen Syndrome 12 49
Bulldog Syndrome 12 49
Sgbs1 49 24
Sgbs 49 24
Dysplasia Gigantism Syndrome, X-Linked 49
Mental Retardation-Overgrowth Syndrome 24
X-Linked Dysplasia Gigantism Syndrome 12
Simpson-Golabi-Behmel Syndrome Type 1 24
Dgsx Golabi-Rosen Syndrome 12
Simpson Dysplasia Syndrome 24
Sara Angers Syndrome 12
Simpson Syndrome 24
Sgb Syndrome 12
Dgsx 24
Sdys 24

Characteristics:

HPO:

31
simpson-golabi-behmel syndrome:
Mortality/Aging death in infancy


Classifications:



Summaries for Simpson-Golabi-Behmel Syndrome

NIH Rare Diseases : 49 Simpson-Golabi-Behmel syndrome (SGBS) is a condition that affects many parts of the body and occurs primarily in males. It is an overgrowth syndrome, which means that affected individuals have macrosomia and continue to grow and gain weight at an unusual rate. The severity varies from very mild forms in carrier females to infantile lethal forms in affected males. Individuals typically have distinctive facial features including hypertelorism, macrostomia, macroglossia, a broad nose with an upturned tip, and palatal abnormalities. Other, variable findings include extra nipples, diastasis recti, umbilical hernia, congenital heart defects, renal defects, gastrointestinal anomalies, skeletal anomalies, hand anomalies, genitourinary abnormalities, and hepatosplenomegaly. Some people with the condition have mild to severe intellectual disability. About 10 percent of people with SGBS develop tumors in early childhood, including Wilms tumor and neuroblastoma. Some cases of SGBS are caused by mutations in the GPC3 gene and in other cases, the cause is unknown. It is inherited in an X-linked recessive manner. Last updated: 2/15/2011

MalaCards based summary : Simpson-Golabi-Behmel Syndrome, also known as simpson dysmorphia syndrome, is related to simpson-golabi-behmel syndrome, type 1 and simpson-golabi-behmel syndrome, type 2, and has symptoms including multicystic kidney dysplasia, inguinal hernia and cryptorchidism. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (Glypican 3), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include heart, pancreatic islet and kidney, and related phenotypes are craniofacial and digestive/alimentary

Disease Ontology : 12 An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.

Genetics Home Reference : 24 Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely. People with mild cases often live into adulthood.

Related Diseases for Simpson-Golabi-Behmel Syndrome

Diseases in the Simpson-Golabi-Behmel Syndrome family:

Simpson-Golabi-Behmel Syndrome, Type 2 Simpson-Golabi-Behmel Syndrome, Type 1

Diseases related to Simpson-Golabi-Behmel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome, type 1 35.1 GPC3 GPC4
2 simpson-golabi-behmel syndrome, type 2 34.9 OFD1 PIGA
3 hepatoblastoma 32.3 CTNNB1 GPC3 IGF2
4 ohdo syndrome, sbbys variant 12.1
5 blepharophimosis intellectual disability syndromes 11.6
6 genitopatellar syndrome 11.2
7 ohdo syndrome, say-barber-biesecker-young-simpson variant 11.1
8 hepatocellular carcinoma 10.3
9 cardiac arrhythmia 10.3
10 sotos syndrome 1 10.3
11 cleft palate, isolated 10.3
12 beckwith-wiedemann syndrome 10.3
13 diaphragmatic hernia, congenital 10.3
14 medulloblastoma 10.3
15 bile duct cysts 10.3
16 alpha-fetoprotein deficiency 10.3
17 hydrops fetalis, nonimmune, and/or atrial septal defect 10.3
18 craniosynostosis 10.3
19 hypospadias 10.3
20 synostosis 10.3
21 prostatitis 10.3
22 laryngitis 10.3
23 carotid artery dissection 10.3
24 diffuse neonatal hemangiomatosis 10.3
25 hydrops fetalis 10.3
26 renal dysplasia 10.3
27 hepatic adenomas, familial 10.3 CTNNB1 GPC3
28 embryonal sarcoma 10.2 CTNNB1 GPC3
29 body dysmorphic disorder 10.1 GPC1 GPC3 GPC6
30 omodysplasia 10.1 GPC1 GPC3 GPC6
31 blepharophimosis 9.9
32 hypothyroidism 9.9
33 gigantism 9.8
34 frozen shoulder 9.8 CTNNB1 IGF2
35 wilms tumor 5 9.8 CTNNB1 GPC3 IGF2
36 proteus syndrome 9.7 GPC3 IGF2
37 gastrointestinal system cancer 9.7 CTNNB1 GPC3 IGF2
38 kat6b-related disorders 9.7
39 wilms tumor 1 9.6 CTNNB1 GPC3 GPC4 IGF2
40 endocrine pancreas disease 9.5 DPP4 IGF2

Graphical network of the top 20 diseases related to Simpson-Golabi-Behmel Syndrome:



Diseases related to Simpson-Golabi-Behmel Syndrome

Symptoms & Phenotypes for Simpson-Golabi-Behmel Syndrome

Human phenotypes related to Simpson-Golabi-Behmel Syndrome:

31 (show top 50) (show all 74)
# Description HPO Frequency HPO Source Accession
1 multicystic kidney dysplasia 31 hallmark (90%) HP:0000003
2 inguinal hernia 31 frequent (33%) HP:0000023
3 cryptorchidism 31 hallmark (90%) HP:0000028
4 hypospadias 31 occasional (7.5%) HP:0000047
5 hydroureter 31 frequent (33%) HP:0000072
6 ureteral duplication 31 frequent (33%) HP:0000073
7 tall stature 31 hallmark (90%) HP:0000098
8 hydronephrosis 31 frequent (33%) HP:0000126
9 wide mouth 31 hallmark (90%) HP:0000154
10 macroglossia 31 hallmark (90%) HP:0000158
11 cleft palate 31 frequent (33%) HP:0000175
12 cleft upper lip 31 occasional (7.5%) HP:0000204
13 macrocephaly 31 hallmark (90%) HP:0000256
14 coarse facial features 31 hallmark (90%) HP:0000280
15 epicanthus 31 occasional (7.5%) HP:0000286
16 mandibular prognathia 31 hallmark (90%) HP:0000303
17 hypertelorism 31 hallmark (90%) HP:0000316
18 low-set, posteriorly rotated ears 31 frequent (33%) HP:0000368
19 wide nasal bridge 31 frequent (33%) HP:0000431
20 anteverted nares 31 frequent (33%) HP:0000463
21 webbed neck 31 frequent (33%) HP:0000465
22 short neck 31 frequent (33%) HP:0000470
23 downslanted palpebral fissures 31 frequent (33%) HP:0000494
24 pectus excavatum 31 frequent (33%) HP:0000767
25 abnormality of the ribs 31 hallmark (90%) HP:0000772
26 congenital diaphragmatic hernia 31 occasional (7.5%) HP:0000776
27 postaxial hand polydactyly 31 hallmark (90%) HP:0001162
28 intellectual disability 31 occasional (7.5%) HP:0001249
29 seizures 31 occasional (7.5%) HP:0001250
30 muscular hypotonia 31 occasional (7.5%) HP:0001252
31 global developmental delay 31 occasional (7.5%) HP:0001263
32 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
33 dandy-walker malformation 31 occasional (7.5%) HP:0001305
34 congenital hip dislocation 31 occasional (7.5%) HP:0001374
35 umbilical hernia 31 frequent (33%) HP:0001537
36 omphalocele 31 frequent (33%) HP:0001539
37 polyhydramnios 31 frequent (33%) HP:0001561
38 hoarse voice 31 occasional (7.5%) HP:0001609
39 ventricular septal defect 31 hallmark (90%) HP:0001629
40 atrial septal defect 31 frequent (33%) HP:0001631
41 cardiomyopathy 31 occasional (7.5%) HP:0001638
42 prolonged qt interval 31 frequent (33%) HP:0001657
43 splenomegaly 31 hallmark (90%) HP:0001744
44 polysplenia 31 occasional (7.5%) HP:0001748
45 talipes equinovarus 31 occasional (7.5%) HP:0001762
46 broad foot 31 hallmark (90%) HP:0001769
47 toe syndactyly 31 frequent (33%) HP:0001770
48 short foot 31 hallmark (90%) HP:0001773
49 small nail 31 frequent (33%) HP:0001792
50 short toe 31 hallmark (90%) HP:0001831

MGI Mouse Phenotypes related to Simpson-Golabi-Behmel Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.73 CTNNB1 GPC3 GPC6 IGF2 OFD1 PIGA
2 digestive/alimentary MP:0005381 9.63 CTNNB1 GPC3 GPC6 IGF2 OFD1 PIGA
3 limbs/digits/tail MP:0005371 9.35 CTNNB1 GPC3 GPC6 IGF2 OFD1
4 skeleton MP:0005390 9.23 CTNNB1 GPC3 GPC5 GPC6 IGF2 OFD1

Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome

Search Clinical Trials , NIH Clinical Center for Simpson-Golabi-Behmel Syndrome

Cochrane evidence based reviews: simpson-golabi-behmel syndrome

Genetic Tests for Simpson-Golabi-Behmel Syndrome

Genetic tests related to Simpson-Golabi-Behmel Syndrome:

# Genetic test Affiliating Genes
1 Simpson-Golabi-Behmel Syndrome 28 GPC3 GPC4

Anatomical Context for Simpson-Golabi-Behmel Syndrome

MalaCards organs/tissues related to Simpson-Golabi-Behmel Syndrome:

38
Heart, Pancreatic Islet, Kidney, Tongue, Liver, Bone, Prostate

Publications for Simpson-Golabi-Behmel Syndrome

Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50) (show all 88)
# Title Authors Year
1
Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis? ( 29372559 )
2018
2
Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome. ( 28371070 )
2017
3
Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome. ( 29240237 )
2017
4
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue. ( 27739211 )
2017
5
Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome. ( 28746062 )
2017
6
First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray. ( 28469860 )
2017
7
Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules. ( 28600484 )
2017
8
Rare dental manifestation in Simpson-Golabi-Behmel syndrome. ( 26742178 )
2016
9
Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications. ( 26847959 )
2016
10
Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome. ( 27790374 )
2016
11
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. ( 27589329 )
2016
12
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome. ( 26692054 )
2016
13
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome. ( 27612164 )
2016
14
Marsupialisation of kerastocystic odontogenic tumours in a patient with Simpson-Golabi-Behmel syndrome. ( 27449335 )
2016
15
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. ( 26915941 )
2016
16
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. ( 26545172 )
2015
17
Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. ( 25073799 )
2014
18
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. ( 24459012 )
2014
19
A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return. ( 25804025 )
2014
20
Simpson-golabi-behmel syndrome types I and II. ( 25238977 )
2014
21
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. ( 25245233 )
2014
22
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. ( 24214682 )
2014
23
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. ( 23606591 )
2013
24
A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle. ( 24115482 )
2013
25
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. ( 24166811 )
2013
26
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. ( 23463737 )
2013
27
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. ( 24357529 )
2013
28
Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report. ( 24169032 )
2013
29
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. ( 22795092 )
2012
30
Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. ( 22893378 )
2012
31
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia. ( 22807161 )
2012
32
Simpson-Golabi-Behmel syndrome associated with cleft palate. ( 21959466 )
2011
33
The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story. ( 21204223 )
2011
34
A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review. ( 21362501 )
2011
35
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. ( 20950395 )
2011
36
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. ( 20683991 )
2010
37
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. ( 21434539 )
2010
38
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. ( 21082656 )
2010
39
Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome. ( 19372699 )
2009
40
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. ( 19842194 )
2009
41
Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child. ( 19681434 )
2009
42
Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian hedgehog. ( 19590577 )
2009
43
A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface. ( 19215053 )
2009
44
New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome. ( 19631996 )
2009
45
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. ( 18203194 )
2008
46
Speech and language in Simpson-Golabi-Behmel syndrome: a case report. ( 18619000 )
2008
47
Germinal mosaicism in Simpson-Golabi-Behmel syndrome. ( 17850639 )
2007
48
The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. ( 17549790 )
2007
49
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. ( 17603795 )
2007
50
Expanding the clinical picture of Simpson-Golabi-Behmel syndrome. ( 16458828 )
2006

Variations for Simpson-Golabi-Behmel Syndrome

ClinVar genetic disease variations for Simpson-Golabi-Behmel Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPC3 NM_004484.3(GPC3): c.194_206delGTCTCCCTAAGGG (p.Cys65Serfs) deletion Pathogenic rs869025181 GRCh37 Chromosome X, 133087208: 133087220
2 GPC3 NM_004484.3(GPC3): c.1414_1573del160 (p.Leu472Asnfs) deletion Pathogenic
3 GPC3 NM_004484.3(GPC3): c.886T> A (p.Trp296Arg) single nucleotide variant Pathogenic rs104894854 GRCh37 Chromosome X, 132887655: 132887655
4 GPC3 NM_004484.3(GPC3): c.1292+1G> T single nucleotide variant Pathogenic rs869025182 GRCh37 Chromosome X, 132826396: 132826396
5 GPC3 NM_004484.3(GPC3): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs104894855 GRCh37 Chromosome X, 132887946: 132887946
6 GPC3 NM_004484.3(GPC3): c.(1293_1293)-76_(1413_1413)del deletion Pathogenic GRCh38 Chromosome X, 133661675: 133661926
7 GPC3 NM_004484.3(GPC3): c.337+1G> A single nucleotide variant Pathogenic rs869025183 GRCh37 Chromosome X, 133087076: 133087076
8 GPC3 NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs122453121 GRCh37 Chromosome X, 132833930: 132833930
9 GPC3 NM_004484.3(GPC3): c.1666G> A (p.Gly556Arg) single nucleotide variant Pathogenic rs267606850 GRCh37 Chromosome X, 132670229: 132670229
10 GPC3 GRCh37/hg19 Xq26.2(chrX: 132834006-132986815) copy number loss Pathogenic GRCh37 Chromosome X, 132834006: 132986815

Expression for Simpson-Golabi-Behmel Syndrome

Search GEO for disease gene expression data for Simpson-Golabi-Behmel Syndrome.

Pathways for Simpson-Golabi-Behmel Syndrome

Pathways related to Simpson-Golabi-Behmel Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 FABP4 GPC1 GPC3 GPC4 GPC5 GPC6
2
Show member pathways
12.58 GPC1 GPC3 GPC4 GPC5 GPC6
3
Show member pathways
12.37 GPC1 GPC3 GPC4 GPC5 GPC6
4
Show member pathways
12.23 GPC1 GPC3 GPC4 GPC5 GPC6
5
Show member pathways
12.22 GPC1 GPC3 GPC5 GPC6
6
Show member pathways
12.04 CTNNB1 GPC1 GPC3 GPC5 GPC6
7 12.01 CTNNB1 GPC1 GPC3 IGF2
8
Show member pathways
11.88 GPC1 GPC3 GPC4 GPC5 GPC6
9
Show member pathways
11.58 CTNNB1 GPC1 GPC3 GPC5 GPC6
10
Show member pathways
11.19 GPC1 GPC3 GPC4 GPC5 GPC6

GO Terms for Simpson-Golabi-Behmel Syndrome

Cellular components related to Simpson-Golabi-Behmel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.92 CPXM1 DPP4 GPC1 GPC3 GPC4 GPC5
2 extracellular space GO:0005615 9.91 CPXM1 GPC1 GPC3 GPC4 GPC5 GPC6
3 proteinaceous extracellular matrix GO:0005578 9.65 GPC1 GPC3 GPC4 GPC5 GPC6
4 anchored component of membrane GO:0031225 9.55 GPC1 GPC3 GPC4 GPC5 GPC6
5 Golgi lumen GO:0005796 9.35 GPC1 GPC3 GPC4 GPC5 GPC6
6 lysosomal lumen GO:0043202 9.02 GPC1 GPC3 GPC4 GPC5 GPC6

Biological processes related to Simpson-Golabi-Behmel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.65 GPC1 GPC3 GPC4 GPC5 GPC6
2 glycosaminoglycan biosynthetic process GO:0006024 9.55 GPC1 GPC3 GPC4 GPC5 GPC6
3 embryonic hindlimb morphogenesis GO:0035116 9.46 CTNNB1 GPC3
4 bile acid biosynthetic process GO:0006699 9.43 OSBPL2 OSBPL3
5 osteoclast differentiation GO:0030316 9.4 CTNNB1 GPC3
6 anterior/posterior axis specification GO:0009948 9.37 CTNNB1 GPC3
7 glycosaminoglycan metabolic process GO:0030203 9.35 GPC1 GPC3 GPC4 GPC5 GPC6
8 sterol transport GO:0015918 9.32 OSBPL2 OSBPL3
9 glycosaminoglycan catabolic process GO:0006027 9.02 GPC1 GPC3 GPC4 GPC5 GPC6

Molecular functions related to Simpson-Golabi-Behmel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sterol transporter activity GO:0015248 9.16 OSBPL2 OSBPL3
2 heparan sulfate proteoglycan binding GO:0043395 9.02 GPC1 GPC3 GPC4 GPC5 GPC6
3 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway GO:1904929 8.96 GPC4 GPC6

Sources for Simpson-Golabi-Behmel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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