DGSX
MCID: SMP003
MIFTS: 50

Simpson-Golabi-Behmel Syndrome (DGSX)

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

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

MalaCards integrated aliases for Simpson-Golabi-Behmel Syndrome:

Name: Simpson-Golabi-Behmel Syndrome 53 25 37 29 6
Sgbs1 53 25
Sgbs 53 25
Dysplasia Gigantism Syndrome, X-Linked 53
Mental Retardation-Overgrowth Syndrome 25
Simpson-Golabi-Behmel Syndrome Type 1 25
Syndrome, Simpson-Golabi-Behmel 40
Simpson Dysmorphia Syndrome 53
Simpson Dysplasia Syndrome 25
Golabi-Rosen Syndrome 53
Bulldog Syndrome 53
Simpson Syndrome 25
Dgsx 25
Sdys 25

Characteristics:

HPO:

32
simpson-golabi-behmel syndrome:
Mortality/Aging death in infancy


Classifications:



Summaries for Simpson-Golabi-Behmel Syndrome

NIH Rare Diseases : 53 Simpson-Golabi-Behmel syndrome (SGBS) is a condition that affects many parts of the body and occurs primarily in males. SGBS is an overgrowth disorder, meaning that people with the disease are larger than average at birth (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. The infantile lethal form of SGBS is sometimes known as SGBS type 2. People with SGBS typically have distinctive facial features, including a large distance between the eyes (hypertelorism), an unusually wide mouth (macrostomia) with a large tongue (macroglossia), and abnormalities of the roof of the mouth (palate). Other, findings include extra nipples, various birth defects such as a protrusion of the lining of the abdomen through the area around the belly button (umbilical hernia), and skeletal anomalies. Some people with the condition have a mild to severe intellectual disability. About 10 percent of people with SGBS develop tumors in early childhood, including a rare type of kidney cancer (Wilms tumor) and cancer of the nerve tissue (neuroblastoma). SGBS can be caused by mutations in the GPC3 and GPC4 genes. Mutations in other genes have been studied, but have in most instances have only been described in one person or one family. In other cases, the cause is unknown. SGBS is inherited in an X-linked manner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person�??s symptoms.

MalaCards based summary : Simpson-Golabi-Behmel Syndrome, also known as sgbs1, is related to simpson-golabi-behmel syndrome, type 1 and simpson-golabi-behmel syndrome, type 2. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (Glypican 3), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and Diseases of glycosylation. Affiliated tissues include kidney, tongue and eye, and related phenotypes are macrocephaly and hypertelorism

Genetics Home Reference : 25 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 46)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome, type 1 34.8 GPC3 GPC4
2 simpson-golabi-behmel syndrome, type 2 34.7 OFD1 PIGA
3 hepatoblastoma 32.8 CTNNB1 GPC3
4 ohdo syndrome, sbbys variant 12.2
5 blepharophimosis intellectual disability syndromes 12.0
6 genitopatellar syndrome 11.4
7 ohdo syndrome, say-barber-biesecker-young-simpson variant 11.3
8 hepatocellular carcinoma 10.5
9 sotos syndrome 1 10.5
10 cleft palate, isolated 10.5
11 beckwith-wiedemann syndrome 10.5
12 diaphragmatic hernia, congenital 10.5
13 attention deficit-hyperactivity disorder 10.5
14 medulloblastoma 10.5
15 bile duct cysts 10.5
16 leukemia, acute lymphoblastic 10.5
17 hydrops fetalis, nonimmune, and/or atrial septal defect 10.5
18 craniosynostosis 10.5
19 leukemia 10.5
20 lymphocytic leukemia 10.5
21 hypospadias 10.5
22 synostosis 10.5
23 carotid artery dissection 10.5
24 diffuse neonatal hemangiomatosis 10.5
25 fetal edema 10.5
26 hydrops fetalis 10.5
27 pulmonary venous return anomaly 10.5
28 renal dysplasia 10.5
29 schizophrenia 10.1
30 hypothyroidism 10.1
31 skin disease 10.1
32 hypoxia 10.1
33 joubert syndrome 10 10.1 GPC3 OFD1
34 congenital hypothyroidism 10.0
35 blepharophimosis 10.0
36 neonatal hypothyroidism 10.0
37 hepatic adenomas, familial 10.0 CTNNB1 GPC3
38 gigantism 10.0
39 embryonal sarcoma 9.9 CTNNB1 GPC3
40 gastrointestinal system cancer 9.9 CTNNB1 GPC3
41 autism 9.8
42 autism spectrum disorder 9.8
43 heart disease 9.8
44 kat6b-related disorders 9.8
45 endocrine gland cancer 9.8 CTNNB1 GPC3
46 wilms tumor 1 9.8 CTNNB1 GPC3 GPC4

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:

32 (show top 50) (show all 74)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 hallmark (90%) HP:0000256
2 hypertelorism 32 hallmark (90%) HP:0000316
3 short neck 32 frequent (33%) HP:0000470
4 pectus excavatum 32 frequent (33%) HP:0000767
5 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
6 finger syndactyly 32 frequent (33%) HP:0006101
7 intellectual disability 32 occasional (7.5%) HP:0001249
8 seizures 32 occasional (7.5%) HP:0001250
9 muscular hypotonia 32 occasional (7.5%) HP:0001252
10 neurological speech impairment 32 frequent (33%) HP:0002167
11 scoliosis 32 frequent (33%) HP:0002650
12 inguinal hernia 32 frequent (33%) HP:0000023
13 macroglossia 32 hallmark (90%) HP:0000158
14 coarse facial features 32 hallmark (90%) HP:0000280
15 mandibular prognathia 32 hallmark (90%) HP:0000303
16 global developmental delay 32 occasional (7.5%) HP:0001263
17 splenomegaly 32 hallmark (90%) HP:0001744
18 hepatomegaly 32 hallmark (90%) HP:0002240
19 abnormality of the helix 32 frequent (33%) HP:0011039
20 wide nasal bridge 32 frequent (33%) HP:0000431
21 umbilical hernia 32 frequent (33%) HP:0001537
22 short nose 32 frequent (33%) HP:0003196
23 anteverted nares 32 frequent (33%) HP:0000463
24 broad thumb 32 frequent (33%) HP:0011304
25 hypoglycemia 32 frequent (33%) HP:0001943
26 cleft palate 32 frequent (33%) HP:0000175
27 aplasia/hypoplasia of the abdominal wall musculature 32 frequent (33%) HP:0010318
28 epicanthus 32 occasional (7.5%) HP:0000286
29 short foot 32 hallmark (90%) HP:0001773
30 cryptorchidism 32 hallmark (90%) HP:0000028
31 webbed neck 32 frequent (33%) HP:0000465
32 high, narrow palate 32 frequent (33%) HP:0002705
33 atrial septal defect 32 frequent (33%) HP:0001631
34 prolonged qt interval 32 frequent (33%) HP:0001657
35 short toe 32 hallmark (90%) HP:0001831
36 cardiomyopathy 32 occasional (7.5%) HP:0001638
37 congenital hip dislocation 32 occasional (7.5%) HP:0001374
38 talipes equinovarus 32 occasional (7.5%) HP:0001762
39 wide mouth 32 hallmark (90%) HP:0000154
40 hypospadias 32 occasional (7.5%) HP:0000047
41 clinodactyly of the 5th finger 32 frequent (33%) HP:0004209
42 small nail 32 frequent (33%) HP:0001792
43 bundle branch block 32 frequent (33%) HP:0011710
44 multicystic kidney dysplasia 32 hallmark (90%) HP:0000003
45 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
46 downslanted palpebral fissures 32 frequent (33%) HP:0000494
47 polyhydramnios 32 frequent (33%) HP:0001561
48 ventricular septal defect 32 hallmark (90%) HP:0001629
49 abnormality of the ribs 32 hallmark (90%) HP:0000772
50 hypoplasia of penis 32 occasional (7.5%) HP:0008736

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 CTNNB1 GPC3 OFD1 PIGA
2 digestive/alimentary MP:0005381 9.26 CTNNB1 GPC3 OFD1 PIGA
3 embryo MP:0005380 8.92 CTNNB1 GPC3 OFD1 PIGA

Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome

Search Clinical Trials , NIH Clinical Center for 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 29 GPC3 GPC4

Anatomical Context for Simpson-Golabi-Behmel Syndrome

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

41
Kidney, Tongue, Eye, Pancreatic Islet, Adipocyte, Bone, Heart

Publications for Simpson-Golabi-Behmel Syndrome

Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50) (show all 101)
# Title Authors Year
1
Simpson-Golabi-Behmel syndrome human adipocytes reveal a changing phenotype throughout differentiation. ( 29574488 )
2018
2
Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson-Golabi-Behmel Syndrome: Expansion of the Clinical Spectrum. ( 29652239 )
2018
3
Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome. ( 29737011 )
2018
4
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. ( 29637653 )
2018
5
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
6
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1. ( 30048822 )
2018
7
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases. ( 30158844 )
2018
8
For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome. ( 30371035 )
2018
9
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. ( 30447178 )
2018
10
In vitro profiling of volatile organic compounds released by Simpson-Golabi-Behmel syndrome adipocytes. ( 30537625 )
2018
11
Synchronous occurrence of multiple distinct jaw lesions in Simpson-Golabi-Behmel Syndrome: A case report. ( 30553040 )
2018
12
Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome". ( 29057530 )
2017
13
Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome. ( 28371070 )
2017
14
Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome. ( 29240237 )
2017
15
Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome. ( 28746062 )
2017
16
First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray. ( 28469860 )
2017
17
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue. ( 27739211 )
2017
18
Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules. ( 28600484 )
2017
19
Rare dental manifestation in Simpson-Golabi-Behmel syndrome. ( 26742178 )
2016
20
Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications. ( 26847959 )
2016
21
Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome. ( 27790374 )
2016
22
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome. ( 27612164 )
2016
23
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. ( 26915941 )
2016
24
Marsupialisation of kerastocystic odontogenic tumours in a patient with Simpson-Golabi-Behmel syndrome. ( 27449335 )
2016
25
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome. ( 26692054 )
2016
26
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. ( 27589329 )
2016
27
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. ( 26545172 )
2015
28
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. ( 24459012 )
2014
29
Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. ( 25073799 )
2014
30
Simpson-golabi-behmel syndrome types I and II. ( 25238977 )
2014
31
A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return. ( 25804025 )
2014
32
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. ( 25245233 )
2014
33
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. ( 24214682 )
2014
34
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. ( 23463737 )
2013
35
Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report. ( 24169032 )
2013
36
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
37
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. ( 24166811 )
2013
38
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. ( 24357529 )
2013
39
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
40
Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. ( 22893378 )
2012
41
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. ( 22795092 )
2012
42
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
43
Simpson-Golabi-Behmel syndrome associated with cleft palate. ( 21959466 )
2011
44
The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story. ( 21204223 )
2011
45
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
46
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. ( 20950395 )
2011
47
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. ( 21434539 )
2010
48
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. ( 20683991 )
2010
49
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. ( 21082656 )
2010
50
Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child. ( 19681434 )
2009

Variations for Simpson-Golabi-Behmel Syndrome

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

6 (show all 22)
# 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.194_206delGTCTCCCTAAGGG (p.Cys65Serfs) deletion Pathogenic rs869025181 GRCh38 Chromosome X, 133953181: 133953193
3 GPC3 NM_004484.3(GPC3): c.1414_1573del160 (p.Leu472Asnfs) deletion Pathogenic
4 GPC3 NM_004484.3(GPC3): c.886T> A (p.Trp296Arg) single nucleotide variant Pathogenic rs104894854 GRCh37 Chromosome X, 132887655: 132887655
5 GPC3 NM_004484.3(GPC3): c.886T> A (p.Trp296Arg) single nucleotide variant Pathogenic rs104894854 GRCh38 Chromosome X, 133753628: 133753628
6 GPC3 NM_004484.3(GPC3): c.1292+1G> T single nucleotide variant Pathogenic rs869025182 GRCh37 Chromosome X, 132826396: 132826396
7 GPC3 NM_004484.3(GPC3): c.1292+1G> T single nucleotide variant Pathogenic rs869025182 GRCh38 Chromosome X, 133692368: 133692368
8 GPC3 NM_004484.3(GPC3): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs104894855 GRCh37 Chromosome X, 132887946: 132887946
9 GPC3 NM_004484.3(GPC3): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs104894855 GRCh38 Chromosome X, 133753919: 133753919
10 GPC3 NM_004484.3(GPC3): c.(1293_1293)-76_(1413_1413)del deletion Pathogenic GRCh38 Chromosome X, 133661675: 133661926
11 GPC3 NM_004484.3(GPC3): c.(1293_1293)-76_(1413_1413)del deletion Pathogenic GRCh37 Chromosome X, 132795703: 132795954
12 GPC3 NM_004484.3(GPC3): c.337+1G> A single nucleotide variant Pathogenic rs869025183 GRCh37 Chromosome X, 133087076: 133087076
13 GPC3 NM_004484.3(GPC3): c.337+1G> A single nucleotide variant Pathogenic rs869025183 GRCh38 Chromosome X, 133953049: 133953049
14 GPC3 NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs122453121 GRCh37 Chromosome X, 132833930: 132833930
15 GPC3 NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs122453121 GRCh38 Chromosome X, 133699902: 133699902
16 GPC3 NM_004484.3(GPC3): c.1666G> A (p.Gly556Arg) single nucleotide variant Pathogenic rs267606850 GRCh37 Chromosome X, 132670229: 132670229
17 GPC3 NM_004484.3(GPC3): c.1666G> A (p.Gly556Arg) single nucleotide variant Pathogenic rs267606850 GRCh38 Chromosome X, 133536201: 133536201
18 GPC3 GRCh37/hg19 Xq26.2(chrX: 132834006-132986815) copy number loss Pathogenic GRCh37 Chromosome X, 132834006: 132986815
19 GPC3 NM_004484.3(GPC3): c.1692delT (p.Leu565Serfs) deletion Likely pathogenic rs886039908 GRCh37 Chromosome X, 132670203: 132670203
20 GPC3 NM_004484.3(GPC3): c.1692delT (p.Leu565Serfs) deletion Likely pathogenic rs886039908 GRCh38 Chromosome X, 133536175: 133536175
21 GPC3 NM_004484.3(GPC3): c.974C> A (p.Ser325Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 133753540: 133753540
22 GPC3 NM_004484.3(GPC3): c.974C> A (p.Ser325Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 132887567: 132887567

Expression for Simpson-Golabi-Behmel Syndrome

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

Pathways for Simpson-Golabi-Behmel Syndrome

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 anchored component of membrane GO:0031225 9.26 GPC3 GPC4
2 Golgi lumen GO:0005796 9.16 GPC3 GPC4
3 lysosomal lumen GO:0043202 8.96 GPC3 GPC4
4 anchored component of plasma membrane GO:0046658 8.62 GPC3 GPC4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.49 CTNNB1 GPC3
2 lung development GO:0030324 9.48 CTNNB1 GPC3
3 retinoid metabolic process GO:0001523 9.46 GPC3 GPC4
4 branching involved in ureteric bud morphogenesis GO:0001658 9.43 CTNNB1 GPC3
5 regulation of signal transduction GO:0009966 9.4 GPC3 GPC4
6 glycosaminoglycan biosynthetic process GO:0006024 9.37 GPC3 GPC4
7 regulation of canonical Wnt signaling pathway GO:0060828 9.32 CTNNB1 GPC3
8 osteoclast differentiation GO:0030316 9.26 CTNNB1 GPC3
9 embryonic hindlimb morphogenesis GO:0035116 9.16 CTNNB1 GPC3
10 glycosaminoglycan catabolic process GO:0006027 8.96 GPC3 GPC4
11 anterior/posterior axis specification GO:0009948 8.62 CTNNB1 GPC3

Sources for Simpson-Golabi-Behmel Syndrome

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