SCT
MCID: SPN060
MIFTS: 49

Spondylocarpotarsal Synostosis Syndrome (SCT)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spondylocarpotarsal Synostosis Syndrome

MalaCards integrated aliases for Spondylocarpotarsal Synostosis Syndrome:

Name: Spondylocarpotarsal Synostosis Syndrome 56 12 52 25 73 36 29 13 6 15 39 71
Vertebral Fusion with Carpal Coalition 56 12 52 25 73
Spondylocarpotarsal Syndrome 56 12 52 25 73
Sct 56 12 52 25 73
Congenital Scoliosis with Unilateral Unsegmented Bar 12 25 73
Congenital Synspondylism 12 25 73
Spondylocarpotarsal Synostosis 12 58
Scoliosis, Congenital, with Unilateral Unsegmented Bar 56
Scoliosis, Congenital with Unilateral Unsegmented Bar 52
Synspondylism, Congenital 56
Synspondylism Congenital 52
Synspondylism 58
Sct Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
spondylocarpotarsal synostosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
intrafamilial variability in severity of phenotype


HPO:

31
spondylocarpotarsal synostosis syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondylocarpotarsal Synostosis Syndrome

Genetics Home Reference : 25 Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the torso results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis). People with spondylocarpotarsal synostosis syndrome have abnormalities and fusion of the bones of the wrist (carpal bones) and ankle (tarsal bones). They may also have inward- and upward-turning feet (clubfeet). Characteristic facial features include a round face, a large forehead (frontal bossing), and nostrils that open to the front rather than downward (anteverted nares). Some people with spondylocarpotarsal synostosis syndrome have an opening in the roof of the mouth (a cleft palate), hearing loss, thin tooth enamel, flat feet, or an unusually large range of joint movement (hypermobility). Individuals with this disorder can survive into adulthood. Intelligence is generally unaffected, although mild developmental delay has been reported in some affected individuals.

MalaCards based summary : Spondylocarpotarsal Synostosis Syndrome, also known as vertebral fusion with carpal coalition, is related to synostosis and atelosteogenesis. An important gene associated with Spondylocarpotarsal Synostosis Syndrome is FLNB (Filamin B), and among its related pathways/superpathways are Striated Muscle Contraction and Intraflagellar transport. Affiliated tissues include bone, t cells and eye, and related phenotypes are abnormality of retinal pigmentation and hypertelorism

Disease Ontology : 12 A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.

NIH Rare Diseases : 52 Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature , abnormalities of the vertebrae in the spine, scoliosis and lordosis , carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot , and facial abnormalities such as round face, large forehead , and up-turned nostrils. Other features can include cleft palate , deafness, loose joints, and poor formation of tooth enamel. SCT syndrome has been associated with retinal anomalies and cataracts . However, these eye problems are usually not severe enough to impair vision. This condition is caused by mutations in the FLNB gene . It is inherited in an autosomal recessive manner in families, which means that parents are usually unaffected and children have to have inherited a gene mutation from each parent.

OMIM : 56 Spondylocarpotarsal synostosis syndrome (SCT) is characterized by disproportionate short stature and spinal deformity. Clinical features include clubfeet, facial dysmorphism, dental enamel hypoplasia, cleft palate, joint laxity, and conductive hearing loss. Characteristic radiologic findings include block vertebrae and carpal and tarsal fusion. Delay in ossification of the epiphyses of carpal bones and epiphyseal dysplasia of the femur have been observed (Salian et al., 2018). Spondylocarpotarsal fusions in association with contractures and pterygia (see CPSKF1A, 178110 and CPSKF1B, 618649) can be caused by mutation in the MYH3 gene (160720). (272460)

KEGG : 36 Spondylocarpotarsal synostosis syndrome is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal synostosis syndrome is due to FLNB mutations.

UniProtKB/Swiss-Prot : 73 Spondylocarpotarsal synostosis syndrome: Disorder characterized by short stature and vertebral, carpal and tarsal fusions.

Related Diseases for Spondylocarpotarsal Synostosis Syndrome

Diseases related to Spondylocarpotarsal Synostosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 408)
# Related Disease Score Top Affiliating Genes
1 synostosis 31.7 RFLNA MYH3 FLNB
2 atelosteogenesis 30.7 SLC35D1 FLNB
3 larsen syndrome 30.3 SLC35D1 FLNB CRTAP
4 distal arthrogryposis 29.8 TNNT3 TNNI2 PES1 MYH3
5 boomerang dysplasia 28.2 TRIP11 SLC35D1 P3H1 IFT80 FLNB CRTAP
6 pancreatic cancer 11.7
7 liver cirrhosis 11.6
8 sacrococcygeal teratoma 11.6
9 chediak-higashi syndrome 11.6
10 autism 11.5
11 inflammatory bowel disease 11.5
12 diarrhea 11.5
13 celiac disease 1 11.3
14 multiple endocrine neoplasia, type i 11.2
15 schizophrenia 11.2
16 zollinger-ellison syndrome 11.2
17 pervasive developmental disorder 11.2
18 exocrine pancreatic insufficiency 11.2
19 hyperparathyroidism 11.2
20 duodenal ulcer 11.2
21 acute pancreatitis 11.2
22 insulinoma 11.2
23 gastritis 11.2
24 pancreatitis 11.2
25 gastrinoma 11.2
26 diabetes mellitus 11.2
27 diabetes mellitus, noninsulin-dependent 11.1
28 polycystic kidney disease 1 with or without polycystic liver disease 11.1
29 diabetes mellitus, insulin-dependent 11.1
30 cholangiocarcinoma 11.1
31 autism spectrum disorder 11.1
32 urethral syndrome 11.1
33 dumping syndrome 11.1
34 neuroendocrine tumor 11.1
35 angiodysplasia 11.1
36 cystic kidney disease 11.1
37 duodenogastric reflux 11.1
38 pancreatic adenocarcinoma 11.1
39 biliary dyskinesia 11.1
40 alcoholic pancreatitis 11.1
41 nutritional deficiency disease 11.1
42 vipoma 11.1
43 peptic ulcer disease 11.1
44 autosomal dominant polycystic kidney disease 11.1
45 glucagonoma 11.1
46 recurrent acute pancreatitis 11.1
47 duodenal atresia 11.0
48 pancreatic agenesis 1 11.0
49 diarrhea 4, malabsorptive, congenital 11.0
50 bile acid malabsorption, primary 11.0

Graphical network of the top 20 diseases related to Spondylocarpotarsal Synostosis Syndrome:



Diseases related to Spondylocarpotarsal Synostosis Syndrome

Symptoms & Phenotypes for Spondylocarpotarsal Synostosis Syndrome

Human phenotypes related to Spondylocarpotarsal Synostosis Syndrome:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 abnormality of retinal pigmentation 31 very rare (1%) HP:0007703
2 hypertelorism 31 HP:0000316
3 short neck 31 HP:0000470
4 frontal bossing 31 HP:0002007
5 scoliosis 31 HP:0002650
6 hyperlordosis 31 HP:0003307
7 cataract 31 HP:0000518
8 delayed skeletal maturation 31 HP:0002750
9 inguinal hernia 31 HP:0000023
10 pectus carinatum 31 HP:0000768
11 pes planus 31 HP:0001763
12 short nose 31 HP:0003196
13 brachydactyly 31 HP:0001156
14 renal cyst 31 HP:0000107
15 short metacarpal 31 HP:0010049
16 sensorineural hearing impairment 31 HP:0000407
17 cleft palate 31 HP:0000175
18 broad nasal tip 31 HP:0000455
19 epiphyseal dysplasia 31 HP:0002656
20 disproportionate short-trunk short stature 31 HP:0003521
21 restrictive ventilatory defect 31 HP:0002091
22 scapular winging 31 HP:0003691
23 talipes equinovarus 31 HP:0001762
24 clinodactyly of the 5th finger 31 HP:0004209
25 preauricular skin tag 31 HP:0000384
26 platybasia 31 HP:0002691
27 abnormality of pelvic girdle bone morphology 31 HP:0002644
28 coxa vara 31 HP:0002812
29 block vertebrae 31 HP:0003305
30 tarsal synostosis 31 HP:0008368
31 capitate-hamate fusion 31 HP:0001241
32 hypoplasia of the odontoid process 31 HP:0003311
33 limited elbow extension 31 HP:0001377
34 mixed hearing impairment 31 HP:0000410
35 hypoplasia of dental enamel 31 HP:0006297
36 carpal synostosis 31 HP:0009702
37 broad face 31 HP:0000283
38 failure of eruption of permanent teeth 31 HP:0006352
39 small foramen magnum 31 HP:0002677
40 bowed humerus 31 HP:0003865
41 c2-c3 subluxation 31 HP:0008456

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Head And Neck Nose:
anteverted nares

Skeletal Pelvis:
coxa vara

Skeletal Hands:
carpal synostosis
capitate-hamate coalition
lunate-triquetrum fusion
short metacarpals (iv or v)

Skeletal:
delayed bone age

Head And Neck Ears:
hearing loss, conductive (in some patients)

Abdomen External Features:
protruding abdomen (secondary to lordosis)

Skeletal Feet:
tarsal fusion (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
winged scapulae
crowded ribs

Skeletal Skull:
platybasia
foramen magnum stenosis

Skeletal Limbs:
limited elbow extension
epiphyseal dysplasia (femur, tibia, fibula)

Head And Neck Teeth:
failure of eruption of permanent teeth
enamel hypoplasia

Growth Height:
short stature, disproportionate
short trunk

Head And Neck Face:
frontal bossing, mild

Skeletal Spine:
fusion of vertebral arches
fusion of posterior processes
scoliosis (thoracic and lumbar)
lordosis (thoracic and lumbar)

Clinical features from OMIM:

272460

MGI Mouse Phenotypes related to Spondylocarpotarsal Synostosis Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.85 ADCK2 CRTAP FLNB IFT80 P3H1 PES1
2 limbs/digits/tail MP:0005371 9.56 FLNB IFT80 P3H1 SLC35D1 TNNI2 TNNT3
3 skeleton MP:0005390 9.28 CRTAP FLNB IFT80 P3H1 SLC35D1 TNNI2

Drugs & Therapeutics for Spondylocarpotarsal Synostosis Syndrome

Search Clinical Trials , NIH Clinical Center for Spondylocarpotarsal Synostosis Syndrome

Genetic Tests for Spondylocarpotarsal Synostosis Syndrome

Genetic tests related to Spondylocarpotarsal Synostosis Syndrome:

# Genetic test Affiliating Genes
1 Spondylocarpotarsal Synostosis Syndrome 29 FLNB

Anatomical Context for Spondylocarpotarsal Synostosis Syndrome

MalaCards organs/tissues related to Spondylocarpotarsal Synostosis Syndrome:

40
Bone, T Cells, Eye, Kidney, B Cells, Liver, Lung

Publications for Spondylocarpotarsal Synostosis Syndrome

Articles related to Spondylocarpotarsal Synostosis Syndrome:

(show all 34)
# Title Authors PMID Year
1
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB. 61 56 6
29566257 2018
2
Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father. 61 56 6
18257094 2008
3
Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. 56 6
18386804 2008
4
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. 56 6
14991055 2004
5
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14. 61 56
15060099 2004
6
Spondylocarpotarsal synostosis with epiphyseal dysplasia. 61 56
11992487 2002
7
Spondylocarpotarsal synostosis syndrome and cervical instability. 61 56
10766994 2000
8
Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies. 61 56
9557886 1998
9
Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar). 61 56
8030662 1994
10
FLNB-Related Disorders 6
20301736 2008
11
Spondylocarpotarsal synostosis with ocular findings. 56
10748412 2000
12
Congenital synspondylism. 56
1536163 1992
13
New syndrome: progressive scoliosis by unilateral unsegmented fusion bar, foot deformity, joint laxity, congenital inguinal herniae, peculiar face. 56
3789006 1986
14
Familial congenital scoliosis with unilateral unsegemented bar. Case report of two siblings. 56
641096 1978
15
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. 61
31491409 2019
16
Spondylocarpotarsal synostosis syndrome: "Bat wings" spinal fusions and "ladybug" carpal coalitions. 61
30245165 2019
17
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome. 61
30796325 2019
18
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. 61
30228365 2018
19
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. 61
29805041 2018
20
Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis. 61
29263747 2017
21
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. 61
28145000 2017
22
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. 61
27381093 2016
23
Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence. 61
24179936 2013
24
Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome? 61
20717009 2010
25
Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome? 61
20186786 2010
26
Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. 61
19505475 2009
27
Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. 61
18470895 2008
28
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. 61
17635842 2008
29
Unusual facies, thumb hypoplasia, distinctive spinal fusions and extraspinal mobility limitation, in a pair of monozygotic twins. 61
17551327 2007
30
Filamin B represses chondrocyte hypertrophy in a Runx2/Smad3-dependent manner. 61
17606870 2007
31
Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome. 61
17042937 2006
32
Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation. 61
16761119 2006
33
Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar). 61
15891931 2005
34
[Spondylocarpotarsal synostosis syndrome]. 61
11528961 2001

Variations for Spondylocarpotarsal Synostosis Syndrome

ClinVar genetic disease variations for Spondylocarpotarsal Synostosis Syndrome:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNB NM_001457.4(FLNB):c.6408del (p.Ser2137fs)deletion Pathogenic 6395 rs80356521 3:58139139-58139139 3:58153412-58153412
2 FLNB NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter)SNV Pathogenic 6396 rs80356519 3:58095865-58095865 3:58110138-58110138
3 FLNB NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter)SNV Pathogenic 6397 rs80356520 3:58121853-58121853 3:58136126-58136126
4 FLNB NM_001457.4(FLNB):c.6010C>T (p.Arg2004Ter)SNV Pathogenic 6407 rs121908897 3:58134498-58134498 3:58148771-58148771
5 FLNB NM_001457.4(FLNB):c.5548G>T (p.Gly1850Ter)SNV Pathogenic 6408 rs121908898 3:58131770-58131770 3:58146043-58146043
6 FLNB NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter)SNV Pathogenic 21280 rs80356517 3:58094188-58094188 3:58108461-58108461
7 FLNB NM_001457.4(FLNB):c.7029T>G (p.Tyr2343Ter)SNV Pathogenic 21297 rs80356518 3:58148888-58148888 3:58163161-58163161
8 MYH3 NM_002470.4(MYH3):c.4647+1G>ASNV Pathogenic 587701 rs1567552713 17:10536907-10536907 17:10633590-10633590
9 MYH3 NM_002470.4(MYH3):c.1581+1G>ASNV Pathogenic 587702 rs1350968647 17:10546142-10546142 17:10642825-10642825
10 MYH3 NM_002470.4(MYH3):c.1411-391_1411-219deldeletion Pathogenic 587704 rs1567558314 17:10546532-10546704 17:10643215-10643387
11 MYH3 NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter)SNV Pathogenic 587703 rs1567564042 17:10558241-10558241 17:10654924-10654924
12 MYH3 NM_002470.4(MYH3):c.-9+1G>ASNV Pathogenic 587706 rs557849165 17:10559406-10559406 17:10656089-10656089
13 FLNB NM_001457.4(FLNB):c.1592dup (p.His532fs)duplication Pathogenic 633651 rs746105983 3:58089787-58089788 3:58104060-58104061
14 FLNB NM_001457.4(FLNB):c.5555-5_5561deldeletion Pathogenic 807602 3:58132540-58132551 3:58146813-58146824
15 MYH3 NM_002470.4(MYH3):c.2699del (p.Leu900fs)deletion Likely pathogenic 617793 rs1567556169 17:10543103-10543103 17:10639786-10639786
16 MYH3 NM_002470.4(MYH3):c.1934T>G (p.Phe645Cys)SNV Likely pathogenic 617792 rs1567557697 17:10545582-10545582 17:10642265-10642265
17 MYH3 NM_002470.4(MYH3):c.724_726TCC[1] (p.Ser243del)short repeat Likely pathogenic 203472 rs1555527166 17:10551880-10551882 17:10648563-10648565
18 FLNB NM_001457.4(FLNB):c.3446_3455del (p.Gly1149fs)deletion Likely pathogenic 559903 rs1553701033 3:58109136-58109145 3:58123409-58123418
19 FLNB NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs)deletion Likely pathogenic 559904 rs1553703909 3:58121800-58121803 3:58136073-58136076
20 MYH3 NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs)deletion Conflicting interpretations of pathogenicity 503890 rs771300756 17:10544659-10544663 17:10641342-10641346
21 FLNB NM_001457.4(FLNB):c.808A>G (p.Met270Val)SNV Uncertain significance 252548 rs145036794 3:58080583-58080583 3:58094856-58094856
22 FLNB NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala)SNV Uncertain significance 289425 rs886044175 3:58118535-58118535 3:58132808-58132808
23 MYH3 NM_002470.3(MYH3):c.725C>T (p.Ser242Phe)SNV no interpretation for the single variant 590257 rs1567560718 17:10551884-10551884 17:10648567-10648567
24 MYH3 NM_002470.4(MYH3):c.721A>G (p.Asn241Asp)SNV no interpretation for the single variant 590258 rs1567560725 17:10551888-10551888 17:10648571-10648571

Expression for Spondylocarpotarsal Synostosis Syndrome

Search GEO for disease gene expression data for Spondylocarpotarsal Synostosis Syndrome.

Pathways for Spondylocarpotarsal Synostosis Syndrome

Pathways related to Spondylocarpotarsal Synostosis Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.99 TNNT3 TNNI2 MYH3
2 10.41 WDR35 TRIP11 IFT80

GO Terms for Spondylocarpotarsal Synostosis Syndrome

Cellular components related to Spondylocarpotarsal Synostosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary tip GO:0097542 8.96 WDR35 IFT80
2 troponin complex GO:0005861 8.62 TNNT3 TNNI2

Biological processes related to Spondylocarpotarsal Synostosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.43 TNNT3 TNNI2
2 intraciliary transport involved in cilium assembly GO:0035735 9.43 WDR35 TRIP11 IFT80
3 sarcomere organization GO:0045214 9.4 TNNT3 MYH3
4 chaperone-mediated protein folding GO:0061077 9.37 P3H1 CRTAP
5 muscle filament sliding GO:0030049 9.33 TNNT3 TNNI2 MYH3
6 regulation of muscle contraction GO:0006937 9.32 TNNT3 TNNI2
7 negative regulation of post-translational protein modification GO:1901874 8.96 P3H1 CRTAP
8 skeletal muscle contraction GO:0003009 8.8 TNNT3 TNNI2 MYH3

Molecular functions related to Spondylocarpotarsal Synostosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 8.92 TNNT3 TNNI2 MYH3 FLNB

Sources for Spondylocarpotarsal Synostosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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