SEMDJL1
MCID: SPN253
MIFTS: 34

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures (SEMDJL1)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

Name: Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 57 12 29 6
Semdjl1 57 12 72
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 1, with or Without Fractures 72
Spondyloepimetaphyseal Dysplasia with Joint Laxity Beighton Type 72
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 12
Semdjl-Beighton Type 72
Semdjl 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
common in afrikaan population, south africa
death in first-second decade of life secondary to cardio-respiratory compromise


HPO:

31
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

OMIM® : 57 Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013). (271640) (Updated 20-May-2021)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures, also known as semdjl1, is related to spondyloepimetaphyseal dysplasia with joint laxity and spondyloepimetaphyseal dysplasia with joint laxity, type 2. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures is B3GALT6 (Beta-1,3-Galactosyltransferase 6). Affiliated tissues include spinal cord, bone and skin, and related phenotypes are carpal synostosis and high palate

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has material basis in homozygous or compound heterozygous mutation in B3GALT6 on chromosome 1p36.33.

UniProtKB/Swiss-Prot : 72 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures: A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed.

Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:



Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

31 (show top 50) (show all 67)
# Description HPO Frequency HPO Source Accession
1 carpal synostosis 31 occasional (7.5%) HP:0009702
2 high palate 31 very rare (1%) HP:0000218
3 pes planus 31 very rare (1%) HP:0001763
4 prominent forehead 31 very rare (1%) HP:0011220
5 genu valgum 31 very rare (1%) HP:0002857
6 cleft palate 31 very rare (1%) HP:0000175
7 large iliac wings 31 very rare (1%) HP:0008818
8 flat face 31 very rare (1%) HP:0012368
9 atrial septal defect 31 very rare (1%) HP:0001631
10 platyspondyly 31 very rare (1%) HP:0000926
11 proptosis 31 very rare (1%) HP:0000520
12 blue sclerae 31 very rare (1%) HP:0000592
13 severe short stature 31 very rare (1%) HP:0003510
14 short neck 31 HP:0000470
15 flexion contracture 31 HP:0001371
16 epiphyseal dysplasia 31 HP:0002656
17 ovoid vertebral bodies 31 HP:0003300
18 metatarsus adductus 31 HP:0001840
19 osteoporosis 31 HP:0000939
20 micrognathia 31 HP:0000347
21 myopia 31 HP:0000545
22 bicuspid aortic valve 31 HP:0001647
23 slender long bone 31 HP:0003100
24 joint laxity 31 HP:0001388
25 talipes equinovarus 31 HP:0001762
26 kyphoscoliosis 31 HP:0002751
27 mitral regurgitation 31 HP:0001653
28 ectopia lentis 31 HP:0001083
29 long philtrum 31 HP:0000343
30 sparse scalp hair 31 HP:0002209
31 hip dislocation 31 HP:0002827
32 malar flattening 31 HP:0000272
33 ventricular septal defect 31 HP:0001629
34 hallux valgus 31 HP:0001822
35 coxa valga 31 HP:0002673
36 decreased body weight 31 HP:0004325
37 hyperextensible skin 31 HP:0000974
38 midface retrusion 31 HP:0011800
39 short metacarpal 31 HP:0010049
40 dislocated radial head 31 HP:0003083
41 generalized hypotonia 31 HP:0001290
42 11 pairs of ribs 31 HP:0000878
43 short long bone 31 HP:0003026
44 radial bowing 31 HP:0002986
45 flared iliac wings 31 HP:0002869
46 short nail 31 HP:0001799
47 irregular vertebral endplates 31 HP:0003301
48 spinal cord compression 31 HP:0002176
49 short femoral neck 31 HP:0100864
50 radial head subluxation 31 HP:0003048

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
progressive kyphoscoliosis
platyspondyly (childhood)
ovoid vertebrae (infancy)
irregular endplates (childhood)
more
Skeletal Feet:
pes planus
metatarsus adductus
talipes equinovarus
hallux valgus

Skeletal:
osteoporosis
joint laxity
joint dislocation
spondyloepimetaphyseal dysplasia
joint contractures
more
Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
ventricular septal defect
mitral insufficiency

Skin Nails Hair Hair:
sparse scalp hair

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs
cupped ribs
anterior flaring of ribs

Neurologic Central Nervous System:
spinal cord compression
paraplegia
hypotonia

Skeletal Hands:
short metacarpals
advanced carpal ossification
hypermobile digits
spatulate terminal phalanges (especially thumbs)
hand contracture (rare)
more
Growth Weight:
low weight

Skin Nails Hair Nails:
foreshortened nails

Head And Neck Neck:
short neck

Head And Neck Face:
prominent forehead
micrognathia
oval face
flat midface

Head And Neck Eyes:
myopia
proptosis
prominent eyes
lens dislocation
blue sclera
more
Head And Neck Mouth:
long philtrum
long upper lip
cleft palate (31% of patients)
high-arched palate (12% of patients)

Skeletal Pelvis:
hip dislocation
coxa valga
hip subluxation
hypoplastic iliac body
short femoral necks
more
Skeletal Limbs:
radial bowing
radial head subluxation
metaphyseal flaring
radial head dislocation
wide metaphyses
more
Skin Nails Hair Skin:
soft, doughy skin
skin fragility
atrophic scarring
mild skin hyperextensibility
palmar wrinkling

Growth Height:
dwarfism

Chest External Features:
thoracic asymmetry

Clinical features from OMIM®:

271640 (Updated 20-May-2021)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures

Genetic Tests for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Genetic tests related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 29 B3GALT6

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

40
Spinal Cord, Bone, Skin

Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Articles related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

(show all 17)
# Title Authors PMID Year
1
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. 57 6
23664117 2013
2
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. 57
23664118 2013
3
Nosology and classification of genetic skeletal disorders: 2006 revision. 57
17120245 2007
4
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). 57
12784311 2003
5
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States. 57
10482874 1999
6
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. 57
9678701 1998
7
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. 57
8669438 1996
8
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient. 57
8588592 1995
9
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). 57
8182720 1994
10
The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. 57
2036742 1991
11
A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance? 57
3681904 1987
12
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. 57
6499247 1984
13
Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. 57
6435203 1984
14
Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder. 57
6635864 1983
15
Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. 57
7209574 1980
16
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. 61
29230159 2017
17
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations. 61
28649518 2015

Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

6 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B3GALT6 NM_080605.4(B3GALT6):c.1A>G (p.Met1Val) SNV Pathogenic 60484 rs786200938 GRCh37: 1:1167659-1167659
GRCh38: 1:1232279-1232279
2 B3GALT6 NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys) SNV Pathogenic 60485 rs397514717 GRCh37: 1:1168352-1168352
GRCh38: 1:1232972-1232972
3 B3GALT6 NM_080605.4(B3GALT6):c.466G>A (p.Asp156Asn) SNV Pathogenic 60486 rs397514718 GRCh37: 1:1168124-1168124
GRCh38: 1:1232744-1232744
4 B3GALT6 NM_080605.4(B3GALT6):c.193A>G (p.Ser65Gly) SNV Pathogenic 60488 rs397514719 GRCh37: 1:1167851-1167851
GRCh38: 1:1232471-1232471
5 B3GALT6 NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu) SNV Pathogenic 60489 rs397514720 GRCh37: 1:1167858-1167858
GRCh38: 1:1232478-1232478
6 B3GALT6 NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu) SNV Pathogenic 522415 rs1553151294 GRCh37: 1:1168214-1168214
GRCh38: 1:1232834-1232834
7 B3GALT6 NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser) SNV Pathogenic 60487 rs786200939 GRCh37: 1:1168557-1168557
GRCh38: 1:1233177-1233177
8 B3GALT6 NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys) SNV Uncertain significance 1035382 GRCh37: 1:1168196-1168196
GRCh38: 1:1232816-1232816
9 B3GALT6 NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) SNV Uncertain significance 568476 rs1557526653 GRCh37: 1:1168313-1168313
GRCh38: 1:1232933-1232933
10 B3GALT6 NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro) SNV Uncertain significance 498895 rs1553151166 GRCh37: 1:1167735-1167735
GRCh38: 1:1232355-1232355
11 B3GALT6 NM_080605.4(B3GALT6):c.664G>C (p.Ala222Pro) SNV Uncertain significance 1045942 GRCh37: 1:1168322-1168322
GRCh38: 1:1232942-1232942
12 B3GALT6 NM_080605.4(B3GALT6):c.341C>G (p.Ala114Gly) SNV Uncertain significance 1047491 GRCh37: 1:1167999-1167999
GRCh38: 1:1232619-1232619
13 B3GALT6 NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) SNV Uncertain significance 450501 rs900539403 GRCh37: 1:1167693-1167693
GRCh38: 1:1232313-1232313
14 B3GALT6 NM_080605.4(B3GALT6):c.549G>A (p.Trp183Ter) SNV Uncertain significance 1051995 GRCh37: 1:1168207-1168207
GRCh38: 1:1232827-1232827
15 B3GALT6 NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) SNV Uncertain significance 450501 rs900539403 GRCh37: 1:1167693-1167693
GRCh38: 1:1232313-1232313
16 B3GALT6 NM_080605.4(B3GALT6):c.409C>G (p.Leu137Val) SNV Uncertain significance 1058949 GRCh37: 1:1168067-1168067
GRCh38: 1:1232687-1232687
17 B3GALT6 NM_080605.4(B3GALT6):c.651del (p.Tyr218fs) Deletion Uncertain significance 1061638 GRCh37: 1:1168309-1168309
GRCh38: 1:1232929-1232929
18 B3GALT6 NM_080605.4(B3GALT6):c.631C>T (p.Pro211Ser) SNV Uncertain significance 1063834 GRCh37: 1:1168289-1168289
GRCh38: 1:1232909-1232909
19 B3GALT6 NM_080605.4(B3GALT6):c.446del (p.Phe149fs) Deletion Uncertain significance 541338 rs1553151257 GRCh37: 1:1168103-1168103
GRCh38: 1:1232723-1232723
20 B3GALT6 NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) SNV Uncertain significance 568475 rs1409554936 GRCh37: 1:1167894-1167894
GRCh38: 1:1232514-1232514
21 B3GALT6 NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) SNV Uncertain significance 568476 rs1557526653 GRCh37: 1:1168313-1168313
GRCh38: 1:1232933-1232933
22 B3GALT6 NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) SNV Uncertain significance 429685 rs1131691530 GRCh37: 1:1167675-1167675
GRCh38: 1:1232295-1232295
23 overlap with 3 genes NC_000001.10:g.(?_1146915)_(1168668_?)dup Duplication Uncertain significance 656827 GRCh37: 1:1146915-1168668
GRCh38: 1:1211535-1233288
24 B3GALT6 NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) SNV Uncertain significance 661179 rs558454078 GRCh37: 1:1167999-1167999
GRCh38: 1:1232619-1232619
25 overlap with 18 genes NC_000001.11:g.(?_1013554)_(1313808_?)del Deletion Uncertain significance 832325 GRCh37: 1:948934-1249188
GRCh38:
26 B3GALT6 NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) SNV Uncertain significance 429685 rs1131691530 GRCh37: 1:1167675-1167675
GRCh38: 1:1232295-1232295
27 B3GALT6 NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp) SNV Uncertain significance 838573 GRCh37: 1:1168453-1168453
GRCh38: 1:1233073-1233073
28 B3GALT6 NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp) SNV Uncertain significance 386485 rs1039242906 GRCh37: 1:1167689-1167689
GRCh38: 1:1232309-1232309
29 B3GALT6 NM_080605.4(B3GALT6):c.526G>T (p.Ala176Ser) SNV Uncertain significance 955465 GRCh37: 1:1168184-1168184
GRCh38: 1:1232804-1232804
30 B3GALT6 NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly) SNV Uncertain significance 964346 GRCh37: 1:1167717-1167717
GRCh38: 1:1232337-1232337
31 B3GALT6 NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup) Duplication Uncertain significance 426491 rs1553151150 GRCh37: 1:1167669-1167670
GRCh38: 1:1232289-1232290
32 B3GALT6 NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) SNV Uncertain significance 986387 GRCh37: 1:1168105-1168105
GRCh38: 1:1232725-1232725
33 B3GALT6 NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) Duplication Uncertain significance 427130 rs533071750 GRCh37: 1:1168239-1168240
GRCh38: 1:1232859-1232860
34 B3GALT6 NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr) SNV Uncertain significance 423210 rs377718922 GRCh37: 1:1168262-1168262
GRCh38: 1:1232882-1232882
35 B3GALT6 NM_080605.4(B3GALT6):c.446del (p.Phe149fs) Deletion Uncertain significance 541338 rs1553151257 GRCh37: 1:1168103-1168103
GRCh38: 1:1232723-1232723
36 B3GALT6 NM_080605.4(B3GALT6):c.149C>A (p.Pro50His) SNV Uncertain significance 1004515 GRCh37: 1:1167807-1167807
GRCh38: 1:1232427-1232427
37 B3GALT6 NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys) SNV Uncertain significance 1005617 GRCh37: 1:1168267-1168267
GRCh38: 1:1232887-1232887
38 overlap with 21 genes NC_000001.10:g.(?_948954)_(1284445_?)dup Duplication Uncertain significance 1008424 GRCh37: 1:948954-1284445
GRCh38:
39 B3GALT6 NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val) SNV Uncertain significance 1014335 GRCh37: 1:1168080-1168080
GRCh38: 1:1232700-1232700
40 B3GALT6 NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3]) Microsatellite Uncertain significance 1014686 GRCh37: 1:1167669-1167670
GRCh38: 1:1232289-1232290
41 B3GALT6 NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) SNV Uncertain significance 568475 rs1409554936 GRCh37: 1:1167894-1167894
GRCh38: 1:1232514-1232514
42 B3GALT6 NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu) SNV Uncertain significance 800197 rs892958562 GRCh37: 1:1167768-1167768
GRCh38: 1:1232388-1232388
43 B3GALT6 NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln) SNV Uncertain significance 623665 rs1199531500 GRCh37: 1:1167971-1167971
GRCh38: 1:1232591-1232591
44 B3GALT6 NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn) SNV Uncertain significance 283597 rs201547600 GRCh37: 1:1168511-1168511
GRCh38: 1:1233131-1233131
45 B3GALT6 NM_080605.4(B3GALT6):c.529C>T (p.Arg177Cys) SNV Uncertain significance 1035363 GRCh37: 1:1168187-1168187
GRCh38: 1:1232807-1232807
46 B3GALT6 NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) SNV Likely benign 283369 rs370328225 GRCh37: 1:1168411-1168411
GRCh38: 1:1233031-1233031
47 B3GALT6 NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) SNV Likely benign 193478 rs190796582 GRCh37: 1:1167796-1167796
GRCh38: 1:1232416-1232416
48 B3GALT6 NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) SNV Likely benign 373234 rs200646244 GRCh37: 1:1168173-1168173
GRCh38: 1:1232793-1232793
49 B3GALT6 NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) SNV Benign 800256 rs867336520 GRCh37: 1:1167767-1167767
GRCh38: 1:1232387-1232387
50 B3GALT6 NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) SNV Benign 679473 rs373668725 GRCh37: 1:1168141-1168141
GRCh38: 1:1232761-1232761

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

72
# Symbol AA change Variation ID SNP ID
1 B3GALT6 p.Ser65Gly VAR_070133 rs397514719
2 B3GALT6 p.Pro67Leu VAR_070134 rs397514720
3 B3GALT6 p.Asp156Asn VAR_070136 rs397514718
4 B3GALT6 p.Asp207His VAR_070137 rs397514723
5 B3GALT6 p.Gly217Ser VAR_070138 rs397514724
6 B3GALT6 p.Arg232Cys VAR_070139 rs397514717
7 B3GALT6 p.Cys300Ser VAR_070140 rs786200939
8 B3GALT6 p.Thr79Ala VAR_084154
9 B3GALT6 p.Phe186Leu VAR_084157
10 B3GALT6 p.Arg256Trp VAR_084159

Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures.

Pathways for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

GO Terms for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

3 CDC
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32 ICD10
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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