MCID: SPN448
MIFTS: 37

Spondyloepimetaphyseal Dysplasia with Joint Laxity

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity:

Name: Spondyloepimetaphyseal Dysplasia with Joint Laxity 12 20 58 29 6
Semdjl 12 20
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Beighton Type 58
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 58
Dysplasia, Spondyloepimetaphyseal, with Joint Laxity 39
Spondyloepimetaphyseal Dysplasia Joint Laxity 20
Semdjl1 58
Semd-Jl 58

Characteristics:

Orphanet epidemiological data:

58
spondyloepimetaphyseal dysplasia with joint laxity
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,infantile,late childhood,young Adult;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Joint Laxity, also known as semdjl, is related to ehlers-danlos syndrome and scoliosis. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity is B3GALT6 (Beta-1,3-Galactosyltransferase 6). Affiliated tissues include eye, bone and skin, and related phenotypes are scoliosis and kyphosis

Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Diseases in the Spondyloepimetaphyseal Dysplasia with Joint Laxity family:

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.0 COL1A2 B3GALT6
2 scoliosis 29.4 MATN1 KIF22 EXOC6B COL1A2
3 spondyloepimetaphyseal dysplasia 29.2 NIN MATN1 KIF22 EXOC6B COL1A2 B3GALT6
4 spondyloepimetaphyseal dysplasia with joint laxity, type 2 12.1
5 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 12.1
6 spondyloepimetaphyseal dysplasia with joint laxity, type 3 12.0
7 spondyloepimetaphyseal dysplasia with multiple dislocations 10.5
8 dwarfism 10.5
9 alacrima, achalasia, and mental retardation syndrome 10.4
10 larsen syndrome 10.2
11 renal hypodysplasia/aplasia 1 10.2
12 pierre robin syndrome 10.2
13 isolated growth hormone deficiency, type ia 10.2
14 spondyloepimetaphyseal dysplasia, sponastrime type 10.2
15 seckel syndrome 10.2
16 brachydactyly 10.2
17 autosomal recessive disease 10.2
18 myopathy 10.2
19 hypermobile ehlers-danlos syndrome 10.2
20 hip subluxation 10.2
21 pectus carinatum 10.2
22 skeletal dysplasias 10.2
23 isolated pierre robin sequence 10.2
24 collagen disease 9.7 COL1A2 B3GALT6
25 idiopathic scoliosis 9.6 MATN1 COL1A2
26 odontochondrodysplasia 9.2 MATN1 KIF22 COL1A2 B3GALT6

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:



Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
5 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
6 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
7 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
8 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
9 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
10 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
11 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
12 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
13 elbow dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0003042
14 blue sclerae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000592
15 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
16 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
17 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
18 abnormal bone ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0011849
19 spondyloepimetaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002651
20 short iliac bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0100866
21 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
22 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
23 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
24 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
25 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
26 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
27 ectopia lentis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001083
28 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
29 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
30 exostoses 58 31 occasional (7.5%) Occasional (29-5%) HP:0100777
31 skeletal dysplasia 58 Very frequent (99-80%)
32 joint dislocation 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased HPV18 LCR reporter activity GR00197-A-1 8.92 EXOC6B KIF22 NIN
2 Increased HPV18 LCR reporter activity GR00197-A-3 8.92 KIF22

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Genetic Tests for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Genetic tests related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia with Joint Laxity 29

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

40
Eye, Bone, Skin

Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Articles related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

(show all 23)
# Title Authors PMID Year
1
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. 6 61
23664117 2013
2
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. 61
30358852 2019
3
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. 61
29443383 2018
4
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. 61
29230159 2017
5
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. 61
28346368 2017
6
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. 61
27245527 2016
7
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. 61
24766538 2015
8
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. 61
25256152 2015
9
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
10
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. 61
25149931 2014
11
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. 61
23665482 2013
12
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. 61
22152677 2011
13
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. 61
22152678 2011
14
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. 61
19277648 2009
15
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. 61
18841068 2008
16
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). 61
12784311 2003
17
Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. 61
12567412 2003
18
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States. 61
10482874 1999
19
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. 61
8669438 1996
20
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates. 61
8897044 1996
21
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient. 61
8588592 1995
22
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). 61
8182720 1994
23
The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. 61
2036742 1991

Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity:

6 (show all 48)
# 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.655G>A (p.Val219Met) SNV Uncertain significance 568476 rs1557526653 GRCh37: 1:1168313-1168313
GRCh38: 1:1232933-1232933
9 B3GALT6 NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) SNV Uncertain significance 986387 GRCh37: 1:1168105-1168105
GRCh38: 1:1232725-1232725
10 B3GALT6 NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) Duplication Uncertain significance 427130 rs533071750 GRCh37: 1:1168239-1168240
GRCh38: 1:1232859-1232860
11 B3GALT6 NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu) SNV Uncertain significance 800197 rs892958562 GRCh37: 1:1167768-1167768
GRCh38: 1:1232388-1232388
12 B3GALT6 NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln) SNV Uncertain significance 623665 rs1199531500 GRCh37: 1:1167971-1167971
GRCh38: 1:1232591-1232591
13 B3GALT6 NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn) SNV Uncertain significance 283597 rs201547600 GRCh37: 1:1168511-1168511
GRCh38: 1:1233131-1233131
14 B3GALT6 NM_080605.4(B3GALT6):c.529C>T (p.Arg177Cys) SNV Uncertain significance 1035363 GRCh37: 1:1168187-1168187
GRCh38: 1:1232807-1232807
15 B3GALT6 NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys) SNV Uncertain significance 1035382 GRCh37: 1:1168196-1168196
GRCh38: 1:1232816-1232816
16 B3GALT6 NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) SNV Uncertain significance 568476 rs1557526653 GRCh37: 1:1168313-1168313
GRCh38: 1:1232933-1232933
17 B3GALT6 NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro) SNV Uncertain significance 498895 rs1553151166 GRCh37: 1:1167735-1167735
GRCh38: 1:1232355-1232355
18 B3GALT6 NM_080605.4(B3GALT6):c.664G>C (p.Ala222Pro) SNV Uncertain significance 1045942 GRCh37: 1:1168322-1168322
GRCh38: 1:1232942-1232942
19 B3GALT6 NM_080605.4(B3GALT6):c.341C>G (p.Ala114Gly) SNV Uncertain significance 1047491 GRCh37: 1:1167999-1167999
GRCh38: 1:1232619-1232619
20 B3GALT6 NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp) SNV Uncertain significance 838573 GRCh37: 1:1168453-1168453
GRCh38: 1:1233073-1233073
21 B3GALT6 NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup) Duplication Uncertain significance 426491 rs1553151150 GRCh37: 1:1167669-1167670
GRCh38: 1:1232289-1232290
22 overlap with 3 genes NC_000001.10:g.(?_1146915)_(1168668_?)dup Duplication Uncertain significance 656827 GRCh37: 1:1146915-1168668
GRCh38: 1:1211535-1233288
23 B3GALT6 NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) SNV Uncertain significance 450501 rs900539403 GRCh37: 1:1167693-1167693
GRCh38: 1:1232313-1232313
24 overlap with 18 genes NC_000001.11:g.(?_1013554)_(1313808_?)del Deletion Uncertain significance 832325 GRCh37: 1:948934-1249188
GRCh38:
25 B3GALT6 NM_080605.4(B3GALT6):c.526G>T (p.Ala176Ser) SNV Uncertain significance 955465 GRCh37: 1:1168184-1168184
GRCh38: 1:1232804-1232804
26 B3GALT6 NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp) SNV Uncertain significance 386485 rs1039242906 GRCh37: 1:1167689-1167689
GRCh38: 1:1232309-1232309
27 B3GALT6 NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly) SNV Uncertain significance 964346 GRCh37: 1:1167717-1167717
GRCh38: 1:1232337-1232337
28 B3GALT6 NM_080605.4(B3GALT6):c.446del (p.Phe149fs) Deletion Uncertain significance 541338 rs1553151257 GRCh37: 1:1168103-1168103
GRCh38: 1:1232723-1232723
29 B3GALT6 NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) SNV Uncertain significance 661179 rs558454078 GRCh37: 1:1167999-1167999
GRCh38: 1:1232619-1232619
30 B3GALT6 NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr) SNV Uncertain significance 423210 rs377718922 GRCh37: 1:1168262-1168262
GRCh38: 1:1232882-1232882
31 B3GALT6 NM_080605.4(B3GALT6):c.446del (p.Phe149fs) Deletion Uncertain significance 541338 rs1553151257 GRCh37: 1:1168103-1168103
GRCh38: 1:1232723-1232723
32 B3GALT6 NM_080605.4(B3GALT6):c.149C>A (p.Pro50His) SNV Uncertain significance 1004515 GRCh37: 1:1167807-1167807
GRCh38: 1:1232427-1232427
33 B3GALT6 NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys) SNV Uncertain significance 1005617 GRCh37: 1:1168267-1168267
GRCh38: 1:1232887-1232887
34 overlap with 21 genes NC_000001.10:g.(?_948954)_(1284445_?)dup Duplication Uncertain significance 1008424 GRCh37: 1:948954-1284445
GRCh38:
35 B3GALT6 NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) SNV Uncertain significance 429685 rs1131691530 GRCh37: 1:1167675-1167675
GRCh38: 1:1232295-1232295
36 B3GALT6 NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) SNV Uncertain significance 429685 rs1131691530 GRCh37: 1:1167675-1167675
GRCh38: 1:1232295-1232295
37 B3GALT6 NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) SNV Uncertain significance 568475 rs1409554936 GRCh37: 1:1167894-1167894
GRCh38: 1:1232514-1232514
38 B3GALT6 NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val) SNV Uncertain significance 1014335 GRCh37: 1:1168080-1168080
GRCh38: 1:1232700-1232700
39 B3GALT6 NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3]) Microsatellite Uncertain significance 1014686 GRCh37: 1:1167669-1167670
GRCh38: 1:1232289-1232290
40 B3GALT6 NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) SNV Uncertain significance 568475 rs1409554936 GRCh37: 1:1167894-1167894
GRCh38: 1:1232514-1232514
41 B3GALT6 NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) SNV Likely benign 193478 rs190796582 GRCh37: 1:1167796-1167796
GRCh38: 1:1232416-1232416
42 B3GALT6 NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) SNV Likely benign 373234 rs200646244 GRCh37: 1:1168173-1168173
GRCh38: 1:1232793-1232793
43 B3GALT6 NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) SNV Likely benign 283369 rs370328225 GRCh37: 1:1168411-1168411
GRCh38: 1:1233031-1233031
44 B3GALT6 NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) SNV Benign 679473 rs373668725 GRCh37: 1:1168141-1168141
GRCh38: 1:1232761-1232761
45 B3GALT6 NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) SNV Benign 390636 rs142820961 GRCh37: 1:1168115-1168115
GRCh38: 1:1232735-1232735
46 B3GALT6 NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) SNV Benign 800256 rs867336520 GRCh37: 1:1167767-1167767
GRCh38: 1:1232387-1232387
47 B3GALT6 NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) Duplication Benign 450224 rs1553151151 GRCh37: 1:1167669-1167670
GRCh38: 1:1232289-1232290
48 B3GALT6 NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) SNV Benign 582960 rs777778007 GRCh37: 1:1168046-1168046
GRCh38: 1:1232666-1232666

Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity.

Pathways for Spondyloepimetaphyseal Dysplasia with Joint Laxity

GO Terms for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Cellular components related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic spindle GO:0072686 8.62 NIN KIF22

Molecular functions related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 MATN1 COL1A2

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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