SEMD-SL
MCID: SPN289
MIFTS: 34

Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (SEMD-SL)

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

Aliases & Classifications for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

MalaCards integrated aliases for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

Name: Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 57 12 13 44 70
Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome 12 20 58 29 6
Smed-Sl 57 12 20 72
Spondylometaepiphyseal Dysplasia Short Limb-Hand Type 12 20 72
Smed Short Limb-Abnormal Calcification Type 12 20 72
Smed Short Limb-Hand Type 12 20 72
Smed-Sl/ac 57 12 72
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type 20 72
Smed, Type Ii 57 12
Smed Type 2 12 20
Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type 57
Spondyloepimetaphyseal Dysplasia - Short Limb - Abnormal Calcification 20
Dysplasia, Spondylometaepiphyseal, Short Limb-Hand Type 39
Spondyloepimetaphyseal Dysplasia, Short Limb-Hand Type 72
Smed, Short Limb-Abnormal Calcification Type 57
Smed, Short Limb-Hand Type 57
Smed Type Ii 72
Semd-Sl 72

Characteristics:

Orphanet epidemiological data:

58
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile,late childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
spondylometaepiphyseal dysplasia, short limb-hand type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93358 Definition Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.

MalaCards based summary : Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type, also known as spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, is related to achondroplasia and hypertelorism. An important gene associated with Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type is DDR2 (Discoidin Domain Receptor Tyrosine Kinase 2). Affiliated tissues include trachea, spinal cord and bone, and related phenotypes are frontal bossing and scoliosis

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has material basis in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3.

UniProtKB/Swiss-Prot : 72 Spondyloepimetaphyseal dysplasia, short limb-hand type: A bone disease characterized by short-limbed dwarfism, a narrow chest with pectus excavatum, brachydactyly in the hands and feet, a characteristic craniofacial appearance and premature calcifications. The radiological findings are distinctive and comprise short long bones throughout the skeleton with striking epiphyses that are stippled, flattened and fragmented and flared, irregular metaphyses. Platyspondyly in the spine with wide intervertebral spaces is observed and some vertebral bodies are pear-shaped with central humps, anterior protrusions and posterior scalloping.

More information from OMIM: 271665

Related Diseases for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Diseases related to Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 achondroplasia 10.4
2 hypertelorism 10.3
3 3-methylglutaconic aciduria, type iii 10.1

Symptoms & Phenotypes for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Human phenotypes related to Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

31 (show all 49)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 HP:0002007
2 scoliosis 31 HP:0002650
3 high palate 31 HP:0000218
4 global developmental delay 31 HP:0001263
5 depressed nasal bridge 31 HP:0005280
6 hypertelorism 31 HP:0000316
7 short nose 31 HP:0003196
8 metatarsus adductus 31 HP:0001840
9 epiphyseal stippling 31 HP:0010655
10 micrognathia 31 HP:0000347
11 pectus excavatum 31 HP:0000767
12 elbow flexion contracture 31 HP:0002987
13 platyspondyly 31 HP:0000926
14 proptosis 31 HP:0000520
15 malar flattening 31 HP:0000272
16 abnormality of the neck 31 HP:0000464
17 recurrent pneumonia 31 HP:0006532
18 micromelia 31 HP:0002983
19 midface retrusion 31 HP:0011800
20 short metacarpal 31 HP:0010049
21 disproportionate short-limb short stature 31 HP:0008873
22 hypoplasia of the odontoid process 31 HP:0003311
23 knee flexion contracture 31 HP:0006380
24 syringomyelia 31 HP:0003396
25 thoracic hypoplasia 31 HP:0005257
26 generalized hypotonia 31 HP:0001290
27 short phalanx of finger 31 HP:0009803
28 restrictive ventilatory defect 31 HP:0002091
29 short long bone 31 HP:0003026
30 long fibula 31 HP:0003085
31 flared iliac wings 31 HP:0002869
32 bell-shaped thorax 31 HP:0001591
33 short ribs 31 HP:0000773
34 anterior rib cupping 31 HP:0000907
35 spinal cord compression 31 HP:0002176
36 hip subluxation 31 HP:0030043
37 flared metaphysis 31 HP:0003015
38 calcification of falx cerebri 31 HP:0005462
39 broad metacarpals 31 HP:0001230
40 spondyloepimetaphyseal dysplasia 31 HP:0002651
41 abnormal calcification of the carpal bones 31 HP:0009164
42 bowing of the legs 31 HP:0002979
43 broad phalanx 31 HP:0006009
44 triangular shaped distal phalanges of the hand 31 HP:0009875
45 atlantoaxial instability 31 HP:0003467
46 tracheal calcification 31 HP:0002787
47 c1-c2 subluxation 31 HP:0003320
48 posterior rib cupping 31 HP:0000922
49 progressive calcification of costochondral cartilage 31 HP:0006600

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
micrognathia
flat midface

Head And Neck Eyes:
hypertelorism
prominent eyes

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
short ribs
anterior rib cupping
posterior rib cupping
progressive calcification of costochondral cartilage
more
Neurologic Central Nervous System:
syringomyelia
spinal cord compression
atlantoaxial instability
hypotonia
developmental delay

Skeletal Skull:
calcification of falx cerebri

Head And Neck Mouth:
high-arched palate

Skeletal Hands:
short fingers
short, wide phalanges
triangular shaped distal phalanges
short, wide metacarpals (wider distally than proximally)
carpal calcifications

Chest External Features:
bell-shaped chest
small chest

Head And Neck Neck:
calcified styloid process
calcified stylomandibular ligaments
calcified thyroid cartilage
calcified cricoid cartilage
calcified body and greater cornua of hyoid

Skeletal Spine:
scoliosis
platyspondyly
c1-c2 subluxation
hypoplastic odontoid process

Head And Neck Nose:
short nose
flat nasal bridge
broad nares

Skeletal Limbs:
elbow flexion contracture
knee flexion contracture
short limbs
short, broad tubular bones
disproportionately long fibulae
more
Skeletal Pelvis:
flared iliac wings
hip subluxation
short sciatic notch
short ischia

Skeletal:
spondyloepimetaphyseal dysplasia
epiphyseal stippling (hips, distal and proximal humeri, proximal and distal femora, distal fibulae, proximal and distal tibiae, distal radii and ulnae)

Respiratory Lung:
restrictive lung disease
pneumonia, recurrent episodes

Skeletal Feet:
metatarsus varus

Growth Height:
dwarfism, short-limbed

Respiratory Airways:
trachea calcifications
bronchi calcifications

Clinical features from OMIM®:

271665 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Search Clinical Trials , NIH Clinical Center for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Cochrane evidence based reviews: spondylometaepiphyseal dysplasia, short limb-hand type

Genetic Tests for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Genetic tests related to Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome 29 DDR2

Anatomical Context for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

MalaCards organs/tissues related to Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

40
Trachea, Spinal Cord, Bone, Lung, Thyroid

Publications for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Articles related to Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

(show all 13)
# Title Authors PMID Year
1
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients. 61 57 6
20223752 2010
2
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. 6 57 61
19110212 2009
3
Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type. 6 57
8818447 1996
4
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. 57 6
8434618 1993
5
Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. 57 61
19050401 2009
6
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
7
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. 57
19050402 2009
8
Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features. 57
8465857 1993
9
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification. 61
29884795 2018
10
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. 61
26463668 2016
11
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking. 61
24725993 2014
12
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence. 61
21818555 2011
13
Spliced-leader trans-splicing in freshwater planarians. 61
15972844 2005

Variations for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

ClinVar genetic disease variations for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DDR2 NM_006182.4(DDR2):c.2254C>T (p.Arg752Cys) SNV Pathogenic 12313 rs121964863 GRCh37: 1:162746131-162746131
GRCh38: 1:162776341-162776341
2 DDR2 NM_006182.4(DDR2):c.2177T>G (p.Ile726Arg) SNV Pathogenic 12314 rs121964864 GRCh37: 1:162746054-162746054
GRCh38: 1:162776264-162776264
3 DDR2 NM_006182.4(DDR2):c.2138C>T (p.Thr713Ile) SNV Pathogenic 12315 rs121964865 GRCh37: 1:162746015-162746015
GRCh38: 1:162776225-162776225
4 DDR2 NM_006182.4(DDR2):c.2283+1G>A SNV Pathogenic 12316 rs1571325076 GRCh37: 1:162746161-162746161
GRCh38: 1:162776371-162776371
5 DDR2 NM_006182.4(DDR2):c.337G>A (p.Glu113Lys) SNV Pathogenic 60759 rs397514747 GRCh37: 1:162724565-162724565
GRCh38: 1:162754775-162754775
6 DDR2 GRCh37/hg19 1q23.3(chr1:162748370-162748520) copy number loss Pathogenic 915984 GRCh37: 1:162748370-162748520
GRCh38:
7 DDR2 NM_006182.4(DDR2):c.2125C>T (p.Arg709Ter) SNV Pathogenic 1031023 GRCh37: 1:162746002-162746002
GRCh38: 1:162776212-162776212
8 DDR2 NM_006182.4(DDR2):c.2T>G (p.Met1Arg) SNV Conflicting interpretations of pathogenicity 631570 rs369864432 GRCh37: 1:162688855-162688855
GRCh38: 1:162719065-162719065
9 DDR2 NM_006182.4(DDR2):c.508A>T (p.Thr170Ser) SNV Uncertain significance 587431 rs201573606 GRCh37: 1:162725036-162725036
GRCh38: 1:162755246-162755246
10 DDR2 NM_006182.4(DDR2):c.1509C>T (p.Cys503=) SNV Uncertain significance 501659 rs144293078 GRCh37: 1:162741818-162741818
GRCh38: 1:162772028-162772028
11 DDR2 NM_006182.4(DDR2):c.2003G>A (p.Arg668His) SNV Uncertain significance 876650 GRCh37: 1:162745588-162745588
GRCh38: 1:162775798-162775798
12 DDR2 NM_006182.4(DDR2):c.2031C>T (p.Ser677=) SNV Uncertain significance 719940 rs773962213 GRCh37: 1:162745616-162745616
GRCh38: 1:162775826-162775826
13 DDR2 NM_006182.4(DDR2):c.833T>A (p.Ile278Asn) SNV Uncertain significance 1031024 GRCh37: 1:162729747-162729747
GRCh38: 1:162759957-162759957
14 DDR2 NM_006182.4(DDR2):c.494G>A (p.Arg165Gln) SNV Uncertain significance 1033076 GRCh37: 1:162725022-162725022
GRCh38: 1:162755232-162755232
15 DDR2 NM_006182.4(DDR2):c.408T>C (p.His136=) SNV Uncertain significance 197782 rs2271305 GRCh37: 1:162724636-162724636
GRCh38: 1:162754846-162754846
16 DDR2 NM_006182.4(DDR2):c.1099+12A>C SNV Uncertain significance 875650 GRCh37: 1:162731256-162731256
GRCh38: 1:162761466-162761466
17 DDR2 NM_006182.4(DDR2):c.932G>A (p.Ser311Asn) SNV Uncertain significance 293376 rs189870832 GRCh37: 1:162731077-162731077
GRCh38: 1:162761287-162761287
18 DDR2 NM_006182.4(DDR2):c.716T>C (p.Leu239Pro) SNV Uncertain significance 293374 rs578015216 GRCh37: 1:162729630-162729630
GRCh38: 1:162759840-162759840
19 DDR2 NM_006182.4(DDR2):c.2237G>A (p.Arg746Gln) SNV Uncertain significance 293381 rs771259035 GRCh37: 1:162746114-162746114
GRCh38: 1:162776324-162776324
20 DDR2 NM_006182.4(DDR2):c.*42C>A SNV Uncertain significance 293384 rs886045498 GRCh37: 1:162750078-162750078
GRCh38: 1:162780288-162780288
21 DDR2 NM_006182.4(DDR2):c.720C>T (p.Asp240=) SNV Uncertain significance 198839 rs141801107 GRCh37: 1:162729634-162729634
GRCh38: 1:162759844-162759844
22 DDR2 NM_006182.4(DDR2):c.383G>A (p.Arg128His) SNV Uncertain significance 293372 rs149507401 GRCh37: 1:162724611-162724611
GRCh38: 1:162754821-162754821
23 DDR2 NM_006182.4(DDR2):c.1005G>C (p.Thr335=) SNV Uncertain significance 293377 rs201957075 GRCh37: 1:162731150-162731150
GRCh38: 1:162761360-162761360
24 DDR2 NM_006182.4(DDR2):c.1508G>C (p.Cys503Ser) SNV Uncertain significance 293379 rs573628844 GRCh37: 1:162741817-162741817
GRCh38: 1:162772027-162772027
25 DDR2 NM_006182.4(DDR2):c.2253C>T (p.Ile751=) SNV Uncertain significance 293382 rs768825317 GRCh37: 1:162746130-162746130
GRCh38: 1:162776340-162776340
26 DDR2 NM_006182.4(DDR2):c.-219T>C SNV Uncertain significance 293370 rs2292335 GRCh37: 1:162602394-162602394
GRCh38: 1:162632604-162632604
27 DDR2 NM_006182.4(DDR2):c.*77C>G SNV Uncertain significance 293385 rs886045499 GRCh37: 1:162750113-162750113
GRCh38: 1:162780323-162780323
28 DDR2 NM_006182.4(DDR2):c.778C>T (p.Arg260Trp) SNV Uncertain significance 293375 rs200965319 GRCh37: 1:162729692-162729692
GRCh38: 1:162759902-162759902
29 DDR2 NM_006182.4(DDR2):c.476T>C (p.Ile159Thr) SNV Uncertain significance 293373 rs145611112 GRCh37: 1:162725004-162725004
GRCh38: 1:162755214-162755214
30 DDR2 NM_006182.4(DDR2):c.1142C>G (p.Pro381Arg) SNV Uncertain significance 293378 rs753466072 GRCh37: 1:162735833-162735833
GRCh38: 1:162766043-162766043
31 DDR2 NM_006182.4(DDR2):c.2068A>G (p.Met690Val) SNV Uncertain significance 293380 rs377626332 GRCh37: 1:162745945-162745945
GRCh38: 1:162776155-162776155
32 DDR2 NM_006182.4(DDR2):c.2397G>C (p.Glu799Asp) SNV Uncertain significance 293383 rs762649297 GRCh37: 1:162748483-162748483
GRCh38: 1:162778693-162778693
33 DDR2 NM_006182.4(DDR2):c.-27-11G>C SNV Uncertain significance 293371 rs180854216 GRCh37: 1:162688816-162688816
GRCh38: 1:162719026-162719026
34 DDR2 NM_006182.4(DDR2):c.2387A>T (p.Gln796Leu) SNV Uncertain significance 587430 rs1558083144 GRCh37: 1:162748473-162748473
GRCh38: 1:162778683-162778683
35 DDR2 NM_006182.4(DDR2):c.691C>T (p.Gln231Ter) SNV Uncertain significance 631571 rs760194869 GRCh37: 1:162729605-162729605
GRCh38: 1:162759815-162759815
36 DDR2 NM_006182.4(DDR2):c.1831C>T (p.Arg611Ter) SNV Uncertain significance 631572 rs928746429 GRCh37: 1:162743361-162743361
GRCh38: 1:162773571-162773571
37 DDR2 NM_006182.4(DDR2):c.100C>A (p.Leu34Met) SNV Uncertain significance 873755 GRCh37: 1:162722902-162722902
GRCh38: 1:162753112-162753112
38 DDR2 NM_006182.4(DDR2):c.243T>C (p.Asp81=) SNV Uncertain significance 733146 rs138537887 GRCh37: 1:162724471-162724471
GRCh38: 1:162754681-162754681
39 DDR2 NM_006182.4(DDR2):c.418-12C>T SNV Uncertain significance 873756 GRCh37: 1:162724934-162724934
GRCh38: 1:162755144-162755144
40 DDR2 NM_006182.4(DDR2):c.421C>T (p.Leu141=) SNV Uncertain significance 873757 GRCh37: 1:162724949-162724949
GRCh38: 1:162755159-162755159
41 DDR2 NM_006182.4(DDR2):c.510C>T (p.Thr170=) SNV Uncertain significance 259934 rs56313008 GRCh37: 1:162725038-162725038
GRCh38: 1:162755248-162755248
42 DDR2 NM_006182.4(DDR2):c.2481G>T (p.Leu827=) SNV Uncertain significance 259933 rs35077871 GRCh37: 1:162749949-162749949
GRCh38: 1:162780159-162780159
43 DDR2 NM_006182.4(DDR2):c.2504A>G (p.Asp835Gly) SNV Uncertain significance 873805 GRCh37: 1:162749972-162749972
GRCh38: 1:162780182-162780182
44 DDR2 NM_006182.4(DDR2):c.*16G>A SNV Uncertain significance 873806 GRCh37: 1:162750052-162750052
GRCh38: 1:162780262-162780262
45 DDR2 NM_006182.4(DDR2):c.*48A>G SNV Uncertain significance 873807 GRCh37: 1:162750084-162750084
GRCh38: 1:162780294-162780294
46 DDR2 NM_006182.4(DDR2):c.*152C>A SNV Uncertain significance 873808 GRCh37: 1:162750188-162750188
GRCh38: 1:162780398-162780398
47 DDR2 NM_006182.4(DDR2):c.520A>G (p.Met174Val) SNV Uncertain significance 874709 GRCh37: 1:162725048-162725048
GRCh38: 1:162755258-162755258
48 DDR2 NM_006182.4(DDR2):c.549C>T (p.Tyr183=) SNV Uncertain significance 874710 GRCh37: 1:162725077-162725077
GRCh38: 1:162755287-162755287
49 DDR2 NM_006182.4(DDR2):c.672-9C>A SNV Uncertain significance 874711 GRCh37: 1:162729577-162729577
GRCh38: 1:162759787-162759787
50 DDR2 NM_006182.4(DDR2):c.699C>T (p.Thr233=) SNV Uncertain significance 259935 rs56351141 GRCh37: 1:162729613-162729613
GRCh38: 1:162759823-162759823

UniProtKB/Swiss-Prot genetic disease variations for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type:

72
# Symbol AA change Variation ID SNP ID
1 DDR2 p.Thr713Ile VAR_063050 rs121964865
2 DDR2 p.Ile726Arg VAR_063051 rs121964864
3 DDR2 p.Arg752Cys VAR_063052 rs121964863
4 DDR2 p.Glu113Lys VAR_065719 rs397514747
5 DDR2 p.Arg124Trp VAR_075417

Expression for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Search GEO for disease gene expression data for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type.

Pathways for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

GO Terms for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Sources for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

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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