SEDC
MCID: SDC002
MIFTS: 53

Sed Congenita (SEDC) malady

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

Aliases & Classifications for Sed Congenita

Aliases & Descriptions for Sed Congenita:

Name: Sed Congenita 54 71 50 24 25 13 52
Spondyloepiphyseal Dysplasia Congenita 54 12 71 50 24 25 56 29 14
Sedc 50 25 56 66
Spondyloepiphyseal Dysplasia, Congenital Type 50 25
Spondyloepiphyseal Dysplasia Tarda, X-Linked; Sedt 12
Spondyloepiphyseal Dysplasia Tarda, X-Linked 69
Spondyloepiphyseal Dysplasia Congenital Type 66
Congenital Spondyloepiphyseal Dysplasia 56
Spondyloepiphyseal Dysplasia, Congenita 69
Late Spondyloepiphyseal Dysplasia 12
Spranger-Wiedemann Disease 56
Sed, Congenital Type 25

Characteristics:

Orphanet epidemiological data:

56
spondyloepiphyseal dysplasia congenita
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe);

HPO:

32
sed congenita:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 183900
Disease Ontology 12 DOID:14789
Orphanet 56 ORPHA94068
UMLS via Orphanet 70 C2745959
ICD10 via Orphanet 34 Q77.7
MESH via Orphanet 43 C535788

Summaries for Sed Congenita

NIH Rare Diseases : 50 spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the hip joint; and problems with vision and hearing. arthritis and decreased joint mobility often develop early in life. more than 175 cases have been reported in the scientific literature. this condition is caused by mutations in the col2a1 gene and is inherited in an autosomal dominant pattern. most cases result from new mutations in the gene and occur in people with no family history of the condition. last updated: 1/11/2012

MalaCards based summary : Sed Congenita, also known as spondyloepiphyseal dysplasia congenita, is related to smed strudwick type and spondyloepiphyseal dysplasia with congenital joint dislocations, and has symptoms including hypertelorism, short neck and osteoarthritis. An important gene associated with Sed Congenita is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone, and related phenotypes are cellular and growth/size/body region

UniProtKB/Swiss-Prot : 66 Spondyloepiphyseal dysplasia congenital type: Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.

Genetics Home Reference : 25 Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates that the condition is present from birth.

OMIM : 54 Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate... (183900) more...

Wikipedia : 71 Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of... more...

Related Diseases for Sed Congenita

Diseases related to Sed Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
id Related Disease Score Top Affiliating Genes
1 smed strudwick type 31.5 ASPN COL11A1 COL2A1 COMP GALNS SEMA3A
2 spondyloepiphyseal dysplasia with congenital joint dislocations 11.6
3 spondyloepiphyseal dysplasia tarda 11.0
4 cryptophthalmos, unilateral or bilateral, isolated 10.4 COL10A1 COL2A1
5 marshall syndrome 10.3 COL11A1 COL2A1
6 fibrochondrogenesis 1 10.3 COL11A1 COL2A1
7 achondrogenesis ib 10.3 COL2A1 COMP SLC26A2
8 intermediate uveitis 10.3 COL2A1 COMP SLC26A2
9 cerebral palsy 10.3 COL10A1 COL2A1 COMP
10 hemolytic anemia due to glutathione synthetase deficiency 10.3 ASPN COL2A1 COMP
11 spondyloperipheral dysplasia 10.3 COL10A1 COL2A1 SEMA3A
12 toenail dystrophy, isolated 10.2 COL2A1 FGFR3 IHH
13 microcephaly-cardiomyopathy 10.2 COL10A1 MMP13
14 cngb3-related stargardt disease 1 10.2 COL1A1 COL1A2
15 combined oxidative phosphorylation deficiency 2 10.2 COL2A1 FGFR3 GALNS SLC26A2
16 sp7-related osteogenesis imperfecta 10.2 COL2A1 COMP FGFR3 SLC26A2
17 coronary heart disease 4 10.2 COL2A1 SLC26A2
18 isolated lissencephaly type 1 without known genetic defects 10.2 COL1A1 COL1A2
19 charcot-marie-tooth neuropathy type 2a 10.2 COL1A1 COL1A2
20 prph2-related retinitis pigmentosa 10.2 COL1A1 COL1A2
21 20p13 microdeletion syndrome 10.2 COL1A1 COL1A2
22 phyh-related refsum disease 10.2 COL1A1 COL1A2
23 epileptic encephalopathy, early infantile, 36 10.2 COL1A1 COL1A2
24 alpha-methylacetoacetic aciduria 10.2 MMP13 SEMA3A
25 pilocytic astrocytoma of cerebellum 10.2 COL1A1 COL2A1
26 porphyria cutanea tarda 10.2 COL1A1 COL1A2
27 epiphyseal dysplasia, multiple, with myopia and deafness 10.2 COL11A1 COL2A1 COMP SEMA3A
28 short stature, optic nerve atrophy, and pelger-huet anomaly 10.2 COL2A1 DDR2 MMP13
29 vitelliform macular dystrophy 10.1 COMP FGFR3 FLNA SLC26A2
30 achondroplasia 10.1
31 pseudoachondroplasia 10.1
32 splenic flexure cancer 10.1 COL1A1 COL1A2 SLC26A2
33 human herpesvirus 8 10.1 COL1A1 COL1A2
34 metatropic dysplasia 10.1 COL2A1 GALNS TRAPPC2B
35 deafness, autosomal recessive 61 10.1 COL1A1 COL1A2 FGFR3
36 lissencephaly, x-linked 2 10.1 COL2A1 GALNS TRAPPC2B
37 osteogenesis imperfecta, type iii 10.1 COL1A1 COL1A2
38 mental retardation, autosomal recessive 35 10.1 COL1A1 COL1A2 FGFR3
39 factor xiiia deficiency 10.1 COL1A1 COL1A2 COL3A1
40 muscle hypertrophy 10.1 COL1A1 COL1A2 COL3A1
41 bone angioendothelial sarcoma 10.1 COL2A1 COMP MMP13
42 long qt syndrome 1 10.1 COL1A1 COL1A2 IHH
43 sclerocornea 10.1 COL1A1 COL1A2 COL2A1
44 slti salem syndrome 10.1 COL2A1 COMP FGFR3 FLNA SLC26A2
45 albright's hereditary osteodystrophy 10.1 ASPN COL11A1 COL2A1 COMP SEMA3A
46 muscular dystrophy-dystroglycanopathy 10.1 COL2A1 IHH RUNX2
47 robinow-sorauf syndrome 10.1 COL1A2 FGFR3 RUNX2
48 plantar nerve lesion 10.1 COL11A1 COL2A1
49 cervicitis 10.1
50 atlantoaxial subluxation 10.1

Graphical network of the top 20 diseases related to Sed Congenita:



Diseases related to Sed Congenita

Symptoms & Phenotypes for Sed Congenita

Symptoms by clinical synopsis from OMIM:

183900

Clinical features from OMIM:

183900

Human phenotypes related to Sed Congenita:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Frequent (79-30%) HP:0000316
2 short neck 56 32 Very frequent (99-80%) HP:0000470
3 osteoarthritis 56 32 Frequent (79-30%) HP:0002758
4 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
5 nystagmus 56 32 Occasional (29-5%) HP:0000639
6 scoliosis 56 32 Occasional (29-5%) HP:0002650
7 kyphosis 56 32 Occasional (29-5%) HP:0002808
8 hyperlordosis 56 32 Frequent (79-30%) HP:0003307
9 hearing impairment 56 32 Occasional (29-5%) HP:0000365
10 cataract 56 32 Occasional (29-5%) HP:0000518
11 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
12 short stature 56 32 Very frequent (99-80%) HP:0004322
13 cleft palate 56 32 Frequent (79-30%) HP:0000175
14 narrow chest 56 32 Very frequent (99-80%) HP:0000774
15 platyspondyly 56 32 Very frequent (99-80%) HP:0000926
16 micromelia 56 32 Very frequent (99-80%) HP:0002983
17 limitation of joint mobility 56 32 Frequent (79-30%) HP:0001376
18 short thorax 56 32 Very frequent (99-80%) HP:0010306
19 flat face 56 32 Frequent (79-30%) HP:0012368
20 broad forehead 56 32 Frequent (79-30%) HP:0000337
21 myopia 56 32 Occasional (29-5%) HP:0000545
22 glaucoma 56 32 Occasional (29-5%) HP:0000501
23 retinal detachment 56 32 Occasional (29-5%) HP:0000541
24 talipes equinovarus 56 32 Frequent (79-30%) HP:0001762
25 coxa vara 56 32 Frequent (79-30%) HP:0002812
26 respiratory distress 32 HP:0002098
27 waddling gait 32 HP:0002515
28 malar flattening 32 HP:0000272
29 muscular hypotonia 32 HP:0001252
30 pectus carinatum 32 HP:0000768
31 ovoid vertebral bodies 32 HP:0003300
32 hip dislocation 32 HP:0002827
33 limited elbow movement 32 HP:0002996
34 flattened epiphysis 32 HP:0003071
35 hypoplasia of the odontoid process 32 HP:0003311
36 vitreoretinal degeneration 32 HP:0000655
37 lumbar hyperlordosis 32 HP:0002938
38 delayed pubic bone ossification 32 HP:0008788
39 spondyloepiphyseal dysplasia 32 HP:0002655
40 limited hip movement 32 HP:0008800
41 restrictive ventilatory defect 32 HP:0002091
42 barrel-shaped chest 32 HP:0001552
43 cervical myelopathy 32 HP:0002318
44 delayed calcaneal ossification 32 HP:0008142
45 neonatal short-trunk short stature 32 HP:0008857
46 limitation of knee mobility 32 HP:0010501

UMLS symptoms related to Sed Congenita:


waddling gait, respiratory distress, arthralgia

MGI Mouse Phenotypes related to Sed Congenita:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.37 COL10A1 COL1A1 COL1A2 SEMA3A SLC26A2 COL3A1
2 growth/size/body region MP:0005378 10.35 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
3 cardiovascular system MP:0005385 10.28 COL1A1 COL1A2 COL2A1 COL3A1 COMP DDR2
4 homeostasis/metabolism MP:0005376 10.23 COL1A1 COL1A2 COL2A1 COL3A1 COMP DDR2
5 craniofacial MP:0005382 10.21 SLC26A2 COL10A1 COL11A1 COL1A1 COL2A1 DDR2
6 immune system MP:0005387 10.21 FGFR3 FLNA LAX1 RUNX2 SDC1 SEMA3A
7 limbs/digits/tail MP:0005371 10.18 FGFR3 IHH MMP13 RUNX2 SLC26A2 ASPN
8 mortality/aging MP:0010768 10.17 SLC26A2 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1
9 digestive/alimentary MP:0005381 10.1 COL11A1 COL1A1 COL2A1 COL3A1 FGFR3 FLNA
10 integument MP:0010771 10.01 COL1A1 COL1A2 COL3A1 DDR2 FGFR3 MMP13
11 skeleton MP:0005390 9.83 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COMP
12 respiratory system MP:0005388 9.81 COL11A1 COL1A1 COL2A1 COL3A1 FGFR3 FLNA
13 muscle MP:0005369 9.8 COL1A2 COL3A1 COMP DDR2 IHH RUNX2
14 vision/eye MP:0005391 9.23 COL2A1 DDR2 FGFR3 FLNA GALNS IHH

Drugs & Therapeutics for Sed Congenita

Interventional clinical trials:


id Name Status NCT ID Phase
1 Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Unknown status NCT02144532
2 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
3 Study of Skeletal Disorders and Short Stature Completed NCT00001754
4 Patient Education Program and Ehlers-Danlos Syndrome Completed NCT02817490

Search NIH Clinical Center for Sed Congenita

Genetic Tests for Sed Congenita

Genetic tests related to Sed Congenita:

id Genetic test Affiliating Genes
1 Spondyloepiphyseal Dysplasia Congenita 29 24 COL2A1

Anatomical Context for Sed Congenita

MalaCards organs/tissues related to Sed Congenita:

39
Bone

Publications for Sed Congenita

Articles related to Sed Congenita:

id Title Authors Year
1
Morphologic observations on four cases of SED congenita. ( 4138492 )
1974

Variations for Sed Congenita

UniProtKB/Swiss-Prot genetic disease variations for Sed Congenita:

66
id Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly375Arg VAR_001743
2 COL2A1 p.Gly447Ser VAR_001744
3 COL2A1 p.Gly774Ser VAR_001749 rs121912867
4 COL2A1 p.Gly891Arg VAR_001752 rs121912879
5 COL2A1 p.Arg989Cys VAR_001755 rs121912874
6 COL2A1 p.Gly1176Ser VAR_001763
7 COL2A1 p.Gly1197Ser VAR_001765 rs121912870
8 COL2A1 p.Thr1439Met VAR_017105 rs121912886
9 COL2A1 p.Gly1173Arg VAR_017651 rs121912883
10 COL2A1 p.Gly855Ser VAR_023930

ClinVar genetic disease variations for Sed Congenita:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.3490_3597del108 deletion Pathogenic GRCh38 Chromosome 12, 47975961: 47976351
2 COL2A1 COL2A1, 45-BP DUP, EX48 duplication Pathogenic
3 COL2A1 NM_001844.4(COL2A1): c.3589G> A (p.Gly1197Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912870 GRCh37 Chromosome 12, 48369754: 48369754
4 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh37 Chromosome 12, 48372112: 48372112
5 COL2A1 NM_001844.4(COL2A1): c.3517G> C (p.Gly1173Arg) single nucleotide variant Pathogenic rs121912883 GRCh37 Chromosome 12, 48369826: 48369826
6 COL2A1 NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met) single nucleotide variant Pathogenic/Likely pathogenic rs121912886 GRCh37 Chromosome 12, 48367873: 48367873
7 COL2A1 NM_001844.4(COL2A1): c.1358G> C (p.Gly453Ala) single nucleotide variant Pathogenic rs794727339 GRCh37 Chromosome 12, 48380868: 48380868
8 COL2A1 NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser) single nucleotide variant Pathogenic rs121912880 GRCh37 Chromosome 12, 48380136: 48380136
9 COL2A1 NM_001844.4(COL2A1): c.3275G> A (p.Gly1092Asp) single nucleotide variant Likely pathogenic rs794727684 GRCh37 Chromosome 12, 48370937: 48370937
10 COL2A1 NM_001844.4(COL2A1): c.3301G> A (p.Gly1101Arg) single nucleotide variant Pathogenic rs864621973 GRCh37 Chromosome 12, 48370911: 48370911
11 COL2A1 NM_001844.4(COL2A1): c.1717G> C (p.Gly573Arg) single nucleotide variant Likely pathogenic rs886042741 GRCh37 Chromosome 12, 48379334: 48379334
12 COL2A1 NM_001844.4(COL2A1): c.1340G> A (p.Gly447Asp) single nucleotide variant Likely pathogenic rs886043561 GRCh37 Chromosome 12, 48380886: 48380886
13 COL2A1 NM_001844.4(COL2A1): c.1636G> A (p.Gly546Ser) single nucleotide variant Pathogenic rs886044555 GRCh37 Chromosome 12, 48379555: 48379555

Expression for Sed Congenita

Search GEO for disease gene expression data for Sed Congenita.

Pathways for Sed Congenita

Pathways related to Sed Congenita according to GeneCards Suite gene sharing:

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
2
Show member pathways
13.28 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
3
Show member pathways
12.86 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
4
Show member pathways
12.77 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1 COMP
5
Show member pathways
12.7 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
6 12.44 COL1A1 COL1A2 COL2A1 COMP FGFR3
7
Show member pathways
12.02 ASPN COL10A1 COL11A1 COL1A1 COL1A2 COL2A1
8
Show member pathways
11.98 COL1A1 COL1A2 COL2A1 COMP SDC1
9 11.79 COL10A1 COL1A1 COL3A1
10
Show member pathways
11.77 COL1A1 COL1A2 COL3A1
11 11.74 COL1A1 COL1A2 COL3A1
12 11.72 COL1A1 COL1A2 COL3A1
13 11.71 COL2A1 RUNX2 SDC1
14 11.44 COL1A1 COL1A2 COL2A1 COL3A1 MMP13
15 11.41 COL1A1 COL1A2 COL3A1
16 11.31 COL10A1 COL2A1 DDR2 FGFR3 IHH MMP13
17 11.2 COL2A1 COMP DDR2 SDC1
18 11.17 COL1A1 COL1A2 COL3A1
19 11.14 COL1A1 COL1A2 IHH MMP13 RUNX2

GO Terms for Sed Congenita

Cellular components related to Sed Congenita according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.81 ASPN COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
2 endoplasmic reticulum lumen GO:0005788 9.8 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
3 collagen trimer GO:0005581 9.5 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
4 collagen type I trimer GO:0005584 9.4 COL1A1 COL1A2
5 proteinaceous extracellular matrix GO:0005578 9.32 ASPN COL10A1 COL11A1 COL1A1 COL1A2 COL2A1
6 extracellular region GO:0005576 10.13 ASPN COL10A1 COL11A1 COL1A1 COL1A2 COL2A1
7 extracellular space GO:0005615 10.02 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1 COMP

Biological processes related to Sed Congenita according to GeneCards Suite gene sharing:

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.92 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
2 regulation of immune response GO:0050776 9.88 COL1A1 COL1A2 COL2A1 COL3A1
3 ossification GO:0001503 9.85 COL11A1 COL1A1 COL2A1 DDR2 RUNX2 SLC26A2
4 osteoblast differentiation GO:0001649 9.8 COL1A1 IHH RUNX2
5 platelet activation GO:0030168 9.8 COL1A1 COL1A2 COL3A1 FLNA
6 wound healing GO:0042060 9.79 COL1A1 COL3A1 SDC1
7 cartilage development GO:0051216 9.78 COL10A1 COL11A1 COL2A1 MMP13
8 cellular response to amino acid stimulus GO:0071230 9.73 COL1A1 COL1A2 COL3A1
9 skeletal system morphogenesis GO:0048705 9.73 COL11A1 COL1A1 COL2A1 RUNX2
10 collagen fibril organization GO:0030199 9.73 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1 DDR2
11 blood vessel development GO:0001568 9.71 COL1A1 COL1A2 COL3A1
12 chondrocyte differentiation GO:0002062 9.7 COL2A1 FGFR3 RUNX2
13 collagen catabolic process GO:0030574 9.7 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1
14 bone mineralization GO:0030282 9.69 ASPN FGFR3 MMP13
15 positive regulation of chondrocyte differentiation GO:0032332 9.63 IHH RUNX2
16 chondrocyte development GO:0002063 9.63 COL11A1 RUNX2
17 chondrocyte proliferation GO:0035988 9.63 DDR2 FGFR3 IHH
18 protein heterotrimerization GO:0070208 9.61 COL1A1 COL1A2
19 positive regulation of neuron migration GO:2001224 9.61 FLNA SEMA3A
20 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.6 COL1A1 DDR2
21 skin morphogenesis GO:0043589 9.59 COL1A1 COL1A2
22 endochondral bone growth GO:0003416 9.58 DDR2 FGFR3
23 proteoglycan metabolic process GO:0006029 9.58 COL11A1 COL2A1 IHH
24 growth plate cartilage development GO:0003417 9.57 COMP MMP13
25 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.55 COL1A1 COL2A1
26 endochondral ossification GO:0001958 9.43 COL10A1 COL1A1 COL2A1 FGFR3 MMP13 RUNX2
27 skeletal system development GO:0001501 9.28 COL10A1 COL1A1 COL1A2 COL2A1 COL3A1 COMP

Molecular functions related to Sed Congenita according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.56 COL1A1 COL1A2 COL3A1 COMP
2 SMAD binding GO:0046332 9.5 COL1A2 COL3A1 FLNA
3 collagen binding GO:0005518 9.46 ASPN COMP DDR2 MMP13
4 platelet-derived growth factor binding GO:0048407 9.26 COL1A1 COL1A2 COL2A1 COL3A1
5 extracellular matrix structural constituent GO:0005201 9.1 COL11A1 COL1A1 COL1A2 COL2A1 COL3A1 COMP

Sources for Sed Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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