EDSDERMS
MCID: EHL079
MIFTS: 33

Ehlers-Danlos Syndrome, Dermatosparaxis Type (EDSDERMS)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Dermatosparaxis Type

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Dermatosparaxis Type:

Name: Ehlers-Danlos Syndrome, Dermatosparaxis Type 58 54 60 76 74
Dermatosparaxis 58 54 76 56 41
Ehlers-Danlos Syndrome, Type Vii, Autosomal Recessive 58 76 30 6
Eds Viic 58 60 76
Edsderms 58 76
Eds7c 58 76
Dermatosparaxis Ehlers-Danlos Syndrome 54
Ehlers-Danlos Syndrome, Type Viic 13
Ehlers-Danlos Syndrome Type 7c 60
Ehlers-Danlos Syndrome 7c 76
Dermatosparaxis Eds 54
Deds 54

Characteristics:

Orphanet epidemiological data:

60
ehlers-danlos syndrome, dermatosparaxis type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
internal organ rupture may occur


HPO:

33
ehlers-danlos syndrome, dermatosparaxis type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Dermatosparaxis Type

NIH Rare Diseases : 54 Dermatosparaxis Ehlers-Danlos syndrome (dEDS) is an inheritedconnective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. EDS, dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene and is inherited in an autosomal recessive manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

MalaCards based summary : Ehlers-Danlos Syndrome, Dermatosparaxis Type, also known as dermatosparaxis, is related to ehlers-danlos syndrome and human immunodeficiency virus infectious disease, and has symptoms including swelling of eyelid An important gene associated with Ehlers-Danlos Syndrome, Dermatosparaxis Type is ADAMTS2 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2). Affiliated tissues include skin and bone, and related phenotypes are osteopenia and muscular hypotonia

OMIM : 58 Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle (Lapiere et al., 1971). Lapiere and Nusgens (1993) reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human. (225410)

UniProtKB/Swiss-Prot : 76 Ehlers-Danlos syndrome, dermatosparaxis type: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age.

Related Diseases for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Diseases related to Ehlers-Danlos Syndrome, Dermatosparaxis Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 10.6
2 human immunodeficiency virus infectious disease 10.3
3 molluscum contagiosum 10.3

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Human phenotypes related to Ehlers-Danlos Syndrome, Dermatosparaxis Type:

60 33 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000938
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 dysphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002357
4 hip dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001385
5 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
6 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
7 rickets 60 33 hallmark (90%) Very frequent (99-80%) HP:0002748
8 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
9 coxa valga 60 33 hallmark (90%) Very frequent (99-80%) HP:0002673
10 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
11 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
12 aphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002381
13 hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002827
14 osteomalacia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002749
15 esophagitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100633
16 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
17 prolonged bleeding time 60 33 hallmark (90%) Very frequent (99-80%) HP:0003010
18 coxa vara 60 33 hallmark (90%) Very frequent (99-80%) HP:0002812
19 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
20 hiatus hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002036
21 avascular necrosis of the capital femoral epiphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005743
22 scarring 60 33 hallmark (90%) Very frequent (99-80%) HP:0100699
23 excessive wrinkled skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0007392
24 echolalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0010529
25 mutism 60 33 hallmark (90%) Very frequent (99-80%) HP:0002300
26 abnormality of subcutaneous fat tissue 60 33 hallmark (90%) Very frequent (99-80%) HP:0001001
27 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
28 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
29 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
30 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
31 retrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000278
32 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
33 femoral hernia 60 33 frequent (33%) Frequent (79-30%) HP:0100541
34 joint dislocation 60 Very frequent (99-80%)
35 gingival overgrowth 33 HP:0000212
36 umbilical hernia 33 HP:0001537
37 thick vermilion border 33 HP:0012471
38 short stature 33 HP:0004322
39 hernia 60 Very frequent (99-80%)
40 micromelia 33 HP:0002983
41 everted lower lip vermilion 33 HP:0000232
42 myopia 33 HP:0000545
43 short toe 33 HP:0001831
44 motor delay 33 HP:0001270
45 joint laxity 33 HP:0001388
46 downslanted palpebral fissures 33 HP:0000494
47 bruising susceptibility 33 HP:0000978
48 gingival bleeding 33 HP:0000225
49 hypodontia 33 HP:0000668
50 redundant skin 33 HP:0001582

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteopenia
joint laxity, marked

Abdomen External Features:
umbilical hernia

Head And Neck Face:
micrognathia
recurrent mandibular subluxations

Head And Neck Mouth:
gingival bleeding
gingival hyperkeratosis
gingival hyperplasia
prominent lips
frontal open bite
more
Prenatal Manifestations Delivery:
premature rupture of membranes
premature delivery

Head And Neck Head:
large anterior fontanel
delayed closure anterior fontanel

Skeletal Limbs:
short limbs

Skeletal Feet:
short toes

Skin Nails Hair Skin Electron Microscopy:
collagen fibrils show hieroglyphic pattern

Genitourinary External Genitalia Male:
inguinal hernia

Growth Height:
short stature

Head And Neck Eyes:
myopia
blue sclerae
downslanting palpebral fissures
epicanthal folds
puffy eyelids
more
Head And Neck Teeth:
hypodontia
tooth discoloration
deciduous molars show abnormal morphology
deciduous dentition shows enamel attrition

Skin Nails Hair Skin:
soft, doughy skin
normal wound healing
easy bruisability
skin fragility
sagging, redundant skin

Skeletal Hands:
short fingers

Neurologic Central Nervous System:
delayed motor milestones

Respiratory Lung:
neonatal pneumothorax

Skin Nails Hair Hair:
hirsutism, mild

Clinical features from OMIM:

225410

UMLS symptoms related to Ehlers-Danlos Syndrome, Dermatosparaxis Type:


swelling of eyelid

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Genetic Tests for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Genetic tests related to Ehlers-Danlos Syndrome, Dermatosparaxis Type:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type Vii, Autosomal Recessive 30 ADAMTS2

Anatomical Context for Ehlers-Danlos Syndrome, Dermatosparaxis Type

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Dermatosparaxis Type:

42
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Articles related to Ehlers-Danlos Syndrome, Dermatosparaxis Type:

(show all 24)
# Title Authors Year
1
Dermatosparaxis in White Dorper sheep: confirmation of a causative nonsense mutation in ADAMTS2. ( 28856769 )
2017
2
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. ( 26765342 )
2016
3
Dermatosparaxis in two Limousin calves. ( 27777746 )
2016
4
In silico identification and three-dimensional modelling of the missense mutation in ADAMTS2 in a sheep flock with dermatosparaxis. ( 25354687 )
2015
5
Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery. ( 23495203 )
2013
6
A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep. ( 22497338 )
2012
7
The occurrence of dermatosparaxis in a commercial Drakensberger cattle herd in South Africa. ( 18678187 )
2008
8
Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis. ( 16556917 )
2006
9
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). ( 15389701 )
2004
10
Dermatosparaxis in children. A case report and review of the newly recognized phenotype. ( 8215497 )
1993
11
Ehlers-Danlos type VII-C, or human dermatosparaxis. The offspring of a union between basic and clinical research. ( 8215498 )
1993
12
Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC. ( 1403389 )
1992
13
Dermatosparaxis in White Dorper sheep. ( 3361559 )
1988
14
Morphometric study of cauliflower collagen fibrils in dermatosparaxis of the calves. ( 3581753 )
1987
15
A morphologic study of a mild form of ovine dermatosparaxis. ( 3998490 )
1985
16
A mild form of ovine dermatosparaxis. ( 6441674 )
1984
17
Ovine dermatosparaxis. ( 6412675 )
1983
18
Dermatosparaxis in a Himalayan cat: II. Ultrastructural studies of dermal collagen. ( 7351497 )
1980
19
Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen. ( 7351504 )
1980
20
Bone in dermatosparaxis. I. Morphologic analysis. ( 953790 )
1976
21
Bone in dermatosparaxis. II. Chemical analysis. ( 953791 )
1976
22
Skin in dermatosparaxis. Dermal microarchitecture and biomechanical properties. ( 1245753 )
1976
23
Inheritance of dermatosparaxis in the calf. A genetic defect of connective tissues. ( 4448898 )
1974
24
Cell-free synthesis of procollagen: L-929 fibroblasts as a cellular model for dermatosparaxis. ( 4351174 )
1973

Variations for Ehlers-Danlos Syndrome, Dermatosparaxis Type

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Dermatosparaxis Type:

6 (show top 50) (show all 398)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTS2 NM_014244.4(ADAMTS2): c.1281C> T (p.Asp427=) single nucleotide variant Benign/Likely benign rs34424371 GRCh37 Chromosome 5, 178581151: 178581151
2 ADAMTS2 NM_014244.4(ADAMTS2): c.1281C> T (p.Asp427=) single nucleotide variant Benign/Likely benign rs34424371 GRCh38 Chromosome 5, 179154150: 179154150
3 ADAMTS2 NM_014244.4(ADAMTS2): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic rs137853146 GRCh37 Chromosome 5, 178699927: 178699927
4 ADAMTS2 NM_014244.4(ADAMTS2): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic rs137853146 GRCh38 Chromosome 5, 179272926: 179272926
5 ADAMTS2 NM_014244.4(ADAMTS2): c.2384G> A (p.Trp795Ter) single nucleotide variant Likely pathogenic rs137853147 GRCh37 Chromosome 5, 178557006: 178557006
6 ADAMTS2 NM_014244.4(ADAMTS2): c.2384G> A (p.Trp795Ter) single nucleotide variant Likely pathogenic rs137853147 GRCh38 Chromosome 5, 179130005: 179130005
7 ADAMTS2 NG_023212.2: g.(6563_77264)_(169258_191449)del deletion Pathogenic GRCh38 Chromosome 5, 179158880: 179343766
8 ADAMTS2 NG_023212.2: g.(6563_77264)_(169258_191449)del deletion Pathogenic GRCh37 Chromosome 5, 178585881: 178770767
9 ADAMTS2 NM_014244.4(ADAMTS2): c.1629+9G> A single nucleotide variant Benign/Likely benign rs115550684 GRCh37 Chromosome 5, 178579134: 178579134
10 ADAMTS2 NM_014244.4(ADAMTS2): c.1629+9G> A single nucleotide variant Benign/Likely benign rs115550684 GRCh38 Chromosome 5, 179152133: 179152133
11 ADAMTS2 NM_014244.4(ADAMTS2): c.2959-17C> T single nucleotide variant Benign rs2303641 GRCh37 Chromosome 5, 178549791: 178549791
12 ADAMTS2 NM_014244.4(ADAMTS2): c.2959-17C> T single nucleotide variant Benign rs2303641 GRCh38 Chromosome 5, 179122790: 179122790
13 ADAMTS2 NM_014244.4(ADAMTS2): c.1194C> T (p.Asp398=) single nucleotide variant Benign rs2278221 GRCh37 Chromosome 5, 178581859: 178581859
14 ADAMTS2 NM_014244.4(ADAMTS2): c.1194C> T (p.Asp398=) single nucleotide variant Benign rs2278221 GRCh38 Chromosome 5, 179154858: 179154858
15 ADAMTS2 NM_014244.4(ADAMTS2): c.1238+18G> A single nucleotide variant Benign rs2278222 GRCh37 Chromosome 5, 178581797: 178581797
16 ADAMTS2 NM_014244.4(ADAMTS2): c.1238+18G> A single nucleotide variant Benign rs2278222 GRCh38 Chromosome 5, 179154796: 179154796
17 ADAMTS2 NM_014244.4(ADAMTS2): c.94C> T (p.Pro32Ser) single nucleotide variant Uncertain significance rs547548078 GRCh37 Chromosome 5, 178772236: 178772236
18 ADAMTS2 NM_014244.4(ADAMTS2): c.94C> T (p.Pro32Ser) single nucleotide variant Uncertain significance rs547548078 GRCh38 Chromosome 5, 179345235: 179345235
19 ADAMTS2 NM_014244.4(ADAMTS2): c.*2918G> A single nucleotide variant Likely benign rs60250623 GRCh37 Chromosome 5, 178537950: 178537950
20 ADAMTS2 NM_014244.4(ADAMTS2): c.*2918G> A single nucleotide variant Likely benign rs60250623 GRCh38 Chromosome 5, 179110949: 179110949
21 ADAMTS2 NM_014244.4(ADAMTS2): c.*2854T> C single nucleotide variant Uncertain significance rs11740156 GRCh37 Chromosome 5, 178538014: 178538014
22 ADAMTS2 NM_014244.4(ADAMTS2): c.*2854T> C single nucleotide variant Uncertain significance rs11740156 GRCh38 Chromosome 5, 179111013: 179111013
23 ADAMTS2 NM_014244.4(ADAMTS2): c.*2598A> G single nucleotide variant Uncertain significance rs371733200 GRCh37 Chromosome 5, 178538270: 178538270
24 ADAMTS2 NM_014244.4(ADAMTS2): c.*2598A> G single nucleotide variant Uncertain significance rs371733200 GRCh38 Chromosome 5, 179111269: 179111269
25 ADAMTS2 NM_014244.4(ADAMTS2): c.*2439C> T single nucleotide variant Likely benign rs78886769 GRCh37 Chromosome 5, 178538429: 178538429
26 ADAMTS2 NM_014244.4(ADAMTS2): c.*2439C> T single nucleotide variant Likely benign rs78886769 GRCh38 Chromosome 5, 179111428: 179111428
27 ADAMTS2 NM_014244.4(ADAMTS2): c.*2270C> T single nucleotide variant Uncertain significance rs886060483 GRCh37 Chromosome 5, 178538598: 178538598
28 ADAMTS2 NM_014244.4(ADAMTS2): c.*2270C> T single nucleotide variant Uncertain significance rs886060483 GRCh38 Chromosome 5, 179111597: 179111597
29 ADAMTS2 NM_014244.4(ADAMTS2): c.*2147C> T single nucleotide variant Uncertain significance rs886060484 GRCh37 Chromosome 5, 178538721: 178538721
30 ADAMTS2 NM_014244.4(ADAMTS2): c.*2147C> T single nucleotide variant Uncertain significance rs886060484 GRCh38 Chromosome 5, 179111720: 179111720
31 ADAMTS2 NM_014244.4(ADAMTS2): c.*1797C> T single nucleotide variant Uncertain significance rs553329835 GRCh38 Chromosome 5, 179112070: 179112070
32 ADAMTS2 NM_014244.4(ADAMTS2): c.*1797C> T single nucleotide variant Uncertain significance rs553329835 GRCh37 Chromosome 5, 178539071: 178539071
33 ADAMTS2 NM_014244.4(ADAMTS2): c.*1586A> G single nucleotide variant Benign rs888760 GRCh38 Chromosome 5, 179112281: 179112281
34 ADAMTS2 NM_014244.4(ADAMTS2): c.*1586A> G single nucleotide variant Benign rs888760 GRCh37 Chromosome 5, 178539282: 178539282
35 ADAMTS2 NM_014244.4(ADAMTS2): c.*1361A> G single nucleotide variant Uncertain significance rs142875628 GRCh38 Chromosome 5, 179112506: 179112506
36 ADAMTS2 NM_014244.4(ADAMTS2): c.*1361A> G single nucleotide variant Uncertain significance rs142875628 GRCh37 Chromosome 5, 178539507: 178539507
37 ADAMTS2 NM_014244.4(ADAMTS2): c.*843G> A single nucleotide variant Uncertain significance rs778909760 GRCh38 Chromosome 5, 179113024: 179113024
38 ADAMTS2 NM_014244.4(ADAMTS2): c.*843G> A single nucleotide variant Uncertain significance rs778909760 GRCh37 Chromosome 5, 178540025: 178540025
39 ADAMTS2 NM_014244.4(ADAMTS2): c.*816C> T single nucleotide variant Uncertain significance rs116130524 GRCh38 Chromosome 5, 179113051: 179113051
40 ADAMTS2 NM_014244.4(ADAMTS2): c.*816C> T single nucleotide variant Uncertain significance rs116130524 GRCh37 Chromosome 5, 178540052: 178540052
41 ADAMTS2 NM_014244.4(ADAMTS2): c.*181C> T single nucleotide variant Uncertain significance rs886060489 GRCh37 Chromosome 5, 178540687: 178540687
42 ADAMTS2 NM_014244.4(ADAMTS2): c.*181C> T single nucleotide variant Uncertain significance rs886060489 GRCh38 Chromosome 5, 179113686: 179113686
43 ADAMTS2 NM_014244.4(ADAMTS2): c.3480C> A (p.Ala1160=) single nucleotide variant Benign/Likely benign rs34437036 GRCh37 Chromosome 5, 178541024: 178541024
44 ADAMTS2 NM_014244.4(ADAMTS2): c.3480C> A (p.Ala1160=) single nucleotide variant Benign/Likely benign rs34437036 GRCh38 Chromosome 5, 179114023: 179114023
45 ADAMTS2 NM_014244.4(ADAMTS2): c.3449A> G (p.Asn1150Ser) single nucleotide variant Uncertain significance rs200982805 GRCh37 Chromosome 5, 178541055: 178541055
46 ADAMTS2 NM_014244.4(ADAMTS2): c.3449A> G (p.Asn1150Ser) single nucleotide variant Uncertain significance rs200982805 GRCh38 Chromosome 5, 179114054: 179114054
47 ADAMTS2 NM_014244.4(ADAMTS2): c.2980G> A (p.Gly994Ser) single nucleotide variant Uncertain significance rs142429109 GRCh37 Chromosome 5, 178549753: 178549753
48 ADAMTS2 NM_014244.4(ADAMTS2): c.2980G> A (p.Gly994Ser) single nucleotide variant Uncertain significance rs142429109 GRCh38 Chromosome 5, 179122752: 179122752
49 ADAMTS2 NM_014244.4(ADAMTS2): c.2817C> T (p.Ser939=) single nucleotide variant Conflicting interpretations of pathogenicity rs201215425 GRCh37 Chromosome 5, 178552115: 178552115
50 ADAMTS2 NM_014244.4(ADAMTS2): c.2817C> T (p.Ser939=) single nucleotide variant Conflicting interpretations of pathogenicity rs201215425 GRCh38 Chromosome 5, 179125114: 179125114

Expression for Ehlers-Danlos Syndrome, Dermatosparaxis Type

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Dermatosparaxis Type.

Pathways for Ehlers-Danlos Syndrome, Dermatosparaxis Type

GO Terms for Ehlers-Danlos Syndrome, Dermatosparaxis Type

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