MCID: EHL033
MIFTS: 46

Ehlers-Danlos Syndrome, Classic Type

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Classic Type

Summaries for Ehlers-Danlos Syndrome, Classic Type

NIH Rare Diseases : 53 Classical Ehlers-Danlos syndrome(EDS) is a genetic connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include skin hyperextensibility, abnormal wound healing, and joint hypermobility. More than 90% of people with classical EDS have mutations in COL5A1 or COL5A2, two genes which encode type V collagen. In rare cases, mutations in the gene encoding type I collagen, COL1A1 gene, may be found. The condition is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated symptoms.

MalaCards based summary : Ehlers-Danlos Syndrome, Classic Type, also known as ehlers-danlos syndrome, classical type, is related to ehlers-danlos syndrome, classic type, 2 and ehlers-danlos syndrome, classic type, 1. An important gene associated with Ehlers-Danlos Syndrome, Classic Type is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include skin and tongue, and related phenotypes are inguinal hernia and abnormality of the renal tubule

GeneReviews: NBK1244

Related Diseases for Ehlers-Danlos Syndrome, Classic Type

Diseases in the Ehlers-Danlos Syndrome, Classic-Like family:

Ehlers-Danlos Syndrome, Classic Type, 1 Ehlers-Danlos Syndrome, Classic Type, 2
Ehlers-Danlos Syndrome, Classic-Like, 2 Ehlers-Danlos Syndrome, Classic Type

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 2 33.3 COL1A1 COL5A1 COL5A2
2 ehlers-danlos syndrome, classic type, 1 33.0 COL1A1 COL1A2 COL5A1 COL5A2
3 ehlers-danlos syndrome 29.9 COL1A1 COL1A2 COL5A1 COL5A2
4 hypermobility syndrome 10.5 COL5A1 COL5A2
5 caspase 8 deficiency 10.4 COL5A1 COL5A2
6 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A1 COL1A2
7 high bone mass osteogenesis imperfecta 10.2 COL1A1 COL1A2
8 osteogenesis imperfecta, type viii 10.2 COL1A1 COL1A2
9 osteogenesis imperfecta, type vii 10.2 COL1A1 COL1A2
10 scleroderma, familial progressive 10.2 COL1A1 COL1A2
11 caffey disease 10.2 COL1A1 COL1A2
12 osteogenesis imperfecta, type v 10.2 COL1A1 COL1A2
13 osteogenesis imperfecta, type iv 10.1 COL1A1 COL1A2
14 dentinogenesis imperfecta 10.1 COL1A1 COL1A2
15 spondyloepiphyseal dysplasia congenita 10.1 COL1A1 COL1A2
16 bruck syndrome 10.1 COL1A1 COL1A2
17 von willebrand disease, type 1 10.0
18 von willebrand's disease 10.0
19 osteogenesis imperfecta, type ii 10.0 COL1A1 COL1A2
20 pelvic organ prolapse 10.0 COL1A1 MYH11
21 bone development disease 10.0 COL1A1 COL1A2
22 osteogenesis imperfecta, type iii 10.0 COL1A1 COL1A2
23 brittle bone disorder 9.9 COL1A1 COL1A2
24 marfan syndrome 9.9 COL1A2 COL5A2
25 loeys-dietz syndrome 9.9 COL5A2 MYH11
26 larsen-like syndrome 9.8 COL1A1 COL1A2 COL5A2
27 connective tissue disease 9.8 COL1A1 COL1A2 COL5A1
28 osteogenesis imperfecta, type i 9.5 COL1A1 COL1A2 COL1A2-AS1
29 otosclerosis 9.5 COL1A1 COL1A2
30 collagen disease 9.4 COL1A1 COL1A2 COL5A1 COL5A2

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Classic Type:



Diseases related to Ehlers-Danlos Syndrome, Classic Type

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Classic Type

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

32 (show top 50) (show all 72)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 occasional (7.5%) HP:0000023
2 abnormality of the renal tubule 32 occasional (7.5%) HP:0000091
3 abnormality of the tongue 32 hallmark (90%) HP:0000157
4 abnormality of the gingiva 32 hallmark (90%) HP:0000168
5 narrow face 32 frequent (33%) HP:0000275
6 epicanthus 32 occasional (7.5%) HP:0000286
7 triangular face 32 hallmark (90%) HP:0000325
8 wide nasal bridge 32 occasional (7.5%) HP:0000431
9 microcornea 32 occasional (7.5%) HP:0000482
10 glaucoma 32 hallmark (90%) HP:0000501
11 retinal detachment 32 occasional (7.5%) HP:0000541
12 myopia 32 occasional (7.5%) HP:0000545
13 blue sclerae 32 occasional (7.5%) HP:0000592
14 dental malocclusion 32 occasional (7.5%) HP:0000689
15 microdontia 32 occasional (7.5%) HP:0000691
16 pectus carinatum 32 hallmark (90%) HP:0000768
17 hypertension 32 hallmark (90%) HP:0000822
18 thin skin 32 frequent (33%) HP:0000963
19 eczema 32 hallmark (90%) HP:0000964
20 petechiae 32 hallmark (90%) HP:0000967
21 hyperextensible skin 32 hallmark (90%) HP:0000974
22 bruising susceptibility 32 frequent (33%) HP:0000978
23 atypical scarring of skin 32 hallmark (90%) HP:0000987
24 urticaria 32 occasional (7.5%) HP:0001025
25 acrocyanosis 32 frequent (33%) HP:0001063
26 striae distensae 32 hallmark (90%) HP:0001065
27 ectopia lentis 32 occasional (7.5%) HP:0001083
28 keratoglobus 32 occasional (7.5%) HP:0001119
29 corneal dystrophy 32 occasional (7.5%) HP:0001131
30 arachnodactyly 32 hallmark (90%) HP:0001166
31 muscular hypotonia 32 occasional (7.5%) HP:0001252
32 muscle weakness 32 frequent (33%) HP:0001324
33 joint dislocation 32 frequent (33%) HP:0001373
34 umbilical hernia 32 frequent (33%) HP:0001537
35 premature birth 32 frequent (33%) HP:0001622
36 atrial septal defect 32 occasional (7.5%) HP:0001631
37 mitral valve prolapse 32 frequent (33%) HP:0001634
38 tricuspid valve prolapse 32 frequent (33%) HP:0001704
39 pes planus 32 occasional (7.5%) HP:0001763
40 hiatus hernia 32 frequent (33%) HP:0002036
41 migraine 32 occasional (7.5%) HP:0002076
42 emphysema 32 hallmark (90%) HP:0002097
43 asthma 32 hallmark (90%) HP:0002099
44 pneumothorax 32 occasional (7.5%) HP:0002107
45 hypotension 32 hallmark (90%) HP:0002615
46 scoliosis 32 frequent (33%) HP:0002650
47 high, narrow palate 32 hallmark (90%) HP:0002705
48 osteoarthritis 32 occasional (7.5%) HP:0002758
49 kyphosis 32 occasional (7.5%) HP:0002808
50 spina bifida occulta 32 hallmark (90%) HP:0003298

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Classic Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 MED12 MYH11 COL1A1 COL1A2 COL5A1 COL5A2
2 growth/size/body region MP:0005378 9.63 COL5A2 MED12 MYH11 COL1A1 COL1A2 COL5A1
3 integument MP:0010771 9.35 COL5A2 MYH11 COL1A1 COL1A2 COL5A1
4 normal MP:0002873 9.02 COL5A2 MED12 COL1A1 COL1A2 COL5A1

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Classic Type

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

Genetic Tests for Ehlers-Danlos Syndrome, Classic Type

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

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Classic Type 29 COL1A1 COL5A1 COL5A2

Anatomical Context for Ehlers-Danlos Syndrome, Classic Type

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

41
Skin, Tongue

Publications for Ehlers-Danlos Syndrome, Classic Type

Articles related to Ehlers-Danlos Syndrome, Classic Type:

# Title Authors Year
1
Ehlers-Danlos syndrome, classical type. ( 28192633 )
2017
2
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. ( 27292226 )
2016
3
Ehlers-Danlos syndrome (classic type): report of a case presenting with an unusual dental anomaly. ( 21968044 )
2011
4
Response to clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. ( 21217464 )
2011
5
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. ( 20847697 )
2010
6
Picture of the month. Ehlers-Danlos syndrome, classical type. ( 16818835 )
2006
7
Ehlers-Danlos syndrome, classical type: case management. ( 15624708 )
2004
8
Ehlers-Danlos Syndrome, classical type: case management. ( 14743836 )
2003
9
Ehlers-Danlos Syndrome, Classic Type ( 20301422 )
1993

Variations for Ehlers-Danlos Syndrome, Classic Type

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

6
(show top 50) (show all 1206)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL5A1 NM_000093.4(COL5A1): c.3906+3G> T single nucleotide variant Pathogenic rs786200922 GRCh37 Chromosome 9, 137705885: 137705885
2 COL5A1 NM_000093.4(COL5A1): c.3906+3G> T single nucleotide variant Pathogenic rs786200922 GRCh38 Chromosome 9, 134814039: 134814039
3 COL5A1 NM_000093.4(COL5A1): c.5370+3_5370+6delGAGT deletion Pathogenic rs786200923 GRCh37 Chromosome 9, 137727053: 137727056
4 COL5A1 NM_000093.4(COL5A1): c.5370+3_5370+6delGAGT deletion Pathogenic rs786200923 GRCh38 Chromosome 9, 134835207: 134835210
5 COL5A1 NM_000093.4(COL5A1): c.4916G> C (p.Cys1639Ser) single nucleotide variant Pathogenic rs80338764 GRCh37 Chromosome 9, 137716663: 137716663
6 COL5A1 NM_000093.4(COL5A1): c.4916G> C (p.Cys1639Ser) single nucleotide variant Pathogenic rs80338764 GRCh38 Chromosome 9, 134824817: 134824817
7 COL5A1 NM_000093.4(COL5A1): c.3259_3366del (p.Ser1088_Gly1123del) deletion Pathogenic
8 COL5A1 NM_000093.4(COL5A1): c.5137-11T> A single nucleotide variant Pathogenic rs183495554 GRCh38 Chromosome 9, 134834960: 134834960
9 COL5A1 NM_000093.4(COL5A1): c.5137-11T> A single nucleotide variant Pathogenic rs183495554 GRCh37 Chromosome 9, 137726806: 137726806
10 COL5A1 NM_000093.4(COL5A1): c.2701-25T> G single nucleotide variant Pathogenic rs765079080 GRCh38 Chromosome 9, 134795057: 134795057
11 COL5A1 NM_000093.4(COL5A1): c.2701-25T> G single nucleotide variant Pathogenic rs765079080 GRCh37 Chromosome 9, 137686903: 137686903
12 COL5A1 NM_000093.4(COL5A1): c.4466G> A (p.Gly1489Glu) single nucleotide variant Pathogenic rs121912932 GRCh37 Chromosome 9, 137711981: 137711981
13 COL5A1 NM_000093.4(COL5A1): c.4466G> A (p.Gly1489Glu) single nucleotide variant Pathogenic rs121912932 GRCh38 Chromosome 9, 134820135: 134820135
14 COL5A1 NM_000093.4(COL5A1): c.3752delC (p.Pro1251Argfs) deletion Pathogenic rs786205100 GRCh37 Chromosome 9, 137704458: 137704458
15 COL5A1 NM_000093.4(COL5A1): c.3752delC (p.Pro1251Argfs) deletion Pathogenic rs786205100 GRCh38 Chromosome 9, 134812612: 134812612
16 COL5A1 NM_000093.4(COL5A1): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121912933 GRCh37 Chromosome 9, 137666747: 137666747
17 COL5A1 NM_000093.4(COL5A1): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121912933 GRCh38 Chromosome 9, 134774901: 134774901
18 COL5A1 NM_000093.4(COL5A1): c.655-2A> G single nucleotide variant Pathogenic rs786205101 GRCh37 Chromosome 9, 137619110: 137619110
19 COL5A1 NM_000093.4(COL5A1): c.655-2A> G single nucleotide variant Pathogenic rs786205101 GRCh38 Chromosome 9, 134727264: 134727264
20 COL5A1 NM_000093.4(COL5A1): c.4339-1delG deletion Pathogenic rs786205102 GRCh37 Chromosome 9, 137710693: 137710693
21 COL5A1 NM_000093.4(COL5A1): c.4339-1delG deletion Pathogenic rs786205102 GRCh38 Chromosome 9, 134818847: 134818847
22 COL5A2 NM_000393.4(COL5A2): c.1924-2_1928delAGGGAGC deletion Pathogenic rs786205103 GRCh37 Chromosome 2, 189927640: 189927646
23 COL5A2 NM_000393.4(COL5A2): c.1924-2_1928delAGGGAGC deletion Pathogenic rs786205103 GRCh38 Chromosome 2, 189062914: 189062920
24 COL5A2 NM_000393.4(COL5A2): c.2031+1G> T single nucleotide variant Pathogenic rs786205104 GRCh37 Chromosome 2, 189926287: 189926287
25 COL5A2 NM_000393.4(COL5A2): c.2031+1G> T single nucleotide variant Pathogenic rs786205104 GRCh38 Chromosome 2, 189061561: 189061561
26 COL5A2 NM_000393.4(COL5A2): c.3445G> C (p.Gly1149Arg) single nucleotide variant Pathogenic rs121912930 GRCh37 Chromosome 2, 189907903: 189907903
27 COL5A2 NM_000393.4(COL5A2): c.3445G> C (p.Gly1149Arg) single nucleotide variant Pathogenic rs121912930 GRCh38 Chromosome 2, 189043177: 189043177
28 COL1A2 NM_000089.3(COL1A2): c.279+2T> C single nucleotide variant Pathogenic rs72656357 GRCh37 Chromosome 7, 94030934: 94030934
29 COL1A2 NM_000089.3(COL1A2): c.279+2T> C single nucleotide variant Pathogenic rs72656357 GRCh38 Chromosome 7, 94401622: 94401622
30 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
31 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh38 Chromosome 17, 50196337: 50196337
32 COL5A1 NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter) single nucleotide variant Pathogenic rs387906606 GRCh37 Chromosome 9, 137696890: 137696890
33 COL5A1 NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter) single nucleotide variant Pathogenic rs387906606 GRCh38 Chromosome 9, 134805044: 134805044
34 COL1A2 NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser) single nucleotide variant Pathogenic rs72656387 GRCh37 Chromosome 7, 94038679: 94038679
35 COL1A2 NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser) single nucleotide variant Pathogenic rs72656387 GRCh38 Chromosome 7, 94409367: 94409367
36 COL5A2 NM_000393.4(COL5A2): c.1976C> T (p.Pro659Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145404046 GRCh37 Chromosome 2, 189927592: 189927592
37 COL5A2 NM_000393.4(COL5A2): c.1976C> T (p.Pro659Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145404046 GRCh38 Chromosome 2, 189062866: 189062866
38 COL5A2 NM_000393.4(COL5A2): c.3471+8A> T single nucleotide variant Conflicting interpretations of pathogenicity rs367643805 GRCh37 Chromosome 2, 189907869: 189907869
39 COL5A2 NM_000393.4(COL5A2): c.3471+8A> T single nucleotide variant Conflicting interpretations of pathogenicity rs367643805 GRCh38 Chromosome 2, 189043143: 189043143
40 COL5A2 NM_000393.4(COL5A2): c.2011C> T (p.Pro671Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs139189200 GRCh37 Chromosome 2, 189926308: 189926308
41 COL5A2 NM_000393.4(COL5A2): c.2011C> T (p.Pro671Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs139189200 GRCh38 Chromosome 2, 189061582: 189061582
42 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Uncertain significance rs150147262 GRCh38 Chromosome 9, 134701193: 134701193
43 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Uncertain significance rs150147262 GRCh37 Chromosome 9, 137593039: 137593039
44 COL5A1 NM_000093.4(COL5A1): c.5350G> A (p.Ala1784Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143859495 GRCh38 Chromosome 9, 134835184: 134835184
45 COL5A1 NM_000093.4(COL5A1): c.5350G> A (p.Ala1784Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143859495 GRCh37 Chromosome 9, 137727030: 137727030
46 COL5A1 NM_000093.4(COL5A1): c.1663-1G> C single nucleotide variant Pathogenic rs794727114 GRCh37 Chromosome 9, 137644434: 137644434
47 COL5A1 NM_000093.4(COL5A1): c.1663-1G> C single nucleotide variant Pathogenic rs794727114 GRCh38 Chromosome 9, 134752588: 134752588
48 COL1A2 NM_000089.3(COL1A2): c.880G> A (p.Val294Ile) single nucleotide variant Uncertain significance rs145693444 GRCh37 Chromosome 7, 94038721: 94038721
49 COL1A2 NM_000089.3(COL1A2): c.880G> A (p.Val294Ile) single nucleotide variant Uncertain significance rs145693444 GRCh38 Chromosome 7, 94409409: 94409409
50 COL5A1 NM_000093.4(COL5A1): c.1896C> T (p.Phe632=) single nucleotide variant Conflicting interpretations of pathogenicity rs376478864 GRCh37 Chromosome 9, 137650103: 137650103

Expression for Ehlers-Danlos Syndrome, Classic Type

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

Pathways for Ehlers-Danlos Syndrome, Classic Type

Pathways related to Ehlers-Danlos Syndrome, Classic Type according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 COL1A1 COL1A2 COL5A1 COL5A2 MYH11
2
Show member pathways
12.62 COL1A1 COL1A2 COL5A1 COL5A2
3
Show member pathways
12.32 COL1A1 COL1A2 COL5A1 COL5A2
4
Show member pathways
12.27 COL1A1 COL1A2 MYH11
5
Show member pathways
12.18 COL1A1 COL1A2 COL5A1 COL5A2
6
Show member pathways
11.91 COL1A1 COL1A2 COL5A1 COL5A2
7 11.53 COL1A1 COL1A2
8 11.32 COL1A1 COL1A2
9 11.3 COL1A1 COL1A2
10 11.2 COL1A1 COL1A2
11 11.08 COL1A1 COL1A2
12 11.05 COL1A1 COL1A2
13 10.92 COL1A1 COL1A2
14 10.68 COL1A1 COL1A2
15 10.43 COL1A2 COL5A1 COL5A2

GO Terms for Ehlers-Danlos Syndrome, Classic Type

Cellular components related to Ehlers-Danlos Syndrome, Classic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.62 COL1A1 COL1A2 COL5A1 COL5A2
2 extracellular matrix GO:0031012 9.56 COL1A1 COL1A2 COL5A1 COL5A2
3 collagen type V trimer GO:0005588 9.16 COL5A1 COL5A2
4 collagen type I trimer GO:0005584 8.96 COL1A1 COL1A2
5 collagen trimer GO:0005581 8.92 COL1A1 COL1A2 COL5A1 COL5A2

Biological processes related to Ehlers-Danlos Syndrome, Classic Type according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.69 COL1A1 COL1A2 COL5A2
2 blood vessel development GO:0001568 9.61 COL1A1 COL1A2 COL5A1
3 cellular response to amino acid stimulus GO:0071230 9.58 COL1A1 COL1A2 COL5A2
4 extracellular matrix organization GO:0030198 9.56 COL1A1 COL1A2 COL5A1 COL5A2
5 ossification GO:0001503 9.52 COL1A1 COL5A2
6 skin development GO:0043588 9.5 COL1A1 COL5A1 COL5A2
7 protein heterotrimerization GO:0070208 9.49 COL1A1 COL1A2
8 skin morphogenesis GO:0043589 9.48 COL1A1 COL1A2
9 collagen biosynthetic process GO:0032964 9.46 COL1A1 COL5A1
10 eye morphogenesis GO:0048592 9.37 COL5A1 COL5A2
11 collagen catabolic process GO:0030574 9.26 COL1A1 COL1A2 COL5A1 COL5A2
12 negative regulation of endodermal cell differentiation GO:1903225 9.16 COL5A1 COL5A2
13 collagen fibril organization GO:0030199 8.92 COL1A1 COL1A2 COL5A1 COL5A2

Molecular functions related to Ehlers-Danlos Syndrome, Classic Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.16 COL1A2 COL5A2
2 platelet-derived growth factor binding GO:0048407 9.13 COL1A1 COL1A2 COL5A1
3 extracellular matrix structural constituent GO:0005201 8.92 COL1A1 COL1A2 COL5A1 COL5A2

Sources for Ehlers-Danlos Syndrome, Classic Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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