EDS
MCID: EHL001
MIFTS: 61

Ehlers-Danlos Syndrome (EDS) malady

Skin diseases category

Summaries for Ehlers-Danlos Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Ehlers-danlos syndrome (eds) is a group of disorders that affect connective tissue, which supports the skin, bones, tendons, ligaments, blood vessels, and other organs. the signs and symptoms of eds vary by type and range from mildly loose joints to life-threatening complications. an unusually large range of joint movement (hypermobility) occurs with most forms, particularly the hypermobility type. many people with eds also have soft, velvety skin that is highly elastic and fragile. affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. some forms of eds, notably the vascular type and kyphoscoliosis type, can involve serious and potentially life-threatening complications. eds may be caused by mutations in any one of several genes; the inheritance pattern varies by type. last updated: 3/2/2012

MalaCards: Ehlers-Danlos Syndrome, also known as ehlers danlos syndrome, is related to ehlers-danlos syndrome, hypermobility type and hypermobility syndrome. An important gene associated with Ehlers-Danlos Syndrome is COL3A1 (collagen, type III, alpha 1), and among its related pathways are Crosslinking of collagen fibrils and Anchoring fibril formation. The compounds Collagenase and nppa have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and colon, and related mouse phenotypes are muscle and integument.

Disease Ontology:8 A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. eds has five cardinal signs, which may be present to some degree in all of the subtypes. these five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.

Genetics Home Reference:21 Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.

MedlinePlus:33 Ehlers-danlos syndrome (eds) is a group of inherited disorders that weaken connective tissues. connective tissues are proteins that support skin, bones, blood vessels, and other organs. eds usually affects your skin, joints and blood vessel walls. symptoms include loose joints fragile, small blood vessels abnormal scar formation and wound healing soft, velvety, stretchy skin that bruises easily there are several types of eds. they can range from mild to life-threatening. about 1 in 5,000 people has eds. there is no cure. treatment involves managing symptoms, often with medicines and physical therapy. it also includes learning how to protect your joints and prevent injuries.

Wikipedia:63 Ehlers–Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations... more...

Description from OMIM:46 225400,130070

Aliases & Classifications for Ehlers-Danlos Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 22GTR, 39NCIt, 27ICD9CM, 46OMIM, 56SNOMED-CT, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Aliases & Descriptions:

ehlers-danlos syndrome 8 42 21 10 44 33 60
ehlers danlos syndrome 42 22
elastic skin 8 44
eds 42 21
ehlers danlos disease 21
cutis hyperelastica 8
ed syndrome 42


External Ids:

Disease Ontology8 DOID:13359
NCIt39 C34568
ICD9CM27 756.83
MeSH34 D004535

Related Diseases for Ehlers-Danlos Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Ehlers-Danlos Syndrome Type Iv family:

Type Iii Ehlers-Danlos Syndrome Type Vi Ehlers-Danlos Syndrome
Type I Ehlers-Danlos Syndrome ehlers-danlos syndrome
Ehlers-Danlos Syndrome Type 5 Ehlers-Danlos Syndrome, Type Vii
Ehlers-Danlos Syndrome Type Via Ehlers-Danlos Syndrome Type Viib
Ehlers-Danlos Syndrome, Type Viii

Diseases related to Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 287)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, hypermobility type31.6TNXB, COL3A1
2hypermobility syndrome31.5TNXB
3ehlers-danlos syndrome, classic type31.4COL5A1, COL1A1
4ehlers-danlos syndrome kyphoscoliotic type31.0PLOD1, PLOD2
5osteogenesis imperfecta30.8PLOD2, COL1A2, COL1A1, DSPP, CD36, COL3A1
6osteogenesis imperfecta type i30.6COL1A2, COL1A1
7connective tissue disease30.6COL5A1, COL1A1, COL3A1, TNXB, DSPP, CD36
8otosclerosis30.4COL1A2, COL1A1, CD36
9osteoporosis30.2CD36, COL1A1, COL1A2, PLOD1
10idiopathic juvenile osteoporosis30.2COL1A2, CD36
11nail-patella syndrome30.2COL5A1
12ullrich congenital muscular dystrophy30.2PLOD3, FKBP14
13collagen disease30.2COL1A1, CD36
14osteoarthritis30.2COL1A2, COL1A1, DSPP, CD36
15dentinogenesis imperfecta29.7DSPP, COL1A1, CD36, COL1A2
16ehlers-danlos syndrome type iv11.3
17type iii ehlers-danlos syndrome11.1
18type vi ehlers-danlos syndrome11.0
19type i ehlers-danlos syndrome11.0
20ehlers-danlos syndrome type viib10.7
21ehlers-danlos syndrome progeroid type10.7
22ehlers-danlos syndrome dermatosparaxis type10.7
23ehlers-danlos syndrome, musculocontractural type 210.7
24ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
25ehlers-danlos syndrome arthrochalasia type10.6
26ehlers-danlos syndrome, kyphoscoliotic form10.6
27ehlers-danlos syndrome, periodontitis type10.6
28ehlers-danlos syndrome, fibronectinemic type10.6
29n syndrome10.6
30aortic aneurysm10.6
31spondylocheirodysplasia, ehlers-danlos syndrome-like10.6
32ehlers-danlos syndrome, musculocontractural type 110.6
33ehlers-danlos syndrome dysfibronectinemic type10.5
34ehlers-danlos syndrome, progeroid type, 110.5
35ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency10.5
36x-linked ehlers-danlos syndrome10.5
37cervicitis10.5
38neuropathy10.5
39periodontitis10.5
40joint laxity, familial10.5
41occipital horn syndrome10.5
42cutis laxa10.5
43autosomal recessive type iv ehlers-danlos syndrome10.5
44myocardial infarction10.5
45myopathy10.5
46ehlers-danlos syndrome type 510.5
47ehlers-danlos syndrome, cardiac valvular form10.5
48autosomal dominant type iv ehlers-danlos syndrome10.4
49intracranial aneurysm10.4
50adult syndrome10.4

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



Diseases related to ehlers-danlos syndrome

Clinical Features for Ehlers-Danlos Syndrome

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46OMIM
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Clinical features from OMIM:

225400,130070

Drugs & Therapeutics for Ehlers-Danlos Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Ehlers-Danlos Syndrome

Drug clinical trials:

Search ClinicalTrials for Ehlers-Danlos Syndrome

Search NIH Clinical Center for Ehlers-Danlos Syndrome

Search CenterWatch for Ehlers-Danlos Syndrome

Genetic Tests for Ehlers-Danlos Syndrome

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22GTR
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Genetic tests related to Ehlers-Danlos Syndrome:

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome22

Anatomical Context for Ehlers-Danlos Syndrome

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32MalaCards
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MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

32
Skin, Bone, Colon, Lung, Liver, Breast, Small intestine, Spleen, Testes, Tongue, Pancreas, Eye, Kidney, Brain, Trachea

Animal Models for Ehlers-Danlos Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.1COL5A3, COL1A1, COL3A1, CD36, PLOD1, PLOD3
2MP:00107719.5ADAMTS2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1

Publications for Ehlers-Danlos Syndrome

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50PubMed
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Articles related to Ehlers-Danlos Syndrome:

(show top 50)    (show all 742)
idTitleAuthorsYear
1
Ehlers-Danlos syndrome: A showcase of conditions that lead to understanding matrix biology. (23920413)
2013
2
Ehlers-Danlos syndrome hypermobility type: a possible unifying concept for various functional somatic syndromes. (22193218)
2013
3
Multidisciplinary treatment of disability in ehlers-danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women. (23913726)
2013
4
Double-barrel extracranial-intracranial bypass surgery followed by endovascular carotid artery occlusion in a patient with an extracranial giant internal carotid artery aneurysm due to Ehlers-Danlos syndrome. (22993245)
2013
5
Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report. (22787447)
2012
6
Spontaneous hemo-pneumothorax in a patient with Ehlers-Danlos syndrome. (22610159)
2012
7
Ehlers-Danlos syndrome: case report and an electron microscopy study. (21305297)
2012
8
Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII. (22419391)
2012
9
Vascular-type Ehlers-Danlos syndrome presenting as recurrent compartment syndrome. (21982893)
2011
10
Fatigue is associated with muscle weakness in Ehlers-Danlos syndrome: an explorative study. (21497252)
2011
11
Response to clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. (21217464)
2011
12
Balance, gait, falls, and fear of falling in women with the hypermobility type of Ehlers-Danlos syndrome. (21793229)
2011
13
Contemporary management of vascular complications associated with Ehlers-Danlos syndrome. (19879095)
2010
14
Absence of inferior labial and lingual frenula in Ehlers-Danlos syndrome: a minor diagnostic criterion in French patients. (20143893)
2010
15
Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type). (19937459)
2010
16
Vascular Ehlers-Danlos syndrome]. (19462862)
2009
17
Ehlers-Danlos syndrome and multiple sclerosis: a possible association. (18208891)
2008
18
Isolated giant aortic aneurysm in an infant: Ehlers-Danlos syndrome type IV. (18640345)
2008
19
Ehlers-Danlos syndrome (EDS) type IV: review of the literature. (17221206)
2007
20
Ehlers-Danlos syndrome: insights on obstetric aspects. (17176488)
2007
21
Coeliac axis thrombosis after surgical correction of spinal deformity in type VI Ehlers-Danlos syndrome: a case report and review of the literature. (17700434)
2007
22
Endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome. (17664111)
2007
23
Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. (16492673)
2006
24
Spontaneous liver rupture in Ehlers-Danlos syndrome type IV. (15994597)
2005
25
Death due to Ehlers-Danlos syndrome type IV. (15725781)
2005
26
Survival after spontaneous aortic rupture in a patient with Ehlers-Danlos syndrome. (16125960)
2005
27
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. (14679583)
2004
28
Increased carotid wall stress in vascular Ehlers-Danlos syndrome. (15007000)
2004
29
Total knee arthroplasty in Ehlers-Danlos syndrome. (14973862)
2004
30
Ehlers-Danlos syndrome in a dog. (15144116)
2004
31
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. (12694234)
2003
32
Mendelian arterial diseases. Pseudoxanthoma elasticum, Ehlers-Danlos vascular syndrome, Rendu-Osler disease]. (14694786)
2003
33
Clinical and genetic features of vascular Ehlers-Danlos syndrome. (12016538)
2002
34
Intracranial aneurysm surgery in Ehlers-Danlos syndrome Type IV. (12188938)
2002
35
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. (11642233)
2001
36
Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer. (11532373)
2001
37
An intrathoracic wandering spleen in a patient with Ehlers-Danlos syndrome and diaphragmatic hernia. (10983773)
2000
38
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. (9295084)
1997
39
Retinal detachment in Ehlers-Danlos syndrome. Treatment by pars plana vitrectomy]. (9410229)
1997
40
Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV. (8680408)
1995
41
A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637-to-serine substitution in type III collagen. (7833919)
1994
42
Ehlers-Danlos Syndrome, Kyphoscoliotic Form (20301635)
1993
43
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV. (1619632)
1992
44
Anaesthesia for caesarean section in a patient with Ehlers-Danlos syndrome type IV. (1467085)
1992
45
Spontaneous gluteal artery rupture resulting in compartment syndrome and sciatic neuropathy. Report of a case in Ehlers-Danlos syndrome. (1735223)
1992
46
Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family. (1684560)
1991
47
The effects of age, vessel size, and Ehlers-Danlos type IV syndrome on the waviness index of arteries. (2354573)
1990
48
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. (2145268)
1990
49
A disease with features of cutis laxa and Ehlers-Danlos syndrome. Report of a mother and daughter. (3338795)
1988
50
Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child. (6477831)
1984

Genetic Variations for Ehlers-Danlos Syndrome

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Expression for genes affiliated with Ehlers-Danlos Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ehlers-Danlos Syndrome

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

Pathways for genes affiliated with Ehlers-Danlos Syndrome

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 49PharmGKB, 51QIAGEN
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Pathways related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4COL1A1, COL1A2
210.4COL1A1, COL1A2
310.4COL1A1, COL1A2
410.4COL1A1, COL1A2
510.4COL1A1, COL1A2
610.3COL3A1, COL1A1, COL1A2
710.3COL1A2, COL1A1, COL3A1
8
Cell adhesion ECM remodeling
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10.3COL1A2, COL1A1, COL3A1
910.3PLOD3, PLOD1, PLOD2
10
Hide members
10.3COL1A2, COL5A1, COL5A3
1110.3COL5A2, COL5A3, COL5A1
12
Hide members
10.3COL5A1, COL5A3, COL5A2
1310.3COL1A2, COL1A1, COL3A1, CD36
1410.3CD36, COL3A1, COL1A1, COL1A2
15
Hide members
10.2COL3A1, COL5A2, COL5A3, COL5A1
16
Hide members
10.2COL5A1, COL5A3, COL5A2, COL3A1
17
Hide members
10.2COL5A2, COL1A1, COL3A1, TNXB, CD36
18
Hide members
10.2CD36, COL3A1, COL5A2, COL5A3, COL5A1
1910.1COL1A2, COL5A1, COL5A3, COL5A2, COL1A1, COL3A1
2010.1COL1A2, COL5A1, COL5A3, COL5A2, COL1A1, COL3A1
21
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10.1COL1A2, COL5A1, COL5A3, COL5A2, COL1A1, COL3A1
22
Hide members
10.1COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
23
Hide members
10.1COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
24
Hide members
10.1COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
25
Hide members
10.0COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
26
Hide members
9.8PLOD3, COL8A2, COL1A2, COL5A1, COL5A3, COL5A2

Compounds for genes affiliated with Ehlers-Danlos Syndrome

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11DrugBank, 44Novoseek, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 24HMDB
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Compounds related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1Collagenase1110.7COL3A1, COL1A1, COL1A2
2nppa4410.7COL3A1, COL1A1, COL1A2
3nppb44 59 2812.7COL1A2, COL1A1, COL3A1
4hydroxylysinonorleucine4410.6PLOD1, PLOD2
5carbodiimide4410.6COL1A1, COL1A2
6vitamin c49 1111.6PLOD3, PLOD1, PLOD2
7hydroxylysine4410.6COL1A1, PLOD1
8l-lysine28 11 2412.6PLOD3, PLOD1, PLOD2
9pyridinoline4410.6CD36, PLOD2, PLOD1, PLOD3
10succinic acid28 11 2412.6PLOD2, PLOD1, PLOD3
11silver nitrate4410.5CD36, DSPP
12calcium carbonate4410.5CD36, DSPP
13procollagen4410.5ADAMTS2, PLOD1, CD36, COL3A1, COL1A1, COL1A2
14aspartate4410.5PLOD1, DSPP, COL3A1, COL1A1, COL1A2
15ascorbic acid44 2411.4DSPP, CD36, PLOD2, PLOD1, PLOD3
16carbon dioxide44 2411.4PLOD3, PLOD1, PLOD2
17tannins4410.4CD36, DSPP
18vitamin d4410.4COL1A2, COL1A1, DSPP, CD36
19xbai4410.4COL1A1, COL1A2
20glycosaminoglycan4410.3COL1A1, B4GALT7, CD36
21tartrate4410.2CD36, DSPP
22polyglycolic acid4410.0CD36, DSPP

GO Terms for genes affiliated with Ehlers-Danlos Syndrome

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16Gene Ontology
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Cellular components related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VGO:00558810.4COL5A1, COL5A3, COL5A2
2rough endoplasmic reticulum membraneGO:03086710.3PLOD3, PLOD1, PLOD2
3collagen type IGO:00558410.3COL1A2, COL1A1
4proteinaceous extracellular matrixGO:00557810.2ADAMTS2, DSPP, TNXB, COL8A2
5extracellular matrixGO:03101210.2COL8A2, COL1A2, COL5A1, COL5A2, COL1A1, COL3A1
6endoplasmic reticulum lumenGO:00578810.1FKBP14, COL8A2, COL1A2, COL5A1, COL5A3, COL5A2
7extracellular regionGO:0055769.7COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1

Biological processes related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1collagen biosynthetic processGO:03296410.6COL3A1, COL1A1, COL5A1
2extracellular fibril organizationGO:04320610.5COL5A1, COL3A1, TNXB, B4GALT7
3cellular response to amino acid stimulusGO:07123010.5COL1A2, COL5A2, COL1A1, COL3A1
4eye morphogenesisGO:04859210.5COL5A2, COL5A1
5blood vessel developmentGO:00156810.5COL1A2, COL5A1, COL1A1, COL3A1
6skin developmentGO:04358810.4COL5A1, COL5A3, COL5A2, COL3A1, ADAMTS2
7skin morphogenesisGO:04358910.4COL1A1, COL1A2
8cellular protein modification processGO:00646410.4B4GALT7, PLOD2, PLOD1, PLOD3
9skeletal system developmentGO:00150110.4DSPP, COL3A1, COL1A1, COL5A2, COL1A2
10extracellular matrix disassemblyGO:02261710.3COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
11collagen catabolic processGO:03057410.3COL8A2, COL1A2, COL5A1, COL5A3, COL5A2, COL1A1
12platelet activationGO:03016810.3COL1A2, COL1A1, COL3A1, CD36
13collagen fibril organizationGO:03019910.3PLOD3, TNXB, COL3A1, COL1A1, COL5A2, COL5A3
14axon guidanceGO:00741110.2COL3A1, COL5A2, COL5A3, COL5A1
15cell-matrix adhesionGO:00716010.2TNXB, COL3A1, COL5A3
16extracellular matrix organizationGO:03019810.1ADAMTS2, COL8A2, COL1A2, PLOD3, PLOD1, PLOD2
17protein heterotrimerizationGO:07020810.1COL1A2, COL1A1

Molecular functions related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:04840710.5COL1A2, COL5A1, COL1A1, COL3A1
2procollagen-lysine 5-dioxygenase activityGO:00847510.5PLOD3, PLOD1, PLOD2
3L-ascorbic acid bindingGO:03141810.4PLOD3, PLOD1, PLOD2
4SMAD bindingGO:04633210.4COL1A2, COL5A2, COL3A1
5proteoglycan bindingGO:04339410.3COL5A1, COL5A3
6collagen bindingGO:00551810.3DSPP, TNXB, COL5A3
7integrin bindingGO:00517810.2TNXB, COL3A1, COL5A1
8extracellular matrix structural constituentGO:00520110.2DSPP, COL8A2, COL1A2, COL5A1, COL5A3, COL5A2
9metal ion bindingGO:04687210.1ZNF469, B4GALT7, COL3A1, COL1A1, COL5A2, COL5A1
10heparin bindingGO:00820110.0COL5A1, COL5A3, TNXB

Products for genes affiliated with Ehlers-Danlos Syndrome

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Sources for Ehlers-Danlos Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet