MCID: EHL034
MIFTS: 51

Ehlers-Danlos Syndrome, Hypermobility Type

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Hypermobility Type

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

Name: Ehlers-Danlos Syndrome, Hypermobility Type 53 23 55 71
Ehlers-Danlos Syndrome, Type Iii 53 71 51
Ehlers-Danlos Syndrome, Type 3 12 28 69
Eds Iii 53 55 71
Benign Joint Hypermobility Syndrome 23 55
Benign Hypermobility Syndrome 53 71
Ehlers-Danlos Syndrome Type 3 55 41
Eds3 53 71
Ehlers-Danlos Syndrome, Hypermobile Type 55
Ehlers-Danlos Syndrome, Type Iii; Eds3 53
Type Iii Ehlers-Danlos Syndrome 12
Ehlers-Danlos Syndrome Type Iii 23
Joint Hypermobility Syndrome 23
Ehlers-Danlos Syndrome 3 71
Eds Hypermobility Type 23
Joint Hypermobility 28
Eds Type Iii 23
Edshmb 53
Ht-Eds 55
Bjhs 55

Characteristics:

Orphanet epidemiological data:

55
ehlers-danlos syndrome, hypermobility type
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
joint laxity decreases with age
one patient reported with col3a1 mutation


HPO:

31
ehlers-danlos syndrome, hypermobility type:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is believed to be 100%, although expressivity is extremely variable, and careful examination may be required to demonstrate typical features, especially in adult men who have never experienced a major joint complication or significant pain...

Classifications:



Summaries for Ehlers-Danlos Syndrome, Hypermobility Type

OMIM : 53 The Ehlers-Danlos syndrome shows phenotypic and genetic heterogeneity; see 130000. Marked joint hyperextensibility without skeletal deformity dominates the clinical picture of hypermobility-type EDS. Skin manifestations are relatively inconspicuous. Differentiation from familial joint laxity (147900) is often uncertain. (130020)

MalaCards based summary : Ehlers-Danlos Syndrome, Hypermobility Type, also known as ehlers-danlos syndrome, type iii, is related to hypermobility syndrome and ehlers-danlos syndrome, and has symptoms including arthralgia, constipation and fatigue. An important gene associated with Ehlers-Danlos Syndrome, Hypermobility Type is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. The drug alemtuzumab has been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotype is integument.

UniProtKB/Swiss-Prot : 71 Ehlers-Danlos syndrome 3: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. It is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity.

GeneReviews: NBK1279

Related Diseases for Ehlers-Danlos Syndrome, Hypermobility Type

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



Diseases related to Ehlers-Danlos Syndrome, Hypermobility Type

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Hypermobility Type

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
mitral valve prolapse

Skeletal:
joint hypermobility (large and small joints)
recurrent joint dislocations (shoulder, patella, temporomandibular joints)
osteoarthritis (onset 30-40 years)

Skin Nails Hair Skin:
hyperextensible skin
soft skin
sacral striae
no scarring


Clinical features from OMIM:

130020

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

55 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
3 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 myalgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003326
5 vertigo 55 31 hallmark (90%) Very frequent (99-80%) HP:0002321
6 nausea and vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002017
7 joint dislocation 55 31 Very frequent (99-80%) HP:0001373
8 osteoarthritis 55 31 frequent (33%) Frequent (79-30%) HP:0002758
9 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
10 sleep disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0002360
11 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
12 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
13 gingival overgrowth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000212
14 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
15 pes planus 55 31 frequent (33%) Frequent (79-30%) HP:0001763
16 malabsorption 55 31 frequent (33%) Frequent (79-30%) HP:0002024
17 gastroesophageal reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0002020
18 subcutaneous nodule 55 31 occasional (7.5%) Occasional (29-5%) HP:0001482
19 acrocyanosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001063
20 arrhythmia 55 31 frequent (33%) Frequent (79-30%) HP:0011675
21 aplasia/hypoplasia of the abdominal wall musculature 55 31 occasional (7.5%) Occasional (29-5%) HP:0010318
22 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
23 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
24 thin skin 55 31 frequent (33%) Frequent (79-30%) HP:0000963
25 limitation of joint mobility 55 31 occasional (7.5%) Occasional (29-5%) HP:0001376
26 wormian bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0002645
27 decreased nerve conduction velocity 55 31 frequent (33%) Frequent (79-30%) HP:0000762
28 microdontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000691
29 atypical scarring of skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000987
30 arterial dissection 55 31 occasional (7.5%) Occasional (29-5%) HP:0005294
31 migraine 55 31 frequent (33%) Frequent (79-30%) HP:0002076
32 apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002104
33 paresthesia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003401
34 hip dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002827
35 keratoconjunctivitis sicca 55 31 occasional (7.5%) Occasional (29-5%) HP:0001097
36 decreased fertility 55 31 occasional (7.5%) Occasional (29-5%) HP:0000144
37 elbow dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0003042
38 anorectal anomaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0012732
39 gingivitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000230
40 abnormality of the menstrual cycle 55 31 occasional (7.5%) Occasional (29-5%) HP:0000140
41 abnormality of the palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000174
42 osteolysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002797
43 venous insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0005293
44 hyperextensible skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000974
45 keratoconus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000563
46 tendon rupture 55 31 occasional (7.5%) Occasional (29-5%) HP:0100550
47 abnormality of the wrist 55 31 occasional (7.5%) Occasional (29-5%) HP:0003019
48 cystocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0100645
49 soft skin 55 31 frequent (33%) Frequent (79-30%) HP:0000977
50 gastrointestinal dysmotility 55 31 occasional (7.5%) Occasional (29-5%) HP:0002579

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 COL3A1 FBN1 PLOD1 TNXB

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Hypermobility Type

Drugs for Ehlers-Danlos Syndrome, Hypermobility Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 1 216503-57-0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Alemtuzumab in Treatment Refractory MS Subjects/Alemtuzumab Naive & Alemtuzumab Experienced Subjects Unknown status NCT01624714 Phase 1 Alemtuzumab;Alemtuzumab immunotherapy
2 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life Completed NCT01367977
3 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Recruiting NCT02854098
4 Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients Active, not recruiting NCT02761928
5 Rehabilitation in Multiple Sclerosis - Sometimes Too Much? Not yet recruiting NCT03187847

Search NIH Clinical Center for Ehlers-Danlos Syndrome, Hypermobility Type

Cochrane evidence based reviews: ehlers-danlos syndrome type 3

Genetic Tests for Ehlers-Danlos Syndrome, Hypermobility Type

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

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 3 28 COL3A1
2 Joint Hypermobility 28

Anatomical Context for Ehlers-Danlos Syndrome, Hypermobility Type

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

38
Skin, Bone, Heart

Publications for Ehlers-Danlos Syndrome, Hypermobility Type

Articles related to Ehlers-Danlos Syndrome, Hypermobility Type:

(show top 50) (show all 73)
# Title Authors Year
1
Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. ( 29357706 )
2018
2
A multimodal physical therapy approach utilizing the Maitland concept in the management of a patient with cervical and lumbar radiculitis and Ehlers-Danlos syndrome-hypermobility type: A case report. ( 29308941 )
2018
3
Cognitive impairment in women with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 28180909 )
2017
4
A magnetic resonance imaging study of gastric motor function in patients with dyspepsia associated with Ehlers-Danlos Syndrome-Hypermobility Type: A feasibility study. ( 28568908 )
2017
5
Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature. ( 28924124 )
2017
6
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 28482708 )
2017
7
Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: a review for the gastroenterologist. ( 28086259 )
2017
8
The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study. ( 27931013 )
2017
9
Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. ( 28051109 )
2017
10
A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT). ( 28866967 )
2017
11
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? ( 28286774 )
2017
12
Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 29125009 )
2017
13
Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. ( 28145611 )
2017
14
Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study). ( 28642694 )
2017
15
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 28266107 )
2017
16
Generalized Hyperalgesia in children and adults diagnosed with Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility type: A discriminative analysis. ( 27483212 )
2016
17
Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder. ( 27824552 )
2016
18
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. ( 27518164 )
2016
19
Evidence of small fiber neuropathy in a patient with Ehlers-Danlos syndrome, hypermobility-type. ( 26750577 )
2016
20
Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type. ( 26824670 )
2016
21
Peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type: a report of 2 cases. ( 26897449 )
2016
22
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26919608 )
2016
23
Peripheral nerve block in patients with Ehlers-Danlos syndrome, hypermobility type: a case series. ( 27555128 )
2016
24
Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome. ( 27273746 )
2016
25
Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 25821089 )
2015
26
The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 25649985 )
2015
27
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25655071 )
2015
28
PP-5 JOINT HYPERMOBILITY SYNDROME/EHLERS-DANLOS SYNDROME HYPERMOBILITY TYPE AND GASTROINTESTINAL SYMPTOMS. ( 26439570 )
2015
29
Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised. ( 25821094 )
2015
30
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives. ( 25654988 )
2015
31
Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. ( 25821092 )
2015
32
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family. ( 26504261 )
2015
33
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. ( 25821090 )
2015
34
Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge. ( 26316810 )
2015
35
Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among flemish physiotherapists. ( 25821093 )
2015
36
The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25821096 )
2015
37
Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26506923 )
2015
38
A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers-Danlos syndrome, hypermobility type. ( 25791889 )
2015
39
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees. ( 25338840 )
2014
40
Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 24752348 )
2014
41
Foot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing. ( 25514270 )
2014
42
Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type. ( 24504907 )
2014
43
Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 24254847 )
2013
44
Unexpected association between joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type and obsessive-compulsive personality disorder. ( 24272065 )
2013
45
Measuring regularity of human postural sway using approximate entropy and sample entropy in patients with Ehlers-Danlos syndrome hypermobility type. ( 23246558 )
2013
46
The multifaceted and complex hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome Hypermobility Type): Evaluation and management through a rehabilitative approach. ( 24045532 )
2013
47
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type. ( 23533212 )
2013
48
Use of the Gait Profile Score for the evaluation of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 24095856 )
2013
49
Joint hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome, Hypermobility Type): an updated critique. ( 23407074 )
2013
50
Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience. ( 24254846 )
2013

Variations for Ehlers-Danlos Syndrome, Hypermobility Type

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Hypermobility Type:

71
# Symbol AA change Variation ID SNP ID
1 COL3A1 p.Gly804Ser VAR_001783 rs121912920

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
2 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
3 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
4 COL3A1 NM_000090.3(COL3A1): c.4096C> T (p.Gln1366Ter) single nucleotide variant Likely pathogenic rs863224860 GRCh38 Chromosome 2, 189010732: 189010732
5 TNXB NM_019105.6(TNXB): c.6074A> T (p.Asp2025Val) single nucleotide variant Likely pathogenic rs201397168 GRCh37 Chromosome 6, 32036313: 32036313
6 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic rs542489955 GRCh37 Chromosome 7, 30058727: 30058727
7 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh38 Chromosome 1, 11965571: 11965571
8 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Pathogenic/Likely pathogenic rs876661151 GRCh38 Chromosome 12, 13608611: 13608611
9 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh37 Chromosome 15, 48826296: 48826299

Expression for Ehlers-Danlos Syndrome, Hypermobility Type

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

Pathways for Ehlers-Danlos Syndrome, Hypermobility Type

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 COL3A1 FBN1 PLOD1 TNXB
2
Show member pathways
11.33 FBN1 TNXB
3 10.59 COL3A1 TNXB

GO Terms for Ehlers-Danlos Syndrome, Hypermobility Type

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.33 COL3A1 FBN1 TNXB
2 proteinaceous extracellular matrix GO:0005578 9.13 COL3A1 FBN1 TNXB
3 endoplasmic reticulum lumen GO:0005788 8.8 COL3A1 FBN1 FKBP14

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.16 COL3A1 FBN1
2 collagen fibril organization GO:0030199 8.96 COL3A1 TNXB
3 extracellular matrix organization GO:0030198 8.8 COL3A1 FBN1 TNXB

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.16 FBN1 TNXB
2 extracellular matrix structural constituent GO:0005201 8.96 COL3A1 FBN1
3 integrin binding GO:0005178 8.8 COL3A1 FBN1 TNXB

Sources for Ehlers-Danlos Syndrome, Hypermobility Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....