EDSHMB
MCID: EHL034
MIFTS: 40

Ehlers-Danlos Syndrome, Hypermobility Type (EDSHMB)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Hypermobility Type

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

Name: Ehlers-Danlos Syndrome, Hypermobility Type 57 59 75
Ehlers-Danlos Syndrome, Type 3 12 29 6 40 73
Ehlers-Danlos Syndrome, Type Iii 57 75 55
Eds Iii 57 59 75
Benign Hypermobility Syndrome 57 75
Ehlers-Danlos Syndrome Type 3 59 44
Edshmb 57 75
Ehlers-Danlos Syndrome, Hypermobile Type 59
Ehlers-Danlos Syndrome, Type Iii; Eds3 57
Benign Joint Hypermobility Syndrome 59
Type Iii Ehlers-Danlos Syndrome 12
Ht-Eds 59
Eds3 57
Bjhs 59

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome, hypermobility type
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
ehlers-danlos syndrome, hypermobility type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Hypermobility Type

OMIM : 57 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 3, is related to hypermobile ehlers-danlos syndrome and hereditary alpha tryptasemia syndrome. An important gene associated with Ehlers-Danlos Syndrome, Hypermobility Type is TNXB (Tenascin XB). The drugs alemtuzumab and Phenylephrine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are joint dislocation and osteoarthritis

UniProtKB/Swiss-Prot : 75 Ehlers-danlos syndrome, hypermobility type: 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.

Related Diseases for Ehlers-Danlos Syndrome, Hypermobility Type

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 hypermobile ehlers-danlos syndrome 12.0
2 hereditary alpha tryptasemia syndrome 11.5
3 ehlers-danlos syndrome 11.2
4 hypermobility syndrome 11.1
5 pain - chronic 10.6
6 erythermalgia, primary 10.3
7 down syndrome 10.3
8 celiac disease 1 10.3
9 orthostatic intolerance 10.3
10 postural orthostatic tachycardia syndrome 10.3
11 obsessive-compulsive personality disorder 10.3
12 personality disorder 10.3
13 dyspepsia 10.3
14 chronic fatigue syndrome 10.3
15 neuropathy 10.3
16 hemorrhoid 10.3
17 thrombophilia due to thrombin defect 10.2
18 thrombosis 10.2
19 situs inversus 10.2
20 periodontitis 10.2
21 carpal tunnel syndrome 10.0
22 asthma 10.0
23 mononeuropathy of the median nerve, mild 10.0
24 inguinal hernia 10.0
25 classic ehlers-danlos syndrome 10.0

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:

57
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:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 Very frequent (99-80%) HP:0001373
2 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
3 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
4 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
5 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
6 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
7 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
8 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
9 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
10 gingival overgrowth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000212
11 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
12 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
13 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
14 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
15 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
16 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
17 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
18 acrocyanosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001063
19 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
20 aplasia/hypoplasia of the abdominal wall musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0010318
21 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
22 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
23 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
24 limitation of joint mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001376
25 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
26 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762
27 microdontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000691
28 atypical scarring of skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000987
29 arterial dissection 59 32 occasional (7.5%) Occasional (29-5%) HP:0005294
30 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
31 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
32 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
33 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
34 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
35 keratoconjunctivitis sicca 59 32 occasional (7.5%) Occasional (29-5%) HP:0001097
36 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
37 decreased fertility 59 32 occasional (7.5%) Occasional (29-5%) HP:0000144
38 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042
39 anorectal anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0012732
40 gingivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000230
41 abnormality of the menstrual cycle 59 32 occasional (7.5%) Occasional (29-5%) HP:0000140
42 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
43 venous insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0005293
44 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
45 keratoconus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000563
46 tendon rupture 59 32 occasional (7.5%) Occasional (29-5%) HP:0100550
47 abnormality of the wrist 59 32 occasional (7.5%) Occasional (29-5%) HP:0003019
48 cystocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0100645
49 soft skin 59 32 frequent (33%) Frequent (79-30%) HP:0000977
50 gastrointestinal dysmotility 59 32 occasional (7.5%) Occasional (29-5%) HP:0002579

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 LZTS1 TNXB

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Hypermobility Type

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 1 216503-57-0
2
Phenylephrine Approved 59-42-7 6041
3
Oxymetazoline Approved, Investigational 1491-59-4 4636
4
Isoproterenol Approved, Investigational 7683-59-2 3779
5
Ephedrine Approved 299-42-3 9294
6
Pseudoephedrine Approved 90-82-4 7028
7 Vasoconstrictor Agents
8 Anti-Asthmatic Agents
9 Neurotransmitter Agents
10 Mydriatics
11 Adrenergic beta-Agonists
12 Nasal Decongestants
13 Immunoglobulins
14 Antibodies
15 Adrenergic alpha-Agonists
16 Adrenergic Agonists
17 Autonomic Agents
18 Adrenergic Agents
19 Sympathomimetics
20 Cardiotonic Agents
21 Respiratory System Agents
22 Peripheral Nervous System Agents
23 Protective Agents
24 Bronchodilator Agents

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 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182 Not Applicable
3 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life Completed NCT01367977
4 Rehabilitation in Multiple Sclerosis - Sometimes Too Much? Completed NCT03187847
5 Standing Cognition and Co-morbidities of POTS Evaluation Active, not recruiting NCT03602482 Not Applicable
6 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Recruiting NCT02854098
7 Prevalence of FODMAP Intolerance and JHS in FGID and Association With Microbiome, Dyssynergic Defecation and Dietary Intervention Recruiting NCT03460613 Not Applicable
8 Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients Active, not recruiting NCT02761928
9 POTS Adrenergic Ab (CIHR Aims #1&2) Recruiting NCT02673996 Phenylephrine;Isoproterenol

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 29

Anatomical Context for Ehlers-Danlos Syndrome, Hypermobility Type

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

41
Skin, Bone, Heart

Publications for Ehlers-Danlos Syndrome, Hypermobility Type

Articles related to Ehlers-Danlos Syndrome, Hypermobility Type:

(show top 50) (show all 78)
# 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
Prevalence and frequency of self-perceived systemic features in people with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 30232714 )
2018
4
Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. ( 28051109 )
2017
5
Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study). ( 28642694 )
2017
6
Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 29125009 )
2017
7
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? ( 28286774 )
2017
8
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
9
A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT). ( 28866967 )
2017
10
Cognitive impairment in women with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 28180909 )
2017
11
Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature. ( 28924124 )
2017
12
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 28482708 )
2017
13
The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study. ( 27931013 )
2017
14
Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: a review for the gastroenterologist. ( 28086259 )
2017
15
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
16
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 28266107 )
2017
17
The association between Ehlers-Danlos syndrome-hypermobility type and gastrointestinal symptoms in university students: a cross-sectional study. ( 27683076 )
2017
18
Chronic pain in a patient with Ehlers-Danlos syndrome (hypermobility type): The role of myofascial trigger point injections. ( 28167178 )
2017
19
Multimodal Chiropractic Care for Pain and Disability in a Patient Diagnosed With Ehlers-Danlos Syndrome-Hypermobility Type: A Case Report. ( 28559755 )
2017
20
Peripheral nerve block in patients with Ehlers-Danlos syndrome, hypermobility type: a case series. ( 27555128 )
2016
21
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26919608 )
2016
22
Generalized Hyperalgesia in children and adults diagnosed with Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility type: A discriminative analysis. ( 27483212 )
2016
23
Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type. ( 26824670 )
2016
24
Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder. ( 27824552 )
2016
25
Peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type: a report of 2 cases. ( 26897449 )
2016
26
Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome. ( 27273746 )
2016
27
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. ( 27518164 )
2016
28
Evidence of small fiber neuropathy in a patient with Ehlers-Danlos syndrome, hypermobility-type. ( 26750577 )
2016
29
Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26506923 )
2015
30
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family. ( 26504261 )
2015
31
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25655071 )
2015
32
A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers-Danlos syndrome, hypermobility type. ( 25791889 )
2015
33
Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge. ( 26316810 )
2015
34
The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 25649985 )
2015
35
Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among flemish physiotherapists. ( 25821093 )
2015
36
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. ( 25821090 )
2015
37
Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. ( 25821092 )
2015
38
PP-5 JOINT HYPERMOBILITY SYNDROME/EHLERS-DANLOS SYNDROME HYPERMOBILITY TYPE AND GASTROINTESTINAL SYMPTOMS. ( 26439570 )
2015
39
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives. ( 25654988 )
2015
40
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
41
Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 25821089 )
2015
42
The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25821096 )
2015
43
Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 24752348 )
2014
44
Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type. ( 24504907 )
2014
45
Foot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing. ( 25514270 )
2014
46
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
47
Ehlers-danlos syndrome-hypermobility type and hemorrhoids. ( 24839575 )
2014
48
Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 24254847 )
2013
49
Unexpected association between joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type and obsessive-compulsive personality disorder. ( 24272065 )
2013
50
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type. ( 23533212 )
2013

Variations for Ehlers-Danlos Syndrome, Hypermobility Type

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL3A1 NM_000090.3(COL3A1): c.3818A> G (p.Lys1273Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144614075 GRCh37 Chromosome 2, 189873942: 189873942
2 COL3A1 NM_000090.3(COL3A1): c.3818A> G (p.Lys1273Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144614075 GRCh38 Chromosome 2, 189009216: 189009216
3 COL3A1 NM_000090.3(COL3A1): c.4096C> T (p.Gln1366Ter) single nucleotide variant Likely pathogenic rs863224860 GRCh37 Chromosome 2, 189875458: 189875458
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 TNXB NM_019105.6(TNXB): c.6074A> T (p.Asp2025Val) single nucleotide variant Likely pathogenic rs201397168 GRCh38 Chromosome 6, 32068536: 32068536
7 NOTCH1 NM_017617.4(NOTCH1): c.695C> A (p.Thr232Asn) single nucleotide variant Uncertain significance rs869025493 GRCh38 Chromosome 9, 136522897: 136522897
8 NOTCH1 NM_017617.4(NOTCH1): c.695C> A (p.Thr232Asn) single nucleotide variant Uncertain significance rs869025493 GRCh37 Chromosome 9, 139417349: 139417349
9 TNXB NM_019105.6(TNXB): c.2531A> G (p.Gln844Arg) single nucleotide variant not provided GRCh38 Chromosome 6, 32089033: 32089033
10 TNXB NM_019105.6(TNXB): c.2531A> G (p.Gln844Arg) single nucleotide variant not provided GRCh37 Chromosome 6, 32056810: 32056810

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

GO Terms for Ehlers-Danlos Syndrome, Hypermobility Type

Sources for Ehlers-Danlos Syndrome, Hypermobility 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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