EDMD
MCID: EMR001
MIFTS: 55

Emery-Dreifuss Muscular Dystrophy (EDMD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Cardiovascular diseases

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

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Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Emery-Dreifuss Muscular Dystrophy:

Name: Emery-Dreifuss Muscular Dystrophy 11 23 48 24 25 54 13
Muscular Dystrophy, Emery-Dreifuss 25 27 39 68
Edmd 11 48 25 54
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 48
 
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 25
Muscular Dystrophy Emery-Dreifuss 50
Emery-Dreifuss Syndrome 25

Characteristics:

Orphanet epidemiological data:

54
emery-dreifuss muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult

GeneReviews:

23
Penetrance: five lmna pathogenic variants were reported with reduced penetrance in families with ad-edmd or other lmna-related disorders [vytopil et al 2002, rankin et al 2008]...


Classifications:



External Ids:

Disease Ontology11 DOID:11726
MeSH39 D020389
NCIt45 C84685
Orphanet54 ORPHA261
ICD10 via Orphanet31 G71.0
UMLS via Orphanet69 C0410189
MESH via Orphanet40 D020389

Summaries for Emery-Dreifuss Muscular Dystrophy

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NIH Rare Diseases:48 Emery-dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting. by adulthood, most people with  emery-dreifuss muscular dystrophy develop heart problems, such as conduction defects and arrhythmias. emery-dreifuss muscular dystrophy is caused by mutations in the emd and lmna genes. it can be inherited in an x-linked, autosomal dominant, or autosomal recessive fashion. last updated: 8/16/2013

MalaCards based summary: Emery-Dreifuss Muscular Dystrophy, also known as muscular dystrophy, emery-dreifuss, is related to emery-dreifuss muscular dystrophy, dominant type and familial partial lipodystrophy, and has symptoms including Array, Array and Array. An important gene associated with Emery-Dreifuss Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Granzyme Pathway. Affiliated tissues include heart, skeletal muscle and testes, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and limbs/digits/tail.

Genetics Home Reference:25 Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early childhood and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips.

Disease Ontology:11 A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.

GeneReviews for NBK1436

Related Diseases for Emery-Dreifuss Muscular Dystrophy

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Diseases in the Emery-Dreifuss Muscular Dystrophy family:

Emery-Dreifuss Muscular Dystrophy 2, Ad Emery-Dreifuss Muscular Dystrophy 3, Ar
Emery-Dreifuss Muscular Dystrophy 7, Ad Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy, Dominant Type
Syne1-Related Emery-Dreifuss Muscular Dystrophy Syne2-Related Emery-Dreifuss Muscular Dystrophy
Syne2-Related Emery-Dreifuss Muscular Dystrophy, Autosomal Tmem43-Related Emery-Dreifuss Muscular Dystrophy, Autosomal
Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal

Diseases related to Emery-Dreifuss Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1emery-dreifuss muscular dystrophy, dominant type33.4DMD, EMD, LAMA2, LMNA, SUN2, TMPO
2familial partial lipodystrophy30.2DMD, EMD, LMNA, TMEM43
3emery-dreifuss muscular dystrophy 3, ar12.7
4emery-dreifuss muscular dystrophy 1, x-linked12.7
5emery-dreifuss muscular dystrophy 2, ad12.7
6emery-dreifuss muscular dystrophy 7, ad12.6
7emery-dreifuss muscular dystrophy, x-linked12.6
8emery-dreifuss muscular dystrophy 4, autosomal dominant12.6
9emery-dreifuss muscular dystrophy 5, autosomal dominant12.6
10fhl1-related emery-dreifuss muscular dystrophy, x-linked12.3
11syne1-related emery-dreifuss muscular dystrophy12.3
12syne2-related emery-dreifuss muscular dystrophy12.3
13tmem43-related emery-dreifuss muscular dystrophy, autosomal12.3
14emd-related emery-dreifuss muscular dystrophy, x-linked12.3
15syne2-related emery-dreifuss muscular dystrophy, autosomal12.2
16lmna-related emery-dreifuss muscular dystrophy, autosomal12.2
17myopathy, x-linked, with postural muscle atrophy12.1
18muscular dystrophy11.4
19scapuloperoneal myopathy, x-linked dominant11.2
20scapuloperoneal syndrome, myopathic type11.2
21cardiomyopathy10.7
22dilated cardiomyopathy10.5
23lipodystrophy10.5
24limb-girdle muscular dystrophy10.5
25sudden cardiac death10.4
26exocrine pancreatic insufficiency10.3EMD, FHL1
27retinitis pigmentosa 3810.3EMD, LMNA
28myopathy10.3
29myotonic dystrophy10.3
30reducing body myopathy, x-linked 1a, severe, infantile or early childhood onset10.3EMD, FHL1
31endolymphatic sac tumor10.3EMD, LMNA, SUN2
32mandibuloacral dysplasia10.2EMD, LMNA
33diffuse lipomatosis10.2BANF1, LMNA, LMNB1
34cardiac conduction defect10.2
35inclusion body myositis10.2
36atrioventricular block10.2
37atrial fibrillation10.2
38polyneuropathy10.2
39dyskeratosis congenita10.2
40congenital myasthenic syndrome10.2
41myositis10.2
42collagen vi-related myopathy10.2
43neuropathy, hereditary sensory, type id10.2MMP14, MMP2
44anisomastia10.2MMP14, MMP2
45mitochondrial complex iii deficiency, nuclear type 810.2LMNA, LMNB1
46cardiomyopathy, dilated, 1a10.2EMD, LMNA, SYNE1, SYNE2, TMEM43
47thymus clear cell carcinoma10.1EMD, LMNA, LMNB2
48arthrogryposis, distal, type 810.1EMD, LMNA
49greenberg skeletal dysplasia10.1EMD, LBR, LMNA, LMNB1, LMNB2
50microcephaly and chorioretinopathy 210.0DMD, EMD, LMNA

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy:



Diseases related to emery-dreifuss muscular dystrophy

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy

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Human phenotypes related to Emery-Dreifuss Muscular Dystrophy:

 54 64 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis64 54 Frequent (79-30%) HP:0000508
2 pectus excavatum64 54 Very frequent (99-80%) HP:0000767
3 sprengel anomaly64 54 Frequent (79-30%) HP:0000912
4 muscular hypotonia64 54 Occasional (29-5%) HP:0001252
5 gait disturbance64 54 Very frequent (99-80%) HP:0001288
6 reduced tendon reflexes64 54 Very frequent (99-80%) HP:0001315
7 joint stiffness64 54 Very frequent (99-80%) HP:0001387
8 obesity64 54 Occasional (29-5%) HP:0001513
9 hypertrophic cardiomyopathy64 54 Frequent (79-30%) HP:0001639
10 atrioventricular block64 54 Frequent (79-30%) HP:0001678
11 myotonia64 54 Very frequent (99-80%) HP:0002486
12 scoliosis64 54 Occasional (29-5%) HP:0002650
13 kyphosis64 54 Occasional (29-5%) HP:0002808
14 myopathy64 54 Very frequent (99-80%) HP:0003198
15 elevated serum creatine phosphokinase64 54 Very frequent (99-80%) HP:0003236
16 hyperlordosis64 54 Very frequent (99-80%) HP:0003307
17 emg abnormality64 54 Very frequent (99-80%) HP:0003457
18 scapular winging64 54 Frequent (79-30%) HP:0003691
19 ichthyosis64 54 Occasional (29-5%) HP:0008064
20 cognitive impairment64 54 Frequent (79-30%) HP:0100543

GenomeRNAi Phenotypes related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.5LAMA2, LMNA, LMNB1, TMPO

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0BCLAF1, DMD, LBR, LMNA, MMP14, TMPO
2MP:00053918.4DMD, LBR, LMNA, MMP14, MMP2, OPN1LW
3MP:00053858.3DMD, EMD, FHL1, LEMD3, LMNA, MMP14
4MP:00053868.0BCLAF1, DMD, EMD, FHL1, LAMA2, LBR
5MP:00053887.8BCLAF1, DMD, LBR, LMNA, LMNB1, LMNB2
6MP:00053697.5DMD, EMD, FHL1, LAMA2, LMNA, LMNB1
7MP:00053787.3BCLAF1, DMD, FHL1, LAMA2, LBR, LMNA
8MP:00036317.3DMD, FHL1, LAMA2, LBR, LMNA, LMNB1
9MP:00053847.1BCLAF1, DMD, EMD, LAMA2, LBR, LEMD3
10MP:00107686.6ASNA1, BCLAF1, DMD, LAMA2, LBR, LEMD3

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy


Cochrane evidence based reviews: muscular dystrophy, emery-dreifuss

Genetic Tests for Emery-Dreifuss Muscular Dystrophy

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Genetic tests related to Emery-Dreifuss Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy27 24 EMD, FHL1, LMNA, TMEM43

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

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MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy:

36
Heart, Skeletal muscle, Testes, Skin, Breast

Publications for Emery-Dreifuss Muscular Dystrophy

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Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50)    (show all 230)
idTitleAuthorsYear
1
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. (28214269)
2017
2
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. (28069046)
2017
3
Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress. (28531892)
2017
4
Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type 1 and Emery Dreifuss Muscular Dystrophy. (28237579)
2017
5
Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene. (27461183)
2016
6
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. (27179216)
2016
7
Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. (27054045)
2016
8
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. (26675233)
2016
9
FHL1B Interacts with Lamin A/C andA Emerin at the Nuclear Lamina andA isA Misregulated in Emery-Dreifuss Muscular Dystrophy. (27911330)
2016
10
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals. (27942506)
2016
11
Emery-Dreifuss muscular dystrophy: a test case for precision medicine. (26966385)
2016
12
Cardiac effects of the c.1583 Ca89G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy. (26165385)
2015
13
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. (25542668)
2015
14
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. (26443318)
2015
15
Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-center study with a 39-year follow-up. (26575312)
2015
16
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A. (25502304)
2015
17
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. (25454731)
2015
18
Surgical treatment of upper extremity contractures in Emery-Dreifuss muscular dystrophy. (26588837)
2015
19
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy. (25563468)
2015
20
Combined subpectoral implantation of a cardioverter defibrillator and breast augmentation surgery in a patient with Emery-Dreifuss muscular dystrophy. (26021635)
2015
21
Cardiovascular risk markers in dilated cardiomyopathy in Emery-Dreifuss muscular dystrophy (EDMD). (24681014)
2014
22
LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. (24825363)
2014
23
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. (24839233)
2014
24
ICD role in preventing sudden cardiac death in Emery-Dreifuss muscular dystrophy with preserved myocardial function: 2013 ESC Guidelines on Cardiac Pacing and Cardiac Resynchronization Therapy. (24948592)
2014
25
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. (23313286)
2013
26
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. (23622360)
2013
27
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. (23456229)
2013
28
Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation. (23815988)
2013
29
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. (23180524)
2012
30
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. (21993399)
2012
31
Successful intravenous rt-PA thrombolysis for a childhood cardioembolic stroke with Emery-Dreifuss muscular dystrophy. (22179395)
2012
32
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. (22431096)
2012
33
Increased dispersion of ventricular repolarization in Emery Dreifuss muscular dystrophy patients. (23111739)
2012
34
In vitro contracture test results and anaesthetic management of a patient with emery-dreifuss muscular dystrophy for cardiac transplantation. (22973525)
2012
35
Anaesthesia and orphan disease: management of cardiac and perioperative risks in a patient with Emery-Dreifuss muscular dystrophy. (23010897)
2012
36
Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. (21372459)
2011
37
Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy. (22077867)
2011
38
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. (21391237)
2011
39
Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. (21596026)
2011
40
Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. (21063730)
2011
41
Emery-Dreifuss muscular dystrophy. (21496632)
2011
42
Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy. (21922471)
2011
43
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. (21697856)
2011
44
P-wave duration and dispersion in patients with Emery-Dreifuss muscular dystrophy. (22011621)
2011
45
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. (20848652)
2011
46
Atrial paralysis due to progression of cardiac disease in a patient with Emery-Dreifuss muscular dystrophy. (21432827)
2011
47
Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. (20715741)
2010
48
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. (20149661)
2010
49
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. (20576434)
2010
50
Successful surgical repair for Emery-Dreifuss muscular dystrophy valvular disease with long-term follow-up. (20139205)
2010

Variations for Emery-Dreifuss Muscular Dystrophy

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Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy.

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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Pathways related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.8DMD, LAMA2
2
Show member pathways
9.8LMNA, LMNB1, LMNB2
39.6LMNA, LMNB1, LMNB2, TMPO
4
Show member pathways
9.5DMD, EMD, LAMA2, LMNA
5
Show member pathways
9.5DMD, EMD, LAMA2, LMNA
6
Show member pathways
9.5DMD, LMNA, LMNB1, LMNB2
7
Show member pathways
9.4LMNA, LMNB1, SUN2, SYNE1, SYNE2
89.4EMD, LMNA, LMNB1, LMNB2, TMPO
9
Show member pathways
9.2BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
10
Show member pathways
9.2BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
11
Show member pathways
9.2BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
12
Show member pathways
9.2BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
13
Show member pathways
8.6BANF1, EMD, LEMD3, LMNA, LMNB1, SUN2

GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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Cellular components related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1filopodium membraneGO:003152710.8DMD, SYNE2
2nuclear outer membraneGO:000564010.7EMD, SYNE1, SYNE2
3LINC complexGO:003499310.7SUN2, SYNE1, SYNE2
4lamin filamentGO:000563810.6LMNA, LMNB1, LMNB2
5integral component of nuclear inner membraneGO:000563910.4LBR, LEMD3, SUN2, TMEM43
6extracellular matrixGO:00310129.9LAMA2, LMNA, MMP14, MMP2
7nuclear inner membraneGO:00056379.4EMD, LBR, LEMD3, LMNB1, LMNB2, SUN2
8nuclear membraneGO:00319659.3EMD, LBR, LEMD3, LMNA, LMNB1, SUN2
9nuclear envelopeGO:00056359.3EMD, LBR, LMNA, LMNB1, LMNB2, SUN2
10nucleusGO:00056345.7ASNA1, BANF1, BCLAF1, DMD, EMD, FHL1

Biological processes related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1centrosome localizationGO:005164210.7SUN2, SYNE2
2muscle cell differentiationGO:004269210.5DMD, SYNE1
3mitotic nuclear envelope disassemblyGO:000707710.5BANF1, EMD, LMNA
4mitotic nuclear envelope reassemblyGO:000708410.5BANF1, EMD, LMNA
5cytoskeletal anchoring at nuclear membraneGO:009028610.5SUN2, SYNE1, SYNE2
6nuclear matrix anchoring at nuclear membraneGO:009029210.4SUN2, SYNE1
7nuclear migrationGO:000709710.2SUN2, SYNE2
8nuclear migration along microfilamentGO:003102210.1SUN2, SYNE2
9nucleokinesis involved in cell motility in cerebral cortex radial glia guided migrationGO:002181710.1SUN2, SYNE2
10nuclear envelope organizationGO:000699810.0LEMD3, LMNA, SUN2, SYNE2
11muscle organ developmentGO:00075179.9DMD, EMD, FHL1, LAMA2

Molecular functions related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:000377910.4DMD, EMD, SYNE1, SYNE2
2lamin bindingGO:000552110.1DMD, LBR, SUN2, SYNE1, TMPO
3structural molecule activityGO:00051989.4LAMA2, LMNA, LMNB1, LMNB2
4protein bindingGO:00055156.5ASNA1, BANF1, BCLAF1, DMD, EMD, FHL1

Sources for Emery-Dreifuss Muscular Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet