EDMD4
MCID: EMR014
MIFTS: 41

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant (EDMD4)

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

Name: Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 57 12 73 29 13 6
Emery-Dreifuss Muscular Dystrophy 4 with Variable Features 57 12 73
Edmd4 57 12 73
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 12 15
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant 39
Emery-Dreifuss Muscular Dystrophy 4 71
Emd4 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
two unrelated patients have been reported (last curated july 2019)


HPO:

31
emery-dreifuss muscular dystrophy 4, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070249
OMIM® 57 612998
OMIM Phenotypic Series 57 PS310300
MeSH 44 D020389
MedGen 41 C2751807
UMLS 71 C2751807

Summaries for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 Emery-Dreifuss muscular dystrophy 4, autosomal dominant: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant, also known as emery-dreifuss muscular dystrophy 4 with variable features, is related to familial isolated arrhythmogenic ventricular dysplasia, left dominant form and familial isolated arrhythmogenic ventricular dysplasia, biventricular form. An important gene associated with Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. Related phenotypes are elevated serum creatine kinase and muscular dystrophy

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of SYNE1 on chromosome 6q25.2.

More information from OMIM: 612998 PS310300

Related Diseases for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Diseases in the Emery-Dreifuss Muscular Dystrophy family:

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

Diseases related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 TMEM43 LMNA
2 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TMEM43 LMNA
3 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TMEM43 LMNA
4 arthrogryposis multiplex congenita 3, myogenic type 10.2 SYNE1-AS1 SYNE1 ESR1
5 first-degree atrioventricular block 10.2 LMNA EMD
6 arrhythmogenic right ventricular dysplasia, familial, 5 10.2 TMEM43 EMD
7 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.1 SYNE2 LMNA
8 left bundle branch hemiblock 10.1 TMEM43 LMNA
9 arrhythmogenic right ventricular dysplasia, familial, 9 10.1 TMEM43 LMNA
10 retinitis pigmentosa 47 10.1 LMNA ESR1
11 osteopoikilosis 10.1 SYNE2 LMNA EMD
12 rigid spine muscular dystrophy 1 10.0 LMNA FHL1 EMD
13 autosomal dominant limb-girdle muscular dystrophy 10.0 LMNA EMD
14 nonencapsulated sclerosing carcinoma 9.9 LMNB1 LMNA
15 emerinopathy 9.9 SUN2 LMNA EMD
16 x-linked emery-dreifuss muscular dystrophy 9.8 SYNE2 SYNE1 LMNA FHL1 EMD
17 lipodystrophy, familial partial, type 5 9.8 LMNB1 LMNA EMD
18 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.8 LMNB1 LMNA EMD
19 laminopathy 9.8 SYNE2 SUN2 LMNA EMD
20 atrial standstill 1 9.7 TMEM43 LMNA EMD
21 muscle tissue disease 9.7 LMNB1 LMNA EMD
22 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.7 TMEM43 SYNE2 SYNE1 SUN2 EMD
23 reynolds syndrome 9.6 SUN2 LMNB1 LMNA
24 buschke-ollendorff syndrome 9.5 SYNE2 SYNE1 LMNB1 LMNA EMD
25 pelger-huet anomaly 9.5 SYNE2 SYNE1 LMNB1 LMNA EMD
26 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.5 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
27 dilated cardiomyopathy 9.4 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
28 cardiomyopathy, dilated, 1a 9.4 TMEM43 SYNE2 SYNE1 LMNB1 LMNA EMD
29 myopathy 9.4 TMEM43 SYNE2 SYNE1 SUN2 LMNA FHL1
30 greenberg dysplasia 9.2 SYNE2 SYNE1 SUN2 LMNB1 LMNA EMD
31 hutchinson-gilford progeria syndrome 9.2 SYNE2 SYNE1 SUN2 LMNB1 LMNA EMD
32 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.2 TMEM43 TMEM214 SYNE2 SYNE1 SUN2 LMNA
33 charcot-marie-tooth disease, axonal, type 2b1 9.1 TMEM43 SYNE2 SYNE1 SUN2 LMNB1 LMNA
34 emery-dreifuss muscular dystrophy 1, x-linked 9.1 TMEM43 SYNE2 SYNE1 SUN2 LMNB1 LMNA
35 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.1 TMEM43 SYNE2 SYNE1 SUN2 LMNB1 LMNA
36 muscular dystrophy, congenital, lmna-related 8.9 TMEM43 SYNE2 SYNE1 SUN2 LMNB1 LMNA
37 cardiomyopathy, dilated, 1h 8.9 TMEM43 TMEM214 SYNE2 SYNE1 SUN2 LMNB1
38 myopathy, x-linked, with postural muscle atrophy 8.9 TMEM43 TMEM38A TMEM214 SYNE2 SYNE1 SUN2
39 spinocerebellar ataxia, autosomal recessive 8 8.8 SYNE2 SYNE1-AS1 SYNE1 SUN2 LMNB1 LMNA
40 muscular dystrophy 8.8 TMEM43 SYNE2 SYNE1 SUN2 LMNB1 LMNA
41 emery-dreifuss muscular dystrophy 8.0 TMEM43 TMEM38A TMEM214 SYNE2 SYNE1-AS1 SYNE1

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:



Diseases related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 31 HP:0003236
2 muscular dystrophy 31 HP:0003560
3 proximal amyotrophy 31 HP:0007126
4 proximal muscle weakness 31 HP:0003701
5 neck muscle weakness 31 HP:0000467
6 ventricular septal hypertrophy 31 HP:0005144

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Neck:
neck muscle weakness
neck muscle atrophy

Muscle Soft Tissue:
muscle biopsy shows dystrophic pattern
muscle weakness and atrophy, proximal

Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
ventricular and septal hypertrophy
mild diastolic dysfunction

Clinical features from OMIM®:

612998 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 EMD ESR1 FHL1 LMNA LMNB1 SUN2

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 29 SYNE1

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Publications for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Articles related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

# Title Authors PMID Year
1
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 57 6
17761684 2007
2
Properties of a Bacteriocin Produced by Bacillus subtilis EMD4 Isolated from Ganjang (Soy Sauce). 61
26017225 2015
3
Characterization of antinociceptive potency of endomorphin-2 derivatives with unnatural amino acids in rats. 61
22982723 2012

Variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

6 (show top 50) (show all 1561)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SYNE1 NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) SNV Pathogenic 2332 rs119103246 6:152473122-152473122 6:152151987-152151987
2 SYNE1 NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) SNV Pathogenic 522959 rs1554451078 6:152646309-152646309 6:152325174-152325174
3 FBXO5 NC_000006.12:g.(?_152122416)_(153426916_?)del Deletion Pathogenic 538429 6:152443551-153748051 6:152122416-153426916
4 SYNE1 NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs) Microsatellite Pathogenic 568019 rs1564367104 6:152804350-152804351 6:152483215-152483216
5 SYNE1 NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter) SNV Pathogenic 571581 rs746328978 6:152629755-152629755 6:152308620-152308620
6 SYNE1 NM_182961.4(SYNE1):c.23461-1G>A SNV Pathogenic 638338 rs1586909309 6:152497696-152497696 6:152176561-152176561
7 SYNE1 NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) Deletion Pathogenic 282324 rs886042380 6:152655353-152655353 6:152334218-152334218
8 SYNE1 NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter) SNV Pathogenic 650439 rs1586296730 6:152473185-152473185 6:152152050-152152050
9 SYNE1 NM_182961.4(SYNE1):c.15918-12A>G SNV Pathogenic 2326 rs606231134 6:152643033-152643033 6:152321898-152321898
10 SYNE1 NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) SNV Pathogenic 379571 rs910956017 6:152590313-152590313 6:152269178-152269178
11 SYNE1 NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter) SNV Pathogenic 662396 rs757744079 6:152751793-152751793 6:152430658-152430658
12 SYNE1 NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter) SNV Pathogenic 650230 rs1466752822 6:152831358-152831358 6:152510223-152510223
13 SYNE1 NM_182961.4(SYNE1):c.4975_4976+8del Deletion Pathogenic 655334 rs1592490234 6:152749332-152749341 6:152428197-152428206
14 SYNE1 NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter) SNV Pathogenic 843446 6:152621810-152621810 6:152300675-152300675
15 SYNE1 NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter) SNV Pathogenic 863071 6:152779924-152779924 6:152458789-152458789
16 SYNE1 NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter) SNV Pathogenic 915366 6:152697632-152697632 6:152376497-152376497
17 SYNE1 NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter) SNV Pathogenic 937252 6:152708407-152708407 6:152387272-152387272
18 SYNE1 NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter) SNV Pathogenic 377101 rs1057520134 6:152560836-152560836 6:152239701-152239701
19 SYNE1 NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter) SNV Pathogenic 632480 rs766499430 6:152558079-152558079 6:152236944-152236944
20 SYNE1 NM_182961.4(SYNE1):c.8636del (p.Lys2879fs) Deletion Pathogenic 950432 6:152706825-152706825 6:152385690-152385690
21 SYNE1 NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter) SNV Pathogenic 943651 6:152614830-152614830 6:152293695-152293695
22 SYNE1 NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter) SNV Pathogenic 498361 rs375077588 6:152651176-152651176 6:152330041-152330041
23 SYNE1 NM_182961.4(SYNE1):c.226-2dup Duplication Likely pathogenic 279936 rs774388631 6:152841678-152841679 6:152520543-152520544
24 SYNE1 NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter) SNV Likely pathogenic 928923 6:152565692-152565692 6:152244557-152244557
25 SYNE1 NM_182961.4(SYNE1):c.6723+1G>C SNV Likely pathogenic 839686 6:152728148-152728148 6:152407013-152407013
26 SYNE1 NM_182961.4(SYNE1):c.10608+1G>C SNV Likely pathogenic 659334 rs1590998146 6:152679507-152679507 6:152358372-152358372
27 SYNE1 NM_182961.4(SYNE1):c.19260+2T>C SNV Likely pathogenic 650466 rs1588855714 6:152576724-152576724 6:152255589-152255589
28 SYNE1 NM_182961.4(SYNE1):c.4499T>A (p.Ile1500Asn) SNV Likely pathogenic 208449 rs746438011 6:152751807-152751807 6:152430672-152430672
29 SYNE1 NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) SNV Conflicting interpretations of pathogenicity 212336 rs139075013 6:152652489-152652489 6:152331354-152331354
30 SYNE1 NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) SNV Conflicting interpretations of pathogenicity 355857 rs369292604 6:152631888-152631888 6:152310753-152310753
31 SYNE1 NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys) SNV Uncertain significance 282320 rs35484093 6:152651656-152651656 6:152330521-152330521
32 SYNE1 NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His) SNV Uncertain significance 650390 rs944485518 6:152539523-152539523 6:152218388-152218388
33 SYNE1 NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) SNV Uncertain significance 286235 rs140005424 6:152746658-152746658 6:152425523-152425523
34 SYNE1 NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met) SNV Uncertain significance 655739 rs553508431 6:152570385-152570385 6:152249250-152249250
35 SYNE1 NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His) SNV Uncertain significance 502159 rs146769373 6:152690652-152690652 6:152369517-152369517
36 SYNE1 NM_182961.4(SYNE1):c.225+5G>C SNV Uncertain significance 660072 rs1594697066 6:152847210-152847210 6:152526075-152526075
37 SYNE1 NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys) SNV Uncertain significance 586699 rs774710219 6:152686049-152686049 6:152364914-152364914
38 SYNE1 NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg) SNV Uncertain significance 660600 rs1586408465 6:152477073-152477073 6:152155938-152155938
39 SYNE1 NM_182961.4(SYNE1):c.22153G>A (p.Asp7385Asn) SNV Uncertain significance 286000 rs886043280 6:152539430-152539430 6:152218295-152218295
40 SYNE1 NM_182961.4(SYNE1):c.2728A>T (p.Ser910Cys) SNV Uncertain significance 448596 rs141214076 6:152776725-152776725 6:152455590-152455590
41 SYNE1 NM_182961.4(SYNE1):c.23562G>T (p.Glu7854Asp) SNV Uncertain significance 500407 rs894257787 6:152497594-152497594 6:152176459-152176459
42 SYNE1 NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys) SNV Uncertain significance 660772 rs918895767 6:152623087-152623087 6:152301952-152301952
43 SYNE1 NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln) SNV Uncertain significance 193773 rs781427258 6:152576061-152576061 6:152254926-152254926
44 SYNE1 NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys) SNV Uncertain significance 285295 rs375917264 6:152841662-152841662 6:152520527-152520527
45 SYNE1 NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn) SNV Uncertain significance 661623 rs1366322267 6:152665238-152665238 6:152344103-152344103
46 SYNE1 NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile) SNV Uncertain significance 448608 rs372524102 6:152722318-152722318 6:152401183-152401183
47 SYNE1 NM_182961.4(SYNE1):c.12790G>A (p.Ala4264Thr) SNV Uncertain significance 834581 6:152655147-152655147 6:152334012-152334012
48 SYNE1 NM_182961.4(SYNE1):c.1078A>G (p.Met360Val) SNV Uncertain significance 834871 6:152806077-152806077 6:152484942-152484942
49 SYNE1 NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr) SNV Uncertain significance 450784 rs1007703591 6:152841628-152841628 6:152520493-152520493
50 SYNE1 NM_182961.4(SYNE1):c.23243C>G (p.Ser7748Cys) SNV Uncertain significance 836454 6:152510445-152510445 6:152189310-152189310

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 SYNE1 p.Arg8095His VAR_062974 rs119103246
2 SYNE1 p.Glu8461Lys VAR_062976 rs119103248

Expression for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant.

Pathways for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Pathways related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 SYNE2 SYNE1 SUN2 LMNB1 LMNA FBXO5
2
Show member pathways
11.49 SYNE2 SYNE1 SUN2 LMNB1 LMNA
3
Show member pathways
10.65 LMNB1 LMNA EMD

GO Terms for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Cellular components related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.22 TMEM43 TMEM38A SYNE2 SYNE1 SUN2 STEEP1
2 nuclear inner membrane GO:0005637 9.55 TMEM43 SUN2 LMNB1 FAM169A EMD
3 nuclear outer membrane GO:0005640 9.5 SYNE2 SYNE1 EMD
4 nuclear membrane GO:0031965 9.5 TMEM38A SYNE2 SYNE1 SUN2 LMNB1 LMNA
5 integral component of nuclear inner membrane GO:0005639 9.43 TMEM43 SUN2
6 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.43 SYNE2 SYNE1 SUN2
7 lamin filament GO:0005638 9.37 LMNB1 LMNA
8 nuclear envelope GO:0005635 9.17 SYNE2 SYNE1 SUN2 LMNB1 LMNA FAM169A

Biological processes related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.58 LMNA FHL1 EMD
2 nucleus organization GO:0006997 9.48 SYNE1 LMNA
3 nuclear envelope organization GO:0006998 9.46 SUN2 LMNA
4 centrosome localization GO:0051642 9.43 SYNE2 SUN2
5 nuclear migration GO:0007097 9.37 SYNE2 SUN2
6 mitotic nuclear envelope reassembly GO:0007084 9.32 LMNA EMD
7 nuclear membrane organization GO:0071763 9.26 TMEM43 EMD
8 nuclear matrix anchoring at nuclear membrane GO:0090292 9.16 SYNE1 SUN2
9 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 8.96 SYNE2 SUN2
10 nuclear migration along microfilament GO:0031022 8.62 SYNE2 SUN2

Molecular functions related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lamin binding GO:0005521 8.62 SYNE1 SUN2

Sources for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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