DFNA48
MCID: DFN202
MIFTS: 38

Deafness, Autosomal Dominant 48 (DFNA48)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant 48

MalaCards integrated aliases for Deafness, Autosomal Dominant 48:

Name: Deafness, Autosomal Dominant 48 56 29 13 6 71
Dfna48 56 12 73
Autosomal Dominant Nonsyndromic Deafness 48 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48 73
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48 73
Deafness Autosomal Dominant Due to Mutation in Myo1a 73
Deafness, Autosomal Dominant, Type 48 39
Deafness, Autosomal Dominant, 48 73
Autosomal Dominant Deafness 48 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset from first to third decades of life
variable penetrance
one report of a large italian family from sardinia (last curated december 2015)


HPO:

31
deafness, autosomal dominant 48:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110571
OMIM 56 607841
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1842939
SNOMED-CT via HPO 68 263681008 60700002
UMLS 71 C1842939

Summaries for Deafness, Autosomal Dominant 48

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 48: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Dominant 48, also known as dfna48, is related to nonsyndromic hearing loss and autosomal dominant non-syndromic sensorineural deafness type dfna. An important gene associated with Deafness, Autosomal Dominant 48 is MYO1A (Myosin IA), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has material basis in variation in the chromosome region 12q13-q14.

More information from OMIM: 607841 PS124900

Related Diseases for Deafness, Autosomal Dominant 48

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 48 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss 29.0 MYO7A MYO6 MYO3A MYO15A MYH14
2 autosomal dominant non-syndromic sensorineural deafness type dfna 28.9 MYO7A MYO6 MYO1C MYO1A MYH14
3 branchiootic syndrome 1 10.3
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
5 deafness, autosomal recessive 3 10.2 MYO7A MYO15A
6 non-syndromic genetic deafness 10.2 MYO3A MYO15A
7 deafness, autosomal recessive 18a 10.1 MYO7A MYO15A
8 deafness, autosomal recessive 79 10.1 MYO3A MYO15A
9 deafness, autosomal recessive 83 10.1 MYO7A MYO15A
10 deafness, autosomal recessive 7 10.1 MYO7A MYO15A
11 deafness, autosomal recessive 63 10.1 MYO7A MYO15A
12 deafness, autosomal recessive 23 10.0 MYO7A MYO15A
13 deafness, autosomal recessive 15 10.0 MYO6 MYO15A
14 deafness, autosomal dominant 15 10.0 MYO7A MYO6
15 deafness, autosomal recessive 9 10.0 MYO7A MYO15A
16 deafness, autosomal dominant 9 10.0 MYO7A MYO6
17 vestibular disease 10.0 MYO7A MYO15A
18 autosomal recessive nonsyndromic deafness 9.9 MYO7A MYO3A MYO15A
19 deafness, autosomal recessive 2 9.9 MYO7A MYO3A MYO15A
20 deafness, autosomal dominant 16 9.9 MYO6 MYH14
21 usher syndrome, type ih 9.8 MYO7A CIB2
22 deafness, autosomal recessive 12 9.8 MYO7A MYO15A
23 usher syndrome, type ij 9.8 MYO7A CIB2
24 deafness, autosomal recessive 48 9.8 MYO7A CIB2
25 amebiasis 9.7 MYO1C MYO1B
26 myopathy, centronuclear, 1 9.7 MYO1C MYO1B MYO1A
27 pendred syndrome 9.7 MYO7A MYO15A
28 autosomal recessive nonsyndromic deafness 3 9.6 MYO7A MYO6 MYO3A MYO15A
29 deafness, autosomal dominant 11 9.6 MYO7A MYO6 MYO3A MYO15A
30 deafness, autosomal recessive 9.6 MYO6 MYO3A CIB2
31 rare genetic deafness 9.6 MYO7A MYO6 MYO3A MYO15A
32 usher syndrome, type iid 9.6 MYO7A MYO15A CIB2
33 usher syndrome, type if 9.6 MYO7A MYO15A CIB2
34 digenic disease 9.6 MYO7A CIB2
35 usher syndrome, type iic 9.5 MYO7A MYO15A CIB2
36 usher syndrome, type id 9.5 MYO7A MYO15A CIB2
37 usher syndrome type 2 9.5 MYO7A MYO15A CIB2
38 usher syndrome, type iiia 9.5 MYO7A MYO15A CIB2
39 deafness, autosomal dominant 1 9.5 MYO7A MYO3A MYO15A MYH14
40 usher syndrome 9.3 MYO7A MYO3A MYO15A CIB2
41 auditory system disease 9.0 MYO7A MYO6 MYO3A MYO15A CIB2
42 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.0 MYO7A MYO6 MYO3A MYO15A CIB2
43 usher syndrome, type i 8.9 MYO7A MYO3A MYO1C MYO15A CIB2
44 deafness, autosomal recessive 30 8.9 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
45 deafness, autosomal dominant 17 8.9 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
46 sensorineural hearing loss 8.7 MYO7A MYO6 MYO15A MYH14 CIB2
47 deafness, autosomal recessive 37 8.5 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
48 deafness, autosomal dominant 22 8.5 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
49 autosomal dominant nonsyndromic deafness 8.3 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 48:



Diseases related to Deafness, Autosomal Dominant 48

Symptoms & Phenotypes for Deafness, Autosomal Dominant 48

Human phenotypes related to Deafness, Autosomal Dominant 48:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, postlingual, slowly progressive, bilateral and symmetric (moderate to severe)

Clinical features from OMIM:

607841

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 48:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 CIB2 MYO15A MYO1A MYO1C MYO3A MYO6
2 nervous system MP:0003631 9.17 CIB2 MYH14 MYO15A MYO1C MYO3A MYO6

Drugs & Therapeutics for Deafness, Autosomal Dominant 48

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 48

Genetic Tests for Deafness, Autosomal Dominant 48

Genetic tests related to Deafness, Autosomal Dominant 48:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 48 29

Anatomical Context for Deafness, Autosomal Dominant 48

MalaCards organs/tissues related to Deafness, Autosomal Dominant 48:

40
Brain

Publications for Deafness, Autosomal Dominant 48

Articles related to Deafness, Autosomal Dominant 48:

# Title Authors PMID Year
1
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness. 6 61 56
24616153 2014
2
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. 61 6 56
12736868 2003
3
A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. 61 56
12596055 2003
4
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
5
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
6
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008

Variations for Deafness, Autosomal Dominant 48

ClinVar genetic disease variations for Deafness, Autosomal Dominant 48:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO1A NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)SNV Conflicting interpretations of pathogenicity 8146 rs121909305 12:57441459-57441459 12:57047675-57047675
2 MYO1A NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly)SNV Conflicting interpretations of pathogenicity 164590 rs151187460 12:57431732-57431732 12:57037948-57037948
3 MYO1A NM_005379.4(MYO1A):c.347_349dup (p.Ser116dup)duplication Uncertain significance 8147 rs864309476 12:57441167-57441168 12:57047383-57047384
4 MYO1A NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp)SNV Uncertain significance 8149 rs61753849 12:57435225-57435225 12:57041441-57041441
5 MYO1A NM_005379.4(MYO1A):c.2728T>C (p.Ser910Pro)SNV Uncertain significance 8151 rs121909306 12:57423368-57423368 12:57029584-57029584
6 MYO1A NM_005379.4(MYO1A):c.2021G>A (p.Gly674Asp)SNV Likely benign 226411 rs148808080 12:57431366-57431366 12:57037582-57037582
7 MYO1A NM_005379.4(MYO1A):c.1011+2T>GSNV Likely benign 226410 rs875989945 12:57437022-57437022 12:57043238-57043238
8 MYO1A NM_005379.4(MYO1A):c.640+1G>CSNV Likely benign 226409 rs199924915 12:57440335-57440335 12:57046551-57046551
9 MYO1A NM_005379.4(MYO1A):c.235G>T (p.Ala79Ser)SNV Likely benign 226408 rs147101055 12:57441501-57441501 12:57047717-57047717
10 MYO1A NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu)SNV Benign/Likely benign 8150 rs33962952 12:57431402-57431402 12:57037618-57037618
11 MYO1A NM_005379.4(MYO1A):c.916G>A (p.Val306Met)SNV Benign/Likely benign 8148 rs55679042 12:57437119-57437119 12:57043335-57043335

Expression for Deafness, Autosomal Dominant 48

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 48.

Pathways for Deafness, Autosomal Dominant 48

Pathways related to Deafness, Autosomal Dominant 48 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
2
Show member pathways
13.15 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
3
Show member pathways
13.04 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
4
Show member pathways
12.81 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
5
Show member pathways
12.65 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
6
Show member pathways
12.59 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
7 12.11 MYO6 MYO1C MYO1B MYO1A MYH14
8
Show member pathways
12.08 MYO6 MYO1C MYO1B
9
Show member pathways
11.94 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
10 10.77 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A

GO Terms for Deafness, Autosomal Dominant 48

Cellular components related to Deafness, Autosomal Dominant 48 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.15 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
2 cell GO:0005623 9.98 MYO7A MYO6 MYO1C MYO1B MYO1A MYO15A
3 cell projection GO:0042995 9.92 MYO6 MYO3A MYO1C MYO15A CIB2
4 actin cytoskeleton GO:0015629 9.8 MYO7A MYO6 MYO1C MYO1B MYO1A MYO15A
5 brush border GO:0005903 9.71 MYO1C MYO1B MYO1A MYH14
6 filamentous actin GO:0031941 9.67 MYO6 MYO3A MYO1C MYO1A
7 microvillus GO:0005902 9.65 MYO7A MYO6 MYO1C MYO1B MYO1A
8 filopodium GO:0030175 9.63 MYO6 MYO3A MYO1B
9 vesicle GO:0031982 9.63 MYO7A MYO6 MYO1C MYO1B MYO1A MYO15A
10 photoreceptor outer segment GO:0001750 9.58 MYO7A CIB2
11 stress fiber GO:0001725 9.57 MYO1C MYH14
12 lateral plasma membrane GO:0016328 9.56 MYO1C MYO1A
13 photoreceptor inner segment GO:0001917 9.55 MYO7A CIB2
14 basal plasma membrane GO:0009925 9.54 MYO1C MYO1A
15 stereocilium bundle GO:0032421 9.51 MYO1C MYO15A
16 unconventional myosin complex GO:0016461 9.48 MYO6 MYO1C
17 stereocilium GO:0032420 9.35 MYO7A MYO3A MYO1C MYO15A CIB2
18 myosin complex GO:0016459 9.23 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A

Biological processes related to Deafness, Autosomal Dominant 48 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.63 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
2 actin filament-based movement GO:0030048 9.56 MYO7A MYO6 MYO1B MYH14
3 inner ear morphogenesis GO:0042472 9.5 MYO7A MYO6 MYO15A
4 actin filament organization GO:0007015 9.43 MYO7A MYO6 MYO1C MYO1B MYO1A MYO15A
5 inner ear auditory receptor cell differentiation GO:0042491 9.37 MYO7A MYO6
6 vesicle transport along actin filament GO:0030050 9.1 MYO7A MYO6 MYO1C MYO1B MYO1A MYO15A

Molecular functions related to Deafness, Autosomal Dominant 48 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.03 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
2 ATP binding GO:0005524 10.01 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
3 actin binding GO:0003779 9.92 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
4 actin filament binding GO:0051015 9.91 MYO7A MYO6 MYO1C MYO1B MYO1A MYO15A
5 calmodulin binding GO:0005516 9.86 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
6 actin-dependent ATPase activity GO:0030898 9.76 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
7 ADP binding GO:0043531 9.63 MYO7A MYO6 MYO3A
8 motor activity GO:0003774 9.56 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A
9 microfilament motor activity GO:0000146 9.23 MYO7A MYO6 MYO3A MYO1C MYO1B MYO1A

Sources for Deafness, Autosomal Dominant 48

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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