MCID: DFN201
MIFTS: 32

Deafness, Autosomal Recessive 3

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

Aliases & Classifications for Deafness, Autosomal Recessive 3

MalaCards integrated aliases for Deafness, Autosomal Recessive 3:

Name: Deafness, Autosomal Recessive 3 57 29 13 6 73
Dfnb3 57 75 55
Neurosensory Nonsyndromic Recessive Deafness 3 57 75
Nsrd3 57 75
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 3 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 3 75
Neurosensory Nonsyndromic Recessive Deafness 3; Nsrd3 57
Deafness Neurosensory Autosomal Recessive 3 75
Deafness, Autosomal Recessive, Type 3 40
Deafness, Autosomal Recessive, 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive (17p12-q12)


HPO:

32
deafness, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 600316
MedGen 42 C1838263
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005
UMLS 73 C1838263

Summaries for Deafness, Autosomal Recessive 3

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 3: 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 Recessive 3, also known as dfnb3, is related to autosomal recessive nonsyndromic deafness 3 and hodgkin's lymphoma, nodular sclerosis. An important gene associated with Deafness, Autosomal Recessive 3 is MYO15A (Myosin XVA), and among its related pathways/superpathways is Cytoskeleton remodeling_RalA regulation pathway. Affiliated tissues include brain, and related phenotypes are profound sensorineural hearing impairment and hearing/vestibular/ear

Description from OMIM: 600316

Related Diseases for Deafness, Autosomal Recessive 3

Diseases in the Familial 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 32 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 Recessive 105 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 Nonsyndromic Deafness
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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 3 30.4 GJB2 MYO15A MYO7A
2 hodgkin's lymphoma, nodular sclerosis 10.2 GJB2 MYO15A
3 non-syndromic genetic deafness 10.1 GJB2 MYO15A
4 autosomal recessive nonsyndromic deafness 10.0 GJB2 MYO15A
5 deafness, autosomal dominant 11 9.8 MYO15A MYO7A
6 deafness, autosomal dominant 48 9.8 MYO15A MYO7A
7 deafness, autosomal recessive 85 9.8 MYO15A MYO7A
8 deafness, autosomal recessive 83 9.8 MYO15A MYO7A
9 deafness, autosomal dominant 22 9.8 MYO15A MYO7A
10 deafness, autosomal recessive 37 9.8 MYO15A MYO7A
11 dfnb1 9.8 GJB2 MYO7A
12 deafness, autosomal dominant 17 9.8 MYO15A MYO7A
13 deafness, autosomal recessive 23 9.7 GJB2 MYO7A
14 deafness, autosomal recessive 12 9.7 GJB2 MYO7A
15 deafness, autosomal recessive 6 9.7 GJB2 MYO7A
16 deafness, autosomal recessive 16 9.6 GJB2 MYO7A
17 deafness, autosomal dominant 6 9.6 GJB2 MYO7A
18 autosomal dominant non-syndromic sensorineural deafness type dfna 9.6 GJB2 MYO7A
19 deafness, autosomal dominant 13 9.5 GJB2 MYO7A
20 inner ear disease 9.5 GJB2 MYO7A
21 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 GJB2 MYO7A
22 autosomal dominant nonsyndromic deafness 9.3 GJB2 MYO7A
23 deafness, autosomal recessive 2 9.3 GJB2 MYO15A MYO7A
24 deafness, autosomal recessive 30 9.3 GJB2 MYO15A MYO7A
25 auditory system disease 9.3 GJB2 MYO15A MYO7A
26 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.2 GJB2 MYO15A MYO7A
27 sensorineural hearing loss 9.2 GJB2 MYO15A MYO7A
28 nonsyndromic deafness 9.2 GJB2 MYO15A MYO7A
29 usher syndrome 9.0 GJB2 MYO7A
30 trehalase deficiency 8.7 GJB2 MYO15A MYO7A

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 3:



Diseases related to Deafness, Autosomal Recessive 3

Symptoms & Phenotypes for Deafness, Autosomal Recessive 3

Symptoms via clinical synopsis from OMIM:

57
Ears:
profound, congenital, neurosensory, nonsyndromal deafness


Clinical features from OMIM:

600316

Human phenotypes related to Deafness, Autosomal Recessive 3:

32
# Description HPO Frequency HPO Source Accession
1 profound sensorineural hearing impairment 32 HP:0011476

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 GJB2 MYO15A MYO7A

Drugs & Therapeutics for Deafness, Autosomal Recessive 3

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 3

Genetic Tests for Deafness, Autosomal Recessive 3

Genetic tests related to Deafness, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 3 29 MYO15A

Anatomical Context for Deafness, Autosomal Recessive 3

MalaCards organs/tissues related to Deafness, Autosomal Recessive 3:

41
Brain

Publications for Deafness, Autosomal Recessive 3

Variations for Deafness, Autosomal Recessive 3

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 3:

75
# Symbol AA change Variation ID SNP ID
1 MYO15A p.Asn2111Tyr VAR_010303 rs121908966
2 MYO15A p.Ile2113Phe VAR_010304 rs121908965
3 MYO15A p.Gln2716His VAR_037964 rs121908969
4 MYO15A p.Leu1806Pro VAR_071648

ClinVar genetic disease variations for Deafness, Autosomal Recessive 3:

6
(show top 50) (show all 122)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO15A NM_016239.3(MYO15A): c.3685C> T (p.Gln1229Ter) single nucleotide variant Pathogenic rs121908968 GRCh38 Chromosome 17, 18124558: 18124558
2 MYO15A MYO15A, IVS4DS, G-T, +1 single nucleotide variant Pathogenic
3 MYO15A NM_016239.3(MYO15A): c.6337A> T (p.Ile2113Phe) single nucleotide variant Pathogenic rs121908965 GRCh37 Chromosome 17, 18049249: 18049249
4 MYO15A NM_016239.3(MYO15A): c.6337A> T (p.Ile2113Phe) single nucleotide variant Pathogenic rs121908965 GRCh38 Chromosome 17, 18145935: 18145935
5 MYO15A NM_016239.3(MYO15A): c.6331A> T (p.Asn2111Tyr) single nucleotide variant Pathogenic rs121908966 GRCh37 Chromosome 17, 18049243: 18049243
6 MYO15A NM_016239.3(MYO15A): c.6331A> T (p.Asn2111Tyr) single nucleotide variant Pathogenic rs121908966 GRCh38 Chromosome 17, 18145929: 18145929
7 MYO15A NM_016239.3(MYO15A): c.7801A> T (p.Lys2601Ter) single nucleotide variant Pathogenic rs121908967 GRCh37 Chromosome 17, 18055173: 18055173
8 MYO15A NM_016239.3(MYO15A): c.7801A> T (p.Lys2601Ter) single nucleotide variant Pathogenic rs121908967 GRCh38 Chromosome 17, 18151859: 18151859
9 MYO15A NM_016239.3(MYO15A): c.3685C> T (p.Gln1229Ter) single nucleotide variant Pathogenic rs121908968 GRCh37 Chromosome 17, 18027872: 18027872
10 MYO15A NM_016239.3(MYO15A): c.8148G> T (p.Gln2716His) single nucleotide variant Pathogenic rs121908969 GRCh37 Chromosome 17, 18057504: 18057504
11 MYO15A NM_016239.3(MYO15A): c.8148G> T (p.Gln2716His) single nucleotide variant Pathogenic rs121908969 GRCh38 Chromosome 17, 18154190: 18154190
12 MYO15A NM_016239.3(MYO15A): c.3313G> T (p.Glu1105Ter) single nucleotide variant Pathogenic rs121908971 GRCh37 Chromosome 17, 18025427: 18025427
13 MYO15A NM_016239.3(MYO15A): c.3313G> T (p.Glu1105Ter) single nucleotide variant Pathogenic rs121908971 GRCh38 Chromosome 17, 18122113: 18122113
14 MYO15A MYO15A, 1-BP DEL, 3334G deletion Pathogenic
15 MYO15A NM_016239.3(MYO15A): c.5492G> T (p.Gly1831Val) single nucleotide variant Pathogenic rs121908972 GRCh37 Chromosome 17, 18044418: 18044418
16 MYO15A NM_016239.3(MYO15A): c.5492G> T (p.Gly1831Val) single nucleotide variant Pathogenic rs121908972 GRCh38 Chromosome 17, 18141104: 18141104
17 MYO15A MYO15A, IVS50AS, G-C, -1 single nucleotide variant Pathogenic
18 MYO15A MYO15A, 1-BP DEL, 10573A deletion Pathogenic
19 MYO15A MYO15A, 4-BP DEL, 9957TGAC deletion Pathogenic
20 MYO15A NM_016239.3(MYO15A): c.4848C> G (p.Phe1616Leu) single nucleotide variant Uncertain significance rs368430972 GRCh37 Chromosome 17, 18040966: 18040966
21 MYO15A NM_016239.3(MYO15A): c.4848C> G (p.Phe1616Leu) single nucleotide variant Uncertain significance rs368430972 GRCh38 Chromosome 17, 18137652: 18137652
22 MYO15A NM_016239.3(MYO15A): c.7367C> G (p.Ala2456Gly) single nucleotide variant Uncertain significance rs199953758 GRCh37 Chromosome 17, 18054051: 18054051
23 MYO15A NM_016239.3(MYO15A): c.7367C> G (p.Ala2456Gly) single nucleotide variant Uncertain significance rs199953758 GRCh38 Chromosome 17, 18150737: 18150737
24 MYO15A NM_016239.3(MYO15A): c.8714-1G> A single nucleotide variant Pathogenic rs377015931 GRCh37 Chromosome 17, 18060469: 18060469
25 MYO15A NM_016239.3(MYO15A): c.8714-1G> A single nucleotide variant Pathogenic rs377015931 GRCh38 Chromosome 17, 18157155: 18157155
26 MYO15A NM_016239.3(MYO15A): c.1783G> A (p.Ala595Thr) single nucleotide variant Benign/Likely benign rs2955365 GRCh37 Chromosome 17, 18023897: 18023897
27 MYO15A NM_016239.3(MYO15A): c.1783G> A (p.Ala595Thr) single nucleotide variant Benign/Likely benign rs2955365 GRCh38 Chromosome 17, 18120583: 18120583
28 MYO15A NM_016239.3(MYO15A): c.3311dupG (p.Glu1105Terfs) duplication Pathogenic rs794729637 GRCh38 Chromosome 17, 18122111: 18122111
29 MYO15A NM_016239.3(MYO15A): c.3311dupG (p.Glu1105Terfs) duplication Pathogenic rs794729637 GRCh37 Chromosome 17, 18025425: 18025425
30 MYO15A NM_016239.3(MYO15A): c.5925G> A (p.Trp1975Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs375290498 GRCh38 Chromosome 17, 18143580: 18143580
31 MYO15A NM_016239.3(MYO15A): c.5925G> A (p.Trp1975Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs375290498 GRCh37 Chromosome 17, 18046894: 18046894
32 MYO15A NM_016239.3(MYO15A): c.10054G> A (p.Ala3352Thr) single nucleotide variant Uncertain significance rs367863299 GRCh38 Chromosome 17, 18167695: 18167695
33 MYO15A NM_016239.3(MYO15A): c.10054G> A (p.Ala3352Thr) single nucleotide variant Uncertain significance rs367863299 GRCh37 Chromosome 17, 18071009: 18071009
34 MYO15A NM_016239.3(MYO15A): c.1899A> G (p.Pro633=) single nucleotide variant Benign/Likely benign rs2955366 GRCh37 Chromosome 17, 18024013: 18024013
35 MYO15A NM_016239.3(MYO15A): c.1899A> G (p.Pro633=) single nucleotide variant Benign/Likely benign rs2955366 GRCh38 Chromosome 17, 18120699: 18120699
36 MYO15A NM_016239.3(MYO15A): c.2152T> G (p.Trp718Gly) single nucleotide variant Benign/Likely benign rs2955367 GRCh37 Chromosome 17, 18024266: 18024266
37 MYO15A NM_016239.3(MYO15A): c.2152T> G (p.Trp718Gly) single nucleotide variant Benign/Likely benign rs2955367 GRCh38 Chromosome 17, 18120952: 18120952
38 MYO15A NM_016239.3(MYO15A): c.8183G> A (p.Arg2728His) single nucleotide variant Likely pathogenic rs184435771 GRCh37 Chromosome 17, 18058028: 18058028
39 MYO15A NM_016239.3(MYO15A): c.8183G> A (p.Arg2728His) single nucleotide variant Likely pathogenic rs184435771 GRCh38 Chromosome 17, 18154714: 18154714
40 MYO15A NM_016239.3(MYO15A): c.373_374delCG (p.Arg125Valfs) deletion no interpretation for the single variant rs878853239 GRCh38 Chromosome 17, 18119173: 18119174
41 MYO15A NM_016239.3(MYO15A): c.373_374delCG (p.Arg125Valfs) deletion no interpretation for the single variant rs878853239 GRCh37 Chromosome 17, 18022487: 18022488
42 MYO15A NM_016239.3(MYO15A): c.6340G> A (p.Val2114Met) single nucleotide variant Pathogenic rs377385081 GRCh38 Chromosome 17, 18145938: 18145938
43 MYO15A NM_016239.3(MYO15A): c.6340G> A (p.Val2114Met) single nucleotide variant Pathogenic rs377385081 GRCh37 Chromosome 17, 18049252: 18049252
44 MYO15A NM_016239.3(MYO15A): c.7207G> T (p.Asp2403Tyr) single nucleotide variant Pathogenic rs878853227 GRCh38 Chromosome 17, 18149575: 18149575
45 MYO15A NM_016239.3(MYO15A): c.7207G> T (p.Asp2403Tyr) single nucleotide variant Pathogenic rs878853227 GRCh37 Chromosome 17, 18052889: 18052889
46 MYO15A NM_016239.3(MYO15A): c.8340G> A (p.Thr2780=) single nucleotide variant Pathogenic rs878853228 GRCh38 Chromosome 17, 18155225: 18155225
47 MYO15A NM_016239.3(MYO15A): c.8340G> A (p.Thr2780=) single nucleotide variant Pathogenic rs878853228 GRCh37 Chromosome 17, 18058539: 18058539
48 MYO15A NM_016239.3(MYO15A): c.8467G> A (p.Asp2823Asn) single nucleotide variant Pathogenic rs878853238 GRCh38 Chromosome 17, 18156202: 18156202
49 MYO15A NM_016239.3(MYO15A): c.8467G> A (p.Asp2823Asn) single nucleotide variant Pathogenic rs878853238 GRCh37 Chromosome 17, 18059516: 18059516
50 MYO15A NC_000017.1 insertion Pathogenic

Expression for Deafness, Autosomal Recessive 3

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 3.

Pathways for Deafness, Autosomal Recessive 3

Pathways related to Deafness, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.17 MYO15A MYO7A

GO Terms for Deafness, Autosomal Recessive 3

Cellular components related to Deafness, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 8.96 MYO15A MYO7A
2 stereocilium GO:0032420 8.62 MYO15A MYO7A

Biological processes related to Deafness, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.26 MYO15A MYO7A
2 inner ear morphogenesis GO:0042472 9.16 MYO15A MYO7A
3 inner ear development GO:0048839 8.96 GJB2 MYO7A
4 sensory perception of sound GO:0007605 8.8 GJB2 MYO15A MYO7A

Molecular functions related to Deafness, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.16 MYO15A MYO7A
2 microtubule motor activity GO:0003777 8.96 MYO15A MYO7A
3 motor activity GO:0003774 8.62 MYO15A MYO7A

Sources for Deafness, Autosomal Recessive 3

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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