MCID: NNS007
MIFTS: 35

Nonsyndromic Deafness

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

Aliases & Classifications for Nonsyndromic Deafness

MalaCards integrated aliases for Nonsyndromic Deafness:

Name: Nonsyndromic Deafness 74 29 6 17 71
Deafness, Nonsyndromic 39

Classifications:



External Ids:

UMLS 71 C3711374

Summaries for Nonsyndromic Deafness

MalaCards based summary : Nonsyndromic Deafness, also known as deafness, nonsyndromic, is related to autosomal recessive nonsyndromic deafness 3 and deafness, autosomal recessive 8. An important gene associated with Nonsyndromic Deafness is COL11A2 (Collagen Type XI Alpha 2 Chain). Affiliated tissues include testes, skin and retina, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 74 Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast,... more...

Related Diseases for Nonsyndromic Deafness

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 Nonsyndromic Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 238)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 3 33.7 MYO15A LRTOMT GJB2
2 deafness, autosomal recessive 8 33.3 MYO15A GJB2
3 deafness, autosomal dominant 2a 33.2 KCNQ4 GJB2
4 deafness, autosomal recessive 63 33.2 MYO15A LRTOMT
5 deafness, autosomal recessive 49 33.2 MYO15A GJB2
6 deafness, autosomal recessive 79 33.2 MYO15A GJB2
7 deafness, autosomal dominant 17 33.2 MYO15A MYH9 KCNQ4
8 deafness, autosomal dominant 2b 33.1 KCNQ4 GJB2
9 deafness, autosomal dominant 64 33.1 KCNQ4 GJB2
10 deafness, autosomal recessive 93 33.1 LRTOMT GJB2
11 deafness, autosomal recessive 18a 33.1 PCDH15 MYO15A
12 deafness, autosomal dominant 41 33.1 KCNQ4 GJB2
13 deafness, autosomal recessive 1a 33.0 KCNQ4 GJB2
14 deafness, autosomal recessive 30 33.0 PCDH15 MYO15A
15 deafness, autosomal recessive 9 33.0 MYO15A GJB2
16 deafness, autosomal dominant 1 33.0 WFS1 MYO15A GJB2
17 deafness, autosomal recessive 35 32.9 MYO15A LRTOMT
18 deafness, autosomal recessive 7 32.9 MYO15A LRTOMT GJB2
19 deafness, autosomal recessive 23 32.9 PCDH15 MYO15A
20 deafness, autosomal recessive 1b 32.9 MYO15A GJB2
21 deafness, autosomal recessive 67 32.9 PCDH15 LRTOMT
22 deafness, autosomal recessive 24 32.9 MYO15A LRTOMT
23 deafness, autosomal recessive 2 32.7 PCDH15 MYO15A GJB2
24 autosomal recessive nonsyndromic deafness 32.7 PCDH15 OTOG MYO15A LRTOMT GJB2
25 deafness, autosomal dominant 36 32.7 PCDH15 MYO15A GJB2
26 deafness, autosomal recessive 12 32.7 PCDH15 MYO15A GJB2
27 deafness, autosomal dominant 12 32.6 OTOG COL11A2
28 deafness, autosomal dominant 44 32.6 KCNQ4 COL11A2
29 deafness, autosomal dominant 13 32.6 KCNQ4 COL11A2
30 deafness, autosomal recessive 84b 32.5 OTOG COL11A2
31 deafness, autosomal dominant 15 32.5 KCNQ4 COL11A2
32 deafness, autosomal dominant 10 32.5 KCNQ4 COL11A2
33 deafness, autosomal recessive 16 32.4 PCDH15 MYO15A GJB2
34 deafness, autosomal dominant 11 32.4 PCDH15 MYO15A GJB2
35 deafness, autosomal recessive 66 32.3 DCDC2 COL11A2
36 deafness, autosomal dominant 9 32.2 WFS1 KCNQ4 GJB2 COL11A2
37 deafness, autosomal recessive 53 32.2 OTOG LRTOMT COL11A2
38 deafness, autosomal dominant 6 32.1 WFS1 KCNQ4 GJB2 COL11A2
39 y-linked deafness 32.0 PCDH15 KCNQ4
40 deafness, autosomal recessive 21 31.7 OTOG MYO15A GJB2 COL11A2
41 nonsyndromic hearing loss 31.3 WFS1 PCDH15 MYO15A KCNQ4 GJB2
42 autosomal dominant nonsyndromic deafness 31.2 WFS1 PCDH15 OTOG MYO15A MYH9 KCNQ4
43 branchiootic syndrome 1 31.1 OTOG GJB2
44 dfnb1 30.5 PCDH15 GJB2
45 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 30.4 PCDH15 MYO15A KCNQ4 GJB2 COL11A2
46 usher syndrome, type i 30.2 PCDH15 MYO15A GJB2
47 deafness, autosomal recessive 3 30.1 MYO15A GJB2
48 usher syndrome 30.0 PCDH15 MYO15A MYH9 GJB2
49 usher syndrome, type if 29.9 PCDH15 MYO15A
50 pendred syndrome 29.4 MYO15A MITF GJB2

Graphical network of the top 20 diseases related to Nonsyndromic Deafness:



Diseases related to Nonsyndromic Deafness

Symptoms & Phenotypes for Nonsyndromic Deafness

MGI Mouse Phenotypes related to Nonsyndromic Deafness:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 COL11A2 DCDC2 LRTOMT MITF MYO15A OTOG
2 growth/size/body region MP:0005378 9.76 COL11A2 GJB2 LRTOMT MITF MYH9 MYO15A
3 hearing/vestibular/ear MP:0005377 9.61 COL11A2 GJB2 KCNQ4 LRTOMT MITF MYH9
4 nervous system MP:0003631 9.28 DCDC2 GJB2 KCNQ4 LRTOMT MITF MYH9

Drugs & Therapeutics for Nonsyndromic Deafness

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan Recruiting NCT00341874

Search NIH Clinical Center for Nonsyndromic Deafness

Genetic Tests for Nonsyndromic Deafness

Genetic tests related to Nonsyndromic Deafness:

# Genetic test Affiliating Genes
1 Nonsyndromic Deafness 29

Anatomical Context for Nonsyndromic Deafness

MalaCards organs/tissues related to Nonsyndromic Deafness:

40
Testes, Skin, Retina

Publications for Nonsyndromic Deafness

Articles related to Nonsyndromic Deafness:

(show top 50) (show all 259)
# Title Authors PMID Year
1
The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss. 61
32428919 2020
2
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness. 61
31972369 2020
3
Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness. 61
32048449 2020
4
Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39. 61
32152201 2020
5
Functions of Vertebrate Ferlins. 61
32106631 2020
6
Tprn is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice. 61
30159668 2019
7
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. 61
31116475 2019
8
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. 61
30245510 2019
9
Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B. 61
30826590 2019
10
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. 61
30245514 2019
11
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators. 61
30556268 2019
12
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. 61
30461122 2019
13
Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers. 61
31390618 2019
14
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss. 61
30610177 2019
15
Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder. 61
30368385 2018
16
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss. 61
30413759 2018
17
Aminoglycoside-associated nonsyndromic deafness and speech disorder in mitochondrial A1555G mutation in a family: A case report. 61
30335006 2018
18
[Analysis of audiological characteristics and genetic background in patients with nonsyndromic deafness and mitochondrial DNA 1555A>G mutation]. 61
30298482 2018
19
Structural plasticity of the HHD2 domain of whirlin. 61
30053338 2018
20
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations. 61
30169122 2018
21
Chronic prenatal hypoxia impairs cochlear development, a mechanism involving connexin26 expression and promoter methylation. 61
29207085 2018
22
Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis. 61
29568747 2018
23
A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. 61
29849566 2018
24
Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear. 61
30123247 2018
25
Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss. 61
29016196 2017
26
Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts. 61
28934385 2017
27
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 61
28944237 2017
28
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss. 61
28271504 2017
29
Mutation analysis of common GJB2, SCL26A4 and 12S rRNA genes among 380 deafness patients in northern China. 61
28583500 2017
30
Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice. 61
29255404 2017
31
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9. 61
28099493 2017
32
Noninvasive Test for Mitochondrial DNA A1555G Mutation Associated with Deafness. 61
28164482 2017
33
[Autosomal dominant hearing loss resulting from mutation in the GJB2 gene:nonsyndromic presentation in a Chinese family]. 61
29798269 2016
34
Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice. 61
27693694 2016
35
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. 61
27375115 2016
36
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants. 61
26752218 2016
37
CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 61
27494218 2016
38
Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes. 61
27176802 2016
39
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. 61
27259055 2016
40
Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry. 61
27230773 2016
41
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 61
26226137 2016
42
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. 61
26173970 2016
43
Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice. 61
26748055 2016
44
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. 61
26631968 2016
45
NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness. 61
27965898 2016
46
Auditory Pathology in a Transgenic mtTFB1 Mouse Model of Mitochondrial Deafness. 61
26552864 2015
47
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily. 61
26096904 2015
48
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing. 61
26029705 2015
49
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. 61
25807530 2015
50
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations. 61
25557349 2015

Variations for Nonsyndromic Deafness

ClinVar genetic disease variations for Nonsyndromic Deafness:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL11A2 NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser)SNV Pathogenic 160366 rs606231410 6:33157220-33157220 6:33189443-33189443
2 DCDC2 NM_016356.5(DCDC2):c.1271A>C (p.Gln424Pro)SNV Pathogenic 161160 rs794729665 6:24178613-24178613 6:24178385-24178385
3 PCDH15 NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)duplication Likely pathogenic 432938 rs774056663 10:55583016-55583017 10:53823256-53823257
4 GJB2 NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)SNV Conflicting interpretations of pathogenicity 44755 rs34988750 13:20763243-20763243 13:20189104-20189104
5 GJB2 NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)SNV Uncertain significance 437829 rs765921870 13:20763456-20763456 13:20189317-20189317
6 MITF NM_001354604.2(MITF):c.1031C>T (p.Pro344Leu)SNV Uncertain significance 800541 3:70005681-70005681 3:69956530-69956530

Expression for Nonsyndromic Deafness

Search GEO for disease gene expression data for Nonsyndromic Deafness.

Pathways for Nonsyndromic Deafness

GO Terms for Nonsyndromic Deafness

Cellular components related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 8.96 MYO15A MYH9
2 stereocilium GO:0032420 8.62 PCDH15 MYO15A

Biological processes related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.28 WFS1 PCDH15 OTOG MYO15A LRTOMT KCNQ4
2 inner ear development GO:0048839 8.96 PCDH15 GJB2

Molecular functions related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microfilament motor activity GO:0000146 9.16 MYO15A MYH9
2 actin-dependent ATPase activity GO:0030898 8.96 MYO15A MYH9
3 calmodulin binding GO:0005516 8.92 WFS1 MYO15A MYH9 KCNQ4

Sources for Nonsyndromic Deafness

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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