MCID: XLN004
MIFTS: 18

X-Linked Nonsyndromic Deafness

Categories: Ear diseases, Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases

Aliases & Classifications for X-Linked Nonsyndromic Deafness

MalaCards integrated aliases for X-Linked Nonsyndromic Deafness:

Name: X-Linked Nonsyndromic Deafness 12 15
Deafness, X-Linked 37 29 6 40
X-Linked Deafness 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050566
ICD10 33 H90.3
KEGG 37 H01209

Summaries for X-Linked Nonsyndromic Deafness

Disease Ontology : 12 A nonsyndromic deafness characterized by an X-linked inheritance mode.

MalaCards based summary : X-Linked Nonsyndromic Deafness, also known as deafness, x-linked, is related to deafness, x-linked 2 and mental retardation, x-linked, syndromic, martin-probst type. An important gene associated with X-Linked Nonsyndromic Deafness is SMPX (Small Muscle Protein X-Linked).

Related Diseases for X-Linked Nonsyndromic Deafness

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



Diseases related to X-Linked Nonsyndromic Deafness

Symptoms & Phenotypes for X-Linked Nonsyndromic Deafness

Drugs & Therapeutics for X-Linked Nonsyndromic Deafness

Search Clinical Trials , NIH Clinical Center for X-Linked Nonsyndromic Deafness

Genetic Tests for X-Linked Nonsyndromic Deafness

Genetic tests related to X-Linked Nonsyndromic Deafness:

# Genetic test Affiliating Genes
1 Deafness, X-Linked 29

Anatomical Context for X-Linked Nonsyndromic Deafness

Publications for X-Linked Nonsyndromic Deafness

Articles related to X-Linked Nonsyndromic Deafness:

# Title Authors Year
1
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. ( 16365218 )
2005

Variations for X-Linked Nonsyndromic Deafness

ClinVar genetic disease variations for X-Linked Nonsyndromic Deafness:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMPX NG_031916.1: c.87dupA duplication Pathogenic

Expression for X-Linked Nonsyndromic Deafness

Search GEO for disease gene expression data for X-Linked Nonsyndromic Deafness.

Pathways for X-Linked Nonsyndromic Deafness

GO Terms for X-Linked Nonsyndromic Deafness

Sources for X-Linked Nonsyndromic Deafness

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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