DFNX3
MCID: DFN146
MIFTS: 17

Deafness, X-Linked 3 (DFNX3)

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

Aliases & Classifications for Deafness, X-Linked 3

MalaCards integrated aliases for Deafness, X-Linked 3:

Name: Deafness, X-Linked 3 58 13 74
Deafness, X-Linked 4, Congenital Sensorineural; Dfn4 58
Deafness, X-Linked 4, Congenital Sensorineural 58
Dfnx3 58
Dfn4 58

Characteristics:

OMIM:

58
Inheritance:
x-linked form


HPO:

33
deafness, x-linked 3:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 300030
MedGen 43 C3888089
SNOMED-CT via HPO 70 27394002 700453005
UMLS 74 C3888089

Summaries for Deafness, X-Linked 3

MalaCards based summary : Deafness, X-Linked 3, also known as deafness, x-linked 4, congenital sensorineural; dfn4, is related to deafness, x-linked 4 and cone-rod dystrophy and hearing loss 2. An important gene associated with Deafness, X-Linked 3 is DFNX3 (Deafness, X-Linked 3). Related phenotype is congenital sensorineural hearing impairment.

Description from OMIM: 300030

Related Diseases for Deafness, X-Linked 3

Graphical network of the top 20 diseases related to Deafness, X-Linked 3:



Diseases related to Deafness, X-Linked 3

Symptoms & Phenotypes for Deafness, X-Linked 3

Human phenotypes related to Deafness, X-Linked 3:

33
# Description HPO Frequency HPO Source Accession
1 congenital sensorineural hearing impairment 33 HP:0008527

Symptoms via clinical synopsis from OMIM:

58
Ears:
congenital severe sensorineural hearing loss

Misc:
mild delayed manifestation in carrier females

Clinical features from OMIM:

300030

Drugs & Therapeutics for Deafness, X-Linked 3

Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 3

Genetic Tests for Deafness, X-Linked 3

Anatomical Context for Deafness, X-Linked 3

Publications for Deafness, X-Linked 3

Variations for Deafness, X-Linked 3

Expression for Deafness, X-Linked 3

Search GEO for disease gene expression data for Deafness, X-Linked 3.

Pathways for Deafness, X-Linked 3

GO Terms for Deafness, X-Linked 3

Sources for Deafness, X-Linked 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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