MCID: DFN146
MIFTS: 11

Deafness, X-Linked 3

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

Aliases & Classifications for Deafness, X-Linked 3

MalaCards integrated aliases for Deafness, X-Linked 3:

Name: Deafness, X-Linked 3 54 13

Characteristics:

OMIM:

54
Inheritance:
x-linked form


HPO:

32
deafness, x-linked 3:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300030
SNOMED-CT via HPO 65 700453005

Summaries for Deafness, X-Linked 3

MalaCards based summary : Deafness, X-Linked 3 and has symptoms including congenital sensorineural hearing impairment An important gene associated with Deafness, X-Linked 3 is DFNX3 (Deafness, X-Linked 3).

Description from OMIM: 300030

Related Diseases for Deafness, X-Linked 3

Symptoms & Phenotypes for Deafness, X-Linked 3

Symptoms via clinical synopsis from OMIM:

54

Ears:
congenital severe sensorineural hearing loss

Misc:
mild delayed manifestation in carrier females


Clinical features from OMIM:

300030

Human phenotypes related to Deafness, X-Linked 3:

32
id Description HPO Frequency HPO Source Accession
1 congenital sensorineural hearing impairment 32 HP:0008527

Drugs & Therapeutics for Deafness, X-Linked 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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