MCID: DFN346
MIFTS: 6

Deafness, Neural, Congenital Moderate

Categories: Ear diseases

Aliases & Classifications for Deafness, Neural, Congenital Moderate

MalaCards integrated aliases for Deafness, Neural, Congenital Moderate:

Name: Deafness, Neural, Congenital Moderate 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
deafness, neural, congenital moderate:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 221500
MedGen 43 C1857337
SNOMED-CT via HPO 70 258211005 60700002

Summaries for Deafness, Neural, Congenital Moderate

MalaCards based summary : Deafness, Neural, Congenital Moderate Related phenotype is sensorineural hearing impairment.

Description from OMIM: 221500

Related Diseases for Deafness, Neural, Congenital Moderate

Symptoms & Phenotypes for Deafness, Neural, Congenital Moderate

Human phenotypes related to Deafness, Neural, Congenital Moderate:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407

Symptoms via clinical synopsis from OMIM:

58
Ears:
congenital hearing loss
neural hearing loss

Clinical features from OMIM:

221500

Drugs & Therapeutics for Deafness, Neural, Congenital Moderate

Search Clinical Trials , NIH Clinical Center for Deafness, Neural, Congenital Moderate

Genetic Tests for Deafness, Neural, Congenital Moderate

Anatomical Context for Deafness, Neural, Congenital Moderate

Publications for Deafness, Neural, Congenital Moderate

Variations for Deafness, Neural, Congenital Moderate

Expression for Deafness, Neural, Congenital Moderate

Search GEO for disease gene expression data for Deafness, Neural, Congenital Moderate.

Pathways for Deafness, Neural, Congenital Moderate

GO Terms for Deafness, Neural, Congenital Moderate

Sources for Deafness, Neural, Congenital Moderate

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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