MCID: DFN346
MIFTS: 7

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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
deafness, neural, congenital moderate:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 221500
MedGen 42 C1857337
SNOMED-CT via HPO 69 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

Symptoms via clinical synopsis from OMIM:

57
Ears:
congenital hearing loss
neural hearing loss


Clinical features from OMIM:

221500

Human phenotypes related to Deafness, Neural, Congenital Moderate:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

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 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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