Details of Disease

General Information of Disease (ID: DISBYEVE)

Disease Name Autosomal recessive nonsyndromic hearing loss 66
Synonyms
DFNB66; DCDC2 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness caused by mutation in DCDC2; autosomal recessive nonsyndromic deafness type 66; autosomal recessive deafness 66; autosomal recessive nonsyndromic deafness 66; deafness, autosomal recessive 66; deafness, autosomal recessive type 66
Definition Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISBYEVE: Autosomal recessive nonsyndromic hearing loss 66
Disease Identifiers
MONDO ID
MONDO_0012442
MESH ID
C565701
UMLS CUI
C1857750
OMIM ID
610212
MedGen ID
346659

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DCDC2 OTSUFH1H Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.