Details of Disease

General Information of Disease (ID: DISKNW8N)

Disease Name Hearing loss, autosomal recessive 111
Synonyms deafness, autosomal recessive 111; DFNB111
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISKNW8N: Hearing loss, autosomal recessive 111
Disease Identifiers
MONDO ID
MONDO_0029142
UMLS CUI
C4748374
OMIM ID
618145
MedGen ID
1648423

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
MPZL2 OTKFNDUI Definitive 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.