Details of Disease

General Information of Disease (ID: DISL21UN)

Disease Name Hearing loss, autosomal recessive 57
Synonyms deafness, autosomal recessive 57; DFNB57; hearing loss, autosomal recessive 57
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISL21UN: Hearing loss, autosomal recessive 57
Disease Identifiers
MONDO ID
MONDO_0033201
UMLS CUI
C4693893
OMIM ID
618003
MedGen ID
1631180

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
PDZD7 OTX3VAOB Strong Autosomal recessive [1]
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References

1 Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. Hum Mol Genet. 2009 Feb 15;18(4):655-66. doi: 10.1093/hmg/ddn395. Epub 2008 Nov 20.