Details of Disease | DrugMAP

General Information of Disease (ID: DIS7HMS8)

Disease Name	Autosomal recessive nonsyndromic hearing loss 67
Synonyms	autosomal recessive nonsyndromic deafness 67; deafness, autosomal recessive 67; deafness, autosomal recessive type 67; DFNB67; LHFPL5 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5; autosomal recessive deafness 67; autosomal recessive nonsyndromic deafness type 67; autosomal recessive nonsyndromic hearing loss 67
Definition	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.
Disease Hierarchy	DIS8G9R9: Hearing loss, autosomal recessive DIS7HMS8: Autosomal recessive nonsyndromic hearing loss 67
Disease Identifiers	MONDO ID MONDO_0012460 MESH ID C565207 UMLS CUI C1853223 OMIM ID 610265 MedGen ID 343997

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
LHFPL5	OTNDTO5B	Strong	Autosomal recessive	[1]
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References

1	Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. J Med Genet. 2006 Aug;43(8):634-40. doi: 10.1136/jmg.2005.039834. Epub 2006 Feb 3.