Details of Disease

General Information of Disease (ID: DISS3787)

Disease Name Hearing loss, autosomal dominant 79
Synonyms deafness, autosomal dominant 79; DFNA79
Disease Hierarchy
DISYC1G0: Autosomal dominant nonsyndromic hearing loss
DISS3787: Hearing loss, autosomal dominant 79
Disease Identifiers
MONDO ID
MONDO_0033668
UMLS CUI
C5436772
OMIM ID
619086
MedGen ID
1735338

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
SCD5 OTSSUQ3Z Limited Unknown [1]
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References

1 A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech. Am J Med Genet A. 2016 Aug;170(8):2089-96. doi: 10.1002/ajmg.a.37754. Epub 2016 Jun 10.