Deafness, Autosomal Dominant 17 malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Fetal diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Dominant 17:
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Ear diseases, Neuronal diseases, Cardiovascular diseases
Disease Ontology:11 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has material basis in mutation in the MYH9 gene on chromosome 22q12.
MalaCards based summary: Deafness, Autosomal Dominant 17, also known as dfna17, is related to cochleosaccular degeneration with progressive cataracts and cochleosaccular degeneration of the inner ear and progressive cataracts, and has symptoms including high-frequency hearing impairment An important gene associated with Deafness, Autosomal Dominant 17 is MYH9 (Myosin Heavy Chain 9).
UniProtKB/Swiss-Prot:69 Deafness, autosomal dominant, 17: A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration.
Description from OMIM:51 603622
Search GEO for disease gene expression data for Deafness, Autosomal Dominant 17.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet