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Autosomal Domit Nonsyndromic Deafness 88

Disease ID: disease_node_15117

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DbxrefMIM:620283
SubclassofDOID_0050564
Data SourceDOID
SynonymsDFNA88, autosomal dominant deafness 88
Doid Labelautosomal domit nonsyndromic deafness 88
Doid DescriptionAn autosomal domit nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34. Only one family reported as of 2024-09-20.
Disease Node Iddisease_node_15117
Doid IdDOID_0070611
LabelAutosomal Domit Nonsyndromic Deafness 88