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Autosomal Domit Nonsyndromic Deafness 5

Disease ID: disease_node_15081

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DbxrefICD10CM:H90.3, MIM:600994
SubclassofDOID_0050564
Data SourceDOID
SynonymsDFNA5, autosomal dominant deafness 5
Doid Labelautosomal domit nonsyndromic deafness 5
Doid DescriptionAn autosomal domit nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15.
Disease Node Iddisease_node_15081
Doid IdDOID_0110575
LabelAutosomal Domit Nonsyndromic Deafness 5