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Autosomal Domit Nonsyndromic Deafness 33

Disease ID: disease_node_15094

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DbxrefICD10CM:H90.3, MIM:614211
SubclassofDOID_0050564
Data SourceDOID
SynonymsDFNA33, autosomal dominant deafness 33
Doid Labelautosomal domit nonsyndromic deafness 33
Doid DescriptionAn autosomal domit nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34. Variation in ATP11A, which resides in the chromosome region linked to this disease, 13q34, has been shown to cause autosomal domit nonsyndromic deafness but evidence does not support it as the cause of this subtype. Reassessment of the haplotype for this disease has suggested that the locus may be inaccurate [JAB].
Disease Node Iddisease_node_15094
Doid IdDOID_0110562
LabelAutosomal Domit Nonsyndromic Deafness 33