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Autosomal Recessive Nonsyndromic Deafness 57

Disease ID: disease_node_14973

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DbxrefMIM:618003
SubclassofDOID_0050565
Data SourceDOID
SynonymsDFNB57, autosomal recessive deafness 57
Doid Labelautosomal recessive nonsyndromic deafness 57
Doid DescriptionAn autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31.
Disease Node Iddisease_node_14973
Doid IdDOID_0111635
LabelAutosomal Recessive Nonsyndromic Deafness 57