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Autosomal Recessive Nonsyndromic Deafness 115

Disease ID: disease_node_14965

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DbxrefMIM:618457
SubclassofDOID_0050565
Data SourceDOID
SynonymsDFNB115, autosomal recessive deafness 115
Doid Labelautosomal recessive nonsyndromic deafness 115
Doid DescriptionAn autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2.
Disease Node Iddisease_node_14965
Doid IdDOID_0111643
LabelAutosomal Recessive Nonsyndromic Deafness 115