Term Name: | Pendred Syndrome |
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Synonyms: | congenital hypothyroidism due to dyshormonogenesis 2B, deafness with goiter, genetic defect in thyroid hormonogenesis 2B, goiter-deafness syndrome, TDH2B, thyroid dyshormonogenesis 2B |
Definition: | A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. |
Ontology: | Human Disease [DOID:0060744] ( DOID:0060744 ) |