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DO Term : Pendred Syndrome [DOID:0060744] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • goiter-deafness syndrome,
  • SNOMEDCT_US_2023_03_01:70348004,
  • ORDO:705,
  • ICD10CM:E07.1,
  • thyroid dyshormonogenesis 2B,
  • MESH:C536648,
  • NCI:C121745,
  • deafness with goiter,
  • OMIM:274600,
  • UMLS_CUI:C0271829,
  • genetic defect in thyroid hormonogenesis 2B,
  • congenital hypothyroidism due to dyshormonogenesis 2B,
  • 274600,
  • GARD:4271,
  • TDH2B
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Ontology Term --> Direct children

Ontology Term --> Direct parents