Search Ontology:
Human Disease

Pendred Syndrome

Term ID
DOID:0060744
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. https://www.ncbi.nlm.nih.gov/pubmed/9398842
References
  • GARD:4271
  • ICD10CM:E07.1
  • MESH:C536648
  • MIM:274600
  • NCI:C121745
  • ORDO:705
  • SNOMEDCT_US_2023_03_01:70348004
  • UMLS_CUI:C0271829
Ontology
Human Disease   ( DOID:0060744 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models