OBO ID: DOID:0060744
Term Name: Pendred Syndrome Search Ontology:
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
  • NCI:C121745
  • OMIM:274600
  • ORDO:705
  • SNOMEDCT_US_2023_03_01:70348004
  • UMLS_CUI:C0271829
Ontology: Human Disease   ( DOID:0060744 )
Relationships
is a type of:
OTHER Pendred Syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC26A4 Pendred syndrome 274600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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