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
• NCI:C121745
• OMIM:274600
• ORDO:705
• SNOMEDCT_US_2023_03_01:70348004
• UMLS_CUI:C0271829

Ontology

Human Disease   ( DOID:0060744 )