About   Help   FAQ
Disease Ontology Browser
Pendred Syndrome (DOID:0060744)
Alliance: disease page
Synonyms: congenital hypothyroidism due to dyshormonogenesis 2B; deafness with goiter; genetic defect in thyroid hormonogenesis 2B; goiter-deafness syndrome; TDH2B; thyroid dyshormonogenesis 2B
Alt IDs: OMIM:274600, ICD10CM:E07.1, MESH:C536648, NCI:C121745, ORDO:705, UMLS_CUI:C0271829
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.

Disease References using Mouse Models (10)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory