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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)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory