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Disease Ontology Browser
Pendred Syndrome (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
Alt IDs: OMIM:274600, ICD10CM:E07.1, MESH:C536648, ORDO:705, UMLS_CUI:C0271829
Definition: An autosomal recessive disease 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 (8)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory