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Summary Literature (4)
DOID:0060744 - Pendred Syndrome


Disease Ontology 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.

Synonyms: TDH2B, congenital hypothyroidism due to dyshormonogenesis 2B, deafness with goiter, genetic defect in thyroid hormonogenesis 2B, goiter-deafness syndrome, thyroid dyshormonogenesis 2B

Xenbase Genes : foxi1, slc26a4.3, kcnj10, slc26a4.1, slc26a4.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010134 - Pendred syndrome

OMIM:
OMIM:274600 - PENDRED SYNDROME; PDS

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)