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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: congenital hypothyroidism due to dyshormonogenesis 2B, deafness with goiter, genetic defect in thyroid hormonogenesis 2B, goiter-deafness syndrome, TDH2B, thyroid dyshormonogenesis 2B
Xenbase Genes
:
foxi1,
slc26a4.3,
kcnj10,
slc26a4.1,
slc26a4.2
| MONDO:0010134 - Pendred syndrome |
Other Model Organisms: Alliance, 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)