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Summary Literature (0)
DOID:0112185 - thyroid dyshormonogenesis 1

Disease Ontology Definition:A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.

Synonyms: genetic defect in thyroid hormonogenesis 1, iodide accumulation, transport, or trapping defect, TDH1

Xenbase Genes : slc5a5


MIM:
MIM:274400 - THYROID DYSHORMONOGENESIS 1; TDH1

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), familial thyroid dyshormonogenesis (is_a)