thyroid dyshormonogenesis 1

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc5a5

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)