Term Name: | thyroid dyshormonogenesis 1 |
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Synonyms: | genetic defect in thyroid hormonogenesis 1, iodide accumulation, transport, or trapping defect, TDH1 |
Definition: | A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. |
Ontology: | Human Disease [DOID:0112185] ( DOID:0112185 ) |