Term Name: | thyroid dyshormonogenesis 2A |
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Synonyms: | genetic defect in thyroid hormonogenesis 2A, iodide peroxidase deficiency, TDH2A, thyroid peroxidase deficiency |
Definition: | A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. |
Ontology: | Human Disease [DOID:0112186] ( DOID:0112186 ) |