Term Name: | thyroid dyshormonogenesis 5 |
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Synonyms: | genetic defect in thyroid hormonogenesis 5, TDH5 |
Definition: | A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. |
Ontology: | Human Disease [DOID:0112184] ( DOID:0112184 ) |