thyroid dyshormonogenesis 6

Term ID

DOID:0112189

Synonyms

• genetic defect in thyroid hormonogenesis 6
• TDH6

Definition

A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. https://pubmed.ncbi.nlm.nih.gov/12110737/

References

• MESH:C564608
• OMIM:607200

Ontology

Human Disease   ( DOID:0112189 )