thyroid dyshormonogenesis 4

Term ID

DOID:0112188

Synonyms

• deiodinase deficiency
• genetic defect in thyroid hormonogenesis 4
• iodotyrosine dehalogenase deficiency
• TDH4

Definition

A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. https://pubmed.ncbi.nlm.nih.gov/18434651/

References

• MESH:C562770
• OMIM:274800

Ontology

Human Disease   ( DOID:0112188 )