thyroid dyshormonogenesis 1

Term ID

DOID:0112185

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. https://pubmed.ncbi.nlm.nih.gov/9171822/

References

• MESH:C564766
• OMIM:274400

Ontology

Human Disease   ( DOID:0112185 )