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Human Disease

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
Ontology
Human Disease   ( DOID:0112185 )
Relationships
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Genes Involved
Zebrafish Models