OBO ID: DOID:0112185
Term Name: thyroid dyshormonogenesis 1 Search Ontology:
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)
OTHER thyroid dyshormonogenesis 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC5A5 Thyroid dyshormonogenesis 1 274400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None