OBO ID: DOID:0112186
Term Name: thyroid dyshormonogenesis 2A Search Ontology:
Synonyms:
  • genetic defect in thyroid hormonogenesis 2A
  • iodide peroxidase deficiency
  • TDH2A
  • thyroid peroxidase deficiency
Definition: A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. https://pubmed.ncbi.nlm.nih.gov/1401057/
References:
Ontology: Human Disease   (DOID:0112186)
OTHER thyroid dyshormonogenesis 2A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TPO Thyroid dyshormonogenesis 2A 274500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None