Search Ontology:
Human Disease
thyroid dyshormonogenesis 1
- Term ID
- DOID:0112185
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models