| Metadata | |
|---|---|
| ID | DOID:0112185 |
| Name | thyroid dyshormonogenesis 1 |
| 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/ |
| Xrefs | |
| Synonyms |
genetic defect in thyroid hormonogenesis 1 [EXACT] iodide accumulation, transport, or trapping defect [EXACT] TDH1 [EXACT] |
| Parent Relationships |