| Metadata | |
|---|---|
| ID | DOID:0112186 |
| Name | thyroid dyshormonogenesis 2A |
| 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/ |
| Xrefs | |
| Synonyms |
genetic defect in thyroid hormonogenesis 2A [EXACT] iodide peroxidase deficiency [EXACT] TDH2A [EXACT] thyroid peroxidase deficiency [EXACT] |
| Parent Relationships |