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thyroid dyshormonogenesis 1
Summary
- Synonym
-
- TDH1
- genetic defect in thyroid hormonogenesis 1
- iodide accumulation, transport, or trapping defect
- Definition
- A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.
- Super Class
- autosomal recessive disease familial thyroid dyshormonogenesis
External Links
- Disease Ontology
- DOID:0112185
- Mondo Disease Ontology
- MeSH
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q92911 | Sodium/iodide cotransporter |
