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thyroid dyshormonogenesis 5
Summary
- Synonym
-
- TDH5
- genetic defect in thyroid hormonogenesis 5
- Definition
- A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1.
- Super Class
- autosomal recessive disease familial thyroid dyshormonogenesis
External Links
- Disease Ontology
- DOID:0112184
- Mondo Disease Ontology
- MeSH
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q1HG44 | Dual oxidase maturation factor 2 |
