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MIRAGE
congenital nongoitrous hypothyroidism 2
Summary
- Synonym
-
- CHNG2
- congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
- Definition
- A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.
- Super Class
- autosomal dominant disease congenital hypothyroidism
External Links
- Disease Ontology
- DOID:0070124
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06710 | Paired box protein Pax-8 |
