| Metadata | |
|---|---|
| ID | DOID:0070124 |
| Name | congenital nongoitrous hypothyroidism 2 |
| Definition | A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. https://www.ncbi.nlm.nih.gov/pubmed/9590296 |
| Xrefs | |
| Synonyms |
CHNG2 [EXACT] congenital hypothyroidism due to thyroid dysgenesis or hypoplasia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |