| Metadata | |
|---|---|
| ID | DOID:0111835 |
| Name | congenital nongoitrous hypothyroidism 9 |
| Definition | A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. https://www.ncbi.nlm.nih.gov/pubmed/30061370 |
| Xrefs | |
| Synonyms |
CHNG9 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance disease has basis in some Abnormality of prenatal development or birth |