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 |