Metadata | |
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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 |