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congenital nongoitrous hypothyroidism 9
Summary
- Synonym
-
- CHNG9
- 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.
- Super Class
- X-linked recessive disease congenital hypothyroidism
External Links
- Disease Ontology
- DOID:0111835
- Mondo Disease Ontology
- OMIM
