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congenital nongoitrous hypothyroidism 7
Summary
- Synonym
-
- CHNG7
- TRH resistance syndrome
- central hypothyroidism due to TRH receptor deficiency
- resistance to thyrotropin-releasing hormone syndrome
- Definition
- A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1.
- Super Class
- autosomal recessive disease congenital hypothyroidism
External Links
- Disease Ontology
- DOID:0111836
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
