| Metadata | |
|---|---|
| ID | DOID:0111836 |
| Name | congenital nongoitrous hypothyroidism 7 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/9141550 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
central hypothyroidism due to TRH receptor deficiency [EXACT] CHNG7 [EXACT] resistance to thyrotropin-releasing hormone syndrome [EXACT] TRH resistance syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |