OBO ID: DOID:0111836 |
Term Name: | congenital nongoitrous hypothyroidism 7 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111836 ) |
OTHER congenital nongoitrous hypothyroidism 7 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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