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General Information
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| Term |
congenital nongoitrous hypothyroidism 7 |
ID (Ontology) |
DOID:0111836 (Human Disease) |
| 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. |
| Also Known As |
"central hypothyroidism due to TRH receptor deficiency" ; "CHNG7" ; "resistance to thyrotropin-releasing hormone syndrome" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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congenital nongoitrous hypothyroidism 7 | 1 | for disease ribbon | congenital nongoitrous hypothyroidism 7 | 1 | model of | congenital nongoitrous hypothyroidism 7 | 1 |
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Relationships