Congenital Nongoitrous Hypothyroidism 7
Disease ID: disease_node_14421
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| Dbxref | MIM:618573, ORDO:99832 |
|---|---|
| Subclassof | DOID_0050328, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CHNG7, TRH resistance syndrome, central hypothyroidism due to TRH receptor deficiency, resistance to thyrotropin-releasing hormone syndrome |
| Doid Label | congenital nongoitrous hypothyroidism 7 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14421 |
| Doid Id | DOID_0111836 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Nongoitrous Hypothyroidism 7 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Hypothyroidism(ID:disease_node_2303) (Disease)