FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term selective pituitary thyroid hormone resistance ID (Ontology) DOID:0111374 (Human Disease)
Definition A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2.
Also Known As "familial hyperthyroidism due to inappropriate thyrotropin secretion" ; "pituitary resistance to thyroid hormone" ; "PRTH" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
thyroid gland disease           |
 |__hyperthyroidism_____________|
                                selective pituitary thyroid hormone resistance
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Is a autosomal dominant disease
hyperthyroidism
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Synonyms
  • "familial hyperthyroidism due to inappropriate thyrotropin secretion" EXACT
    "pituitary resistance to thyroid hormone" EXACT
    "PRTH" EXACT OMO:0003012
    "selective pituitary resistance to thyroid hormone" EXACT
Secondary IDs
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MESH:C564154
MIM:145650
ORDO:165994
UMLS_CUI:C1840364