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Metadata
ID DOID:0111374
Name selective pituitary thyroid hormone resistance
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.
https://www.ncbi.nlm.nih.gov/pubmed/6798060, https://www.ncbi.nlm.nih.gov/pubmed/8040303
Xrefs

MESH:C564154

OMIM:145650

ORDO:165994

UMLS_CUI:C1840364

Subsets

DO_rare_slim

Synonyms

familial hyperthyroidism due to inappropriate thyrotropin secretion [EXACT]

pituitary resistance to thyroid hormone [EXACT]

PRTH [EXACT]

selective pituitary resistance to thyroid hormone [EXACT]

Parent Relationships

is_a hyperthyroidism

is_a autosomal dominant disease

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