Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
Synonyms	THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES GTHR GRTHD
ID	http://purl.bioontology.org/ontology/OMIM/188570
altLabel	THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES GTHR GRTHD
cui	C2937288
Gene Locus	3p24.3
Gene Symbol	PRTH ERBA2 THR1 THRB
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	188570
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567934	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0008569	MONDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567934	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0008569	DOVES	LOOM
http://purl.bioontology.org/ontology/MESH/C567934	MESH	LOOM