Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
Synonyms	THYROID HORMONE UNRESPONSIVENESS REFETOFF SYNDROME GTHR GRTHR
ID	http://purl.bioontology.org/ontology/OMIM/274300
altLabel	THYROID HORMONE UNRESPONSIVENESS REFETOFF SYNDROME GTHR GRTHR
cui	C3489796
Gene Locus	3p24.3
Gene Symbol	PRTH ERBA2 THR1 THRB
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	274300
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567936	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0010131	MONDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567936	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MESH/C567936	MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0010131	DOVES	LOOM