Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015

Preferred Name	Generalized thyroid hormone resistance
Synonyms	GTHR
Definitions	(GTHR) - A disease characterized by goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. GTHR patients also have high levels of circulating thyroid hormones (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH).
ID	http://identifiers.org/omim/188570
altLabel	GTHR
definition	(GTHR) - A disease characterized by goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. GTHR patients also have high levels of circulating thyroid hormones (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH).
id	OMIM:188570
notation	OMIM:188570
prefLabel	Generalized thyroid hormone resistance
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

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Mapping To	Ontology	Source
http://identifiers.org/omim/188570	GEXO	SAME_URI
http://identifiers.org/omim/188570	RETO	SAME_URI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131816	NCIT	LOOM
http://purl.obolibrary.org/obo/OMIM_188570	CCO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/237560005	SNOMEDCT	LOOM
http://identifiers.org/omim/188570	GEXO	LOOM
http://identifiers.org/omim/188570	RETO	LOOM
http://purl.obolibrary.org/obo/NCIT_C131816	BERO	LOOM