Digital medicine Outcomes Value Set (DOVeS) Ontology - thyroid hormone resistance, generalized, autosomal recessive - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	thyroid hormone resistance, generalized, autosomal recessive
Synonyms	Refetoff syndrome GRTH THRB thyroid hormone unresponsiveness Gthr thyroid hormone receptor BETA thyroid hormone resistance syndrome thyroid hormone resistance thyroid hormone resistance, autosomal recessive thyroid hormone resistance, generalized, autosomal recessive
Definitions	A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.
ID	http://purl.obolibrary.org/obo/MONDO_0010131
altLabel	Refetoff syndrome GRTH THRB thyroid hormone unresponsiveness Gthr thyroid hormone receptor BETA thyroid hormone resistance syndrome thyroid hormone resistance thyroid hormone resistance, autosomal recessive thyroid hormone resistance, generalized, autosomal recessive
definition	A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.
has_broad_synonym	thyroid hormone resistance syndrome thyroid hormone resistance
has_exact_synonym	thyroid hormone resistance, autosomal recessive thyroid hormone resistance, generalized, autosomal recessive
has_related_synonym	Refetoff syndrome GRTH THRB thyroid hormone unresponsiveness Gthr thyroid hormone receptor BETA
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
label	thyroid hormone resistance, generalized, autosomal recessive
prefixIRI	MONDO:0010131
prefLabel	thyroid hormone resistance, generalized, autosomal recessive
textual definition	A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0009043 http://purl.obolibrary.org/obo/MONDO_0034217

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0010131	MONDO	SAME_URI
	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.bioontology.org/ontology/OMIM/274300	OMIM	LOOM