Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Generalized resistance to thyroid hormone
Synonyms	Refetoff syndrome Deafness - thyroid hormone resistance
ID	http://www.limics.org/hrdo/rdfns#pat_id_2878
altLabel	Refetoff syndrome Deafness - thyroid hormone resistance
id_Medline	neant
id_MIM	274300 188570
id_OMS	E07.8
id_Orpha	3221
id_SNOMEDCT	237560005
patType	disease
prefixIRI	hrdo:pat_id_2878
prefLabel	Generalized resistance to thyroid hormone
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_3221	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009043	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009043	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009043	DOVES	LOOM
http://www.orpha.net/ORDO/Orphanet_3221	ORDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10062444	MEDDRA	LOOM
http://id.nlm.nih.gov/mesh/D018382	MDM	LOOM