Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	46,XY disorder of sex development
Synonyms	46,XY DSD
ID	http://www.limics.org/hrdo/rdfns#pat_id_13103
altLabel	46,XY DSD
id_Medline	neant
id_MeSH	D058490
id_Orpha	98085
id_UMLS	C2751824
patType	group of phenomes
prefixIRI	hrdo:pat_id_13103
prefLabel	46,XY disorder of sex development
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_12085

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0020040	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020040	EFO	LOOM
rgo:35096	GAMUTS	LOOM
http://purl.obolibrary.org/obo/MONDO_0020040	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0020040	HSPO	LOOM
http://purl.obolibrary.org/obo/MONDO_0020040	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0020040	KTAO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/880094008	SNOMEDCT	LOOM