Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Hereditary xanthinuria
Synonyms	Classical xanthinuria Xanthic urolithiasis Xanthine stone disease
ID	http://www.limics.org/hrdo/rdfns#pat_id_704
ageOfDeath	Normal
ageOfOnset	Variable
altLabel	Classical xanthinuria Xanthic urolithiasis Xanthine stone disease
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=xanthine+oxidase/df+OR+xanthinuria%5Btw%5D
id_MIM	278300 603592
id_OMS	E79.8
id_Orpha	3467
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_704
prefLabel	Hereditary xanthinuria
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/E79.82	ICD10CM	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/54627004	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_3467	ORDO	LOOM
http://purl.jp/bio/4/id/200906060127388350	IOBC	LOOM
http://purl.obolibrary.org/obo/MONDO_0018106	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0018106	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018106	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018106	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0018106	KTAO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018106	OBA	LOOM