Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Wilson disease
Synonyms	Hepatolenticular degeneration
ID	http://www.limics.org/hrdo/rdfns#pat_id_134
ageOfOnset	Childhood
altLabel	Hepatolenticular degeneration
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hepatolenticular+degeneration%5Bmh%5D+OR+hepatolenticular+degener%5Bti%5D+OR+Wilson+Dis%5Bti%5D+OR+Westphal+Strump%5Bti%5D+OR+Wilson%27s+Dis%5Bti%5D
id_MIM	277900
id_OMS	E83.0
id_Orpha	905
id_SNOMEDCT	88518009
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_134
prefLabel	Wilson disease
prevalence	1-9 / 100 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
rgo:29243	GAMUTS	LOOM
http://purl.obolibrary.org/obo/OMIM_277900	CCO	LOOM
http://identifiers.org/omim/277900	REXO	LOOM
http://identifiers.org/omim/277900	GEXO	LOOM
http://identifiers.org/omim/277900	RETO	LOOM
http://purl.obolibrary.org/obo/DOID_893	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_893	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_893	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_893	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_893	ODAE	LOOM
http://purl.obolibrary.org/obo/DOID_893	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_893	FNS-H	LOOM
http://nanbyodata.jp/ontology/NANDO_2200579	NANDO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15130	DERMLEX	LOOM
http://purl.obolibrary.org/obo/DERMO_0000546	DERMO	LOOM
http://www.orpha.net/ORDO/Orphanet_905	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010200	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0010200	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010200	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010200	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0010200	KTAO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200655	NANDO	LOOM
http://purl.bioontology.org/ontology/OMIM/277900	OMIM	LOOM