Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Epstein syndrome
Synonyms	Alport syndrome with macrothrombocytopenia
ID	http://www.limics.org/hrdo/rdfns#pat_id_2253
ageOfOnset	Neonatal/infancy
altLabel	Alport syndrome with macrothrombocytopenia
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Epstein+syndrome%5Btw%5D
id_MeSH	C535507
id_MIM	153650
id_OMS	D69.4
id_Orpha	1019
id_SNOMEDCT	234485006
id_UMLS	C0398641
inheritance	Autosomal dominant
patType	disease
prefixIRI	hrdo:pat_id_2253
prefLabel	Epstein syndrome
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://www.orpha.net/ORDO/Orphanet_1019	ORDO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200893	NANDO	LOOM
http://nanbyodata.jp/ontology/NANDO_2200127	NANDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C131639	BERO	LOOM
http://purl.jp/bio/4/id/201006055792032601	IOBC	LOOM
http://purl.obolibrary.org/obo/HIO_0000044	HIO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131639	NCIT	LOOM
http://www.orpha.net/ORDO/Orphanet_1019	ORDO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0398641	OCHV	LOOM
http://purl.bioontology.org/ontology/RCD/X20FC	RCD	LOOM