Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Partial atrioventricular canal
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_8597
ageOfOnset	Variable
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Partial%5Bti%5D+%28atrioventricular+canal%5Btw%5D+OR+Endocardial+Cushion+Defects%5Bmh%5D%29
id_MeSH	C536112
id_MIM	600309 606215 606217 614430 614474
id_OMS	Q21.2
id_Orpha	1330
id_UMLS	C0344735
patType	morphological anomaly
prefixIRI	hrdo:pat_id_8597
prefLabel	Partial atrioventricular canal
prevalence	1-5 / 10 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_1

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0015275	MONDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536112	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MESH/C536112	MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0015275	DOVES	LOOM