Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Renal cysts and diabetes syndrome
Synonyms	Renal cysts - maturity-onset diabetes of the young RCAD syndrome MODY5 Renal dysfunction - early-onset diabetes Maturity-onset diabetes of the young type 5
ID	http://www.limics.org/hrdo/rdfns#pat_id_12168
altLabel	Renal cysts - maturity-onset diabetes of the young RCAD syndrome MODY5 Renal dysfunction - early-onset diabetes Maturity-onset diabetes of the young type 5
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Maturity+Onset+Diabetes+of+the+Young%5Btw%5D+(type+v%5Btw%5D+OR+type+5%5Btw%5D)+OR+MODY5+OR+%22MODY+5%22
id_MIM	137920
id_OMS	E11.2
id_Orpha	93111
patType	malformation syndrome
prefixIRI	hrdo:pat_id_12168
prefLabel	Renal cysts and diabetes syndrome
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0007669	MONDO	LOOM
http://purl.obolibrary.org/obo/OMIM_137920	CCO	LOOM
http://identifiers.org/omim/137920	REXO	LOOM
http://identifiers.org/omim/137920	GEXO	LOOM
http://identifiers.org/omim/137920	RETO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535520	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123018	NCIT	LOOM
http://purl.bioontology.org/ontology/OMIM/137920	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_0007669	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007669	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007669	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0007669	KTAO	LOOM
http://purl.bioontology.org/ontology/MESH/C535520	MESH	LOOM
http://purl.obolibrary.org/obo/NCIT_C123018	BERO	LOOM