Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Butyrylcholinesterase deficiency
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_3704
ageOfDeath	No data available
ageOfOnset	Neonatal/infancy
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=butyrylcholinesterase/df%5Bmajr%5D
id_MeSH	C537417
id_Orpha	132
id_SNOMEDCT	360589003
id_UMLS	C1283400
patType	disease
prefixIRI	hrdo:pat_id_3704
prefLabel	Butyrylcholinesterase deficiency
prevalence	1-9 / 100 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537417	RH-MESH	LOOM
http://identifiers.org/omim/177400	REXO	LOOM
http://identifiers.org/omim/177400	GEXO	LOOM
http://identifiers.org/omim/177400	RETO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015270	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0015270	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015270	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0015270	EFO	LOOM
http://purl.bioontology.org/ontology/OMIM/617936	OMIM	LOOM
http://purl.obolibrary.org/obo/OMIM_177400	CCO	LOOM
http://purl.bioontology.org/ontology/MESH/C537417	MESH	LOOM