Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Fumaric aciduria
Synonyms	Fumarase deficiency
ID	http://www.limics.org/hrdo/rdfns#pat_id_3376
ageOfOnset	Neonatal/infancy
altLabel	Fumarase deficiency
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=fumarate+hydratase/df%5Bmajr%5D
id_MeSH	C538191
id_MIM	606812
id_OMS	E88.8
id_Orpha	24
id_SNOMEDCT	124616002 237983002
id_UMLS	C0342770 C2936826
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_3376
prefLabel	Fumaric aciduria
prevalence	<1 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0011730	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_24	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011730	MONDO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU003821	OMIM	LOOM
http://purl.bioontology.org/ontology/MESH/C538191	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538191	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0011730	DOVES	LOOM
http://www.orpha.net/ORDO/Orphanet_24	ORDO	LOOM