Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Pipecolic acidemia
Synonyms	Hyperpipecolatemia
ID	http://www.limics.org/hrdo/rdfns#pat_id_3373
ageOfOnset	Neonatal/infancy
altLabel	Hyperpipecolatemia
id_Medline	neant
id_MeSH	D018901
id_MIM	239400
id_OMS	E72.3
id_Orpha	34
id_SNOMEDCT	13306007 88469006
id_UMLS	C0268537 C0282526
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_3373
prefLabel	Pipecolic acidemia
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_34	ORDO	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-A4190	SNMI	LOOM
http://purl.jp/bio/4/id/200906022402408626	IOBC	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/13306007	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU013983	OMIM	LOOM