Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Hyperphenylalaninemia
Synonyms	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia due to BH4 deficiency Nonphenylketonuric hyperphenylalaninemia
ID	http://www.limics.org/hrdo/rdfns#pat_id_19279
ageOfOnset	Neonatal/infancy
altLabel	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia due to BH4 deficiency Nonphenylketonuric hyperphenylalaninemia
id_Medline	neant
id_MIM	233910 261630 261640 264070
id_OMS	E70.1
id_Orpha	238583
id_SNOMEDCT	68528007
id_UMLS	C0751436
inheritance	Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_19279
prefLabel	Hyperphenylalaninemia
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/CSP/1849-1177	CRISP	LOOM
http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_7546388	ONSTR	LOOM
http://purl.bioontology.org/ontology/LNC/LA21167-4	LOINC	LOOM
http://www.orpha.net/ORDO/Orphanet_238583	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_238583	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_238583	EFO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10084114	MEDDRA	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00003768	PMAPP-PMO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/68528007	SNOMEDCT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0751435	OCHV	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU010142	OMIM	LOOM
rgo:29501	GAMUTS	LOOM
http://identifiers.org/omim/261600	REXO	LOOM
http://identifiers.org/omim/261600	GEXO	LOOM
http://identifiers.org/omim/261600	RETO	LOOM
http://purl.obolibrary.org/obo/HP_0004923	HP	LOOM
http://purl.obolibrary.org/obo/HP_0004923	UPHENO	LOOM
http://purl.obolibrary.org/obo/HP_0004923	OBA	LOOM
http://purl.obolibrary.org/obo/OMIM_261600	CCO	LOOM
http://purl.jp/bio/4/id/200906086179712502	IOBC	LOOM