Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	Hyperphenylalaninemia
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU010142
cui	C0751435
Manifestation of	http://purl.bioontology.org/ontology/OMIM/261640 http://purl.bioontology.org/ontology/OMIM/261630 http://purl.bioontology.org/ontology/OMIM/261600 http://purl.bioontology.org/ontology/OMIM/233910 http://purl.bioontology.org/ontology/OMIM/264070
notation	MTHU010142
prefLabel	Hyperphenylalaninemia
tui	T047
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000012 http://purl.bioontology.org/ontology/OMIM/MTHU000176

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/CSP/1849-1177	CRISP	CUI
http://purl.bioontology.org/ontology/MDRFRE/10084106	MDRFRE	CUI
http://purl.bioontology.org/ontology/LNC/LA21167-4	LOINC	CUI
http://purl.bioontology.org/ontology/MEDDRA/10084114	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10084106	MEDDRA	CUI
http://purl.bioontology.org/ontology/SCTSPA/68528007	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10084114	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/68528007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D010661	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10084106	MDRGER	CUI
http://purl.bioontology.org/ontology/SNMI/D6-A1110	SNMI	CUI
http://purl.bioontology.org/ontology/MDRGER/10084114	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D010661	MESH	CUI
http://www.orpha.net/ORDO/Orphanet_238583	EFO	LOOM
http://purl.obolibrary.org/obo/HP_0004923	MAXO	LOOM
http://purl.obolibrary.org/obo/HP_0004923	OBA	LOOM
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	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://www.limics.org/hrdo/rdfns#pat_id_19279	HRDO	LOOM
http://identifiers.org/omim/261600	REXO	LOOM
http://identifiers.org/omim/261600	GEXO	LOOM
http://identifiers.org/omim/261600	RETO	LOOM
http://www.gamuts.net/entity#hyperphenylalaninemia	GAMUTS	LOOM
http://purl.obolibrary.org/obo/HP_0004923	HP	LOOM
http://purl.obolibrary.org/obo/HP_0004923	UPHENO	LOOM
http://purl.obolibrary.org/obo/OMIM_261600	CCO	LOOM
http://purl.jp/bio/4/id/200906086179712502	IOBC	LOOM