Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	phenylalanine hydroxylase
Synonyms	PH phenylalanine 4-monooxygenase
ID	http://www.orpha.net/ORDO/Orphanet_124068
alternative_term	PH phenylalanine 4-monooxygenase
hasDbXref	Reactome:P00439 Ensembl:ENSG00000171759 Genatlas:PAH IUPHAR:1240 ClinVar:PAH OMIM:612349 SwissProt:P00439 HGNC:8582
label	phenylalanine hydroxylase
prefixIRI	ORDO:Orphanet_124068
prefLabel	phenylalanine hydroxylase
symbol	PAH
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.jp/bio/4/id/200906057312044313	IOBC	LOOM
http://purl.bioontology.org/ontology/LNC/LP36857-8	LOINC	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0031456	OCHV	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00020218	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D010651	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16605	HRDO	LOOM
http://purl.bioontology.org/ontology/MESH/D010651	MESH	LOOM
http://purl.bioontology.org/ontology/RCD/X80Gy	RCD	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9611	OCHV	LOOM
http://purl.obolibrary.org/obo/MESH_D010651	BERO	LOOM
http://purl.obolibrary.org/obo/OMIT_0011639	OMIT	LOOM
http://purl.bioontology.org/ontology/OMIM/612349	OMIM	LOOM
http://id.nlm.nih.gov/mesh/D010651	MDM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.682.690.708.601	RH-MESH	LOOM