Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Phenylalanine hydroxylase
Synonyms
ID	http://www.limics.org/hrdo/rdfns#gen_id_16605
geneSymbol	PAH
id_Ensembl	ENSG00000171759
id_Genatlas	PAH
id_HGNC	8582
id_MIM	612349
id_Reactome	P00439
id_SwissProt	P00439
prefixIRI	hrdo:gen_id_16605
prefLabel	Phenylalanine hydroxylase
subClassOf	http://www.limics.org/hrdo/rdfns#gen_id_1

Delete	Subject	Author	Type	Created
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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://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
http://www.orpha.net/ORDO/Orphanet_124068	ORDO	LOOM