Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Frataxin
Synonyms	FRDA CyaY X25 FARR FA
ID	http://www.limics.org/hrdo/rdfns#gen_id_16083
altLabel	FRDA CyaY X25 FARR FA
geneSymbol	FXN
id_Ensembl	ENSG00000165060
id_Genatlas	FXN
id_HGNC	3951
id_MIM	606829
id_Reactome	Q16595
id_SwissProt	Q16595
prefixIRI	hrdo:gen_id_16083
prefLabel	Frataxin
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.bioontology.org/ontology/LNC/LP207802-2	LOINC	LOOM
http://purl.bioontology.org/ontology/MESH/D000096923	MESH	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU052840	LOINC	LOOM
http://purl.bioontology.org/ontology/OMIM/606829	OMIM	LOOM
http://purl.jp/bio/4/id/200906008483374027	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C098527	RH-MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_121965	ORDO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#31947	OCHV	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0387678	OCHV	LOOM