Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	frataxin
Synonyms	CyaY X25 FARR FA
ID	http://www.orpha.net/ORDO/Orphanet_121965
alternative_term	CyaY X25 FARR FA
hasDbXref	SwissProt:Q16595 Genatlas:FXN OMIM:606829 Reactome:Q16595 ClinVar:FXN Ensembl:ENSG00000165060 HGNC:3951
label	frataxin
prefixIRI	ORDO:Orphanet_121965
prefLabel	frataxin
symbol	FXN
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.limics.org/hrdo/rdfns#gen_id_16083	HRDO	LOOM
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://sbmi.uth.tmc.edu/ontology/ochv#31947	OCHV	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0387678	OCHV	LOOM