Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	ataxin 2
Synonyms	ATX2 trinucleotide repeat containing 13
ID	http://www.orpha.net/ORDO/Orphanet_118923
alternative_term	ATX2 trinucleotide repeat containing 13
hasDbXref	Reactome:Q99700 ClinVar:ATXN2 OMIM:601517 Ensembl:ENSG00000204842 Genatlas:ATXN2 SwissProt:Q99700 HGNC:10555
label	ataxin 2
prefixIRI	ORDO:Orphanet_118923
prefLabel	ataxin 2
symbol	ATXN2
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/PR_000004505	OBA	LOOM
http://purl.obolibrary.org/obo/MESH_D000067698	BERO	LOOM
http://www.ncbi.nlm.nih.gov/gene/20239	NIFSTD	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124928	NCIT	LOOM
http://purl.jp/bio/4/id/201606011100082849	IOBC	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00022253	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/NCIT_C124928	BERO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15338	HRDO	LOOM
http://purl.bioontology.org/ontology/OMIM/601517	OMIM	LOOM
http://id.nlm.nih.gov/mesh/D000067698	MDM	LOOM
http://purl.obolibrary.org/obo/OMIT_0001206	OMIT	LOOM
http://purl.obolibrary.org/obo/PR_000004505	PR	LOOM
http://purl.obolibrary.org/obo/PR_000004505	CCONT	LOOM
http://purl.obolibrary.org/obo/PR_000004505	EFO	LOOM
http://purl.obolibrary.org/obo/PR_000004505	NIFSTD	LOOM
http://purl.bioontology.org/ontology/MESH/D000067698	MESH	LOOM