Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	ataxin 7
Synonyms	SGF73 SAGA associated factor 73 kDa homolog (S. cerevisiae) Autosomal dominant cerebellar ataxia with retinal degeneration OPCA3 ADCAII
ID	http://www.orpha.net/ORDO/Orphanet_118934
alternative_term	SGF73 SAGA associated factor 73 kDa homolog (S. cerevisiae) Autosomal dominant cerebellar ataxia with retinal degeneration OPCA3 ADCAII
hasDbXref	Reactome:O15265 Genatlas:ATXN7 ClinVar:ATXN7 SwissProt:O15265 OMIM:607640 Ensembl:ENSG00000163635 HGNC:10560
label	ataxin 7
prefixIRI	ORDO:Orphanet_118934
prefLabel	ataxin 7
symbol	ATXN7
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C108176	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192714	NCIT	LOOM
http://purl.bioontology.org/ontology/MESH/D000067719	MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/607640	OMIM	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00023615	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/MESH_D000067719	BERO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15340	HRDO	LOOM
http://purl.jp/bio/4/id/201606007832158921	IOBC	LOOM
http://id.nlm.nih.gov/mesh/D000067719	MDM	LOOM
http://purl.obolibrary.org/obo/OMIT_0001209	OMIT	LOOM
http://purl.obolibrary.org/obo/PR_000004508	PR	LOOM
http://purl.obolibrary.org/obo/PR_000004508	NIFSTD	LOOM