Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	ATAXIN 7
Synonyms	SPINOCEREBELLAR ATAXIA 7 ATXN7
ID	http://purl.bioontology.org/ontology/OMIM/607640
altLabel	SPINOCEREBELLAR ATAXIA 7 ATXN7
cui	C0752125 C1538303
Gene Locus	3p14.1
Gene Symbol	ATXN7 SCA7 OPCA3
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/607640.0001
MIMTYPEMEANING	Gene with known sequence
notation	607640
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	ATAXIN 7
tui	T047 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D020754	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D020754	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/715726000	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715726000	SNOMEDCT	CUI
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://www.orpha.net/ORDO/Orphanet_118934	ORDO	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