Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/601556 http://purl.bioontology.org/ontology/OMIM/601556
Preferred Name	ATAXIN 1
Synonyms	ALT-ATXN1 ATXN1 ATXN1, ALTERNATIVE READING FRAME SPINOCEREBELLAR ATAXIA 1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ALT-ATXN1 ATXN1 ATXN1, ALTERNATIVE READING FRAME SPINOCEREBELLAR ATAXIA 1
prefLabel	ATAXIN 1
Gene Symbol	ATXN1 SCA1 ATX1
notation	601556
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/601556.0001
OMIM MimType Value	star
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T028
OMIM Entry Type	1
type	http://www.w3.org/2002/07/owl#Class
MIMTYPEMEANING	Gene with known sequence
Gene Locus	6p23
Phenotype of	http://purl.bioontology.org/ontology/OMIM/601556.0001
tui	T047 T028
cui	C0752120 C1538298

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