Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/117360 http://purl.bioontology.org/ontology/OMIM/117360
Preferred Name	SPINOCEREBELLAR ATAXIA 29
Synonyms	CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT APLASIA OF CEREBELLAR VERMIS CNPCA ACV SCA29 CEREBELLAR VERMIS APLASIA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT APLASIA OF CEREBELLAR VERMIS CNPCA ACV SCA29 CEREBELLAR VERMIS APLASIA See more See less
prefLabel	SPINOCEREBELLAR ATAXIA 29
Gene Symbol	SCA29 SCA16 SCA15 ITPR1
Scope Statement	Caused by mutation in the inositol 1,4,5-triphosphate receptor 1 gene (ITPR1, 147265.0003) [MOLECULAR BASIS] Slow or nonprogressive [MISCELLANEOUS] Onset at birth [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU036543 http://purl.bioontology.org/ontology/OMIM/MTHU036547 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU000284 http://purl.bioontology.org/ontology/OMIM/MTHU000616 http://purl.bioontology.org/ontology/OMIM/MTHU000282 http://purl.bioontology.org/ontology/OMIM/MTHU001410 http://purl.bioontology.org/ontology/OMIM/MTHU036544 http://purl.bioontology.org/ontology/OMIM/MTHU008110 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000928 See more See less
tui	T047
Gene Locus	3p26.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	117360
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1861732
OMIM Entry Type	3
OMIM MimType Value	pound

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