Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614229 http://purl.bioontology.org/ontology/OMIM/614229
Preferred Name	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
Synonyms	SCAR11
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SCAR11
prefLabel	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
Gene Symbol	SCAR11 SYT14
Scope Statement	Slowly progressive [MISCELLANEOUS] Caused by mutation in the synaptotagmin 14 gene (SYT14, 610949.0001) [MOLECULAR BASIS] Two Japanese brothers have been reported (as of September 2011) [MISCELLANEOUS] Onset of ataxia in the fifties [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000929 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU022043 http://purl.bioontology.org/ontology/OMIM/MTHU001776 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000928 See more See less
tui	T047
Gene Locus	1q32.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614229
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5190803
OMIM Entry Type	3
OMIM MimType Value	pound

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