Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/607458 http://purl.bioontology.org/ontology/OMIM/607458
Preferred Name	SPINOCEREBELLAR ATAXIA 18
Synonyms	SCA18 SMNA SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SCA18 SMNA SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT
prefLabel	SPINOCEREBELLAR ATAXIA 18
Gene Symbol	SMNA SCA18
Scope Statement	Onset in second and third decades [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU001836 http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU003322 http://purl.bioontology.org/ontology/OMIM/MTHU003323 http://purl.bioontology.org/ontology/OMIM/MTHU003217 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU000284 http://purl.bioontology.org/ontology/OMIM/MTHU000282 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU003321 http://purl.bioontology.org/ontology/OMIM/MTHU003324 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
tui	T047
Gene Locus	7q22-q32
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	607458
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1843884
OMIM Entry Type	5
OMIM MimType Value	perc

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