Online Mendelian Inheritance in Man - SPINOCEREBELLAR ATAXIA 48 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618093 http://purl.bioontology.org/ontology/OMIM/618093
Preferred Name	SPINOCEREBELLAR ATAXIA 48
Synonyms	SCA48
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SCA48
prefLabel	SPINOCEREBELLAR ATAXIA 48
Gene Symbol	STUB1 CHIP SCAR16 SCA48
Scope Statement	Patients may present with either cognitive-affective symptoms or motor symptoms [MISCELLANEOUS] Onset in mid-adulthood [MISCELLANEOUS] Caused by mutation in the STIP1 homologous and U box-containing protein 1 gene (STUB1, 607207.0010) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004242 http://purl.bioontology.org/ontology/OMIM/MTHU004475 http://purl.bioontology.org/ontology/OMIM/MTHU003622 http://purl.bioontology.org/ontology/OMIM/MTHU038079 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU012421 http://purl.bioontology.org/ontology/OMIM/MTHU072708 http://purl.bioontology.org/ontology/OMIM/MTHU003887 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU072705 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU036392 http://purl.bioontology.org/ontology/OMIM/MTHU002761 http://purl.bioontology.org/ontology/OMIM/MTHU000282 http://purl.bioontology.org/ontology/OMIM/MTHU072706 http://purl.bioontology.org/ontology/OMIM/MTHU004285 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU000764 http://purl.bioontology.org/ontology/OMIM/MTHU072707 http://purl.bioontology.org/ontology/OMIM/MTHU004024 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU030647 http://purl.bioontology.org/ontology/OMIM/MTHU036372 http://purl.bioontology.org/ontology/OMIM/MTHU000534 http://purl.bioontology.org/ontology/OMIM/MTHU018589 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU040091 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000928 http://purl.bioontology.org/ontology/OMIM/MTHU000940 See more See less
tui	T047
Gene Locus	16p13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618093
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4748158
OMIM Entry Type	3
OMIM MimType Value	pound

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