Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618418 http://purl.bioontology.org/ontology/OMIM/618418
Preferred Name	SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT
Synonyms	SPG80
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SPG80
prefLabel	SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT
Gene Symbol	UBAP1 UBAP SPG80
Scope Statement	Mean age at onset 8 years [MISCELLANEOUS] Caused by mutation in the ubiquitin-associated protein 1 gene (UBAP1, 609787.0001) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU042846 http://purl.bioontology.org/ontology/OMIM/MTHU064675 http://purl.bioontology.org/ontology/OMIM/MTHU000945 http://purl.bioontology.org/ontology/OMIM/MTHU070686 http://purl.bioontology.org/ontology/OMIM/MTHU000933 http://purl.bioontology.org/ontology/OMIM/MTHU002561 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU000470 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU001203 http://purl.bioontology.org/ontology/OMIM/MTHU022723 http://purl.bioontology.org/ontology/OMIM/MTHU000479 See more See less
tui	T047
Gene Locus	9p22-p21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618418
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5193084
OMIM Entry Type	3
OMIM MimType Value	pound

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