Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620106
http://purl.bioontology.org/ontology/OMIM/620106
Preferred Name

SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT
Synonyms
SPG88
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SPG88
prefLabel
SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT
Gene Symbol
SPG88
KPNA3
Scope Statement
De novo mutation (in some patients) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Caused by mutation in the karyopherin alpha-3 gene (KPNA3, 601892.0001) [MOLECULAR BASIS]
Onset in the first year of life [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000474
http://purl.bioontology.org/ontology/OMIM/MTHU000379
http://purl.bioontology.org/ontology/OMIM/MTHU067302
http://purl.bioontology.org/ontology/OMIM/MTHU004325
http://purl.bioontology.org/ontology/OMIM/MTHU010824
http://purl.bioontology.org/ontology/OMIM/MTHU004323
http://purl.bioontology.org/ontology/OMIM/MTHU076334
http://purl.bioontology.org/ontology/OMIM/MTHU000749
http://purl.bioontology.org/ontology/OMIM/MTHU076333
http://purl.bioontology.org/ontology/OMIM/MTHU075150
http://purl.bioontology.org/ontology/OMIM/MTHU003860
http://purl.bioontology.org/ontology/OMIM/MTHU034355
http://purl.bioontology.org/ontology/OMIM/MTHU000470
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU059987
http://purl.bioontology.org/ontology/OMIM/MTHU025135
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tui
T047
Gene Locus
13q14.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620106
Semantic type UMLS property
Has inheritance type
cui
C5774247
OMIM Entry Type
3
OMIM MimType Value
pound
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