Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/605280 http://purl.bioontology.org/ontology/OMIM/605280
Preferred Name	SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
Synonyms	SPG13
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SPG13
prefLabel	SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
Gene Symbol	SPG13 HSPD1 HSP60 HLD4
Scope Statement	Severe phenotype [MISCELLANEOUS] Age of onset 17 to 68 years (mean 39) [MISCELLANEOUS] Caused by mutation in the heat-shock 60kD protein 1 gene (HSPD1, 118190.0001) [MOLECULAR BASIS] Genetic heterogeneity, see SPG3A (182600) [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003179 http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU036960 http://purl.bioontology.org/ontology/OMIM/MTHU000471 http://purl.bioontology.org/ontology/OMIM/MTHU036392 http://purl.bioontology.org/ontology/OMIM/MTHU000870 http://purl.bioontology.org/ontology/OMIM/MTHU003539 http://purl.bioontology.org/ontology/OMIM/MTHU000867 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU000479 See more See less
tui	T047
Gene Locus	2q33.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	605280
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1854467
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display