Online Mendelian Inheritance in Man - SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619735 http://purl.bioontology.org/ontology/OMIM/619735
Preferred Name	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE
Synonyms	SPG86
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SPG86
prefLabel	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE
Gene Symbol	D6S82E BAT5 SPG86 ABHD16A
Scope Statement	Caused by mutation in the abhydrolase domain-containing protein 16A, phospholipase gene (ABHD16A, 142620.0001) [MOLECULAR BASIS] Onset in infancy or early childhood [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004160 http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU005726 http://purl.bioontology.org/ontology/OMIM/MTHU004435 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU075197 http://purl.bioontology.org/ontology/OMIM/MTHU051790 http://purl.bioontology.org/ontology/OMIM/MTHU004092 http://purl.bioontology.org/ontology/OMIM/MTHU075194 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU030536 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU006299 http://purl.bioontology.org/ontology/OMIM/MTHU075195 http://purl.bioontology.org/ontology/OMIM/MTHU069522 http://purl.bioontology.org/ontology/OMIM/MTHU006808 http://purl.bioontology.org/ontology/OMIM/MTHU003762 http://purl.bioontology.org/ontology/OMIM/MTHU004882 http://purl.bioontology.org/ontology/OMIM/MTHU075196 http://purl.bioontology.org/ontology/OMIM/MTHU007616 http://purl.bioontology.org/ontology/OMIM/MTHU002108 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU000870 http://purl.bioontology.org/ontology/OMIM/MTHU000554 http://purl.bioontology.org/ontology/OMIM/MTHU002170 http://purl.bioontology.org/ontology/OMIM/MTHU012071 http://purl.bioontology.org/ontology/OMIM/MTHU062508 http://purl.bioontology.org/ontology/OMIM/MTHU012450 http://purl.bioontology.org/ontology/OMIM/MTHU072286 http://purl.bioontology.org/ontology/OMIM/MTHU036678 http://purl.bioontology.org/ontology/OMIM/MTHU051708 http://purl.bioontology.org/ontology/OMIM/MTHU037057 http://purl.bioontology.org/ontology/OMIM/MTHU005783 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU022723 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU002752 See more See less
tui	T047
Gene Locus	6p21.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619735
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5676910
OMIM Entry Type	3
OMIM MimType Value	pound

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