Online Mendelian Inheritance in Man - LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615889 http://purl.bioontology.org/ontology/OMIM/615889
Preferred Name	LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
Synonyms	LKENP
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LKENP
prefLabel	LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
Gene Symbol	COXPD8 KIAA1270 AARS2 LKENP MTALARS
Scope Statement	Onset usually in young adulthood [MISCELLANEOUS] Earlier onset may occur [MISCELLANEOUS] Caused by mutation in the alanyl-tRNA synthetase 2 gene (AARS2, 612035.0004) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU019319 http://purl.bioontology.org/ontology/OMIM/MTHU036402 http://purl.bioontology.org/ontology/OMIM/MTHU025317 http://purl.bioontology.org/ontology/OMIM/MTHU000535 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU030536 http://purl.bioontology.org/ontology/OMIM/MTHU007383 http://purl.bioontology.org/ontology/OMIM/MTHU069861 http://purl.bioontology.org/ontology/OMIM/MTHU047241 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU003009 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU001673 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU047240 http://purl.bioontology.org/ontology/OMIM/MTHU037926 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU030647 http://purl.bioontology.org/ontology/OMIM/MTHU022945 http://purl.bioontology.org/ontology/OMIM/MTHU047242 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000940 See more See less
tui	T047
Gene Locus	6p21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615889
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4014588
OMIM Entry Type	3
OMIM MimType Value	pound

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