Online Mendelian Inheritance in Man - MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/251950 http://purl.bioontology.org/ontology/OMIM/251950
Preferred Name	MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS
Synonyms	MMLA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MMLA
prefLabel	MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS
Gene Symbol	MMLA PNPLA8
Scope Statement	Onset in first year of life [MISCELLANEOUS] Caused by mutation in the patatin-like phospholipase domain-containing protein 8 gene (PNPLA8, 612123.0001) [MOLECULAR BASIS] Variable features may be present [MISCELLANEOUS] 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/MTHU001138 http://purl.bioontology.org/ontology/OMIM/MTHU000422 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU079450 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU049060 http://purl.bioontology.org/ontology/OMIM/MTHU020187 http://purl.bioontology.org/ontology/OMIM/MTHU036657 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU049059 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU049063 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU069522 http://purl.bioontology.org/ontology/OMIM/MTHU049061 http://purl.bioontology.org/ontology/OMIM/MTHU076559 http://purl.bioontology.org/ontology/OMIM/MTHU000964 http://purl.bioontology.org/ontology/OMIM/MTHU023139 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU009765 http://purl.bioontology.org/ontology/OMIM/MTHU002761 http://purl.bioontology.org/ontology/OMIM/MTHU000282 http://purl.bioontology.org/ontology/OMIM/MTHU003112 http://purl.bioontology.org/ontology/OMIM/MTHU016307 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU049062 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU022723 http://purl.bioontology.org/ontology/OMIM/MTHU079451 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	7q31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	251950
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1855033
OMIM Entry Type	3
OMIM MimType Value	pound

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