Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/500002
http://purl.bioontology.org/ontology/OMIM/500002
Preferred Name

MITOCHONDRIAL MYOPATHY WITH DIABETES
Synonyms
MITOCHONDRIAL MYOPATHY, LIPID TYPE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MITOCHONDRIAL MYOPATHY, LIPID TYPE
prefLabel
MITOCHONDRIAL MYOPATHY WITH DIABETES
Scope Statement
Highly variable clinical phenotype [MISCELLANEOUS]
Caused by mutation in the mitochondrial tRNA-glutamic acid gene (MTTE, 590025.0001) [MOLECULAR BASIS]
Variable age at onset (birth to adult) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU065553
http://purl.bioontology.org/ontology/OMIM/MTHU006781
http://purl.bioontology.org/ontology/OMIM/MTHU000660
http://purl.bioontology.org/ontology/OMIM/MTHU000379
http://purl.bioontology.org/ontology/OMIM/MTHU000422
http://purl.bioontology.org/ontology/OMIM/MTHU033373
http://purl.bioontology.org/ontology/OMIM/MTHU065552
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU006780
http://purl.bioontology.org/ontology/OMIM/MTHU000328
http://purl.bioontology.org/ontology/OMIM/MTHU006778
http://purl.bioontology.org/ontology/OMIM/MTHU006777
http://purl.bioontology.org/ontology/OMIM/MTHU006782
http://purl.bioontology.org/ontology/OMIM/MTHU000283
http://purl.bioontology.org/ontology/OMIM/MTHU000926
http://purl.bioontology.org/ontology/OMIM/MTHU006787
http://purl.bioontology.org/ontology/OMIM/MTHU006779
http://purl.bioontology.org/ontology/OMIM/MTHU006784
http://purl.bioontology.org/ontology/OMIM/MTHU036957
http://purl.bioontology.org/ontology/OMIM/MTHU065551
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tui
T047
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
500002
Semantic type UMLS property
Has inheritance type
cui
C1839028
Moved from
157650
OMIM Entry Type
3
OMIM MimType Value
pound
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