Search Ontology:
Human Disease
myopathy, lactic acidosis, and sideroblastic anemia 2
- Term ID
- DOID:0111186
- Synonyms
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- MLASA2
- Definition
- A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. (2)
- References
- Ontology
- Human Disease ( DOID:0111186 )
- is a type of
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