Search Ontology:
Human Disease

myopathy, lactic acidosis, and sideroblastic anemia 2

Term ID
DOID:0111186
Synonyms
  • 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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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