Term Name: myopathy, lactic acidosis, and sideroblastic anemia 1
Synonyms: MLASA1
Definition: A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24.
Ontology: Human Disease [DOID:0111185]   ( DOID:0111185 )

Relationships
is a type of: myopathy, lactic acidosis, and sideroblastic anemia