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Echinobase
Summary Literature (0)
DOID:0111186 - myopathy, lactic acidosis, and sideroblastic anemia 2

Disease Ontology 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.

Synonyms: MLASA2

Echinobase Genes :


MIM:
MIM:613561 - myopathy, lactic acidosis, and sideroblastic anemia 2; mlasa2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): myopathy, lactic acidosis, and sideroblastic anemia (is_a)