myopathy, lactic acidosis, and sideroblastic anemia 1

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Summary

Literature (0)

DOID:0111185 - myopathy, lactic acidosis, and sideroblastic anemia 1

Disease Ontology Definition:A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24.

Synonyms: MLASA1,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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)