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Ontology Browser

Term:
myopathy, lactic acidosis, and sideroblastic anemia 2 (DOID:0111186)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
myopathy, lactic acidosis, and sideroblastic anemia 1  
myopathy, lactic acidosis, and sideroblastic anemia 2  
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. (DO)
myopathy, lactic acidosis, and sideroblastic anemia 3  

Synonyms
Exact Synonyms: MLASA2
Primary IDs: OMIM:613561
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20598274 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24344687 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.