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Ontology Browser

Term:
myopathy, lactic acidosis, and sideroblastic anemia 1 (DOID:0111185)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
myopathy, lactic acidosis, and sideroblastic anemia 1  
A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. (DO)
myopathy, lactic acidosis, and sideroblastic anemia 2  
myopathy, lactic acidosis, and sideroblastic anemia 3  

Synonyms
Exact Synonyms: MLASA1
Primary IDs: OMIM:600462
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15108122

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