Search Ontology:
Human Disease

myopathy, lactic acidosis, and sideroblastic anemia 1

Term ID
DOID:0111185
Synonyms
  • MLASA1
Definition
A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. https://www.ncbi.nlm.nih.gov/pubmed/15108122
References
Ontology
Human Disease   ( DOID:0111185 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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