OBO ID: DOID:0111186
Term Name: myopathy, lactic acidosis, and sideroblastic anemia 2 Search Ontology:
Synonyms:
  • MLASA2
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. (2)
References:
Ontology: Human Disease   ( DOID:0111186 )
OTHER myopathy, lactic acidosis, and sideroblastic anemia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2 613561
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None