Search Ontology:
Human Disease

myopathy, lactic acidosis, and sideroblastic anemia 3

Term ID
DOID:0111184
Synonyms
  • MLASA3
Definition
A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. https://www.ncbi.nlm.nih.gov/pubmed/25037980
References
Ontology
Human Disease   ( DOID:0111184 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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