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Human Disease
mitochondrial DNA depletion syndrome 17
- Term ID
- DOID:0070448
- Synonyms
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- Definition
- A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. https://pubmed.ncbi.nlm.nih.gov/28973171/
- References
- Ontology
- Human Disease ( DOID:0070448 )
- is a type of
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Genes Involved
Zebrafish Models