OBO ID: DOID:0080125 |
Term Name: | mitochondrial DNA depletion syndrome 6 | Search Ontology: | |
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Definition: | A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23. (5) | ||
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Ontology: | Human Disease ( DOID:0080125 ) |
OTHER mitochondrial DNA depletion syndrome 6 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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