OBO ID: DOID:0080127 |
Term Name: | mitochondrial DNA depletion syndrome 8a | Search Ontology: | |
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Definition: | A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. (5) | ||
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Ontology: | Human Disease ( DOID:0080127 ) |
OTHER mitochondrial DNA depletion syndrome 8a PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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