OBO ID: DOID:0080123 |
Term Name: | mitochondrial DNA depletion syndrome 4b | Search Ontology: | |
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Definition: | A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26. (4) | ||
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Ontology: | Human Disease ( DOID:0080123 ) |
OTHER mitochondrial DNA depletion syndrome 4b PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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