|OBO ID: DOID:0080123|
|Term Name:||mitochondrial DNA depletion syndrome 4b||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0080123)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 4b PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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