Search Ontology:
Human Disease
mitochondrial DNA depletion syndrome 4b
- Term ID
- DOID:0080123
- Synonyms
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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)
- References
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- MIM:613662
- ORDO:298
- Ontology
- Human Disease ( DOID:0080123 )
- is a type of
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