| Metadata | |
|---|---|
| ID | DOID:0080123 |
| Name | mitochondrial DNA depletion syndrome 4b |
| 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. https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/30385167, https://www.ncbi.nlm.nih.gov/pubmed/30395865 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mitochondrial neurogastrointestinal encephalopathy syndrome [EXACT] |
| Parent Relationships |