| Metadata | |
|---|---|
| ID | DOID:0070331 |
| Name | mitochondrial DNA depletion syndrome 8b |
| Definition | A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22. https://www.ncbi.nlm.nih.gov/pubmed/30373120, https://www.ncbi.nlm.nih.gov/pubmed/28215579 |
| Xrefs | |
| Synonyms |
mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Gastrointestinal dysmotility has symptom some ptosis has material basis in some autosomal recessive inheritance has phenotype some Cachexia |