| Metadata | |
|---|---|
| ID | DOID:0070446 |
| Name | mitochondrial DNA depletion syndrome 16 |
| Definition | A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. https://pubmed.ncbi.nlm.nih.gov/30157269/, https://pubmed.ncbi.nlm.nih.gov/27592148/ |
| Xrefs | |
| SKOS |
exactMatch MIM:618528 |
| Synonyms |
mitochondrial DNA depletion syndrome 16 (hepatic type) [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |