| Metadata | |
|---|---|
| ID | DOID:0080121 |
| Name | mitochondrial DNA depletion syndrome 3 |
| Definition | A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. https://www.ncbi.nlm.nih.gov/pubmed/30589726, https://www.ncbi.nlm.nih.gov/pubmed/24423689, https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
deoxyguanosine kinase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |