Metadata | |
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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 |