mitochondrial DNA depletion syndrome 16

Term ID

DOID:0070446

Synonyms

• mitochondrial DNA depletion syndrome 16 (hepatic type)

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. (2)

References

• OMIM:618528

Ontology

Human Disease   ( DOID:0070446 )