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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

MIM:618528

SKOS

exactMatch MIM:618528

Synonyms

mitochondrial DNA depletion syndrome 16 (hepatic type) [EXACT]

Parent Relationships

is_a mitochondrial DNA depletion syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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