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DO Term : mitochondrial DNA depletion syndrome 16 [DOID:0070446] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
618528,
OMIM:618528,
mitochondrial DNA depletion syndrome 16 (hepatic type)

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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