mitochondrial DNA depletion syndrome 6

Summary

DOID:0080125 - mitochondrial DNA depletion syndrome 6

Disease Ontology Definition:A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23.

Synonyms: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, Navajo neurohepatopathy

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mpv17

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009747 - Navajo neurohepatopathy

MONDO:0009747 - Navajo neurohepatopathy

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), mitochondrial DNA depletion syndrome (is_a), mitochondrial metabolism disease (is_a)