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Disease Ontology Browser
mitochondrial DNA depletion syndrome 6 (DOID:0080125)
Alliance: disease page
Synonyms: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome; Navajo neurohepatopathy
Alt IDs: OMIM:256810, MESH:C538344, ORDO:255229
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory