OBO ID: DOID:0080125
Term Name: mitochondrial DNA depletion syndrome 6 Search Ontology:
Synonyms:
  • MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
  • Navajo neurohepatopathy
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. (5)
References:
Ontology: Human Disease   (DOID:0080125)
OTHER mitochondrial DNA depletion syndrome 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 256810
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None