Metadata | |
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ID | DOID:0080125 |
Name | mitochondrial DNA depletion syndrome 6 |
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. https://www.ncbi.nlm.nih.gov/pubmed/29282788, https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/30298599 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome [EXACT] Navajo neurohepatopathy [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |