| Identifier system | ID | Label | Notes | Supporting citation IDs |
|---|---|---|---|---|
| Disease name | — | Mitochondrial DNA Depletion Syndrome 7 | Mendelian mtDNA maintenance disorder caused by MPV17 deficiency; hepatocerebral presentation with liver-predominant disease. | (pqac-00000016, pqac-00000021) |
| Gene-disease association / MONDO | MONDO_0018158 | mitochondrial DNA depletion syndrome | Open Targets links MONDO_0018158 to **MPV17** (ENSG00000115204) with literature support; URL: https://platform.opentargets.org | (pqac-00000000) |
| Gene | ENSG00000115204 | MPV17 | Approved symbol: **MPV17**; mitochondrial inner membrane protein MPV17; nuclear gene underlying the MPV17-related hepatocerebral MDDS phenotype. | (pqac-00000000, pqac-00000016, pqac-00000019) |
| Clinical subtype / descriptor | — | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome | Uusimaa 2014 describes MPV17 mutations as an important cause of the hepatocerebral form of mtDNA depletion syndrome; URL: https://doi.org/10.1038/ejhg.2013.112 | (pqac-00000002, pqac-00000016) |
| Synonym | — | MPV17-related mitochondrial DNA depletion syndrome | Common literature synonym for the same MPV17-associated disease spectrum. | (pqac-00000002, pqac-00000007) |
| Synonym | — | MPV17-related hepatocerebral mitochondrial DNA maintenance disorder | Abduljalil 2023 places the condition within hepatocerebral mitochondrial DNA maintenance disorders; URL: https://doi.org/10.1155/2023/4514552 | (pqac-00000007, pqac-00000021) |
| Synonym | — | Navajo neurohepatopathy | Recognized MPV17-related presentation/allelic disorder name in the literature, especially associated with p.Arg50Gln in prior reports. | (pqac-00000015, pqac-00000019) |
| Inheritance | — | Autosomal recessive | Both Uusimaa 2014 and Abduljalil 2023 describe mtDNA depletion/maintenance disorders due to MPV17 as autosomal recessive nuclear-gene disorders. | (pqac-00000016, pqac-00000007) |
| Resource note | — | Aggregated disease-level resources + individual patient reports | Identifier mapping comes from aggregated knowledge resources (Open Targets/MONDO), while phenotype and synonym usage are supported by cohort studies and case reports. | (pqac-00000000, pqac-00000002, pqac-00000007) |


*Table: This table summarizes key identifiers, naming conventions, and inheritance information for MPV17-related mitochondrial DNA depletion syndrome 7. It combines ontology/resource mapping with primary clinical literature so the disease entry can be normalized across knowledge bases.*