| Disease name | Synonyms / alternative names | MONDO ID | Associated gene(s) | Inheritance | Key defining biomarker thresholds | Notes |
|---|---|---|---|---|---|---|
| Mitochondrial neurogastrointestinal encephalomyopathy | MNGIE; mitochondrial neurogastrointestinal encephalopathy; MNGIE-MTDPS1 | MONDO:0017575 | **TYMP** (primary causal gene); MNGIE-like phenotypes also reported with **POLG**, **RRM2B**, **LIG3** | Autosomal recessive | Plasma thymidine **>3 µmol/L**; plasma 2'-deoxyuridine **>5 µmol/L** | Canonical MNGIE is the TYMP-related form with thymidine phosphorylase deficiency and systemic thymidine/deoxyuridine accumulation; healthy individuals typically have plasma thymidine and deoxyuridine **<0.05 µmol/L** (pqac-00000000, pqac-00000001, pqac-00000002, pqac-00000003, pqac-00000009) |
| Mitochondrial neurogastrointestinal encephalomyopathy (TYMP-associated form) | TYMP-related MNGIE; thymidine phosphorylase deficiency MNGIE | MONDO:0017575 | **TYMP** | Autosomal recessive | Same defining plasma thresholds: thymidine **>3 µmol/L**, deoxyuridine **>5 µmol/L** | TYMP encodes thymidine phosphorylase; disease-defining biochemistry reflects loss of TP activity and nucleoside accumulation (pqac-00000001, pqac-00000002, pqac-00000003) |
| MNGIE-like phenotype | MNGIE-like disease; mitochondrial DNA depletion syndrome, MNGIE type | MONDO:0030696* | **POLG**, **RRM2B**, **LIG3** reported in evidence context | Usually autosomal recessive in reported examples | No single TYMP-style biomarker threshold established in the provided evidence context | Distinct from classic TYMP-associated MNGIE; included because the evidence context explicitly notes genetically heterogeneous MNGIE-like phenotypes (pqac-00000000, pqac-00000002) |


*Table: This table summarizes the core disease naming conventions, MONDO mapping, causal genes, inheritance, and hallmark plasma biomarker thresholds for classic TYMP-associated MNGIE and related MNGIE-like entities.*