loading...| Preferred Name |
Visceral myopathy familial external ophthalmoplegia |
| Synonyms |
Mitochondrial DNA Depletion Syndrome 8A |
| ID |
http://purl.bioontology.org/ontology/MESH/C536350 |
| altLabel |
Mitochondrial DNA Depletion Syndrome 8A MNGIE Syndrome Mitochondrial neurogastrointestinal encephalopathy syndrome Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy, Autosomal Recessive Intestinal pseudoobstruction with external ophthalmoplegia Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction Oculogastrointestinal Muscular Dystrophy Myoneurogastrointestinal encephalopathy syndrome Thymidine Phosphorylase Deficiency MNGIE Disease Mngie, Rrm2b-Related Visceral Myopathy, Familial, With External Ophthalmoplegia POLIP Syndrome Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction Mitochondrial Neurogastrointestinal Encephalopathy Disease Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction Muscular dystrophy, oculogastrointestinal Mitochondrial DNA Depletion Syndrome 1 Mngie Without Leukoencephalopathy |
| cui |
C3711125 C4551995 C2749862 C3501849 C0872218 C1848586 |
| Has mapping qualifier | |
| HM |
D007418 D039141 D009886/Q000151 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D009886 |
| MDA |
20100825 |
| MeSH Frequency |
88 |
| MMR |
20200228 |
| notation |
C536350 |
| prefLabel |
Visceral myopathy familial external ophthalmoplegia |
| SC |
3 |
| TERMUI |
T808442 T842020 T829405 T810770 T845994 T842025 T742733 T756726 T739057 T842022 T845995 T739059 T842029 T823436 T845993 T842028 T810772 T805559 T810771 T742735 T739058 |
| TH |
NLM (2013) NLM (2014) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |