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