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Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/C564972
http://purl.bioontology.org/ontology/MESH/C564972
|
|---|---|
| Preferred Name | Myopathy with Lactic Acidosis, Hereditary |
| Synonyms |
Myopathy with Deficiency of ISCU
Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme
Myoglobinuria due to Abnormal Glycolysis
Myopathy with Exercise Intolerance, Swedish Type
Hereditary Myopathy with Lactic Acidosis
Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase
Iron-Sulfur Cluster Deficiency Myopathy
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Myopathy with Deficiency of ISCU
Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme
Myoglobinuria due to Abnormal Glycolysis
Myopathy with Exercise Intolerance, Swedish Type
Hereditary Myopathy with Lactic Acidosis
Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase
Iron-Sulfur Cluster Deficiency Myopathy
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|
|---|---|
| prefLabel | Myopathy with Lactic Acidosis, Hereditary
|
| TH |
OMIM (2013)
GHR (2014)
|
| notation | C564972
|
| MMR | 20131024
|
| MeSH Frequency | 5
|
| Semantic type UMLS property | |
| HM |
D009135/Q000151
D000140/Q000151
|
| Inverse of RB | 0
|
| MDA | 20121105
|
| SC | 3
|
| type | |
| Mapped to | |
| Has mapping qualifier | |
| tui | T047
|
| cui | C1850718
|
| TERMUI |
T846252
T830395
T830393
T830396
T830394
T842103
T842105
T842104
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