Mitochondrial Dna Depletion Syndrome 11
Disease ID: disease_node_16824
Connections displayed (default: 10).
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| Dbxref | MIM:615084, ORDO:352447 |
|---|---|
| Subclassof | DOID_0070329, DOID_0050737 |
| Data Source | DOID |
| Synonyms | progressive external ophthalmoplegia-myopathy-emaciation syndrome |
| Doid Label | mitochondrial DNA depletion syndrome 11 |
| Doid Description | A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintece exonuclease 1 gene on chromosome 20p11. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16824 |
| Doid Id | DOID_0080129 |
| Label | Mitochondrial Dna Depletion Syndrome 11 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Dna Depletion Syndrome(ID:disease_node_16818) (Disease)