Mitochondrial Dna Depletion Syndrome 20
Disease ID: disease_node_16826
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| Dbxref | MIM:619780 |
|---|---|
| Subclassof | DOID_0070329, DOID_0050737 |
| Data Source | DOID |
| Synonyms | mitochondrial DNA depletion syndrome 20 (MNGIE type) |
| Doid Label | mitochondrial DNA depletion syndrome 20 |
| Doid Description | A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16826 |
| Doid Id | DOID_0070451 |
| Label | Mitochondrial Dna Depletion Syndrome 20 |
- Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Dna Depletion Syndrome(ID:disease_node_16818) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)