Mitochondrial Dna Depletion Syndrome 4B
Disease ID: disease_node_16825
Connections displayed (default: 10).
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| Dbxref | MIM:613662, ORDO:298 |
|---|---|
| Subclassof | DOID_0070329, DOID_0050737 |
| Data Source | DOID |
| Synonyms | mitochondrial neurogastrointestinal encephalopathy syndrome |
| Doid Label | mitochondrial DNA depletion syndrome 4b |
| Doid Description | A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene (POLG) on chromosome 15q26. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16825 |
| Doid Id | DOID_0080123 |
| Label | Mitochondrial Dna Depletion Syndrome 4B |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - 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)