Mitochondrial Dna Depletion Syndrome 14
Disease ID: disease_node_16820
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| Dbxref | MIM:616896 |
|---|---|
| Subclassof | DOID_0070329 |
| Data Source | DOID |
| Doid Label | mitochondrial DNA depletion syndrome 14 |
| Doid Description | A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. |
| Has Phenotype | HP_0012758 |
| Disease Node Id | disease_node_16820 |
| Doid Id | DOID_0080336 |
| Label | Mitochondrial Dna Depletion Syndrome 14 |
- Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Dna Depletion Syndrome(ID:disease_node_16818) (Disease)