Mitochondrial Dna Depletion Syndrome-21
Disease ID: disease_node_16832
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| Dbxref | MIM:621071 |
|---|---|
| Subclassof | DOID_0070329 |
| Data Source | DOID |
| Doid Label | mitochondrial DNA depletion syndrome-21 |
| Doid Description | A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. |
| Disease Node Id | disease_node_16832 |
| Doid Id | DOID_0051029 |
| Label | Mitochondrial Dna Depletion Syndrome-21 |
- Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Dna Depletion Syndrome(ID:disease_node_16818) (Disease)