Mitochondrial Dna Depletion Syndrome 15
Disease ID: disease_node_16819
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| Dbxref | MIM:617156 |
|---|---|
| Subclassof | DOID_0050737, DOID_0070329 |
| Data Source | DOID |
| Doid Label | mitochondrial DNA depletion syndrome 15 |
| Doid Description | A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16819 |
| Doid Id | DOID_0080337 |
| Label | Mitochondrial Dna Depletion Syndrome 15 |
- 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)