Mitochondrial Dna Depletion Syndrome 12A
Disease ID: disease_node_16823
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617184, NCI:C129977 |
|---|---|
| Subclassof | DOID_0050736, DOID_0070329 |
| Data Source | DOID |
| Doid Label | mitochondrial DNA depletion syndrome 12a |
| Doid Description | A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal domit inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16823 |
| Doid Id | DOID_0080130 |
| Label | Mitochondrial Dna Depletion Syndrome 12A |
- Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Dna Depletion Syndrome(ID:disease_node_16818) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)