Mitochondrial Dna Depletion Syndrome 13
Disease ID: disease_node_16822
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:13298, MIM:615471, ORDO:369897 |
|---|---|
| Subclassof | DOID_0070329, DOID_0050737 |
| Data Source | DOID |
| Synonyms | FBXL4 deficiency, FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome 13, encephalomyopathic type |
| Doid Label | mitochondrial DNA depletion syndrome 13 |
| Doid Description | A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16822 |
| Doid Id | DOID_0080131 |
| Label | Mitochondrial Dna Depletion Syndrome 13 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Dna Depletion Syndrome(ID:disease_node_16818) (Disease)