Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Disease ID: disease_node_20322
Connections displayed (default: 10).
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| Dbxref | MIM:614388 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID |
| Doid Label | encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
| Doid Description | A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood. |
| Has Symptom | SYMP_0020049 |
| Disease Node Id | disease_node_20322 |
| Doid Id | DOID_0070347 |
| Label | Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
- Outgoing r'ship
HAS_SYMPTOMto/from Delayed Psychomotor Development(ID:disease_node_21469) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)