Multiple Mitochondrial Dysfunctions Syndrome 5
Disease ID: disease_node_16816
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| Dbxref | MIM:617613 |
|---|---|
| Subclassof | DOID_0050737, DOID_0070330 |
| Data Source | DOID |
| Doid Label | multiple mitochondrial dysfunctions syndrome 5 |
| Doid Description | A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16816 |
| Doid Id | DOID_0080274 |
| Label | Multiple Mitochondrial Dysfunctions Syndrome 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)