Mitochondrial Complex Iv Deficiency Nuclear Type 2
Disease ID: disease_node_16789
Connections displayed (default: 10).
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| Dbxref | MIM:604377, UMLS_CUI:C5399977 |
|---|---|
| Subclassof | DOID_0050713, DOID_0050737 |
| Data Source | DOID |
| Synonyms | MC4DN2, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 |
| Doid Label | mitochondrial complex IV deficiency nuclear type 2 |
| Doid Description | A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16789 |
| Doid Id | DOID_0080357 |
| Label | Mitochondrial Complex Iv Deficiency Nuclear Type 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Cox Deficiency, Infantile Mitochondrial Myopathy(ID:disease_node_16785) (Disease)