Mitochondrial Complex Iv Deficiency Nuclear Type 13
Disease ID: disease_node_16786
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:616501, UMLS_CUI:C4225304 |
|---|---|
| Subclassof | DOID_0050713, DOID_0050737 |
| Data Source | DOID |
| Synonyms | MC4DN13, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 |
| Doid Label | mitochondrial complex IV deficiency nuclear type 13 |
| Doid Description | A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16786 |
| Doid Id | DOID_0080360 |
| Label | Mitochondrial Complex Iv Deficiency Nuclear Type 13 |
- 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)