Cox Deficiency, Infantile Mitochondrial Myopathy
Disease ID: disease_node_16785
Connections displayed (default: 10).
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| Dbxref | ORDO:1561, UMLS_CUI:C4273730 |
|---|---|
| Subclassof | DOID_3762 |
| Data Source | DOID |
| Synonyms | cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, fatal infantile COX deficiency, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency, fatal infantile cytochrome C oxidase deficiency, fatal infantile encephalocardiomyopathy |
| Doid Label | COX deficiency, infantile mitochondrial myopathy |
| Doid Description | A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. Xref MGI. |
| Disease Node Id | disease_node_16785 |
| Doid Id | DOID_0050713 |
| Label | Cox Deficiency, Infantile Mitochondrial Myopathy |
- Incoming r'ship
SUBCLASS_OFto/from Mitochondrial Complex Iv Deficiency Nuclear Type 9(ID:disease_node_16787) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Mitochondrial Complex Iv Deficiency Nuclear Type 13(ID:disease_node_16786) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Mitochondrial Complex Iv Deficiency Nuclear Type 6(ID:disease_node_16788) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Mitochondrial Complex Iv Deficiency Nuclear Type 2(ID:disease_node_16789) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Cytochrome-C Oxidase Deficiency(ID:disease_node_11065) (Disease)