Cytochrome-C Oxidase Deficiency
Disease ID: disease_node_11065
Connections displayed (default: 10).
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| Dbxref | GARD:48, MESH:D030401, MIM:PS220110, NCI:C98910, SNOMEDCT_US_2023_03_01:237991006, UMLS_CUI:C0268237 |
|---|---|
| Subclassof | DOID_700 |
| Data Source | DOID, MESH |
| Synonyms | MITOCHONDRIAL COMPLEX IV DEFICIENCY |
| Mesh Id | D030401 |
| Mesh Label | Cytochrome-c Oxidase Deficiency |
| Mesh Subclassof | D028361, D008661 |
| Doid Label | cytochrome-c oxidase deficiency disease |
| Doid Description | A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000470 |
| Disease Node Id | disease_node_11065 |
| Doid Id | DOID_3762 |
| Label | Cytochrome-C Oxidase Deficiency |
- Outgoing r'ship
HAS_SYMPTOMto/from Left Upper Quadrant Abdominal Rigidity(ID:disease_node_21557) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Mitochondrial Complex Iv Deficiency Nuclear Type 23(ID:disease_node_16784) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Leigh Disease(ID:disease_node_4615) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cox Deficiency, Benign Infantile Mitochondrial Myopathy(ID:disease_node_16766) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Diseases(ID:disease_node_10985) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cox Deficiency, Infantile Mitochondrial Myopathy(ID:disease_node_16785) (Disease)