Mitochondrial Complex Iv Deficiency Nuclear Type 1
Disease ID: disease_node_16778
Connections displayed (default: 10).
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| Dbxref | MIM:220110, NCI:C176895, UMLS_CUI:C5435656 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081377 |
| Data Source | DOID |
| Synonyms | MC4DN1 |
| Doid Label | mitochondrial complex IV deficiency nuclear type 1 |
| Doid Description | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16778 |
| Doid Id | DOID_0070491 |
| Label | Mitochondrial Complex Iv Deficiency Nuclear Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Cox Deficiency, Benign Infantile Mitochondrial Myopathy(ID:disease_node_16766) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)