Mitochondrial Complex Iv Deficiency Nuclear Type 4
Disease ID: disease_node_16776
Connections displayed (default: 10).
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| Dbxref | MIM:619048, UMLS_CUI:C5436683 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081377 |
| Data Source | DOID |
| Synonyms | MC4DN4 |
| Doid Label | mitochondrial complex IV deficiency nuclear type 4 |
| Doid Description | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16776 |
| Doid Id | DOID_0070493 |
| Label | Mitochondrial Complex Iv Deficiency Nuclear Type 4 |
- 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)