Mitochondrial Complex Iv Deficiency Nuclear Type 23
Disease ID: disease_node_16784
Connections displayed (default: 10).
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| Dbxref | MIM:620275, UMLS_CUI:C5830322 |
|---|---|
| Subclassof | DOID_3762, DOID_0050737 |
| Data Source | DOID |
| Synonyms | MC4DN23 |
| Doid Label | mitochondrial complex IV deficiency nuclear type 23 |
| Doid Description | A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16784 |
| Doid Id | DOID_0070485 |
| Label | Mitochondrial Complex Iv Deficiency Nuclear Type 23 |
- Outgoing r'ship
SUBCLASS_OFto/from Cytochrome-C Oxidase Deficiency(ID:disease_node_11065) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)