Mitochondrial Complex Iv Deficiency Nuclear Type 8
Disease ID: disease_node_16774
Connections displayed (default: 10).
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| Dbxref | MIM:619052, UMLS_CUI:C5436689 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081377 |
| Data Source | DOID |
| Synonyms | MC4DN8 |
| Doid Label | mitochondrial complex IV deficiency nuclear type 8 |
| Doid Description | A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16774 |
| Doid Id | DOID_0070495 |
| Label | Mitochondrial Complex Iv Deficiency Nuclear Type 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Cox Deficiency, Benign Infantile Mitochondrial Myopathy(ID:disease_node_16766) (Disease)