Search Ontology:
Human Disease
mitochondrial complex IV deficiency nuclear type 13
- Term ID
- DOID:0080360
- Synonyms
-
- fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
- MC4DN13
- Definition
- A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/25339201/
- References
-
- MIM:616501
- UMLS_CUI:C4225304
- Ontology
- Human Disease ( DOID:0080360 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| COA6 | Mitochondrial complex IV deficiency, nuclear type 13 | mitochondrial complex IV deficiency nuclear type 13 | 616501 |
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Zebrafish Models
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