Search Ontology:
Human Disease
primary coenzyme Q10 deficiency 7
- Term ID
- DOID:0070244
- Synonyms
-
- coenzyme Q10 deficiency, primary, 7
- COQ10D7
- COQ4-related neonatal encephalomyopathy
- neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
- Definition
- A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. https://www.ncbi.nlm.nih.gov/pubmed/25658047
- References
-
- MIM:616276
- ORDO:457185
- Ontology
- Human Disease ( DOID:0070244 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models