Search Ontology:
Human Disease
primary coenzyme Q10 deficiency 2
- Term ID
- DOID:0070239
- Synonyms
-
- coenzyme Q10 deficiency, primary, 2
- COQ10D2
- deafness-encephaloneuropathy-obesity-valvulopathy syndrome
- hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
- Definition
- A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. https://www.ncbi.nlm.nih.gov/pubmed/17332895
- References
-
- MIM:614651
- ORDO:254898
- Ontology
- Human Disease ( DOID:0070239 )
- is a type of
-
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