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Human Disease

primary coenzyme Q10 deficiency 9

Term ID
DOID:0112138
Synonyms
  • COQ10D9
Definition
A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. https://pubmed.ncbi.nlm.nih.gov/29044765/
References
Ontology
Human Disease   ( DOID:0112138 )
Relationships
is a type of
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Genes Involved
Zebrafish Models