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DO Term : primary coenzyme Q10 deficiency 9 [DOID:0112138] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 619028,
  • COQ10D9,
  • OMIM:619028
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents