Disease

primary coenzyme Q10 deficiency 2

Name: primary coenzyme Q10 deficiency 2
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0070239 primary coenzyme Q10 deficiency 2 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome coenzyme Q10 deficiency, primary, 2 deafness-encephaloneuropathy-obesity-valvulopathy syndrome COQ10D2

Definition

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.

Synonyms

coenzyme Q10 deficiency, primary, 2
COQ10D2

Cross References

MIM:614651
ORDO:254898

Parent Terms

coenzyme Q10 deficiency disease

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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