Disease association ontology term - MONDO:0018151 - coenzyme Q10 deficiency

Term summary

ID: MONDO:0018151
Name: coenzyme Q10 deficiency
Ontology or CV name: Disease association
Definition: A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.

Parents

is_a mitochondrial oxidative phosphorylation disorder
is_a hereditary peripheral neuropathy

Annotation

Disease association

MONDO:0018151 - coenzyme Q10 deficiency

References:

Genes:

MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

References:

PB_REF:0000006

Genes:

coq8 (SPBC2D10.18)

MONDO:0011829 - coenzyme Q10 deficiency, primary, 1

References:

Genes:

ppt1 (SPAC56F8.04c)

MONDO:0013838 - coenzyme Q10 deficiency, primary, 3

References:

PB_REF:0000006

Genes:

dlp1 (SPAC19G12.12)

MONDO:0033615 - coenzyme q10 deficiency, primary, 9

References:

PB_REF:0000006

Genes:

coq5 (SPCC4G3.04c)

MONDO:0013837 - deafness-encephaloneuropathy-obesity-valvulopathy syndrome

References:

PB_REF:0000006

Genes:

dps1 (SPBPJ4664.01)

MONDO:0013840 - encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

References:

PB_REF:0000006

Genes:

coq9 (SPAC19G12.11)

MONDO:0013836 - familial steroid-resistant nephrotic syndrome with sensorineural deafness

References:

PB_REF:0000006

Genes:

coq6 (SPBC146.12)

MONDO:0014562 - neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

References:

PB_REF:0000006

Genes:

coq4 (SPAC1687.12c)

MONDO:0014754 - primary coenzyme Q10 deficiency 8

References:

PB_REF:0000006

Genes:

coq7 (SPBC337.15c)