Version: 8.0.0
Date: Tue Jan 28 2025
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combined oxidative phosphorylation deficiency 20
DOID:0111478
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
combined oxidative phosphorylation deficiency 20
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33.
[1]
Synonyms
COXPD20
Cross References
MIM:615917
ORDO:420728
Parent Terms
autosomal recessive disease
combined oxidative phosphorylation deficiency
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
Associated Alleles
Associated Models
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