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Date: Tue Jan 28 2025
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molybdenum cofactor deficiency
DOID:0111165
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
molybdenum cofactor deficiency
Definition
A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.
[1]
[2]
[3]
Synonyms
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
MOCOD
Cross References
GARD:3705
ICD10CM:E72.1
Show All 5
Parent Terms
metal metabolism disorder
Child Terms
molybdenum cofactor deficiency type A
molybdenum cofactor deficiency type B
Show All 3
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
Associated Alleles
Associated Models
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