Version: 8.0.0
Date: Tue Jan 28 2025
molybdenum cofactor deficiency type C
DOID:0111166
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

molybdenum cofactor deficiency type C

Definition
A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23.
Synonyms
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
  • MOCOD type C
Cross References
Parent Terms
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Sources of Associations

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