Search Ontology:
Human Disease

molybdenum cofactor deficiency type C

Term ID
DOID:0111166
Synonyms
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
  • MOCOD type C
  • MOCODC
  • molybdenum cofactor deficiency complementation group C
Definition
A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. https://www.ncbi.nlm.nih.gov/pubmed/11095995
References
Ontology
Human Disease   ( DOID:0111166 )
Relationships
is a type of
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Genes Involved
Zebrafish Models