OBO ID: DOID:0111166
Term Name: molybdenum cofactor deficiency type C Search Ontology:
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)
OTHER molybdenum cofactor deficiency type C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GPHN Molybdenum cofactor deficiency C 615501
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None