Search Ontology:
Human Disease
molybdenum cofactor deficiency type C
- Term ID
- DOID:0111166
- Synonyms
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- 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
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- MESH:C565374
- MIM:615501
- ORDO:308400
- SNOMEDCT_US_2023_03_01:1003387003
- UMLS_CUI:C1854990
- Ontology
- Human Disease ( DOID:0111166 )
- is a type of
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Genes Involved
Zebrafish Models