| Metadata | |
|---|---|
| ID | DOID:0111166 |
| Name | molybdenum cofactor deficiency type 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1003387003 |
| Subsets |
DO_rare_slim |
| Synonyms |
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C [EXACT] MOCOD type C [EXACT] MOCODC [EXACT] molybdenum cofactor deficiency complementation group C [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |