| Metadata | |
|---|---|
| ID | DOID:0111165 |
| Name | molybdenum cofactor deficiency |
| Definition | A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. https://en.wikipedia.org/wiki/Molybdenum_cofactor_deficiency, https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/10746556 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase [EXACT] MOCOD [EXACT] |
| Parent Relationships |