| Metadata | |
|---|---|
| ID | DOID:0111163 |
| Name | molybdenum cofactor deficiency type B |
| Definition | A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. https://www.ncbi.nlm.nih.gov/pubmed/10053004 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1003368009 |
| Subsets |
DO_rare_slim |
| Synonyms |
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B [EXACT] MOCOD type B [EXACT] MOCODB [EXACT] molybdenum cofactor deficiency complementation group B [EXACT] |
| Parent Relationships |