| Metadata | |
|---|---|
| ID | DOID:0111164 |
| Name | molybdenum cofactor deficiency type A |
| Definition | A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/9731530 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1003367004 |
| Subsets |
DO_rare_slim |
| Synonyms |
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A [EXACT] MOCOD type A [EXACT] MOCODA [EXACT] molybdenum cofactor deficiency complementation group A [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |