molybdenum cofactor deficiency type A
Go to external page http://purl.obolibrary.org/obo/DOID_0111164
A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/9731530 ]
Synonyms: molybdenum cofactor deficiency complementation group A MOCODA MOCOD type A combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
Term information
- UMLS_CUI:C1854988
- MESH:C565372
- MIM:252150
- SNOMEDCT_US_2023_03_01:1003367004
- ORDO:308386
DO_rare_slim