Term Name: | molybdenum cofactor deficiency type A |
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Synonyms: | combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A, MOCOD type A, MOCODA, molybdenum cofactor deficiency complementation group A |
Definition: | A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. |
Ontology: | Human Disease [DOID:0111164] ( DOID:0111164 ) |