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| Term | molybdenum cofactor deficiency type A | ID (Ontology) | DOID:0111164 (Human Disease) |
| Definition | A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. | ||
| Also Known As | "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" ; "MOCOD type A" ; "MOCODA" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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metal metabolism disorder |__molybdenum cofactor deficiency |__molybdenum cofactor deficiency type A 1 rec. |
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| Is a | molybdenum cofactor deficiency | ||
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External Crossreferences & Linkouts
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MESH:C565372 MIM:252150 ORDO:308386 SNOMEDCT_US_2023_03_01:1003367004 UMLS_CUI:C1854988 |
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