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| Term | molybdenum cofactor deficiency type B | ID (Ontology) | DOID:0111163 (Human Disease) |
| Definition | A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. | ||
| Also Known As | "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" ; "MOCOD type B" ; "MOCODB" (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 B 2 rec. |
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| Is a | molybdenum cofactor deficiency | ||
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External Crossreferences & Linkouts
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MESH:C565373 MIM:252160 ORDO:308393 SNOMEDCT_US_2023_03_01:1003368009 UMLS_CUI:C1854989 |
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