FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
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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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 molybdenum cofactor deficiency type B       1      1
 for disease ribbon | molybdenum cofactor deficiency type B       --       1
 model of | molybdenum cofactor deficiency type B       1      1
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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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Synonyms
  • "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" EXACT
    "MOCOD type B" EXACT
    "MOCODB" EXACT OMO:0003012
    "molybdenum cofactor deficiency complementation group B" EXACT
Secondary IDs
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MESH:C565373
MIM:252160
ORDO:308393
SNOMEDCT_US_2023_03_01:1003368009
UMLS_CUI:C1854989