FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term multiple carboxylase deficiency ID (Ontology) DOID:857 (Human Disease)
Definition An amino acid metabolic disorder that involves failures of carboxylation enzymes.
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inherited metabolic disorder
 |__carbohydrate metabolic disorder__
 |__amino acid metabolic disorder____|
                                     multiple carboxylase deficiency  5 rec.
                                      |__biotinidase deficiency 4 rec.
                                      |__holocarboxylase synthetase deficiency 1 rec.
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Is a carbohydrate metabolic disorder
amino acid metabolic disorder
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Synonyms
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GARD:3824
ICD10CM:D81.81
MESH:D009100
SNOMEDCT_US_2023_03_01:62151000119109
UMLS_CUI:C0026755