FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term holocarboxylase synthetase deficiency ID (Ontology) DOID:859 (Human Disease)
Definition A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
Also Known As "Biotin-(propionyl-CoA-carboxylase) ligase deficiency" ; "Multiple carboxylase deficiency - neonatal onset"
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 Genes
 holocarboxylase synthetase deficiency       1
 for disease ribbon | holocarboxylase synthetase deficiency       1
 model of | holocarboxylase synthetase deficiency       1
Spanning Tree (Parents/Children)
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carbohydrate metabolic disorder__
amino acid metabolic disorder____|
                                 multiple carboxylase deficiency
                                  |__holocarboxylase synthetase deficiency  1 rec.
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Is a multiple carboxylase deficiency
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Synonyms
  • "Biotin-(propionyl-CoA-carboxylase) ligase deficiency" EXACT
    "Multiple carboxylase deficiency - neonatal onset" EXACT
Secondary IDs
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GARD:2721
ICD10CM:D81.818
MESH:D028922
MIM:253270
NCI:C98842
SNOMEDCT_US_2023_03_01:15307001
UMLS_CUI:C0268581