FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term biotinidase deficiency ID (Ontology) DOID:856 (Human Disease)
Definition A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.
Also Known As "BTD deficiency" ; "deficiency of biotinidase" ; "Juvenile-onset multiple carboxylase deficiency" (for all, see Synonyms field below)
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 Alleles Genes
 biotinidase deficiency       --       4
 ameliorates | infectious mononucleosis      17       --
 exacerbates | infectious mononucleosis      33       --
 for disease ribbon | biotinidase deficiency       --       4
 for disease ribbon | Hodgkin's lymphoma       --       1
 model of | biotinidase deficiency       --       4
 model of | Hodgkin's lymphoma       --       1
 model of | infectious mononucleosis       3       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______
carbohydrate metabolic disorder      |
 |__multiple carboxylase deficiency__|
amino acid metabolic disorder        |
 |__multiple carboxylase deficiency__|
                                     biotinidase deficiency  4 rec.
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Is a autosomal recessive disease
multiple carboxylase deficiency
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Synonyms
  • "BTD deficiency" EXACT
    "deficiency of biotinidase" EXACT
    "Juvenile-onset multiple carboxylase deficiency" EXACT
    "Late-onset multiple carboxylase deficiency" EXACT
Secondary IDs
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GARD:894
ICD10CM:D81.810
MESH:D028921
MIM:253260
NCI:C84598
SNOMEDCT_US_2023_03_01:8808004
UMLS_CUI:C0220754