Version: 8.0.0
Date: Tue Jan 28 2025
biotinidase deficiency
DOID:856
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

biotinidase deficiency

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.
Synonyms
  • BTD deficiency
  • deficiency of biotinidase
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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