OBO ID: DOID:856
Term Name: biotinidase deficiency Search Ontology:
Synonyms:
  • BTD deficiency
  • deficiency of biotinidase
  • Juvenile-onset multiple carboxylase deficiency
  • Late-onset multiple carboxylase 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. (2)
References:
Ontology: Human Disease   ( DOID:856 )
OTHER biotinidase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BTD Biotinidase deficiency 253260
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None