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DO Term : biotinidase deficiency [DOID:856] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • UMLS_CUI:C0220754,
  • GARD:894,
  • ICD10CM:D81.810,
  • BTD deficiency,
  • NCI:C84598,
  • SNOMEDCT_US_2023_03_01:8808004,
  • OMIM:253260,
  • 253260,
  • MESH:D028921,
  • Late-onset multiple carboxylase deficiency,
  • deficiency of biotinidase,
  • Juvenile-onset multiple carboxylase deficiency
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