biotinidase deficiency (DOID:856)
Alliance: disease page
Synonyms: BTD deficiency; deficiency of biotinidase; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency
Alt IDs: OMIM:253260, ICD10CM:D81.810, MESH:D028921, NCI:C84598, UMLS_CUI:C0220754
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.