Term Name: | biotinidase deficiency |
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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. |
Ontology: | Human Disease [DOID:856] ( DOID:856 ) |