OBO ID: DOID:856 |
Term Name: | biotinidase deficiency | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:856 ) |
OTHER biotinidase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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