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Disease Ontology Browser
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory