Summary Literature (0)

DOID:856 - biotinidase deficiency

Disease Ontology 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.

Synonyms: BTD deficiency , deficiency of biotinidase, deficiency of biotinidase (disorder), Juvenile-onset multiple carboxylase deficiency , Late-onset multiple carboxylase deficiency

Xenbase Genes : btd

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009665 - biotinidase deficiency

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee