biotinidase deficiency

Summary

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:253260 - biotinidase deficiency multiple carboxylase deficiency, late-onset;; multiple carboxylase deficiency, juvenile-onset;; btd deficiency

MIM:253260 - biotinidase deficiency multiple carboxylase deficiency, late-onset;; multiple carboxylase deficiency, juvenile-onset;; btd deficiency

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

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

Parent(s): autosomal recessive disease (is_a), multiple carboxylase deficiency (is_a)