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Summary Literature (0)
DOID:859 - holocarboxylase synthetase deficiency

Disease Ontology Definition:A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.

Synonyms: Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder), Multiple carboxylase deficiency - neonatal onset (disorder)

Echinobase Genes : hlcs

OMIM:253270 - holocarboxylase synthetase deficiency

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): multiple carboxylase deficiency (is_a)