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

Xenbase Genes : hlcs

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009666 - holocarboxylase synthetase deficiency

MIM:
MIM:253270 - HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

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

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