holocarboxylase synthetase deficiency Disease Ontology Browser

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Disease Ontology Browser

holocarboxylase synthetase deficiency (DOID:859)
Alliance: disease page
Synonyms: Biotin-(propionyl-CoA-carboxylase) ligase deficiency; Multiple carboxylase deficiency - neonatal onset
Alt IDs: OMIM:253270, ICD10CM:D81.818, MESH:D028922, NCI:C98842, UMLS_CUI:C0268581
Definition: A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.

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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