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Metadata
DOID DOID:859
Name holocarboxylase synthetase deficiency
Definition A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.
http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency
Synonyms

Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder) [EXACT]

Multiple carboxylase deficiency - neonatal onset (disorder) [EXACT]

Xrefs

ICD10CM:D81.818

MESH:D028922

NCI:C98842

NCI:C99247

OMIM:253270

SNOMEDCT_US_2016_03_01:15307001

SNOMEDCT_US_2016_03_01:237956003

SNOMEDCT_US_2016_03_01:360367001

SNOMEDCT_US_2016_03_01:360369003

UMLS_CUI:C0268581

Relationships

is_a multiple carboxylase deficiency

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