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Metadata
ID 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
Xrefs

GARD:2721

ICD10CM:D81.818

MESH:D028922

NCI:C98842

OMIM:253270

SNOMEDCT_US_2023_03_01:15307001

UMLS_CUI:C0268581

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

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

Multiple carboxylase deficiency - neonatal onset [EXACT]

Parent Relationships

is_a multiple carboxylase deficiency

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