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 |
SNOMEDCT_US_2023_03_01:15307001 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
Biotin-(propionyl-CoA-carboxylase) ligase deficiency [EXACT] Multiple carboxylase deficiency - neonatal onset [EXACT] |
Parent Relationships |