| Metadata | |
|---|---|
| ID | DOID:859 |
| PURL | http://purl.obolibrary.org/obo/DOID_859 Copy |
| 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_2025_09_01:15307001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Biotin-(propionyl-CoA-carboxylase) ligase deficiency [EXACT] Multiple carboxylase deficiency - neonatal onset [EXACT] |
| Parent Relationships |