Holocarboxylase Synthetase Deficiency
Disease ID: disease_node_10990
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| Dbxref | GARD:2721, ICD10CM:D81.818, MESH:D028922, MIM:253270, NCI:C98842, SNOMEDCT_US_2023_03_01:15307001, UMLS_CUI:C0268581 |
|---|---|
| Subclassof | DOID_857 |
| Data Source | DOID, MESH |
| Synonyms | Biotin-(propionyl-CoA-carboxylase) ligase deficiency, Multiple carboxylase deficiency - neonatal onset |
| Mesh Id | D028922 |
| Mesh Label | Holocarboxylase Synthetase Deficiency |
| Mesh Subclassof | D009100 |
| Doid Label | holocarboxylase synthetase deficiency |
| Doid Description | A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_10990 |
| Doid Id | DOID_859 |
| Label | Holocarboxylase Synthetase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Multiple Carboxylase Deficiency(ID:disease_node_5280) (Disease)