Propionic Acidemia
Disease ID: disease_node_12243
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| Dbxref | GARD:467, ICD10CM:E71.121, MESH:D056693, MIM:606054, NCI:C85030, SNOMEDCT_US_2023_03_01:69080001, UMLS_CUI:C0268579, UMLS_CUI:C2717876 |
|---|---|
| Subclassof | DOID_0060159 |
| Data Source | DOID, MESH |
| Synonyms | GLYCINEMIA, KETOTIC, KETOTIC HYPERGLYCINEMIA, ketotic II glycinemia, ketotic glycinemia, propionic aciduria, propionyl-CoA carboxylase deficiency |
| Mesh Id | D056693 |
| Mesh Label | Propionic Acidemia |
| Mesh Subclassof | D000592 |
| Doid Label | propionic acidemia |
| Doid Description | An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_12243 |
| Doid Id | DOID_14701 |
| Label | Propionic Acidemia |
| Doid Alternate Ids | DOID_14706 |
- Outgoing r'ship
SUBCLASS_OFto/from Organic Acidemia(ID:disease_node_19193) (Disease)