Galactosemias
Disease ID: disease_node_3363
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| Dbxref | GARD:5392, MESH:D005693, MIM:230350, ORDO:79238, SNOMEDCT_US_2023_03_01:8849004, UMLS_CUI:C0751161 |
|---|---|
| Subclassof | DOID_0050737, DOID_9870 |
| Data Source | DOID, MESH |
| Synonyms | GALE deficiency, GALE-D, UDP-galactose-4-epimerase deficiency, epimerase deficiency galactosemia, galactosemia III, galactosemia type 3, uridine diphosphate galactose-4-epimerase deficiency |
| Mesh Id | D005693 |
| Mesh Label | Galactosemias |
| Mesh Subclassof | D002239, D020739 |
| Doid Label | galactose epimerase deficiency |
| Doid Description | A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_3363 |
| Doid Id | DOID_0111458 |
| Label | Galactosemias |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)