galactosemia 4

created [InstanceEdit:9931901] Rothfels, Karen, 2024-12-13
databaseName DOID
dbId 9931899
definition A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22.
displayName galactosemia 4
identifier 0060969
name
  • galactosemia 4
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • GALM deficiency
  • Galactosemia type 4
  • Galactose mutarotase deficiency
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:0060969
Cite Us!