classic galactosemia

Term ID

DOID:0111459

Synonyms

• galactose-1-phosphate uridyltransferase deficiency
• galactosemia type 1
• GALT deficiency

Definition

A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3. https://www.ncbi.nlm.nih.gov/pubmed/11261429

References

• GARD:13639
• MESH:D005693
• MIM:230400
• NCI:C99104
• ORDO:79239
• SNOMEDCT_US_2023_03_01:398664009
• UMLS_CUI:C0268151

Ontology

Human Disease   ( DOID:0111459 )