| Metadata | |
|---|---|
| ID | DOID:0111459 |
| Name | classic galactosemia |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:398664009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
galactose-1-phosphate uridyltransferase deficiency [EXACT] galactosemia type 1 [EXACT] GALT deficiency [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a galactosemia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |