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 galactosemia |