| Metadata | |
|---|---|
| ID | DOID:0060969 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060969 Copy |
| Name | galactosemia 4 |
| 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. https://pubmed.ncbi.nlm.nih.gov/30451973/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Galactose mutarotase deficiency [EXACT] Galactosemia type 4 [EXACT] GALM deficiency [EXACT] |
| Parent Relationships |
is_a galactosemia |