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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

GARD:13639

MESH:D005693

MIM:230400

NCI:C99104

ORDO:79239

SNOMEDCT_US_2023_03_01:398664009

UMLS_CUI:C0268151

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

galactose-1-phosphate uridyltransferase deficiency [EXACT]

galactosemia type 1 [EXACT]

GALT deficiency [EXACT]

Parent Relationships

is_a galactosemia

is_a autosomal recessive disease

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