Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/230400 http://purl.bioontology.org/ontology/OMIM/230400
Preferred Name	GALACTOSEMIA I
Synonyms	GALT DEFICIENCY GALACTOSEMIA, DUARTE VARIANT GALAC1 GALACTOSEMIA, CLASSIC GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GALT DEFICIENCY GALACTOSEMIA, DUARTE VARIANT GALAC1 GALACTOSEMIA, CLASSIC GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
prefLabel	GALACTOSEMIA I
Gene Symbol	GALT
notation	230400
Scope Statement	Caused by mutation in galactose-1-phosphate uridyltransferase gene (GALT, 606999.0001) [MOLECULAR BASIS] High incidence of E. coli sepsis in untreated neonates [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006276 http://purl.bioontology.org/ontology/OMIM/MTHU012906 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU012910 http://purl.bioontology.org/ontology/OMIM/MTHU012908 http://purl.bioontology.org/ontology/OMIM/MTHU041910 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU012911 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU012909 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU012904 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	9p13
tui	T047
cui	C0268151 C3278146

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