Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE
Synonyms

GALACTOSEMIA I

GALACTOSEMIA, DUARTE VARIANT

GALT POLYMORPHISM (LOS ANGELES, D1)

GALT

GALT POLYMORPHISM (DUARTE, D2)

GALT POLYMORPHISM

GALT/IL11RA SPLICED READ-THROUGH TRANSCRIPT

ID

http://purl.bioontology.org/ontology/OMIM/606999

altLabel

GALACTOSEMIA I

GALACTOSEMIA, DUARTE VARIANT

GALT POLYMORPHISM (LOS ANGELES, D1)

GALT

GALT POLYMORPHISM (DUARTE, D2)

GALT POLYMORPHISM

GALT/IL11RA SPLICED READ-THROUGH TRANSCRIPT

cui

C0268151

C4017050

C1414962

C4017052

C4017051

C3278146

Gene Locus

9p13

Gene Symbol

GALT

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/606999.0016

http://purl.bioontology.org/ontology/OMIM/606999.0013

http://purl.bioontology.org/ontology/OMIM/606999.0017

http://purl.bioontology.org/ontology/OMIM/606999.0011

http://purl.bioontology.org/ontology/OMIM/606999.0014

http://purl.bioontology.org/ontology/OMIM/606999.0010

http://purl.bioontology.org/ontology/OMIM/606999.0015

http://purl.bioontology.org/ontology/OMIM/606999.0012

http://purl.bioontology.org/ontology/OMIM/606999.0004

http://purl.bioontology.org/ontology/OMIM/606999.0003

http://purl.bioontology.org/ontology/OMIM/606999.0009

http://purl.bioontology.org/ontology/OMIM/606999.0006

http://purl.bioontology.org/ontology/OMIM/606999.0001

http://purl.bioontology.org/ontology/OMIM/606999.0007

http://purl.bioontology.org/ontology/OMIM/606999.0002

http://purl.bioontology.org/ontology/OMIM/606999.0008

http://purl.bioontology.org/ontology/OMIM/606999.0005

MIMTYPEMEANING

Gene with known sequence

notation

606999

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE

tui

T047

T033

T028

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