Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/232220
http://purl.bioontology.org/ontology/OMIM/232220
Preferred Name

GLYCOGEN STORAGE DISEASE Ib
Synonyms
GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT
GSD Ib
GSD1B
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT
GSD Ib
GSD1B
prefLabel
GLYCOGEN STORAGE DISEASE Ib
Gene Symbol
CDG2W
G6PT1
SLC37A4
Scope Statement
Caused by mutation in the glucose-6-phosphate transporter 1 gene (G6PT1, 602671.0001) [MOLECULAR BASIS]
Recurrent bacterial infections [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001686
http://purl.bioontology.org/ontology/OMIM/MTHU012694
http://purl.bioontology.org/ontology/OMIM/MTHU012104
http://purl.bioontology.org/ontology/OMIM/MTHU012696
http://purl.bioontology.org/ontology/OMIM/MTHU012689
http://purl.bioontology.org/ontology/OMIM/MTHU012695
http://purl.bioontology.org/ontology/OMIM/MTHU012691
http://purl.bioontology.org/ontology/OMIM/MTHU036657
http://purl.bioontology.org/ontology/OMIM/MTHU000371
http://purl.bioontology.org/ontology/OMIM/MTHU012698
http://purl.bioontology.org/ontology/OMIM/MTHU012699
http://purl.bioontology.org/ontology/OMIM/MTHU012692
http://purl.bioontology.org/ontology/OMIM/MTHU036721
http://purl.bioontology.org/ontology/OMIM/MTHU012701
http://purl.bioontology.org/ontology/OMIM/MTHU004766
http://purl.bioontology.org/ontology/OMIM/MTHU003881
http://purl.bioontology.org/ontology/OMIM/MTHU012700
http://purl.bioontology.org/ontology/OMIM/MTHU002380
http://purl.bioontology.org/ontology/OMIM/MTHU012693
http://purl.bioontology.org/ontology/OMIM/MTHU002068
http://purl.bioontology.org/ontology/OMIM/MTHU012690
http://purl.bioontology.org/ontology/OMIM/MTHU002043
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU000013
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU005463
http://purl.bioontology.org/ontology/OMIM/MTHU012697
http://purl.bioontology.org/ontology/OMIM/MTHU008946
http://purl.bioontology.org/ontology/OMIM/MTHU009452
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tui
T047
Gene Locus
11q23
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
232220
Semantic type UMLS property
Has inheritance type
cui
C0268146
OMIM Entry Type
3
OMIM MimType Value
pound
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