Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614921
http://purl.bioontology.org/ontology/OMIM/614921
Preferred Name

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
Synonyms
PHOSPHOGLUCOMUTASE 1 DEFICIENCY
GLYCOGEN STORAGE DISEASE XIV
CDGIt
CDG It
GSD XIV
PGM1 DEFICIENCY
GSD14
CDG1T
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
PHOSPHOGLUCOMUTASE 1 DEFICIENCY
GLYCOGEN STORAGE DISEASE XIV
CDGIt
CDG It
GSD XIV
PGM1 DEFICIENCY
GSD14
CDG1T
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prefLabel
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
Gene Symbol
PGM1
CDG1T
GSD14
Scope Statement
Increased susceptibility to malignant hyperthermia [MISCELLANEOUS]
Highly variable phenotype and severity [MISCELLANEOUS]
Caused by mutation in the phosphoglucomutase-1 gene (PGM1, 171900.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU061072
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU000660
http://purl.bioontology.org/ontology/OMIM/MTHU014551
http://purl.bioontology.org/ontology/OMIM/MTHU001174
http://purl.bioontology.org/ontology/OMIM/MTHU001652
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU071190
http://purl.bioontology.org/ontology/OMIM/MTHU036871
http://purl.bioontology.org/ontology/OMIM/MTHU046632
http://purl.bioontology.org/ontology/OMIM/MTHU046633
http://purl.bioontology.org/ontology/OMIM/MTHU037168
http://purl.bioontology.org/ontology/OMIM/MTHU014054
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU069477
http://purl.bioontology.org/ontology/OMIM/MTHU040599
http://purl.bioontology.org/ontology/OMIM/MTHU024633
http://purl.bioontology.org/ontology/OMIM/MTHU004882
http://purl.bioontology.org/ontology/OMIM/MTHU037221
http://purl.bioontology.org/ontology/OMIM/MTHU037132
http://purl.bioontology.org/ontology/OMIM/MTHU036721
http://purl.bioontology.org/ontology/OMIM/MTHU048285
http://purl.bioontology.org/ontology/OMIM/MTHU046629
http://purl.bioontology.org/ontology/OMIM/MTHU011439
http://purl.bioontology.org/ontology/OMIM/MTHU010062
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU004640
http://purl.bioontology.org/ontology/OMIM/MTHU040600
http://purl.bioontology.org/ontology/OMIM/MTHU004823
http://purl.bioontology.org/ontology/OMIM/MTHU036873
http://purl.bioontology.org/ontology/OMIM/MTHU000966
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
1p31
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614921
Semantic type UMLS property
Has inheritance type
cui
C2752015
Moved from
612934
OMIM Entry Type
3
OMIM MimType Value
pound
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