Online Mendelian Inheritance in Man - GLYCOGEN STORAGE DISEASE IV - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/232500 http://purl.bioontology.org/ontology/OMIM/232500
Preferred Name	GLYCOGEN STORAGE DISEASE IV
Synonyms	GLYCOGENOSIS IV AMYLOPECTINOSIS GSD IV, NONPROGRESSIVE HEPATIC GSD4 BRANCHER DEFICIENCY GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL GSD IV, CLASSIC HEPATIC GSD IV, NEUROMUSCULAR FORM, CHILDHOOD ANDERSEN DISEASE GSD IV CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY GBE1 DEFICIENCY GSD IV, NEUROMUSCULAR FORM, CONGENITAL GLYCOGEN BRANCHING ENZYME DEFICIENCY See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GLYCOGENOSIS IV AMYLOPECTINOSIS GSD IV, NONPROGRESSIVE HEPATIC GSD4 BRANCHER DEFICIENCY GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL GSD IV, CLASSIC HEPATIC GSD IV, NEUROMUSCULAR FORM, CHILDHOOD ANDERSEN DISEASE GSD IV CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY GBE1 DEFICIENCY GSD IV, NEUROMUSCULAR FORM, CONGENITAL GLYCOGEN BRANCHING ENZYME DEFICIENCY See more See less
prefLabel	GLYCOGEN STORAGE DISEASE IV
Gene Symbol	APBD GBE1 GSD4
Scope Statement	Neuromuscular forms can present as perinate, infant, child, or adult [MISCELLANEOUS] Nonprogressive hepatic form is less frequent [MISCELLANEOUS] Extreme clinical heterogeneity [MISCELLANEOUS] Classic hepatic form begins in first months of life with hepatic failure and death by age 5 years [MISCELLANEOUS] Allelic disorder to adult polyglucosan body disease (263570) [MISCELLANEOUS] Caused by mutation in the glycogen branching enzyme gene (GBE1, 607839.0001) [MOLECULAR BASIS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU012648 http://purl.bioontology.org/ontology/OMIM/MTHU041919 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU003217 http://purl.bioontology.org/ontology/OMIM/MTHU010840 http://purl.bioontology.org/ontology/OMIM/MTHU012655 http://purl.bioontology.org/ontology/OMIM/MTHU036362 http://purl.bioontology.org/ontology/OMIM/MTHU004882 http://purl.bioontology.org/ontology/OMIM/MTHU012649 http://purl.bioontology.org/ontology/OMIM/MTHU037338 http://purl.bioontology.org/ontology/OMIM/MTHU012657 http://purl.bioontology.org/ontology/OMIM/MTHU012653 http://purl.bioontology.org/ontology/OMIM/MTHU037473 http://purl.bioontology.org/ontology/OMIM/MTHU012650 http://purl.bioontology.org/ontology/OMIM/MTHU012651 http://purl.bioontology.org/ontology/OMIM/MTHU012652 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU002081 http://purl.bioontology.org/ontology/OMIM/MTHU012658 http://purl.bioontology.org/ontology/OMIM/MTHU037219 http://purl.bioontology.org/ontology/OMIM/MTHU012654 See more See less
tui	T047
Gene Locus	3p12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	232500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1856305 C1856302 C2936914 C1856303 C1856304 C1856301 C1856306 C0017923 See more See less
OMIM Entry Type	3
OMIM MimType Value	pound

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