Online Mendelian Inheritance in Man - GLYCOGEN STORAGE DISEASE 0, MUSCLE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/611556 http://purl.bioontology.org/ontology/OMIM/611556
Preferred Name	GLYCOGEN STORAGE DISEASE 0, MUSCLE
Synonyms	MUSCLE GLYCOGEN STORAGE DISEASE 0 GSD0B MUSCLE GLYCOGEN SYNTHASE DEFICIENCY GSD 0b
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MUSCLE GLYCOGEN STORAGE DISEASE 0 GSD0B MUSCLE GLYCOGEN SYNTHASE DEFICIENCY GSD 0b
prefLabel	GLYCOGEN STORAGE DISEASE 0, MUSCLE
Gene Symbol	GYS GYS1
notation	611556
Scope Statement	Risk of sudden death in childhood due to cardiac arrest [MISCELLANEOUS] Caused by mutation in glycogen synthase 1 gene (GYS1, 138570.0001) [MOLECULAR BASIS]
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/MTHU031225 http://purl.bioontology.org/ontology/OMIM/MTHU046324 http://purl.bioontology.org/ontology/OMIM/MTHU046318 http://purl.bioontology.org/ontology/OMIM/MTHU002377 http://purl.bioontology.org/ontology/OMIM/MTHU046320 http://purl.bioontology.org/ontology/OMIM/MTHU046319 http://purl.bioontology.org/ontology/OMIM/MTHU046321 http://purl.bioontology.org/ontology/OMIM/MTHU046325 http://purl.bioontology.org/ontology/OMIM/MTHU046323 http://purl.bioontology.org/ontology/OMIM/MTHU011914 http://purl.bioontology.org/ontology/OMIM/MTHU046322 http://purl.bioontology.org/ontology/OMIM/MTHU046326 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	19q13.3
tui	T047
cui	C1969054

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