Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	glycogen storage disease XV
Synonyms	Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV
Definitions	A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1.
ID	http://purl.obolibrary.org/obo/DOID_0050579
database_cross_reference	OMIM:613507 ORDO:263297
definition	A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1.
has exact synonym	Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has symptom	http://purl.obolibrary.org/obo/SYMP_0000094
has_obo_namespace	disease_ontology
id	DOID:0050579
label	glycogen storage disease XV
notation	DOID:0050579
prefLabel	glycogen storage disease XV
subClassOf	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_2747

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/613507	Online Mendelian Inheritance in Man	LOOM