ZFIN Human Disease: glycogen storage disease XV

OBO ID: DOID:0050579

Term Name:	glycogen storage disease XV		Search Ontology:
Synonyms:	Glycogen storage disease 15 glycogen storage disease type XV Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
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. https://www.omim.org/entry/613507
References:	OMIM:613507 ORDO:263297
Ontology:	Human Disease ( DOID:0050579 )

Relationships

is a type of:	autosomal recessive disease glycogen storage disease autosomal recessive disease glycogen storage disease Show first 5 Terms

OTHER glycogen storage disease XV PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GYG1	gyg1b gyg1a	?Glycogen storage disease XV	613507

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None