ZFIN Human Disease: glycogen storage disease IXd

OBO ID: DOID:0111040

Term Name:	glycogen storage disease IXd		Search Ontology:
Synonyms:	glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe GSD due to muscle phosphorylase kinase deficiency GSD IXd GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D muscle phosphorylase kinase deficiency X-linked muscke glycogenosis
Definition:	A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. (2)
References:	ICD10CM:E74.0 OMIM:300559 ORDO:715
Ontology:	Human Disease ( DOID:0111040 )

Relationships

is a type of:	glycogen storage disease IX X-linked recessive disease glycogen storage disease IX X-linked recessive disease Show first 5 Terms
disjoint_from:	glycogen storage disease IXb glycogen storage disease IXb Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PHKA1	phka1b phka1a	Muscle glycogenosis	300559

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None