ZFIN Human Disease: glycogen storage disease IXc

OBO ID: DOID:0111043

Term Name:	glycogen storage disease IXc		Search Ontology:
Synonyms:	glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc GSD type 9C GSD type IXc GSD9C
Definition:	A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. (2)
References:	ICD10CM:E74.0 MESH:C567809 OMIM:613027
Ontology:	Human Disease ( DOID:0111043 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PHKG2	phkg2	Glycogen storage disease IXc	613027

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None