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Metadata
ID DOID:0111043
Name glycogen storage disease IXc
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.
https://www.ncbi.nlm.nih.gov/pubmed/6962066, https://www.ncbi.nlm.nih.gov/pubmed/9384616
Xrefs

ICD10CM:E74.0

MESH:C567809

MIM:613027

Synonyms

glycogen storage disease type 9C [EXACT]

glycogen storage disease type IXc [EXACT]

glycogenosis type 9C [EXACT]

glycogenosis type IXc [EXACT]

GSD type 9C [EXACT]

GSD type IXc [EXACT]

GSD9C [EXACT]

Parent Relationships

is_a glycogen storage disease IX

is_a autosomal recessive disease

Subclass Logical Relationships

has symptom some left upper quadrant abdominal rigidity

has material basis in some autosomal recessive inheritance

has symptom some hepatomegaly

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