glycogen storage disease IXb

Term ID

DOID:0111041

Synonyms

• glycogen storage disease type 9B
• glycogen storage disease type IXb
• glycogenosis due to liver and muscle phosphorylase kinase deficiency
• glycogenosis type 9B
• glycogenosis type IXb
• GSD due to liver and muscle phosphorylase kinase deficiency
• GSD IXb
• GSD type 9B
• GSD type IXb
• GSD9B

Definition

A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. (2)

References

• ICD10CM:E74.0
• MESH:C563008
• MIM:261750
• ORDO:79240

Ontology

Human Disease   ( DOID:0111041 )