glycogen storage disease IXb (DOID:0111041)
Alliance: disease page
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; GSD9B; GSD due to liver and muscle phosphorylase kinase deficiency; GSD IXb; GSD type 9B; GSD type IXb
Alt IDs: OMIM:261750, ICD10CM:E74.0, MESH:C563008, ORDO:79240
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.