glycogen storage disease IXa1
Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.
MONDO:0020693
glycogen storage disease due to liver phosphorylase kinase deficiency
is_a
MONDO:0700291
glycogen storage disease IX
is_a
GSD9A1
related
PHKA2 glycogen storage disease
exact
PHKA2-related glycogen storage disease type IX
exact
PYKL
related
glycogen storage disease 8
related
glycogen storage disease IXa
broad
glycogen storage disease IXa1
exact
glycogen storage disease VIII
exact
glycogen storage disease caused by mutation in PHKA2
exact
glycogen storage disease type 9A
exact
glycogen storage disease type IXa
exact
glycogen storage disease type VIII
exact
glycogen storage disease, type IXa1, X-linked recessive
exact
glycogen storage disease, type IXa2, X-linked recessive
exact
glycogenosis type 8
related
glycogenosis type 9A
exact
glycogenosis type IXa
exact
hepatic phosphorylase kinase deficiency
related
phosphorylase kinase deficiency of liver
related