TaoMedAI/RareMedData huggingface dataset:
Gene: PHKG1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Glycogen storage disease type 9E; GSD type IXe; Glycogen storage disease type IXd; Glycogen storage disease type IXe; Glycogenosis type 9D; Glycogenosis type IXe; Glycogenosis type 9E; GSD type 9E; Glycogenosis type IXd; Glycogen storage disease due to muscle phosphorylase kinase deficiency; GSD type 9D; Glycogen storage disease type 9D; Glycogenosis due to muscle phosphorylase kinase deficiency; GSD due to muscle phosphorylase kinase deficiency; GSD type IXd (ORPHA:715)
Gene: PHKG1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Glycogen storage disease type 9E; GSD type IXe; Glycogen storage disease type IXd; Glycogen storage disease type IXe; Glycogenosis type 9D; Glycogenosis type IXe; Glycogenosis type 9E; GSD type 9E; Glycogenosis type IXd; Glycogen storage disease due to muscle phosphorylase kinase deficiency; GSD type 9D; Glycogen storage disease type 9D; Glycogenosis due to muscle phosphorylase kinase deficiency; GSD due to muscle phosphorylase kinase deficiency; GSD type IXd (ORPHA:715)
Gene: PHKG1
Phenotype: Increased muscle glycogen content (HP:0009051)
Associated disease: Glycogen storage disease type 9E; GSD type IXe; Glycogen storage disease type IXd; Glycogen storage disease type IXe; Glycogenosis type 9D; Glycogenosis type IXe; Glycogenosis type 9E; GSD type 9E; Glycogenosis type IXd; Glycogen storage disease due to muscle phosphorylase kinase deficiency; GSD type 9D; Glycogen storage disease type 9D; Glycogenosis due to muscle phosphorylase kinase deficiency; GSD due to muscle phosphorylase kinase deficiency; GSD type IXd (ORPHA:715)
Gene: PHKG1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Glycogen storage disease type 9E; GSD type IXe; Glycogen storage disease type IXd; Glycogen storage disease type IXe; Glycogenosis type 9D; Glycogenosis type IXe; Glycogenosis type 9E; GSD type 9E; Glycogenosis type IXd; Glycogen storage disease due to muscle phosphorylase kinase deficiency; GSD type 9D; Glycogen storage disease type 9D; Glycogenosis due to muscle phosphorylase kinase deficiency; GSD due to muscle phosphorylase kinase deficiency; GSD type IXd (ORPHA:715)
Gene: PHKG1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Glycogen storage disease type 9E; GSD type IXe; Glycogen storage disease type IXd; Glycogen storage disease type IXe; Glycogenosis type 9D; Glycogenosis type IXe; Glycogenosis type 9E; GSD type 9E; Glycogenosis type IXd; Glycogen storage disease due to muscle phosphorylase kinase deficiency; GSD type 9D; Glycogen storage disease type 9D; Glycogenosis due to muscle phosphorylase kinase deficiency; GSD due to muscle phosphorylase kinase deficiency; GSD type IXd (ORPHA:715)
Gene: PHKG1
Phenotype: Fatigue (HP:0012378)
Associated disease: Glycogen storage disease type 9E; GSD type IXe; Glycogen storage disease type IXd; Glycogen storage disease type IXe; Glycogenosis type 9D; Glycogenosis type IXe; Glycogenosis type 9E; GSD type 9E; Glycogenosis type IXd; Glycogen storage disease due to muscle phosphorylase kinase deficiency; GSD type 9D; Glycogen storage disease type 9D; Glycogenosis due to muscle phosphorylase kinase deficiency; GSD due to muscle phosphorylase kinase deficiency; GSD type IXd (ORPHA:715)
Gene: PHKG1
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: Glycogen storage disease type 9E; GSD type IXe; Glycogen storage disease type IXd; Glycogen storage disease type IXe; Glycogenosis type 9D; Glycogenosis type IXe; Glycogenosis type 9E; GSD type 9E; Glycogenosis type IXd; Glycogen storage disease due to muscle phosphorylase kinase deficiency; GSD type 9D; Glycogen storage disease type 9D; Glycogenosis due to muscle phosphorylase kinase deficiency; GSD due to muscle phosphorylase kinase deficiency; GSD type IXd (ORPHA:715)
Gene: PHKG2
Phenotype: Hyperketonemia (HP:0410175)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Motor delay (HP:0001270)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Cholestasis (HP:0001396)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Nausea (HP:0002018)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Myalgia (HP:0003326)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Vomiting (HP:0002013)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Reduced hepatic phosphorylase kinase activity (HP:6000333)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Dysmenorrhea (HP:0100607)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Ketosis (HP:0001946)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Ketosis (HP:0001946)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Anemia (HP:0001903)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Increased body weight (HP:0004324)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Short stature (HP:0004322)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Gene: PHKG2
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Glycogenosis due to liver phosphorylase kinase deficiency; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXc; GSD type IXa; Glycogenosis type IXc; XLG; GSD type 9C; Glycogenosis type 9C; Glycogen storage disease due to liver phosphorylase kinase deficiency; Glycogenosis type IXa; Glycogenosis type 9A; GSD type 9A; GSD due to liver phosphorylase kinase deficiency; Glycogen storage disease type IXa (ORPHA:264580)
Gene: PHKG2
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)