TaoMedAI/RareMedData huggingface dataset:
Gene: PHKB
Phenotype: Cirrhosis (HP:0001394)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Recurrent infections (HP:0002719)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Nausea (HP:0002018)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Myalgia (HP:0003326)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Diarrhea (HP:0002014)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Diarrhea (HP:0002014)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Vomiting (HP:0002013)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Muscle spasm (HP:0003394)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Reduced hepatic phosphorylase kinase activity (HP:6000333)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Dysmenorrhea (HP:0100607)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Anemia (HP:0001903)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Increased muscle glycogen content (HP:0009051)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Increased body weight (HP:0004324)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Short stature (HP:0004322)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Short stature (HP:0004322)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Osteoporosis (HP:0000939)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Growth delay (HP:0001510)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Fatigue (HP:0012378)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GLYCOGEN STORAGE DISEASE IXb (OMIM:261750)
Gene: PHKB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GSD type IXb; Glycogen storage disease type 9B; Glycogenosis type IXb; Glycogenosis due to liver and muscle phosphorylase kinase deficiency; GSD due to liver and muscle phosphorylase kinase deficiency; Glycogen storage disease type IXb; GSD type 9B; Glycogenosis type 9B; Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
Gene: PHKG1
Phenotype: Gait disturbance (HP:0001288)
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: Hyporeflexia (HP:0001265)
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: Myalgia (HP:0003326)
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: Progressive muscle weakness (HP:0003323)
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: Muscle spasm (HP:0003394)
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: Gowers sign (HP:0003391)
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: Reduced muscle phosphorylase kinase activity (HP:6000198)
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: Camptocormia (HP:0100595)
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: EMG: myopathic abnormalities (HP:0003458)
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)