TaoMedAI/RareMedData huggingface dataset:
Gene: PHEX
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Genu valgum (HP:0002857)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Genu valgum (HP:0002857)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Growth delay (HP:0001510)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Fatigue (HP:0012378)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Abnormal lower-limb metaphysis morphology (HP:0006490)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Tinnitus (HP:0000360)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Tibial bowing (HP:0002982)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Femoral bowing (HP:0002980)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Gene: PHEX
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Genu varum (HP:0002970)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Multiple rib fractures (HP:0006640)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Sacroiliac joint synovitis (HP:0012449)
Associated disease: X-linked hypophosphatemic rickets; X-linked hypophosphatemia; XLH (ORPHA:89936)
Gene: PHEX
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHEX
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PHEX
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PHKA1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
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: PHKA1
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: PHKA1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
Phenotype: Exercise-induced muscle stiffness (HP:0008967)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
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: PHKA1
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: PHKA1
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: PHKA1
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: PHKA1
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: PHKA1
Phenotype: Reduced muscle phosphorylase kinase activity (HP:6000198)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
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: PHKA1
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)
Gene: PHKA1
Phenotype: Middle age onset (HP:0003596)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
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: PHKA1
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: PHKA1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
Phenotype: Exercise-induced myoglobinuria (HP:0008305)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
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: PHKA1
Phenotype: Increased muscle glycogen content (HP:0009051)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
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: PHKA1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
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: PHKA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA1
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: PHKA1
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: PHKA1
Phenotype: Glycogen accumulation in muscle fiber lysosomes (HP:0030231)
Associated disease: GLYCOGEN STORAGE DISEASE, TYPE IXd (OMIM:300559)
Gene: PHKA2
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: PHKA2
Phenotype: Motor delay (HP:0001270)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
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: PHKA2
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: PHKA2
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: PHKA2
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: PHKA2
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: PHKA2
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: PHKA2
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: PHKA2
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: PHKA2
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: PHKA2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Gene: PHKA2
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: PHKA2
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: PHKA2
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)