TaoMedAI/RareMedData huggingface dataset:
Gene: ALDH18A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Macrotia (HP:0000400)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Strabismus (HP:0000486)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Strabismus (HP:0000486)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Pes planus (HP:0001763)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Protruding ear (HP:0000411)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Cataract (HP:0000518)
Associated disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Gene: ALDH18A1
Phenotype: Cataract (HP:0000518)
Associated disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Gene: ALDH18A1
Phenotype: Cataract (HP:0000518)
Associated disease: ALDH18A1-related De Barsy syndrome; Neurocutaneous syndrome, Bicknell type; Delta-1-pyrroline 5-carboxylate synthetase deficiency; P5CS deficiency (ORPHA:35664)
Gene: ALDH18A1
Phenotype: Cataract (HP:0000518)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: AD-SPG9B; Autosomal dominant spastic paraplegia type 9B (ORPHA:447757)
Gene: ALDH18A1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: ALDH18A1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Gene: ALDH18A1
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: ALDH18A1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; AD-SPG9A; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; Autosomal dominant spastic paraplegia type 9A (ORPHA:447753)
Gene: ALDH18A1
Phenotype: Myopia (HP:0000545)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Gene: PCYT2
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Developmental regression (HP:0002376)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PCYT2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Gene: PYGL
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Motor delay (HP:0001270)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Hypotonia (HP:0001252)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Proteinuria (HP:0000093)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Gene: PYGL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Gene: PYGL
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Gene: PYGL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Gene: PYGL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Postprandial hyperlactemia (HP:0011997)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Intermittent lactic acidemia (HP:0004913)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Gene: PYGL
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Ketosis (HP:0001946)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Short stature (HP:0004322)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Gene: PYGL
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Irritability (HP:0000737)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Gene: PYGL
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Osteopenia (HP:0000938)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Reduced hepatic glycogen phosphorylase activity (HP:6000979)
Associated disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Gene: PYGL
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Gene: PYGL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Growth delay (HP:0001510)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Gene: PYGL
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Gene: PYGL
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGL
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type VI; GSD type VI; Glycogenosis type 6; Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD type 6; Hepatic phosphorylase deficiency; Hepatic glycogen phosphorylase deficiency; Liver glycogen phosphorylase deficiency; Hers disease; GSD due to liver glycogen phosphorylase deficiency (ORPHA:369)
Gene: PYGM
Phenotype: Failure to elevate lactate upon ischemic exercise test (HP:6000526)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)
Gene: PYGM
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Gene: PYGM
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: Glycogen storage disease type 5; GSD type V; Glycogenosis type V; Glycogen storage disease due to muscle glycogen phosphorylase deficiency; McArdle disease; Glycogenosis due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; Glycogen storage disease type V; GSD type 5; Myophosphorylase deficiency; Glycogenosis type 5 (ORPHA:368)