TaoMedAI/RareMedData huggingface dataset:
Gene: RYR1
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Tibialis anterior muscle atrophy (HP:0011399)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Fever (HP:0001945)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Exercise-induced rhabdomyolysis (HP:0009045)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Difficulty running (HP:0009046)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Difficulty running (HP:0009046)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Difficulty running (HP:0009046)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Difficulty running (HP:0009046)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Short stature (HP:0004322)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Fetal onset (HP:0011461)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Myopathy (HP:0003198)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Myopathy (HP:0003198)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Macrocephaly at birth (HP:0004488)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Thin ribs (HP:0000883)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Abnormal pulse pressure (HP:0030850)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Hip contracture (HP:0003273)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Crackles (HP:0030830)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: Dry skin (HP:0000958)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Anhidrosis (HP:0000970)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Edema (HP:0000969)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Hypertrophied muscle fibers (HP:0100293)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Rectus femoris muscle atrophy (HP:0040191)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Rectus femoris muscle atrophy (HP:0040191)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Rectus femoris muscle atrophy (HP:0040191)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: ST segment depression (HP:0012250)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Narrow face (HP:0000275)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Long face (HP:0000276)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Cardiomyocyte mitochondrial proliferation (HP:0031320)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: High palate (HP:0000218)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: High palate (HP:0000218)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: High palate (HP:0000218)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: High palate (HP:0000218)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Hyporeflexia of upper limbs (HP:0012391)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Fatigue (HP:0012378)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Miscarriage (HP:0005268)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Weak cry (HP:0001612)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Low-set ears (HP:0000369)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Tachycardia (HP:0001649)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Breech presentation (HP:0001623)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: High-output congestive heart failure (HP:0001722)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Abnormality of masseter muscle (HP:3000005)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Central core regions in muscle fibers (HP:0030230)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Central core regions in muscle fibers (HP:0030230)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Short neck (HP:0000470)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Webbed neck (HP:0000465)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Pes planus (HP:0001763)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Pes planus (HP:0001763)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Hypercapnia (HP:0012416)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Hypocapnia (HP:0012417)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Ptosis (HP:0000508)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Ptosis (HP:0000508)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Ptosis (HP:0000508)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Talipes (HP:0001883)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR2
Phenotype: Syncope (HP:0001279)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Syncope (HP:0001279)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: RYR2
Phenotype: Seizure (HP:0001250)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RYR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Atrial standstill (HP:0025478)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Effort-induced polymorphic ventricular tachycardia (HP:0004758)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: RYR2
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: RYR2
Phenotype: Vertigo (HP:0002321)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: RYR2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Ventricular couplet (HP:0034039)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Bidirectional ventricular tachycardia (HP:0034040)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Palpitations (HP:0001962)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: RYR2
Phenotype: Childhood onset (HP:0011463)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)