TaoMedAI/RareMedData huggingface dataset:
Gene: RYR1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Small scrotum (HP:0000046)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Sternocleidomastoid amyotrophy (HP:0012036)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Micropenis (HP:0000054)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Hypotension (HP:0002615)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Hypotension (HP:0002615)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: Frog-leg posture (HP:0031139)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Frog-leg posture (HP:0031139)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Recurrent patellar dislocation (HP:0005001)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Necrotizing myopathy (HP:0008978)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Acute rhabdomyolysis (HP:0008942)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Flushing (HP:0031284)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Tachypnea (HP:0002789)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Tachypnea (HP:0002789)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Abnormality of the foot musculature (HP:0001436)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Internally nucleated skeletal muscle fibers (HP:0031237)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Internally nucleated skeletal muscle fibers (HP:0031237)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Delirium (HP:0031258)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Nausea (HP:0002018)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Vomiting (HP:0002013)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Mixed respiratory and metabolic acidosis (HP:0005967)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Abnormal skeletal muscle morphology (HP:0011805)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Rigidity (HP:0002063)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: Gowers sign (HP:0003391)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Oliguria (HP:0100520)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Gene: RYR1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Intermittent painful muscle spasms (HP:0011964)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: RYR1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Facial palsy (HP:0010628)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Scapular winging (HP:0003691)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Scapular winging (HP:0003691)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Vertigo (HP:0002321)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Headache (HP:0002315)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Gene: RYR1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)