TaoMedAI/RareMedData huggingface dataset:
Gene: RRM1
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Cachexia (HP:0004326)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Young adult onset (HP:0011462)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Myopathy (HP:0003198)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RRM1
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Gene: RS1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Hyperautofluorescent retinal lesion (HP:0025158)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Peripheral cystoid retinal degeneration (HP:0007667)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Retinoschisis (HP:0030502)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Retinoschisis (HP:0030502)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Mizuo phenomenon (HP:0030824)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Mizuo phenomenon (HP:0030824)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Strabismus (HP:0000486)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Abnormal foveal morphology (HP:0000493)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Glaucoma (HP:0000501)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis (ORPHA:792)
Gene: RS1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: RETINOSCHISIS 1, X-LINKED, JUVENILE (OMIM:312700)
Gene: RS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RS1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RTN2
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Motor delay (HP:0001270)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Gait disturbance (HP:0001288)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Bulbar palsy (HP:0001283)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Seizure (HP:0001250)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Intellectual disability (HP:0001249)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Urinary urgency (HP:0000012)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Spinal cord lesion (HP:0100561)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Spastic gait (HP:0002064)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Babinski sign (HP:0003487)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Clonus (HP:0002169)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Frequent falls (HP:0002359)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Action tremor (HP:0002345)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Childhood onset (HP:0011463)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Knee clonus (HP:0011449)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Abnormal lower-limb motor evoked potentials (HP:0012898)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Pes planus (HP:0001763)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Hammertoe (HP:0001765)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Pes cavus (HP:0001761)
Associated disease:  (OMIM:620854)
Gene: RTN2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Gene: RTN2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: RTN2
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease:  (OMIM:620854)
Gene: RYR1
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Minicore myopathy (HP:0003789)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Minicore myopathy (HP:0003789)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Minicore myopathy (HP:0003789)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Type 1 and type 2 muscle fiber minicore regions (HP:0003787)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Long fingers (HP:0100807)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Motor delay (HP:0001270)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Motor delay (HP:0001270)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Motor delay (HP:0001270)
Associated disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Gene: RYR1
Phenotype: Motor delay (HP:0001270)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Motor delay (HP:0001270)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Motor delay (HP:0001270)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Motor delay (HP:0001270)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Confusion (HP:0001289)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: RYR1
Phenotype: Areflexia (HP:0001284)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Areflexia (HP:0001284)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Areflexia (HP:0001284)
Associated disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Gene: RYR1
Phenotype: Lethargy (HP:0001254)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Lethargy (HP:0001254)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Seizure (HP:0001250)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Central core disease (ORPHA:597)
Gene: RYR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Gene: RYR1
Phenotype: Ataxia (HP:0001251)
Associated disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Gene: RYR1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Gene: RYR1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Gene: RYR1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: RYR1
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Gene: RYR1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)