TaoMedAI/RareMedData huggingface dataset:
Gene: TTN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Short stature (HP:0004322)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Orthopnea (HP:0012764)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Myopathy (HP:0003198)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Myopathy (HP:0003198)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Joint contracture (HP:0034392)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Hip contracture (HP:0003273)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Hypertrophied muscle fibers (HP:0100293)
Associated disease: Myofibrillar myopathy-titinopathy; HMERF; Myofibrillar myopathy with early respiratory failure; Hereditary myopathy with early respiratory failure; MFM-titinopathy; Edström Myopathy; HIBM-ERF; Hereditary inclusion body myopathy with early respiratory failure (ORPHA:178464)
Gene: TTN
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Retrognathia (HP:0000278)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Long face (HP:0000276)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: TTN
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, DILATED, 1G (OMIM:604145)
Gene: TTN
Phenotype: Mitochondrial depletion (HP:0030059)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Absent muscle fiber merosin (HP:0030091)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: High palate (HP:0000218)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: High palate (HP:0000218)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: TTN
Phenotype: Dysphonia (HP:0001618)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: CARDIOMYOPATHY, DILATED, 1G (OMIM:604145)
Gene: TTN
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1G (OMIM:604145)
Gene: TTN
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: TTN
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 (OMIM:613765)
Gene: TTN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1G (OMIM:604145)
Gene: TTN
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Finnish tibial muscular dystrophy; TMD; Distal myopathy, Udd type; Udd myopathy; Tibial muscular dystrophy; Distal titinopathy (ORPHA:609)
Gene: TTN
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE (OMIM:600334)
Gene: TTN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Premature atrial contractions (HP:0006699)
Associated disease: CARDIOMYOPATHY, DILATED, 1G (OMIM:604145)
Gene: TTN
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: TTN
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TTN
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE (OMIM:603689)
Gene: TTN
Phenotype: Pes planus (HP:0001763)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: TTN
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Early young adult onset (HP:0025708)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTN
Phenotype: Ptosis (HP:0000508)
Associated disease: SALIH MYOPATHY (OMIM:611705)
Gene: TTN
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TTN
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)
Gene: TTPA
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Xanthelasma (HP:0001114)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Hypertonia (HP:0001276)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Head titubation (HP:0002599)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Areflexia (HP:0001284)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Areflexia (HP:0001284)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Ataxia (HP:0001251)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Ataxia (HP:0001251)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Dysarthria (HP:0001260)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Short term memory impairment (HP:0033687)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Dystonia (HP:0001332)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Dystonia (HP:0001332)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Tremor (HP:0001337)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Dysmetria (HP:0001310)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Dysmetria (HP:0001310)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Babinski sign (HP:0003487)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Developmental regression (HP:0002376)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Clumsiness (HP:0002312)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Clumsiness (HP:0002312)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Nystagmus (HP:0000639)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)