TaoMedAI/RareMedData huggingface dataset:
Gene: POLG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Tremor (HP:0001337)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Tremor (HP:0001337)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Myoclonus (HP:0001336)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Myoclonus (HP:0001336)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Myoclonus (HP:0001336)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Myoclonus (HP:0001336)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Myoclonus (HP:0001336)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Dysmetria (HP:0001310)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Dysmetria (HP:0001310)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Dysmetria (HP:0001310)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Scoliosis (HP:0002650)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Movement abnormality of the tongue (HP:0000182)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Abnormal cell morphology (HP:0025461)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Early satiety (HP:0033842)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Hypoventilation (HP:0002791)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Stooped posture (HP:0025403)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Malabsorption (HP:0002024)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Malabsorption (HP:0002024)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Nausea (HP:0002018)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Constipation (HP:0002019)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Constipation (HP:0002019)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Constipation (HP:0002019)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Abdominal pain (HP:0002027)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Abdominal pain (HP:0002027)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Myalgia (HP:0003326)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Diarrhea (HP:0002014)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Diarrhea (HP:0002014)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Dysphagia (HP:0002015)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Dysphagia (HP:0002015)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Dysphagia (HP:0002015)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Dysphagia (HP:0002015)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Dysphagia (HP:0002015)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Vomiting (HP:0002013)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Intention tremor (HP:0002080)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Rigidity (HP:0002063)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Rigidity (HP:0002063)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Migraine (HP:0002076)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Migraine (HP:0002076)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Migraine (HP:0002076)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Migraine (HP:0002076)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Limb ataxia (HP:0002070)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Steppage gait (HP:0003376)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Paralysis (HP:0003470)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Babinski sign (HP:0003487)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Babinski sign (HP:0003487)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Sensory ataxic neuropathy (HP:0003434)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Sensory ataxic neuropathy (HP:0003434)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Sensory ataxic neuropathy (HP:0003434)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Sensory ataxic neuropathy (HP:0003434)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Gliosis (HP:0002171)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Paresthesia (HP:0003401)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Paresthesia (HP:0003401)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Middle age onset (HP:0003596)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Middle age onset (HP:0003596)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Tetraparesis (HP:0002273)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)