TaoMedAI/RareMedData huggingface dataset:
Gene: POLG
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Adult onset (HP:0003581)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Adult onset (HP:0003581)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Facial palsy (HP:0010628)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Facial palsy (HP:0010628)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Facial palsy (HP:0010628)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Facial palsy (HP:0010628)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Paraparesis (HP:0002385)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Scapular winging (HP:0003691)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Scapular winging (HP:0003691)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Frequent falls (HP:0002359)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Hand tremor (HP:0002378)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Developmental regression (HP:0002376)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Action tremor (HP:0002345)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Progressive (HP:0003676)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Memory impairment (HP:0002354)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Resting tremor (HP:0002322)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Headache (HP:0002315)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Optic neuritis (HP:0100653)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Abdominal cramps (HP:0032155)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Hypointensity of cerebral white matter on MRI (HP:0007103)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Nystagmus (HP:0000639)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Nystagmus (HP:0000639)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Palpitations (HP:0001962)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Diplopia (HP:0000651)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Diplopia (HP:0000651)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Diplopia (HP:0000651)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Blindness (HP:0000618)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Ketosis (HP:0001946)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Anemia (HP:0001903)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Abnormal thalamic MRI signal intensity (HP:0012696)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Focal T2 hyperintense thalamic lesion (HP:0012692)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Cachexia (HP:0004326)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Cachexia (HP:0004326)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Cachexia (HP:0004326)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Cerebral cortical neurodegeneration (HP:0006964)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Poor appetite (HP:0004396)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Malnutrition (HP:0004395)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Malnutrition (HP:0004395)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Anxiety (HP:0000739)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Anxiety (HP:0000739)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Depression (HP:0000716)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Depression (HP:0000716)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Depression (HP:0000716)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Depression (HP:0000716)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Depression (HP:0000716)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Emotional lability (HP:0000712)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Emotional lability (HP:0000712)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Dementia (HP:0000726)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Dementia (HP:0000726)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Dementia (HP:0000726)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Dementia (HP:0000726)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Young adult onset (HP:0011462)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)