TaoMedAI/RareMedData huggingface dataset:
Gene: POLG
Phenotype: Myopathy (HP:0003198)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Myopathy (HP:0003198)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Myopathy (HP:0003198)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Myopathy (HP:0003198)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Elevated circulating thymidine concentration (HP:0034276)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Elevated circulating deoxyuridine concentration (HP:0034277)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Epilepsia partialis continua (HP:0012847)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Small intestinal dysmotility (HP:0012850)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Goiter (HP:0000853)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Jaundice (HP:0000952)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Edema (HP:0000969)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Abnormality of the extraocular muscles (HP:0008049)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Microcephaly (HP:0000252)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Ascites (HP:0001541)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Vegetative state (HP:0031358)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Slender build (HP:0001533)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Slender build (HP:0001533)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Intestinal perforation (HP:0031368)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Total ophthalmoplegia (HP:0007824)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Fatigue (HP:0012378)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Hemianopia (HP:0012377)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Generalized non-convulsive status epilepticus without coma (HP:0032860)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Dysphonia (HP:0001618)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Abnormal cerebellar cortex morphology (HP:0031422)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Hyperactive bowel sounds (HP:0030143)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Weak voice (HP:0001621)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Cerebral infarct (HP:0025722)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Late young adult onset (HP:0025710)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Pes cavus (HP:0001761)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Pes cavus (HP:0001761)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Pes cavus (HP:0001761)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Early young adult onset (HP:0025708)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Cataract (HP:0000518)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Cataract (HP:0000518)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Cataract (HP:0000518)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Weight loss (HP:0001824)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Weight loss (HP:0001824)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Weight loss (HP:0001824)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Weight loss (HP:0001824)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Ptosis (HP:0000508)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Ptosis (HP:0000508)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Ptosis (HP:0000508)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Ptosis (HP:0000508)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Visual impairment (HP:0000505)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Visual impairment (HP:0000505)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Visual impairment (HP:0000505)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Visual loss (HP:0000572)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Allodynia (HP:0012533)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Esotropia (HP:0000565)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)