TaoMedAI/RareMedData huggingface dataset:
Gene: POLE
Phenotype: Broad forehead (HP:0000337)
Associated disease: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
Gene: POLE
Phenotype: Micrognathia (HP:0000347)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Micromelia (HP:0002983)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: POLE
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: POLE
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Narrow nose (HP:0000460)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Broad neck (HP:0000475)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Short neck (HP:0000470)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY (OMIM:618336)
Gene: POLE
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: POLE
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLE
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Weight loss (HP:0001824)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Visual impairment (HP:0000505)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: POLE
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLE
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLG
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Astrocytosis (HP:0002446)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Reduced tissue thymidine phosphorylase activity (HP:6000570)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Atrophic muscularis propria (HP:0025149)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Muscle fiber necrosis (HP:0003713)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Hypertonia (HP:0001276)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Hypertonia (HP:0001276)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Areflexia (HP:0001284)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Areflexia (HP:0001284)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Areflexia (HP:0001284)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Areflexia (HP:0001284)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Areflexia (HP:0001284)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Areflexia (HP:0001284)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Lethargy (HP:0001254)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Seizure (HP:0001250)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Seizure (HP:0001250)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Seizure (HP:0001250)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Hypotonia (HP:0001252)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Ataxia (HP:0001251)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Ataxia (HP:0001251)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Ataxia (HP:0001251)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Gastroparesis (HP:0002578)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Gastroparesis (HP:0002578)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Gastroparesis (HP:0002578)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Gastroparesis (HP:0002578)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Dysarthria (HP:0001260)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Dysarthria (HP:0001260)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Dysarthria (HP:0001260)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Dysarthria (HP:0001260)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Dysarthria (HP:0001260)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Dysarthria (HP:0001260)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Spasticity (HP:0001257)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Coma (HP:0001259)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease; Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy (ORPHA:726)
Gene: POLG
Phenotype: Atrophy/Degeneration involving the spinal cord (HP:0007344)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Atrophy/Degeneration involving the spinal cord (HP:0007344)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: POLG
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Gene: POLG
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Abnormality of central motor conduction (HP:0012079)
Associated disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Gene: POLG
Phenotype: Aciduria (HP:0012072)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Anasarca (HP:0012050)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Gene: POLG
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: POLG
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: SANDO; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (ORPHA:70595)
Gene: POLG
Phenotype: Slurred speech (HP:0001350)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Nocturia (HP:0000017)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Gene: POLG
Phenotype: Dystonia (HP:0001332)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Dystonia (HP:0001332)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: EEG with occipital epileptiform discharges (HP:0033720)
Associated disease: MSCAE; Spinocerebellar ataxia with epilepsy; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Gene: POLG
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Gene: POLG
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Gene: POLG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Gene: POLG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)