TaoMedAI/RareMedData huggingface dataset:
Gene: SEC63
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Dyspnea (HP:0002094)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Back pain (HP:0003418)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617004)
Gene: SEC63
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Adult onset (HP:0003581)
Associated disease: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617004)
Gene: SEC63
Phenotype: Pedal edema (HP:0010741)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Abdominal distention (HP:0003270)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Jaundice (HP:0000952)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: SEC63
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: POLG2
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Lethargy (HP:0001254)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Seizure (HP:0001250)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Hypotonia (HP:0001252)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Cholestasis (HP:0001396)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Nocturia (HP:0000017)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Tremor (HP:0001337)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Amenorrhea (HP:0000141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Open angle glaucoma (HP:0012108)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Constipation (HP:0002019)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Constipation (HP:0002019)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Myalgia (HP:0003326)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Myalgia (HP:0003326)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Migraine (HP:0002076)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Adult onset (HP:0003581)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Facial palsy (HP:0010628)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Progressive (HP:0003676)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Headache (HP:0002315)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Palpitations (HP:0001962)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Ketosis (HP:0001946)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Anxiety (HP:0000739)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Anxiety (HP:0000739)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Depression (HP:0000716)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Fulminant hepatic failure (HP:0004448)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Myopathy (HP:0003198)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Goiter (HP:0000853)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Ventricular bigeminy (HP:0034306)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Jaundice (HP:0000952)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Edema (HP:0000969)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Fatigue (HP:0012378)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Depletion of mitochondrial DNA in liver (HP:0006581)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)