TaoMedAI/RareMedData huggingface dataset:
Gene: RRM2B
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Hypertonia (HP:0001276)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Lethargy (HP:0001254)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Ataxia (HP:0001251)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Ataxia (HP:0001251)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Dysarthria (HP:0001260)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Dysarthria (HP:0001260)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Deficit in phonologic short-term memory (HP:0002549)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Nocturia (HP:0000017)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Tremor (HP:0001337)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Tremor (HP:0001337)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Scoliosis (HP:0002650)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Abnormal cell morphology (HP:0025461)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Rickets (HP:0002748)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Nausea (HP:0002018)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Constipation (HP:0002019)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Myalgia (HP:0003326)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Myalgia (HP:0003326)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Diarrhea (HP:0002014)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Diarrhea (HP:0002014)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Dysphagia (HP:0002015)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Dysphagia (HP:0002015)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Dysphagia (HP:0002015)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Dysphagia (HP:0002015)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Vomiting (HP:0002013)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Progressive intervertebral space narrowing (HP:0004622)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Migraine (HP:0002076)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Migraine (HP:0002076)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Paresthesia (HP:0003401)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Middle age onset (HP:0003596)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Facial palsy (HP:0010628)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Severe lactic acidosis (HP:0004900)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Palpitations (HP:0001962)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Ketosis (HP:0001946)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Anemia (HP:0001903)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Short stature (HP:0004322)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Short stature (HP:0004322)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Cachexia (HP:0004326)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Cachexia (HP:0004326)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)