TaoMedAI/RareMedData huggingface dataset:
Gene: MT-TS1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Mixed demyelinating and axonal polyneuropathy (HP:0007327)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TS1
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TS1
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TS1
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TS1
Phenotype: Stuttering (HP:0025268)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Motor delay (HP:0001270)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TS1
Phenotype: Seizure (HP:0001250)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TS1
Phenotype: Seizure (HP:0001250)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Ataxia (HP:0001251)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TS1
Phenotype: Ataxia (HP:0001251)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TS1
Phenotype: Ataxia (HP:0001251)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Spasticity (HP:0001257)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TS1
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TS1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TS1
Phenotype: Muscle abnormality related to mitochondrial dysfunction (HP:0003800)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TS1
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Proteinuria (HP:0000093)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TS1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Myoclonus (HP:0001336)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TS1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TS1
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED (OMIM:580000)
Gene: MT-TS1
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TS1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TS1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Constipation (HP:0002019)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TS1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Vomiting (HP:0002013)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TS1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TS1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TS1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Migraine (HP:0002076)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Migraine (HP:0002076)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TS1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TS1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TS1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TS1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TS1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TS1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TS1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TS1
Phenotype: Aminoglycoside-induced hearing loss (HP:0011975)
Associated disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED (OMIM:580000)
Gene: MT-TS1
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TS1
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Distal peripheral sensory neuropathy (HP:0007067)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Aphasia (HP:0002381)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Vitiligo (HP:0001045)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TS1
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: MT-TS1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TS1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)