TaoMedAI/RareMedData huggingface dataset:
Gene: MT-TH
Phenotype: Visual loss (HP:0000572)
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-TI
Phenotype: Seizure (HP:0001250)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TI
Phenotype: Ataxia (HP:0001251)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TI
Phenotype: Spasticity (HP:0001257)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TI
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TI
Phenotype: Myoclonus (HP:0001336)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TI
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TI
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TI
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TI
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TI
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TI
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TI
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TK
Phenotype: Bulbar signs (HP:0002483)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Hypertonia (HP:0001276)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Seizure (HP:0001250)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TK
Phenotype: Seizure (HP:0001250)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Ataxia (HP:0001251)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TK
Phenotype: Ataxia (HP:0001251)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TK
Phenotype: Ataxia (HP:0001251)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Ataxia (HP:0001251)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Spasticity (HP:0001257)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Spasticity (HP:0001257)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TK
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Abnormal renal tubule morphology (HP:0000091)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Slurred speech (HP:0001350)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Dystonia (HP:0001332)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Myoclonus (HP:0001336)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TK
Phenotype: Floppy infant (HP:0008947)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TK
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Myalgia (HP:0003326)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Dysphagia (HP:0002015)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TK
Phenotype: Dyspnea (HP:0002094)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Dyspnea (HP:0002094)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Migraine (HP:0002076)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Chorea (HP:0002072)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Hypothermia (HP:0002045)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TK
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TK
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TK
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Apnea (HP:0002104)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Low plasma citrulline (HP:0003572)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TK
Phenotype: Chest pain (HP:0100749)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Developmental regression (HP:0002376)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TK
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Dyskinesia (HP:0100660)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Multiple glomerular cysts (HP:0100611)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Nystagmus (HP:0000639)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TK
Phenotype: Fever (HP:0001945)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TK
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TK
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Short stature (HP:0004322)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TK
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Mitochondrial DNA-related cardiomyopathy and hearing loss; mtDNA-related cardiomyopathy and hearing loss; Maternally-inherited cardiomyopathy and deafness; tRNA-LYS-related cardiomyopathy-hearing loss syndrome; mtDNA-related cardiomyopathy and deafness (ORPHA:1349)
Gene: MT-TK
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)