TaoMedAI/RareMedData huggingface dataset:
Gene: MT-CO1
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-CO1
Phenotype: Exercise-induced myoglobinuria (HP:0008305)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
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-CO1
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-CO1
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-CO1
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)
Gene: MT-CO1
Phenotype: Memory impairment (HP:0002354)
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-CO1
Phenotype: Recurrent myoglobinuria (HP:0003652)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Recurrent paroxysmal headache (HP:0002331)
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-CO1
Phenotype: Type I diabetes mellitus (HP:0100651)
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-CO1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Peripheral neuropathy (HP:0009830)
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-CO1
Phenotype: Myositis (HP:0100614)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Retinal nerve fiber edema (HP:0020120)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
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-CO1
Phenotype: Fluctuations in consciousness (HP:0007159)
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-CO1
Phenotype: Erythema (HP:0010783)
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-CO1
Phenotype: Sensorimotor neuropathy (HP:0007141)
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-CO1
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Optic atrophy (HP:0000648)
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-CO1
Phenotype: Fever (HP:0001945)
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-CO1
Phenotype: Fever (HP:0001945)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Blurred vision (HP:0000622)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Central scotoma (HP:0000603)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Anemia (HP:0001903)
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-CO1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Short stature (HP:0004322)
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-CO1
Phenotype: Ventricular preexcitation (HP:0004309)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
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-CO1
Phenotype: Reduced consciousness (HP:0004372)
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-CO1
Phenotype: Personality changes (HP:0000751)
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-CO1
Phenotype: Recurrent pancreatitis (HP:0100027)
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-CO1
Phenotype: Anxiety (HP:0000739)
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-CO1
Phenotype: Short attention span (HP:0000736)
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-CO1
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
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-CO1
Phenotype: Depression (HP:0000716)
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-CO1
Phenotype: Dementia (HP:0000726)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Dementia (HP:0000726)
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-CO1
Phenotype: Psychosis (HP:0000709)
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-CO1
Phenotype: Widened cerebral subarachnoid space (HP:0012766)
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-CO1
Phenotype: Abnormal central motor function (HP:0011442)
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-CO1
Phenotype: Myopathy (HP:0003198)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Myopathy (HP:0003198)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Myopathy (HP:0003198)
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-CO1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Lactic acidosis (HP:0003128)
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-CO1
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Diabetes mellitus (HP:0000819)
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-CO1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Hypoparathyroidism (HP:0000829)
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-CO1
Phenotype: Hypertension (HP:0000822)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Hypothyroidism (HP:0000821)
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-CO1
Phenotype: Ragged-red muscle fibers (HP:0003200)
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-CO1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Abnormality of jaw muscles (HP:0045037)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Hypertrichosis (HP:0000998)
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-CO1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Failure to thrive (HP:0001508)
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-CO1
Phenotype: Growth abnormality (HP:0001507)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Hemianopia (HP:0012377)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Increased CSF protein concentration (HP:0002922)
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-CO1
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Concentric hypertrophic cardiomyopathy (HP:0005157)
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-CO1
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Dilated cardiomyopathy (HP:0001644)
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-CO1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
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-CO1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Cardiomyopathy (HP:0001638)
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-CO1
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Sensorineural hearing impairment (HP:0000407)
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-CO1
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
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-CO1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Cardiac conduction abnormality (HP:0031546)
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-CO1
Phenotype: Highly elevated creatine kinase (HP:0030234)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Brain atrophy (HP:0012444)
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-CO1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
Phenotype: Aplasia/Hypoplasia of the cerebral white matter (HP:0012429)
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-CO1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Pigmentary retinopathy (HP:0000580)
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-CO1
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO1
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
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-CO1
Phenotype: Elevated circulating aldolase concentration (HP:0012544)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO1
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-CO1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO2
Phenotype: Increased CSF lactate (HP:0002490)
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-CO2
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)