TaoMedAI/RareMedData huggingface dataset:
Gene: MT-CO2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
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-CO2
Phenotype: Hypertension (HP:0000822)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
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-CO2
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-CO2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
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-CO2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
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-CO2
Phenotype: Growth abnormality (HP:0001507)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
Phenotype: Hemianopia (HP:0012377)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
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-CO2
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-CO2
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
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-CO2
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-CO2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
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-CO2
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
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-CO2
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
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-CO2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
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-CO2
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-CO2
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-CO2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO2
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-CO2
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-CO2
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-CO3
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-CO3
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CO3
Phenotype: Leber optic atrophy (HP:0001112)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CO3
Phenotype: Abnormality of glycolipid metabolism (HP:0010969)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
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-CO3
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-CO3
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO3
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO3
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO3
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-CO3
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-CO3
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO3
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-CO3
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CO3
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-CO3
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-CO3
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-CO3
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO3
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-CO3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
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-CO3
Phenotype: Ataxia (HP:0001251)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CO3
Phenotype: Ataxia (HP:0001251)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CO3
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-CO3
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-CO3
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-CO3
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO3
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-CO3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO3
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CO3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
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-CO3
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-CO3
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-CO3
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-CO3
Phenotype: Dystonia (HP:0001332)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CO3
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-CO3
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-CO3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
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-CO3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
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-CO3
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO3
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CO3
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-CO3
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-CO3
Phenotype: Dark urine (HP:0040319)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
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-CO3
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-CO3
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-CO3
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-CO3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO3
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-CO3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
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-CO3
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-CO3
Phenotype: Migraine (HP:0002076)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CO3
Phenotype: Oliguria (HP:0100520)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
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-CO3
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
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-CO3
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-CO3
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-CO3
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
Phenotype: Postural tremor (HP:0002174)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)