TaoMedAI/RareMedData huggingface dataset:
Gene: MT-CO3
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-CO3
Phenotype: Elevated circulating aldolase concentration (HP:0012544)
Associated disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Gene: MT-CO3
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: Visual loss (HP:0000572)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CO3
Phenotype: Color vision defect (HP:0000551)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Leber optic atrophy (HP:0001112)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Cerebellar malformation (HP:0002438)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Lethargy (HP:0001254)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Seizure (HP:0001250)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Ataxia (HP:0001251)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Ataxia (HP:0001251)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Dystonia (HP:0001332)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Cleft palate (HP:0000175)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Tachypnea (HP:0002789)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Renal cyst (HP:0000107)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Vomiting (HP:0002013)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Laryngeal web (HP:0005950)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Migraine (HP:0002076)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Junctional ectopic tachycardia (HP:0011716)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Atrial flutter (HP:0004749)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Postural tremor (HP:0002174)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Postural tremor (HP:0002174)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Reduced contrast sensitivity (HP:0032036)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Drowsiness (HP:0002329)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Retinal nerve fiber edema (HP:0020120)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Fever (HP:0001945)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Blurred vision (HP:0000622)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Central scotoma (HP:0000603)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Ventricular preexcitation (HP:0004309)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Cough (HP:0012735)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Dementia (HP:0000726)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Myopathy (HP:0003198)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Myopathy (HP:0003198)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Myopathy (HP:0003198)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Hypertension (HP:0000822)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Pallor (HP:0000980)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Cyanosis (HP:0000961)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Congenital aphakia (HP:0007707)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Central retinal vessel vascular tortuosity (HP:0007768)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Growth abnormality (HP:0001507)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Hemianopia (HP:0012377)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Tachycardia (HP:0001649)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Megalocornea (HP:0000485)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-CYB
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-CYB
Phenotype: Visual loss (HP:0000572)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-CYB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Foamy myocardial transformation of infancy; Oncocytic cardiomyopathy; Histiocytoid cardiomyopathy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy (ORPHA:137675)
Gene: MT-CYB
Phenotype: Color vision defect (HP:0000551)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MTHFD1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Gene: MTHFD1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Asthenia (HP:0025406)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Vomiting (HP:0002013)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Gene: MTHFD1
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)