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530000
KSS
KEARNS-SAYRE SYNDROME
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Bacterial Infections and Mycoses
Infection
Eye Infections
Corneal Ulcer
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Developmental
Dwarfism
Dwarfism, Pituitary
Marfan Syndrome
Bone Diseases, Endocrine
Dwarfism, Pituitary
Bone Diseases, Metabolic
Pseudohypoparathyroidism
Muscular Diseases
Mitochondrial Myopathies
Mitochondrial Encephalomyopathies
MELAS Syndrome
MERRF Syndrome
Ophthalmoplegia, Chronic Progressive External
Kearns-Sayre Syndrome
Digestive System Diseases
Biliary Tract Diseases
Bile Duct Diseases
Cholestasis
Cholestasis, Intrahepatic
Liver Cirrhosis, Biliary
Gastrointestinal Diseases
Esophageal Diseases
Deglutition Disorders
Esophageal Motility Disorders
Esophageal Achalasia
Liver Diseases
Cholestasis, Intrahepatic
Liver Cirrhosis, Biliary
Liver Cirrhosis
Liver Cirrhosis, Biliary
Pancreatic Diseases
Stomatognathic Diseases
Mouth Diseases
Facial Paralysis
Respiratory Tract Diseases
Respiration Disorders
Apnea
Sleep Apnea Syndromes
Sleep Apnea, Central
Respiratory Insufficiency
Otorhinolaryngologic Diseases
Ear Diseases
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Sensorineural
Pharyngeal Diseases
Deglutition Disorders
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Basal Ganglia Diseases
Dystonia Musculorum Deformans
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Leigh Disease
MELAS Syndrome
MERRF Syndrome
Peroxisomal Disorders
Refsum Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Mitochondrial Encephalomyopathies
Cerebellar Diseases
Cerebellar Ataxia
Cerebrovascular Disorders
Brain Ischemia
Brain Infarction
Cerebral Infarction
Cerebral Small Vessel Diseases
MELAS Syndrome
Stroke
Brain Infarction
Cerebral Infarction
Epilepsy
Epilepsies, Myoclonic
Myoclonic Epilepsies, Progressive
MERRF Syndrome
Seizures
Hypothalamic Diseases
Laurence-Moon Syndrome
Pituitary Diseases
Hypopituitarism
Dwarfism, Pituitary
Movement Disorders
Dystonic Disorders
Dystonia Musculorum Deformans
Cranial Nerve Diseases
Ocular Motility Disorders
Ophthalmoplegia
Ophthalmoplegia, Chronic Progressive External
Ophthalmoplegia, Chronic Progressive External
Kearns-Sayre Syndrome
Strabismus
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
Demyelinating Diseases
Nervous System Malformations
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Dystonia Musculorum Deformans
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Optic Atrophies, Hereditary
Neurologic Manifestations
Dyskinesias
Ataxia
Cerebellar Ataxia
Dystonia
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
Consciousness Disorders
Unconsciousness
Syncope
Intellectual Disability
Mental Retardation, X-Linked
Mucopolysaccharidosis II
Pyruvate Dehydrogenase Complex Deficiency Disease
Paralysis
Facial Paralysis
Ophthalmoplegia
Ophthalmoplegia, Chronic Progressive External
Paraplegia
Reflex, Abnormal
Seizures
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Sensorineural
Neuromuscular Diseases
Muscular Diseases
Mitochondrial Myopathies
Mitochondrial Encephalomyopathies
MELAS Syndrome
MERRF Syndrome
Ophthalmoplegia, Chronic Progressive External
Kearns-Sayre Syndrome
Peripheral Nervous System Diseases
Polyneuropathies
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Sleep Disorders
Dyssomnias
Sleep Disorders, Intrinsic
Sleep Apnea Syndromes
Sleep Apnea, Central
Eye Diseases
Corneal Diseases
Keratitis
Corneal Ulcer
Eye Diseases, Hereditary
Choroideremia
Optic Atrophies, Hereditary
Retinitis Pigmentosa
Eye Infections
Corneal Ulcer
Eyelid Diseases
Blepharoptosis
Ocular Motility Disorders
Ophthalmoplegia
Ophthalmoplegia, Chronic Progressive External
Ophthalmoplegia, Chronic Progressive External
Kearns-Sayre Syndrome
Strabismus
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
Retinal Diseases
Retinal Degeneration
Retinal Dystrophies
Retinitis Pigmentosa
Kearns-Sayre Syndrome
Uveal Diseases
Choroid Diseases
Choroideremia
Male Urogenital Diseases
Urologic Diseases
Kidney Diseases
Fanconi Syndrome
Renal Tubular Transport, Inborn Errors
Bartter Syndrome
Fanconi Syndrome
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urologic Diseases
Kidney Diseases
Fanconi Syndrome
Renal Tubular Transport, Inborn Errors
Bartter Syndrome
Fanconi Syndrome
Pregnancy Complications
Pregnancy Complications, Cardiovascular
Cardiovascular Diseases
Cardiovascular Abnormalities
Heart Defects, Congenital
Marfan Syndrome
Heart Diseases
Arrhythmias, Cardiac
Heart Block
Bundle-Branch Block
Long QT Syndrome
Tachycardia
Tachycardia, Ventricular
Torsades de Pointes
Cardiomegaly
Cardiomyopathy, Dilated
Cardiomyopathies
Cardiomyopathy, Dilated
Kearns-Sayre Syndrome
Heart Arrest
Heart Defects, Congenital
Marfan Syndrome
Heart Failure
Heart Valve Diseases
Heart Valve Prolapse
Mitral Valve Prolapse
Pregnancy Complications, Cardiovascular
Vascular Diseases
Cerebrovascular Disorders
Brain Ischemia
Brain Infarction
Cerebral Infarction
Cerebral Small Vessel Diseases
MELAS Syndrome
Stroke
Brain Infarction
Cerebral Infarction
Hemic and Lymphatic Diseases
Hematologic Diseases
Anemia
Anemia, Sideroblastic
Bone Marrow Diseases
Myelodysplastic Syndromes
Anemia, Sideroblastic
Pancytopenia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Laurence-Moon Syndrome
Marfan Syndrome
Cardiovascular Abnormalities
Heart Defects, Congenital
Long QT Syndrome
Marfan Syndrome
Chromosome Disorders
Nervous System Malformations
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Genetic Diseases, Inborn
Chromosome Disorders
Eye Diseases, Hereditary
Choroideremia
Optic Atrophies, Hereditary
Retinitis Pigmentosa
Genetic Diseases, X-Linked
Choroideremia
Mental Retardation, X-Linked
Mucopolysaccharidosis II
Pyruvate Dehydrogenase Complex Deficiency Disease
Heredodegenerative Disorders, Nervous System
Dystonia Musculorum Deformans
Hereditary Sensory and Motor Neuropathy
Refsum Disease
Mental Retardation, X-Linked
Mucopolysaccharidosis II
Pyruvate Dehydrogenase Complex Deficiency Disease
Optic Atrophies, Hereditary
Marfan Syndrome
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Leigh Disease
MELAS Syndrome
MERRF Syndrome
Peroxisomal Disorders
Refsum Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Carbohydrate Metabolism, Inborn Errors
Mucopolysaccharidoses
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Pyruvate Metabolism, Inborn Errors
Leigh Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Cytochrome-c Oxidase Deficiency
Lipid Metabolism, Inborn Errors
Hypolipoproteinemias
Hypobetalipoproteinemias
Abetalipoproteinemia
Lysosomal Storage Diseases
Mucopolysaccharidoses
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Metal Metabolism, Inborn Errors
Pseudohypoparathyroidism
Peroxisomal Disorders
Refsum Disease
Renal Tubular Transport, Inborn Errors
Fanconi Syndrome
Skin and Connective Tissue Diseases
Connective Tissue Diseases
Marfan Syndrome
Mucinoses
Mucopolysaccharidoses
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Skin Diseases
Sweat Gland Diseases
Hypohidrosis
Nutritional and Metabolic Diseases
Metabolic Diseases
Acid-Base Imbalance
Acidosis
Acidosis, Lactic
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Leigh Disease
MELAS Syndrome
MERRF Syndrome
Peroxisomal Disorders
Refsum Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Mitochondrial Encephalomyopathies
Calcium Metabolism Disorders
Calcinosis
Pseudohypoparathyroidism
Glucose Metabolism Disorders
Diabetes Mellitus
Diabetes Mellitus, Type 1
Hyperglycemia
Hyperinsulinism
Insulin Resistance
Iron Metabolism Disorders
Iron Overload
Hemosiderosis
Lipid Metabolism Disorders
Dyslipidemias
Hypolipoproteinemias
Hypobetalipoproteinemias
Abetalipoproteinemia
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Leigh Disease
MELAS Syndrome
MERRF Syndrome
Peroxisomal Disorders
Refsum Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Carbohydrate Metabolism, Inborn Errors
Mucopolysaccharidoses
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Pyruvate Metabolism, Inborn Errors
Leigh Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Lipid Metabolism, Inborn Errors
Hypolipoproteinemias
Hypobetalipoproteinemias
Abetalipoproteinemia
Lysosomal Storage Diseases
Mucopolysaccharidoses
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Metal Metabolism, Inborn Errors
Pseudohypoparathyroidism
Peroxisomal Disorders
Refsum Disease
Renal Tubular Transport, Inborn Errors
Fanconi Syndrome
Mitochondrial Diseases
Cytochrome-c Oxidase Deficiency
Kearns-Sayre Syndrome
Leigh Disease
Mitochondrial Myopathies
Mitochondrial Encephalomyopathies
MELAS Syndrome
MERRF Syndrome
Ophthalmoplegia, Chronic Progressive External
Kearns-Sayre Syndrome
Pyruvate Dehydrogenase Complex Deficiency Disease
Water-Electrolyte Imbalance
Hypokalemia
Nutrition Disorders
Malnutrition
Deficiency Diseases
Avitaminosis
Vitamin B Deficiency
Folic Acid Deficiency
Endocrine System Diseases
Adrenal Gland Diseases
Adrenal Insufficiency
Addison Disease
Adrenocortical Hyperfunction
Hyperaldosteronism
Bartter Syndrome
Diabetes Mellitus
Diabetes Complications
Diabetic Coma
Diabetes Mellitus, Type 1
Dwarfism
Dwarfism, Pituitary
Gonadal Disorders
Hypogonadism
Parathyroid Diseases
Hypoparathyroidism
Pituitary Diseases
Hypopituitarism
Dwarfism, Pituitary
Polyendocrinopathies, Autoimmune
Thyroid Diseases
Hypothyroidism
Immune System Diseases
Autoimmune Diseases
Addison Disease
Diabetes Mellitus, Type 1
Polyendocrinopathies, Autoimmune
Animal Diseases
Disease Models, Animal
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Atrophy
Hypertrophy
Cardiomegaly
Pathologic Processes
Arrhythmias, Cardiac
Heart Block
Bundle-Branch Block
Long QT Syndrome
Tachycardia
Tachycardia, Ventricular
Torsades de Pointes
Chromosome Aberrations
Aneuploidy
Monosomy
Chromosome Deletion
Disease
Syndrome
Disease Attributes
Chronic Disease
Disease Progression
Disease Susceptibility
Genetic Predisposition to Disease
Diseases in Twins
Gliosis
Growth Disorders
Nerve Degeneration
Signs and Symptoms
Failure to Thrive
Neurologic Manifestations
Dyskinesias
Ataxia
Cerebellar Ataxia
Dystonia
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
Consciousness Disorders
Unconsciousness
Syncope
Intellectual Disability
Paralysis
Facial Paralysis
Ophthalmoplegia
Ophthalmoplegia, Chronic Progressive External
Paraplegia
Psychophysiologic Disorders
Reflex, Abnormal
Seizures
Sensation Disorders
Hearing Disorders
Hearing Loss
Deafness
Hearing Loss, Sensorineural
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