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312170
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PYRUVATE DECARBOXYLASE DEFICIENCY
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Musculoskeletal Diseases
Muscular Diseases
Muscle Weakness
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Microcephaly
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Brain Damage, Chronic
Cerebral Palsy
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Maple Syrup Urine Disease
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Cerebellar Diseases
Cerebellar Ataxia
Cranial Nerve Diseases
Optic Nerve Diseases
Optic Atrophy
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
Neurologic Manifestations
Dyskinesias
Ataxia
Cerebellar Ataxia
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Pyruvate Dehydrogenase Complex Deficiency Disease
Psychomotor Disorders
Neuromuscular Manifestations
Muscle Hypotonia
Muscle Weakness
Paralysis
Quadriplegia
Neuromuscular Diseases
Eye Diseases
Optic Nerve Diseases
Optic Atrophy
Hemic and Lymphatic Diseases
Hematologic Diseases
Anemia
Anemia, Macrocytic
Anemia, Megaloblastic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Microcephaly
Nervous System Malformations
Malformations of Cortical Development
Microcephaly
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
Pyruvate Dehydrogenase Complex Deficiency Disease
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Pyruvate Dehydrogenase Complex Deficiency Disease
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Maple Syrup Urine Disease
Brain Diseases, Metabolic, Inborn
Maple Syrup Urine Disease
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Carbohydrate Metabolism, Inborn Errors
Pyruvate Metabolism, Inborn Errors
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Infant, Newborn, Diseases
Nutritional and Metabolic Diseases
Metabolic Diseases
Acid-Base Imbalance
Acidosis
Acidosis, Lactic
Ketosis
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Maple Syrup Urine Disease
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Calcium Metabolism Disorders
Hypocalcemia
Glucose Metabolism Disorders
Hypoglycemia
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Maple Syrup Urine Disease
Brain Diseases, Metabolic, Inborn
Maple Syrup Urine Disease
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Carbohydrate Metabolism, Inborn Errors
Pyruvate Metabolism, Inborn Errors
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Mitochondrial Diseases
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Water-Electrolyte Imbalance
Hypocalcemia
Nutrition Disorders
Malnutrition
Deficiency Diseases
Avitaminosis
Vitamin B Deficiency
Thiamine Deficiency
Pathological Conditions, Signs and Symptoms
Pathologic Processes
Chromosome Aberrations
Aneuploidy
Monosomy
Chromosome Deletion
Disease
Syndrome
Muscle Weakness
Signs and Symptoms
Neurologic Manifestations
Dyskinesias
Ataxia
Cerebellar Ataxia
Neurobehavioral Manifestations
Intellectual Disability
Psychomotor Disorders
Neuromuscular Manifestations
Muscle Hypotonia
Muscle Weakness
Paralysis
Quadriplegia
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