Example image of eyePlorer eyePlorer map for 'Inborn error of metabolism': Genetic disorder Metabolism Enzyme Enzyme substrate Gene Product (chemistry) Archibald Garrod Alkaptonuria One gene-one enzyme hypothesis Amino acid Carbohydrate Lysosomal storage disease Organic acid International Statistical Classification of Diseases and Related Health Problems Acute intermittent porphyria Congenital adrenal hyperplasia Glutaric aciduria type 1 Glycogen storage disease Inborn error of lipid metabolism Inborn errors of amino acid metabolism Maple syrup urine disease Medium-chain acyl-coenzyme A dehydrogenase deficiency Mitochondrion Organic acidemia Peroxisome Phenylketonuria Porphyrin Purine Pyrimidine Steroid Abdominal pain Adrenal insufficiency Anemia Blindness Congenital disorder Dehydration Delayed puberty Dementia Developmental disability Diabetes mellitus Diagnostic test Diarrhea Edema Encephalopathy Failure to thrive Growth failure Hearing impairment Heart failure Hepatomegaly Hirsutism
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