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bn:00046251n
Noun Concept
Categories: Medical genetics, Metabolism, Inborn errors of metabolism
EN
inborn error of metabolism  inborn errors of metabolism  inherited metabolic disorder  congenital metabolic disease  enzyme deficiency
EN
Any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism WordNet 3.0
Definitions
Relations
Sources
EN
Any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism WordNet 3.0 & Open English WordNet
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. Wikipedia
Class of disease including endocrine diseases, nutritional diseases and metabolic diseases Wikidata
IS A
genetic disease
metabolic disorder
rare disease
HAS KIND
galactosemia
lysinemia
Niemann-Pick disease
phenylketonuria
porphyria
+31 relations
HAS INSTANCE
trimethylaminuria
cytochrome P450 oxidoreductase deficiency
DRUG USED FOR TREATMENT
biotin
HEALTH SPECIALTY
medical genetics
WordNet 3.0 & Open English WordNet
EN
inborn error of metabolism
Wikipedia
EN
inborn errors of metabolism
Wikidata
EN
inherited metabolic disorder
Wikipedia Redirections
EN
congenital metabolic disease, enzyme deficiency, enzymopathy, errors of metabolism, Inborn amino acid metabolism disorder, inborn error of metabolism, Inborn metabolic disorder, Inherited biochemical defects, inherited metabolic diseases, Metabolic defect, metabolic deficiencies, Metabolic Diseases, Metabolism, inborn error, Metabolism, inborn errors, Metabolistic disease, Storage disease, Storage disorder
Wikidata Alias
EN
Inborn error of metabolism, Inborn errors of metabolism, Inborn Errors of Metabolism, Inborn metabolism disorder, Metabolic hereditary disorder, Metabolism, Inborn Errors

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