Synset

any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
<noun.state>

inborn error of metabolism

semantic pointers

hypernym

metabolic disorder genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition

hyponym

galactosemia lysinemia Niemann-Pick disease phenylketonuria, PKU