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inborn errors of metabolism disease caused by disruption of X


This pattern is used for inborn errors of metabolism that cause disruption of a specific biological process, such as enzyme activity or ion transport.

Examples: '5-oxoprolinase deficiency (disease)', inborn disorder of methionine cycle and sulfur amino acid metabolism, inborn aminoacylase deficiency (51 total)



inborn disorder of {process}



An acquired metabolic disease that is has its basis in the disruption of {process}.

Equivalent to

inborn errors of metabolism and (disease has basis in disruption of some {process})

Data preview

defined_class defined_class_label process process_label
MONDO:0009825 5-oxoprolinase deficiency GO:0017168 5-oxoprolinase (ATP-hydrolyzing) activity
MONDO:0005775 G6PD deficiency GO:0004345 glucose-6-phosphate dehydrogenase activity
MONDO:0007068 adenylosuccinate lyase deficiency GO:0070626 (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity
MONDO:0009665 biotinidase deficiency GO:0047708 biotinidase activity
MONDO:0015286 congenital disorder of glycosylation GO:0070085 glycosylation

See full table here