inborn errors of metabolism disease caused by disruption of X

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml

Description

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)

Contributors

• https://orcid.org/0000-0002-6601-2165
• https://orcid.org/0000-0001-5208-3432

Name

inborn disorder of {process}

Annotations

• exact_synonym: inborn error of {process}

• related_synonym: rare inborn error of {process}

Definition

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