inborn errors of metabolism disease caused by disruption of X

URL

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

Classes

• inborn errors of metabolism: MONDO:0019052
• owl:Thing: owl:Thing

To be completed