inborn_metabolic_disrupts.yaml

pattern_name: inborn errors of metabolism disease caused by disruption of X

pattern_iri: 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. \n\
  Examples: ['5-oxoprolinase deficiency (disease)'](http://purl.obolibrary.org/obo/MONDO_0009825),\
  \ [inborn disorder of methionine cycle and sulfur amino acid metabolism](http://purl.obolibrary.org/obo/MONDO_0019222),\
  \ [inborn aminoacylase deficiency](http://purl.obolibrary.org/obo/MONDO_0017686)\
  \ (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

relations:
  disease has basis in disruption of: RO:0004021

annotationProperties:
  exact_synonym: oio:hasExactSynonym
  related_synonym: oio:hasRelatedSynonym

vars:
  process: '''owl_thing'''

name:
  text: inborn disorder of %s
  vars:
  - process

annotations:
- annotationProperty: exact_synonym
  text: inborn error of %s
  vars:
  - process
- annotationProperty: related_synonym
  text: rare inborn error of %s
  vars:
  - process

def:
  text: An acquired metabolic disease that is has its basis in the disruption of %s.
  vars:
  - process

equivalentTo:
  text: '''inborn errors of metabolism'' and (''disease has basis in disruption of'' some %s)'
  vars:
  - process