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inborn_metabolic.yaml
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pattern_name: inborn_metabolic
pattern_iri: http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml
description: An inherited metabolic disease that causes disruption of a process.
contributors:
- https://orcid.org/0000-0002-6601-2165
- https://orcid.org/0000-0001-5208-3432
classes:
ieom: MONDO:0019052
process: BFO:0000015
relations:
disease has basis in disruption of: RO:0004021
annotationProperties:
exact_synonym: oio:hasExactSynonym
related_synonym: oio:hasRelatedSynonym
vars:
process: '''process'''
name:
text: inborn %s disorder
vars:
- process
annotations:
- annotationProperty: related_synonym
text: rare inborn error of %s
vars:
- process
- annotationProperty: exact_synonym
text: inborn error of %s
vars:
- process
def:
text: An inherited metabolic disease that is has its basis in the disruption of %s.
vars:
- process
equivalentTo:
text: '''ieom'' and ''disease has basis in disruption of'' some %s'
vars:
- process