nonhuman_disease_series_by_gene.yaml

pattern_name: nonhuman_disease_series_by_gene

pattern_iri: http://purl.obolibrary.org/obo/mondo/patterns/nonhuman_disease_series_by_gene.yaml

description: 'This pattern is for non-human diseases that are defined based on a variation in one gene, such as many genetic diseases from the Online Mendelian Inheritance in Animals (OMIA).  Examples: TBD '

contributors:
- https://orcid.org/0000-0002-4142-7153
- https://orcid.org/0000-0002-5002-8648

classes:
  disease: MONDO:0005583
  gene: SO:0000704
  taxon: NCBITaxon:1

relations:
  has material basis in germline mutation in: RO:0004003
  in taxon: RO:0002162

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

vars:
  disease: '''disease'''
  gene: '''gene'''
  taxon: '''taxon'''

name:
  text: '%s caused by variation in %s, %s'
  vars:
  - disease
  - gene
  - taxon

annotations:
- annotationProperty: exact_synonym
  text: '%s %s, %s'
  vars:
  - gene
  - disease
  - taxon
- annotationProperty: exact_synonym
  text: '%s related %s, %s'
  vars:
  - gene
  - disease
  - taxon
- annotationProperty: exact_synonym
  text: '%s caused by mutation in %s, %s'
  vars:
  - disease
  - gene
  - taxon

def:
  text: Any %s, occuring in %s, in which the cause of the disease is a variation in the %s gene.
  vars:
  - disease
  - taxon
  - gene

equivalentTo:
  text: '%s and (''has material basis in germline mutation in'' some %s) and (''in taxon'' some %s)'
  vars:
  - disease
  - gene
  - taxon