polygenic_disorder.yaml

pattern_name: polygenic_disorder

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

description: 'This pattern is for diseases that are caused by a variation (or mutation) in
  a two or more genes. The relation disease has basis in dysfunction should be used for each gene that is affected. For digenic diseases,
  this would be twice, for polygenic diseases, it would be 3 or more.
   Examples: [Usher syndrome, type 1D/F](http://purl.obolibrary.org/obo/MONDO_0100050)'

contributors:
- https://orcid.org/0000-0002-4142-7153
- https://orcid.org/0000-0001-5208-3432

classes:
  disease: MONDO:0000001
  gene: SO:0001217

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

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

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

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

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

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

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