susceptibility_by_gene.yaml

pattern_name: susceptibility_by_gene

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

  Examples - [autism, susceptibility to, X-linked 5](http://purl.obolibrary.org/obo/MONDO_0010449),
  [bulimia nervosa, susceptibility to, 2](http://purl.obolibrary.org/obo/MONDO_0012461),
  [nephrolithiasis susceptibility caused by SLC26A1](http://purl.obolibrary.org/obo/MONDO_0020722)'''

description: This pattern should be used for terms in which a gene dysfunction causes
  a predisposition or susceptibility towards developing a specific disease. This pattern
  is a sub-pattern of [inherited_susceptibility.yaml](https://github.com/monarch-initiative/mondo/blob/master/src/patterns/dosdp-patterns/inherited_susceptibility.yaml)

contributors:
- https://orcid.org/0000-0002-6601-2165
- https://orcid.org/0000-0001-5208-3432

classes:
  disease or disorder: MONDO:0000001
  inherited disease susceptibility: MONDO:0020573
  gene: SO:0000704

relations:
  has material basis in germline mutation in: RO:0004003
  predisposes towards: http://purl.obolibrary.org/obo/mondo#predisposes_towards

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

vars:
  gene: '''gene'''
  disease: '''disease or disorder'''

name:
  text: '%s susceptibility, %s form'
  vars:
  - disease
  - gene

annotations:
- annotationProperty: exact_synonym
  text: '%s susceptibility caused by %s'
  vars:
  - disease
  - gene

def:
  text: A susceptibility or predisposition to %s in which the cause of the disease
    is a mutation in the %s gene.
  vars:
  - disease
  - gene

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