disease_series_by_gene.yaml

pattern_name: disease_series_by_gene

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

description: 'This pattern is for diseases that are caused by a single variation or mutation in
  a single gene, that have gene-based names, such as new disease terms that are requested
  by ClinGen, like MED12-related intellectual disability syndrome. See more details about [disease naming in Mondo here](https://mondo.monarchinitiative.org/pages/disease-naming/).  Examples: [MED12-related
  intellectual disability syndrome](http://purl.obolibrary.org/obo/MONDO_0100000),
  [TTN-related myopathy](http://purl.obolibrary.org/obo/MONDO_0100175), [MYPN-related
  myopathy](http://purl.obolibrary.org/obo/MONDO_0015023)'

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

classes:
  disease: MONDO:0700096
  gene: SO:0000704

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'
  vars:
  - disease
  - gene