pattern_name: disease_series_by_gene_and_inheritance

description: >-
  This pattern is for diseases that are caused by a single mutation in a single gene, that have gene-based names, and are inherited by a specific mechanism, succh as autosomal dominant and autosomal recessive. 
  
  Examples: [Growth hormone insensitivity syndrome with immune dysregulation](https://omim.org/phenotypicSeries/PS245590), Growth hormone insensitivity with immune dysregulation 1, autosomal recessive and Growth hormone insensitivity with immune dysregulation 2, autosomal dominant

classes:
    disease: MONDO:0000001
    gene: SO:0000704
    Mode of inheritance: HP:0000005

relations:
    disease has basis in dysfunction of: RO:0004020
    has modifier: RO:0002573

vars:
    disease: "'disease'"
    gene: "'gene'"
    mode of inheritance: "'Mode of inheritance'"

name:
    text: '%s caused by mutation in %s, %s'
    vars:
      - disease
      - gene
      - mode of inheritance

annotations:
  - annotationProperty: exact_synonym
    text: '%s %s, %s'
    vars:
      - gene
      - disease
      - inheritance
      
  - annotationProperty: exact_synonym
    text: '%s related %s, %s'
    vars:
      - gene
      - disease
      - inheritance
      
def:
    text: Any %s in which the cause of the disease is a mutation in the %s gene, and has %s.
    vars:
      - disease
      - gene
      - inheritance


equivalentTo:
    text: "%s and 'disease has basis in dysfunction of' some %s and 'has modifier' some %s"
    vars:
      - disease
      - gene
      - inheritance


pattern_iri: http://purl.obolibrary.org/obo/mondo/patterns/disease_series_by_gene.yaml
annotationProperties:
    exact_synonym: oio:hasExactSynonym
    related_synonym: oio:hasRelatedSynonym

contributors:
  - https://orcid.org/0000-0002-6601-2165
  - https://orcid.org/0000-0001-5208-3432
  - https://orcid.org/0000-0002-7356-1779
  
