disease_series_by_gene_and_inheritance.yaml

pattern_name: disease_series_by_gene_and_inheritance

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 mutation in\
  \ a single gene, that have gene-based names, and are inherited by a specific mechanism,\
  \ succh as autosomal dominant and autosomal recessive. \nExamples: [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"

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

classes:
  disease: MONDO:0700096
  gene: SO:0000704
  mode of inheritance: HP:0000005

relations:
  has material basis in germline mutation in: RO:0004003
  has characteristic: RO:0000053

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

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
  - mode_of_inheritance
- annotationProperty: exact_synonym
  text: '%s related %s, %s'
  vars:
  - gene
  - disease
  - mode_of_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
  - mode_of_inheritance

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