chromosomal_region_deletion.yaml

pattern_name: chromosomal_region_deletion

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

description: 'This pattern is meant to be used for chromosomal disorder which consists of the deletion of chromosomal region in which the chromosomal region is known. Note that to refer to a partial deletion of a chromosome when the region is not know (only the chromosome is known), the partial_chromosome_deletion pattern should be used.' 

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

classes:
  syndrome caused by partial chromosomal deletion: MONDO:0000761
  chromosomal region: GO:0098687
  
relations:
  disease arises from structure: RO:0004030

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

vars:
  chromosomal_region: "'chromosomal region'"
# Even though the parent term is GO:0098687, a Monochrom term (CHR:##) is required.

name:
  text: '%s deletion'
  vars:
  - chromosomal_region

annotations:
- annotationProperty: exact_synonym
  text: 'deletion of %s'
  vars:
  - chromosomal_region

def:
  text: A chromosomal disorder consisting of the deletion of %s.
  vars:
  - chromosomal_region

equivalentTo:
  text: '''syndrome caused by partial chromosomal deletion'' and (''disease arises from structure'' some %s)'
  vars:
  - chromosomal_region