chromosomal_region_duplication.yaml

pattern_name: chromosomal_region_duplication

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

description: 'This pattern is meant to be used for chromosomal disorder which consists in the duplication of chromosomal region in which the chromosomal region is known. "Duplication" means an increase of copy number, and includes an extra copy (partial trisomy) and 2 extra copies (partial tetrasomy, also called triplication) of chromosomal region. Note that this pattern does not include the duplication of the entire chromosome (trisomy, tetrasomy, pentasomy).' 

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

classes:
  'syndrome caused by partial chromosomal duplication': MONDO:0000762
  '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 duplication syndrome'
  vars:
  - chromosomal_region

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

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