trisomy

pattern_name: trisomy

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

description: 'This pattern is meant to be used for chromosomal anomaly which consists of the presence of one additional chromosome from the normal diploid number. Note that the presence of additional chromosome refers to the entire chromosome, and not to part of a chromosome.' 

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

classes:
  trisomy: MONDO:0700065
  chromosome: GO:0005694
  

relations:
  disease arises from structure: RO:0004030

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

vars:
  chromosome: "'chromosome'"

name:
  text: 'trisomy %s'
  vars:
  - chromosome

def:
  text: A chromosomal anomaly consisting of the presence of an extra %s.
  vars:
  - chromosome

equivalentTo:
  text: trisomy and ('disease arises from structure' some %s)
  vars:
  - chromosome