ring_chromosome_anomaly.yaml

pattern_name: ring_chromosome_anomaly

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

description: 'This pattern is meant to be used for chromosomal disorder which consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.'

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

classes:
  ring chromosome disorder: MONDO:0700091
  chromosome: GO:0005694


relations:
  disease arises from structure: RO:0004030

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

vars:
  chromosome: "'chromosome'"
# Even though the parent term is GO:0005694, a Monochrom term (CHR:##) is required.

name:
  text: 'ring chromosome %s disorder'
  vars:
  - chromosome

def:
  text: A chromosomal disorder consisting of the presence of ring chromosome %s.
  vars:
  - chromosome

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