monosomy.yaml

pattern_name: monosomy

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

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

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

classes:
  monosomy: MONDO:0020639
  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: 'monosomy %s'
  vars:
  - chromosome

annotations:
- annotationProperty: exact_synonym
  text: '%s deletion'
  vars:
  - chromosome

def:
  text: A chromosomal disorder consisting of the absence of one %s.
  vars:
  - chromosome

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