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monosomy
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pattern_name: monosomy
pattern_iri: http://purl.obolibrary.org/obo/mondo/patterns/monosomy.yaml
description: 'This pattern is meant to be used for chromosomal anomaly 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'"
name:
text: 'monosomy %s'
vars:
- chromosome
annotations:
- annotationProperty: exact_synonym
text: '%s deletion'
vars:
- chromosome
def:
text: A chromosomal anomaly consisting of the absence of %s.
vars:
- chromosome
equivalentTo:
text: monosomy and ('disease arises from structure' some %s)
vars:
- chromosome