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partial_chromosomal_deletion.yaml
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pattern_name: partial_chromosomal_deletion
pattern_iri: http://purl.obolibrary.org/obo/mondo/patterns/partial_chromosomal_deletion.yaml
description: 'This pattern is meant to be used for chromosomal disorder which consists of the deletion of part of a chromosome in which only the chromosome which part is deleted is known (the chromosomal region is not known). Note that when the chromosomal region is known, the chromosomal_region_deletion pattern should be used. Also note that this pattern does not include the loss of the entire chromosome (monosomy).'
contributors:
- https://orcid.org/0000-0002-4142-7153
classes:
syndrome caused by partial chromosomal deletion: MONDO:0000761
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: 'partial deletion of %s'
vars:
- chromosome
annotations:
- annotationProperty: exact_synonym
text: 'deletion of part of %s'
vars:
- chromosome
def:
text: A chromosomal disorder consisting of the partial deletion of %s.
vars:
- chromosome
equivalentTo:
text: '''syndrome caused by partial chromosomal deletion'' and (''disease arises from structure'' some %s)'
vars:
- chromosome