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pentasomy.yaml
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pentasomy.yaml
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pattern_name: pentasomy
pattern_iri: http://purl.obolibrary.org/obo/mondo/patterns/pentasomy.yaml
description: 'This pattern is meant to be used for chromosomal disorder which consists of the presence of three additional chromosomes of the same type from the normal diploid number. Note that the presence of additional chromosomes refers to the entire chromosome, and not to part of a chromosome.'
contributors:
- https://orcid.org/0000-0002-4142-7153
classes:
pentasomy: MONDO:0700085
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: 'pentasomy %s'
vars:
- chromosome
def:
text: A chromosomal disorder consisting of the presence of 3 extra chromosomes %s.
vars:
- chromosome
equivalentTo:
text: pentasomy and ('disease arises from structure' some %s)
vars:
- chromosome