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



trisomy {chromosome}


A chromosomal disorder consisting of the presence of an extra {chromosome}.

Equivalent to

trisomy and (disease arises from structure some {chromosome})

Data preview

defined_class defined_class_label chromosome chromosome_label
MONDO:0022180 chromosome 16 trisomy CHR:9606-chr16 chromosome 16 (Human)
MONDO:0022757 chromosome 20 trisomy CHR:9606-chr20 chromosome 20 (Human)
MONDO:0043452 chromosome 8, trisomy CHR:9606-chr8 chromosome 8 (Human)
MONDO:0018068 trisomy 13 CHR:9606-chr13 chromosome 13 (Human)
MONDO:0018071 trisomy 18 CHR:9606-chr18 chromosome 18 (Human)

See full table here