Skip to content



This pattern is meant to be used for chromosomal disorder which consists of the deletion of chromosomal region in which the chromosomal region is known. Note that to refer to a partial deletion of a chromosome when the region is not know (only the chromosome is known), the partial_chromosome_deletion pattern should be used.



{chromosomal_region} deletion



A chromosomal disorder consisting of the deletion of {chromosomal_region}.

Equivalent to

syndrome caused by partial chromosomal deletion and (disease arises from structure some {chromosomal_region})

Data preview

defined_class defined_class_label chromosomal_region chromosomal_region_label
MONDO:0018632 11q22.2q22.3 microdeletion syndrome CHR:9606-chr11q22.2-q22.3 11q22.2-q22.3 (Human)
MONDO:0017781 12p12.1 microdeletion syndrome CHR:9606-chr12p12.1 12p12.1 (Human)
MONDO:0019784 12q14 microdeletion syndrome CHR:9606-chr12q14 12q14 (Human)
MONDO:0017334 12q15q21.1 microdeletion syndrome CHR:9606-chr12q15-q21.1 12q15-q21.1 (Human)
MONDO:0018474 13q12.3 microdeletion syndrome CHR:9606-chr13q12.3 13q12.3 (Human)

See full table here