monosomy¶
http://purl.obolibrary.org/obo/mondo/patterns/monosomy.yaml
Description¶
This pattern is meant to be used for chromosomal disorder 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¶
Name¶
monosomy {chromosome}
Annotations¶
- exact_synonym: {chromosome} deletion
Definition¶
A chromosomal disorder consisting of the absence of one {chromosome}.
Equivalent to¶
monosomy and (disease arises from structure some {chromosome})
Data preview¶
| defined_class | defined_class_label | chromosome | chromosome_label |
|---|---|---|---|
| MONDO:0019891 | monosomy 22 | CHR:9606-chr22 | chromosome 22 (Human) |
| MONDO:0020466 | monosomy X | CHR:9606-chrX | chromosome X (Human) |
| MONDO:0700035 | monosomy chromosome 8 | CHR:9606-chr8 | chromosome 8 (Human) |
See full table here