partial_chromosomal_deletion¶
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¶
Name¶
partial deletion of {chromosome}
Annotations¶
- exact_synonym: deletion of part of {chromosome}
Definition¶
A chromosomal disorder consisting of the partial deletion of {chromosome}.
Equivalent to¶
syndrome caused by partial chromosomal deletion and (disease arises from structure some {chromosome})
Data preview¶
| defined_class | defined_class_label | chromosome | chromosome_label |
|---|---|---|---|
| MONDO:0015607 | partial chromosome Y deletion | CHR:9606-chrY | chromosome Y (Human) |
| MONDO:0016866 | partial deletion of chromosome 1 | CHR:9606-chr1 | chromosome 1 (Human) |
| MONDO:0016875 | partial deletion of chromosome 10 | CHR:9606-chr10 | chromosome 10 (Human) |
| MONDO:0016876 | partial deletion of chromosome 11 | CHR:9606-chr11 | chromosome 11 (Human) |
| MONDO:0017277 | partial deletion of chromosome 12 | CHR:9606-chr12 | chromosome 12 (Human) |
See full table here