ring_chromosome_anomaly¶
http://purl.obolibrary.org/obo/mondo/patterns/ring_chromosome_anomaly.yaml
Description¶
This pattern is meant to be used for chromosomal disorder which consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome.
Contributors¶
Name¶
ring chromosome {chromosome} disorder
Definition¶
A chromosomal disorder consisting of the presence of ring chromosome {chromosome}.
Equivalent to¶
ring chromosome disorder and (disease arises from structure some {chromosome})
Data preview¶
| defined_class | defined_class_label | chromosome | chromosome_label |
|---|---|---|---|
| MONDO:0019926 | X small rings | CHR:9606-chrX | chromosome X (Human) |
| MONDO:0015443 | chromosome 8-derived supernumerary ring/marker | CHR:9606-chr8 | chromosome 8 (Human) |
| MONDO:0015430 | ring chromosome 1 | CHR:9606-chr1 | chromosome 1 (Human) |
| MONDO:0015431 | ring chromosome 10 | CHR:9606-chr10 | chromosome 10 (Human) |
| MONDO:0019906 | ring chromosome 11 | CHR:9606-chr11 | chromosome 11 (Human) |
See full table here