| manager |
|
| language |
- |
| license |
- |
| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
|
Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
|
20,514 entries
|
There is 0 pattern entry.
|
Partial monosomy of the short arm of chromosome 9
|
Orphanet_261929 |
|
|
Familial adenomatous polyposis due to 5q22.2 microdeletion
|
Orphanet_261584 |
|
|
Familial adenomatous polyposis due to del(5)(q22.2)
|
Orphanet_261584 |
|
|
Colorectal adenomatous polyposis due to monosomy 5q22.2
|
Orphanet_261584 |
|
|
Familial adenomatous polyposis due to monosomy 5q22.2
|
Orphanet_261584 |
|
|
Linear nevus sebaceus syndrome
|
Orphanet_2612 |
|
|
Yakut short stature syndrome
|
Orphanet_2616 |
|
|
Linear hamartoma syndrome
|
Orphanet_2611 |
|
|
9p deletion syndrome
|
Orphanet_261112 |
|
|
14q11.2 microdeletion syndrome
|
Orphanet_261120 |
|
|
15q11.2 microdeletion syndrome
|
Orphanet_261183 |
|
|
15q14 microdeletion syndrome
|
Orphanet_261190 |
|
|
Nevus sebaceus syndrome
|
Orphanet_2612 |
|
|
Organoid nevus syndrome
|
Orphanet_2612 |
|
|
16p11.2p12.2 microduplication syndrome
|
Orphanet_261204 |
|
