| 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.
|
ACS1
|
Orphanet_87 |
|
|
Tungiasis
|
Orphanet_879 |
|
|
Familial PCCD
|
Orphanet_871 |
|
|
Apert syndrome
|
Orphanet_87 |
|
|
Down syndrome
|
Orphanet_870 |
|
|
Trisomy 21
|
Orphanet_870 |
|
|
Aggressive fibromatosis
|
Orphanet_873 |
|
|
Desmoid tumor
|
Orphanet_873 |
|
|
Meleda disease
|
Orphanet_87503 |
|
|
Neuroendocrine neoplasm
|
Orphanet_877 |
|
|
Sialidosis type 2
|
Orphanet_87876 |
|
|
Hereditary bundle branch defect
|
Orphanet_871 |
|
|
Mal de Meleda
|
Orphanet_87503 |
|
|
Acrocephalosyndactyly type 1
|
Orphanet_87 |
|
|
Isolated genetic deafness
|
Orphanet_87884 |
|
