| 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.
|
Mandibuloacral dysplasia progeroid syndrome
|
Orphanet_647667 |
|
|
Berlin breakage syndrome
|
Orphanet_647 |
|
|
Immunodeficiency-microcephaly-chromosomal instability syndrome
|
Orphanet_647 |
|
|
Microcephaly-immunodeficiency-lymphoid malignancy syndrome
|
Orphanet_647 |
|
|
Nijmegen breakage syndrome
|
Orphanet_647 |
|
|
Iridocorneal endothelial syndrome
|
Orphanet_64734 |
|
|
Ovarian hyperstimulation syndrome
|
Orphanet_64739 |
|
|
Nevus comedonicus syndrome
|
Orphanet_64754 |
|
|
Becker naevus syndrome
|
Orphanet_64755 |
|
|
Becker nevus syndrome
|
Orphanet_64755 |
|
|
Adrenal Cushing syndrome
|
Orphanet_647758 |
|
|
MYT1L-related Prader-Willi-like syndrome
|
Orphanet_647799 |
|
|
Congenital insensitivity to pain and thermal analgesia
|
Orphanet_64752 |
|
|
Seemanova syndrome type 2
|
Orphanet_647 |
|
|
Ataxia-oculomotor apraxia type 2
|
Orphanet_64753 |
|
