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.
Coloboma of inferior eyelid
|
Orphanet_155889 |
|
Incomplete situs inversus
|
Orphanet_157769 |
|
Partial situs inversus
|
Orphanet_157769 |
|
Hypotrichosis with juvenile macular degeneration
|
Orphanet_1573 |
|
Hypotrichosis with juvenile macular dystrophy
|
Orphanet_1573 |
|
Genetic parenchymatous liver disease
|
Orphanet_156604 |
|
Genetic hemophagocytic lymphohistiocytosis
|
Orphanet_158038 |
|
Primary hemophagocytic lymphohistiocytosis
|
Orphanet_158038 |
|
Acquired hemophagocytic lymphohistiocytosis
|
Orphanet_158041 |
|
Secondary hemophagocytic lymphohistiocytosis
|
Orphanet_158041 |
|
Paralytic facial malformation
|
Orphanet_156224 |
|
Facial arteriovenous malformation
|
Orphanet_156230 |
|
Isolated bone marrow mastocytosis
|
Orphanet_158778 |
|
Smoldering systemic mastocytosis
|
Orphanet_158775 |
|
Spondyloepimetaphyseal dysplasia, matrilin-3 type
|
Orphanet_156728 |
|