| 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.
|
Pure Joubert syndrome
|
Orphanet_475 |
|
|
Splenomegaly-neutropenia-rheumatoid arthritis syndrome
|
Orphanet_47612 |
|
|
17p11.2p12 microduplication syndrome
|
Orphanet_477817 |
|
|
Kosaki overgrowth syndrome
|
Orphanet_477831 |
|
|
Jeune asphyxiating thoracic dystrophy
|
Orphanet_474 |
|
|
Syndromic constitutional thrombocytopenia
|
Orphanet_477794 |
|
|
Isolated constitutional thrombocytopenia
|
Orphanet_477797 |
|
|
Non-syndromic constitutional thrombocytopenia
|
Orphanet_477797 |
|
|
CID due to TFRC deficiency
|
Orphanet_476113 |
|
|
Proximal renal tubular acidosis
|
Orphanet_47159 |
|
|
Joubert syndrome type A
|
Orphanet_475 |
|
|
Familial cold urticaria
|
Orphanet_47045 |
|
|
Rare disorder with a moyamoya angiopathy
|
Orphanet_477771 |
|
