| 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.
|
Extrinsic biliary compression syndrome
|
Orphanet_521219 |
|
|
Adrenal hypoplasia congenita
|
Orphanet_595337 |
|
|
KAT6B-related multiple congenital anomalies syndrome
|
Orphanet_597749 |
|
|
Rare inflammatory/autoimmune corneal disorder
|
Orphanet_519290 |
|
|
Rare genetic corneal disorder
|
Orphanet_522556 |
|
|
Genetic superficial corneal dystrophy
|
Orphanet_522562 |
|
|
Agenesis of corpus callosum with chorioretinal abnormality
|
Orphanet_50 |
|
|
Familial multiple cutaneous leiomyomas
|
Orphanet_523 |
|
|
Hereditary multiple cutaneous leiomyomas
|
Orphanet_523 |
|
|
Familial leiomyomatosis cutis et uteri
|
Orphanet_523 |
|
|
DRS with deafness
|
Orphanet_529574 |
|
|
DURS with deafness
|
Orphanet_529574 |
|
|
GPAA1-related biosynthesis defect
|
Orphanet_529665 |
|
|
Ulnar/fibula ray defect-brachydactyly syndrome
|
Orphanet_52056 |
|
|
Immunodeficiency by defective expression of MHC class II
|
Orphanet_572 |
|
