| 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.
|
Autosomal dominant hypocalcemia
|
Orphanet_428 |
|
|
Severe combined immunodeficiency due to CTPS1 deficiency
|
Orphanet_420573 |
|
|
Woolly hair-palmoplantar keratoderma syndrome
|
Orphanet_420686 |
|
|
Pompe disease, late-onset
|
Orphanet_420429 |
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2Y
|
Orphanet_424261 |
|
|
Carcinoma of liver and IBT
|
Orphanet_424936 |
|
|
Carcinoma of liver and intrahepatic biliary tract
|
Orphanet_424936 |
|
|
ARX-related encephalopathy-brain malformation spectrum
|
Orphanet_423655 |
|
|
Cutaneous larva migrans
|
Orphanet_423717 |
|
|
Intraductal papillary mucinous carcinoma of pancreas
|
Orphanet_424058 |
|
|
TOR1AIP1-related limb-girdle muscular dystrophy
|
Orphanet_424261 |
|
|
Autosomal recessive muscular dystrophy due to LAP1B deficiency
|
Orphanet_424261 |
|
|
Transient abnormal myelopoiesis
|
Orphanet_420611 |
|
|
Solid pseudopapillary neoplasm of the pancreas
|
Orphanet_424065 |
|
|
Rare autonomic nervous system disorder
|
Orphanet_423662 |
|
