| 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.
|
NCKAP1L-associated hyperinflammatory disorder
|
Orphanet_619953 |
|
|
Congenital neutropenia-CID due to MKL1 deficiency
|
Orphanet_619941 |
|
|
Pontocerebellar hypoplasia due to TBC1D23
|
Orphanet_611247 |
|
|
Rare disorder due to inadequate sharing of the placenta
|
Orphanet_617313 |
|
|
Rare disorder due to unbalanced inter-twin blood transfusion
|
Orphanet_617310 |
|
|
Bethlem muscular dystrophy
|
Orphanet_610 |
|
|
Amniotic fluid embolism
|
Orphanet_617304 |
|
|
Selective fetal growth restriction
|
Orphanet_617301 |
|
|
Selective intrauterine growth restriction
|
Orphanet_617301 |
|
|
COASY-related pontocerebellar hypoplasia
|
Orphanet_611256 |
|
|
Acute reversible leukoencephalopathy due to SLC13A3 deficiency
|
Orphanet_615964 |
|
|
Familial hyperinflammatory lymphoproliferative immunodeficiency
|
Orphanet_619953 |
|
|
Congenital primary megalo-ureter
|
Orphanet_617 |
|
|
Congenital primary megaureter
|
Orphanet_617 |
|
|
Conjunctival malignant melanoma
|
Orphanet_617910 |
|
