| 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.
|
Disseminated aseptic abscesses
|
Orphanet_54251 |
|
|
Mixed phenotype acute leukemia
|
Orphanet_530995 |
|
|
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
|
Orphanet_589534 |
|
|
Mixed phenotype acute leukemia with t(v;11q23.3)
|
Orphanet_589595 |
|
|
Chronic cold agglutinin disease
|
Orphanet_56425 |
|
|
Isolated congenital aglossia
|
Orphanet_563951 |
|
|
Retinitis punctata albescens
|
Orphanet_52427 |
|
|
Laminin subunit alpha 2-related LGMD R23
|
Orphanet_565837 |
|
|
Laminin subunit alpha 2-related late-onset muscular dystrophy
|
Orphanet_565837 |
|
|
SYNGAP1-related developmental and epileptic encephalopathy
|
Orphanet_544254 |
|
|
Lethal brain and heart developmental defects
|
Orphanet_580933 |
|
|
Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
|
Orphanet_506112 |
|
|
Familial leiomyomatosis and renal cell cancer
|
Orphanet_523 |
|
|
Hereditary leiomyomatosis and renal cell cancer
|
Orphanet_523 |
|
|
Multiple cutaneous and uterine leiomyomas
|
Orphanet_523 |
|
