| 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.
|
Giant cell chondrodysplasia
|
Orphanet_1190 |
|
|
Aplasia cutis congenita
|
Orphanet_1114 |
|
|
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
|
Orphanet_1116 |
|
|
Arthrogryposis multiplex congenita-whistling face syndrome
|
Orphanet_1150 |
|
|
Isolated asymmetric crying facies
|
Orphanet_1166 |
|
|
Lung agenesis-heart defect-thumb anomalies syndrome
|
Orphanet_1120 |
|
|
Aortic arch defects
|
Orphanet_1132 |
|
|
Ulnar hypoplasia-lobster-claw deformity of feet syndrome
|
Orphanet_1122 |
|
|
Ataxia-hearing loss-intellectual disability syndrome
|
Orphanet_1188 |
|
|
X-linked intellectual disability, Atkin type
|
Orphanet_1193 |
|
|
Rare intestinal disease
|
Orphanet_117569 |
|
|
Salt-losing tubular disorder, Henle's loop type
|
Orphanet_112 |
|
|
Cassia Stocco dos Santos syndrome
|
Orphanet_1101 |
|
|
Aprosencephaly cerebellar dysgenesis
|
Orphanet_1126 |
|
|
X-linked mandibulofacial dysostosis
|
Orphanet_1131 |
|
