| 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 recessive distal spinal muscular atrophy type 1
|
Orphanet_98920 |
|
|
Fleck corneal dystrophy
|
Orphanet_98970 |
|
|
Autosomal dominant dopa-responsive dystonia
|
Orphanet_98808 |
|
|
Hemolytic anemia due to a disorder of glycolytic enzymes
|
Orphanet_98372 |
|
|
Monogenic obesity due to a leptin-melanocortin pathway anomaly
|
Orphanet_98267 |
|
|
Hemolytic anemia due to an erythroenzymopathy
|
Orphanet_98374 |
|
|
Bleeding diathesis due to glycoprotein VI deficiency
|
Orphanet_98885 |
|
|
Male infertility due to gonadal dysgenesis
|
Orphanet_98313 |
|
|
Male infertility due to impaired sperm transport
|
Orphanet_98343 |
|
|
Bleeding diathesis due to integrin alpha2-beta1 deficiency
|
Orphanet_98886 |
|
|
Constitutional anemia due to iron metabolism disorder
|
Orphanet_98360 |
|
|
Angelman syndrome due to maternal 15q11q13 deletion
|
Orphanet_98794 |
|
|
Angelman syndrome due to maternal monosomy 15q11q13
|
Orphanet_98794 |
|
|
Male infertility due to obstructive azoospermia
|
Orphanet_98343 |
|
|
Prader-Willi syndrome due to paternal 15q11q13 deletion
|
Orphanet_98793 |
|
