ORDO Find_IDs Find_Terms Annotation
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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
Label
Id
Necrotizing enterocolitis Orphanet_391673
SOPH syndrome Orphanet_391677
MMT type 1 Orphanet_391641
MMT type 2 Orphanet_391646
Transient neonatal acquired myasthenia Orphanet_391504
Appendiceal mucinous adenocarcinoma Orphanet_391723
Hereditary sensory and autonomic neuropathy type 7 Orphanet_391397
Hereditary sensory and autonomic neuropathy type VII Orphanet_391397
Disorder of asparagine metabolism Orphanet_391381
Short stature-optic atrophy-Pelger-Huët anomaly syndrome Orphanet_391677
Transient neonatal autoimmune myasthenia gravis Orphanet_391504
East Texas bleeding disorder Orphanet_391320
2-methyl-3-hydroxybutyric aciduria, classic type Orphanet_391428
HSD10 deficiency, classic type Orphanet_391428
HSD10 disease, classic type Orphanet_391428