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
Hereditary amyloid nephropathy due to lysozyme variant Orphanet_93561
aHUS with neutralizing autoantibodies against factor H Orphanet_93581
Crouzon syndrome-acanthosis nigricans syndrome Orphanet_93262
Idiopathic achalasia of esophagus Orphanet_930
Rare cause of hypertension Orphanet_93618
Nephrogenic syndrome of inappropriate antidiuresis Orphanet_93606
Congenital anomalies of kidney and urinary tract Orphanet_93545
Micromelic dysplasia-dislocation of radius syndrome Orphanet_93329
Classic exstrophy of the bladder Orphanet_93930
Maturity-onset diabetes of the young type 5 Orphanet_93111
Autosomal dominant omodysplasia Orphanet_93328
Autosomal recessive omodysplasia Orphanet_93329
SLE, pediatric onset Orphanet_93552
Non-syndromic renal or urinary tract malformation Orphanet_93546
Syndromic renal or urinary tract malformation Orphanet_93547