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
ADCL Orphanet_90348
ARCL2 Orphanet_90350
ARCL1 Orphanet_90349
Klippel-Trénaunay syndrome Orphanet_90308
Blau syndrome Orphanet_90340
Waldmann disease Orphanet_90362
Anonychia-onychodystrophy syndrome Orphanet_90390
Hereditary von Willebrand disease Orphanet_903
Autosomal dominant cutis laxa Orphanet_90348
Autosomal recessive cutis laxa type 1 Orphanet_90349
Autosomal recessive cutis laxa type 2 Orphanet_90350
Autosomal recessive cutis laxa with severe systemic involvement Orphanet_90349
Autosomal recessive cutis laxa, pulmonary emphysema type Orphanet_90349
Von Willebrand disease Orphanet_903
Telangiectasia macularis eruptiva perstans Orphanet_90389