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
Genetic nail anomaly Orphanet_183454
Genetic pigmentation anomaly of the skin Orphanet_183463
Genetic epidermal appendage anomaly Orphanet_183447
Genetic branchial arch or oral-acral syndrome Orphanet_183576
Rare genetic bone disease Orphanet_183524
Rare genetic coagulation disorder Orphanet_183654
Genetic multiple congenital anomalies/dysmorphic syndrome Orphanet_183533
Congenital functional defect of phagocyte Orphanet_183681
Genetic developmental defect of the eye Orphanet_183557
IgG subclass deficiency with IgA subclass deficiency Orphanet_183675
Genetic immune deficiency with skin involvement Orphanet_183494
Genetic mixed dermis disorder Orphanet_183481
Rare genetic developmental defect during embryogenesis Orphanet_183530
Rare genetic diabetes mellitus Orphanet_183625
Genetic neuromuscular disease Orphanet_183497