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
Localized dystrophic epidermolysis bullosa, pretibial form Orphanet_79410
Wooly hair nevus Orphanet_79414
Acanthokeratolytic verrucous nevus Orphanet_79468
RDEB, Hallopeau-Siemens type Orphanet_79408
Atypical Werner syndrome Orphanet_79474
Atypical progeroid syndrome Orphanet_79474
Hypopigmentation-neurologic impairment syndrome Orphanet_79476
CYLD cutaneous syndrome Orphanet_79493
Generalized RDEB, severe form Orphanet_79408
Epidermolysis bullosa simplex of palms and soles Orphanet_79400
Epidermolysis bullosa simplex, Weber-Cockayne type Orphanet_79400
Albright hereditary osteodystrophy-PHP syndrome Ia Orphanet_79443
Albright hereditary osteodystrophy-PPHP syndrome Orphanet_79445
Griscelli syndrome type 1 Orphanet_79476
Griscelli-PruniƩras syndrome type 1 Orphanet_79476