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
Mosaic NF1-like syndrome Orphanet_634511
Vascular Ehlers-Danlos-polymicrogyria syndrome Orphanet_636941
Rare epithelial tumor of stomach Orphanet_63443
Mosaic neurofibromatosis type 1 Orphanet_634461
Nonmosaic neurofibromatosis type 1 Orphanet_636
Mosaic neurofibromatosis type 2 Orphanet_634475
Full neurofibromatosis type 2 Orphanet_637
Nonmosaic neurofibromatosis type 2 Orphanet_637
Mosaic neurofibromatosis type 3 Orphanet_634492
Spinocerebellar ataxia type 44 Orphanet_631095
Spinocerebellar ataxia type 48 Orphanet_631103
Spinocerebellar ataxia type 49 Orphanet_631106
Carcinoma of unknown primary Orphanet_631251
Carcinoma of unknown primary origin Orphanet_631251
Cancer of unknown primary site Orphanet_631251