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
MADSAM Orphanet_48162
SBMA Orphanet_481
SMAX1 Orphanet_481
Kennedy disease Orphanet_481
X-linked BSMA Orphanet_481
Pyoderma gangrenosum Orphanet_48104
Lewis-Sumner syndrome Orphanet_48162
USP18 deficiency Orphanet_481665
Genetic alopecia Orphanet_481771
Familial schizencephaly Orphanet_481986
X-linked bulbospinal amyotrophy Orphanet_481
X-linked spinal and bulbar muscular atrophy Orphanet_481
Multifocal acquired demyelinating sensory and motor neuropathy Orphanet_48162
Type 1 interferonopathy of childhood Orphanet_481671
PYCR2-related microcephaly-progressive leukoencephalopathy Orphanet_481152