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
Autosomal anomaly Orphanet_98127
Autosomal duplication Orphanet_98130
Autosomal trisomy Orphanet_98130
Allosome anomaly Orphanet_98155
Sex-chromosome anomaly Orphanet_98155
Combined dystonia Orphanet_98203
Dystonia-plus syndrome Orphanet_98203
Ehlers-Danlos syndrome Orphanet_98249
Infectious encephalitis Orphanet_98252
Chronic encephalitis Orphanet_98255
Myeloproliferative disorder Orphanet_98274
Myeloproliferative neoplasm Orphanet_98274
Myelodysplastic/myeloproliferative disease Orphanet_98275
Hodgkin lymphoma Orphanet_98293
Genetic lipodystrophy Orphanet_98305