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
Inherited hematologic cancer-predisposing syndrome Orphanet_619340
Eyelid sebaceous carcinoma Orphanet_658590
Basal cell carcinoma of the buccal mucosa Orphanet_667678
Basal cell carcinoma of the oral cavity Orphanet_667678
Intraoral basal cell carcinoma Orphanet_667678
Diffuse-type giant cell tumor Orphanet_66627
Tenosynovial giant cell tumor Orphanet_66627
Pancreatic and cerebellar agenesis Orphanet_65288
Acute postinfectious cerebellar ataxia Orphanet_624244
Rapidely progressive cerebellar syndrome Orphanet_623626
Low phospholipid-associated cholelithiasis Orphanet_69663
Gravidic intrahepatic cholestasis Orphanet_69665
Recurrent intrahepatic cholestasis of pregnancy Orphanet_69665
LGMD D5 collagen 6-related dystrophy Orphanet_610
LGMD R22 collagen 6-related dystrophy Orphanet_610