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
GSD type II, late-onset Orphanet_420429
Glycogenosis type II, late-onset Orphanet_420429
Mucolipidosis type III alpha/beta Orphanet_423461
Mucolipidosis type III gamma Orphanet_423470
KWWH type IV Orphanet_420686
Medium chain acyl-CoA dehydrogenase deficiency Orphanet_42
Medium chain acyl-coenzyme A dehydrogenase deficiency Orphanet_42
ML 3 alpha/beta Orphanet_423461
ML III alpha/beta Orphanet_423461
Secondary pulmonary alveolar proteinosis Orphanet_420259
Hyperthermia of anesthesia Orphanet_423
Idiopathic/heritable pulmonary arterial hypertension Orphanet_422
Hereditary gastric cancer Orphanet_423776
Inherited digestive cancer-predisposing syndrome Orphanet_425003
Rare gastric carcinoma Orphanet_423771