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
Malignant teratoma of ovary Orphanet_398987
Malignant tumor of penis Orphanet_398043
Mucinous adenocarcinoma of the appendix Orphanet_391723
Secondary non-traumatic osteonecrosis Orphanet_399180
Atypical facial pain Orphanet_398147
Familial episodic pain syndrome Orphanet_391384
Autosomal spastic paraplegia type 58 Orphanet_397946
Atypical juvenile parkinsonism Orphanet_391411
Cancer of penis Orphanet_398043
Focal facial preauricular dysplasia Orphanet_398189
Familial isolated prolactin receptor deficiency Orphanet_397685
Methylene tetrahydrofolate reductase deficiency Orphanet_395
T+ B+ severe combined immunodeficiency Orphanet_397802
MAD deficiency, severe neonatal type Orphanet_394529
Predisposition to severe viral infection due to STAT1 deficiency Orphanet_391311