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
Preaxial digit brachydactyly-webbed fingers Orphanet_633211
GH receptor deficiency Orphanet_633
Phosphoribosylaminoimidazole carboxylase deficiency Orphanet_633099
Von Recklinghausen disease Orphanet_636
Glaucomatocyclitic crisis disease Orphanet_636950
Short stature due to growth hormone resistance Orphanet_633
Angel-shaped phalango-epiphyseal dysplasia Orphanet_63442
Borna virus encephalitis Orphanet_637051
Rare gastric epithelial tumor Orphanet_63443
Isolated proximal femoral focal deficiency Orphanet_633228
Endemic pemphigus foliaceus Orphanet_636955
Congenital isolated growth hormone deficiency Orphanet_631
Non-acquired isolated growth hormone deficiency Orphanet_631
Complete growth hormone insensitivity Orphanet_633
Primary growth hormone insensitivity Orphanet_633