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
Growth hormone receptor deficiency Orphanet_633
Fatty acyl-CoA reductase 1 superactivity Orphanet_615938
Rare disorder related to monochorionic twin pregnancy Orphanet_617307
Alloimmune neonatal renal disease Orphanet_69063
Primary GH resistance Orphanet_633
Tuberculosis of respiratory system Orphanet_645814
Paraneoplastic isolated rhombencephalitis Orphanet_624190
Paraneoplastic isolated rhomboencephalitis Orphanet_624190
Mast cell sarcoma Orphanet_66661
Very early-onset schizophrenia Orphanet_641496
Mosaic NF2-related schwannomatosis Orphanet_634475
Full NF2-related schwannomatosis Orphanet_637
Nonmosaic NF2-related schwannomatosis Orphanet_637
Twin anemia-polycythemia sequence Orphanet_617294
Spinal dermal sinus Orphanet_645188