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
Transitional cell carcinoma of the pelvis and ureter Orphanet_598216
Transitional cell carcinoma of the upper urinary tract Orphanet_598216
Perivascular epithelioid cell neoplasm Orphanet_595133
Neonatal ichthyosis-sclerosing cholangitis syndrome Orphanet_59303
Incomplete septal cirrhosis Orphanet_596941
Adrenal hypoplasia congenita Orphanet_595337
KAT6B-related multiple congenital anomalies syndrome Orphanet_597749
Acquired F8 deficiency Orphanet_599480
Acquired F9 deficiency Orphanet_599485
X-linked intellectual disability-hypotonia syndrome Orphanet_59
IgG4-related systemic disease Orphanet_596448
Portosinusoidal vascular disease Orphanet_596937
Central core disease Orphanet_597
GNAO1-related neurodevelopmental disorder Orphanet_592564
Laing early-onset distal myopathy Orphanet_59135