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
Non-syndromic preaxial polydactyly Orphanet_498464
Non-syndromic postaxial polydactyly Orphanet_498467
Non-syndromic complex polydactyly Orphanet_498470
MYBPC1-related autosomal recessive non-lethal AMC syndrome Orphanet_498693
Hyaline fibromatosis syndrome Orphanet_498474
Short rib-polydactyly syndrome type 5 Orphanet_498497
Overgrowth or tall stature syndrome with skeletal involvement Orphanet_498448
Non-syndromic terminal transverse limb defect Orphanet_498461
Cystic epithelial-stromal tumors of the prostate Orphanet_498228
Overgrowth syndrome with 2q37 translocation Orphanet_498488