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
Penta-X Orphanet_11
Poly-X Orphanet_11
SCAR2 Orphanet_1170
SMAX2 Orphanet_1145
SPAX7 Orphanet_1182
49,XXXXX syndrome Orphanet_11
Pentasomy X Orphanet_11
Bardet-Biedl syndrome Orphanet_110
Anophthalmia-syndactyly syndrome Orphanet_1106
Ophthalmoacromelic syndrome Orphanet_1106
Barth syndrome Orphanet_111
Johnson-Munson syndrome Orphanet_1112
Aphalangy-syndactyly-microcephaly syndrome Orphanet_1113
Bronspiegel-Zelnick syndrome Orphanet_1116
Gershoni-Baruch-Leibo syndrome Orphanet_1117