OMIM Find_IDs Find_Terms Annotation
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created at 2024-09-23 05:55:30 UTC
updated at 2024-09-23 18:21:54 UTC
The OMIM entries, compiled in the following way.
1. The original entries were downloaded from BioPortal, on Sep. 23, 2024.
2. Only the original OMIM entries were extracted, which excluded the STY and MTHU entries.
Namespace for Semantic Web: http://purl.bioontology.org/ontology/OMIM/
Namespace for the OMIM web pages: https://www.omim.org/entry/
116,330 entries
Label
Id
BDPLT1 231200
BSS 231200
GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF 231200
BERNARD-SOULIER SYNDROME 231200
PLATELET GLYCOPROTEIN Ib DEFICIENCY 231200
VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY 231200
BLEEDING DISORDER, PLATELET-TYPE, 1 231200
BERNARD-SOULIER SYNDROME, TYPE A1 231200
BERNARD-SOULIER SYNDROME, TYPE B 231200
BERNARD-SOULIER SYNDROME, TYPE C 231200