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
CGT 601291
UGT8 601291
CEREBROSIDE SYNTHASE 601291
UDP GLYCOSYLTRANSFERASE 8 601291
UDP-GALACTOSE CERAMIDE GALACTOSYLTRANSFERASE 601291
URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 8 601291