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
BCYM1B 271630
SED, CHONDROITIN SULFATE TYPE 271630
BRACHYOLMIA TYPE 1, TOLEDO TYPE 271630
PAPS-CHONDROITIN SULFATE SULFOTRANSFERASE DEFICIENCY 271630
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE 271630