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
BHMED 607078
EDM5 607078
MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY 607078
MULTIPLE EPIPHYSEAL DYSPLASIA, MATN3-RELATED 607078
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 607078