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
AMEDS 619151
ADDS 619151
BMFS7 619151
ALDEHYDE DEGRADATION DEFICIENCY SYNDROME 619151
AMED SYNDROME, DIGENIC 619151
BONE MARROW FAILURE SYNDROME 7, DIGENIC 619151