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
ARTEMIS 605988
DCLRE1C 605988
OMENN SYNDROME 605988
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION 605988
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN-TYPE 605988
SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL 605988
DNA CROSS-LINK REPAIR PROTEIN 1C 605988