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
CATCH22 188400
DGCR 188400
DGS 188400
DIGEORGE SYNDROME 188400
DIGEORGE SYNDROME CHROMOSOME REGION 188400
CHROMOSOME 22q11.2 DELETION SYNDROME 188400
THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME 188400
TAKAO VCF SYNDROME 188400
HYPOPLASIA OF THYMUS AND PARATHYROIDS 188400