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
CDPX2 302960
CDPXD 302960
CPXD 302960
CONRADI-HUNERMANN SYNDROME 302960
CONRADI-HUNERMANN-HAPPLE SYNDROME 302960
HAPPLE SYNDROME 302960
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT 302960