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
BPES 110100
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS 110100
BPES WITH DUANE RETRACTION SYNDROME 110100
BPES, TYPE I 110100
BPES, TYPE II 110100
BPES WITH OVARIAN FAILURE 110100
BPES WITHOUT OVARIAN FAILURE 110100