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
BTHS 302060
MGA2 302060
MGCA2 302060
BARTH SYNDROME 302060
MGA, TYPE II 302060
3-METHYLGLUTACONIC ACIDURIA, TYPE II 302060
CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA 302060