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
ABCA12 607800
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A 607800
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B 607800
ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12 607800