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
ABC1 600046
ABCA1 600046
CERP 600046
RECLASSIFIED - ABCA1 POLYMORPHISM 600046
CHOLESTEROL EFFLUX REGULATORY PROTEIN 600046
ATP-BINDING CASSETTE TRANSPORTER 1 600046
HIGH DENSITY LIPOPROTEIN DEFICIENCY 600046
TANGIER DISEASE 600046
ABC TRANSPORTER 1 600046
ATP-BINDING CASSETTE 1 600046
ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1 600046
TANGIER DISEASE, VARIANT 600046