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
ABC2 600047
ABCA2 600047
KIAA1062 600047
ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 2 600047
ABC TRANSPORTER 2 600047
ATP-BINDING CASSETTE 2 600047
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND SEIZURES WITHOUT ATAXIA 600047
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH, SEIZURES, AND ATAXIA 600047
ATP-BINDING CASSETTE TRANSPORTER 2 600047