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
ABCD4 603214
P70R 603214
PMP69 603214
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 603214
PXMP1L 603214
PEROXISOMAL MEMBRANE PROTEIN 1-LIKE 603214
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 4 603214