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
ABCD3 170995
PMP70 170995
PXMP1 170995
PEROXISOMAL MEMBRANE PROTEIN 1 170995
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 170995
PEROXISOMAL MEMBRANE PROTEIN, 70-KD 170995
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 170995