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
BHSA 617596
MAAID 617596
MHSA 617596
BENIGN HYPERSUCCINYLACETONEMIA 617596
HYPERSUCCINYLACETONEMIA, MILD 617596
MAAI DEFICIENCY 617596
MALEYLACETOACETATE ISOMERASE DEFICIENCY 617596