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
BTHLM1 158810
LGMDD5 158810
BETHLEM MYOPATHY 158810
BETHLEM MYOPATHY 1 158810
MUSCULAR DYSTROPHY, BENIGN CONGENITAL MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 5 158810
MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES 158810