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
CGL1 608594
BSCL1 608594
BRUNZELL SYNDROME, AGPAT2-RELATED 608594
LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 1 608594
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 608594
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1 608594