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
CGL2 269700
BERARDINELLI SYNDROME 269700
SEIP SYNDROME 269700
LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM 269700
BRUNZELL SYNDROME, BSCL2-RELATED 269700
LIPOATROPHIC DIABETES, CONGENITAL 269700
LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 2 269700
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 269700
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2 269700