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
CLC2 600570
CLCN2 600570
CHLORIDE CHANNEL 2 600570
LEUKOENCEPHALOPATHY WITH ATAXIA 600570
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 600570
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 600570
HYPERALDOSTERONISM, FAMILIAL, TYPE II 600570