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
ABCC8 600509
SULFONYLUREA RECEPTOR 600509
SUR 600509
SUR1 600509
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 600509
SULFONYLUREA RECEPTOR, BETA CELL HIGH AFFINITY 600509
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 600509
DIABETES MELLITUS, PERMANENT NEONATAL, 3 600509
DIABETES MELLITUS, PERMANENT NEONATAL, 3, WITH NEUROLOGIC FEATURES 600509
DIABETES MELLITUS, NONINSULIN-DEPENDENT 600509
LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY 600509
ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8 600509