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
CLC1 118425
CLCN1 118425
MYOTONIA LEVIOR 118425
CHLORIDE CHANNEL 1, SKELETAL MUSCLE 118425
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT 118425
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE 118425
CHLORIDE CHANNEL, MUSCLE 118425