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
CKMT1B 123290
UMTCK 123290
CKMT1, FORMERLY 123290
MTCK, PLACENTAL 123290
MTCK, UBIQUITOUS 123290
CKMT1, CENTROMERIC COPY 123290
CREATINE KINASE, MITOCHONDRIAL 1, CENTROMERIC COPY 123290
CREATINE KINASE, MITOCHONDRIAL 1, FORMERLY 123290
CREATINE KINASE, MITOCHONDRIAL 1B 123290
CREATINE KINASE, UBIQUITOUS MITOCHONDRIAL 123290