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
CAV3 601253
M-CAVEOLIN 601253
CAVEOLIN 3 601253
RIPPLING MUSCLE DISEASE 2 601253
RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE 601253
CREATINE PHOSPHOKINASE, ELEVATED SERUM 601253
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 601253
LONG QT SYNDROME 2/9, DIGENIC 601253
LONG QT SYNDROME 9 601253
LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO 601253
MYOPATHY, DISTAL, TATEYAMA TYPE 601253