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
AMD 232300
GSD2 232300
CARDIOMEGALIA GLYCOGENICA DIFFUSA 232300
ALPHA-1,4-GLUCOSIDASE DEFICIENCY 232300
GAA DEFICIENCY 232300
GSD II 232300
POMPE DISEASE 232300
GLYCOGENOSIS, GENERALIZED, CARDIAC FORM 232300
GLYCOGEN STORAGE DISEASE II 232300
ACID ALPHA-GLUCOSIDASE DEFICIENCY 232300
ACID MALTASE DEFICIENCY 232300