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
CATHA 613111
CTSA 613111
GALACTOSIALIDOSIS 613111
GLB2 613111
PPCA 613111
PPGB 613111
BETA-GALACTOSIDASE 2 613111
CARBOXYPEPTIDASE L 613111
CATHEPSIN A 613111
GALACTOSIALIDOSIS, ADULT 613111
PROTECTIVE PROTEIN/CATHEPSIN A 613111
GALACTOSIALIDOSIS, EARLY INFANTILE 613111
GALACTOSIALIDOSIS, LATE INFANTILE 613111
BETA-GALACTOSIDASE PROTECTIVE PROTEIN 613111