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
ATL1 606439
ATLASTIN 606439
NEUROPATHY, HEREDITARY SENSORY, TYPE ID 606439
SPG3A 606439
SPG3A GENE 606439
ATLASTIN GTPase 1 606439
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT 606439