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
APCA 108500
EA2 108500
CAPA 108500
EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED 108500
ATAXIA, FAMILIAL PAROXYSMAL 108500
CEREBELLOPATHY, HEREDITARY PAROXYSMAL 108500
ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA 108500
CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE 108500
EPISODIC ATAXIA, TYPE 2 108500
ATAXIA, EPISODIC, WITH NYSTAGMUS 108500