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
ARX 300382
PARTINGTON SYNDROME 300382
LISSENCEPHALY, X-LINKED, 2 300382
HYDRANENCEPHALY WITH ABNORMAL GENITALIA 300382
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA 300382
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 300382
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 300382
ARISTALESS-RELATED HOMEOBOX, X-LINKED 300382