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
ARCI4B 242500
HI 242500
'HARLEQUIN FETUS' 242500
HARLEQUIN ICHTHYOSIS 242500
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B 242500
ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE 242500