OMIM Find_IDs Find_Terms Annotation
manager
language -
license -
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
APRF 102582
STAT3 102582
HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS 102582
SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3 102582
ACUTE-PHASE RESPONSE FACTOR 102582
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 102582