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
CGD4 233690
CYBA DEFICIENCY 233690
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 233690
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE 233690
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE 233690
CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b 233690