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
CGD2 233710
NCF2 DEFICIENCY 233710
p67-PHOX DEFICIENCY 233710
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 233710
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 233710
GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY 233710
NEUTROPHIL CYTOSOL FACTOR 2 DEFICIENCY 233710
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II 233710