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
CGD1 233700
NCF1 DEFICIENCY 233700
SOC2 DEFICIENCY 233700
p47-PHOX DEFICIENCY 233700
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 233700
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I 233700
GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY 233700
SOLUBLE OXIDASE COMPONENT II DEFICIENCY 233700
NEUTROPHIL CYTOSOL FACTOR 1 DEFICIENCY 233700
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE I 233700