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
CFPD 312060
PFD 312060
PROPERDIN P FACTOR DEFICIENCY 312060
COMPLEMENT FACTOR PROPERDIN DEFICIENCY 312060
PROPERDIN DEFICIENCY, TYPE I 312060
PROPERDIN DEFICIENCY, TYPE II 312060
PROPERDIN DEFICIENCY, TYPE III 312060
PROPERDIN DEFICIENCY, X-LINKED 312060