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
ABCC7 602421
CFTR 602421
HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO 602421
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF 602421
CFTR POLYMORPHISM 602421
CYSTIC FIBROSIS 602421
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 602421
SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS 602421
PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO 602421
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR 602421
ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 7 602421