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created at |
2024-09-23 05:55:30 UTC |
updated at |
2024-09-23 18:21:54 UTC |
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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/
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116,330 entries
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There is 0 pattern entry.
ABCC7
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602421 |
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CFTR
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602421 |
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ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 7
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602421 |
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CFTR POLYMORPHISM
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602421 |
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CYSTIC FIBROSIS
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602421 |
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SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
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602421 |
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HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO
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602421 |
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PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO
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602421 |
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VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
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602421 |
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BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF
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602421 |
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CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR
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602421 |
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