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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.
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CDSP
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212140 |
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CUD
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212140 |
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SCD
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212140 |
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CARNITINE UPTAKE DEFECT
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212140 |
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SYSTEMIC CARNITINE DEFICIENCY
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212140 |
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CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF
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212140 |
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CARNITINE DEFICIENCY, PRIMARY
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212140 |
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CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
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212140 |
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CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE
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212140 |
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