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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.
MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS
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155100 |
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BLEEDING DISORDER, PLATELET-TYPE, 6
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155100 |
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MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS
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155100 |
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GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA
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155100 |
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MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
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155100 |
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SEBASTIAN PLATELET SYNDROME
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155100 |
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ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, FORMERLY
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155100 |
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