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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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AT-V1
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251260 |
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AT-V2
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251260 |
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BBS
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251260 |
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MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES
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251260 |
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NBS
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251260 |
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IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY
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251260 |
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SEEMANOVA SYNDROME II
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251260 |
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NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE
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251260 |
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ATAXIA-TELANGIECTASIA VARIANT V1
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251260 |
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BERLIN BREAKAGE SYNDROME
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251260 |
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NIJMEGEN BREAKAGE SYNDROME
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251260 |
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ATAXIA-TELANGIECTASIA VARIANT V2
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251260 |
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