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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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NBS
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251260 |
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IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY
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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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SEEMANOVA SYNDROME II
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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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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 V1
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251260 |
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ATAXIA-TELANGIECTASIA VARIANT V2
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251260 |
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