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| created at |
2017-12-21 11:07:44 UTC |
| updated at |
2017-12-22 12:31:05 UTC |
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2 layers
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520,470 entries
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There is 0 pattern entry.
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SLEB9
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DISO:OMIM |
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SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9
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DISO:MTH |
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SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9
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DISO:OMIM |
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Caused by mutation in the leucine- and proline-enriched proteoglycan 1 gene (LEPRE1, 610339.0001)
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DISO:OMIM |
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Proximal lower limb involvement
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DISO:OMIM |
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Fine lamellar white opacities on slit lamp exam in carrier females
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DISO:OMIM |
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Increased serum methionine
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DISO:OMIM |
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Triangular shaped distal phalanges
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DISO:OMIM |
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Five clinical variants of MSUD unassociated with genotype
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DISO:OMIM |
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High prevalence among individuals of Middle Eastern or African descent
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DISO:OMIM |
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No cerebellar vermis aplasia/hypoplasia
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DISO:OMIM |
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Absent labia majora
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DISO:OMIM |
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Testicular Sertoli cell tumor, calcified
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DISO:OMIM |
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AUTISM, SUSCEPTIBILITY TO, 10
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DISO:OMIM |
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AUTS10
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DISO:OMIM |
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