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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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Genetic heterogeneity, see PPNAD2 (610475)
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DISO:OMIM |
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V-shaped flaring of distal femoral metaphyses
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DISO:OMIM |
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Radial bowing, severe (adult)
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DISO:OMIM |
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Aberrant skin dimples (elbows and knees)
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DISO:OMIM |
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Proteinuria (rare)
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DISO:OMIM |
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Disorientation (HCP)
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DISO:OMIM |
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PTLS
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DISO:OMIM |
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POTOCKI-LUPSKI SYNDROME
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DISO:OMIM |
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Potocki-Lupski syndrome
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DISO:MSH |
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Potocki-Lupski syndrome (dup(17)(p11.2p11.2))
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DISO:MSH |
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Duplication 17p11.2 syndrome
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DISO:MSH |
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Chromosome 17p11.2 Duplication Syndrome
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DISO:MSH |
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CHROMOSOME 17p11.2 DUPLICATION SYNDROME
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DISO:OMIM |
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17p11.2 Duplication Syndrome
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DISO:NCI |
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Potocki-Lupski Syndrome
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DISO:NCI |
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