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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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Autosomal Recessive HIES
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DISO:MSH |
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Hyper Immunoglobulin E Syndrome, Autosomal Recessive
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DISO:MSH |
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Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
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DISO:MSH |
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Hyper IgE Syndrome, Autosomal Recessive
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DISO:MSH |
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Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive
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DISO:MSH |
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HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE
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DISO:OMIM |
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HIES, AUTOSOMAL RECESSIVE
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DISO:OMIM |
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HYPER-IgE SYNDROME, AUTOSOMAL RECESSIVE
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DISO:OMIM |
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Hyper-IgE Syndrome, Autosomal Recessive
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DISO:MSH |
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Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive
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DISO:MSH |
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HIES, Autosomal Recessive
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DISO:MSH |
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Left side involvement more frequent than right side involvement
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DISO:OMIM |
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Caused by mutation in the MMACHC gene (MMACHC gene 609831.0001)
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DISO:OMIM |
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No increase of muscle lactate with ischemic exercise testing
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DISO:OMIM |
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Abnormal toenails
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DISO:OMIM |
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