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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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Caused by mutation in the gene encoding the beaded filament structural protein 2 (BFSP2, 603212.0001)
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DISO:OMIM |
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Absent parotid papillae
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DISO:OMIM |
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Cortical cysts
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DISO:OMIM |
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Renal cortical cysts
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DISO:OMIM |
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Cortical cysts
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DISO:HPO |
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Venal cortical cysts
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DISO:HPO |
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Renal cortical cysts
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DISO:HPO |
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Patient receiving or eligible to receive foods, fluids or medication by mouth
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DISO:MTH |
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BREAST CANCER, INVASIVE, SUSCEPTIBILITY TO
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DISO:OMIM |
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Decreased coproporphyrinogen oxidase activity (HCP, lymphocytes, 50% of normal)
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DISO:OMIM |
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ECG shows flattened T waves
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DISO:OMIM |
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Patients do not have clinical hypothyroidism
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DISO:OMIM |
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Irregular, thin ribs
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DISO:OMIM |
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Subtelomeric deletion of long arm of chromosome 3 (3q29)
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DISO:OMIM |
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Death in teens secondary to cardiac failure
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DISO:OMIM |
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