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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.
Osteopetrosis, Autosomal Recessive 4
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DISO:MTH |
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OSTEOPETROSIS, INFANTILE MALIGNANT 2
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DISO:OMIM |
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OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
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DISO:OMIM |
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Decreased CSF pyridoxal 5-prime-phosphate (PLP)
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DISO:OMIM |
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Mandibular and submandibular pain, episodic, triggered by eating and yawning
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DISO:OMIM |
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Rhizomelic arm shortening
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DISO:OMIM |
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Rhizomelic arm shortening
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DISO:HPO |
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MACULAR DEGENERATION, AGE-RELATED, 9
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DISO:OMIM |
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ARMD9
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DISO:OMIM |
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Macular Degeneration, Age-Related, 9
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DISO:MSH |
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Macular Degeneration, Age-Related, 9
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DISO:MTH |
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SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY
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DISO:OMIM |
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SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION
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DISO:OMIM |
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Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
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DISO:MSH |
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Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Due To Nhej1 Deficiency
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DISO:MSH |
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