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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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Fracture of one or more tarsal and metatarsal bones
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DISO:ICD9CM |
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Absent rod-and cone-mediated responses on ERG (late)
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DISO:OMIM |
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See also distal HMN2A (158590)
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DISO:OMIM |
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NPHP7
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DISO:OMIM |
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NEPHRONOPHTHISIS 7
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DISO:OMIM |
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NEPHRONOPHTHISIS 7
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DISO:MTH |
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Nephronophthisis 7
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DISO:MSH |
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NEPHRONOPHTHISIS 7
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DISO:OMIM |
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Caused by mutation in the nephrocystin 4 gene (NPHP4, 607215.0001)
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DISO:OMIM |
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Long chain hydroxy acyl dehydrogenase deficiency
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DISO:LNC |
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PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
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DISO:OMIM |
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GOUT, PRPS-RELATED
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DISO:OMIM |
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Phosphoribosylpyrophosphate Synthetase Superactivity
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DISO:MSH |
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Gout, PRPS-Related
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DISO:MSH |
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PRPS1 SUPERACTIVITY
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DISO:OMIM |
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