DISO2_YXZ Find_IDs Find_Terms Annotation
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created at 2017-12-21 11:07:44 UTC
updated at 2017-12-22 12:31:05 UTC
2 layers
520,470 entries
Label
Id
Hypertrophic cardiomyopathy (in a subset of patients) DISO:OMIM
AIS5 DISO:OMIM
Caused by mutations in the beta-glucuronidase gene (GUSB, 611499.0001) DISO:OMIM
Kallmann Syndrome 2 with Selective Tooth Agenesis DISO:MSH
Increased error rates of antisaccades (50%) DISO:OMIM
Caused by mutation in the nephrocystin 4 gene (NPHP4, 607215.0006) DISO:OMIM
Asymmetric facies while crying DISO:OMIM
Lacy iliac wings DISO:OMIM
Pectus excavatum (rare) DISO:OMIM
RETINITIS PIGMENTOSA 37 DISO:OMIM
RP37 DISO:OMIM
RETINITIS PIGMENTOSA 37 (disorder) DISO:MTH
Retinitis Pigmentosa 37 DISO:MSH
RETINITIS PIGMENTOSA 37 DISO:OMIM
RETINITIS PIGMENTOSA 37 DISO:OMIM