| Label | Id | |
|---|---|---|
| PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY | DISO:OMIM | |
| MRI shows decreased signal intensities in the basal ganglia | DISO:OMIM | |
| Obliterated tooth pulp cavities | DISO:OMIM | |
| Cataract, progressive, juvenile-onset (lamellar, cortical, nuclear embryonic, or Y-sutural) | DISO:OMIM | |
| NS5 | DISO:OMIM | |
| NOONAN SYNDROME 5 | DISO:OMIM | |
| Noonan Syndrome 5 | DISO:MSH | |
| Noonan Syndrome 5 | DISO:MTH | |
| NOONAN SYNDROME 5 | DISO:OMIM | |
| NOONAN SYNDROME 5 | DISO:OMIM | |
| CRCS2 | DISO:OMIM | |
| COLORECTAL CANCER, SUSCEPTIBILITY TO, 2 | DISO:OMIM | |
| COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 8q24 | DISO:OMIM | |
| ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | DISO:OMIM | |
| Isobutyryl-CoA dehydrogenase deficiency | DISO:LNC |