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1 | What is (are) Potocki-Shaffer syndrome ? |
1 | What is (are) PPM-X syndrome ? |
1 | What is (are) Prader-Willi syndrome ? |
1 | What is (are) preeclampsia ? |
1 | What is (are) prekallikrein deficiency ? |
1 | What is (are) PRICKLE1-related progressive myoclonus epilepsy with ataxia ? |
1 | What is (are) primary carnitine deficiency ? |
1 | What is (are) primary ciliary dyskinesia ? |
1 | What is (are) primary hyperoxaluria ? |
1 | What is (are) primary macronodular adrenal hyperplasia ? |
1 | What is (are) primary myelofibrosis ? |
1 | What is (are) primary sclerosing cholangitis ? |
1 | What is (are) primary spontaneous pneumothorax ? |
1 | What is (are) prion disease ? |
1 | What is (are) progressive external ophthalmoplegia ? |
1 | What is (are) progressive familial heart block ? |
1 | What is (are) progressive familial intrahepatic cholestasis ? |
1 | What is (are) progressive osseous heteroplasia ? |
1 | What is (are) progressive pseudorheumatoid dysplasia ? |
1 | What is (are) progressive supranuclear palsy ? |
1 | What is (are) prolidase deficiency ? |
1 | What is (are) proopiomelanocortin deficiency ? |
1 | What is (are) propionic acidemia ? |
1 | What is (are) prostate cancer ? |
1 | What is (are) protein C deficiency ? |
1 | What is (are) protein S deficiency ? |
1 | What is (are) Proteus syndrome ? |
1 | What is (are) prothrombin deficiency ? |
1 | What is (are) prothrombin thrombophilia ? |
1 | What is (are) pseudoachondroplasia ? |
1 | What is (are) pseudocholinesterase deficiency ? |
1 | What is (are) pseudohypoaldosteronism type 1 ? |
1 | What is (are) pseudohypoaldosteronism type 2 ? |
1 | What is (are) pseudoxanthoma elasticum ? |
1 | What is (are) psoriatic arthritis ? |
1 | What is (are) pulmonary alveolar microlithiasis ? |
1 | What is (are) pulmonary arterial hypertension ? |
1 | What is (are) pulmonary veno-occlusive disease ? |
1 | What is (are) purine nucleoside phosphorylase deficiency ? |
1 | What is (are) pyridoxal 5'-phosphate-dependent epilepsy ? |
1 | What is (are) pyridoxine-dependent epilepsy ? |
1 | What is (are) pyruvate carboxylase deficiency ? |
1 | What is (are) pyruvate dehydrogenase deficiency ? |
1 | What is (are) pyruvate kinase deficiency ? |
1 | What is (are) Rabson-Mendenhall syndrome ? |
1 | What is (are) RAPADILINO syndrome ? |
1 | What is (are) rapid-onset dystonia parkinsonism ? |
1 | What is (are) recombinant 8 syndrome ? |
1 | What is (are) recurrent hydatidiform mole ? |
1 | What is (are) Refsum disease ? |
1 | What is (are) REN-related kidney disease ? |
1 | What is (are) renal coloboma syndrome ? |
1 | What is (are) renal hypouricemia ? |
1 | What is (are) renal tubular acidosis with deafness ? |
1 | What is (are) renal tubular dysgenesis ? |
1 | What is (are) Renpenning syndrome ? |
1 | What is (are) restless legs syndrome ? |
1 | What is (are) retinal arterial macroaneurysm with supravalvular pulmonic stenosis ? |
1 | What is (are) retinitis pigmentosa ? |
1 | What is (are) retinoblastoma ? |
1 | What is (are) retroperitoneal fibrosis ? |
1 | What is (are) Rett syndrome ? |
1 | What is (are) rheumatoid arthritis ? |
1 | What is (are) rhizomelic chondrodysplasia punctata ? |
1 | What is (are) ring chromosome 14 syndrome ? |
1 | What is (are) ring chromosome 20 syndrome ? |
1 | What is (are) rippling muscle disease ? |
1 | What is (are) Roberts syndrome ? |
1 | What is (are) Robinow syndrome ? |
1 | What is (are) Romano-Ward syndrome ? |
1 | What is (are) Rothmund-Thomson syndrome ? |
1 | What is (are) Rotor syndrome ? |
1 | What is (are) Rubinstein-Taybi syndrome ? |
1 | What is (are) Russell-Silver syndrome ? |
1 | What is (are) SADDAN ? |
1 | What is (are) Saethre-Chotzen syndrome ? |
1 | What is (are) Salih myopathy ? |
1 | What is (are) Sandhoff disease ? |
1 | What is (are) Schimke immuno-osseous dysplasia ? |
1 | What is (are) Schindler disease ? |
1 | What is (are) Schinzel-Giedion syndrome ? |
1 | What is (are) Schwartz-Jampel syndrome ? |
1 | What is (are) Senior-Lken syndrome ? |
1 | What is (are) sensorineural deafness and male infertility ? |
1 | What is (are) sepiapterin reductase deficiency ? |
1 | What is (are) septo-optic dysplasia ? |
1 | What is (are) severe congenital neutropenia ? |
1 | What is (are) Sheldon-Hall syndrome ? |
1 | What is (are) short QT syndrome ? |
1 | What is (are) short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ? |
1 | What is (are) short-chain acyl-CoA dehydrogenase deficiency ? |
1 | What is (are) Shprintzen-Goldberg syndrome ? |
1 | What is (are) Shwachman-Diamond syndrome ? |
1 | What is (are) sialic acid storage disease ? |
1 | What is (are) sialidosis ? |
1 | What is (are) sialuria ? |
1 | What is (are) sick sinus syndrome ? |
1 | What is (are) sickle cell disease ? |
1 | What is (are) Silver syndrome ? |
1 | What is (are) Simpson-Golabi-Behmel syndrome ? |
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