181Primary Ciliary Dyskinesia (PCD) (先天性纖毛運動障礙症)
182Primary Hyperoxaluria Type 1 (PH1) (原發性高草酸尿症1型)
183Primary Immunodeficiency (PID) (原發性免疫缺陷病)
184Progressive Pseudorheumatoid Dysplasia (PPD) (進行性假性類風濕性骨發育不良症)
185Propionic Acidemia (丙酸血症)
186PTEN Hamartoma Tumor Syndrome (PHTS) (PTEN過誤腫症)
187Pulmonary Alveolar Proteinosis (PAP) (肺泡蛋白質沉著症)
188Pulmonary Hypertension (肺動脈高壓)
189Pyruvate Dehydrogenase Deficiency (丙酮酸鹽脫氫酵素缺乏症)
190Raynaud Phenomenon (雷諾氏現象)
191Relapsing Polychondritis (RP) (復發性多軟骨炎)
192Retinitis Pigmentosa (RP) (視網膜色素病變)
193Rett Syndrome (RTT) (雷特氏症)
194Rhabdomyosarcoma (RMS) (橫紋肌肉瘤)
195Rubinstein-Tabyi Syndrome (RTS) (Rubinstein-Taybi症候群)
196Russell-Silver Syndrome (RSS) (羅素-西弗氏症)
197Sacral Chordoma (骶骨脊索瘤)
198Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
199Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
200Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)