181Pulmonary Alveolar Proteinosis (PAP) (肺泡蛋白質沉著症)
182Pulmonary Hypertension (肺動脈高壓)
183Pyruvate Dehydrogenase Deficiency (丙酮酸鹽脫氫酵素缺乏症)
184Raynaud Phenomenon (雷諾氏現象)
185Relapsing Polychondritis (RP) (復發性多軟骨炎)
186Retinitis Pigmentosa (RP) (視網膜色素病變)
187Rett Syndrome (RTT) (雷特氏症)
188Rhabdomyosarcoma (RMS) (橫紋肌肉瘤)
189Rubinstein-Tabyi Syndrome (RTS) (Rubinstein-Taybi症候群)
190Russell-Silver Syndrome (RSS) (羅素-西弗氏症)
191Sacral Chordoma (骶骨脊索瘤)
192Schaaf-Yang Syndrome (SYS) (Schaaf-Yang症候群)
193Schinzel Giedion Syndrome (SGS) (Schinzel Giedion綜合症)
194Sciatic Nerve Tumors / Schwannoma (坐骨神腫瘤)
195SCN1A Syndrome (Genetic Disorder)
196SCN2A Syndrome (Genetic Disorder)
197SCN4A Myopathy (Genetic Disorder)
198SCN8A Syndrome (Genetic Disorder)
199Short Bowel Syndrome (短腸症)
200Sialidosis Type 1 (涎酸酵素缺乏症第1型)