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3 Achondroplasia
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21 Alpha-1-antitrypsin deficiency
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58 Autoimmune thrombocytopenia
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76 Brachycephalic airway obstruction syndrome
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80 Budd-chiari syndrome
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93 Central core myopathy
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103 Choanal atresia
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111 Ciliary dyskinesia, primary
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AR IW¥Ï¥¦¥ó¥É¡¢OE¥·¡¼¥×¥É¥Ã¥°¡¢E¥¹¥×¥ê¥ó¥¬¡¼¡¢¥Ë¥å¡¼¥Õ¥¡¥ó¡¢¥¹¥¿¥Ã¥Õ¥£¡¼
184 Dysautonomia
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236 Galactosialidosis
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261 Glycogen storage disease ­¶
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294 Hernia, diaphragmatic
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296 Hernia, hiatal
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316 Hyperekplexia (Startle disease)
¥°¥ê¥·¥ó¼õÍÆÂΤÎÊѰۤˤè¤ë²á¾ê¶Ãس¾É
ÉÔ°Õ¤ò¤Ä¤¯²»¤äÀÜ¿¨¤Ê¤É¤Ë¤è¤ë¶ÚáÛÚ»¡¢¶Ú¹Åľ¡¢Å¾ÅÝ¡¢¸ÆµÛº¤Æñ Gene: SLC6A5
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317 Hypereosinophilic syndrome
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367 Kartagener syndrome
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373 Laryngeal paralysis
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416 Mucopolysaccharidosis ­¶
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431 Muscular dystrophy, Duchenne typs
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437 Myasthenia gravis
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447 Myopathy, centronuclear
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448 Myopathy, congenital
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455 Myotonia
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471 Neuroaxonal dystrophy
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¦׿¾É¤äɨ¤Î秤¬Çö¤¤¤³¤È¤â¿ÇÃǤνõ¤±¤È¤Ê¤ë¡£ ¡¦À¸¸å3.5¥ö·î°ÊÁ°¤Ë¿À·Ð¼´º÷¥¸¥¹¥È¥í¥Õ¥£¡¼¤òȯ¾É¤·¤¿¥Ñ¥Ô¥è¥ó¤Îư²è¡¡http://www.pet-honpo.com/cap/sinkeikakuron/dai2kaipeji.html
AR G¥·¥å¥Ê¡¢¥Ñ¥Ô¥è¥ó¡¢¥í¥Ã¥È
487 Neuronal vacuolar disorder
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495 Niemann-Pick disease
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549 Pneumonia, aspiration
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550 Pneumothorax
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562 Polyneuropathy (LPN1)
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unknown ¥ì¥ª¥ó¡¢¥»¥ó¥È¥Ð¡¼¥Ê¡¼¥É
565 Polysaccharide storage myopathy/Rhabdomyolysis
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¤È¤¯¤Ë±¿Æ°³«»Ï¸å(ư¤­»Ï¤á)¤ÎÇØÃæ¤«¤é¸å»è¤Î¶ÚÆù¤Î¼ð¤ì¡¦Äˤߡ¦¤³¤ï¤Ð¤ê¡¢Êâ¹Ôº¤Æñ¡¢·ìÇ¢(¥ß¥ª¥°¥í¥Ó¥óÇ¢) ¶ÚÆùÆâ¤ËÅü¤¬ÃßÀѤµ¤ì¤ë¡£¿©ÍßÉÔ¿¶¡¢Ã¦¿å¡¢Ã¦ÎÏ´¶¡¢ÍÞ¤¦¤Ä¡¢¸ÆµÛº¤Æñ¡¢ÓÒÅǤòȼ¤¦½ÅÅ٤οÕÉÔÁ´¤ò°ú¤­µ¯¤³¤¹¤³¤È¤â¤¢¤ë¤¿¤á¿Õ¡É¤ȸí¿Ç¤µ¤ì¤ë¥±¡¼¥¹¤¬Â¿¤¤¤À¤í¤¦¡£²£Ìæ¶ÚÍ»²ò¾É¤Ï¥Ð¥Ù¥·¥¢¾É¤Î¹çÊ»¤È¤·¤Æ¤âµ¯¤³¤ë ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥°¥ì¥¤¥Ï¥¦¥ó¥É¡¢ÇÏ
586 Pulmonary adenomatosis
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587 Pulmonary fibrosis, idiopathic
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601 Respiratory distress syndrome
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674 Upper airway syndrome
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