¸¤¼ïḚ̂äÅÁÀ¼À´µ(07ǯÅÙÅÐϿƬ¿ô½ç) | 1°Ì¥À¥Ã¥¯¥¹¥Õ¥ó¥È | 2°Ì¥Á¥ï¥ï | 3°Ì¥×¡¼¥É¥ë | 4°Ì¥è¡¼¥¯¥·¥ã¡¼¥Æ¥ê¥¢ | 5°Ì¥Ý¥á¥é¥Ë¥¢¥ó |
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38
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60 | 114 | 83 | 6 | 35 | 22 | 30 | 58 | 85 | 79 | 23 | 35 | 15 | 24 |
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·Á¼Á | ·ì´É¡¦·ì±Õ | Ǿ¿À·Ð | ¶Ú¹ü³Ê¡¦·ë¹çÁÈ¿¥ | ¸ÆµÛ´ï | ½Û´Ä´ï | ¾Ã²½´ï | ¿ÕǢϩ | ÀèÅ·´ñ·Á | ÆâʬÈ硦Âå¼Õ | ´ã¡¦¼ª¡¦É¡ | ¼ðáç | ÈéÉæ | ¥¢¥ì¥ë¥®¡¼¡¦Ì鱅 | ¤½¤Î¾ |
¸ÆµÛ´ï¡¡¡¡¡¡¡¡¡¡6 (28) |
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ÄÌÈÖ | ¼À ´µ ̾ | ¼ç ¤Ê ¾É ¾õ | È÷¡¡¡¡¡¡¡¡¡¡¹Í | °äÅÁ·ÁÂÖ | ¼ç¤Ê³ºÅö¸¤¼ï |
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3 |
Achondroplasia Æð¹ü̵·ÁÀ®¾É |
»Í»èû½Ì·¿¾®¿Í¾É¡¢Ã»¤¹¤®¤ë»Í»è¡£½Å¾ÉÎã¤Ï¿·À¸»Ò»àË´ | ɪ¡¦É¨¡¦¼êº¬¡¦Âº¬¤Î´ØÀá¼ðÂ礬¼ç¤Ê¾É¾õ¤Î¹üüÆð¹ü¤Î·ÁÀ®ÉÔÁ´¡¢¹üü¤ÎÀ®Ä¹¤Ï´Ë¤ä¤«¤ÇÁá´ü¤ËÄä»ß¤·Ä̾ï¤ÎÀ®¸¤¥µ¥¤¥º¤Ï¤½¤Î¸¤¼ï¤ÎÈ¾Ê¬ÄøÅÙ¡£¤½¤Î¾¤è¤¯¸½¤ì¤ë¾É¾õ¤È¤·¤ÆÍÏ·ìÀÉÏ·ì¡¢±¢âдݤäȯ¾ð°Û¾ï¤Ê¤É¤ÎÀ¸¿£¥È¥é¥Ö¥ë¡¦ÀÁ£µ¡Ç½Äã²¼¾É¡¢»ëÎϾ㳲¡¢°¤¤»õÎó¡¢µ¤´É»Ù³ÈÄ¥¾É¡¢´ØÀá¾ã³²¡¢Ìµ¸ÆµÛ¡¦Ã漪±êÅù¤ò´Þ¤à¸ÆµÛ´ï´ØÏ¢¤ÎÌäÂê¡¢¿åƬ¾É¡¢¹øÄǤζ¹ºõ¤Ë¤è¤ëÊâ¹Ôº¤Æñ¡¦ÇÓÝõ¾ã³²¡£¾É¾õ¤Î¸ÄÂκ¹¤¬¤ï¤ê¤ÈÂ礤¯Á´¿È¤ÎÊÑ·ÁÅٹ礤¤¬Â¿¤¤¤â¤Î¤ÏÁá´ü»àË´¤Î·¹¸þ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ð¥»¥Ã¥È¡¢¥À¥Ã¥¯¥¹¡¢¥×¡¼¥É¥ë¡¢¥Ô¥ì¡¢¥¹¥³¥Ã¥Á¡¢¥·¥§¥ë¥Æ¥£¡¢Ç¡¢¥¦¥µ¥®¡¢ÍÓ |
21 |
Alpha-1-antitrypsin deficiency ¥¢¥ë¥Õ¥¡1¥¢¥ó¥Á¥È¥ê¥×¥·¥ó·ç»¾É |
´Î¾ã³²¡¢¸ÆµÛº¤Æñ¡¢ÓÒÅÇ¡¦²¼Î¡¡¦Ê¢¿å¡¦²«áÕ¡¦½Ð·ì·¹¸þ | ´Î¹ÅÊѤäÌçÌ®°µÐ¶¿Ê¾É¤Ç¿¤¯¤ÏÀ®Ä¹´ü¤Ç»àË´¡£¥¿¥ó¥Ñ¥¯¼Á¤òʬ²ò¤¹¤ë¹ÚÁÇ¡Ê¥×¥í¥Æ¥¢¡¼¥¼¡Ë¤ÎºîÍѤòÍÞÀ©¤¹¤ë¥¢¥ë¥Õ¥¡1¡¾¥¢¥ó¥Á¥È¥ê¥×¥·¥ó¤Î·ç»¡£ÆÃ¤ËÇÙ¤ä´Î¡¤ÎÁÈ¿¥¤Ë¾ã³²¤¬À¸¤¸¡¢´Î¡¤¬¤³¤Î¹ÚÁǤòºÙ˦¤Î³°¤ËʬÈç¤Ç¤¤Ê¤¯¤Ê¤ê¹ÚÁǤ¬´ÎºÙ˦Æâ¤Ë¤¿¤Þ¤ê¡¢´ÎºÙ˦¤Î»½ý¤ò°ú¤µ¯¤³¤¹¡£ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | A¥³¥Ã¥«¡¼ |
58 |
Autoimmune thrombocytopenia ¼«¸ÊÌȱÖÀ·ì¾®Èĸº¾¯¾É |
·ì±Õ¶Å¸Ç¾ã³²¤«¤é¤Î̵µ¤ÎÏ¡¦¿©ÍßÉÔ¿¶¡¢ÈéÉæ¤äÇ´Ëì¤ÎÅÀ¾õ¡¦É½ºßÀ½Ð·ì¡¢¿´Çï¿ôÁý²Ã¡¦¤¢¤¨¤®¸ÆµÛ¡¢½Å¾ÉÎã¤Ï¼º·ì»à | ¼«Ê¬¤Î·ì¾®ÈĤËÂФ¹¤ë¹³·ì¾®ÈĹ³ÂΤ¬ºî¤é¤ì¤ë¤³¤È¤Ë¤è¤Ã¤Æ·ì¾®ÈÄ¿ô¤¬¸º¾¯¤¹¤ë(¼«Ê¬¤Î·ì¾®ÈĤò¹¶·â¤¹¤ë)¡£Ä̾ïÇò·ìµå¿ô¤ÈÀÖ·ìµå¿ô¤ÏÀµ¾ï¤Ç¹ü¿ñ¤Ç¤Ï·ì¾®ÈĤÎÁ°¶îºÙ˦¤Îµð³Ëµå¤¬Áý²Ã¤·¤Æ¤¤¤ë¡£¥á¥¹¤Ï¥ª¥¹¤Î3¡Á4ÇÜ¤ÎØí´µÎ¨ | unknown | ¿ |
76 |
Brachycephalic airway obstruction syndrome ûƬ¼ïµ¤Æ»Êĺɾɸõ·² |
¤¤¤Ó¤¡¢Â©¤òµÛ¤¦»þ¤Ë²»¤¬½Ð¤ë¡¢³±¡¢·ì±ÕÃæ¤Î»ÀÁÇÇ»ÅÙ¤¬Ä㤤¤¿¤á¹â·ì°µ | ÊÌ̾¡¦¾åµ¤Æ»Êĺɾɸõ·²¡£É¡¹¦¶¹ºõ¾É¡¦Æð¸ý³¸²áĹ¾É¡¦¹¢Æ¬µõ桦µ¤´ÉÄã·ÁÀ®¤Ê¤É¤Ë¤è¤ë¾åµ¤Æ»¤ÎÊĺɡ£µ¤Æ»Êĺɾɸõ·²¤ò»ý¤Ã¤¿¸¤¤Î¤Û¤È¤ó¤É¤ËÆð¸ý³¸²áŤäÉ¡¹¦¶¹ºõ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ûƬ¼ï |
80 |
Budd-chiari syndrome ¥Ð¥Ã¥É¡¦¥¥¢¥ê¾É¸õ·² |
¶¯¤¤Ê¢ÄË¡¦Ê¢ÉôËÄËþ¡¦Ê¢Éô¤ÎÀÅÌ®¤¬É⤽Ф롢¿°û¡¢¹â·ì°µ¡¢³±¡¢¸ÆµÛº¤Æñ¡¢Â®Ì®¡¢¼º¿À¡¢´Î¼À´µ | ´ÎÀÅÌ®¤¢¤ë¤¤¤Ï´ÎÉô²¼ÂçÀÅÌ®¤ÎÊĺɤʤ¤¤·¶¹ºõ¤Ë¤è¤ë¼À´µ¤ÇÀ¸¸å¿ôÆü¤«¤é¿ô¥ö·î¤Ç´ÎÉÔÁ´¤â¿¤¤¡¢4ºÐÁ°¤Þ¤Ç¤Ë¤Ïȯ¾É¤¹¤ë | unknown | ¥¥ã¥Ð¥ê¥¢ |
93 |
Central core myopathy ¥»¥ó¥È¥é¥ë¥³¥¢É |
Áá´ü¤«¤é¶Ú¶ÛÄ¥Äã²¼¡¢¶ÚÎÏÄã²¼¡¢¸ÆµÛ¶Ú¡¦´éÌ̶ڡ¦·Û¶Ú¤¬¼å¤¤¡¢¿Ê¹Ô¤ÎÃÙ¤¤±¿Æ°È¯Ã£¤ÎÃ٤졢´ØÀá¹´½Ì | ÀèÅ·ÀÈó¿Ê¹ÔÀ¶Ú¼À´µ¤Î°ì¼ï¤Ç8¥ö·îº¢¤Þ¤Ç¤Ë¤Ï¾É¾õ¤¬½Ð¤ë¤³¤È¤¬Â¿¤¯Áá´ü»àË´ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥°¥ì¡¼¥È¥Ç¥ó |
103 |
Choanal atresia ¸åÉ¡¹¦Êĺ¿¾É |
¸ÆµÛ¤¬¤·¤Ë¤¯¤¤¡¢¥ß¥ë¥¯¤òÅǤ¯¤Ê¤É | ¸åÉ¡¹¦(2¤Ä¤ÎÉ¡¤Î·ê¤ÏÄ̾±ü¤ÎÊý¤Ç1¤Ä¤Ë¤Ê¤ê°ö¤Ë·Ò¤¬¤Ã¤Æ¤¤¤ë)¤¬Êĺ¿¤µ¤ì¤Æ¤¤¤ë¾õÂÖ¡£(É¡¤«¤éºÙ¤¤´É¤òÆþ¤ì¤Æ°ö¤ËÄ̤¸¤ë¤«¤ß¤ë) | unknown | * |
111 |
Ciliary dyskinesia, primary ¸¶È¯ÀÁ¡ÌÓ±¿Æ°¾ã³²¡¢Á¡ÌÓÉÔÆ°¾É |
ξ¦ÀËýÀŪ¤ÊÉ¡½Á¡¢¼¾¤Ã¤¿³±¡¢ÇÙ±ê |
Á¡ÌÓ¥¸¥¹¥¥Í¥¸¥¢¡£Priamry Ciliary Dyskinesia(PCD)¤È¤â¸Æ¤ÖÊÌ̾¥¢¥¤¥ê¥Ã¥·¥å¥¦¥ë¥Õ¥Ï¥¦¥ó¥É¤ÎÉ¡±ê ½ÐÀ¸»þ¤«¤éÃû¸õ¤¬¤¢¤ë¤¬¸ÄÂκ¹¤¬Â礤¤¡£À¸¤Þ¤ì¤¿¤Æ¤Çǿɡ½Á¤¬¸«¤é¤ì¤ë»Ò¸¤¤ÏÁá´ü»àË´¡£°ÊÁ°¤Ï¥¦¥¤¥ë¥¹´¶À÷¤È¸À¤ï¤ì¤Æ¤¤¤¿¡£µ¤´É»Ù³ÈÄ¥¾É¡¢ÉûÉ¡¹Ð±ê¡¢Æâ¡ȿž¤ò»°Âç¼çħ¤È¤¹¤ë¥«¥ë¥¿¥²¥Ê¡¼¾É¸õ·²»²¾È(Æâ¡¤Î°ÌÃ֤˰۾ï¤Î¤Ê¤¤Á¡ÌӤξ㳲¤Î¤è¤¦¤À) |
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 ¼«Î§¿À·Ð°Û¾ï¾É(¼ºÄ´¾É) |
* | Âå¼Õ¡¢¾Ã²½¤Ê¤É¤ÎÀ¸Ì¿³èư¤ò³èȯ¤Ë¤¹¤ëƯ¤¤ò¤¹¤ë¸ò´¶¿À·Ð¤È¡¢¸ò´¶¿À·Ð¤È¤ÏÁ´¤¯µÕ¤ÎƯ¤¤ò¤¹¤ëÉû¸ò´¶¿À·Ð¤Î2¤Ä¤«¤éÀ®¤êΩ¤Ä¼«Î§¿À·Ð¤Î¥Ð¥é¥ó¥¹¤¬Êø¤ì¤¿¾ì¹ç¤Ëµ¯¤³¤ëɵ¤¡£ ¼«Î§¿À·Ð¤È¤Ï¸ÆµÛ¤äÂå¼Õ¡¢¾Ã²½¡¢½Û´Ä¤Ê¤É¼«Ê¬¤Î°Õ»×¤È¤Ï̵´Ø·¸¤ÇÀ¸Ì¿³èư¤Î°Ý»ý¤ä¤½¤ÎÄ´Àá¤ò¹Ô¤¤¡¢À䤨¤º³èư¤·¤Æ¤¤¤ë·ì´É¡¢¥ê¥ó¥ÑÁ£¡¢Æâ¡¤Ê¤É¼«Ê¬¤Î°Õ»×¤È¤Ï̵´Ø·¸¤ËƯ¤¯ÁÈ¿¥¤ËʬÉÛ¤¹¤ë¿À·Ð·Ï¡£ | unknown | * |
236 |
Galactosialidosis ¥¬¥é¥¯¥È¥·¥¢¥ê¥É¡¼¥·¥¹ |
¹ü¤ÎÊÑ·Á¡¢´Î¡¤äç£Â¡¤Î¼ðÂç¡¢Áͷ¥إë¥Ë¥¢¡¢çÁ¥Ø¥ë¥Ë¥¢¡¢¿´ÉÔÁ´¡¢¿ÕÉÔÁ´¡¢¸ÆµÛ¾ã³²¤äÃæ¿õ¿À·Ð¾ã³²(¥ß¥ª¥¯¥í¡¼¥Ì¥¹¡¢¤±¤¤¤ì¤óȯºî) | ¥é¥¤¥½¥¾¡¼¥àÀÊݸîÃÁÇò¼Á/¥«¥Æ¥×¥·¥óA¡ÊPPCA¡Ë¤Î³èÀÄã²¼¤Ë¤è¤êÈó´Ô¸µËöü¤Ë¥·¥¢¥ë»À»Ä´ð¤ò»ý¤Ä¥ª¥ê¥´Åü¤äÅüÃÁÇò¼Á¤ª¤è¤ÓÅü»é¼Á¤¬Ê¬²ò¤µ¤ì¤º¤ËºÙ˦Æâ¤ËÃßÀѤ·¤ÆºÙ˦¤¬¾ã³²¤ò¼õ¤±¤ë¡£¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹¤È¾É¾õ¤¬»÷¤ë¤¬¤³¤Á¤é¤Ï¤ä¤ä·Ú¤¤ | unknown | * |
261 |
Glycogen storage disease ¶ Åü¸¶É¶·¿ |
½é´ü¤ÏÉÔ̲¤È±¿Æ°»þ¤Î¸ÆµÛº¤Æñ¤ò´Þ¤à¶ÚÎÏÄã²¼¡¢´Î¡¦¿´¼ðÂç¡¢¿´ÉÔÁ´¤ÇÁá´ü»àË´ | ¥Ý¥ó¥ÚÉÂ(¥Ý¥ó¥Ú¤Ïȯ¸«¤·¤¿¥ª¥é¥ó¥À¤Î°å»Õ¤Î̾)¡£»ÀÀ¥Þ¥ë¥¿¡¼¥¼(a-¥°¥ë¥³¥·¥¿¡¼¥¼¤È¤â¸À¤¦)·ç»¤Ë¤è¤ë¥°¥ê¥³¡¼¥²¥óÃßÀÑ¾É | ¾ïÀ÷¿§ÂÎÀ¡¢Ã±°ì°äÅÁ»Ò | * |
294 |
Hernia, diaphragmatic ²£³ÖËì¥Ø¥ë¥Ë¥¢ |
¸ÆµÛº¤Æñ¡¢ÓÒÅÇ¡¢¥·¥ç¥Ã¥¯¡£¿·À¸»ù¤Ç¤Ï¶»¤¬Â礤¯¤Õ¤¯¤é¤ßÊ¢¤Ï¤Ø¤³¤ó¤Ç¤ª¤ê¿©ÍßÉÔ¿¶¤ÎËöÁá´ü»à˴Ψ¤¬¹â¤¤(»ºÀ¼¤ò¤¢¤²¤¿¤È¤¿¤ó¤Ë¸«¤ë¸«¤ë¼å¤ë¤³¤È¤â)¡£ |
ÂÎÆâ¤Ç¶»¤ÈÊ¢¤òʬ¤±¡¢¸ÆµÛ¤ò¤¹¤ë¤¿¤á¤Î½ÅÍפʲ£³ÖËì¤Ë¤Ï¤â¤È¤â¤È¿ô²Õ½ê¤Ë·ê¤¬³«¤¤¤Æ¿©Æ»¤ä·ì´É¤òÄ̤·¤Æ¤¤¤ë¤¬¤½¤Î·ê¤¬Àµ¾ï¤è¤êÂ礤«¤Ã¤¿¤êµµÎö¤¬Æþ¤ê¤¹¤®¤Æ¤¤¤ë¤è¤¦¤Ê¾õÂÖ¤ò¤¤¤¦¡£·ÚÅ٤Ǥ¢¤ì¤Ð¤È¤¯¤Ë¤Ò¤É¤¯¤Ê¤é¤º°ìÀ¸¤ò½ª¤¨¤ë¥±¡¼¥¹¤â¿¤¤¤È¹Í¤¨¤é¤ì¤ë¡£¼ç¤Ë²£³ÖË줫¤é°ß¤Ê¤É¤¬¶»Éô¤Ë½Ð¤Æ¤·¤Þ¤¤¸ÆµÛ¤¬Ë¸¤²¤é¤ì¤ë¤³¤È¤¬Ì¿¤òÃ¥¤¦¡£ ÀèŷŪ¤Ë²£³ÖËì¥Ø¥ë¥Ë¥¢¤ò»ý¤Ã¤Æ¤¤¤Æ¡¢¤ï¤ê¤¢¤¤Àµ¾ï¤ËÀ®Ä¹¤·¤Æ¤«¤é¶»Éô¤ÎÂÇËФʤɤÇȯ¾É¤¹¤ë¥±¡¼¥¹¤â¤¢¤ë(¸åÅ·À¤Ç¤Ï¤Ê¤¯ÃÙȯÀ)¡£ |
unknown | ¥´¥ë |
296 | Hernia, hiatal Îö¹¦¥Ø¥ë¥Ë¥¢ |
¿©¸å¤ÎÓÒÅÇ¡¦µÕή¡¢¸ÆµÛº¤Æñ | ²¼Éô¿©Æ»³çÌó¶Ú¤Î¾ã³²¡£¿Í´Ö¤Ç¤Ï²£³ÖËì¥Ø¥ë¥Ë¥¢¡á»Ò¤É¤â(»Ò¸¤)¡¢Îö¹¦¥Ø¥ë¥Ë¥¢¡áÂç¿Í(À®¸¤)¤È¸Æ¤ó¤Ç¤¤¤ë¡£¼£ÎŤϳ°²Ê¼ê½Ñ¤ÇÎö¹¦¤ÎÊĺ¿¤È°ßÊ¢ÊɸÇÄê | unknown | E¥Ö¥ë |
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 ²á¾ê¶Ãس¾É¡£Â¯¤Ë¤Ó¤Ã¤¯¤êÉ¡£ÍÞÀ©À¿À·ÐÅÁã¤Ë´ØÍ¿¤¹¤ë¥°¥ê¥·¥ó¤Î¼õÍÆÂΤäÍ¢Á÷ÂΤΰäÅÁ»ÒÊѰۤˤè¤ê¥°¥ê¥·¥óºîưÀÍÞÀ©¿À·Ð¤ÎÄã²¼¤«¤é¥·¥Ê¥×¥¹ÅÁ㤬¾ã³²¤µ¤ì¤ë |
AR | I¥¦¥ë¥Õ¥Ï¥¦¥ó¥É¡¢¥é¥Ö |
317 |
Hypereosinophilic syndrome ¹¥»ÀµåÁý²Ã(¿)¾É¸õ·² |
Á´¿È¤Îȯ¿¾¤äáڤߡ¢ÉÏ·ì¡¢²¼Î¡¡¢Ê¢ÉôáÛÚ»¡¢ÂνŸº¾¯¡¢±Ê³Ū¤Ê³± | Èé²¼¤Î¤·¤³¤ê¡¢¾Ã²½´É¡¢¹ü¿ñ¡¢ç£Â¡¡¢¥ê¥ó¥ÑÀá¡¢ÇÙ¤ä´Î¡¤Ê¤É¤Î¡´ï¤ò¼è¤ê°Ï¤àÁÈ¿¥¤ÎÈî¸ü¡¢¸ÆµÛº¤Æñ¡¢¶»¿å¡¦ÉÔÀ°Ì®¡¦ÁÎ˹Êۤ仰ÀíÊÛµÕή¤ò´Þ¤à¿´Â¡¥È¥é¥Ö¥ë¡¢³Æ¼ï¡´ïÉÔÁ´¤Ê¤É¤â¾É¾õ¤ÎÎ㤬¤¢¤ë¡£Ëö¾¿·ìÃæ¤Î¹¥»Àµå¤¬°Û¾ï¤Ë¿¤¤¾õÂ֤ǡ¢´óÀ¸Ãî´¶À÷¤ä¥¢¥ì¥ë¥®¡¼È¿±þ¡¢¥¢¥È¥Ô¡¼À¼À´µ¤Çµ¯¤³¤ë¤³¤È¤â¤¢¤ë(¹¥»Àµå¤ò¸º¤é¤¹°ø»Ò¤Î¤Ò¤È¤Ä¤Ë¤Ï¥¹¥È¥ì¥¹¤¬¤¢¤ë)¡£Áý²Ã¾õÂÖ¤¬Ä¹°ú¤¯¤ÈÆÃȯÀ¹¥»ÀµåÁý²Ã¾É¸õ·²¤È¿Ê¤ß¿´Â¡¡¢ÇÙ¡¢ç£Â¡¡¢¤ª¤è¤Ó¿À·Ð·Ï¤Ê¤É¤¢¤é¤æ¤ë¡´ï¤¬¿¯¤µ¤ìͽ¸åÉÔÎÉ | unknown | * |
367 |
Kartagener syndrome ¥«¥ë¥¿¥²¥Ê¡¼¾É¸õ·² |
»Ò¸¤¤Îº¢¤«¤éµ¤´É»Ù±ê¡¦É¡±ê¡¦Çٱꡢ¼ªÉ¡´¶À÷¡¦¸ÆµÛ´ï´¶À÷¤ò·«¤êÊÖ¤¹ | Á´Æâ¡µÕ°Ì¡¦ÉûÉ¡¹Ð±ê¡¦µ¤´É»Ù³ÈÄ¥¤òȼ¤¦°äÅÁÀ¼À´µ¡£¢¨¸¶È¯ÀÀþÌÓ¥¸¥¹¥¥Í¥¸¥¢ | AR | ¥À¥Ã¥¯¥¹¡¢E¥¹¥×¡¢E¥³¥Ã¥«¡¼¡¢¥¹¥¿¥Ã¥Õ¥£¡¼¡¢¥Á¥ã¥¦ |
373 |
Laryngeal paralysis ¹¢Æ¬Ëãáã |
±¿Æ°ÉÔÂÑÀ¡¢µÛµ¤ÀÓÃÌÄ¡¢µÛµ¤¸ÆµÛº¤Æñ¡¢ÅǤµ¤¡¢³±¡¢È¯À¼¾ã³² | ¼£ÎŤϼç¤Ë¹¢Æ¬ÊĺɤδËÏÂ(ÂоÉÎÅË¡)¡£¾ïÀ÷¿§ÂÎÍ¥À°äÅÁ¤¬ÃΤé¤ì¤Æ¤¤¤ë¡£°ìÈÌŪ¤Ë»þ´Ö¤Î·Ð²á¤È¶¦¤Ë°²½¤¹¤ë | unknown | ¥í¥Ã¥È¡¢¥é¥Ö¡¢¥¢¥Õ¥¬¥ó¡¢I¥»¥Ã¥¿¡¼¡¢¥Ï¥¹¥¡¼ |
416 |
Mucopolysaccharidosis ¶ ¥à¥³Â¿Åü¾É¶·¿ |
Àå¤ÎÈîÂç¡¢Áû²»¸ÆµÛ¡¢µ¤Æ»´¶À÷¡¢´Î磼𡢹üÊѲ½¡¢¤Ä¤Þ¤Å¤¡¢»Í»è¤ò¸ØÄ¥¤¹¤ë¤è¤¦¤ÊÊâ¤Êý¡¢³ÑË캮Âù¡¢´ØÀá¤Î²ÄưÀÄã²¼(¤¹¤Ù¤Æ¿Ê¹ÔÀ) | iduronate-2-sulfatase·ç»¤Ë¤è¤ë¥Ø¥Ñ¥é¥óβ»À¤È¥Ç¥ë¥Þ¥¿¥óβ»À¤ÎÃßÀÑ¡£Ç¢Ãæ¤Ë¥à¥³Â¿Åü¤Ç¤¢¤ë¥Ç¥ë¥Þ¥¿¥óβ»À¡¢¥Ø¥Ñ¥é¥óβ»À¤¬Â¿Î̤ËÇÓÝõ¤µ¤ì¤ë¡£¥Ï¥ó¥¿¡¼¾É¸õ·²Hunter syndrome | x-linked | * |
431 |
Muscular dystrophy, Duchenne typs ¥Ç¥å¥·¥§¥ó¥Ì·¿¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼ |
¶á°Ì¶Ú¤«¤é¤Î¶ÚÎÏÄã²¼¡¢¸ÆµÛº¤Æñ¤Ë¤è¤ë»àË´ |
Genes: DMD ¶ÚÀþ°Ý¤ÎÊÑÀ¤Ë¤è¤Ã¤Æµ¯¤³¤ë¶á°ÌÉô¤Î¿Ê¹ÔÀ¤Î¶ÚÎÏÄã²¼¤òÆÃħ¤È¤¹¤ëXÏ¢º¿ÎôÀ°äÅÁÀ¼À´µ¡£¥Ù¥Ã¥«¡¼·¿¤Ïȯ¾É¤¬ÃÙ¤¯¾É¾õ¤Ï·ÚÅÙ |
XR | * |
437 |
Myasthenia gravis ½Å¾É¶Ú̵ÎÏ¾É |
´ãâÛ²¼¿â¡¢°×ÈèÏ«¡¢Á´¿È¤Î¶ÚÎÏÄã²¼¡¢µðÂç¿©Æ»¤äÓë²¼¾ã³²¤ò¹çÊ»¤¹¤ë¤³¤È¤â¤¢¤ë | ¾É¾õ¤¬½Ð¤ëÉô°Ì¤Ë¤è¤Ã¤Æ¡¢Ìܤʤé½Ö¤¤¬Áý¤¨¤¿¤êâÛ¤¬²¼¤¬¤ê¡¢¸ý¤Ê¤é¤è¤À¤ì¤¬¤¤¤Ä¤âή¤ì¤¿¤ê°û¿©°û¿å¤Ç¤à¤»¤¿¤ê°û¤ß¹þ¤ß¤Ë¤¯¤½¤¦¤Ë¤Ê¤ê¡¢»Í»è¤Ê¤éÊâ¹Ô¤¬º¤Æñ¤Ë¤Ê¤ê¡¢¸ÆµÛ¶Ú¤Ê¤é¸ÆµÛ¤Ë»Ù¾ã¤¬½Ð¤ë¡£ ¿´¼À´µ¤äµðÂç¿©Æ»¾É¤ä¥ê¥ó¥Ñ¼ð¤Ê¤É¾¤Îɵ¤¤¬Ê»È¯¤·¤Æ¤¤¤ë¥±¡¼¥¹¤â¿¤¤¡£¸¦µæÎã¿¿ô | ¾ïÀ÷¿§ÂÎÀ¡¢Ã±°ì°äÅÁ»Ò | MS¥À¥Ã¥¯¥¹¡¢¥´¥ë¡¢¥Ë¥å¡¼¥Õ¥¡¥ó¡¢¥³¡¼¥®¡¼¡¢¥°¥ì¡¼¥È¥Ç¥ó¡¢ |
447 |
Myopathy, centronuclear Ãæ¿´³Ë¥ß¥ª¥Ñ¥Á¡¼ |
¶ÚÎÏ¡¦¶Ú¶ÛÄ¥Äã²¼¡¢¸ÆµÛº¤Æñ¡£ |
Genes: PTPLA ÀèÅ·À¥ß¥ª¥Ñ¥Á¡¼¤Î¤Ò¤È¤Ä¡£Ä̾ï¤ÏÀ¸¤Þ¤ì¤Æ¤¹¤°¤«¤é°ÛÊѤ¬Ç§¤á¤é¤ì¤ë¤¬°ìÈ̤˿ʹԤ¬´Ë¤ä¤«¤Ê¤¿¤áñ¤Ë¤ª¤È¤Ê¤·¤¤¸¤¤È¤µ¤ì¤Æ¤¤¤ë²ÄǽÀ¤Ï¹â¤¤¡£ Centro Nuclear Myopathy (CNM)¢ªVetGen¤½¤Î¾¤ÇDNA¸¡ºº¤¢¤êÂоݸ¤¼ï;L¥ì¥È¥ê¡¼¥Ð¡¼ |
AR | * |
448 |
Myopathy, congenital ÀèÅ·À¥ß¥ª¥Ñ¥Á¡¼ |
À¸¤Þ¤ì¤Ä¤¶ÚÎϤÎÄã²¼¤È¶Ú¶ÛÄ¥¤ÎÄã²¼¤¬¸«¤é¤ì¤ë¡£ |
³¬Ãʾº¹ß¤Ï¤Ç¤¤ëor¤Ç¤¤Ê¤¤¡¢Ê⤱¤Æ¤âÁö¤ì¤Ê¤¤¤Ê¤É¾É¾õ¤ÏÍÍ¡¹¤À¤¬¶¦Ä̤¹¤ë¤È»×¤ï¤ì¤ë¤â¤Î¤Ë¶ÚÆù¤ÎÁ餻¡¢Óë²¼¾ã³²¤ä¸ÆµÛµ¡Ç½¤Î¾ã³²¤¬¤¢¤ë¡£¤½¤Î¾¤è¤¯¸«¤é¤ì¤ë¹çÊ»¾É¤ÏϳÅͶ»¤Ê¤É¹ü³Ê¤ÎÊÑ·Á¡¢°À¹âÇ®¡¢¹â¸ý³¸¡¢¿´´ñ·Á¤ò´Þ¤à½Û´Ä´ï¼À´µ ÀèÅ·À¥ß¥ª¥Ñ¥Á¡¼¤ä¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼¤Ï°À¹âÇ®¾É¤È·¸¤ï¤ê¤¬¤ë¤è¤¦¤À(¥Ò¥È¤Î¿ÇÃǤ϶ÚÀ¸¸¡¤Ë¤Ê¤ë¤é¤·¤¤) |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
455 |
Myotonia ¶Ú¶ÛÄ¥¾É¡¢¥ß¥ª¥È¥Ë¥¢ |
¤®¤³¤Á¤Ê¤¤Â¼è¤ê¡¢Â¿Î̤Îή޷(»Ò¸¤»þÂå)¡¢¹ü³Ê¶ÚÈîÂç¡¢Óë²¼¡¦¸ÆµÛ¾ã³²¡¢³ÜÁ°ÆÍ¾É |
Genes:CLCN1 »Ò¸¤¤Îº¢¤«¤éȯ¾É¡£²¼Î¡¤äÓÒÅǤòȼ¤¦¡£¶ÚÆù¤¬¤³¤ï¤Ð¤ê¡¢¶Ú¼ý½Ì¤¬Ä¹¤¯Â³¤´¨¤µ¤ä¶½Ê³¤Ç°²½¤¹¤ë |
AR | ¥Ç¥ó¡¢M¥·¥å¥Ê¡¢¥Á¥ã¥¦¥Á¥ã¥¦¡¢¥¹¥¿¥Ã¥Õ¥£¡¼¡¢A¥¥ã¥È¥ë¥É¥Ã¥° |
471 |
Neuroaxonal dystrophy ¿À·Ð¼´ºö¥¸¥¹¥È¥í¥Õ¥£¡¼ |
½ÅÅ٤α¿Æ°¼ºÄ´¡¢½ÐÀ¸»þ¤Î´ØÀá¹´½Ì¡¦¾®Ç¾¤ÈÀÔ¿ñ¤Î·ÁÀ®ÉÔÁ´¡¦ÇÙ¤âÄã·ÁÀ®¤Ê¤¿¤á¸ÆµÛÉÔÁ´¤Ë¤è¤ë»à»º¡¦¿·À¸»ù»àË´(ÂÛÆ°¤â¾¯¤Ê¤¤)¡£Æ¬Éô¤Î¿ÌÀï¡¢»ëÎϾ㳲¡¢¤Æ¤ó¤«¤ó(¥ß¥ª¥¯¥í¡¼¥Ì¥¹) |
Gene: MFN2 ¦׿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 ¿À·Ð±Õ˦¾ã³² |
½ÅÅÙ¤Îìì¹Ô¡¢Á´¿È¿ê¼å¡¢¶ÚÆù¤Î¤±¤¤¤ì¤ó¡¢Óë²¼¾ã³²(¿©¤Ù¤¿¤ê°û¤ó¤À¤ê¤¬²¼¼ê)¡¢¸ÆµÛº¤Æñ |
¿À·ÐÁÈ¿¥¤Ë¶õ˦¤¬·ÁÀ®¤µ¤ì¤ë¤³¤È¤ÇÀ¸¸å6½µ¤Ë¤ÏºÇ½é¤ÎÃû¸õ¤¬¸½¤ì¤ë¡£6½µ¤Ç¤Ïư¤¤¬Á᤯¤Ê¤Ã¤¿¤êÃÙ¤¯¤Ê¤Ã¤¿¤ê¤Þ¤È¤Þ¤ê¤Î¤Ê¤¤¹Ôư¡¢7¡Á8½µ¤Ç¤Ï»Í»è(¤È¤¯¤Ë¸å»è)¤Î¼å¤µ¡¦Á´¿È¤Î¿ê¼å¡¢¤®¤³¤Á¤Ê¤¤³¬Ãʾº¹ß¡£µðÂç¿©Æ»¤ò¹çÊ»¤¹¤ë¤³¤È¤â¤¢¤ë
ÅìµþÂç³ØÂç³Ø±¡ÇÀ³ØÀ¸Ì¿²Ê³Ø¸¦µæ²Ê½Ã°å³Ø¡¦±þÍÑÆ°Êª²Ê³ØÀì¹¶¥Û¡¼¥à¥Ú¡¼¥¸¤µ¤Þ¡Ö»º¶Èưʪ¤Î¿À·Ð·Ï¼À´µ¤ÎÉÂÍý¡Á³¤³°¾ÉÎã¤òÃæ¿´¤Ë¡Á¡× |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥í¥Ã¥È |
495 |
Niemann-Pick disease ¥Ë¡¼¥Þ¥ó¥Ô¥Ã¥¯É |
¿·À¸»ù´ü;ÂÛ»ùÊ¢¿å¡¢´Î磼𡢴ÎÉÔÁ´¤ä¸ÆµÛº¤Æñ¤Ç»àË´¡£ Íĸ¤´ü;¥Ê¥Ã¥¯¥ê¥ó¥°¡¢¥Ð¥é¥ó¥¹ÁÓ¼º¡¢Ãæ¿õ¿À·Ð¾É¾õ¡¢´Î磼ð¡¢áÛÚ» |
¥é¥¤¥½¥¾¡¼¥à¼À´µ¡¢»é¼ÁÂå¼Õ°Û¾ï¾É¡£»ÀÀ¥¹¥Õ¥£¥ó¥´¥ß¥¨¥ê¥Ê¡¼¥¼·ç»¤Ë¤è¤ë°äÅÁÀ¤ÎºÙ˦Æâ»é¼ÁÃßÀÑ¾É | AR | * |
549 |
Pneumonia, aspiration ¸íÓëÀÇÙ±ê |
¡ö | ¡ö | unknown | I¥¦¥ë¥Õ¥Ï¥¦¥ó¥É |
550 |
Pneumothorax µ¤¶» |
¶»Éô¤ÎÄˤߡ¢Â©¤òµÛ¤¤¤Ë¤¯¤¤¤¿¤á¸ý¤òÂ礤¯³«¤±¤ë¡¢¸ÆµÛº¤Æñ¡¢¶»¤Î°Û¾ï¤Ê¤Õ¤¯¤é¤ß(¸ÆµÛ²»¤Ê¤·) | ³°½ý̵¤¯¶»¹ÐÆâ¤Ëµ¤ÂÎÃùα¤¹¤ëÇ٤γÈÄ¥¾ã³²¡¢µ¤¼ðÀÇÙǹ˦¤ä¼ðáç¤ò»ý¤Ã¤Æ¤¤¤ë¤³¤È¤â¿¤¤ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ï¥¹¥¡¼¡¢¥é¥Ö |
562 |
Polyneuropathy (LPN1) ¿ȯÀ¿À·Ð±ê¡¢Â¿È¯À¥Ë¥å¡¼¥í¥Ñ¥Á¡¼ |
Êâ¹Ô°Û¾ï¡¢¶ÚÆù¡¦¹üÈס¦»Í»è¤Î°Ñ½Ì |
Genes: NDRG1 ¥·¥ã¥ë¥³¡¼¡¦¥Þ¥ê¡¼¡¦¥È¥¥¡¼¥¹É¡£±¿Æ°ÉÔÂÑÀ¡¢Êâ¹Ô°Û¾ï¡¢¹üÈס¦¼êÂ¤Î¶ÚÆù¤Î°à½Ì¡¢µÛµ¤ÀÓÃÌĤ䏯µÛº¤Æñ¤òÆÃħ¤È¤¹¤ë½ÅÅ٤μãǯȯ¾É¡¢ËýÀ¡¢¿Ê¹ÔÀ¤ª¤è¤Óº®¹ç¿ȯÀ¿À·Ð¾ã³² |
unknown | ¥ì¥ª¥ó¡¢¥»¥ó¥È¥Ð¡¼¥Ê¡¼¥É |
565 |
Polysaccharide storage myopathy/Rhabdomyolysis ¿ÅüÎàÃù¢¶Ú¾É/²£Ìæ¶ÚÍ»²ò¾É |
¤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 ÇÙÁ£¼ð¾É |
¸ÆµÛº¤Æñ | * | ¿°ø»Ò | ¥¹¥¦¥§¥Ç¥£¥Ã¥·¥å¥Ï¥ó¥Æ¥£¥ó¥°¥É¥Ã¥° |
587 |
Pulmonary fibrosis, idiopathic ÆÃȯÀÇÙÁ£¼ð¾É |
³±¡¢¸ÆµÛº¤Æñ | ËýÀ´Ö¼ÁÀÇÙ¼À´µ¡£¼Â¼ÁŪ¤ÊÄã»ÀÁÇ·ì¾É¤ò°ú¤µ¯¤³¤¹ | unknown | ¥¦¥§¥¹¥Æ¥£¡¢¥¹¥¿¥Ã¥Õ¥£¡¼ |
601 |
Respiratory distress syndrome ¸ÆµÛÂ¥Ç÷¾É¸õ·²¡¢¸ÆµÛµçÇ÷¾É¸õ·² |
* | * | unknown | * |
674 |
Upper airway syndrome ¾åµ¤Æ»Êĺɾɸõ·² |
¸ÆµÛº¤Æñ | ûƬ¼ï¤Î¤½¤ì¤È¤Ïµ¡½ø¤¬°ã¤¦¤è¤¦¤À | unknown | ¥Î¡¼¥ê¥Ã¥Á |