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60 114 83 6 35 22 30 58 85 79 23 35 15 24
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7 Acral mutilation syndrome
»èüÀÚÃǾɸõ·²
1²Õ½ê¤Þ¤¿¤ÏÊ£¿ô¤Î»Í»è¤ÎÀè¤ò¼¹Ù¹¤ËçÓ¤á¤ë¡¢³ú¤à ÊÌ̾¡¦¤Ä¤ÞÀè̵Ä˾ɡ£°äÅÁÀ­´¶³Ð¿À·Ð¾ã³²¡£Ëö¾¿¿À·Ð¤Î°Û¾ïȯã¤Ç²¹ÅÙ¤äÄˤߤò´¶¤¸¤Ë¤¯¤¤¤¿¤á¡¢ÈéÉæ±ê¤Ê¤É¤³¤ì¤È¸À¤Ã¤¿¸¶°ø¤¬Ìµ¤¤¤Î¤Ë°Û¾ï¤Ë»Í»è¤ÎÀè¤òçÓ¤á¤ë¤Þ¤¿¤Ï³ú¤à¤³¤È¤ÇÆó¼¡Åª¤ÊºÙ¶Ý´¶À÷¤«¤éÄÙáç¤Ë¤Ê¤ê¡¢½Å¾ÉÎã¤Ç¤Ï¹­¤¬¤Ã¤¿ÄÙáç¤Î¤¿¤á¼«Á³¤ËÀÚÃǤµ¤ì¤¿¤ê³°²ÊŪ¤ËÀÚÃÇŬ±þ¤È¤Ê¤ë¤³¤È¤«¤é¤³¤Î̾¤¬¤Ä¤¤¤¿¤é¤·¤¤¡£ ºÇ½éÊâ¹Ô¤ÎÌäÂê¤Ï̵¤¤¤¬»Í»è¤ò¥Ð¥é¥Ð¥é¤ËÆ°¤«¤¹¤è¤¦¤ËÊ⤯¥±¡¼¥¹¤â¤¢¤ë¡£À¸¸å3¥ö·îº¢¤«¤é¸«¤é¤ì¤Æ¤æ¤Ã¤¯¤ê¿Ê¹Ô¤¹¤ë¡£Æ±ÂÛ·»Äï¤ËƱ¤¸¾É¾õ¤¬½Ð¤ä¤¹¤¤¡£¼£ÎÅË¡¤¬¤Ê¤¤¤¿¤á³°¹ñ¤Ç¤Ï°Â³Ú»àÂоݤ⿤¤¤Î¤ËÂФ·ÆüËܤǤοÇÃǤÏ1°Ì¥¹¥È¥ì¥¹2°Ì¥¢¥ì¥ë¥®¡¼ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown(AR¤«) ¥Ý¥¤¥ó¥¿¡¼¡¢¥ß¥Ë¥Ô¥ó
14 Aggression
¥¢¥°¥ì¥Ã¥·¥ç¥ó
À­¼Á¤¬ÁÆ˽ ¿À·ÐÅÁãʪ¼Á(ǾÆâ¥Û¥ë¥â¥ó)¥É¡¼¥Ñ¥ß¥ó¤È¥»¥í¥È¥Ë¥ó´ØÏ¢°äÅÁ»Ò¤¬´Ø·¸¤·¤Æ¤¤¤ë???í¿¤ÎÉÔ¹Ô¤­ÆϤ­¤È¤ÏÊÌ Â¿°ø»Ò *
15 Alexander disease
¥¢¥ì¥­¥µ¥ó¥À¡¼ÉÂ
áÛڻȯºî¡¢Ëãáã¡¢Ãæ¿õ¿À·Ð¤Îɵ¤¤Ç»à¤Ë»ê¤ë¡£ ¥ß¥¨¥ê¥ó¡Ê¿ñ¾ä¡¦¡¦¿À·ÐºÙ˦¤Î¼´ºö¤ò¼è¤ê°Ï¤ó¤Ç¤¤¤ëʪ¼Á)¤Î°äÅÁÀ­Âå¼Õ¼À´µ¡¢ÉÂÍý¾å¤ÏÇò¼Á¥¸¥¹¥È¥í¥Õ¥£¡¼¤ËʬÎव¤ì¤ë¡£ÀèÅ·À­¤Ç¤ÏƬ¤¬Â礭¤á ¼ç¤ËAR ¥Ð¡¼¥Ë¡¼¥º
22 Alzheimer disease
¥¢¥ë¥Ä¥Ï¥¤¥Þ¡¼ÉÂ
ǧÃÎ¾É ¥¢¥ß¥í¥¤¥É¤¬Ç¾¤ËÃßÀѤ¹¤ë¤³¤È¤Ë¤è¤Ã¤ÆÂಽ¤¹¤ë unknown ¿
42 Ataxia, cerebellar, ATP1B2-related
ATP1B2´ØÏ¢·¿ ¾®Ç¾À­±¿Æ°¼ºÄ´
¾®Ç¾À­±¿Æ°¼ºÄ´»²¾È Gene: ATP1B2
¾®Ç¾¤ÎºÙ˦¤¬³¤Ìʾõ¤ËÊÑÀ­¤¹¤ë¡£À¸¸å¤¹¤°¤«¤é¾É¾õ¤¬¥Ï¥Ã¥­¥ê¤·¤Æ¤¤¤ë¤¿¤á¡¢3¥ö·î¤ËËþ¤¿¤º°Â³Ú»à¤ÎÂоݤȤʤ뤳¤È¤¬Â¿¤¤¤è¤¦¤À¡£¸µMalinois¡Ê¥Þ¥ê¥Î¥¢¼ï¤Î¾®Ç¾±¿¼º¡Ë
AR B¥·¥§¥Ñ¥Þ¥ê¥Î¥¢
43 Ataxia, cerebellar, juvenile to adolescent, RAB24-related
RAB24´ØÏ¢·¿¼ãǯÀ­¾®Ç¾À­±¿Æ°¼ºÄ´
Âδ´Æ°ÍÉ¡¢Æ¬Éô¤Î°Õ¿Þ¿¶Àï¡Ê´ë²è¿¶Àï¡Ë¡¢¿¼¹ï¤ÊÊâ¹Ô¾ã³²¡¢¾®Ç¾¤Î°à½Ì¡ÊMRI¤Ç°à½Ì¤¬¿ÇÃǤµ¤ì¤ë¡Ë Gene: RAB24
À¸¸å6¥õ·î¡Á4ºÐ¤Î´Ö¤Ëȯ¾É¡£°Õ¿Þ¿¶Àï¤È¤Ï°ÂÀÅ»þ¤Ë¤Ï¤Û¤È¤ó¤ÉÀ¸¤¸¤Ê¤¤±¿Æ°»þ¡¦Æä˱¿Æ°½ªÎ»Ä¾Á°¤ËÀ¸¤¸¤ëΧưŪ¤Ê±¿Æ°¼À´µ¡£±¿Æ°¼ºÄ´¤ò¼çÍפʾɾõ¤È¤¹¤ë¿À·ÐÊÑÀ­¼À´µ¤òÁí¾Î¤ÇÀÔ¿ñ¾®Ç¾ÊÑÀ­¾É¤È¤¤¤¦¡£¿Ê¹ÔÀ­
AR G¥»¥Ã¥¿¡¼¡¢OE¥·¡¼¥×¥É¥Ã¥°
44 Ataxia, cerebellar, KCNJ10-related
KCNJ10´ØÏ¢·¿ ¾®Ç¾À­±¿Æ°¼ºÄ´
¿¶Àï¡¢¥ß¥ª¥­¥ß¥¢¤òȼ¤¦±¿Æ°¼ºÄ´¡¢È¯ºî Gene: KCNJ10
¥ß¥ª¥­¥ß¥¢¤È¤Ï¤Þ¤Ö¤¿¤Î¥Ô¥¯¥Ô¥¯¤±¤¤¤ì¤ó¤Î¤è¤¦¤Ê¤â¤Î¡£À¸¸å2¥õ·î¡Á8¥ö·î¤³¤íȯ¾É¡¢¸¤¼ï¤Ë¤è¤Ã¤Æ·¹¸þ¤¬¤ï¤«¤ì¤ë¡£¥Þ¥ê¥Î¥¢¤Ï³¤ÌʾõÊÑÀ­¤â
AR ¥¸¥ã¥Ã¥¯¡¢¥Ñ¡¼¥½¥ó¥é¥Ã¥»¥ë¡¢¥é¥Ã¥»¥ë¥Æ¥ê¥¢¡¢S¥Õ¥©¥Ã¥¯¥¹¥Æ¥ê¥¢¡¢¥Þ¥ê¥Î¥¢
45 Ataxia, cerebellar, neonatal, GRM1-related
¾®Ç¾À­±¿Æ°¼ºÄ´
´ã¿Ì¡¢µ¯Î©ÉÔǽ¡¢Êâ¹Ô¾ã³² Gene: GRM1
¥Ð¥ó¥Ç¥é¾É¸õ·²
¤³¤Î¸¤¼ï¤Î¤ß¥ß¥º¡¼¥êÂç³Ø¤Ç°äÅÁ»Ò¸¡ºº¡¡http://www.caninegeneticdiseases.net/ataxia/coton.htm
À¸¸å3½µÌܤ³¤í¤«¤é¾É¾õ¤Ëµ¤¤Å¤¯¡£´ã¿Ì¤ÏÌܤ¬³«¤¤¤Æ¤¹¤°¤«¤é¤ï¤«¤ë¤³¤È¤â¡Ê2½µÌÜ¡Ë¡£Àº¿À¾õÂÖ¤ÏÄ̾ï
AR ¥³¥È¥ó¥Ç¥Ä¥ì¥¢¥ë
46 Ataxia, cerebellar, progressive early-onset, SEL1L-related
Ááȯ·¿¿Ê¹ÔÀ­¾®Ç¾À­±¿Æ°¼ºÄ´
¿¶Àï¡¢±¿Æ°¼ºÄ´¡¢¿Ê¹ÔÀ­¤ÎÀ®Ä¹¾ã³² Gene: SEL1L
Áá´üȯ¾É·¿¿Ê¹ÔÀ­¤Î¿À·Ð·Ï¤ÎÊÑÀ­¼À´µ¡£¥×¥ë¥­¥ó¥¨ºÙ˦¤ÎÃø¤·¤¤Â»¼º
AR ¥Õ¥£¥Ë¥Ã¥·¥å¥Ï¥¦¥ó¥É
47 Ataxia, progressive
¿Ê¹ÔÀ­±¿Æ°¼ºÄ´
¤È¤¯¤ËÁ°»è¤ÎÆ°¤­¤¬¤Þ¤È¤Þ¤ê¤Ê¤¯¤®¤³¤Á¤Ê¤¤¡¢Á°»è¤ÎÃæ±û¤Î2ËܻؤΤĤÞÀèΩ¤Á¤ÇÊ⤯¡¢ ¤æ¤Ã¤¯¤ê¤È¿Ê¹Ô¤¹¤ë¿À·Ð·Ï¤ÎÊÑÀ­¼À´µ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥í¥Ã¥È
48 Ataxia, progressive, with head tremor and seizures
*ƬÉô¿¶Àï¤È¤Æ¤ó¤«¤ó¤òȼ¤¦¿Ê¹ÔÀ­±¿Æ°¼ºÄ´
±¿Æ°¼ºÄ´¤ò»²¾È ƬÉô¿¶Àï¤È¤ÏΩ¤Á¾å¤¬¤Ã¤¿¤é¿Ì¤¨¤ë¤¬²£¤¿¤ï¤ë¤È¿Ì¤¨¤¬¾Ã¤¨¤ë¾õÂÖ(¾®Ç¾¼À´µ¤Î¾É¾õ) ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥³¥Ã¥«¡¼
49 Ataxia, spinocerebellar, CAPN1-related
CAPN1´ØÏ¢·¿ÀÔ¿ñ¾®Ç¾¼ºÄ´
º¸±¦ÂоΤα¿Æ°¼ºÄ´¡¢áÛÀ­¤ÎÆ°¤­¡¢Êâ¹Ô¾ã³²¡¢ Gene: CAPN1
Êâ¹Ô¾ã³²¤ÏÀ¸¸å2¡Á9¥ö·î¤Þ¤Ç¤Ëµ¯¤³¤ë¡£ÉÂÍýÁÈ¿¥¤Ï¼ç¤ËÁ´ÂΤÎÃæ¿õ¿À·Ð·Ï¤Î¼À´µ¡¢¼´º÷¾ã³²¤ò¼¨¤·¤Æ¤¤¤ë¡£
AR ¥¸¥ã¥Ã¥¯¥é¥Ã¥»¥ë¡¢¥Ñ¡¼¥½¥ó¥é¥Ã¥»¥ë
50 Ataxia, spinocerebellar, ITPR1-related
ITPR1´ØÏ¢·¿ÀÔ¿ñ¾®Ç¾¼ºÄ´
Âδ´¤ÎÍɤì¤ä¿¶¤ê»Ò´ã¿¶¡¢¥Ð¥é¥ó¥¹¤Î¾ã³²¡¢Èó¶¨Ä´±¿Æ° Gene: ITPR1
Êâ¹Ô¾ã³²¤ÏÀ¸¸å4·îº¢¤«¤éµ¯¤³¤ë¡£¿Ê¹ÔÀ­¡£
AR I¥¹¥Ô¥Î¡¼¥Í
51 Ataxia, spinocerebellar, SPTBN2-related
SPTBN2´ØÏ¢·¿ÀÔ¿ñ¾®Ç¾¼ºÄ´
Êâ¹Ô¾ã³² Gene: SPTBN2
Êâ¹Ô¾ã³²¤ÏÀ¸¸å3¡Á4½µ¤á¤ÎºÇ½é¤ÎÊâ¹Ô»þ¤«¤éµ¯¤³¤ë¡£¿Ê¹ÔÀ­¡£
¸¤¤Ë¸«¤é¤ì¤Æ¤¤¤ë°äÅÁÀ­¤ÎÀÔ¿ñ¾®Ç¾¼ºÄ´¤Ë¤ÏÊ£¿ô¤Î¥¿¥¤¥×¤¬¤¢¤ê¡¢¤½¤ÎÃæ¤Ë¤Ï¥Ò¥È¤Ëµ¯¤­¤ë·¿¤Î¤¦¤Á¥Ò¥È¤Ç¤Ï¤Þ¤À¸¶°ø°äÅÁ»Ò¤ò¤Ï¤¸¤áÁ´ÍƤò²òÌÀ¤µ¤ì¤Æ¤¤¤Ê¤¤¥¿¥¤¥×¤ÈƱ°ì¤È¹Í¤¨¤é¤ì¤ë¤â¤Î¤¬¤¤¤¯¤Ä¤«¤¢¤ë¡£¤½¤¦¤¤¤Ã¤¿Èó¾ï¤ËÂçÀڤǺ¤¤¸¦µæ¤â¤Ê¤µ¤ì¤Æ¤¤¤ë¡£
AR ¥Ó¡¼¥°¥ë
93 Cauda equina syndrome
ÇÏÈø(¤Ð¤Ó)¾É¸õ·²
²¼È¾¿È¤ÎÄˤߡ¢¸µµ¤¾ÃÄÀ¡¢ìì¹Ô ÇÏÈø¿À·Ð¾ã³²¤Ë¤è¤ëç¯æùľIJ¤ä²ñ±¢Éô¤Ç¤Î´¶³Ð±¿Æ°¾ã³²¡£¸Ô´ØÀá·ÁÀ®ÉÔÁ´¤Ê¤É¤Î¤Û¤«¤Î´ØÀá¼À´µ¤È¤Î¶èÊÌ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown G¥·¥§¥Ñ¡¢¥é¥Ö
94 Central core myopathy
¥»¥ó¥È¥é¥ë¥³¥¢ÉÂ
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
95 Cerebellar abiotrophy
¾®Ç¾À­¥¢¥Ó¥ª¥È¥í¥Õ¥£¡¼
Â礭¤¤ÊâÉý¤È¤®¤³¤Á¤Ê¤¤Ê⤭Êý¡¢Æ¬Éô¤È¸òº¹¤¹¤ë­¤Î¿¶Àï¡¢¼ãÎð»þ¤Î¸å­¤Î±¿Æ°¼ºÄ´¡¢¿©»öÃæ¤ÎƬÉô¿¶Àï Gene: SPTBN2
abiotrophy¤ÏºÙ˦¤äÁÈ¿¥¤Î»àÌǤΰÕ
¥Ñ¥Ô¥ª¥ó¸¤¤ª¤è¤Ó¥Ñ¥Ô¥ª¥ó´ØÏ¢¸¤¼ï¤Ë¤ª¤±¤ë¿À·Ð¼´º÷¥¸¥¹¥È¥í¥Õ¥£¡¼¤È¾®Ç¾Èé¼Á¥¢¥Ó¥ª¥È¥í¥Õ¥£¡¼¤ÎÎ×¾²¡¦ÉÂÍý½ê¸«(ÉÂÍý³Ø)
AR ¥Ñ¥Ô¥è¥ó¡¢¥é¥Ö¡¢¥Ó¡¼¥°¥ë¡¢¥Ü¡¼¥À¡¼¥³¥ê¡¼
96 Cerebellar cortical atrophy
*¾®Ç¾Èé¼Á°à½Ì¾É
Êâ¹Ô¼ºÄ´¡¢Á°»è¤Î¼ºÄ´¤ÏÈæ³ÓŪ·ÐÅÙ ¾®Ç¾¤Ï»ÑÀªÀ©¸æ¡¦¿ÈÂζ¨Ä´¡¦Ê¿¹Õ¤Ë´Ø·¸¤·¡¢Ç¾´´¤Î¶¶¤È±ä¿ñ¤ÎÇئ¤Ë¤¢¤ë¾®Ç¾¤Ï³¥Çò¼Á¤ÎÈéÉæ¤ÈÇò¼Á¤Î¿ñ¼Á¤«¤é¤Ê¤ë¡£Çò¼Á¤Ï³¥Çò¼ÁÃæ¤ËÊü¼Í¾õ¤Ë¹­¤¬¤êÃæ±ûÉô¤ÎÃîÉô¤È¾®Ç¾È¾µå¤¬¶èÊ̤µ¤ì¤½¤Î¾®Ç¾ÃîÉô¤Ë°à½Ì¤¬µ¯¤³¤ë AR ¥Ñ¥Ô¥è¥ó¡¢¥¢¥à¥¹¥¿¡¢¥é¥Ö
97 Cerebellar cortical degeneration, Hungarian Vizsla
¥Ï¥ó¥¬¥ê¥¢¥ó¥Ó¥º¥é¤Î¾®Ç¾Èé¼ÁÊÑÀ­¾É
À¸¸å3¥ö·îÁ°¸å¤«¤é¤Î¿Ê¹ÔÀ­¤Î±¿Æ°¼ºÄ´ Gene: SNX14
¾®Ç¾Èé¼ÁÊÑÀ­¤Ï¤³¤ì¤Þ¤Ç¤Ë¿¤¯¤Î¸¤¼ï¤Ç¾ÉÎã¤ÎÊó¹ð¤ä¸¦µæ¤Ê¤É¤¬¤¢¤ë¤¬¡¢¥Ó¥º¥é¼ï¤Ç¤Ï2016ǯ¤Î¤³¤Îȯɽ¤¬½é¤Î¤è¤¦¤À¡¢¤È¤¤¤¦Êó¹ð
¾ïÀ÷¿§ÂÎÀ­ ¥·¥ç¡¼¥È¥Ø¥¢¡¼¥É¥Ó¥º¥é
98 Cerebellar degeneration
¾®Ç¾ÊÑÀ­¾É
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¶¨Ä´±¿Æ°(°ÜÆ°¤·¤¿¤¤»þ¤Ë»Í»è¤ò¤É¤Î¤¯¤é¤¤¤Î¥¿¥¤¥ß¥ó¥°¤ÇÆ°¤«¤¹¤«¤Ê¤É¤òȽÃǤ·¤Æ¤¤¤ë¤Î¤¬¾®Ç¾)¤òÄ´Àᤷ¤Æ¤¤¤ë¾®Ç¾¤ÎÊÑÀ­¤Ë¤è¤êµ¯¤³¤ë°Û¾ï¡£(»²¹Í¡¨±Ç²è¡Ö1¥ê¥Ã¥È¥ë¤ÎÎÞ¡×)¡¡¤Þ¤¿¡¢ÊÑÀ­¤È¤ÏºÙ˦¤äÁÈ¿¥¤Ë¾ã³²¤¬µ¯¤³¤êÀ­¼Á¤¬ÊѲ½¤¹¤ë¤³¤È¤ò¸À¤¦
AD,AR,X-link OE¥·¡¼¥×¥É¥Ã¥°¡¢¥Ü¡¼¥À¡¼¥³¥ê¡¼¡¢¥¹¥¿¥Ã¥Õ¥£¡¼
99 Cerebellar hypoplasia
¾®Ç¾Äã·ÁÀ®¡¢¾®Ç¾·ÁÀ®ÉÔÁ´
À®Ä¹Ãٱ䡢¶í´´¤ä»Í»è¤Î¶¦Æ±±¿Æ°¼ºÄ´(¤®¤¯¤·¤ã¤¯¤·¤¿Æ°¤­)¡¢Àµ¾ï»ÑÀªÊÝ»ý¤ÎÉÔǽ¡¢Æ¬Éô¤È»Í»è¤Î¿¶Àï ÀèŷŪ¤Ê¾®Ç¾¤Îȯ°é¾ã³²¤À¤¬°ìÈÌŪ¤Ë¿Ê¹Ô¤Ï¤·¤Ê¤¤ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown Ç­
100 Cerebellar hypoplasia, VLDLR-associated
VLDLR ´ØÏ¢¾®Ç¾Äã·ÁÀ®
À®Ä¹Ãٱ䡢±¿Æ°È¯Ã£Ãٱ䡢Êâ¹Ô°Û¾ï¡ÊÊâÉý¤¬Á°¸åº¸±¦Èù̯¤Ë¥Ð¥é¥Ð¥é¡Ë¡¢¿¶Àï¡¢¤Æ¤ó¤«¤ó¡¢¿åƬ¾É¡¢³ÑËìÄÙáç¤äÇòÆâ¾ã¤Ê¤ÉÁá´üȯ¸½¡¢¼Ð»ë Gene: VLDLR
Dandy-Walker-like malformation¥À¥ó¥Ç¥£¥¦¥©¡¼¥«¡¼ÍÍ´ñ·Á
VLDLR¤ÏVery low density lipoprotein ĶÄãÈæ½Å¥ê¥Ý¥¿¥ó¥Ñ¥¯¼Á¡Ê´Î¡¤«¤é¶ÚÆù¤Ê¤É¤ÎËö¾¿¤Ë»é¼Á¤ò¶¡µë¤¹¤ëƯ¤­¡Ë¤Îreceptor¡¡¼õÍÆÂΡ¡
Ä̾ïÀ¸¸å6½µ¤Þ¤Ç¤Ë¿åƬ¾É°Ê³°¤Î¾É¾õ¤¬½Ð¤ëÈó¿Ê¹ÔÀ­¡£Dandy-Walker Syndrome¡¡¥À¥ó¥Ç¥£¡¼¡¦¥¦¥©¡¼¥«¡¼¾É¸õ·² ¤ËÎà»÷¤¹¤ë¡£¾®Ç¾È¾µåÈø¦¤È¾®Ç¾ÃîÉô¤ÎÈø¦Éôʬ¤Î°ì´ÓÀ­¤ÎÄã·ÁÀ®¡¦°à½Ì¤¬¸«¤é¤ì¤ë¾®Ç¾´ñ·Á¡£¶ÚÅÅ¿Þ¤ÏÀµ¾ï¤À¤¬¶Ú¶ÛÄ¥Äã²¼
AR ¥æ¡¼¥é¥·¥¢¥ó
101 Cerebellar Purkinje cell degeneration
¾®Ç¾À­¥×¥ë¥­¥ó¥¨ºÙ˦ÊÑÀ­¾É
¾®Ç¾ÊÑÀ­¾É¤ò»²¾È ¾®Ç¾Èé¼Á¤Î¥×¥ë¥­¥ó¥¨ºÙ˦¤ÎÊÑÀ­ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥Ð¥Ë¡¢¥í¡¼¥Ç¥·¥¢¥ó
102 Cervical vertebral compressive myelopathy
·ÛÄÇ°µÇ÷À­ÀÔ¿ñ¾É
* ÀΤ«¤éÃΤé¤ì¤Æ¤¤¤ë°äÅÁÀ­±¿Æ°¼ºÄ´¾É¡£¸Å¤¯¤Ï¥¹¥à¡¼¥¹¥Õ¥©¥Ã¥¯¥¹¥Æ¥ê¥¢¤ÎÊó¹ð¤¬1957ǯ¤Ë¤¢¤ë¤Û¤É¡£ unknown E¥Ö¥ë¡¢¥É¡¼¥Ù¥ë¥Þ¥ó¡¢¥Ç¥ó¡¢¥³¥¤¥±¥ë¾
103 Chiari malformation Type I with syringomyelia
*ÀÔ¿ñ¶õƶ¾É¤Ëȼ¤¦­µ·¿¥­¥¢¥ê´ñ·Á
* * unknown ¥­¥ã¥Ñ¥ê¥¢
139 Compulsive disorder
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167 Degenerative encephalopathy
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168 Degenerative myelopathy
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¡ÖOFA¡×DNA¥Æ¥¹¥È¸¤¼ï¥Ð¡¼¥Ë¡¼¥º¡¦¥Ü¥¯¥µ¡¼¡¦C¥ì¥È¥ê¡¼¥Ð¡¼¡¦Î¾¥³¡¼¥®¡¼¡¦G¥·¥§¥Ñ¡¼¥É¡¦G¥ì¥È¥ê¡¼¥Ð¡¼¡¦¥Ô¥ì¥Í¡¼¥º¡¦¥±¥ê¡¼¥Ö¥ë¡¼¥Æ¥ê¥¢¡¦¥Ñ¥°¡¦R¥ê¥Ã¥¸¥Ð¥Ã¥°¡¦¥·¥§¥ë¥Æ¥£¡¦WF¥Æ¥ê¥¢Â¾
AR ¥×¡¼¥É¥ë¡¢Î¾¥³¡¼¥®¡¼¡¢G¥·¥§¥Ñ¡¼¥É
169 Degenerative myopathy of obturator-externus
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Êâ¹Ô¾ã³²¡¢¶Ú¿ê¼å ¥ß¥ª¥Ñ¥Á¡¼¤Ï¶ÚÆù¤Î¼À´µ¤ÎÁí¾Î¡¢¶ÚÆù¼«ÂΤËÌäÂê¤Î¤¢¤ë¶Ú¸¶À­¼À´µ¡Ê¶ÚÆù¤òÆ°¤«¤¹¿À·Ð¤ËÌäÂ꤬¤¢¤ë¤Ê¤é¿À·Ð¸¶À­¼À´µ¡¦¥Ë¥å¡¼¥í¥Ñ¥Á¡¼¡Ë¡£³°Êĺ¿¶Ú¤È¤ÏÂçÂܤò³°Êý¤Ø²óž¤¹¤ëºîÍѤò»ý¤Ä¹üÈפÎÊĺ¿¹¦¤ò³°Â¦¤«¤éʤ¤¦Àð¾õ¤Î¶ÚÆù unknown *
186 Dysautonomia
¼«Î§¿À·Ð°Û¾ï¾É(¼ºÄ´¾É)
* Âå¼Õ¡¢¾Ã²½¤Ê¤É¤ÎÀ¸Ì¿³èÆ°¤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¿³èÆ°¤Î°Ý»ý¤ä¤½¤ÎÄ´Àá¤ò¹Ô¤¤¡¢À䤨¤º³èÆ°¤·¤Æ¤¤¤ë·ì´É¡¢¥ê¥ó¥ÑÁ£¡¢Æ⡤ʤɼ«Ê¬¤Î°Õ»×¤È¤Ï̵´Ø·¸¤ËƯ¤¯ÁÈ¿¥¤ËʬÉÛ¤¹¤ë¿À·Ð·Ï¡£ unknown *
187 Dyskinesia, paroxysmal
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188 Dyskinesia, paroxysmal, PIGN-related
PIGN·¿¡¡È¯ºîÀ­¥¸¥¹¥­¥Í¥¸¥¢
¸å¤í­¤¬¸ò¸ß¤Þ¤¿¤ÏƱ»þ¤ËÄ·¤Í¾å¤¬¤ë¤è¤¦¤Êȯºî¤¬¿ôʬ¡Á¿ô»þ´Ö³¤¯¡£10Æü¤´¤È¤Ê¤ÉȯºîÉÑÅÙ¤¬¹â¤¤ Gene: PIGN
Æü¾ï¤Î¿©»ö¤ä±¿Æ°¤ä¶Ã¤­¤Ëº¸±¦¤µ¤ì¤Ê¤¤¤³¤È¤â¤¢¤ë¡¢¶½Ê³¤Ïȯºî¤Î°ú¤­¶â¤Ë¤Ê¤ê¤ä¤¹¤¤
YouTube¤Ê¤É¤ËÆ°²è¤¢¤ê
AR ¥½¥Õ¥È¥³¡¼¥Æ¥Ã¥É¥¦¥£¡¼¥È¥ó¥Æ¥ê¥¢
205 Encephalomyelopathy
ǾÀÔ¿ñ¾ã³²
Ǿ¤äÀÔ¿ñ¤Ë¤Ê¤ó¤é¤«¤ÎÉÂŪÌäÂ꤬¤¢¤ë¾õÂÖ¤ÎÁí¾Î ÀÔ¿ñ¤¬¾ã³²¤ò¼õ¤±¤ÆÀ¸¤¸¤ë±¿Æ°¾ã³²¡¦´¶³Ð¾ã³²¤ò¤ß¤ëÉÂÂÖ¡£¥ß¥¨¥í¥Ñ¥·¡¼ * *
214 Epilepsy
¤Æ¤ó¤«¤ó
°Õ¼±¤ò¼º¤Ã¤ÆÈ¿±þ¤Î¤Ê¤¯¤Ê¤ë¤Æ¤ó¤«¤óȯºî ǾºÙ˦¤Î¥Í¥Ã¥È¥ï¡¼¥¯¤Ëµ¯¤­¤ë°Û¾ï¤Êȯ²Ð(¤Æ¤ó¤«¤óÊüÅÅ)¤Î¤¿¤á¤Æ¤ó¤«¤óȯºî¤òÍ褹¼À´µ¤¢¤ë¤¤¤Ï¾É¾õ AR ¿
215 Epilepsy, benign familial juvenile
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¤Æ¤ó¤«¤ó»²¾È Gene: LGI2
AR ¿
216 Epilepsy, generalized myoclonic, with photosensitivity
¸÷´¶¼õÀ­¤òȼ¤¦¥ß¥ª¥¯¥í¡¼¥Ì¥¹¤Æ¤ó¤«¤ó
¤Æ¤ó¤«¤ó»²¾È À¸¸å6½µ¤«¤é18¥õ·î¤Î´Ö¤Ëȯ¾É¤¬¤ß¤é¤ì¤Æ¤¤¤ë¤è¤¦¤À¡£¥Ò¥È¥ß¥ª¥¯¥í¡¼¥Ì¥¹â¡áò¤Î¥â¥Ç¥ëŪÌò³ä¸¦µæ¤¬´üÂÔ¤µ¤ì¤ë AR ¥í¡¼¥Ç¥·¥¢¥óRB
217 Episodic falling
ȯºîÀ­Å¾ÅÝ
¶½Ê³¤ä±¿Æ°¤ËͶȯ¤µ¤ì¤ëȯºî¡¢¶Ú¶ÛÄ¥ Gene: BCAN
1ºÐ°ÊÁ°¤Ëȯ¾É ¥¤¥®¥ê¥¹¡¡The Animal Health Trust¤Ë¤Æ¥­¥ã¥Ð¥ê¥¢¤Î°äÅÁ»Ò¸¡ºº¤¢¤ê
AR ¥­¥ã¥Ð¥ê¥¢
219 Exercise-induced collapse
±¿Æ°Í¶È¯À­µõæ
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À¸¸å5¥ö·î¡Á3ºÐ¤¯¤é¤¤¤Þ¤Ç¤Ëȯ¾É
AR ¥é¥Ö¥é¥É¡¼¥ë¡¢C¥ì¥È¥ê¥Ð¡¼
269 Granule cell type cerebellar hypoplasia
ðùγºÙ˦·¿¾®Ç¾Äã·ÁÀ®
Î×¾²Ãû¸õ¤¬·ÚÈù¤Ç¥Ð¥é¥ó¥¹¤¬°­¤«¤Ã¤¿¤ê¤ï¤º¤«¤Ë¤è¤í¤á¤¯ÄøÅÙ ¾®Ç¾¤Î±¿Æ°¤òÄ´À°¤¹¤ë¾ì½ê¤ÎºÙ˦¤ÎÉÔ´°Á´¤Êȯã¡¢¸Ï³é¤Ë¤è¤ë¤¬¿ÇÃǤ¬º¤Æñ¡£ ÁÈ¿¥³ØŪ¤Ë¤Ï¥×¥ë¥­¥ó¥¨ºÙ˦¤È¿ñ¼Á¤Î¹Ô¤Î´Ö¤ËðùγºÙ˦¤¬·çÇ¡¤·¤Æ¤¤¤ë¶¹¤¤¥¹¥Ú¡¼¥¹ ¾ïÀ÷¿§ÂÎÀ­¡¢Ã±°ì°äÅÁ»Ò ¥Ó¡¼¥°¥ë
270 Guillain-Barr-like polyradiculoneuropathy
*¥®¥é¥ó¡¦¥Ð¥ì¡¼ÍÍ Â¿È¯¿À·Ðº¬¶Ú¾ã³²
* * unknown *
289 Hepatic encephalopathy
´ÎÀ­Ç¾¾É
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290 Hepatic encephalopathy, portosystemic
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´ÎÀ­Ç¾¾É»²¾È ¿¤¯¤ÏÌçÌ®¥·¥ã¥ó¥È¤«¤é¤Îȯ¾É¡£·ì´É¤¬´Î¡¤ò±ª²ó¤·¤Æ¤¤¤ë¤¿¤á´Î¡¤Ç²òÆǤµ¤ì¤ë¤Ù¤­ÆÇÁǤ¬Á´¿È¤ò¤á¤°¤êǾ¤ËÆÇÀ­¤òµÚ¤Ü¤¹ * ¿
308 Horner syndrome
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309 Hydranencephaly
¿å̵Ǿ¾É
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unknown *
310 Hydrocephalus
¿åƬ¾É
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311 Hydrocephalus, internal
Æâ¿åƬ¾É
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312 Hydromelia
*hydromyelia¤Ï¿åÀÔ¿ñ¾É
* ¸½ºß¥Ò¥È¤Î°åÎŤǤÏÀÔ¿ñ¶õƶ¾Ésyringomyelia¤ÈƱ¤¸¤â¤Î¤È¤·¤Æ°·¤ï¤ì¤Æ¤¤¤ë¤è¤¦¤À * *
323 Hyperkinesis
±¿Æ°Ð¶¿Ê¾É
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337 Hypomyelination of the central nervous system
*Ãæ¿õ¿À·Ð·Ï¿ñ¾äÄã·ÁÀ®
À¸¸å2¡Á3½µº¢¤«¤é¤Î¿Ì¤¨¡¢¤½¤Î¾¾®Ç¾¾ã³² Gene: FNIP2
À¸¸å¤¹¤°¤«¤é¤Î¿À·Ð¾É¾õ¡£Ãæ¿õ¿À·Ð·Ï¡ÊǾ¤ÈÀÔ¿ñ¡Ë¥ß¥¨¥ê¥ó·ÁÀ®ÉÔÁ´¡¢Ëö¾¿¿À·Ð¤ÏÄ̾ï¤ÎÍ­¿ñ¤Ç¤¢¤ë
unknown ¥ï¥¤¥Þ
338 Hypomyelinogenesis, congenital
*ÀèÅ·À­¿ñ¾ä·ÁÀ®ÉÔÁ´
»Í»èËãáã¡¢¤Æ¤ó¤«¤ó¡¢¿Ê¹ÔÀ­¤Î±¿Æ°¼ºÄ´¡¢Éô°Ì¤Ë¤è¤êÍÍ¡¹¤Ê¿À·Ð¼À´µ ¿ñ¾ämedullary sheath¤È¤Ï8³ä¤Û¤É¤¬»é¼Á¤Ç2³ä¤Û¤É¤¬¤¿¤ó¤Ñ¤¯¼Á¤«¤é¤Ê¤ëºÙ˦·Á¼ÁËì¤Î¿Áع½Â¤ÂΡ£¿ñ¼Á¤Î¿À·ÐÀþ°Ý¤¬»ý¤Ã¤Æ¤¤¤ë¾ä¡¢Çò¼Á¡£¤¢¤ë¼ï¤ÎÇò¼Á¥¸¥¹¥È¥í¥Õ¥£ unknown ¥Ö¥ë¥Þ¥¹¥Á¥Õ¡¢µí
341 Hypothalamic dysplasia
»ë¾²²¼Éôµ¡Ç½ÉÔÁ´
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374 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
384 Leukoencephalomyelopathy
*Çò¼ÁǾÀÔ¿ñ¾É
¿Ê¹ÔÀ­¤Î»Í»è¤ÎÊâ¹Ô¾ã³²¡¢±¿Æ°¼ºÄ´ ÀÔ¿ñ¤ÈǾ¤ÎÇò¼Á¤Ë±Æ¶Á¤òÍ¿¤¨¤ë°äÅÁÀ­¿À·ÐÊÑÀ­¼À´µ¡£¥Ò¥È¤ÎÇò¼ÁǾ¾É(¤È¤ÏÊÌʪ¤À¤¬)¤Î¼£ÎŤËÌòΩ¤Ä²ÄǽÀ­¤¬¤¢¤ë¤¿¤á¸¦µæ¤¬¿Ê¤à¡£**Ǿ´´¤ÈÀÔ¿ñž°Ü¤È¹â¤¤Æý»ÀÇ»ÅÙ??**°ì¼¡ÁÈ¿¥ÉÂÍý³ØŪÉÂÊѤÏÀÔ¿ñ¤ÈǾ´´¤Îæ¿ñ¤ÈÆ𲽾ɤοȯ?? AR ¥í¥Ã¥È
389 Lissencephaly and cerebellar hypoplasia
³êǾ¾É¤È¾®Ç¾¤Î·ÁÀ®ÉÔÁ´
´éËư۾¤Æ¤ó¤«¤óȯºî¡¢Ç¾À­¤Þ¤Ò¡¢Æâ¡´ñ·Á »ú¤Î¤´¤È¤¯Ç¾¤ÎɽÌ̤¬³ê¤é¤«¡¢ÂçǾµ¡Ç½ÉÔÁ´¡£Ç¾¤Î·ÁÀ®°Û¾ï¤ÎÄøÅ٤ǽžÉÅÙ¤¬°Û¤Ê¤ë¡£³¥Çò¼ÁǾ¹Â·ÁÀ®¤Î·çÇ¡¡£Ê»È¯¤¹¤ëÆâ¡´ñ·Á¤äÓë²¼¾ã³²¤Î±Æ¶Á¤ò¼õ¤±Î¥Æý´ü¤Þ¤Ç¤ÎÁá´ü»àË´¤Î²ÄǽÀ­¤¬¹Í¤¨¤é¤ì¤ë unknown ¥é¥µ¥¢¥×¥½
415 Motor neuron disease
±¿Æ°¿À·Ð(¥Ë¥å¡¼¥í¥ó)¼À´µ
¹Åľ¡¢¤®¤³¤Á¤Ê¤¤Æ°ºî¤Ê¤É¶ÚÎÏÄã²¼¡¦¶Ú°à½Ì ¥Ë¥å¡¼¥í¥ó¼À´µ¤Ï±¿Æ°·Ï¤¬¾ã³²¤µ¤ì¤ë¤¤¤¯¤Ä¤«¤Îɵ¤¤Ç¡¢ºÇ¤â¶¯¤¯¾ã³²¤Î¤¢¤ëÉôʬ¤Ë±þ¤¸¤ÆÉÂ̾¤¬¤Ä¤¯¡£¾É¾õ¤Ï¾ã³²¤ÎÉôʬ¤Ë¤è¤Ã¤Æ°Û¤Ê¤ë¡£±¿Æ°Èé¼Á¤ÈǾ´´¤Î´Ö¡¢¤Þ¤¿¤ÏÀÔ¿ñ¤Î´Ö¤Î¥Ë¥å¡¼¥í¥ó¤¬¾ã³²¤µ¤ì¤ë¾å°Ì¤È¡¢Á°³ÑºÙ˦¤Þ¤¿¤Ï¹ü³Ê¶Ú¤Ø¤È¿­¤Ó¤¿¤½¤Î±ó¿´À­¼´º÷¤¬¾ã³²¤µ¤ì¤ë²¼°Ì¤ËʬÎव¤ì¤ë¡£
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416 Motor neuron disease, lower
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430 Multiple system degeneration
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444 Myclin defect
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446 Myelopathy
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448 Myoclonus epilepsy of Lafora
¥é¥Õ¥©¥éɤΥߥª¥¯¥í¡¼¥Ì¥¹â¡áò
¤Æ¤ó¤«¤óȯºî Gene: NHLRC1
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460 Narcolepsy
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AR ¥À¥Ã¥¯¥¹Â¾Â¿
463 Necrotising encephalopathy, subacute, of Leigh
*°¡µÞÀ­²õ»àÀ­Ç¾ÀÔ¿ñ±ê¡¢¥ê¡¼¾É¸õ·²
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464 Necrotising myelopathy
*²õ»àÀ­¥ß¥¨¥í¥Ñ¥Á¡¼
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465 Necrotizing meningoencephalitis
²õ»àÀ­¿ñËìǾ±ê
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466 Neonatal encephalopathy with seizures
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AR *
474 Neuroaxonal dystrophy
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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
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AR G¥·¥å¥Ê¡¢¥Ñ¥Ô¥è¥ó¡¢¥í¥Ã¥È
475 Neuroaxonal dystrophy, juvenile
¼ãǯÀ­¿À·Ð¼´º÷¥¸¥¹¥È¥í¥Õ¥£¡¼
¿À·Ð¼´ºö¥¸¥¹¥È¥í¥Õ¥£¡¼»²¾È Gene: TECPR2
Êâ¹Ô°Û¾ï¤ä¹ÔÆ°¾ã³²¤ò´Þ¤àÍÍ¡¹¤Ê¿À·Ð³ØŪ·ç»
AR ¥¹¥Ñ¥Ë¥Ã¥·¥å¥¦¥©¡¼¥¿¡¼¥É¥Ã¥°
476 Neuroaxonal dystrophy, PLA2G6-related
PLA2G6´ØÏ¢·¿¡¡¿À·Ð¼´º÷¥¸¥¹¥È¥í¥Õ¥£¡¼
¿À·Ð¼´ºö¥¸¥¹¥È¥í¥Õ¥£¡¼»²¾È Gene: PLA2G6
Êâ¹Ô°Û¾ï¤ä¹ÔÆ°¾ã³²¤ò´Þ¤àÍÍ¡¹¤Ê¿À·Ð³ØŪ·ç»
AR ¥Ñ¥Ô¥è¥ó
477 Neurodegenerative vacuolar storage disease
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* ¡ö¡ö¡ö
AR ¡ö
478 Neurogenic muscular atrophy
¿À·Ð¸¶À­¶Ú°à½Ì¾É
¤Ä¤Þ¤Å¤­¡¢Êâ¹Ôº¤Æñ¡¢»Í»è¤¬ºÙ¤¯¤ä¤ï¤é¤«¤¤¡¢»Í»è¤ÎºÙ¤«¤¤¿Ì¤¨ ¶ÚÆù¤Îµ¡Ç½¾ã³²¡£°äÅÁÀ­¿Ê¹ÔÀ­¿À·Ð¸¶À­¶Ú°à½Ì¾É¡£À¸¸å13½µº¢¤«¤é¾É¾õ¤¬½Ð»Ï¤áÂνÅÁý²Ã¤Î»ß¤Þ¤ë6¥ö·îº¢¤Ë¤Ïɵ¤¤Î¿Ê¹Ô®ÅÙ¤¬¤¤¤Ã¤¿¤óÃÙ¤¯¤Ê¤ë¤¬Ä̾ï¤ÎÈ¿¼Í¿À·Ð¤â½ù¡¹¤Ë¸º¾¯¤·Áá´ü»àË´¤Ë¤¤¤¿¤ë ¾ïÀ÷¿§ÂÎÀ­¡¢unknown
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479 Neurological syndrome
¿À·ÐÀ­¾É¸õ·²
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AR G¥»¥Ã¥¿¡¼
480 Neuronal abiotrophy
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491 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¤ÏÆ°¤­¤¬Á᤯¤Ê¤Ã¤¿¤êÃÙ¤¯¤Ê¤Ã¤¿¤ê¤Þ¤È¤Þ¤ê¤Î¤Ê¤¤¹ÔÆ°¡¢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¡¦±þÍÑưʪ²Ê³ØÀ칶¥Û¡¼¥à¥Ú¡¼¥¸¤µ¤Þ¡Ö»º¶Èưʪ¤Î¿À·Ð·Ï¼À´µ¤ÎÉÂÍý¡Á³¤³°¾ÉÎã¤òÃæ¿´¤Ë¡Á¡×
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492 Neuronopathy, progressive
¿Ê¹ÔÀ­¿À·ÐºÙ˦¾ã³²
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493 Neuropathy, giant axonal
*µðÂç¼´º÷·¿¿À·Ð¾ã³²
¸å»è¤¬¼å¤¯¤Ä¤ÞÀè¤ò°ú¤­À¢¤ë¡¢Êâ¹Ôº¤Æñ¡¢µ¯Î©º¤Æñ¡¢¿©Æ»¤Î¶ÚÄã²¼¤Î¤¿¤áÓÒÅÇ(̤¾Ã²½¤Î¿©Êª¤ÎµÕή) Ǿ¡¢ÀÔ¿ñ¡¢¿À·Ð¤Ç¡¢¿À·Ð·Ï¤Î¹­ÈϤʰ۾ï¤ò°ú¤­µ¯¤³¤¹¡£¸¤¤Î¶»¤Ë¼ª¤òÅö¤Æ¤¿»þ±ÕÂΤ¬Î®¤ì¤ë²»¤¬¶¯¤¤¡£¤Ä¤ÞÀè¤Î°ú¤­À¢¤ê¤ÏÀ¸¸å15¥ö·îÁ°¸å¤Ë¸«¤é¤ì¾ã³²¤µ¤ì¤¿¶ÚÆù¤Î¶¨Ä´¤Ë´Ø¤¹¤ëÉôʬŪ¤ÊËãá㤬¤æ¤Ã¤¯¤ê¿Ê¹Ô¸å¶ÚÆù¤ÎÎô²½¡¦µ¯Î©º¤Æñ¡£ÓÒÅǤÏ16¥ö·î¡Á21¥ö·î¡¢19¥ö·î¤Çɨ³¸ç§È¿¼Í¤Î¸º¾¯¡¦23¥ö·î¤ÇÈ¿¼ÍÁÓ¼º¡£21¥ö·îº¢Êؼº¶Ø(ç¯æù¤Î¥³¥ó¥È¥í¡¼¥ë¤Ï¤Ç¤­¤ë)¡£ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown *
494 Neuropathy, hypertrophic
*ÈîÂçÀ­¿À·Ð¾ã³²
Íĸ¤»þ¤ÎµÞ®¤Ê¿Ê¹ÔÀ­¤Î¶ÚÎÏÄã²¼¤È´¶³Ð¤Î¾Ã¼º ¥Ë¥å¡¼¥í¥Ñ¥Á¡¼¤Ï¿À·ÐÊÑÀ­¼À´µ¡£¥Ò¥È¤Î°äÅÁÀ­¥Ë¥å¡¼¥í¥Ñ¥Á¡¼­··¿¥Ç¥¸¥§¥ê¥ó-¥½¥Ã¥¿¥¹É¤ÈƱ¤¸¤« ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥Á¥Ù¥¿¥ó¥Þ¥¹¥Á¥Õ
495 Neuropathy, peripheral
Ëö¾¿¿À·Ð¾ã³²¡¢Ëõ¾ÃÀ­¥Ë¥å¡¼¥í¥Ñ¥Á¡¼
¤æ¤Ã¤¯¤ê¤·¤¿¿Ê¹ÔÀ­¤Î¶ÚÎÏÄã²¼¡¢¤ª¤Ü¤Ä¤«¤Ê¤¤Â­¼è¤ê¡¢¶Ú¶ÛÄ¥¡¦¿Ì¤¨¡¦·Ú¤¤Ëãáã¡¢»Í»è¤Î´¶³Ð¿À·Ð¾ã³²¤Ë¤è¤ë¼«½ý¡¢Á´¿È¤Î¿ê¼å 3Ƭ¤Î¥¸¥ã¡¼¥Þ¥ó¥·¥§¥Ñ¡¼¥É¤ÎƱÂÛ·»Ä︤¤¬10ºÐ¤Çȯ¾É¤·¤¿Î㤬¤¢¤ë ¾ïÀ÷¿§ÂÎÀ­¡¢unknown G¥·¥§¥Ñ
496 Neuropathy, sensory
´¶³Ð¥Ë¥å¡¼¥í¥Ñ¥Á¡¼
* Gene: FAM134B
*
AR ¥Ü¡¼¥À¡¼
497 Neuropathy, sensory ataxic
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* Gene: tRNA-Tyr
*
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503 Nystagmus, congenital
ÀèÅ·À­´ã¿¶
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unknown *
513 Optic chiasm, absence of
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514 Optic nerve hypoplasia, bilateral
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520 Osteochondroma causing progressive posterior paresis
*¿Ê¹ÔÀ­¸åÊýÉÔÁ´Ëãáã¤ò°ú¤­µ¯¤³¤¹¹üÆð¹ü¼ð
¸å»è¤ÎæÎÏ¡¢¶ÚÆù¤Î¼ý½Ì¡¢ìì¹Ô¡¢¿Ê¹ÔÀ­±¿Æ°¼ºÄ´ ÊÌ̾¿ȯÀ­Æð¹üÀ­³°¹ü¼ð¾É¡¦°äÅÁÀ­Â¿È¯À­³°¹ü¼ð¾É¡£¤Ä¤Þ¤Å¤­¤Ï¸¤¤¬¼«Ê¬¤Î¼ê­¤Î°ÌÃÖ¤ÎȽÃǤ¬¤Ç¤­¤Ê¤¤¤³¤È¤Çµ¯¤³¤ë¤è¤¦¤À¡£»Ò¸¤¡Á¼ã¸¤»þ¤Ëȯ¾É¤¹¤ë ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥ì¥¤¥¯¥é¥ó¥É¥Æ¥ê¥¢
536 Paresis, posterior
*¸åÉôËãáã
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558 Polioencephalomyelopathy
*³¥ÇòǾÀÔ¿ñ¾ã³²
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567 Polymicrogyria and asymmetrical ventricular dilation
*¿¾®Ç¾²ó¤ÈÈóÂоÎÀ­¤Î¿´¼¼³ÈÄ¥(¿´¼¼Ãæ³ÖÈî¸ü¡©)
¼ºÌÀ¡¢¤±¤¤¤ì¤óȯºî¡¢Êâ¹Ô°Û¾ï Ǿ¤ÎÂçǾÈé¼Á¡Ê´¶³Ð¡¢¿ï°Õ±¿Æ°¡¢»×¹Í¤äµ­²±¤ò¤Ä¤«¤µ¤É¤ëǾ¤ÎÎΰè¡Ë¤Î°Û¾ï¡£³êǾ¾É¤Î°ì¼ï¡£Ç¾²ó¤È¤ÏÂçǾÈé¼Á¤ÎɽÌ̤ˤ¢¤ëǾ¤Î¹Â¤È¹Â¤Î´Ö¤Î»³¡¢Ç¾¤Î¥·¥ï¤Îδµ¯¤·¤¿Éôʬ¡£Â¿¾®Ç¾²ó¤ÏÀµ¾ï¤Ê¤â¤Î¤è¤êǾ²ó¤¬¾®¤µ¤¯¿ô¤¬Â¿¤¤¤â¤Î¡£ventricular dilation¤Ï¿´¼¼³ÈÄ¥¤À¤¬Asymmetric Septal HypertrophyÈóÂоÎÀ­¿´¼¼Ãæ³ÖÈîÂ硣ʡ»³·¿ÀèÅ·À­¶Ú¥¸¥¹¥È¥í¥Õ¥£(ÀèÅ·À­AR)¤Ç¤³¤ÎξÊý¤Î¾É¾õ¤¬¸«¤é¤ì¤ëÎã¤â¤¢¤ë(¶É½êÀ­¤Î¿¾®Ç¾²ó)¡£ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥×¡¼¥É¥ë
569 Polyneuropathy, NDRG1-related
NDRG1´ØÏ¢·¿¡¡Â¿È¯À­¿À·Ð±ê
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¿ȯÀ­¥Ë¥å¡¼¥í¥Ñ¥Á¡¼¡£Ä¹´ü¤ËÅϤ갭²½¤¹¤ëËö¾¿¿À·Ð¾ã³²¤Ë¤è¤ë±¿Æ°´¶³Ð¤ª¤è¤Ó¼«Î§¿À·Ð¾ã³²¡¢2¡Á6¥ö·î¤Î´Ö¤ËºÇ½é¤ÎÃû¸õ¤¬¸«¤é¤ì¤ë¤¬4ºÐ¤Ç¿ÇÃǤµ¤ì¤ëÎã¤â¤¢¤ë¡£áã¤ì¤ëÁ°¸å»è¤ÎÀè¤ÏÄ̾ï¤ÎÄˤߤ¬»Ä¤ë
AR ¥Þ¥é¥ß¥å¡¼¥È¡¢¥°¥ì¥¤¥Ï¥¦¥ó¥É
570 Polyneuropathy, ARHGEF10-related
ARHGEF10´ØÏ¢·¿¡¡Â¿È¯À­¿À·Ð±ê
Êâ¹Ô°Û¾ï¡¢¶ÚÆù¡¦¹üÈס¦»Í»è¤Î°Ñ½Ì Genes: NDRG1
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571 Polyneuropathy, distal sensorimotor
*´¶³Ð±¿Æ°À­±ó°ÌÀ­Â¿È¯¥Ë¥å¡¼¥í¥Ñ¥Á¡¼
Ç˹ԡ¢¤¦¤µ¤®Ä·¤ÓÊâ¹Ô¡¢¥¸¥ã¥ó¥×¤·¤¿¸å¿¿¤Ãľ¤°Î©¤Ã¤Æ¤¤¤é¤ì¤Ê¤¤¡¢Î¾¸å»è¢ªÁ°»è¤Î½ç¤ÇËãáã ¿À·ÐÀþ°Ý¤Î¾Ã¼º¡¢¿À·ÐºÙ˦¤Î»à¡¢¿À·Ð¼þ°Ï»éËÃ¥³¡¼¥Æ¥£¥ó¥°¤Î»¼º¤ÇĹ»þ´Ö¤«¤±¤Æ¶ÚÆù¤¬¾ÃÌפµ¤ì¤ë ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥°¥ì¡¼¥È¥Ç¥ó¡¢¥í¥Ã¥È¡¢¥Þ¥é¥ß¥å¡¼¥È
572 Polyneuropathy, generic
¿ȯÀ­¿À·Ð±ê
»Í»è¤ÎæÎÏ¡¢»Í»èÀèü¤«¤éáã¤ì¡¢¶ÚÎÏÄã²¼(¿©Æ»³ÈÄ¥¤Ë¤è¤ë³±¡¦¿©¸å¤ÎÓÒÅÇ¡¦¿©Êª¤ÎµÕή)¡¢ ¿ȯÀ­¥Ë¥å¡¼¥í¥Ñ¥Á¡¼ AR *
573 Polyneuropathy, GJA9-related
GJA9´ØÏ¢·¿¡¡Â¿È¯À­¿À·Ð±ê
»Í»è¤ÎæÎÏ¡¢»Í»èÀèü¤«¤éáã¤ì¡¢¶ÚÎÏÄã²¼(¿©Æ»³ÈÄ¥¤Ë¤è¤ë³±¡¦¿©¸å¤ÎÓÒÅÇ¡¦¿©Êª¤ÎµÕή)¡¢ ¿ȯÀ­¥Ë¥å¡¼¥í¥Ñ¥Á¡¼
°äÅÁ·Á¼°¤Ï¾ïÀ÷¿§ÂÎÉÔ´°Á´¸²À­¡ÊÍ¥À­¡ËAutosomal Incompletely Dominant
AID *
574 Polyneuropathy, ocular abnormalities and neuronal vacuolation
*»ë³Ð°Û¾ï¤òȼ¤¦¿À·ÐºÙ˦¶õˤÊÑÀ­Â¿È¯¥Ë¥å¡¼¥í¥Ñ¥Á¡¼
¼Ð»ë¡¢ÇòÆâ¾ã¡¢¾®´ãµå¾É¡¦¾®Æ·¹¦¡¦¾®¿å¾½ÂΡ¢¿Ê¹ÔÀ­¤Î½ÅÅ٤α¿Æ°¼ºÄ´¡¢°öƬËãáã¡¢ÊÑÀ¼¡¢ À¸¸å3¡Á6¥ö·îº¢¤«¤é¾É¾õ¤¬¤Ï¤Ã¤­¤ê¤¹¤ë¡£Ä̾ï2ºÐº¢¤Þ¤Ç¤Ë°Â³Ú»¦ÂÐ¾Ý AR ¥í¥Ã¥È¡¢¥Ï¥¹¥­¡¼¡¢¥Ö¥é¥Ã¥¯¥í¥·¥¢¥ó¥Æ¥ê¥¢
575 Polysaccharide storage myopathy/Rhabdomyolysis
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¤È¤¯¤Ë±¿Æ°³«»Ï¸å(Æ°¤­»Ï¤á)¤ÎÇØÃ椫¤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
583 Progressive axonopathy
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602 Quadriplegia and amblyopia
»Í»èËãáãµÚ¤Ó¼å»ë
»Í»è¤ÎËãáã¤È¼å»ë Two cases of hereditary quadriplegia and amblyopia in a litter of Irish setters (±Ñ¸ì) unknown *
627 Scoliosis
ÀÔÄǦ׿¾É
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636 Short spine
*û¤¤ÀÔÄÇ
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641 Spina bifida
ÆóʬÀÔÄÇ
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642 Spina bifida occulta
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* ÀèŷŪÀÔÄÇÌþ¹çÉÔÁ´¤ÇÊĺ¿À­¤ÎÉÂÂÖ unknown *
643 Spinal dysraphism
ÀÔÄÇÌþ¹çÉÔÁ´
* ÀèŷŪ¤ÊÄǵݷÁÀ®ÉÔÁ´¤Ë¤è¤êÀÔÄǤΰìÉô¤¬³«¤¤¤¿¾õÂÖ unknown *
644 Spinal intradural arachnoid cyst
ÀÔ¿ñ¹ÅËìÆâ¡¡¤¯¤âËìǹ˦
* ÀèŷŪ¤ÊÄǵݷÁÀ®ÉÔÁ´¤Ë¤è¤êÀÔÄǤΰìÉô¤¬³«¤¤¤¿¾õÂÖ unknown ¥Ñ¥°
645 Spinal muscular atrophy
ÀÔ¿ñÀ­¶Ú°à½Ì¾É
·ÚÅ٤ǤÏâдݰà½Ì¡¢¥á¥¹²½Æý˼¡¢ÈéÉæÊѲ½¤Ê¤É¥¢¥ó¥É¥í¥²¥óÉÔÁ´¾É¸õ¡£Êâ¹Ôº¤Æñ¡£¿Ê¹Ô¤¹¤ë¤ÈÓë²¼¾ã³²¡¢¸ÆµÛÉÔÁ´¤Ê¤É¤«¤é»àË´¡£*** ÀÔ¿ñ¤ÈǾ´´¤Î¿À·ÐºÙ˦¤¬ÊÑÀ­¤·¤Æ¡¢¿Ê¹ÔÀ­¤Î¶ÚÎÏÄã²¼¤È°à½Ì¤¬µ¯¤³¤ë°äÅÁÀ­¼À´µ¡£µÞÀ­·¿(¿·À¸»ù´ü)¤Ï¥¦¥§¥ë¥É¥Ë¥Ã¥Ò¡¾¥Û¥Õ¥Þ¥óÉ¡£ËýÀ­·¿(À­À®½ÏÁ°)¤Ï¥ô¥©¡¼¥ë¥Õ¥¡¥ë¥È¡¾¥¯¡¼¥²¥ë¥Ù¥ë¥¯¡¾¥ô¥§¥é¥ó¥Ç¥ëÉ¡£´Ë½ù¿Ê¹ÔÀ­¡£
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ñ°ì°äÅÁ»Ò¡£ÎôÀ­??? *
646 Spondylocostal dysostosis, autosomal recessive
ÀøÀ­ÀÔÄÇϾ¹ü°Û¹ü¾É
* * AR ¡ö
647 Spondyloepiphyseal dysplasia, congential type
ÀÔÄǹüü°Û·ÁÀ®¾É¡¢ÀèÅ·À­¤Î¥¿¥¤¥×
* * X-linked ¥Ç¥Ë¥Ã¥·¥å¥¹¥¦¥§¥Ç¥£¥Ã¥·¥å¥Õ¥¡¡¼¥à¥Ï¥¦¥ó¥É
648 Spondylosis deformans
ÊÑ·ÁÀ­ÀÔÄǾɡ¢ÊÑ·ÁÀ­ÀÔÄÇ´ØÀá¾É
* * unknown *
649 Spongiform encephalopathy
³¤ÌʾõǾ¾É
* * unknown *
651 Stenosis, spinal
ÀÔÃì´É¶¹ºõ¾É
* ÀèÅ·À­ÀÔÄÇ´ñ·Á¤Î¤Ò¤È¤Ä
2013/8NEW
unknown *
659 Swimming pup syndrome
¥¹¥¤¥ß¥ó¥°¥Ñ¥Ô¡¼¾É¸õ·²
»Í»è¤¬³°Â¦¤Ë¹­¤¬¤êÊâ¹ÔÉÔǽ µ¯Î©ÉÔǽ¡£»Í»è¤ò¤Ð¤¿¤Ä¤«¤»¤ëÍͻҤ¬¿å±Ë¤Î¤è¤¦¤Ë¶»Éô¤ÇÇç¤Ã¤ÆÆ°¤­À®Ä¹¤¹¤ë¤¬½ÅÅ٤ǤϸƵۺ¤Æñ unknown ¥é¥Ö¡¢¥Ú¥­¡¢¥Ô¥ì¡¢¥³¥Ã¥«¡¼¡¢¥Ü¥¹¥Æ¥ê¡¢¥Ö¡¼¥Ó¥¨
661 Syringomyelia
ÀÔ¿ñ¶õƶ¾É
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665 Tail chasing
ÈøÄɤ¤¹ÔÆ°
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681 Tremor
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682 Tremor syndrome with central axonopathy
*¿¶Àï¾É¸õ·²¤òȼ¤¦Ãæ¿´À­¼´º÷¾ã³²???
* * unknown *
683 Tremor, X-linked
*XÏ¢º¿¿¶Àï
* * X-linked *
692 Various disorders
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* * unknown *


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