¸¤¼ïÊÌ°äÅÁÀ¼À´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 |
---|
38
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60 | 114 | 83 | 6 | 35 | 22 | 30 | 58 | 85 | 79 | 23 | 35 | 15 | 24 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
·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 |
Ǿ¿À·Ð¡¡¡¡¡¡ 114 |
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ÄÌÈÖ | ¼À ´µ ̾ | ¼ç ¤Ê ¾É ¾õ | È÷¡¡¡¡¡¡¡¡¡¡¹Í | °äÅÁ·ÁÂÖ | ¼ç¤Ê³ºÅö¸¤¼ï |
---|---|---|---|---|---|
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 | ¿°ø»Ò | * |
15 |
Alexander disease ¥¢¥ì¥¥µ¥ó¥À¡¼É |
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礤á | ¼ç¤ËAR | ¥Ð¡¼¥Ë¡¼¥º |
22 |
Alzheimer disease ¥¢¥ë¥Ä¥Ï¥¤¥Þ¡¼É |
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¥¢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 |
95 |
Cerebellar abiotrophy ¾®Ç¾À¥¢¥Ó¥ª¥È¥í¥Õ¥£¡¼ |
Â礤¤ÊâÉý¤È¤®¤³¤Á¤Ê¤¤Êâ¤Êý¡¢Æ¬Éô¤È¸òº¹¤¹¤ë¤ο¶Àï¡¢¼ãÎð»þ¤Î¸å¤α¿Æ°¼ºÄ´¡¢¿©»öÃæ¤ÎƬÉô¿¶Àï |
Gene: SPTBN2 abiotrophy¤ÏºÙ˦¤äÁÈ¿¥¤Î»àÌÇ¤Î°Õ ¥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 |
¶¨Ä´±¿Æ°¼ºÄ´¡¢Æ¬Éô¤Î¾®¹ï¤ß¤Ê¿Ì¤¨¡¦Íɤ졢¿¶¤ê»Ò´ã¿Ì |
ÀÔ¿ñ¾®Ç¾ÊÑÀ¾É¤ÎÃæ¤Ç¼ç¤Ë¾®Ç¾¤ËÊÑÀ¤ò¼¨¤¹¼À´µ¤ÎÁí¾Î¡£ ¶¨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 ¶¯Ç÷¾ã³² |
¾É¾õ¤Î½Å¤¤¾ïƱ¹ÔÆ° | Ý£¤ÎÃæ¤ËÊĤ¸¹þ¤á¤é¤ì¤¿¡Ê¼ç¤Ë¥¤¥Ì²Ê¤Î¡Ëưʪ¤¬°ÕÌ£¤âÌÜŪ¤â¤Ê¤¯º¸±¦¤Ë¤¦¤í¤Ä¤²ó¤ë¤è¤¦¤Ê¹ÔÆ°¤Î¤³¤È¡£Àµ¾ï¤Ê¸¤¤ÈÈæ¤Ù¤ÆǾ¤Î°ã¤¤¤¬Æù´ã¤Ç³Îǧ¤Ç¤¤ëÅÀ¤â¤¢¤ë¤È¤« | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥É¡¼¥Ù¥ë¥Þ¥ó |
167 |
Degenerative encephalopathy ÊÑÀǾ¾É |
¿ç̲Ãæ¤Î¹ÔÆ°¾ã³²¡¢Êâ¹Ô¾ã³² |
ºÇ½é¤ÎÎ×¾²Ãû¸õ¤ÏÀ¸¸å2¥õ·î¤«¤é5ºÐ¤ÈÉý¹¤¤¡£¿ç̲Ãæ¤Î´ãµå±¿Æ°¤¬µÞ®¡¢ÂΤÎÆ°¤¡Ê¿²Áê¡Ë¡¦¥Ó¥¯¤Ä¤¤¬Â礤¤¡¢¤È¤¤¤Ã¤¿Àµ¾ï¤È¤Î¶Ìܤ¬¤ï¤«¤ê¤Ë¤¯¤¤¾É¾õ¤«¤é»Ï¤Þ¤ë¤è¤¦¤À¡£Âà¹ÔÀǾ¾É¤¬¿Ê¹Ô¤·Áû²»¶²ÉݾɤäÊâ¹Ô°Û¾ï¤Ë¤Ä¤Ê¤¬¤ë¡£ÉÂÍýŪ¤Ë¤Ï³¥Çò¼ÁÊÑÀ¤Ë³¤¯²õ»à¡©¡© ¥Ò¥È¤Î¥Ñ¡¼¥¥ó¥½¥óɤʤɤˤߤé¤ì¤ë¡Ö¥ì¥à¿ç̲¹ÔÆ°¾ã³²¡×¤¬É¾õÇÄ°®¤ËÌòΩ¤Ä¤«¤â¤·¤ì¤Ê¤¤ |
unknown¡¢AR | ¥Î¥Ð¥¹¥³¥·¥¢ |
168 |
Degenerative myelopathy ÊÑÀ¥ß¥¨¥í¥Ñ¥Á¡¼ |
¸å»è¤Î¹Ã¤ò°ú¤À¢¤Ã¤ÆÊ⤯¡¢¸å»è¤¬¤â¤Ä¤ì¤ë¡¢¥ª¥¹¥ï¥ê¤¹¤ë¤È¸å»è¤¬²£¤Ë³«¤¯¡¢¤æ¤Ã¤¯¤ê½ù¡¹¤ËÄˤߤÎ̵¤¤¸å»è¤ÎËãá㤬¿Ê¹Ô¡¢Êâ¹Ôº¤Æñ |
Genes: SOD1 Âà¹ÔÀÀÔ¿ñ¾É¡£¥ß¥¨¥í¥Ñ¥Á¡¼¤ÏÀÔ¿ñ¤Î°µÇ÷Åù¤Ë¤è¤ëÀÔ¿ñµ¡Ç½¾ã³²¡£ ´ôÉìÂç³Ø±þÍÑÀ¸Êª²Ê³ØÉô½Ã°å³Ø²ÝÄøÎ×¾²Êü¼ÍÀþ³Ø¸¦µæ¼¼¤È¼¯»ùÅçÂç³ØÇÀ³ØÉô½Ã°å³Ø²ÊÎ×¾²ÉÂÍý³Ø¸¦µæ¼¼¤È¤Î¶¦Æ±¸¦µæ¤Ç¾ò·ïÉÕ¤°äÅÁ»Ò¸¡ºº¼Â»Ü&¸¥ÂΤΤª´ê¤¤(2017ǯ¸½ºß)http://www.animalhospital.gifu-u.ac.jp/vet/dm.html ¡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 ³°Êĺ¿¶ÚÊÑÀ¥ß¥ª¥Ñ¥Á¡¼ |
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 ȯºîÀ¥¸¥¥¹¥Í¥¸¥¢ |
¤Ê¤ó¤é¤«¤Î±¿Æ°¡Ê¹ÔÆ°¡Ë¤ËͶȯ¤µ¤ì¤ë°Õ¼±¤Î¤¢¤ëȯºî | ȯºîÀ±¿Æ°Í¶È¯À¥¸¥¹¥¥Í¥¸¥¢¡£¥¸¥¹¥¥Í¥¸¥¢=(¥Ñ¡¼¥¥ó¥½¥óɤʤɤÎ)ÉÔ¿ï°Õ±¿Æ°¡£¤Ê¤Ë¤«¤Ë¶Ã¤¤¤¿»þ¤äºÂ¤Ã¤¿¾õÂÖ¤«¤éΩ¤Á¾å¤¬¤ë¤Ê¤É¤ÎÆü¾ï¤Î´Êñ¤Ê±¿Æ°¤Ë¤âͶȯ¤µ¤ì¤ë¡£Î̤ò¸º¤é¤·¤¿¹³¤Æ¤ó¤«¤óÌô¤ÇÂоɼ£ÎÅ²Ä | unknown | * |
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 ÎÉÀ²È²À¼ãǯÀ¤Æ¤ó¤«¤ó |
¤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 ȯºîÀžÅÝ |
¶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 |
·ã¤·¤¤±¿Æ°¸åȯǮ¡¢²¼È¾¿È¤Îµõæ¡¢áÛÚ»¡£¤Þ¤ì¤Ë»àË´ |
Genes:DNM1 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 ´ÎÀǾ¾É |
¿ç̲¥ê¥º¥à¤ÎµÕž¡¢¿Ì¤¨¡¢°Õ¼±¤Îº®Âù¡¦¾Ã¼º | ´ÎÉÔÁ´¤Ë¤è¤ëÂå¼ÕÉÔÁ´¤¬µ¯¤³¤¹Àº¿À¿À·Ð¾É¾õ | * | * |
290 |
Hepatic encephalopathy, portosystemic ÌçÌ®Âν۴ÄÀǾ¾É |
´ÎÀǾ¾É»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 ¥Û¥ë¥Í¥ë¾É¸õ·² |
ðôÉô¸ò´¶¿À·Ð½ÐÎϤε¡Ç½ÉÔÁ´¤Ë¤è¤ë´ãâÛ²¼¿â¡¢½ÌÆ·¡¢´ãµå´ÙËס¢ÆúºÌ°Û¿§¾É | ½ÌÆ·¤ÏÆ·¹¦¤¬²áÅ٤˽̾®¤¹¤ë¸½¾Ý¡¢Æ·¹¦¤Ï°Å°Ç¤Î²¼¤Ç¤â²áÅ٤˶¹¤Þ¤Ã¤¿¤Þ¤Þ¡£´ãâÛ²¼¿â¤Ï¾å¤Þ¤Ö¤¿¤Îµ¡Ç½¤Ë¾ã³²¤¬À¸¤¸âÛ¤¬³«¤¤Ë¤¯¤¯¤Ê¤ë(1Æü¤Î¤¦¤Á¤Ç¾É¾õ¤Ëº¹¤¬¤¢¤ë)¡¢»ë³¦¤ÎÀ©¸Â¤ò̵°Õ¼±¤ËÄ´À°¤¹¤ë¤¿¤á¥Ò¥È¤Ç¤ÏƬÄˤ个¤³¤ê¤òµ¯¤³¤¹¤³¤È¤¬Â¿¤¤¡£ | * | * |
309 |
Hydranencephaly ¿å̵Ǿ¾É |
ÂçǾ¤¬Ìµ¤¤ |
Ä̾ï¤ÏÀ¸Â¸ÉÔǽ Ƭ³¸¡Ê¹ü¡Ë¤¬Àµ¾ï¤Ç¤¢¤ì¤Ðñ¤Ë¸¶°øÉÔÌÀ¤Îή»à»º¤ä¿·À¸»Ò»àË´¤È¤Ê¤ë¤À¤í¤¦¡£Î¾ÂçǾȾµå¤¬¤Û¤Ü´°Á´¤Ë·ç»¤¹¤ë¹¦Ç¾¾É¤Î¶Ëü¤Ê1¤Ä¤ÎÉ·¿ |
unknown | * |
310 |
Hydrocephalus ¿åƬ¾É |
ƬÈîÂ硢Ǿ¤Î°µÇ÷¡¢ÀèÅ·À¤Î¾ì¹ç¤Ï¤Û¤È¤ó¤É¤¬Àµ¾ï¤ËÀ®Ä¹¤·¤Ê¤¤ | Ǿ¤ÎÃæ¤Î¶õ´Ö(Ǿ¼¼)¤Çºî¤é¤ì¤¿Ç¾ÀÔ¿ñ±Õ(Ǿ¤Î¼þ°Ï¤Ë¤¢¤ë±ÕÂΤǷì±Õ¤ËµÛ¼ý¤µ¤ì¤ë)¤¬ËÜÍè¤Î¾ì½ê¤Ëή¤ì¤Ê¤¤¤³¤È¤Çµ¯¤³¤ë¡£¥Ò¥È¤Ç¤Ï¥·¥ã¥ó¥È¼ê½Ñ¤¬¤ª¤³¤Ê¤ï¤ì¤ë¤³¤È¤¬Â¿¤¤¤¬¸½ºß¸¤¤ÏÂнèÎÅË¡(¥Æ¥ó¥«¥ó¤òÍÞ¤¨¤ë¤Ê¤É)¤¬¼çή | * | * |
311 |
Hydrocephalus, internal Æâ¿åƬ¾É |
Ʊ¾å | Ǿ¼¼Æâ¤Ë²á¾êÃùα¤·¤¿¾ì¹ç¤òÆâ¿åƬ¾É¡¢ÂçǾɽÌÌ ¤Ë²á¾êÃùα¤·¤¿¾ì¹ç¤ò³°¿åƬ¾É¤È¤¤¤¦¡£ | * | * |
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 |
¼«Ê¬¤Î°Õ»×¤È¤Ï̵´Ø·¸¤Ë¤ª¤³¤ëÉÔ¿ï°Õ±¿Æ°¢ª¿¶Àï(¿Ì¤¨)¡¢¼Ððô¡¢Ê⤯¤È¤¤Ë¼Ð¤á¤Ë¤Ê¤ë¡¢¸ý¤ò¥â¥°¥â¥°¥¯¥Á¥ã¥¯¥Á¥ã¡¢ÉÑÈˤʥӥ¯¤Ä¤¤Ê¤É | ¥¹¥³¥Ã¥Á¥¯¥é¥ó¥×Scottie cramp | * | * |
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´ |
°Û¾ï¹ÔÆ°¡¢ÀÝ¿©¾ã³²¡¢Âβ¹Ä´Àá¾ã³²¡¢ÆâʬÈ絡ǽ¤È¼«Î§¿À·Ðµ¡Ç½¤Ë¾ã³² | 93ǯ¥¢¥á¥ê¥«Æ°ÊªÉ±¡¶¨²ñ»ï¤Ë»ë¾²²¼Éôµ¡Ç½ÉÔÁ´¤Î¸¤¤Ë¹â¥Ê¥È¥ê¥¦¥à·ì¾É¡¢Ìµ°û¾É¡¢¤ª¤è¤ÓÅüÇ¢ÉÂÇ¢Êø¾É¤¬¸«¤é¤ì¤¿¤È¤¤¤¦¾ðÊ󤬤¢¤ë¤é¤·¤¤ | unknown | * |
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¡£ ¶Ú°à½ÌÀ¦º÷¹Å²½¾É(ALS¡§¥ë¡¼¡¦¥²¡¼¥ê¥Ã¥¯É¡¤¥·¥ã¥ë¥³¡¼¾É¸õ·²)¡¢¿Ê¹ÔÀ¶Ú°à½Ì¾É¡¢¸¶È¯À¦º÷¹Å²½¾É¡¢¿Ê¹ÔÀµåËãáã¡¢¿Ê¹ÔÀ²¾ÀµåËãáã |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥µ¥ë¡¼¥ |
416 |
Motor neuron disease, lower ²¼°Ì±¿Æ°¿À·Ð(¥Ë¥å¡¼¥í¥ó)¼À´µ |
Óë²¼¾ã³²¡¢´éÌ̤Ȼͻè¤Î¶Ú¤±¤¤¤ì¤ó¡¢¶ÚÎÏÄã²¼ | ²¼°Ì¥Ë¥å¡¼¥í¥ó¼À´µ¤Î¶ÚÎÏÄã²¼¤Ï¾É¾õ¤¬¥ß¥ª¥Ñ¥·¡¼¤È»÷¤ë¤¬ÊÌ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ö¥ê¥å¥Ã¥»¥ë¥°¥ê¥Õ¥©¥ó |
430 |
Multiple system degeneration ¿ȯÀ¹Å²½¾É |
ÉÂÊѲսê¤Ë¤è¤Ã¤Æ¾É¾õ¤ÏÍÍ¡¹¤Ç¡¢»ëÎÏÄã²¼¡¦»ëÌî·ç»(»ë¿À·Ð)¡¢´ã¿¶¡¦Ê£»ë(Ǿ´´Éô)¡¢Êâ¹Ô¤Î¤Õ¤é¤Ä¤¡¦ºÙ¤«¤¤¿Ì¤¨(¾®Ç¾)¡¢»Í»è¤Îáã¤ì¡¦ÇÓÇ¢¾ã³²¡¦Ç¢¼º¶Ø(ÀÔ¿ñ)¡¢¥Ñ¡¼¥¥ó¥½¥óÉÂÍͤÎÉÂÂÖ |
¿ȯÀÃæ¿õ¿À·ÐÊÑÀ¡£ÀÔ¿ñ¾ã³²¤Î²óÉü´ü¤ËÍÄËÀ¶¯Ä¾ÀáÛÚ»(¤Æ¤ó¤«¤ó¤È´ÕÊÌ)¤¬¸«¤é¤ì¤ë¡£Î¬¾ÎCMSD(MSD)¡£³°æõÍÕ°Û·ÁÀ®¤È¤â´ØÏ¢?? ¿ÇÃǤÏMRI¡¢ÉÂÊÑÉô¤¬Ç¾¤Ç¤¢¤ì¤ÐǾÀÔ¿ñ±Õ¤Î±ê¾É¤ÎÍ̵(¹øÄÇÀü»É)¡£ |
AR |
¥±¥ê¡¼¥Ö¥ë¡¼ ¥Á¥ã¥¤¥¯¥ì |
444 |
Myclin defect *¿ñ¾ä·ÁÀ®ÉÔÁ´ |
* | ¤º¤¤¤È¤µ¤ä¡¢¿ñ¾ä¢Îmyelin¡¢myclin | unknown | * |
446 |
Myelopathy ¥ß¥¨¥í¥Ñ¥Á¡¼¡¢ÀÔ¿ñ¾É |
¤Þ¤Ò¤ä¤·¤Ó¤ì¡¢´¶³Ð¾ã³²¡¢±¿Æ°¾ã³²¡¢ÇÓÇ¢¾ã³²¡¢Êâ¹Ô¾ã³² | ÀÔ¿ñ¤Î°µÇ÷Åù¤Ë¤è¤ëÀÔ¿ñµ¡Ç½¾ã³²¤ÎÁí¾Î | unknown | * |
448 |
Myoclonus epilepsy of Lafora ¥é¥Õ¥©¥éɤΥߥª¥¯¥í¡¼¥Ì¥¹â¡áò |
¤Æ¤ó¤«¤óȯºî |
Gene: NHLRC1 ȯºî¤Ï¤·¤Ð¤·¤Ð¼þ°Ï¤Î²»¤ä¸÷¤Ê¤É³°Éô»É·ã¤ËͶȯ¤µ¤ì¤ë¡£¿Ê¹ÔÀ¥ß¥ª¥¯¥í¡¼¥Ì¥¹¤ÈÆñ¼£À¤Æ¤ó¤«¤ó¤òȼ¤¦°äÅÁÀ¿À·ÐÊÑÀ¼À´µ¡£¿´¶Ú¤ÎÊÑÀ¤ä´Î¡¡¦ç£Â¡¤Ë²á¥è¥¦ÁÇ»À¥·¥Ã¥ÕÍÛÀʪ¼Á¤ÎÄÀÃå¡£ ¥ß¥ª¥¯¥í¡¼¥Ì¥¹¤ÏÉÔ¿ï°Õ¤ËȯÀ¸¤¹¤ë¹ü³Ê¶Ú¼ý½Ì |
AR | * |
460 |
Narcolepsy ¥Ê¥ë¥³¥ì¥×¥·¡¼¡¢¿ç̲ȯºî |
¶¯¤¤Ì²µ¤¤Îȯºî¤ò¼ç¤Ê¾É¾õ¤È¤¹¤ëǾ¼À´µ¡£Ã¦ÎϤ·¤¿¤À¤±¤Ë¸«¤¨¤ë¥±¡¼¥¹¤â¤¢¤ë¡£ |
Genes:HCRTR2 °äÅÁ»Ò¸¡ºº¥¢¥ê |
AR | ¥À¥Ã¥¯¥¹Â¾Â¿ |
463 |
Necrotising encephalopathy, subacute, of Leigh *°¡µÞÀ²õ»àÀǾÀÔ¿ñ±ê¡¢¥ê¡¼¾É¸õ·² |
Àº¿À±¿Æ°È¯Ã£Ãٱ䡢Âà¹Ô¤òµ¯¤³¤¹¡£·ìÃæ¡¢¿ñ±ÕÃæ¤ÎÆý»À¡¢¥Ô¥ë¥Ó¥ó»À¤ÎÇ»ÅÙ¤¬¹â¤¤¤³¤È¤¬Â¿¤¤(Wikipedia)¡£ | ¥ê¡¼Ç¾¾É¡£°¡µÞÀ¤È¤ÏµÞÀ(¾É¾õ¤¬½Ð¤Æ¤«¤éµÞ·ã¤Ë°²½¤¹¤ë¤È¤¤¤Ã¤¿°ÕÌ£)¤ÈËýÀ(ÇȤ¬Â礤¯¤Ê¤¯Ä¹¤¯¤«¤«¤Ã¤Æ¤·¤Þ¤¦¤È¤¤¤Ã¤¿°ÕÌ£)¤ÎÃæ´Ö¤È¤µ¤ì¤ë¡£ | ¥ß¥È¥³¥ó¥É¥ê¥¢ | * |
464 |
Necrotising myelopathy *²õ»àÀ¥ß¥¨¥í¥Ñ¥Á¡¼ |
½é´ü¾É¾õ¤È¤·¤Æ¹Í¤¨¤é¤ì¤ë¤â¤Î¤Ï¤·¤Ó¤ì¤ä´¶³Ð¡¦Êâ¹Ô¾ã³²¡¢¼¡¤¤¤ÇÇÓÇ¢ÇÓÊØ¡¦³Æ¼ï±¿Æ°¾ã³² | ²õ»à¤È¤ÏÂΤΰìÉôʬ¤ò¹½À®¤¹¤ëºÙ˦¤À¤±¤¬»àÌǤ·¤½¤ÎÉôʬ£Ëµ¡Ç½¤¬Äã²¼(¤â¤·¤¯¤ÏÉÔÁ´)¤È¤Ê¤ë¤³¤È¤Ç¡¢¥ß¥¨¥í¥Ñ¥Á¡¼¤ÏÀÔ¿ñ¤Î°µÇ÷Åù¤Ë¤è¤ëÀÔ¿ñµ¡Ç½¾ã³²¤ò»Ø¤¹¡£ | unknown | * |
465 |
Necrotizing meningoencephalitis ²õ»àÀ¿ñËìǾ±ê |
¤±¤¤¤ì¤óȯºî¤È»ëÎϾ㳲¤ä¼ºÌÀ¡¢Àû²ö¤ä¼Ð·Û¤Ê¤É¤Î½ÅÆƤʿÀ·Ð¾É¾õ¡£Âçȯºî¤ä°Â³Ú»à½èʬ¤Ç»àË´ | ¥Ñ¥°Ç¾±ê¡¡¸¤¤Î²õ»àÀ¿ñËìǾ±ê¡Ê¥Ñ¥°Ç¾±ê¡Ë¤ÎÉÂÂÖ²òÀÏ | unknown |
¥Ñ¥° ¥Þ¥ë¥Á¡¼¥º ¥Á¥ï¥ï |
466 |
Neonatal encephalopathy with seizures *¤±¤¤¤ì¤óȯºî¤òȼ¤¦¿·À¸»ùǾ¾É |
À¸¤Þ¤ì¤¿¤Æ¡ÁÀ¸¸å¿ô½µ´Ö¤Ë¤±¤¤¤ì¤óȯºî¡¢Áá´ü»àË´ |
Genes: ATF2 Ǿ¾É¤È¤Ï¹µÁ¤Ë¤ÏǾ¾ã³²¤¬µ¯¤³¤ëɵ¤¤¹¤Ù¤Æ¤ò»Ø¤¹¡£ |
AR | * |
474 |
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¤ÎÆ°²è¡¡http://www.pet-honpo.com/cap/sinkeikakuron/dai2kaipeji.html |
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 ¡ö¡ö¡ö¿À·ÐÊÑÀ |
* |
¡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 AR¤« |
E¥Ý¥¤¥ó¥¿¡¼ |
479 |
Neurological syndrome ¿À·ÐÀ¾É¸õ·² |
¾®Ç¾¾É¾õ |
À¸¸å3¡Á4½µ¤Çȯ¾É¡¢¼Ð·Û¡¢ÀéĻ¡¢»ÑÀª¤¬·ø¤¤¡¢Æ¬¤¬Ä㤤°ÌÃ֤ˤ·¤«»ý¤Á¾å¤¬¤é¤Ê¤¤¡¢ÈáÌÄ¡¢¶Ú¶ÛÄ¥¤ÎÁÓ¼º¡¡¢ª¡¡À¸¸å5¡Á6½µ¤Ç¿²¤¿¤¤ê 2013/9NEW |
AR | G¥»¥Ã¥¿¡¼ |
480 |
Neuronal abiotrophy ¿À·ÐºÙ˦¥¢¥Ó¥ª¥È¥í¥Õ¥£ |
µÞ®¤Ë¿Ê¹Ô¤¹¤ë»Í»èÁ´Éô¤ÎËãáã¡¢»Í»è¤ÈƬÉô¤Î¿¶Àï¡¢µ¯Î©ÉÔǽ¤Î¸åÆó¼¡Åª¼À´µ¤ä´¶À÷¾É¤Ç»àË´ | ÊÌ̾¥¦¥§¥ë¥É¥Ë¥Ã¥Ò¥Û¥Õ¥Þ¥óÉ¡¢¥¢¥Ó¥ª¥È¥í¥Õ¥£¤ÏºÙ˦³èÎÏ¿êÈù(ľÌõ¤¹¤ë¤È̵À¸³èÎÏ)¡£¿À·ÐºÙ˦¤ÎµÞ®¤ÊÏ·²½¤äÊÑÀ¤¬¸¶°ø | unknown | ¥±¥ê¡¼¥Ö¥ë¡¼¥Æ¥ê¥¢ |
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¡× |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥í¥Ã¥È |
492 |
Neuronopathy, progressive ¿Ê¹ÔÀ¿À·ÐºÙ˦¾ã³² |
¸å»è¤¬¼å¤¤¡¢»Í»è¤ÎæÎÏ¡¢Å¾ÅÝ¡¢Êâ¹Ô¾ã³² | ÊÌ̾¿·ÏÅýÀ÷¿§¼ÁÍϲò¿À·ÐÊÑÀ¡£ÀÔ¿ñ¤ÈǾ¤ÎÎΰè¤Ë±Æ¶Á¤òÍ¿¤¨¤ë¿À·ÐºÙ˦¤Î¾ã³²¡£À¸¤Þ¤ì¤Ä¤È¯¾É¤·¤Æ¤¤¤Æ±¿Æ°Î̤¬Áý¤¹À¸¸å12¡Á14½µº¢¤Ë¶ÚÆù³èÆ°¤ÎÄ´À°¤¬¤Ç¤¤Ê¤¤¤³¤È¤Ëµ¤ÉÕ¤¯¡¢¿ô½µ´Ö¡Á¿ô¥ö·î»Í»è¤ÎæÎϤ¬µ¯¤³¤ë¤³¤È¤â¤¢¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥±¥¢¥ó¥Æ¥ê¥¢ |
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 ´¶³Ð¼ºÄ´À¥Ë¥å¡¼¥í¥Ñ¥Á¡¼ |
* |
Gene: tRNA-Tyr * |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥´¡¼¥ë¥Ç¥ó |
503 |
Nystagmus, congenital ÀèÅ·À´ã¿¶ |
¼«Ê¬¤Î°Õ»×¤È¤Ï´Ø·¸¤Ê¤¯´ãµå¤¬Æ°¤¯¸½¾Ý |
´ã¿¶¤ÎÊý¸þ¤ò´ð½à¤È¤¹¤ë¤È¿åÊ¿À¡¢¿âľÀ¡¢²óÀûÀ´ã¿¶¤ËʬÎव¤ì¡¢´ãµå¤Î±ýÉü±¿Æ°¤ÎÍͼ°¤ò´ð½à¤Ë¤¹¤ë¾ì¹ç¤Ë¤Ï¿¶»ÒÍʹ㿶¡Ê°ìÄê®Å٤ǿ¶»Ò¤Î¤è¤¦¤Ê±ýÉü±¿Æ°¤ò¤¹¤ë¡Ë¡¢
¾×Æ°À´ã¿¶¡Ê°ìÊý¤Ø´Ë¤ä¤«¤ËÆ°¤¡¢Â¾Êý¤Ø¤Ï®¤¯Æ°¤¯¡Ë¤Ëʬ¤±¤ë¤³¤È¤¬¤Ç¤¤ë¡£ ¿âľÀ´ã¿¶¤Ë¤ª¤¤¤ÆÈæ³ÓŪÉÑÅ٤ι⤤²¼´ãâÛ¸þ¤´ã¿¶¤ÎÉÂÁã¶Éºß¿ÇÃǤϲ¼ÉôǾ´´¤È¤µ¤ì¡¢¥¢¡¼¥Î¥ë¥É¡¦¥¥¢¥ê´ñ·Á¡¢ÀÔ¿ñ¾®Ç¾ÊÑÀ¾É¤Ê¤É¤Çǧ¤á¤é¤ì¤ë¡£ |
unknown | * |
513 |
Optic chiasm, absence of *»ë¿À·Ð¸òº¹·ÁÀ®ÉÔÁ´?? |
»ëÎϾ㳲¡¢¿å¾½Âκ®Âù¡¢¼ºÌÀ | ÌÖËì¤ÏÀµ¾ï¤Ê¤Î¤Ç¿ÇÃǤ¬Æñ¤·¤¤¤é¤·¤¤ | AR | B¥·¥§¥Ñ¡¢A¥³¥Ã¥«¡¼¡¢¥Ó¡¼¥°¥ë¡¢¥³¥ê¡¼¡¢E¥¹¥×¥ê¥ó¥¬¡¼¡¢G¥·¥§¥Ñ¡¢¥´¡¼¥ë¥Ç¥ó¡¢¥¤¥¿¥°¥ì¡¢¥×¡¼¥É¥ë¡¢¥·¥§¥ë¥Æ¥£ |
514 |
Optic nerve hypoplasia, bilateral *ξ¦À»ë¿À·Ð·ÁÀ®ÉÔÁ´ |
»ëÎϾ㳲¡¢¼ºÌÀ | ·ÁÀ®ÉÔÁ´¤Þ¤¿¤Ïȯ°éÉÔÁ´ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | A¥³¥Ã¥«¡¼¡¢¥Ó¡¼¥°¥ë¡¢¥³¥ê¡¼¡¢¥À¥Ã¥¯¥¹¡¢E¥¹¥×¥ê¥ó¥¬¡¼¡¢G¥·¥§¥Ñ¡¢¥´¡¼¥ë¥Ç¥ó¡¢¥¤¥¿¥°¥ì¡¢¥×¡¼¥É¥ë¡¢¥·¥§¥ë¥Æ¥£ |
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¡¦°äÅÁÀ¿ȯÀ³°¹ü¼ð¾É¡£¤Ä¤Þ¤Å¤¤Ï¸¤¤¬¼«Ê¬¤Î¼ê¤ΰÌÃÖ¤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 |
¸å»è¤Î¤Þ¤Ò | Ãæ¿õ¿À·Ð·Ï¡¢µÞÀ¸åÉô¡Ê²¼È¾¿È¡Ë¤Þ¤Ò¡£ÀÅÌ®¤Þ¤¿¤ÏÆ°ÀÅÌ®ºÉÀò¤Ë¤è¤ë²õ»àÀÀÔ¿ñ¾É¡¢µõ·ìÀÀÔ¿ñ¾ã³²¡¢Í½¸åÉÔÎÉ | unknown | * |
558 |
Polioencephalomyelopathy *³¥ÇòǾÀÔ¿ñ¾ã³² |
¤±¤¤¤ì¤óȯºî¡¢»Í»è¤Î¤³¤ï¤Ð¤ê¡¢¿Ê¹ÔÀ±¿Æ°¼ºÄ´¡¢Á°»è¤ÎæÎÏ | ³¥Çò¼Á¤Ë±Æ¶Á¤òÍ¿¤¨¤ëÊÑÀ¼À´µ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | A¥¥ã¥È¥ë¥É¥Ã¥°¡¢¥·¡¼¥º¡¼ |
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 |
»Í»è¤ÎæÎÏ¡¢»Í»èÀèü¤«¤éáã¤ì¡¢¶ÚÎÏÄã²¼(¿©Æ»³ÈÄ¥¤Ë¤è¤ë³±¡¦¿©¸å¤ÎÓÒÅÇ¡¦¿©Êª¤ÎµÕή)¡¢ |
Genes: NDRG1 ¿ȯÀ¥Ë¥å¡¼¥í¥Ñ¥Á¡¼¡£Ä¹´ü¤ËÅϤ갲½¤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 ¥·¥ã¥ë¥³¡¼¡¦¥Þ¥ê¡¼¡¦¥È¥¥¡¼¥¹É¡£±¿Æ°ÉÔÂÑÀ¡¢Êâ¹Ô°Û¾ï¡¢¹üÈס¦¼ê¤ζÚÆù¤Î°à½Ì¡¢µÛµ¤ÀÓÃÌĤä¸ÆµÛº¤Æñ¤òÆÃħ¤È¤¹¤ë½ÅÅ٤μãǯȯ¾É¡¢ËýÀ¡¢¿Ê¹ÔÀ¤ª¤è¤Óº®¹ç¿ȯÀ¿À·Ð¾ã³² |
¤¿¤Ö¤óAR | ¥ì¥ª¥ó¡¢¥»¥ó¥È¥Ð¡¼¥Ê¡¼¥É |
571 |
Polyneuropathy, distal sensorimotor *´¶³Ð±¿Æ°À±ó°ÌÀ¿ȯ¥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˦¶õˤÊÑÀ¿ȯ¥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 ¿ÅüÎàÃù¢¶Ú¾É/²£Ìæ¶ÚÍ»²ò¾É |
¤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 *¿Ê¹ÔÀ¼´º÷¾ã³² |
ǾÀÔ¿ñ¤Î¼ð¤ì¤Ë¤è¤ë¸å»è¤Î¥Ð¥é¥ó¥¹´¶³Ð¤ÎÁÓ¼º |
ÊÌ̾¥Ü¥¯¥µ¡¼¥Ë¥å¡¼¥í¥Ñ¥Á¡¼¡¦¥Ü¥¯¥µ¡¼Ãæ±ûËö¾¿¿À·Ð¾ã³²¡£À¸¸å1¡Á6¥ö·î¤Þ¤Ç¤Ë¤Ï¾É¾õ¤¬½Ð¤ë¡¢¸å»è¤Î̵¶¨Ä´¤ÏÁ°»è¤Ø¿Ê¹Ô¡¢À¸Ì¿¤ËÊ̾ò¤Î̵¤¤¥±¡¼¥¹¤¬Â¿¤¤¡£ ¼´º÷(¤¸¤¯¤µ¤¯)¤È¤Ï ¿À·ÐºÙ˦Æ͵¯¤Î¤¦¤Á¤ÎºÇ¤âŤ¤Æ͵¯¤Ç¡¢Â¾¤Î¿À·ÐºÙ˦¤È¤Î¥¤¥ó¥Ñ¥ë¥¹¤ÎÅÁƳ¤ò¹Ô¤¦Éôʬ¡¢¿À·ÐºÙ˦(½ÐÎϤòôÅö¤¹¤ë)¡£ |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ü¥¯¥µ¡¼ |
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 |
Çعü¤¬¿¿¤Ãľ¤°¤Ç¤Ê¤¤¡¢·Ñ³Ū¤ÊÄˤߡ¢¸å»è¤ÎËãáã¤äÇÓÝõ¾ã³² | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
636 |
Short spine *û¤¤ÀÔÄÇ |
¾¯¤Ê¤¤Çعü¡¢¤Í¤¸¤ìÈø¡¢æêÌ糫¸ýÉô¤Î·¹¼Ð¡¢³°¸þ¤¤Îɪ¡¦¤Ò¤¶´ØÀá | ÀÔÃì¤äÄǹü¤Î°µ½Ì¤Ë¤è¤ëÇعü¤Î¿¼¹ï¤Êû½Ì¤Ç¡¢¤«¤ï¤ê¤Ë¹Å²½¤·¤¿Æð¹ü¤ò»ý¤Ä¾ì¹ç¤â¤¢¤ë¡£¼÷Ì¿¤ÏÈæ³ÓŪÀµ¾ï¤À¤¬Ï¾¹ü¤Î¿ô¤Ë¤è¤ê¶»³Ô¤Ë±Æ¶Á¤¬½Ð¤ë¾ì¹ç¤â¤¢¤ë | unknown | * |
641 |
Spina bifida ÆóʬÀÔÄÇ |
ȯÀ¸Éô°Ì¤«¤é²¼¤Î±¿Æ°µ¡Ç½¤ÈÃγФ¬Ëãáã¡£¿åƬ¾É¡¢»Í»è¤ÎËãáã¤äÊÑ·Á¡¢ç¯æù¡¦Ä¾Ä²¾ã³²¤Ë¤è¤ëÇÓÝõ¾ã³² | ÀÔÄǹü¤ÎÀèŷŪ¤Ê·ÁÀ®ÉÔÁ´¡£ÀÔ¿ñ¤¬ÀÔÄǤγ°¤Ë½Ð¤ÆÌþÃå¤ä»½ý¤·¤Æ¤¤¤ë¤¿¤á¤Ëµ¯¤³¤ëÍÍ¡¹¤Ê¿À·Ð¾ã³²¡£¼ç¤ËÀçÄÇ¡¢¹øÄǤËȯÀ¸¡¢µ©¤Ë¶»ÄÇ¡¢·ÛÄǤˤâÀ¸¤¸¤ë¡£ | unknown | * |
642 |
Spina bifida occulta ÀøºßÀÆóʬÀÔÄÇ |
* | 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¡£
»²¹Í¡§¥Ò¥È¢ªµåÀÔ¿ñÀ¶Ú°à½Ì¾É¡Ê¤¤å¤¦¤»¤¤º¤¤¤»¤¤¤¤ó¤¤¤·¤å¤¯¤·¤ç¤¦) |
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 |
¿Ê¹ÔÀ¤Î»Í»è¤Î¤·¤Ó¤ì¡¦¤Ä¤Ã¤Ñ¤ê¡¢²¹³Ð¾ã³²¡¢Ä˳о㳲¡¢¶ÚÆù¤ÎÁ餻 | Ǿ¤äÀÔ¿ñ¤Ï³°Éô¤Î¾×·â¤«¤é¼é¤ë¤¿¤áǾÀÔ¿ñ±Õ¤ÎÃæ¤ËÉ⤫¤ó¤Ç¤¤¤ë¤¬¡¢ÀÔ¿ñ¤ÎÃæ¤ËǾÀÔ¿ñ±Õ¤¬¤¿¤Þ¤Ã¤¿Â礤ʶõƶ¤¬¤Ç¤¤ÆÀÔ¿ñ¤òÆ⦤«¤é°µÇ÷¤¹¤ë¤³¤È¤Ç¿À·Ð¾É¾õ¤äÁ´¿È¾É¾õ¤¬µ¯¤³¤ë¡£¼ó¤ä¶»¤Î¤¢¤¿¤ê¤Ë1¸Ä¤Þ¤¿¤ÏÊ£¿ô¤Î¶õƶ¤¬Ãæ¿´´É¤Î¸åÊý¤Ë¤Ç¤¤ë¤³¤È¤¬Â¿¤¤¡£ | unknown | * |
665 |
Tail chasing ÈøÄɤ¤¹ÔÆ° |
°Û¾ï¤Ë¥·¥Ã¥Ý¤òÄɤ¦¹ÔÆ° | °¡±ôµÛ¼ý¤Ë´ØÏ¢¤¹¤ë¤³¤È¤¬¸¶°ø¤Çµ¯¤³¤ë¿À·ÐŪ°Û¾ï¹ÔÆ°¡£°Â³Ú»àÂоݤȤʤ륱¡¼¥¹¤â¤¢¤ë | unknown | * |
681 |
Tremor ¿¶Àï |
°ìÉô¤Î¶ÚÆù¤Þ¤¿¤ÏÁ´¿È¤ÎÉÔ¿ï°Õ¤Ê¼ý½Ì¤ÈÃдˤ竤êÊÖ¤· | Ǿ¤Î³¤ÌʾõÊÑÀ¤Ë¤è¤ë¿¶À郎2Ƭ¤Î¸ò»¨¼ï¤Î·»Ä︤¤Ë¸«¤é¤ì¤¿Î㤬¥¹¥¤¥¹¤Î¥Ù¥ë¥óÂç³Ø¤Ë¤¢¤ëÌÏÍÍ¡£¥Û¥ï¥¤¥È¥É¥Ã¥°¥·¥§¥¤¥«¡¼¾É¸õ·²¤Ê¤É | unknown | ÇòÌӤθ¤ |
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 ¿Íͤʼ«Î§¿À·Ð¾ã³² |
* | * | unknown | * |