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60 114 83 6 35 22 30 58 85 79 23 35 15 24
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1 Acetabular dystrophy
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3 Achondroplasia
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23 Amelogenesis imperfecta
¥¨¥Ê¥á¥ë¼Á·ÁÀ®ÉÔÁ´¾É
¤¹¤­»õ¡¢·ç»õ¡¢Áá´ü»õ¤ÎÁÓ¼º Gene: ENAM
¥¨¥Ê¥á¥ë¼Á¤Îȯã¤Ë´ØÍ¿¤¹¤ë°äÅÁ»Ò¤Î¤¦¤ÁENAM¤ÎÊѰۤϥ¨¥Ê¥á¥ë¼Á·ÁÀ®¤¬Á˳²¤µ¤ì¤ë¡£ÊѰۤαƶÁ¤ò¼õ¤±¤¿»õ¤ÏɽÌ̤¬ÁƤ¯Ã㿧¤¬¤«¤Ã¤Æ¤¤¤Æ¥µ¥¤¥º¤¬¾®¤µ¤¤¡£Ä̾ï¤è¤ê»õ¤Î´Ö³Ö¤¬¹­¤¤¤È¥¨¥Ê¥á¥ë¼Á¤¬Ç¯Îð¤è¤êÁ᤯ËáÌפ¹¤ë
AR ¥¤¥¿¥°¥ì¡¢S¥×¡¼
31 Ankylosing spondylitis (AS)
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39 Arthritis
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84 Calcification of intervertebral discs
ÄÇ´ÖÈÄ¥«¥ë¥·¥¦¥àÄÀÃå(Àг¥²½)
ÄÇ´ÖÈĥإë¥Ë¥¢¤Î¾É¾õ¤Î·ÚÅ٤ʤâ¤Î ÄÇ´ÖÈĤÎÆðÉôÁÈ¿¥(¿ñ³Ë¤«)¤Ë¥«¥ë¥·¥¦¥à¤¬ÄÀÃ夷Àг¥²½¤¹¤ë¤³¤È¤ÇÄÇ´ÖÈĥإë¥Ë¥¢¤Ø°Ü¹Ô¤·¤ä¤¹¤¯¤Ê¤ë¡£12¡Á18¥ö·î¤Ëµ¯¤³¤ë¤³¤È¤¬Â¿¤¯¿ôÆü´Ö³¬Ãʤò·ù¤Ã¤¿¤ê¸µµ¤¾ÃÄÀ¤·¤¿¤êµ©¤Ë·ìÇ¢¤â¤¢¤ë¤¬¤¹¤°¤Ë²÷Éü¤·¤¿¤è¤¦¤Ë¸«¤¨¤ë ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥À¥Ã¥¯¥¹
85 Calcinosis circumscripta
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90 Carpal subluxation
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¼ê¼ó¤òÂ礭¤¯¶Ê¤²¤Æ¥Ú¥¿¥Ú¥¿¤ÈÊ⤯(ÃÏÌ̤ËÃ夯Ì̤¬Â礭¤¤)¡¢ÄˤߤòÁʤ¨¤Ê¤¤¤³¤È¤â¤¢¤ë¡¢¤¿¤¤¤Æ¤¤Î¾Â¦À­ ½Å¾ÉÎã¤Ç¤Ï¼êº¬µå(°ìÈÖ¾å¤Î¾®¤µ¤¤Æùµå)¤Þ¤Ç´°Á´¤ËÃÏÌ̤ËÃ夯¡£¼êº¬(¤·¤å¤³¤ó¡á¼ê¼ó)¤ò·ÁÀ®¤¹¤ë7¸Ä¤Îû¹ü¤ò¼êº¬¹ü¤È¤¤¤¦¡£°¡Ã¦±±¤Ï¥ì¥ó¥È¥²¥ó¤Ç¿ÇÃǤµ¤ì¤Ë¤¯¤¤¤³¤È¤È¡¢»Ò¸¤¤Îº¢¤Ëȯ¾É¤¹¤ë¤¿¤áÀ®Ä¹¤Î°ì´Ä??¤Ê¤É¤È¤¤¤Ã¤¿ÀâÌÀ¤ò½Ã°å»Õ¤«¤é¤Ê¤µ¤ì¤ë¥±¡¼¥¹¤â¤¢¤ë¤è¤¦¤À AD,AR,X-link G¥·¥§¥Ñ¡¢¥é¥Ö
106 Chondrodysplasia
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107 Chondrodysplasia, disproportionate short-limbed
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¶Ëü¤Êû­ Genes: FGF4
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AR N¥¨¥ë¥¯¥Ï¥¦¥ó¥É
108 Chondrodysplasia, Labrador
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Âη¿¤Î¥¢¥ó¥Ð¥é¥ó¥¹¡¢À®Ä¹Ãٱ䡢¾®¤Ö¤ê(¾®¿Í¾É)¡¢¹ü¤¬¶Ê¤¬¤ë¡¢°×¹üÀÞÀ­ Genes: FGF4
Æð¹ü¤ò´Þ¤à¹üüÈĤ¬¿·¤·¤¤¹üºÙ˦¤ò¤Ä¤¯¤é¤º¡¢¹ü¤ÎÀ®Ä¹¤¬Á˳²¤µ¤ì¤ë
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109 Chondrodystrophy
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151 Coxofemoral dysplasia
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152 Coxofemoral luxation
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160 Cystic bone lesions
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unknown ¥É¥Ù
171 Dental hypomineralization
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176 Dermoid sinus
ÎàÈéƶ
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ÀµÃæÀþ¾å(ÇØ)¤ÎÈéÉæ¤Î°ì¤Ä¤Þ¤¿¤ÏÊ£¿ô¤Î¾®¤µ¤Ê¶õƶ¡£Æ¶¤¬³°¤Ë³«¸ý¤·¤Æ¤¤¤Ê¤±¤ì¤ÐÉÑÈˤ˸«²á¤´¤µ¤ì±ê¾É¤òµ¯¤³¤·¤¿¤ê¡¢±ê¾ÉÉôʬ¤äƶÉô°Ì¤¬ÀÔ¿ñ¤Ë±Æ¶Á¤òµÚ¤Ü¤¹¤È¿À·Ð·Ï¥È¥é¥Ö¥ë¤È¤Ê¤ê¤¦¤ë¡£¥í¡¼¥Ç¥·¥¢¥ó¡¦¥ê¥Ã¥¸¥Ð¥Ã¥¯¤Î¥ê¥Ã¥¸(ÇØÃæ¤ÎµÕÌÓ)¤Ë¿ȯ
AD ¥í¡¼¥Ç¥·¥¢¥ó¡¦¥ê¥Ã¥¸¥Ð¥Ã¥¯
190 Dysplasia epiphysealis hememelica
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201 Elbow disease
ɪ´ØÀá¼À´µ
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202 Elbow dysplasia
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203 Elbow luxation
ɪ´ØÀáæ±±
³°¤ì¤¿´ØÀá¼þ°Ï¤ÎÄˤߡ¢¼ð¤ì¡¢µ¡Ç½¾ã³²¡¢Ä̾ï¤Ïξ¦À­ ɪ¤Î´ØÀ᤬´°Á´¤Ë³°¤ì¤ë¡£Ã¦±±¡Ê¤À¤Ã¤­¤å¤¦¡¢dislocation, luxation¡Ë¤È¤Ï¡¢´ØÀá¤ò¹½À®¤¹¤ë¹üƱ»Î¤Î´ØÀáÌ̤¬Àµ¤·¤¤°ÌÃÖ´Ø·¸¤ò¼º¤Ã¤Æ¤¤¤ë¾õÂÖ¡£ ÏӼܴØÀáæ±±¡¢ÏÓÜö´ØÀáæ±±¡¢Â¿È¯À­ÀèÅ·À­¹ü³Ê°Û¾ï¤Ëȼ¤¦´ØÀá·ÁÀ®ÉÔÁ´¤Î3¤Ä¤Î¥¿¥¤¥×¤ËʬÎव¤ì¤ë¡£ÄøÅ٤ˤè¤ê´°Á´Ã¦±±¤ÈÉÔ´°Á´Ã¦±±¡Ê°¡Ã¦±±¡Ë¤ËʬÎव¤ì¤ë unknown ¥­¥ã¥Ð¥ê¥¢
204 Elbow subluxation
ɪ´ØÀᰡæ±±
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223 Exostosis, multiple
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231 Fibrodysplasia ossificans
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232 Focal metatarsal fistula
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unknown G¥·¥§¥Ñ¡¼¥É
235 Fragmented coronoid process
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250 Genu valgum
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251 Gingival hypertrophy
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306 Hip dysplasia
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Ãʺ¹¤ò·ù¤¬¤ë¡¢¥â¥ó¥í¡¼¥¦¥©¡¼¥¯¡¢¤¦¤µ¤®Ä·¤ÓÍÍÊâÍÍ¡¢Êâ¹Ôº¤Æñ¡£¿¿¤Ãľ¤°¼«Á³¤Ëµ¯Î©¤·¤¿¾õÂ֤Dz£¤«¤é¸«¤ë¤È¼ê­¤ÎÉÕ¤±º¬¤ÎÉý¤è¤ê¼ê­Àè¤ÎÉý¤¬¾®¤µ¤¤ ¸Ô´ØÀá¤Î·ÁÂÖŪ¡Ê²ò˶³ØŪ¡Ë¤Ê°Û¾ï
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359 Incomplete ossification of the humeral condyle
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ɪ¤Î¼ð¤ì¡¦Äˤߡ¢ìì¹Ô ¾åÏÓ¹üðù¡Ê¤¸¤ç¤¦¤ï¤ó¤³¤Ã¤«¡Ë¤ÏÆ⦾åðù¤ª¤è¤Ó³°Â¦¾åðù¤Î´Ö¤Ë¤¢¤ë²¼Ã¼ÉôÁ´ÂΡ£À¸¸å8~12½µº¢¤Ë¹ü¤ÎÍ»¹ç¤¬´°À®¤¹¤ë¤¬¤½¤ÎºÝ¤ÎÍ»¹çÉÔÁ´ unknown ¥í¥Ã¥È¡¢¥é¥Ö¡¢S¥¹¥Ñ¥Ë¥¨¥ë¡¢¥¹¥Ñ¥Ë¥¨¥ë·Ï
374 Lameness
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Êâ¹Ô¾ã³²¤Î¸¦µæ ¿·¤¿¤Êìì¹Ô¤Îɾ²ÁÊýË¡¤Ë¤Ä¤Ê¤¬¤ëÊÒ¦ɪÊÑ·ÁÀ­´ØÀá¾É¤Î¸¤¤«¤é¤Î°ìÏ¢¤Î¥Ç¡¼¥¿¤Ê¤É¡ÊPLoS One. 2017 Jan¡Ë unknown *
378 Legg-Calve-Perthes disease
¥ì¥Ã¥°¥Ú¥ë¥Æ¥¹
¸å­¤ÎÄˤߡ¢°ú¤­¤º¤ê¡¢»¶Êâ·ù¤¤¡¢¹ø°Ê²¼¤Î¹ü³Ê¤ÎÊÑ·Á ÂçÂܹüƬ¹üü¤Ø¤Î·ì±Õ¤Î¶¡µë¤¬ÉÔ½½Ê¬¤Ê¤¿¤á¤Ë̵¶ÝÀ­²õ»à¤¬µ¯¤³¤ë¡£°ìÈÌŪ¤Ë¤ÏÀ¸¸å4,5¥ö·î¡Á10¥ö·îº¢¤Þ¤Ç¤ËÌÜΩ¤Ä¾É¾õ¤¬¸«¤é¤ì¤ë¡£¥ì¥ó¥È¥²¥ó¤Ç¿ÇÃǤǤ­¤ë ¾ïÀ÷¿§ÂÎÀ­(AR¤Î¾ì¹ç¤¢¤ê) ¾®·¿
404 Medial coronoid disease
Æâ¦îì¾õ¼À´µ
Á°»è¤ÎÊâ¹ÔÉ԰¡¦ìì¹Ô¡¢Æ¬Éô¤ò¾å²¼¤ËÍɤ餷¤ÆÊ⤯ ɪ´ØÀá¼À´µ¤Î¸¶°ø¤Î°ì¤Ä¡£Æâ¦îì¾õ(Æ͵¯)¤È¤Ï¾åÏÓ¹ü(¸ª¤«¤éɪ¤Þ¤Ç¤ÎĹ¹ü)¤È¼Ü¹ü(ɪ¤«¤é¼ê¼ó¤Þ¤Ç2Ëܤ¢¤ë¤¦¤Á¾®»Ø¦¤ÎĹ¹ü)¤ÈÜö¹ü(¤È¤¦¤³¤Ä¡¢¼Ü¹ü¤ÎÎÙ¤ÎĹ¹ü)¤¬·ÁÀ®¤¹¤ë´ØÀá¤Îîì(¤«¤®)·Á¤ÎÉô°Ì¡£´ØÀáÆð¹ü¤ÈÆð¹ü²¼¹ü¤ÎξÊý¤ËÉÂÊѤ¬¤¢¤ê¿°ø»ÒÀ­É°ø¤òÍ­¤¹¤ë¤¬¡¢´ûÃΤθ¶°ø°ø»Ò¤È¼À´µ¤È¤Î´Ø·¸¤Ï2013ǯ¸½ºß²òÌÀ¤µ¤ì¤Æ¤¤¤Ê¤¤¡£¼£ÎŤϳ°²Ê¼ê½Ñ¿ä¾© unknown ¥é¥Ö¡¢¥´¥ë
412 Mislocated polydontic maxillary incisor teeth
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Á°»õ¤ÎËÜ¿ô¤¬Â¿¤¤¡¢Á°»õ¤ÎÃæ±û¤Î»õ·Ô¤«¤éÀµ¾ï¤Ê»õ¤è¤ê¤ä¤äû¤¤º¬¤ò»ý¤Ä°Û¾ï¤Ê»õ¤¬À¸¤¨¤Æ¤¤¤ë¾õÂÖ ¢¨Ì¤¸¡¾Ú¢¨¡¡¡¡Mislocated¢ª´Ö°ã¤Ã¤¿°ÌÃ֤Τ褦¤Ê°ÕÌ£¡© polydontic¢ªpoly¤Ï¿¡¢ maxillary¢ª¾å¤¢¤´¤Î¡¢ incisor¢ªÀÚ»õ¤Þ¤¿¤ÏÌç»õ¡¢ teeth¢ªÊ£¿ô¤Î»õ
Àµ¾ï¤è¤ê¿¤¤Í¾Ê¬¤Ê»õ¤¬¤¢¤Ã¤Æ»õ¤¬2Îó¤ËÀ¸¤¨¤¿¤ê¤¹¤ë¡¢¤½¤Î²á¾ê¤Ê»õ¤Îº¬¤Ïû¤¤¤³¤È¤¬Â¿¤¤¡¢·ä´Ö¤Ë¿©¤Ùʪ¤¬¤Ä¤Þ¤Ã¤Æ¸ýÆâ¥È¥é¥Ö¥ë¤ò°ú¤­µ¯¤³¤¹¡¢¤Î¤è¤¦¤Ê¤³¤È¤¬¥ª¡¼¥¹¥È¥é¥ê¥¢¡¦¥·¥É¥Ë¡¼Âç³ØLIDA¤Î¥µ¥¤¥È¤Ë¤¢¤ê¡£
¾ïÀ÷¿§ÂÎÀ­¡¢unknown *
413 Mitochondrial myopathy
¥ß¥È¥³¥ó¥É¥ê¥¢¥ß¥ª¥Ñ¥·¡¼
¶ÚÆù¤Î¾ã³²¡¢¾®Ç¾¾É¾õ ¥ß¥È¥³¥ó¥É¥ê¥¢¤Ëµ¡Ç½ÉÔÁ´¤Î¤¢¤ë¶ÚÆù¼À´µ¤ÎÁí¾Î¡£¥ß¥È¥³¥ó¥É¥ê¥¢Ç¾¶Ú¾É¤È¤â¸À¤¦ unknown ¥¸¥ã¥Ã¥¯
432 Muscular dystrophy
¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼
¿Ê¹ÔÀ­¤Î¶ÚÆù¾ã³² ¶ÚÆù¤ÎÀµ¾ïµ¡Ç½¤ËɬÍפʰäÅÁ»Ò¤Î1¤Ä¤Þ¤¿¤ÏÊ£¿ô¤Î·ç´Ù¤Î·ë²ÌÀ¸¤¸¤ë°äÅÁÀ­¤«¤Ä¿Ê¹ÔÀ­¤Î¶Ú¼À´µ ¾ïÀ÷¿§ÂΡ¢unknown ¥Ö¥ê¥¿¥Ë¡¼¥¹¥Ñ¥Ë¥¨¥ë
433 Muscular dystrophy, Becker type
¥Ù¥Ã¥«¡¼·¿¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼
¶á°Ì¶Ú¤«¤é¤Î¶ÚÎÏÄã²¼ ¥Ç¥å¥·¥§¥ó¥Ì·¿¤Ë»÷¤Æ¤¤¤ë¤¬·ÚÅÙ unknown¡Ê¥Ò¥È¤Ç¤ÏXR¡Ë ¥é¥Ö
434 Muscular dystrophy, Duchenne typs
¥Ç¥å¥·¥§¥ó¥Ì·¿¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼
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XR *
435 Muscular dystrophy, dysphagia-associated
*Óë²¼¾ã³²¿ïȼÀ­¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼
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436 Muscular dystrophy, limb-girdle, type 2E
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·ÚÅÙ¡Á½ÅÅ٤ޤǤµ¤Þ¤¶¤Þ¤Ê¶ÚÎÏÄã²¼ ·ÚÅ٤ϳ¬Ãʾº¹ß¤äÁö¤ë¤Î¤¬¶ì¼ê¡¢²£¤¿¤ï¤Ã¤¿»ÑÀª¤«¤éµ¯¤­¾å¤¬¤ë¤Î¤¬ÉÔ¼«Í³¡£¥µ¥ë¥³¥°¥ê¥«¥ó·ç»¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼¡£¥Ò¥È¤Ç¤Ï¸¶°ø°äÅÁ»Ò¤¬Ê£¿ô¤¢¤ë¤³¤È¤¬ÃΤé¤ì¤Æ¤¤¤ë¡£¿Ê¹Ô¤Ï¤æ¤Ã¤¯¤ê unknown¡Ê¥Ò¥È¤Ç¤ÏAD¡¢AR¡Ë *
437 Muscular dystrophy, limb-girdle, type 2F
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·ÚÅÙ¡Á½ÅÅ٤ޤǤµ¤Þ¤¶¤Þ¤Ê¶ÚÎÏÄã²¼ ·ÚÅ٤ϳ¬Ãʾº¹ß¤äÁö¤ë¤Î¤¬¶ì¼ê¡¢²£¤¿¤ï¤Ã¤¿»ÑÀª¤«¤éµ¯¤­¾å¤¬¤ë¤Î¤¬ÉÔ¼«Í³¡£¥µ¥ë¥³¥°¥ê¥«¥ó·ç»¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼¡£¥Ò¥È¤Ç¤Ï¸¶°ø°äÅÁ»Ò¤¬Ê£¿ô¤¢¤ë¤³¤È¤¬ÃΤé¤ì¤Æ¤¤¤ë¡£¿Ê¹Ô¤Ï¤æ¤Ã¤¯¤ê unknown¡Ê¥Ò¥È¤Ç¤ÏAD¡¢AR¡Ë ¥Ü¥¹¥Æ¥ê
438 Muscular dystrophy, Ullrich type
¥¦¥ë¥ê¥Ã¥ÒÉÂ
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439 Muscular hypertrophy (double muscling)
¶ÚÈîÂç
²á¾ê¤Ê¶ÚÆù Gene: MSTN
myostatin¥ß¥ª¥¹¥¿¥Á¥ó°äÅÁ»Ò¤ÎÊѰۤˤè¤ë¶ÚÆùÁÈ¿¥¤Î°Û¾ï¤ÊÁý²Ã
¾ïÀ÷¿§ÂÎÀ­¡¢Ã±°ì°äÅÁ»Ò ¥¦¥£¥Ú¥Ã¥È
440 Musladin-Lueke syndrome
*¥Á¥ã¥¤¥Ë¡¼¥º¥Ó¡¼¥°¥ë¾É¸õ·²
ÈéÉ椬¸Ç¤¯¤Ê¤ë¡¢À®Ä¹Ãٱ䡢´ØÀá¤ÎÊÑ·Á(¹´½Ì)¡¢¤Ä¤ÞÀèΩ¤Á(Á°Â­)¡¢¼ª¤Ë¤·¤ï(´é¤Î³°Â¦) Genes: ADAMTSL2¡¡chromosome: 9; Location: 9q34.2
Ĺ¤é¤¯¥Á¥ã¥¤¥Ë¡¼¥º¥Ó¡¼¥°¥ë¾É¸õ·²¤È¸Æ¤Ð¤ì¤Æ¤¤¤¿¡£Áᤱ¤ì¤ÐÀ¸¸å3½µ¤Û¤É¤Ç¼ª¤ÎÆð¹ü¤Ë°Û¾ï¤Ê¥Ò¥À¤¬¸«¤é¤ì¤ë¡£ÈéÉæ¤È´ØÀá¤Î¹­ÈϰϤÊÀþ°Ý²½¡£Tony and Judy Musladin ¤µ¤ó¤é¤È Ada Lueke ¤µ¤ó¤¬1990ǯÂå½é´ü¤ËÄ´ºº¤ò»Ï¤á¤¿¤Î¤Ç¤³¤Î̾Á°¡£¢¨Ê¬Îà̤¸¡¾Ú
¥«¥ê¥Õ¥©¥ë¥Ë¥¢Âç³Ø¥Ç¥¤¥Ó¥¹¹»Veterinary Genetics Laboratory (VGL)¤Ç°äÅÁ»Ò¸¡ºº¥¢¥ê
AR ¥Ó¡¼¥°¥ë
441 Myasthenia gravis
½Å¾É¶Ú̵ÎϾÉ
´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¡¢
442 Myasthenic syndrome, congenital, CHAT-related
CHAT´ØÏ¢·¿ ÀèÅ·À­¶Ú̵ÎϾɸõ·²
¾®¤µ¤¤ÊâÉý¡¢±¿Æ°¸å¤Î°ì»þŪ¤ÊËãáã(­¤¬¶þ¶Ê¤·¤ÆºÂ¤ê¹þ¤à¡¢¿ôʬ¤Ç²óÉü)¡¢¶Ú¶ÛÄ¥Äã²¼ Genes:CHAT
Myasthenic syndrome, congenitalÀèÅ·À­¶Ú̵ÎϾɸõ·²¤«¤é¤µ¤é¤ËºÙ¤«¤¯Êѹ¹¡£
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AR ¥ª¡¼¥ë¥É¥À¥Ë¥Ã¥·¥å¥Ý¥¤¥ó¥¿¡¼
443 Myasthenic syndrome, congenital, CHRNE-related
CHRNE´ØÏ¢·¿ ÀèÅ·À­¶Ú̵ÎϾɸõ·²
¾®¤µ¤¤ÊâÉý¡¢±¿Æ°¸å¤Î°ì»þŪ¤ÊËãáã(­¤¬¶þ¶Ê¤·¤ÆºÂ¤ê¹þ¤à¡¢¿ôʬ¤Ç²óÉü)¡¢¶Ú¶ÛÄ¥Äã²¼ Gene: CHRNE
Myasthenic syndrome, congenitalÀèÅ·À­¶Ú̵ÎϾɸõ·²¤«¤é¤µ¤é¤ËºÙ¤«¤¯Êѹ¹¡£
À¸¤Þ¤ì¤Ä¤­¶ÚÎÏÄã²¼¡¢·Ú¤±¤ì¤ÐÆý¤òµÛ¤¦ÎϤ¬¼å¤¤¡¦½Å¤¤¤È¸ÆµÛº¤Æñ¤Ê¤É¤µ¤Þ¤¶¤Þ¡£ ¶ÚÅſޤȶÚÀ¸¸¡¤¬°ìÈÌŪ¤Ç¤Ê¤¤¸¤¤Ï³ÎÄê¿ÇÃǤǤ­¤Ê¤¤¥±¡¼¥¹¤Ð¤«¤ê
AR ¥¸¥ã¥Ã¥¯¡¢µí
444 Myasthenic syndrome, congenital, COLQ-related
COLQ´ØÏ¢·¿ ÀèÅ·À­¶Ú̵ÎϾɸõ·²
¾®¤µ¤¤ÊâÉý¡¢±¿Æ°¸å¤Î°ì»þŪ¤ÊËãáã(­¤¬¶þ¶Ê¤·¤ÆºÂ¤ê¹þ¤à¡¢¿ôʬ¤Ç²óÉü)¡¢¶Ú¶ÛÄ¥Äã²¼ Gene: LOC608697
Myasthenic syndrome, congenital, Labrador Retriever¥é¥Ö¥é¥É¡¼¥ë¥ì¥È¥ê¥Ð¡¼¼ï¤ÎÀèÅ·À­¶Ú̵ÎϾɸõ·²¤«¤éÉÂ̾Êѹ¹
À¸¤Þ¤ì¤Ä¤­¶ÚÎÏÄã²¼¡¢·Ú¤±¤ì¤ÐÆý¤òµÛ¤¦ÎϤ¬¼å¤¤¡¦½Å¤¤¤È¸ÆµÛº¤Æñ¤Ê¤É¤µ¤Þ¤¶¤Þ¡£ ¶ÚÅſޤȶÚÀ¸¸¡¤¬°ìÈÌŪ¤Ç¤Ê¤¤¸¤¤Ï³ÎÄê¿ÇÃǤǤ­¤Ê¤¤¥±¡¼¥¹¤Ð¤«¤ê
AR ¥é¥Ö
450 Myopathy
¥ß¥ª¥Ñ¥Á¡¼¡¢¶Ú¾ã³²¡¢¶Ú±ê
¶Ú¼À´µ¤Î¾É¾õ¤ÎÂçȾ¤Ï¶ÚÆù(¹ü³Ê¶Ú)¤¬°à½Ì¤¹¤ë¤³¤È¤Ë¤è¤ë¶ÚÎϤÎÄã²¼ Myo(¶ÚÆù)pathy(É¡¢¶ìÄË)¡£¶ÚÆù¤Î¼À´µ¤ÎÁí¾Î(Èó¾ï¤Ë¿¤¯¤Îɵ¤¤ò´Þ¤à)¡£¸¤¤Ç¤Ïº¬ËÜŪ¼£ÎŤϤۤÜ̵¤¤¡£¼ç¤Ë¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼(°äÅÁÀ­¤Ç¿Ê¹Ô¤¬¤Ï¤Ã¤­¤ê¤·¤Æ¤¤¤ë¤â¤Î)¡¢ÀèÅ·À­¥ß¥ª¥Ñ¥Á¡¼(°äÅÁÀ­¤Ç¶Ú¥¸¥¹¤Û¤É¤Ï¿Ê¹Ô¤¬¤Ï¤Ã¤­¤ê¤·¤Ê¤¤¤â¤Î)¡¢±ê¾ÉÀ­¥ß¥ª¥Ñ¥Á¡¼(¶Ú±ê)¡¢Âå¼ÕÀ­¥ß¥ª¥Ñ¥Á¡¼¤¬¤¢¤ë AD,AR,X-linked ¥é¥Ö
451 Myopathy, centronuclear
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¶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 *
452 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 ¾ïÀ÷¿§ÂÎÀ­¡¢unknown *
453 Myopathy, congenital, with fibre-type disproportion
ÀèÅ·À­Àþ°Ý·¿ÉԶѹեߥª¥Ñ¥Á¡¼
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454 Myopathy, Great Dane
¥°¥ì¡¼¥È¥Ç¥ó¼ï¤Î¥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 AR ¥°¥ì¥Ç¥ó
455 Myopathy, mitochondrial
¥ß¥È¥³¥ó¥É¥ê¥¢¥ß¥ª¥Ñ¥Á¡¼¡¢¥ß¥È¥³¥ó¥É¥ê¥¢¶Ú¾É
ÍÍ¡¹¤À¤¬¶ÚÎϤÎÄã²¼¡¢¿´¼À´µ¡¢¤±¤¤¤ì¤ó¡¢ÆñÄ°¤Ê¤É¤òȼ¤¦¤â¤Î¤¬Â¿¤¤ »ÀÁǤ«¤é±¿Æ°¥¨¥Í¥ë¥®¡¼¤òÀ¸»º¤¹¤ëºÙ˦¾®´ï´±¤Ç¤¢¤ë¥ß¥È¥³¥ó¥É¥ê¥¢¤Ëµ¡Ç½ÉÔÁ´¤¬¤¢¤ë¤¿¤áÂΤÎÃæ¤ÇºÇ¤â¥¨¥Í¥ë¥®¡¼¾ÃÈñÎ̤襤¶ÚÆù¤Ë°ÛÊѤòµ¯¤³¤¹¼À´µ¤ÎÁí¾Î¡£ÂåɽŪ¤Ê¼À´µ¤Ï¥«¡¼¥ó¥º¡¦¥»¥¤¥ä¡¼¾É¸õ·²Kearns-Sayre syndrome¡¢KSS(³°´ã¶ÚËãáã¡¢ÌÖË쿧ÁÇÊÑÀ­¡¢¿´ÅÁƳ¥Ö¥í¥Ã¥¯¤Î»°Âç¼çħ¤È¶ÚÎϤÎÄã²¼)¡¢¤Ê¤É¡£Êì·Ï°äÅÁ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown I¥»¥Ã¥¿¡¼
456 Myopathy, progressive, subacute
*°¡µÞÀ­¿Ê¹ÔÀ­¥ß¥ª¥Ñ¥Á¡¼
¥ß¥ª¥Ñ¥Á¡¼»²¾È °¡µÞÀ­¤È¤ÏµÞÀ­(ɵ¤¤¬µÞ¤Ë»Ï¤Þ¤ë¤¬Á᤯¼£¤ë¤â¤Î)¤ÈËýÀ­(ɵ¤¤¬´Ë¤ä¤«¤Ë»Ï¤Þ¤êŤ¯Â³¤¯)¤ÎÃæ´Ö¤ò»Ø¤¹¡£ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥·¥ë¥­¡¼¥Æ¥ê¥¢
457 Myopathy, sex-linked
À­À÷¿§ÂΰäÅÁÀ­¥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 X-linked ¥¢¥¤¥ê¥Ã¥·¥å¥Æ¥ê¥¢
459 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 ¥°¥ì¡¼¥È¥Ç¥ó¡¢M¥·¥å¥Ê¡¢¥Á¥ã¥¦¥Á¥ã¥¦¡¢¥¹¥¿¥Ã¥Õ¥£¡¼¡¢A¥­¥ã¥È¥ë¥É¥Ã¥°
460 Myotubular myopathy 1
¥ß¥ª¥Á¥å¡¼¥Ö¥é¡¼¥ß¥ª¥Ñ¥Á¡¼
Á´¿È¤Î¿ê¼å¡¢¶ÚÆù¤Î°Ñ½Ì¡¢Áá´ü»àË´ Genes: MTM1
ÀèÅ·À­¤Î¶Ú¼À´µ¤ÇÉáÄÌ¥ª¥¹¤¬È¯¾É¤¹¤ë
X-linked ¥é¥Ö
508 Oculoskeletal dysplasia
¹ü³Ê-´ã¾É
¹ü³Ê¤ÈÌܤ˾㳲 »²¹Í; ¥¹¥Æ¥£¥Ã¥¯¥é¡¼¾É¸õ·²¡¢¥¯¥Ë¡¼¥¹¥È¾É¸õ·² ¾ïÀ÷¿§ÂÎÀ­¡¢unknown *
509 Oculoskeletal dysplasia 1
*¹ü³Ê-´ã¾É¡¡1·¿
»Í»èû½Ì(¤È¤¯¤ËÁ°»è)·¿Äã¿ÈĹ¾É¡¢½ÅÅ٤δã¤Î·ç´Ù(¾Ë»ÒÂηÁÀ®°Û¾ï¤ÈÇòÆâ¾ã)¡¢¸ý³¸Îö¡¢Íð»õÎó Genes: COL9A3
ɵ¤¤Îɽ¸½·¿¤Ï¥Ò¥È¤Î¥¹¥Æ¥£¥Ã¥¯¥é¡¼¾É¸õ·²(ÌÖËìÇíÎ¥¡¦»ëÎϤ¬Ä㤤¡¢¿Ê¹ÔÀ­´¶²»ÆñÄ°¡¢¸ý³¸Îö¡¢²¼³Ü·ÁÀ®ÉÔÁ´¡¢´ØÀ᤬Æð¤é¤«¤¹¤®¤ë¤«¹Å¤¹¤®¤ë¡¢Ã¦±±¤ò´Þ¤à¹üü°Û·ÁÀ®¾É)¤ä¥Þ¡¼¥·¥ã¥ë¾É¸õ·²(Á°Æ¬ÉôÆͽС¢¼ãǯÀ­ÇòÆâ¾ã¡¢Ä°ÎϾ㳲¡¢É¡Éô¡¦¾å³Ü·ÁÀ®ÉÔÁ´¡¢ÉôʬÀ­Ìµ»õ¾É)¤È»÷¤ë¡£¥Ø¥Æ¥í¤Ï·ÚÅÙ¤ÎÌܤÎÉÂÊѤò»ý¤Ä¤¬¹ü³ÊÉÂÊѤÏ̵¤¤¡£»²¹Í;thanatophoric dysplasiaÃ×»àÀ­¹ü°Û·ÁÀ®¾É
AR ¥é¥Ö¡¢¥µ¥â¥¨¥É
510 Oculoskeletal dysplasia, 2
*¹ü³Ê-´ã¾É¡¡2·¿
¹ü³Ê-´ã¾É»²¾È Genes: COL9A3
¹ü³Ê-´ã¾É»²¾È
AR ¥é¥Ö¡¢¥µ¥â¥¨¥É
518 Osteoarthritis
ÊÑ·ÁÀ­´ØÀá¾É
³Æ´ØÀá¤ÎÍÍ¡¹¤ÊÉÔ¶ñ¹ç ¸Ô´ØÀᡦ¸ª¡¦Éª¡¦É¨´ØÀá¤ÎÈó±ê¾ÉÀ­´ØÀá¼À´µ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥é¥Ö¡¢¥´¥ë¡¢¥Ð¥Ë¡¢ÇϤ䥳¥¢¥é¤äÇ­¤Ê¤É¾ưʪ
519 Osteochondritis dissecans
Î¥ÃÇÀ­¹üÆð¹ü¾É
ÉÂÊÑÉô¤ÎÆߤ¤Äˤߡ¢·ãÄË ÊÌ̾ΥÃÇÀ­¹üÆð¹ü±ê¡¦Î¥ÃÇÀ­¹üü±ê¡£Â¿¤¯¤¬À¸¸å3¡Á18¥ö·î¤Ëȯ¾É¡¢´ØÀáÆð¹ü¤Î°ìÉô¤¬²õ»à¤òµ¯¤³¤·¤ÆÇí¤¬¤ì¤ë¾õÂÖ¡£¥Ò¥È¤Îɪ¤Ëµ¯¤³¤ë¤â¤Î¤Ï¯¤ËÌîµåɪ¡¦¥Æ¥Ë¥¹Éª ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥é¥Ö¡¢½©ÅÄ¡¢¥×¡¼¥É¥ë¡¢¥Ï¥¹¥­¡¼¡¢¥Ð¥Ë¡¢¥Ü¡¼¥À¡¼¥³¥ê¡¼¡¢Á´¥·¥å¥Ê¤Ê¤É¿¿ô
520 Osteochondrodysplasia
¹üÆð¹ü°Û·ÁÀ®¾É
¹ü¤Þ¤¿¤ÏÆð¹ü¤Î°Û¾ï¤Ë¤è¤ëû»èÀ­Äã¿ÈĹ¾É¤ÎÁí¾Î Gene: SLC13A1
*
¾ïÀ÷¿§ÂÎÀ­¡¢unknown M¥×¡¼¥É¥ë
521 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¥¢
522 Osteochondromatosis
¹üÆð¹ü¼ð¾É
´ØÀá¤Î°Û·ÁÀ® ¾ïÀ÷¿§ÂÎÍ¥À­(AD)¤Î¹ü·ÁÀ®ÉÔÁ´¾É¤Ê¤É ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥Þ¥é¥ß¥å¡¼¥È
523 Osteochondrosis
¹üÆð¹ü¾É¡¢ ¹üü¾É
»Í»è¤Îû½Ì¡¢¤Ä¤Þ¤êÄã¿ÈĹ À®Ä¹´ü¤«¤é¤Î¹ü¡¦Æð¹ü¡¦·ë¹çÁÈ¿¥¤ÎÀ®Ä¹¾ã³²¤ÇÀ®Ä¹Æð¹ü¤Î°Û¾ïʬ²½¡£Ä̾ïÀ®Ä¹´ü¤ËȯÀ¸¤¹¤ë¹ü¤ÎÈó±ê¾ÉÀ­¡¦Èó´¶À÷À­¤ÎÀ®Ä¹¤Î¾ã³²¡£»Í»èû½Ì·¿Äã¿ÈĹ¾É¤Ë¤ÏÆð¹ü̵·ÁÀ®¾É¤¬¤¢¤ë¡£¶»ÉôÊÑ·Á¤òȼ¤¦½Å¾É·¿¤Ï»à»º¡¦¿·À¸»Ò»àË´¤â ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥×¡¼¥É¥ë¡¢Á´¥·¥å¥Ê¡¢¥¦¥£¥Ú¥Ã¥È¡¢¥É¡¼¥Ù¥ë¥Þ¥ó¡¢¥Ð¥Ë¡¢¥Ö¥ë¥Æ¥ê¥¢¡¢¥í¥Ã¥È¡¢¥Þ¥¹¥Á¥Õ¡¢¥Ö¥ë¥Æ¥ê¥¢¤Ê¤É¿¼ï
524 Osteochondrosis dissecans
Î¥ÃÇÀ­¹üÆð¹ü¾É¡¢ ¹üü¾É
¿­Å¸»þ´ØÀá²ÄÆ°°è¤Î¸º¾¯¡¢Ç˹ԡ¢¿Ê¹Ô¤¹¤ë¤È´ØÀá±ê¡¢ÊÑ·ÁÀ­´ØÀá¾É ȯÀ¸¾ì½ê¤Ï¸ª´ØÀ᤬¿¤¯¤Û¤«¤Ïɪ¡¦É¨¡¦Â­º¬´ØÀá¡£ÆüËܸìÌõ¤Ç¤ÏÎ¥ÃÇÀ­¹üÆð¹ü±ê¤¬°ìÈÌŪ¤Ç¥Ò¥È¤Ç¤ÏÌîµåɪ¤ä¥Æ¥Ë¥¹Éª¤¬Í­Ì¾
´ØÀáÆð¹ü¤ÎÈî¸ü¤¬¸¶°ø¤ÇÆð¹üÊÒ¡ÊÍ·Î¥¡¦»Ä¸¤¹¤ë¤È´ØÀá¥Í¥º¥ß¡Ë¤¬È¯À¸¤·Ç˹ԤȤʤ롣³°²ÊŪ¼£ÎŤ¬Í­¸ú¡£ Èî¸ü¼«ÂΤθ¶°ø¤Ë¡Ö¥Û¥ë¥â¥óÀ­¡×¤¬¤¢¤ë¤¿¤áÉÔÇ¥¼ê½Ñ¤Î¥Ç¥á¥ê¥Ã¥È¤È¤µ¤ì¤ë¤Î¤«¤â¤·¤ì¤Ê¤¤¡Ê¤Á¤Ê¤ß¤Ë¾¤Ï¡Ö°äÅÁÀ­¡×¡Ö±ÉÍÜÀ­¡×¡Ë
2013ǯ¥¹¥¤¥¹¥±¥Í¥ë¥¯¥é¥Ö¤Ç¥°¥ì¡¼¥¿¡¼¥¹¥¤¥¹¥Þ¥¦¥ó¥Æ¥ó¥É¥Ã¥°¤È¥Ü¡¼¥À¡¼¥³¥ê¡¼¤ÎÍ­ÉÂΨ¤ÎÄ´ºº¡¢¤Û¤«
unknown ¥Ð¥Ë¡¢¥°¥ì¡¼¥¿¡¼¥¹¥¤¥¹
525 Osteodystrophy
¹ü·ÁÀ®°Û¾ï¡¢¹ü°Û±ÉÍܾÉ
Á°»è¤ÎÄˤߤäÆðÉôÁÈ¿¥¤Î¼ðı¡¢¤Þ¤ë¤Ç¤¦¤ÄɤΤ褦¤Ê¾É¾õ¡¢¿©ÍßÉÔ¿¶¡¢¹âÂβ¹ ÊÌ̾ÈîÂçÀ­¹ü°Û±ÉÍܾɡ¦Mller -Barlow'sÉ¡¦¥Ð¡¼¥í¡¼É¡¦¹ü³Ê²õ·ìÉ¡£»Ò¸¤¡Á¼ã¸¤¤Ëȯ¾É¡¢²¼Î¡¡¦ÓÒÅÇ¡¦´ã¤äÉ¡¤«¤éÇ´±Õ¤ÎÇӽФ¬¾É¾õ¤Ë½Ð¤ë¤³¤È¤â¤¢¤ë¡£ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥ï¥¤¥Þ
526 Osteogenesis imperfecta, COL1A2-related
COL1A2´ØÏ¢·¿¡¡¹ü·ÁÀ®ÉÔÁ´¾É
Ëöüû½Ì¡¢½ÅÅ٤ιü·ÁÀ®ÉÔÁ´ Gene: COL1A2
*
AD ¥Ó¡¼¥°¥ë
527 Osteogenesis imperfecta
¹ü·ÁÀ®ÉÔÁ´¾É
°×¹üÀÞÀ­¡¢µ¶À­Éû¹Ã¾õÁ£µ¡Ç½Äã²¼ Gene: COL1A2
ÊÌ̾ÀÈÀ­¹ü¼À´µ¡¢»æ¤Î¹ü¼À´µ¡¢¼ãǯÀ­¹ü¤½¤·¤ç¤¦¡£¹ü¤Î·ÁÀ®¤ËɬÍפʹÚÁǤ¬ÉÔ­¤·¤Æ¤¤¤ë¤¿¤á¹ü¤¬¼å¤¤
¾ïÀ÷¿§ÂÎÀ­¡¢Ã±°ì°äÅÁ»Ò ¥Ù¥É¥ê¥ó¥È¥ó¡¢¥×¡¼¥É¥ë¡¢G¥·¥§¥Ñ¡¢¥ï¥¤¥Þ
528 Osteogenesis imperfecta, SERPINH1-related
SERPINH1´ØÏ¢·¿¡¡¹ü·ÁÀ®ÉÔÁ´¾É
¹ü·ÁÀ®ÉÔÁ´¾É»²¾È Genes: SERPINH1
¥À¥Ã¥¯¥¹¥Õ¥ó¥È¹ü·ÁÀ®ÉÔÁ´¾É¤«¤éÉÂ̾Êѹ¹
AR ¥À¥Ã¥¯¥¹
529 Osteogenesis imperfecta, type III, COL1A1-related
COL1A1´ØÏ¢·¿¡¡­··¿¹ü·ÁÀ®ÉÔÁ´¾É
¹ü·ÁÀ®ÉÔÁ´¾É»²¾È Gene: COL1A2
*
AD ¥´¡¼¥ë¥Ç¥ó
530 Osteosarcoma
¹üÆù¼ð
¹ü¤òÇ˲õ¤µ¤ì¤ëºÝ¤ÎÄË¤ß ¹ü¤Î¤¬¤ó¡£½é´ü¤ÎÄˤߤϰÂÀŤˤ·¤Æ¤¤¤ë¤È¼£¤Þ¤ë¤³¤È¤¬¤¢¤ë¤¿¤áȯ¸«¤ÎÃÙ¤ì¤Ë¤Ä¤Ê¤¬¤ë¡£¸¤¤Ç¤Ï¥Ò¥È¤è¤êÇÙž°Ü¤¬Â¿¤¤ AD ¿
538 Patellar luxation
ɨ³¸¹üæ±±
¸å­¤Îɨ¤Î»®¤Îæ±± ¥Ñ¥Æ¥é¡£É¨³¸¹ü¤È¤Ïɨ¤Î»®¤Î¹ü¤Ê¤Î¤Ç¹ü¤Îɵ¤¤È´¶¤¸¤ë¤¬¤è¤Û¤É³°½ýÀ­¤ä±ÉÍÜ´ÉÍý¥ß¥¹°Ê³°¤ÏÀèŷŪ¤Êɨ´ØÀá¼þ°Ï¤Î¶ÚÆù¤ä¹ü¤Î·ÁÀ®°Û¾ï¤äð×ÂÓ¤ÎÉÕÃåÉô¤Î°Û¾ï¤¬¸¶°ø¡£¤Ê¤Î¤Ç¡Ö¾®·¿¸¤¤Ï¹ü¤¬ºÙ¤¯¤Æ²ÚÔú¤À¤«¤é¤«¤«¤ê¤ä¤¹¤¤¡×¤Ï´Ö°ã¤¤¡£Àµ¾ï¤Êɨ¤Î´ØÀá¤Ë¤Ï»½ý¤òËɤ°¤¿¤á¤Î¤µ¤Þ¤¶¤Þ¤Ê¤·¤¯¤ß¤¬È÷¤ï¤Ã¤Æ¤¤¤ë¤â¤Î¤Ç¤¢¤ë¡£¥¹¥¿¥ó¥À¡¼¥É¤ÊÂη¿¤òµá¤á¤¿·ë²Ìƹ¤¬µÍ¤Þ¤Ã¤Æ¹ø¤¬¹â¤¤¸¤¼ï¤Ëȯ¾É¤¬Â¿¤¤¤È¸À¤ï¤ì¤ë¤³¤È¤â¤¢¤ë¤¬Æ¹Ä¹¤Ç¹ø¤ÎÄ㤤¥À¥Ã¥¯¥¹¤ËºÇ¶áÆäË¿ȯ¤·¤Æ¤¤¤ë»ö¼Â¤ÏÂη¿¤À¤±¤ÎÌäÂê¤Ç¤Ï¤Ê¤¤¤³¤È¤ò¼¨¤¹¡£ unknown *
560 Polyarthritis
¿ȯÀ­´ØÀá±ê
ξ¦ÂоÝÀ­¤Î´ØÀá¤Î¤³¤ï¤Ð¤ê(¤È¤¯¤ËÄ«)¡¢ìì¹Ô¡¢´ØÀáÄË Ê£¿ô¸Ä½ê¤Î´ØÀá¤Ë±ê¾É¤¬µ¯¤­¤ë¾õÂÖ¡£¼«¸ÊÌȱּÀ´µ¤¬¸¶°ø¤È¤Ê¤ë¤³¤È¤¬Â¿¤¤ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ½©Åĸ¤¡¢¥ï¥¤¥Þ¡¢Ç­
568 Polymyositis
¿ȯÀ­¶Ú±ê
¤Þ¤Ö¤¿¤Î¼ð¤ì¡¢´éÌ̤ÎÈéÉæ±ê¡¢»Í»è´ØÀá¼þ°Ï¤Î¤«¤µ¤Ö¤¿¡¢¶ÚÆù¤ÎæÎÏ¡¢Ç˹ԡ¢Êâ¹Ô¾ã³² Î×¾²¤ª¤è¤ÓÁÈ¿¥³ØŪÎà»÷À­¤Ï¥Ò¥ÈÌȱֲðºßÀ­¥ß¥ª¥Ñ¥Á¡¼¤Ë¶¦Í­
¼ð¤ì¤ä¤«¤µ¤Ö¤¿¤¬½Ð¤Æ¤¤¤ë¾ì¹ç¤ÏÈéÉæ¶Ú±ê¤È¸Æ¤Ö¡£´éÌ̤ÎÈéÉæ±ê¤ÏÌܤÈÌܤδ֤«¤éÉ¡¤Ë¤«¤±¤Æ¤Î»°³Ñ·Á¤ÎÎΰè¤Ëµ¯¤³¤ê¡¢Î¾ÌÜƬÉôʬ¤ÎÇòÌܤ¬ÌÜΩ¤Ã¤Æº¸±¦¤ÎÌܤ¬¤½¤ì¤¾¤ì³°Â¦¤ò¸«¤Æ¤¤¤ë¤è¤¦¤Ê¼ð¤ì¤«¤¿¤Ë¤Ê¤ë¡£ ÌȱÖÍÞÀ©ÎÅË¡¤ËÂФ¹¤ëÍ­±×¤ÊÎ×¾²±þÅú¤¬ÌȱֲðºßÉ°ø¤òɽ¤¹¡£
unknown ¥Ó¥º¥é
582 Prognathism
²¼³ÜÁ°Æ;ɡ¢³ÜÁ°Æ;É
¾å³Ü¹ü¤è¤ê²¼³Ü¹ü¤¬Â礭¤¤¤¿¤á²¼¤¢¤´¤¬Á°¤Ë½Ð¤ë¾õÂÖ ¹ü³Ê¤Îñ½ã¤ÊÍ¥À­°äÅÁ(¥Ò¥È¤Ç¤Ï¥Ï¥×¥¹¥Ö¥ë¥°²È¤Çͭ̾)¤Î¾¡¢À夬°Û¾ï¤ËÂ礭¤«¤Ã¤¿¤êËöüÈîÂç¾É¤¬¸¶°ø¤ÇÁ°Æͤ¹¤ë¤³¤È¤â¤¢¤ë¡£³Ü¤Î¹ü¤ÏÂΤξ¤ÎÉôʬ¤ÈƱÍͤËÀ®Ä¹´ü¤Ë¿­¤Ó¤ë¤Î¤ÇÀ¸¸å¿ô½µ¤È¿ô¥ö·î¤Ç¤ÏÍÍÁ꤬¶Ëü¤Ë°Û¤Ê¤ë¥±¡¼¥¹¤â¤¢¤ë(À¸¸å¿ô½µ¤«¤éºÝΩ¤Ã¤ÆÁ°Æͤ·¤Æ¤¤¤ë¥±¡¼¥¹¤â¤¢¤ë) unknown *
626 Rupture of the cranial cruciate ligament
Á°½½»ú¿ÙÂÓÃÇÎö
* 90¤È574¤Î¥³¡¼¥®¡¼¤Î¸¦µæ¤Ç¤ÏAR¤Î²ÄǽÀ­¤â¹Í¤¨¤é¤ì¤¿¤½¤¦ unknown ¥³¡¼¥®¡¼
637 Shoulder luxation
¸ªÃ¦±±
¸ª´ØÀá¤Îæ±± ¸ª¤Î¼ð¤ì¤äÄˤߡ¢°ì»þŪ¤Þ¤¿¤Ï±Êµ×Ū¤Êìì¹Ô¤Ç°Û¾ï¤ÊÊâ¹Ô¤ä»ÑÀª¤ò»ý¤Ä unknown ¥È¥¤
638 Skeletal dysplasia 2 (SD2)
¹ü³Ê·ÁÀ®ÉÔÁ´
û¤¤Â­¡¢Ä㤤¸ª¤Î°ÌÃÖ ÉԶѹդʾ®¿Í¾É¤Î·Ú¾É·¿ AR ¥é¥Ö¡¢¥´¥ë
662 Systemic lupus erythematosus
Á´¿ÈÀ­¥¨¥ê¥Æ¥Þ¥È¡¼¥Ç¥¹(SLE)
¤Æ¤ó¤«¤ó¡¢´ØÀá¤Î±ê¾É¡¢ÈéÉæ¤Îȯ¿¾¡¢Ã¦ÌÓ¡¢¸ý¹ÐÆâÄÙáç¤ä¤½¤Î¾Á´¿È¤Î¤¿¤À¤ì¡¢Ç٤俴¡Éô°Ì¤ÎÄˤߡ£¥á¥¹¤Ë¿¤¯È¯¾ð¼þ´ü¤Ëȼ¤Ã¤Æ¾É¾õ¤Î·Ú½Å¤ÎÊѲ½¡£ ´ØÀá¡¢¿Õ¡¡¢Ç´Ëì¡¢·ì´ÉÊɤ˵¯¤³¤ëËýÀ­¡¢±ê¾ÉÀ­¤Î·ë¹çÁÈ¿¥¼À´µ unknown *
679 Transitional lumbosacral vertebrae
»ÃÄê¹øÀçÄǹü
* Transitional vertebral segments*°Ü¹ÔÀ­*Äǹü¤Î*ʬÀá
Âδ´¤ÎÃì¤Ë¤Ê¤ë¹ü³Ê¤òÀÔÃì¤È¸À¤¤¡¢ÀÔÃì¤ÏÁ°¸å¤Ç¸ß¤¤¤ËÏ¢·ë¤¹¤ëÄǹü¤Ç½ÐÍè¤Æ¤¤¤ë¡£Äǹü(¤Þ¤¿¤ÏÀÔÄǹüvertebra)¤ÏÀÔÄǤÎʬÀá¤ò¤Ê¤¹¸Ä¡¹¤Î¹ü¤Î¤³¤È¤Ç½Ä°ìÎó¤Ëʤó¤Ç¤ª¤ê¸¤¤Î¾ì¹ç¾å¤«¤é½ç¤Ë·ÛÄÇ(C)7¸Ä¡¢¶»ÄÇ(T)13¸Ä¡¢¹øÄÇ(L)7¸Ä¡¢ÀçÄÇ(S)3¸Ä¡¢ÈøÄÇ(Cd)20-24¸Ä¤Î50¡Á54¸Ä(¥Ò¥È¤Ï32¡Á35¸Ä)¸ºß¤¹¤ë(»²¹Í½ñÀÒ¡¨¸¤¤ÈÇ­¤Î²ò˶¥»¥ß¥Ê¡¼-´ðÁäÈÎ×¾²-96ǯ¥¤¥ó¥¿¡¼¥º¡¼È¯¹Ô)
unknown *
691 Van den Ende-Gupta syndrome
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