¸¤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
|
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 |
¶Ú¹ü³Ê¡¦·ë¹çÁÈ¿¥¡¡¡¡¡¡¡¡¡¡83(1) |
---|
ÄÌÈÖ | ¼À ´µ ̾ | ¼ç ¤Ê ¾É ¾õ | È÷¡¡¡¡¡¡¡¡¡¡¹Í | °äÅÁ·ÁÂÖ | ¼ç¤Ê³ºÅö¸¤¼ï |
---|---|---|---|---|---|
1 |
Acetabular dystrophy ´²¹ü±±(¤«¤ó¤³¤Ä¤¤å¤¦)¥¸¥¹¥È¥í¥Õ¥£¡¼ |
»²¾È¡§ ¸Ô´ØÀá·ÁÀ®ÉÔÁ´ |
´²¹ü±±¤È¤ÏÂçÂܹüƬ¤Î¼õ¤±»®Éôʬ¤Î¹ü¤Î¤¯¤Ü¤ß¤Î¤³¤È¤Ç¡¢¥¸¥¹¥È¥í¥Õ¥£¡¼¤Ï°Û±ÉÍܤˤè¤ëÁÈ¿¥¤Î°à½Ì¤Ê¤É¤Î°ÕÌ£¡£ ¸Ô´ØÀá¤Ï´²¹ü±±¤ÈÂçÂܹüƬ¤¬ÁȤ߹ç¤ï¤µ¤ì´ØÀáÉôʬ¤¬µå¾õ(µå´ØÀá)¤Ë¤Ê¤Ã¤Æ¤¤¤ë¡£ |
* | * |
3 |
Achondroplasia Æð¹ü̵·ÁÀ®¾É |
¤è¤¯É½¤ì¤ë¾É¾õ¤È¤·¤Æ±¢âдݤäȯ¾ð°Û¾ï¤Ê¤É¤ÎÀ¸¿£¥È¥é¥Ö¥ë¡¢°¤¤»õÎó¡¢Ã»¤¹¤®¤ë»Í»è¡¢µ¤´É»Ù³ÈÄ¥¾É¡¢´ØÀá¾ã³²¡¢Ìµ¸ÆµÛ¡¦Ã漪±êÅù¤ò´Þ¤à¸ÆµÛ´ï´ØÏ¢¤ÎÌäÂê¡¢¿åƬ¾É¡¢¹øÄǤζ¹ºõ¤Ë¤è¤ëÊâ¹Ôº¤Æñ¡¦ÇÓÝõ¾ã³² | »Í»èû½Ì·¿¾®¿Í¾É¡£Éª¡¦É¨¡¦¼êº¬¡¦Âº¬¤Î´ØÀá¼ðÂ礬¼ç¤Ê¾É¾õ¤Î¹üüÆð¹ü¤Î·ÁÀ®ÉÔÁ´¡£¹üü¤ÎÀ®Ä¹¤Ï´Ë¤ä¤«¤ÇÁá´ü¤ËÄä»ß¡£ÂÛÆâ»àË´(»à»º)¡¦¿·À¸»ù»àË´ | AD | * |
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) ¶¯Ä¾ÀÀÔÄDZê |
ÇØÉôÄË¡¢ÈùÇ®¡¢¸µµ¤¿©ÍßÉÔ¿¶¡¢ÂνŸº¾¯¡¢ÉÏ·ì | ά¾ÎAS¡£¹çÊ»¾É¤È¤·¤ÆµÞÀÆúºÌ±ê¡ÊÁ°Éô¤Ö¤É¤¦Ëì±ê¡Ë¡¢Ç¢¤ÈÊؤΤª¤â¤é¤·¡¢Äǹü¹üÀޤ䰡æ±±¡¢ÂçÆ°Ì®ÊÛÊĺ¿ÉÔÁ´¡£Âμ´¹ü³Ê¤äËö¾¿Âç´ØÀá¤Î±ê¾É¤Ë¤è¤Ã¤ÆÆÃħ¤Å¤±¤é¤ì¤ëÁ´¿ÈÀ¥ê¥¦¥Þ¥ÁÀ¾ã³² | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ü¥¯¥µ¡¼ |
39 |
Arthritis ´ØÀá±ê |
¸ª¤Î´ØÀá¤Ë±ê¾É¤òȼ¤¦Éµ¤¤¬¤¢¤ì¤ÐÁ°Â¤ò³°Â¦¤«¤éÃæ¤Ë²ó¤·Æþ¤ì¤ë¤è¤¦¤ËÊ⤤¤¿¤ê¤Ê¤ÉÉô°Ì¤Ë¤è¤Ã¤ÆÍÍ¡¹¤À¤¬´ðËÜŪ¤Ë¤Ï¼ðı¡¢°µÄË¡¢¤³¤ï¤Ð¤ê¡¢²ÄÆ°°èÀ©¸Â | ¸Ô´ØÀá·ÁÀ®ÉÔÁ´¤äɨ³¸¹üæ±±¤Ê¤É¤ò´Þ¤à´ØÀá¤Îɵ¤¤ÎÁí¾Î¡£¤³¤Î¤è¤¦¤Ê°äÅÁÀ¼À´µ¤â¸«Æ¨¤µ¤Ê¤¤¤¿¤á¤Ë¥É¥Ã¥°¥·¥ç¡¼¤ÇÊâÍÍ¿³ºº¤¬¤¢¤ë¤È¸À¤¨¤ë¡£ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¿ |
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 ¸Â¶ÉÀÀг¥ÄÀÃå¾É |
ÂÎɽÌ̤˸½¤ì¤ë¾®¤µ¤á¤ÎÇò¤¤á¤Ç¤¤â¤Î¡¢»É¤¹¤è¤¦¤ÊÄË¤ß | Àå¤ä»Í»è¡¦´ØÀá¤Ë¤Ç¤¤ë¤³¤È¤¬Â¿¤¤¡¢Æùµå¤Ë½ÐÍ褿Îã¡¢ÀÔÄǤ˱è¤Ã¤Æ½ÐÍ褿Îã¤â¤¢¤ë¡£¡Ø¸¤¤ÎÀå¶Ú¤È¿¿Èé¤Ë¤ª¤±¤ë¸Â¶ÉÀÀг¥ÄÀÃå¾É¤Î1Îã¡Ù(CiNii)http://ci.nii.ac.jp/naid/110003886423 | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ü¥ë¥¾¥¤¡¢E¥Ý¥¤¥ó¥¿¡¼¡¢G¥·¥§¥Ñ¡¢¥°¥ì¡¼¥È¥Ç¥ó |
90 |
Carpal subluxation ¼êº¬¹ü°¡Ã¦±± |
¼ê¼ó¤òÂ礤¯¶Ê¤²¤Æ¥Ú¥¿¥Ú¥¿¤ÈÊ⤯(ÃÏÌ̤ËÃ夯Ì̤¬Â礤¤)¡¢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 Æð¹ü·ÁÀ®ÉÔÁ´ |
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 |
AD,AR | ¥é¥Ö¡¢¥Ô¥ì |
107 |
Chondrodysplasia, disproportionate short-limbed *Æð¹ü·ÁÀ®ÉÔÁ´¡¡Ã»Â |
¶Ëü¤Êû |
Genes: FGF4 Æð¹ü¤ò´Þ¤à¹üüÈĤ¬¿·¤·¤¤¹üºÙ˦¤ò¤Ä¤¯¤é¤º¡¢¹ü¤ÎÀ®Ä¹¤¬Á˳²¤µ¤ì¤ë 2013/12Äɲà |
AR | N¥¨¥ë¥¯¥Ï¥¦¥ó¥É |
108 |
Chondrodysplasia, Labrador ¥é¥Ö¥é¥É¡¼¥ëÆð¹ü·ÁÀ®ÉÔÁ´ |
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 |
AR | ¥é¥Ö¡¢¥Ô¥ì |
109 |
Chondrodystrophy Æð¹ü¥¸¥¹¥È¥í¥Õ¥£¡¼ |
¶Ú¶¯Ä¾(¥ß¥ª¥È¥Ë¡¼) | ¹üÆð¹ü·ÁÀ®ÉÔÁ´¾É¡¢»²¹Í;Hurler¾É¸õ·²(¥à¥³Â¿Åü¾É¤ÎÂåɽ¼À´µ) | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ó¡¼¥°¥ë¡¢¥°¥ì¥¤¥Ï¥¦¥ó¥É |
151 |
Coxofemoral dysplasia ¸Ô´ØÀá·ÁÀ®ÉÔÁ´ |
ìì¹Ô(¥Ï¥³¥¦)¡¢¥â¥ó¥í¡¼¥¦¥©¡¼¥¯¡¢Ãʺ¹·ù¤¤¡¢Êâ¹Ôº¤Æñ | Hip dysplasia»²¾È | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown |
152 |
Coxofemoral luxation ¸Ô´ØÀáæ±± |
ìì¹Ô¡¢¤¦¤µ¤®Ä·¤ÓÍÍÊâ¹Ô¡¢¤Ê¤É | ÂçÂܹü¤¬¹üÈפÎÃæ¤Î´²¹ü±±¤«¤é³°¤ì¤¿¾õÂÖ | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown |
160 |
Cystic bone lesions *ǹ˦À¹üÁÈ¿¥¾ã³² |
ÉÂÊÑÉÕ¶á¤Î´ØÀá¤Î¼ð¤ì¡¦Äˤߡ¦¤³¤ï¤Ð¤ê¡¢°×¹üÀÞÀ¡¢Ç¹Ë¦¤¬¾®¤µ¤¤¤¦¤Á¤Ï̵¾É¾õ |
¼ã¤¤¤¦¤Á¤Ëȯ¾É¤·¤ä¤¹¤¤¡£¸¤¤Îǹ˦À¹üÉÂÊѤÏ̵¿§Æ©ÌÀ¤ÎήÂΤò´Þ¤àñ½ã¤Ê¹üǹ˦¡¢·ì±Õ¤ò´Þ¤ó¤ÀÆ°Ì®áîǹ˦¡¢´ØÀá¤ÎÆð¹ü¤ÎµµÎö¤«¤é±Õϳ¤ì¤òµ¯¤³¤·¤¿´ØÀá±Õ¤¬´Þ¤Þ¤ì¤ëÆð¹ü²¼Ç¹Ë¦¤Î3¼ïÎब¤¢¤ë¡£ ǹ˦(¤Î¤¦¤Û¤¦)¤È¤ÏÆðÁÈ¿¥Æâ¤ËÉÂŪ¤Ë·ÁÀ®¤µ¤ì¤¿±Õ¾õÀ®Ê¬¤ò»ý¤Á¡¢±Õ¾õÀ®Ê¬¼þ°Ï¤ò¸ÇͤÎñÁؾåÈé¤Ëʤ¤ï¤ì¤Æ¤¤¤ëµå¾õ¤Îǹ¾õʪ¤ò»Ø¤¹(¤³¤ÎÆâÍÆʪ¤¬¸ÇÂΤÀ¤Èǹ¼ð¤È¸À¤¦)¡£ ¤Þ¤¿¹üÁÈ¿¥¤È¤ÏÃæÇÙÍÕͳÍè¤Î¹ü¤ò·ÁÀ®¤¹¤ë·ë¹çÁÈ¿¥¤Î¤³¤È¤Ç¥«¥ë¥·¥¦¥à¤ò´Þ¤à¹Å¤¤¹ü¼Á¤ÈÆâÉô¤Î¹üºÙ˦¤Çºî¤é¤ì¤Æ¤¤¤ë¡£ÂçÂܹü¤Ëǹ˦ÀÉÂÊѤ¬¤Ç¤¤Æ¹üÀÞ¤·¤¿Î㤬¥É¡¼¥Ù¥ë¥Þ¥ó¤Ë¤¢¤ë |
unknown | ¥É¥Ù |
171 |
Dental hypomineralization »õ¤ÎÄãÀг¥²½ |
»õ¤ÎËáÌס¢»õÆù±ê | ¥¨¥Ê¥á¥ë¼Á¤ÎÀг¥²½ÉÔÁ´¡£ÇöÃ㿧¤ËÃ忧¤µ¤ìÍϤ±¤¿¤è¤¦¤Ë¸«¤¨¤ë | AR | ¥Ü¡¼¥À¡¼ |
176 |
Dermoid sinus ÎàÈéƶ |
·ÚÅÙ¡Á½ÅÅÙ¤Þ¤ÇÍÍ¡¹¤ÊÀÔ¿ñ¤Î±ê¾É¡¢¿À·Ð·Ï¤Î°Û¾ï |
Genes: FGF4, FGF19, FGF3, ORAOV1(¤¹¤Ù¤Æ18ÈÖÀ÷¿§ÂÎ) 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 *¹üüȾ»è°Û·ÁÀ® |
¼ç¤ËÀ®Ä¹´ü¤Ëµ¯¤³¤êºÇ½é¤ÏÈóÂоÎÀ¡¢½ù¡¹¤Ë²¼»è¤ÎÆ⦴ØÀá¤ÎÄˤߡ¦¼ð¤ì¡¦ÊÑ·Á¡¦Î¾Â¤ÎŤµ¤ÎÉÔ°ìÃס¢¹üü¤ÎÈîÂç | ¥È¥ì¥Ð¡¼¡¾¥Õ¥§¥¢¥Ð¥ó¥¯É¡£¥Ñ¥Æ¥é¡¢¹üÆð¹ü¼ð¤ò°ú¤µ¯¤³¤¹¤³¤È¤â¤¢¤ë | unknown | ¥Ü¥¯¥µ¡¼ |
201 |
Elbow disease ɪ´ØÀá¼À´µ |
Á°»è¤Î·ÁÂÖ°Û¾ï¤ÈÊâ¹Ô¾ã³²¡¢ìì¹Ô¤ÎÄøÅ٤Ϥµ¤Þ¤¶¤Þ | ÀèÅ·À¤Îɪ¤Î´ØÀá¤Î¼À´µ¤ÎÁí¾Î¡£¹üËì±ê¡¢´ØÀá±ê¡£Éª´ØÀá¤ÎÃÇÊÒ²½¡¢Æð¹üÍÍÉÂÊÑ¡¢Æð¹ü¤ÎµµÎö¤«¤éÆâ¦îì¾õÆ͵¯¤ÎÎΰè¤ËÉÂÊÑ¡£·ÚÅ٤Ǥâ¾ÍèŪ¤ËÊÑ·ÁÀ´ØÀá±ê¤Ë¿Ê¤à¥±¡¼¥¹¤¬Â¿¤¤ | unknown | ¿ |
202 |
Elbow dysplasia ɪ´ØÀá·ÁÀ®ÉÔÁ´ |
Á°»è¤Îìì¹Ô¡¢±¿Æ°ÉÔÂÑ¡¢´ØÀá±ê | ¾åÏÓ¹ü¤ÈÁ°ÏÓ¹ü¤ò¤Ä¤Ê¤°Éª´ØÀá¤Î·ÁÀ®¤Ë°Û¾ï¤¢¤ë¾õÂÖ¡ÊÉôʬŪ¤Ê´ñ·Á¡Ë | unknown | ¥ì¥È¥ê¥Ð¡¼¡¢¥í¥Ã¥È |
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±± |
³°¤ì¤¿´ØÀá¼þÊÕ¤ÎÄˤߡ¢¼ð¤ì¡¢µ¡Ç½¾ã³² | ɪ¤Î´ØÀ᤬ÉÔ´°Á´¤Ë³°¤ì¤ëÉÔ´°Á´Ã¦±± | unknown | * |
223 |
Exostosis, multiple ¿ȯÀ³°¹ü¼ð¾É¡¢Â¿È¯À³°¹ü¼ð |
¹ü¤ÎÀ®Ä¹¾ã³²¡¢¹üÊÑ·Á¡¢´ØÀá²ÄÆ°°èÀ©¸Â¡¢¾®¤Ö¤ê¡¢ÊÑ·ÁÀ´ØÀá¾É¡¢Ëö¾¿¿À·Ð¤Ø¤Î°µÇ÷¾É¾õ | Æð¹ü¤Çʤ¤ï¤ì¤¿¹ü¤ÎÎÉÀ¼ðáç¡£°À¼ðáç¡¢Æð¹üÆù¼ð¤Ë¤Ê¤ê¤ä¤¹¤¤¡£ | ¥Ò¥È¤Ç¤ÏAD | * |
231 |
Fibrodysplasia ossificans ¿Ê¹ÔÀ¹ü²½ÀÀþ°Ý°Û·ÁÀ®¾É |
¥Ò¥È¤Ç¤ÏÀ¸¤Þ¤ì¤Ä¤Ã»¤¯Â礤ÊÄޤȳ°È¿Êìì椬¤¢¤ê³ØƸ´ü¤ËºÇ½é¤Î¾É¾õ¤¬¸½¤ì¤ë¡£»àË´¡£ |
Á´¿È¤Î·ë¹çÁÈ¿¥¤¬½ù¡¹¤Ë¹ü²½¤¹¤ë¼À´µ¡£ »÷¤Æ¤¤¤ëɵ¤¤Ç¾É¾õ¤Î·Ú¤¤¼À´µ¤ÏÀþ°ÝÀ¹ü°Û·ÁÀ® |
¥Ò¥È¤Ç¤ÏAD | * |
232 |
Focal metatarsal fistula ¶É½êÀÃæ¹üáñ¹¦ |
¸å¤í¤ιäξå¤ÎÉôʬ¤Ë´É¾õ¤Î·ê¤¬¤¢¤ë¾õÂÖ |
ʬÈçʪ¤¬½Ð¤Æ´¶À÷¡¢±ê¾É¡¢ÄÙáç²½¤«¤éÊâ¹Ô¤Ë»Ù¾ã¤¬½Ð¤ë¾ì¹ç¤â¤¢¤ë¤¬Ä̾ïÌ¿¤ËÊ̾õ¤Ï̵¤¤¡£ áñ¹¦(¤í¤¦¤³¤¦)¤ÏÈéÉ桦ǴËì¤ä¡´ï¤ÎÁÈ¿¥¤Ë¡¢±ê¾É¤Ê¤É¤Ë¤è¤Ã¤ÆÀ¸¤¸¤¿´É¾õ¤Î·ê¡£ÂÎÆâ¤ÇÏ¢Íí¤¹¤ë¤â¤Î¤È¡¢ÂÎɽ¤Ë³«¸ý¤¹¤ë¤â¤Î¤È¤¬¤¢¤ë |
unknown | G¥·¥§¥Ñ¡¼¥É |
235 |
Fragmented coronoid process ÃÇÊÒ²½îì¾õÆ͵¯ |
Á°»è¤ÎÄˤߡ¢ìì¹Ô | ɪ´ØÀá·ÁÀ®ÉÔÁ´¡£Æ⦤Îîì¾õÆ͵¯¤¬ÃÇÊÒ²½¤·¤¿Éª¤Îȯ°éÉÔÁ´¤Ç¿¤¯¤Ïξ¦À¤À¤¬°²½ÄøÅÙ¤¬º¸±¦¤Ç°ã¤¦¤ÈÊÒ¦¤ò¤«¤Ð¤¦¤³¤È¤â | * | ¥Á¥ï¥ï¡¢¥é¥Ö¡¢¥Ð¥Ë |
250 |
Genu valgum XµÓ |
À¸¸å4¥ö·îº¢¤«¤é¤ÎÇ˹ԡ¢¸å»è¤ÎÊÑ·Á¡¢ÄˤߤÎËýÀ²½¤äÊâ¹Ôº¤Æñ¡¢ÊÑ·ÁÀ´ØÀá±ê¡¢¸Ô´ØÀá·ÁÀ®ÉÔÁ´ |
³°È¿É¨(¤¬¤¤¤Ï¤ó¤·¤Ä)¡£É¨¤¬¤¯¤Ã¤Ä¤µ¤Ì£¤ÇµÓ¤Î»ØÀ褬³°Â¦¤ËÎ¥¤ì¤ëÊÑ·ÁŪ¤Ê¹ü³Ê¡£Ã±¤Ë¹ü³Ê¤À¤±¤¬°äÅÁ¤·¤¿¤â¤Î¡¢Â¾¤Î¼À´µ¤Î±Æ¶Á¤ò¼õ¤±¤¿¤â¤Î¡¢ÉÂŪ¤Ê¤Û¤É¤Ç¤Ï¤Ê¤¤¤â¤Î¤Ê¤É¤¬¤¢¤ë¡£
½é´ü¤Îº¢¤Ï¥ì¥ó¥È¥²¥ó¤Ç¤Î¿ÇÃǤÏÆñ¤·¤¯¡¢3DCT¤ÇÂçÂܹüðôÉô¤ÈÂçÂܹü¹ü´´Éô¤Î³ÑÅÙ(ðôÂγÑ)¡¢æú¹ü(¤±¤¤¤³¤Ä¡¦É¨¤«¤é¼ó¤Þ¤Ç¤ÎÂÀ¤¤Êý¡¦Ê۷Ĥε㤽꤬¤¢¤ëÊý¤ÎĹ¹ü)¾åÌ̤Èɨ¤ËÀܤ¹¤ëÌ̤γÑÅ٤ʤɤ«¤é³ÎÄê¿ÇÃÇ |
* | ¥»¥ó¥È¥Ð¡¼¥Ê¡¼¥É¡¢Âç·¿¸¤ |
251 |
Gingival hypertrophy »õÆùÈîÂç¾É |
»þ´Ö¤ò¤«¤±¤Æ½ù¡¹¤Ë»õ·Ô¤¬¸Ç¤¯¼ð¤ì¤Æ¤¤¤¡¢»õ·Ô¤¬»õ¤òʤ¤Ã¤Æ¤·¤Þ¤¤¼¡Âè¤Ë¤â¤Î¤¬³ú¤á¤Ê¤¯¤Ê¤ë¡£¤½¤ÎºÝÄˤߤϾ¯¤Ê¤¤¤È¹Í¤¨¤é¤ì¤Æ¤¤¤ë¤¬¼ð¤ì¤¿»õ·Ô¤Ë¿©Êª¤¬Åö¤¿¤ë¤³¤È¤Ç±ê¾É¤òµ¯¤³¤¹¾ì¹ç¤â¿¤¯¥È¥é¥Ö¥ë¤Ë¤Ê¤ê¤ä¤¹¤¤¡£¸ý¹ÐÆâ¤ÎÀ¶·é¤òÆü¾ïŪ¤ËÊݤĤ³¤È¤Ç¾Íè¤ÎÂ礤ʼð¤ì¤òËɤ²¤ë¥±¡¼¥¹¤¬Â¿¤¤¤è¤¦¤À¡£¹³¤±¤¤¤ì¤óÌô¤ÎÉûºîÍѤǤⵯ¤³¤ê¤ä¤¹¤¤¡£ | »õÆùÁý¿£¡¢»õÆùÈî¸ü¤È¤â¡£ | * | * |
306 |
Hip dysplasia ¸Ô´ØÀá·ÁÀ®ÉÔÁ´ |
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¤ê¼êÂÀè¤ÎÉý¤¬¾®¤µ¤¤ |
¸Ô´ØÀá¤Î·ÁÂÖŪ¡Ê²ò˶³ØŪ¡Ë¤Ê°Û¾ï JAHD¡Ö¸Ô´ØÀá·ÁÀ®ÉÔÁ´¤È¤Ï¡× |
¿°ø»Ò¡Ü´Ä¶Í×°ø | * |
359 |
Incomplete ossification of the humeral condyle ¾åÏÓ¹üðù¤ÎÉÔ´°Á´¹ü²½ |
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 ìì¹Ô |
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¤òͤ¹¤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 ???»õʤÓ???ÀÚ»õ |
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 |
¶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 | * |
435 |
Muscular dystrophy, dysphagia-associated *Óë²¼¾ã³²¿ïȼÀ¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼ |
¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼»²¾È | 99ǯÓë²¼¾ã³²¤Î¸¤¤¬Ê£¿ôƬ¤¤¤Æ¸¤¼ï¤¬¥Ö¡¼¥Ó¥¨¥Ç¥Õ¥é¥ó¥À¡¼¥¹¤Ð¤«¤ê¤Ç¤·¤«¤âÁ´Æ¬¿ÆÀ̸¤¤À¤Ã¤¿¤È¤¤¤¦Êó¹ð | unknown | ¥Õ¥é¥ó¥À¡¼¥¹ |
436 |
Muscular dystrophy, limb-girdle, type 2E *»èÂÓ2E·¿¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼ |
·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 *»èÂÓ2F·¿¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼ |
·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¥ÒÉ |
À¸¸å¤¹¤°¤«¤éÁ´ÈÌÀ¤Î¶ÚÎÏÄã²¼¤È¶Ú°à½Ì¡¢¸Ô´ØÀáæ±± | ¼ê¤αó°Ì¤Î´ØÀ᤬¤ä¤ï¤é¤«¤¯¡¢ÇØÃæ¤ä¼ó¤¬¹Å¤¯Æ°¤¤¬¤è¤¯¤Ê¤¤¡Ê±ó°Ì´ØÀá¤Î²á¿Å¸¤È¶á°Ì´ØÀá¤Î¹´½Ì¤òȼ¤¦¡Ë | AR | ¥é¥Ö¡¢¥é¥ó¥É¥·¡¼¥¢ |
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¶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¡¢ |
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¡£ 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 | ¥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 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 | * |
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 |
À¸¤Þ¤ì¤Ä¤¶ÚÎϤÎÄã²¼¤È¶Ú¶ÛÄ¥¤ÎÄã²¼¤¬¸«¤é¤ì¤ë | ¾É¾õ¤ÏÀèÅ·À¥ß¥ª¥Ñ¥Á¡¼¤È¤Û¤ÜƱ¤¸ | unknown | * |
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´¡¢ÉôʬÀ̵»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¤äǤʤɾưʪ |
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¡¦°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¥¢ |
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¤¬Í̾ ´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±ÉÍÜ¾É |
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¤ëͱפÊÎ×¾²±þÅú¤¬ÌȱֲðºßÉ°ø¤òɽ¤¹¡£ |
unknown | ¥Ó¥º¥é |
582 |
Prognathism ²¼³ÜÁ°Æ;ɡ¢³ÜÁ°ÆÍ¾É |
¾å³Ü¹ü¤è¤ê²¼³Ü¹ü¤¬Â礤¤¤¿¤á²¼¤¢¤´¤¬Á°¤Ë½Ð¤ë¾õÂÖ | ¹ü³Ê¤Îñ½ã¤ÊÍ¥À°äÅÁ(¥Ò¥È¤Ç¤Ï¥Ï¥×¥¹¥Ö¥ë¥°²È¤ÇÍ̾)¤Î¾¡¢À夬°Û¾ï¤ËÂ礤«¤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¡¨¸¤¤ÈǤβò˶¥»¥ß¥Ê¡¼-´ðÁäÈÎ×¾²-96ǯ¥¤¥ó¥¿¡¼¥º¡¼È¯¹Ô) |
unknown | * |
691 |
Van den Ende-Gupta syndrome ¥ô¥¡¥ó¡¦¥Ç¥ó¡¦¥¨¥ó¥Ç¡¦¥°¥×¥¿¾É¸õ·² |
²¼³Ü¤ä»Í»è¤Î²á¹ü¡¢¹ü²á¾ê |
Gene: SCARF2 ¥Ò¥È¤ÎCaffeyÉ¡ÊÍÄ»ùÀ¹üÈé¼Á¹ü²á¾ê¾É¡Ë¤ËÎà»÷¡¢»²¹Í¡§ Raine¾É¸õ·²¡ÊÃ×»àÀ¹ü¹Å²½À¹ü°Û·ÁÀ®¡Ë |
unknown | ¥ï¥¤¥¢¥Õ¥©¥Ã¥¯¥¹ |