¸¤¼ïḚ̂äÅÁÀ¼À´µ(07ǯÅÙÅÐϿƬ¿ô½ç) | 1°Ì¥À¥Ã¥¯¥¹¥Õ¥ó¥È | 2°Ì¥Á¥ï¥ï | 3°Ì¥×¡¼¥É¥ë | 4°Ì¥è¡¼¥¯¥·¥ã¡¼¥Æ¥ê¥¢ | 5°Ì¥Ý¥á¥é¥Ë¥¢¥ó |
---|
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 |
ÌÜ¡¦¼ª¡¦É¡¡¡¡¡¡¡¡¡¡¡79 (16) |
---|
ÄÌÈÖ | ¼À ´µ ̾ | ¼ç ¤Ê ¾É ¾õ | È÷¡¡¡¡¡¡¡¡¡¡¹Í | °äÅÁ·ÁÂÖ | ¼ç¤Ê³ºÅö¸¤¼ï |
---|---|---|---|---|---|
4 |
Achromatopsia (cone degeneration, hemeralopia), AMAL ¿§³Ð°Û¾ï(¿íÂÎÊÑÀ¡¢ÃëÌÕ) |
AMAL·¿¡©¡¡Äã»ëÎÏ¡¢æ·ÌÀ¡¢´ã¿¶ |
Gene: CNGB3 ¥Ò¥È¤Î¾ì¹ç¤Ï²«ÎФÈÎФȿ忧¤¬Æ±¤¸¿§Ä´¤Ë¸«¤¨¤ë¡¢Ãæ¿´À»ëÎϤȿ§Ä´Ãγо㳲 Æý»ù´ü´ã¿¶Åù |
AR | ¥Þ¥é¥ß¥å¡¼¥È¡¢¥Ï¥¹¥¡¼¡¢¥ß¥Ë¥Á¥å¥¢¥ª¡¼¥¹¥È¥é¥ê¥¢¥ó¥·¥§¥Ñ¡¼¥É |
5 |
Achromatopsia (cone degeneration, hemeralopia), GSPT ¿§³Ð°Û¾ï(¿íÂÎÊÑÀ¡¢ÃëÌÕ) |
GSPT·¿¡©¡¡Äã»ëÎÏ¡¢æ·ÌÀ¡¢´ã¿¶ |
Genes: CNGB3 ÃëÌդȤÏÌÀ¤ë¤¤½ê¤Ë¤ª¤±¤ë»ëÎϤ¬°Å¤¤½ê¤Ë¤ª¤±¤ë»ëÎϤè¤êÎô¤ë¾É¾õ¡£»ë¿À·Ð±ê¤Ê¤ÉÌÖËì¿í¾õÂΤε¡Ç½¾ã³²¤ÎºÝ¤Ë¤ß¤é¤ì¤ë¡£¿§³Ð¤Î´ðÁäȤʤë¿íÂκÙ˦(¤½¤Î·Á¾õ¤«¤é±ß¿íºÙ˦¤È¤â¸Æ¤Ð¤ì¤ë)¤Ï´¶ÅÙ¤¬Ä㤤¤¿¤á½¼Ê¬¤Ê¸÷Î̤òɬÍפȤ¹¤ë¡£ÛåÂκÙ˦¤ÏñÆÈ¤Î»ëʪ¼Á¤Î¤ß¤òȯ¸½¤¹¤ë¤¿¤á¿§³Ð¤Ë¤Ï´ØÍ¿¤·¤Ê¤¤¤¬¡¢´¶ÅÙ¤¬¹â¤¤¡£°Å½ê¤Ç¤Ï¿íÂκÙ˦¤Ï¤Û¤È¤ó¤ÉƯ¤«¤º¡¢ÛåÂκÙ˦¤¬Æ¯¤¯¡£ÌëÌÕ(Nyctalopia)¤Ï°Å¤¤½ê¤Ç¤è¤¯¸«¤¨¤Ê¤¤¾õÂÖ¡£ 2012ǯÄɲà |
AR | GS¥Ý¥¤¥ó¥¿¡¼ |
6 |
Achromatopsia-2 ¿§³Ð°Û¾ï(¿íÂÎÊÑÀ¡¢ÃëÌÕ) 2 |
2·¿¡©¡¡Äã»ëÎÏ¡¢æ·ÌÀ¡¢´ã¿¶ |
Gene: CNGB3 ¿íÂλ뵡ǽ¾ã³²¡¢¿¼¹ï¤Ê»ëÎÏÄã²¼¡¢¸ºÂ»¤Þ¤¿¤Ï´°Á´¤Ê¿§Ìդ俷ÌÀ¤Ë¤è¤Ã¤Æ¸½¤ì¤ëÀèÅ·À¾ïÀ÷¿§ÂÎÎôÀÌÖËì¼À´µ |
AR | ¥é¥Ö¡¢G¥·¥§¥Ñ¡¼¥É |
35 |
Aphakia ̵¿å¾½ÂÎ¾É |
ÀèÅ·À¤ÏÌÕÌÜ¡¢Æó¼¡À¤Ï¶¯Å٤αó»ë¡¢Â¾¤Î´ã¼À´µÊ»È¯(̵¿å¾½ÂξÉÇòÆâ¾ã¤ä̵¿å¾½ÂξÉÎÐÆâ¾ã¡¢Ìµ¿å¾½ÂÎÀ¿åá×À³ÑËì¾É¤Ê¤É) | ³ÑË캮Âù¡¢Æ·¹¦¤Î·çÇ¡¡¢¥Ò¥È¤Ç¤Ï¼ç¤ËÇòÆâ¾ã¤Î¼ê½Ñ¸å¤Î¿å¾½ÂΤò¼è¤êµî¤Ã¤¿¾õÂÖ¤ò¸À¤¦¡£ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥»¥ó¥È¥Ð¡¼¥Ê¡¼¥É |
60 |
Autosomal dominant PRA ¾ïÀ÷¿§ÂÎÍ¥À¿Ê¹ÔÀÌÖËì°à½Ì¾É |
PRA»²¾È |
Gene: RHO ¾ïÀ÷¿§ÂÎÍ¥À¤È¤ÏÀº¹¤¬¤Ê¤¯¾ïÀ÷¿§Âξå¤Ë¸ºß¤¹¤ë1ÂФΰäÅÁ»Ò¤Î°ìÊý¤Ë°Û¾ï¤¬¤¢¤ì¤Ðȯ¾É¤¹¤ë¡£È¯¾É¸ÄÂΤÏÄÌ¾ï¤Ø¥Æ¥íÀܹç¤Ç¡¢»Ò¤ËÅÁ¤¨¤ë³ÎΨ¤ÏÅöÁ³50% |
AD | B¥Þ¥¹¥Á¥Õ¡¢E¥Þ¥¹¥Á¥Õ |
61 |
Bardet-Biedl syndrome 4 ¥Ð¥ë¥Ç¡¼¡¦¥Ó¡¼¥É¥ë¾É¸õ·² |
ÈîËþ¡¢ÌÖËì¿§ÁÇÊÑÀ¾É¡¢ËýÀ¿Õ¾ã³²¡¢ÀÁ£µ¡Ç½Äã²¼¾É¡Ê̵ȯ¾ð¡Ë¡¢Â¿»Ø¾É¡¦¹ç»Ø¾É |
Gene: BBS4 ¥Ò¥È¤Ç¤ÏÆñÉÂÂоݤÇÃÎǽ¾ã³²¤òȼ¤¦AR¤¬ÃΤé¤ì¤Æ¤¤¤ë¢ªAR³ÎÄê07/17 |
AR | ¥×¡¼¥ê¡¼ |
91 |
Cataract, early onset Áá´üȯ¾É·¿ÇòÆâ¾ã |
¼ãǯÀ(Ìܰ¤Ȥ·¤Æ6ºÐ°ÊÁ°)¿å¾½ÂΤÎÇòÂù |
Genes: HSF4 ºÇ½ªÅª¤Ë¤Ï»ëÎϤÎÁÓ¼º¡£PRA¤Ê¤É¾¤Î´ã²Ê¼À´µ¤Î¹çÊ»¾É¤È¤·¤Æ¤â¸½¤ì¤ë¡£¿Ê¹ÔÅٹ礤¤¬µÞ¤Ç¤¢¤ì¤ÐÅüǢɤ⵿¤¨¤ë¡£Áá´üȯ¸«¤ÏÆâÉþÌô¤ÈÅÀ´ãÌô¤Ç¿Ê¹Ô¤òÃ٤餻¤ë¼£ÎŤ¬¤Ç¤¤ë¤³¤È¤â¤¢¤ë |
AR | A¥³¥«¡¢¥´¥ë¡¢M¥·¥å¥Ê |
92 |
Cataract, generic ÇòÆâ¾ã |
¿å¾½ÂΤÎÇòÂù | Ï·ÎðÀ¡¢ÅüÇ¢ÉÂÀ¡¢³°½ýÀ¡¢ÆâʬÈçÀ¡¢ÃæÆÇÀ¤Î¸åÅ·À¤Î¤â¤Î | AD | ¿ |
105 |
Choanal atresia ¸åÉ¡¹¦Êĺ¿¾É |
¸ÆµÛ¤¬¤·¤Ë¤¯¤¤¡¢¥ß¥ë¥¯¤òÅǤ¯¤Ê¤É |
¸åÉ¡¹¦(2¤Ä¤ÎÉ¡¤Î·ê¤ÏÄ̾±ü¤ÎÊý¤Ç1¤Ä¤Ë¤Ê¤ê°ö¤Ë·Ò¤¬¤Ã¤Æ¤¤¤ë)¤¬Êĺ¿¤µ¤ì¤Æ¤¤¤ë¾õÂÖ¡£(É¡¤«¤éºÙ¤¤´É¤òÆþ¤ì¤Æ°ö¤ËÄ̤¸¤ë¤«¤ß¤ë) 2013ǯ1·îÄɲà |
unknown | * |
113 |
Ciliary dyskinesia, primary ¸¶È¯ÀÁ¡ÌÓ±¿Æ°¾ã³²¡¢Á¡ÌÓÉÔÆ°¾É |
ξ¦ÀËýÀŪ¤ÊÉ¡½Á¡¢¼¾¤Ã¤¿³±¡¢ÇÙ±ê |
Priamry Ciliary Dyskinesia(PCD)¤È¤â¸Æ¤ÖÊÌ̾¥¢¥¤¥ê¥Ã¥·¥å¥¦¥ë¥Õ¥Ï¥¦¥ó¥É¤ÎÉ¡±ê ½ÐÀ¸»þ¤«¤éÃû¸õ¤¬¤¢¤ë¤¬¸ÄÂκ¹¤¬Â礤¤¡£À¸¤Þ¤ì¤¿¤Æ¤Çǿɡ½Á¤¬¸«¤é¤ì¤ë»Ò¸¤¤ÏÁá´ü»àË´¡£°ÊÁ°¤Ï¥¦¥¤¥ë¥¹´¶À÷¤È¸À¤ï¤ì¤Æ¤¤¤¿¡£µ¤´É»Ù³ÈÄ¥¾É¡¢ÉûÉ¡¹Ð±ê¡¢Æâ¡ȿž¤ò»°Âç¼çħ¤È¤¹¤ë¥«¥ë¥¿¥²¥Ê¡¼¾É¸õ·²»²¾È(Æâ¡¤Î°ÌÃ֤˰۾ï¤Î¤Ê¤¤Á¡ÌӤξ㳲¤Î¤è¤¦¤À) |
AR | IW¥Ï¥¦¥ó¥É¡¢OE¥·¡¼¥×¥É¥Ã¥°¡¢E¥¹¥×¥ê¥ó¥¬¡¼¡¢¥Ë¥å¡¼¥Õ¥¡¥ó¡¢¥¹¥¿¥Ã¥Õ¥£¡¼ |
136 |
Collie eye anomaly ¥³¥ê¡¼´ã°Û¾ï |
»ëÎϼ岽¡¢ÄøÅ٤ˤè¤Ã¤Æ¤Ï¼ºÌÀ |
Gene: NHEJ1 »ëÎϤ¬¼å¤Þ¤ë¤À¤±¤Î¤³¤È¤â¤¢¤ê¡¢ÉÂÊѤ˵¤¤¬¤Ä¤«¤Ê¤¤¥±¡¼¥¹¤â¿¡¹¤¢¤ë¡£¤½¤Î¤¿¤á°äÅÁɤȤ·¤Æ¹¤²¤ä¤¹¤¤¡£5¡Á8½µÎð¤Ç¤Î¸¡ºº¤òÈË¿£¼Ô¤¬¼Â»Ü¤·ÈË¿£ÅñÂÁ¤¹¤ë¤³¤È¤¬Í½ËɤˤĤʤ¬¤ë |
AR | ËÒÍѸ¤ |
137 |
Coloboma ¥³¥í¥Ü¡¼¥Þ¡¢´ã(¤¬¤ó)·ç»¾É |
ÄøÅ٤˱þ¤¸¤ÆÍÍ¡¹¤Ê»ë³Ð¾ã³² | ´ãµåÁÈ¿¥¤Î°ìÉô(¤Þ¤¿¤ÏÁ´Éô)¤Î·ç»*¡£Ìµ´ãµå¡¦¾®´ãµå¡¢ÆúºÌ¤Î¥È¥é¥Ö¥ë¡¢Ì®ÍíËì¤ä»ë¿À·Ð¤Î¥È¥é¥Ö¥ë¤Ê¤É¡£ÆúºÌ¤ËÂ礤ʷ绤ò»ý¤Ä¸¤¤ÏÌÜ¤ËÆþ¤ë¸÷¤ÎÎ̤òÄ´À᤹¤ë¤¿¤á¤ËÆúºÌ¤¬½Ì¾®¤Ç¤¤Ê¤¤¤Î¤ÇÉáÄ̤ÎÌÀ¤ë¤µ¤Çæ·ÌÀ¤¬¸«¤é¤ì¤ë(âÁ¤·¤µ¤ËÌܤòºÙ¤á¤¿¤êÊĤ¸¤¿¤ê¤¹¤ë) | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | A¥·¥§¥Ñ |
141 |
Cone-rod dystrophy 1 Û¸ÂοíÂÎ¥¸¥¹¥È¥í¥Õ¥£¡¼1 |
ÌëÌÕ¡¢»ëÌî¶¹ºõ¡¢»ëÎÏÄã²¼¡¢¼ºÌÀ |
Gene: PDE6B ÌÖËì¿§ÁÇÊÑÀ¾É¤Î¤¦¤Á¡¢»ëºÙ˦¤ÎÛ¸ÂκÙ˦¡¦¿íÂκÙ˦¤ÎξÊý¤ÎÊÑÀ¤Î¤³¤È¡£Áá´üȯ¾É¡ÊÀ¸¸å2¥õ·îÁ°¸å¡Ë¡¢¥í¥Ã¥É¤È¥³¡¼¥ó¤Î»¼º¤ÏµÞ®¤Ë¿Ê¹Ô |
AR | ¥¢¥à¥¹¥¿ |
142 |
Cone-rod dystrophy 2 Û¸ÂοíÂÎ¥¸¥¹¥È¥í¥Õ¥£¡¼2 |
ÌëÌÕ¡¢»ëÌî¶¹ºõ¡¢»ëÎÏÄã²¼¡¢¼ºÌÀ |
Gene: IQCB1 ¾åµ¥¢¥à¥¹¥¿¤Î¥¿¥¤¥×£±Æ±ÍÍÁá´üȯ¾É¡ÊÀ¸¸å3¥ö·îÁ°¸å¡Ë¤ÇµÞ®¿Ê¹Ô·¿¤È¡¢¤æ¤Ã¤¯¤ê¿Ê¹Ô¤¹¤ë¥¿¥¤¥×¤â¤¢¤ë |
AR | ¥Ô¥Ã¥È |
143 |
Cone-rod dystrophy 3 Û¸ÂοíÂÎ¥¸¥¹¥È¥í¥Õ¥£¡¼3 |
ÌëÌÕ¡¢»ëÌî¶¹ºõ¡¢»ëÎÏÄã²¼¡¢¼ºÌÀ |
Genes: ADAM9 ÌÖËì¿§ÁÇÊÑÀ¾É¤Î¤¦¤Á¡¢»ëºÙ˦¤ÎÛ¸ÂκÙ˦¡¦¿íÂκÙ˦¤ÎξÊý¤ÎÊÑÀ¤Î¤³¤È¡£¤³¤Î¥¿¥¤¥×¤Ï¿Ê¹Ô¤¬¤æ¤Ã¤¯¤ê |
AR | ¥°¥ì¥ó¥ª¥Ö¥¤¥Þ¡¼¥ë¥Æ¥ê¥¢ |
144 |
Cone-rod dystrophy 4 Û¸ÂοíÂÎ¥¸¥¹¥È¥í¥Õ¥£¡¼4 |
ÌëÌÕ¡¢»ëÌî¶¹ºõ¡¢»ëÎÏÄã²¼¡¢¼ºÌÀ |
Genes: RPGRIP1 ÌÖËì¿§ÁÇÊÑÀ¾É¤Î¤¦¤Á¡¢»ëºÙ˦¤ÎÛ¸ÂκÙ˦¡¦¿íÂκÙ˦¤ÎξÊý¤ÎÊÑÀ¤Î¤³¤È¡£È¯¾ÉǯÎð¤Ï4¥ö·î¤«¤é15ºÐ¤ÈÉý¹¤¯¿Ê¹Ô¤Ï¤¿¤¤¤Æ¤¤¤æ¤Ã¤¯¤ê¡£¥¿¥Ú¥¿¥àÈ¿¼ÍÀж¿Ê¤ÈÌÖËì·ì´É¤Î¸ºÂà¡¢¥¿¥Ú¥¿¥à¤Îγ¾õÊÑÀ¡¢¸÷¼õÍÆÂΤÎÂಽ¤¬À¸¸å6¥ö·îº¢¤Î´ãÄ측ºº¤ÇȽÌÀ? |
AR | ML¥À¥Ã¥¯¥¹ |
145 |
Cone-rod dystrophy, Standard Wire-haired Dachshund ¥¹¥¿¥ó¥À¡¼¥É¥ï¥¤¥ä¡¼¥À¥Ã¥¯¥¹¤ÎÛ¸ÂοíÂÎ¥¸¥¹¥È¥í¥Õ¥£¡¼ |
ÌëÌÕ¡¢»ëÌî¶¹ºõ¡¢»ëÎÏÄã²¼¡¢¼ºÌÀ |
Gene: NPHP4¡¡ ¥Î¥ë¥¦¥§¡¼¤È¾¤Î¥¹¥«¥ó¥¸¥Ê¥Ó¥¢½ô¹ñ¤Î¥¹¥¿¥ó¥À¡¼¥É¥ï¥¤¥¢¡¼¥Ø¥¢¡¼¥É¥À¥Ã¥¯¥¹¥Õ¥ó¥È½¸ÃÄÆâ¤Ç¤Î°äÅÁ»ÒÉÑÅÙ¤Ï4.8%¤È¿äÄꤵ¤ì¤Æ¤¤¤ë¡£¤³¤Î¼À´µ¤ÏÌó8À¤Âå(Ìó37ǯ)Á°¤ËÆÍÁ³ÊѰۤˤè¤Ã¤ÆÀ¸¤¸¤¿¤È¿äÄꤵ¤ì¤Æ¤¤¤ë¡£ ¸¶°ø°äÅÁ»Ò¤Ï5ÈÖÀ÷¿§Âξå¤Ë¤¢¤ëNPHP4(¥Í¥Õ¥í¥ó4)¤Ç¡¢¥Ò¥È¤Ç¤Ï¤³¤ÎÊѰۤ¬Ìܤȿաɤ˴ØÏ¢ÉÕ¤±¤é¤ì¤Æ¤¤¤ë¤¬¡¢¤³¤Î¼À´µ¤Ï¿Õ¡¼À´µ¤Ï̵¤¤ |
AR | SW¥À¥Ã¥¯¥¹ |
146 |
Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis ÀèÅ·À´¥À³Ñ·ëËì±ê¤ÈµûÎÚáý |
½ÌÌÓ¡¢¥É¥é¥¤¥¢¥¤¡¢³Ñ·ëËì±ê¡¢Äޤΰ۾ï |
Gene: FAM83H¡¡ ¥É¥é¥¤¥¢¥¤¥«¡¼¥ê¡¼¥³¡¼¥È¾É¸õ·² |
AR | ¥¥ã¥Ð¥ê¥¢ |
149 |
Corneal dermoid ³ÑËìÎàÈé¾É |
Ä̾ï³ÑËì¤Î¤¢¤ëÉôʬ¤ËÈéÉæ¤¬¤¢¤ê¡¢ÌÓ¤¬¤Ï¤¨¤¿¤ê¤¹¤ë¤³¤È¤â¤¢¤ë¡¢ÆúºÌ¤ÎÂù¤ê¡¢Îޤξ㳲 | °Û¾ï¤ÊÈéÉæÁÈ¿¥¤¬ÌܤäâÛ¤ËȯÀ¸¤¹¤ë¼À´µ¡¢´ãµå¤Ø¤Î»É·ã¤òÊüÃÖ¤¹¤ë¤È½Å½ý¤Ë¤Ê¤ë¤Î¤Ç³°²Ê¼ê½Ñ¤¬ºÇÁ± | * | ¥·¡¼¥º¡¼ |
150 |
Corneal dystrophy ³ÑË쥸¥¹¥È¥í¥Õ¥£¡¼ |
Ãæ±û¤Þ¤¿¤Ï¤Û¤ÜÃæ±û¤Î³ÑËì¤Ë³¥Çò¿§¤«¶ä¿§¤Î±ß·Á¤Î¥ê¥ó¥°¾õ¤ÎÇòÂù¡¢¼ºÌÀ¤¹¤ë¾ì¹ç¤â¤¢¤ë(¿Ê¹Ô¤Ï¤æ¤Ã¤¯¤ê¤á) |
³ÑËì¤Î1¤Ä¤Þ¤¿¤ÏÊ£¿ô¤ÎÁؤ¬º¸±¦ÂоΤËÊÑÀ¤¹¤ë³ÑËìÊÑÀ¾É¡£3¤Ä¤Î¥¿¥¤¥×(¾åÈéºÙ˦´Ö¼Á¤È·ì´ÉÆâÈé?)¤¬¤¢¤ë¡£¥¿¥¤¥×¡¦¸¤¼ï¤Ë¤è¤Ã¤Æ¾É¾õ¤Ëº¹¤¬¤¢¤ê°äÅÁ·ÁÂÖ¤â°Û¤Ê¤ë¤è¤¦¤À¡£ÉÂÊѤÏÌܤ˽Ф뤬Âå¼Õ¤Ë¸¶°ø¡£³ÑËì¤Ë²¿¤«¤ÎÀ®Ê¬¤¬ÉÕÃ夷(¥³¥ì¥¹¥Æ¥í¡¼¥ë¤ä¥«¥ë¥·¥¦¥à)Çò¤¯ÄÀÃ夷»ëÎϤ˾㳲¤òÍ¿¤¨¤ë ¢¨ÇòÆâ¾ã¤Ï¿å¾½ÂΤ¬ÇòÂù¤¹¤ëɵ¤ |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¿ |
159 |
Cyclopia ñ´ã¾É |
¥µ¥¤¥¯¥í¥Ô¥¢¡£Ìܤ¬°ì¤Ä¡£ | ¤Û¤«¤Î¼À´µ¤Î¹çÊ»¡¢¤Û¤«¤Ë¤â´ñ·Á¤¬Â¿È¯ | ÉÔÌÀ | * |
165 |
Deafness Æñİ |
¼ª¤¬Ê¹¤³¤¨¤Ê¤¤¡¢Ê¹¤³¤¨¤Ë¤¯¤¤ | ÌÓ¿§(¥Ñ¥¤¥Ü¡¼¥ë¥É°ø»Ò¡¢¥Þ¡¼¥ë°ø»Ò)¤Ë´ØÏ¢¤¹¤ë¤³¤È¤â¤¢¤ê¡¢¤È¤¯¤Ë¥À¥Ö¥ë¥Þ¡¼¥ë(M¥·¥ê¡¼¥º¤¬Í¥ÀMM¥Û¥â)¤ÏÂçȾ¤¬»ëİ³Ð¤Ë¥È¥é¥Ö¥ë¤ò»ý¤Ä | AR | ¥À¥ë¡¢¥¸¥ã¥Ã¥¯¡¢¥Ý¥¤¥ó¥¿¡¼¤Ê¤É¿ |
166 |
Deafness, adult-onset À®¸¤È¯¾É·¿Æñİ |
¼ª¤¬Ê¹¤³¤¨¤Ê¤¤¡¢Ê¹¤³¤¨¤Ë¤¯¤¤ | 1ºÐ¤«¤é9ºÐ¤¯¤é¤¤¤Î´Ö¤Ëȯ¾É¡¢Ê¿¶ÑŪ¤Ë¤Ï4ºÐ¤³¤í | unknown | ¥Ü¡¼¥À¡¼ |
182 |
Distichiasis âÌÌÓ½ÅÀ¸ |
Æó½Å¤Þ¤Ä¤² | ¤Þ¤Ä¤²¤¬2Îó¤ËÀ¸¤¨¤ë¡£³ÑËì±ê¤Ê¤É¤Ë¤Ä¤Ê¤¬¤ë | ¿°ø»Ò | ¿ |
191 |
Early retinal degeneration Áá´üÌÖËìÊÑÀ |
ÌëÌÕ¡¢Æ·¹¦¼ý½ÌÃÙ±ä |
Gene: STK38L ÌÖËì¤Î¸÷¤ò¼õ¤±¤ëÉôʬ¤Î¿À·ÐºÙ˦¤Îȯã°Û¾ï¡£¼õÍÆÂΤÎÁá´üÂಽ¡¦ºÙ˦»àÌÇ¡£À¸¸å¿ô½µ¡Á¿ô¤«·î¤Ëȯ¾É¡¢ |
AR | N¥¨¥ë¥¯¥Ï¥¦¥ó¥É |
199 |
Ectropion ³°È¿¡¢´ãâÛ³°È¿ |
Ìܤδ¥Áç¤Þ¤¿¤ÏήÎÞ¡¢½¼·ì¡¢»É·ã´¶ | ´ãâÛ¤¬³°¸þ¤¤Ë¤Ê¤Ã¤¿¾õÂÖ¡¢ÈéÉæ¤ÎÉÂÊѤä(µûÎÕáý)¸ý¿°¸ý³¸Îö¡¢µð¸ý¾É¡¢Ç¾¿À·Ð¥È¥é¥Ö¥ë¤òȼ¤¦¥±¡¼¥¹¤â¤¢¤ë | AD¤« | ¥·¥ã¡¼¥Ú¥¤ |
209 |
Entropion ´ãâÛÆâÈ¿¾É¡¢âÌÌÓÆâÈ¿¾É |
µÕ¤Þ¤Ä¤² | µÕ¤Þ¤Ä¤² | unknown | * |
219 |
Epistaxis É¡½Ð·ì |
É¡½Ð·ì | 2005ǯ¤Î¥Î¡¼¥¹¥«¥í¥é¥¤¥ÊÂç³Ø¤ÎÄ´ºº¤ÇÉ¡½Ð·ì¤Î3³ä¤Î¸¤¤¬¥Ð¥ë¥È¥Í¥é¾É(ǤҤ䫤ÉÂ)´¶À÷¤Ë´ØÍ¿¤·¤Æ¤¤¤¿Êó¹ð¤¬¤¢¤ë | unknown | * |
224 |
Eye colour Ìܤο§ |
ÀÄ¿§¤ÎÌÜ | ¾®´ãµå¾É´ØÏ¢Å¾¼Ì°ø»ÒMITF¤ÎÌò³ä¤Î¸¦µæ¡¢¥À¥ë¥á¥·¥¢¥ó¤ÎÀĤ¤Ìܤȴ¶²»ÆñݤÈÇòÈäδط¸À | unknown | ¥À¥ë |
225 |
Eye defects ´ã·ç»¾É |
ÌܤΰìÉô¤Þ¤¿¤ÏÁ´Éô¤¬·ç»¤·¤Æ¤¤¤ë¾õÂÖ | ¸¤¤Î°äÅÁÀÌÖËìÊÑÀ¤Ï¡¢¿Ê¹ÔÀÌÖËì°à½Ì¾É¡¢ÌÖËì¿§ÁǾåÈ饸¥¹¥È¥í¥Õ¥£¡¼¡¢ÀèÅ·ÀÄê¾ïÌëÌÕ¡¢ÃëÌդʤɤ¬¤¢¤ë | unknown | * |
249 |
Generalized PRA ¿Ê¹ÔÀÌÖËì°à½Ì¾É |
¿Ê¹ÔÀ¤ÎÌÖËì¤Î°à½Ì¡¢¼ºÌÀ | Gene: CCDC66 | AR | ¥·¥ã¡¼¥Ú¥ó¥É¡¼¥º |
252 |
Glaucoma, generic ÎÐÆâ¾ã |
»ëÌî·ç»¡¢»ëÎÏÄã²¼¡¢´ã°µ¤Î¾å¾º¤Ê¤É¤Ë¤è¤ëÄˤߡ£ÆúºÌ¤äÌÓÍÍÂΤΰà½Ì¡¢¿å¾½ÂΤä¾Ë»ÒÂΤÎÊÑÀ¤Ê¤ÉÍÍ¡¹¤ÊÊѲ½ | ÎÐÆâ¾ã¤ÏÌÖËì¿À·ÐÀáºÙ˦¤¬»àÌǤ¹¤ë¿Ê¹ÔÀ¤Îɵ¤ | unknown | ¿ |
253 |
Glaucoma, primary closed-angle ¸¶È¯ÀÊĺɶù³ÑÎÐÆâ¾ã |
ÎÐÆâ¾ã»²¾È | * | unknown | ¥À¥ó¥Ç¥£ |
254 |
Glaucoma, primary open-angle ¸¶È¯À³«Êü¶ù³ÑÎÐÆâ¾ã |
ÎÐÆâ¾ã»²¾È |
Gene: ADAMTS10 ÀèÅ·ÀÎÐÆâ¾ã¤Ç¤ÏÁ°Ë¼¶ù³Ñ¤Î´ñ·Á¤¬ÆÃħŪ Vetgene¤Ç¥Ó¡¼¥°¥ë°äÅÁ»Ò¸¡ºº¥¢¥ê |
AR | ¥Ó¡¼¥°¥ë |
255 |
Glaucoma, primary open angle, ADAMTS10-related ADAMTS10´ØÏ¢·¿ ¸¶È¯À³«Êü¶ù³ÑÎÐÆâ¾ã |
* |
Gene: ADAMTS10 * |
AR | ¼Æ¡¢¥·¡¼¥º¡¼¡¢¥Ó¡¼¥°¥ë¡¢N¥¨¥ë¥¯ |
256 |
Glaucoma, primary open angle, ADAMTS17-related ADAMTS17´ØÏ¢·¿ ¸¶È¯À³«Êü¶ù³ÑÎÐÆâ¾ã |
* |
Gene: ADAMTS17 ¸µ¤ÎÉÂ̾Glaucoma, primary open angle, due to mutations in ADAMTS17(ADAMTS17¤Ë¤ª¤±¤ëÆÍÁ³ÊѰۤ˵¯°ø¤¹¤ë¸¶È¯À³«Êü¶ù³ÑÎÐÆâ¾ã) |
AR | ¥Ð¥»¥Ã¥È |
267 |
Golden Retriever PRA 1 ¥´¡¼¥ë¥Ç¥ó¥ì¥È¥ê¡¼¥Ð¡¼¤Î¿Ê¹ÔÀÌÖËì°à½Ì¾É¡¡1·¿ |
¿Ê¹ÔÀ¤ÎÌÖËì°à½Ì¤Ë¤è¤ë»ëÎϾ㳲¡¢¼ºÌÀ |
Gene: SLC4A3 SLC4A3·¿¡¡¥¹¥¨¡¼¥Ç¥ó¤Î¸¦µæ |
AR | ¥´¡¼¥ë¥Ç¥ó |
268 |
Golden Retriever PRA 2 ¥´¡¼¥ë¥Ç¥ó¥ì¥È¥ê¡¼¥Ð¡¼¤Î¿Ê¹ÔÀÌÖËì°à½Ì¾É¡¡2·¿ |
¿Ê¹ÔÀ¤ÎÌÖËì°à½Ì¤Ë¤è¤ë»ëÎϾ㳲¡¢¼ºÌÀ |
Gene: TTC8 TTC8·¿¡¡¿·µ¬ÊѰۡ¡ |
AR | ¥´¡¼¥ë¥Ç¥ó |
269 |
Goniodysplasia, mesodermal ÃææõÍÕÀ¶ö³Ñ(¤°¤¦¤«¤¯)·ÁÀ®ÉÔÁ´ |
* | Á°Ë¼·ÁÀ®°Û¾ï¤Ë¤è¤ëȯãÎÐÆâ¾ã | AR | ¥Ï¥¹¥¡¼ |
287 |
Hemeralopia ÃëÌÕ |
ÌÀ¤ë¤¤¾ì½ê¤Ç¤Î»ëÎϤ¬¼å¤¤ | ¿íÂÎ(¥³¡¼¥ó)ÊÑÀ¡¢Ãæ±û¿Ê¹ÔÀÌÖËì°à½Ì¾É(CPRA)¡£ÌÀ¤ë¤¤½ê¤Ë¤ª¤±¤ë»ëÎϤ¬°Å¤¤½ê¤Ë¤ª¤±¤ë»ëÎϤè¤êÎô¤ë¾É¾õ¤Ç | unknown | ¥×¡¼¥É¥ë¡¢¥°¥ì¥Ç¥ó |
304 |
Heterochromia °Û¿§¾É? |
* | * | unknown | * |
305 |
Heterochromia iridis ÆúºÌ°Û¿§¾É |
º¸±¦¤ÎÌÜ¤ÇÆúºÌ¤Î¿§¤¬°Û¤Ê¤ë¡¢¼ã¤·¤¯¤Ï°ìÊý¤ÎÆ·¤ÎÆúºÌ¤Î°ìÉô¤¬ÊÑ¿§ | #¥Û¥ë¥Í¥ë¾É¸õ·²¤ä#ÎÐÆâ¾ã¤Î¹çÊ»¾É¤Ê¤É¤È¤·¤Æ¸åŷŪ¤Ëȯ¾É¤¹¤ë¤³¤È¤â¤¢¤ë | unknown | * |
367 |
Iris atrophy ÆúºÌ°à½Ì¾É |
æ·ÌÀ | ÌÜ¤ËÆþ¤ë¸÷¤ÎÎ̤òÄ´À᤹¤ëµ¡Ç½¤ÎÄã²¼¡¢ÆúºÌ(Æ·¹¦¼þ°Ï¤ÎÌܤο§¤Î¤Ä¤¤¤¿Éôʬ)¶ÚÆù¤ÎÂಽ | unknown | ¥À¥Ã¥¯¥¹(¥À¥Ã¥×¥ë) |
368 |
Iris defects ÆúºÌ·ç»¾É |
¶þÀÞ°Û¾ï¤òȼ¤¨¤Ð»ëÎϾ㳲 | ÆúºÌ¤Î°ìÉô¤¬·ç»¤·¤¿¾õÂÖ¡£¤¿¤¤¤Æ¤¤¤ÏÆúºÌ¤Î²¼ÉôÃæ±û¤Ë±ß·Á¡¢¤È¤¤ËÍñ±ß·Á¤äÍü·¿¤Î³«¸ý¤È¤¤¤¦·Á¤Ç¤ß¤È¤á¤é¤ì¤ë¡£Á°¥Ö¥É¥¦Ëìǹ˦ | unknown | Ç |
370 |
Keratitis ³ÑËì±ê |
³ÑËì¤Î±ê¾É | Ìܤμð¤ì¡¢ÄÙáç¡¢ÈóÄÙáçÀ±ê¾É¡¢ÇòÌܤ˷ì´É¤¬ÌÜΩ¤Ä¡¢³ÑËì¤ÎÊÑ¿§¡¢Çò¤¤ÈÃÅÀ | unknown | * |
376 |
Leber congenital amaurosis (congenital stationary night blindness) ¥ì¡¼¥Ð¡¼ÀèÅ·À¹õÆâ¾ã(ÀèÅ·ÀÌëÌÕÄâºÂ) |
ÌëÌÕ |
ÌÖËì¿§ÁǾåÈ饸¥¹¥È¥í¥Õ¥£¡¼¡£ÌÖËì¤Î¿Ê¹ÔÀÊÑÀ¤ÇÌÖËì¾å¤ËÌÀ¤ë¤¤Ãã¿§¤Î¥Ñ¥Ã¥Á¤¬È¯¸½¤·È¿¼ÍΨ¤Î¹â¤¤ÆÞ¤Ã¤¿Îΰè¤òºîÀ®¤¹¤ë(ÀìÌç¤Î´ï¶ñ¤Ç¸¡ºº¤¹¤ë¡¢Æù´ã¤Ç¤Ï°Û¾ï¤Ï¤ï¤«¤é¤Ê¤¤) °äÅÁ»Ò¸¡ºº¥¢¥ê |
AR | ¥Ö¥ê¥¢¡¼¥É |
380 |
Lens luxation ¿å¾½ÂÎæ±± |
»ëÎÏÄã²¼¡¢ÌÖËì¤Ï¤¯Î¥¡¢Â³È¯ÀÎÐÆâ¾ã¡¢¼ºÌÀ |
Genes: ADAMTS17 ¤ï¤ê¤ÈÆÍÁ³¤Ë¿å¾½ÂΤòÊÝ»ý¤¹¤ë¿ÙÂӤλ½ý¤¬¸¶°ø¤Çæ±±(ž°Ì)¤¹¤ë¡£Â¿¤¯¤Ï3ºÐ°Ê¾å¤Çȯ¾É¡£¸åÊýæ±±¤Î¾ì¹ç¤Ï¸÷¤òÅö¤Æ¤ë¤È»°Æü·î·Á¤ÎÈ¿¼Í¤¬¸«¤é¤ì¤ë¤³¤È¤ä¡¢Ìܤòư¤«¤·¤¿¤È¤¤ËÆúºÌ¤¬Íɤì¤ë¤Ê¤É¤Î¾É¾õ¤¬¤ï¤«¤ë¤³¤È¤â¤¢¤ë |
AR | ¥¸¥ã¥Ã¥¯¡¢¥Á¥Ù¥¿¥ó¥Æ¥ê¥¢¡¢M¥Ö¥ë¥Æ¥ê¥¢¡¢¥·¥ã¡¼¥Ú¥¤ |
386 |
Ligneous membranitis ÌÚ¼Á·ëËì±ê |
»ëÎÏÄã²¼¡¢ÌÖËì¤Ï¤¯Î¥¡¢Â³È¯ÀÎÐÆâ¾ã¡¢¼ºÌÀ |
Gene: PLG ¥×¥é¥¹¥ß¥Î¡¼¥²¥ó·ç˳¡¢¥¹¥³¥Ã¥ÁØí´µ¸¤¤È¤½¤ÎƱÂÛ¸¤Ê£¿ôƬ¤Î¸¡ºº¤Ç¤ÏØí´µ¸¤¤Î·ìÞù¥×¥é¥¹¥ß¥Î¡¼¥²¥ó³èÀ¤ÏÀµ¾ï¤è¤êÄ㤫¤Ã¤¿¤¬¡¢Â¾¤Î¸¤¤Ç¤ÏÀµ¾ï¤Ê´ð½à´Ö³ÖÆâ¤À¤Ã¤¿ |
AR | ¥¹¥³¥Ã¥Á¡¢¥É¡¼¥Ù¥ë¥Þ¥ó |
398 |
Macular corneal dystrophy ²«ÈóÑË쥸¥¹¥È¥í¥Õ¥£ |
»ëÎϾ㳲¡¢¼ºÌÀ | ²«ÈÉ-¤ª¤¦¤Ï¤ó-¤ÏÌܤÎÌÖËì¤ÎÃæ¿´Éô¤Ç¡¢Á¡ºÙ¤Ê¹½Â¤¤ò¤·¤Æ¤¤¤ë¤¿¤á¼À´µ¤¬À¸¤¸¤ä¤¹¤¤ | AR | ¥é¥Ö |
411 |
Microphthalmia ¾®´ãµå¾É |
ÊÒÊý¤«Î¾Êý¤Î´ãµå¤¬¾®¤µ¤¤¾õÂÖ¡£¼å»ëÎϤ«¤éÁ´ÌդޤǤµ¤Þ¤¶¤Þ | Microphthalmia²èÁü¸¡º÷¤Ç°ìȯ¤Ç¾É¾õ¤¬°û¤ß¹þ¤á¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
425 |
Multifocal retinopathy 1 ¿ȯÀÌÖËì¾É¡¡1¡¡ |
ÌÖËì¾É»²¾È |
Gene: BEST1¡¡ À¸¸å2¥ö·îº¢¤«¤éÌÖËì¿§ÁǾåÈé¶õ˦²½¡¢ÌÖËìÁÈ¿¥¤ÎÈîÂç¤Ê¤ÉÊ£¿ô¤ÎÎΰè¤ËÌÖËìÊÑÀ¤¬µ¯¤³¤ë¡¢ |
AR | A¥·¥§¥Ñ¡¢¥Ö¥ë¡¢¥Ô¥ì |
426 |
Multifocal retinopathy 2 ¿ȯÀÌÖËì¾É¡¡2¡¡ |
ÌÖËì¾É»²¾È |
Gene: BEST1¡¡ ÌÖËì¿§ÁǾåÈé¶õ˦²½¡¢ÌÖËìÁÈ¿¥¤ÎÈîÂç¤Ê¤ÉÊ£¿ô¤ÎÎΰè¤ËÌÖËìÊÑÀ¤¬µ¯¤³¤ë¡¢ |
AR | ¥³¥È¥ó¥Ç¥Ä¥ì¥¢¥ë(¾®·¿¤ÎÇò¸¤) |
427 |
Multifocal retinopathy 3 ¿ȯÀÌÖËì¾É¡¡3¡¡ |
ÌÖËì¾É»²¾È |
Gene: BEST1¡¡ ÌÖËì¿§ÁǾåÈé¶õ˦²½¡¢ÌÖËìÁÈ¿¥¤ÎÈîÂç¤Ê¤ÉÊ£¿ô¤ÎÎΰè¤ËÌÖËìÊÑÀ¤¬µ¯¤³¤ë¡¢ |
AR | ¥é¥Ý¥Ë¥¢¥ó¥Ï¡¼¥À¡¼(5G) |
428 |
Multiple anomalies *Ê£¿ô¤Î°Û¾ï |
¸ý³¸Îö¡¢Â¿»Ø¾É¡¢¹ç»Ø¾É¡¢æú¹ü·ç¤¹ü¤Îû½Ì¡¢ÀÔÄǦ׿¤Ê¤É¤¬°ìÅ٤˸½¤ì¤ë | À÷¿§Âΰ۾ï¤Ë¤è¤ë´ñ·Á¾É¸õ·²¤Î¤è¤¦¤Ê¾õÂÖ¤ò»Ø¤¹¤è¤¦¤À¡£¸ý³¸Îö¤Î¤Ê¤¤¥á¥¹¤Ï¾É¾õ¤¬·Ú¤á¤Î¾ì¹ç¤¢¤ê¡¢¥À¥Ö¥ë¥Þ¡¼¥ë¤Î¥ª¡¼¥¹¥È¥é¥ê¥¢¥ó¥·¥§¥Ñ¡¼¥É¤Îµ½Ò¤¢¤ê(MM¤ÈƱ»þ¤Ëµ¯¤³¤ë¡©) | X-linkedÃ×»à | A¥·¥§¥Ñ |
430 |
Multiple ocular defects *¿ȯÀ»ëÉô·ç» |
ÌÖËì¤Î°Û·ÁÀ®¤ÈÇòÆâ¾ã¤È¿å¾½ÂÎÊÑÀ¤¬½Å¤Ê¤ë¤è¤¦¤Ê¾õÂÖ | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ½©Åĸ¤ |
458 |
Myopia ¶á»ë |
* | ºÙŤ¤¾Ë»ÒÂΤˤè¤ë¶þÀÞ°Û¾ï?? | ¾ïÀ÷¿§ÂÎÀ¡¢Â¿°ø»Ò | ¥é¥Ö |
462 |
Nasal parakeratosis *É¡¤ÎÉÔÁ´³Ñ²½ |
¼ç¤ËÉ¡Ì̼þÊÕ¤ÎÈéÉæ¤Î³Ñ¼Á²½¤È¿§ÁÇæ¼º¡¢½Ð·ì¤¹¤ë¤³¤È¤â¤¢¤ëÄÙáç²½ | °äÅÁÀ¤ÎÉ¡¤ÎÈéÉæ±ê¡£ÉÔÁ´³Ñ²½¤È¤ÏÈéÉæ¤Î¿·ÄÄÂå¼Õ¤¬Àµ¾ï¤Ê¾ì¹ç¤è¤ê¤âÁá¤Þ¤ë¤³¤È¤Ç¡¢À¸¸å6¤«·î¡Á1ºÐ¤¯¤é¤¤¤Ëȯ¾É¤¬Â¿¤¤¡£¥Ó¥¿¥ß¥óE¤Î¶É½êÅêÍ¿¤ÈÇò¿§¥ï¥»¥ê¥ó¤ä¥×¥í¥Ô¥ì¥ó¥°¥ê¥³¡¼¥ë¤Î¶É½êŬÍѤ¬¸ú²ÌŪ¤Ê¤³¤È¤â¤¢¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥é¥Ö |
503 |
Night blindness, congenital stationary ÀèÅ·ÀÄê¾ïÌëÌÕ¾É |
°Å¤¤¤È¤³¤í¤ÇÌܤ¬¤è¤¯¸«¤¨¤Ê¤¤ | ÌÖËì¤ÏÀµ¾ï¤À¤¬¿íÂκÙ˦¡Ê¥³¡¼¥ó¡Ë¤¬±þÅú¤·¤Ê¤¤¾õÂÖ¡£Äê¾ï¤È¤ÏÈó¿Ê¹ÔÀ¡¢¾É¾õ¤¬À¸¤Þ¤ì¤Ä¤ÊѤï¤é¤Ê¤¤ | AR | ¥Ó¡¼¥°¥ë |
504 |
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¿¶»ÒÍÍ´ã¿¶¡Ê°ìÄê®Å٤ǿ¶»Ò¤Î¤è¤¦¤Ê±ýÉü±¿Æ°¤ò¤¹¤ë¡Ë¡¢
¾×ưÀ´ã¿¶¡Ê°ìÊý¤Ø´Ë¤ä¤«¤Ëư¤¡¢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¡£ |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | B¥·¥§¥Ñ |
507 |
Ocular melanosis ´ã¥á¥é¥Î¡¼¥·¥¹ |
ξÌܤοʹÔÀ¿§ÁÇÄÀÃå | ÎÐÆâ¾ã¡¢¼ºÌÀ¤Ø¤È¤Ä¤Ê¤¬¤ë¤³¤È¤¬Â¿¤¤ | AD | ¥±¥¢¥ó¥Æ¥ê¥¢ |
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»Æñİ¡¢¸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¬ÉôÆÍ½Ð¡¢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 |
514 |
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¥£ |
515 |
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¥£ |
531 |
Otitis externa, susceptibility to *³°¼ª±ê¤Ë¤«¤«¤ê¤ä¤¹¤¤ |
³°¼ª¤Î±ê¾É | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | G¥·¥§¥Ñ¤Ê¤É¿¼ï |
532 |
Otitis media, susceptibility to *Ãæ¼ª±ê¤Ë¤«¤«¤ê¤ä¤¹¤¤ |
Ãæ¼ª¤Î±ê¾É | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | Ǥʤɤâ |
533 |
Otocephaly ¼ªÆ¬¾É |
²¼³Ü¤Î·ç»¤Èξ¼ª²ð¤Î´éÌ̲¼¤Ç¤Î·ë¹ç | ¤Û¤È¤ó¤ÉÀ¸Â¸ÉÔǽ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ó¡¼¥°¥ë¡¢¥í¥Ã¥È |
543 |
Pectinate ligament dysplasia ¶û¾õð×ÂÓ·ÁÀ®ÉÔÁ´ |
ÎÐÆâ¾ã | * | unknown | W¥¹¥× |
550 |
persistent hyaloid remnants *¾Ë»ÒÂÎÆ°Ì®°ä»Ä |
¤Þ¤Ä¤²°Û¾ï¤È¼å»ë¤Ê¤É¡£ÇòÆâ¾ã¤Ë°Ü¹Ô¡©ÀèÅ·À´ã¼À´µ |
Ë̳¤Æ»ËÌÅͻԤ«¤±¤Ï¤¿Æ°ÊªÉ±¡¤µ¤Þ¡Ø¾Ë»ÒÂÎÆ°Ì®°ä»Ä¤¬¤ß¤é¤ì¤¿¸¤¤ÎÇòÆâ¾ã¡Ùhttp://kakehata113.seesaa.net/article/63333867.html
Remnant¤Ï¥ê¥Ý¥¿¥ó¥Ñ¥¯¼Á¤Î²Ã¿åʬ²ò»ºÊª¥ì¥à¥Ê¥ó¥È¡¢»Ä°äʪ |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | A¥·¥§¥Ñ |
555 |
Photoreceptor dysplasia ¸÷¼õÍÆÂηÁÀ®ÉÔÁ´ |
ÌÖËì¤Î·ì´É¤¬Çö¤¯¤Ê¤ë¤³¤È¤Ë¤è¤ë»ëÎϾ㳲¡¢ÌëÌÕ |
Genes:PDC ÊÌ̾¿Ê¹ÔÀÛ¸ÂοíÂÎÊÑÀ¡¢ÌÖËì¿§ÁÇÊÑÀ¾É¡£¸÷¼õÍÆÂΤȤϤª¤â¤Ë»ëºÙ˦¤ò»Ø¤¹¡£Ä̾ïÀ¸¸å12½µ°ÊÁ°¤Ëȯ¾É¤¹¤ë¡£PRA»²¾È |
AR | M¥·¥å¥Ê |
584 |
Progressive retinal atrophy ¿Ê¹ÔÀÌÖËì°à½Ì¾É |
½é´ü¤ÏÌëÌÕ¡¢¼ºÌÀ |
Gene: CNGB1 ¿Ê¹ÔÀÌÖËìÊÑÀ¤È¤Ê¤ëɵ¤¤ÎÁí¾Î¡£°ìÈÌŪ¤ËÀ¸¸å5¥ö·îº¢¤«¤éǧ¤á¤é¤ì¡¢ÌëÌÕ¡¦¤Ä¤Þ¤Å¤¡¦¤Ö¤Ä¤«¤ê¡¦³¬ÃʤäÃʺ¹¤Ç¤¹¤¯¤à¡¢¤Ê¤É¤ò·Ð¤Æ»ëÎϤ¬Äã²¼¤·¼ºÌÀ¤¹¤ë¡£Äˤߤòȼ¤¦¤³¤È¤â¤¢¤ë¤è¤¦¤À¡£ÇòÆâ¾ã¤äÎÐÆâ¾ã¤Ê¤É¤Û¤«¤ÎÌܤÎɵ¤¤òʻȯ¤¹¤ë¤³¤È¤â¤¢¤ë¡£ |
¾ïÀ÷¿§ÂΰäÅÁ | ¿ |
585 |
Progressive retinal atrophy, Basenji ¥Ð¥»¥ó¥¸¡¼¤Î¿Ê¹ÔÀÌÖËì°à½Ì¾É |
* |
Gene: SAG * |
AR | ¥Ð¥»¥ó¥¸¡¼ |
586 |
Progressive retinal atrophy, due to CNGA1 mutations ¿Ê¹ÔÀÌÖËì°à½Ì¾É¡¡CNGA1ÊѰ۷¿ |
* |
Gene:FAM161A * |
AR | ¥·¥§¥ë¥Æ¥£¡¼ |
587 |
Progressive retinal atrophy, Swedish vallhund ¥¹¥¦¥§¥Ç¥£¥Ã¥·¥å¥ô¥¡¥ë¥Õ¥ó¥È¤Î¿Ê¹ÔÀÌÖËì°à½Ì¾É |
* | ÌÓ¿§¤¬¸ÕËã¤Î¤ß¤Î¥³¡¼¥®¡¼¤Î¤è¤¦¤Ê¸¤ | AR | ¥¹¥¦¥§¥Ç¥£¥Ã¥·¥å¡¦¥ô¥¡¥ë¥Õ¥ó¥È |
588 |
Progressive retinal atrophy type 3, Tibetan Spaniel and Tibetan Terrier ¥Á¥Ù¥¿¥ó¥¹¥Ñ¥Ë¥¨¥ë¤È¥Á¥Ú¥¿¥ó¥Æ¥ê¥¢¤Î¿Ê¹ÔÀÌÖËì°à½Ì¾É |
½é´ü¤ÏÌëÌÕ¡¢¼ºÌÀ |
Gene: CNGB1 ¿Ê¹ÔÀÌÖËìÊÑÀ 2014/04Äɲá¡2014ǯ¤ÎDowns and Mellersch¤ÎÄ´ºº¤Ë¤è¤ë¤È(¿Æ¤«¤é»Ò¤Ø)15¡ó¤¬ÆÍÁ³ÊѰۡ¢85¡ó¤¬¥Û¥âÀܹçÌîÀ¸·¿¤È¤¤¤¦°äÅÁŪ¤ËÉԶѰì¤È¤¤¤¦·ë²Ì¤¬½Ð¤Æ¤¤¤ë¤è¤¦¤À |
AR | ¥Á¥Ù¥¿¥ó¥¹¥Ñ¥Ë¥¨¥ë¤È¥Á¥Ú¥¿¥ó¥Æ¥ê¥¢ |
589 |
Progressive retinal atrophy, Whippet ¥¦¥¤¥Ú¥Ã¥È¤Î¿Ê¹ÔÀÌÖËì°à½Ì¾É |
* | * | AR | ¥¦¥¤¥Ú¥Ã¥È |
590 |
Progressive retinal atrophy, X-linked, 1 ÀÀ÷¿§À¿Ê¹ÔÀÌÖËì°à½Ì¾É1·¿ |
»²¾È;¿Ê¹ÔÀÌÖËì°à½Ì¾É | * | X-Linked | * |
591 |
Progressive retinal atrophy, X-linked, 2 ÀÀ÷¿§À¿Ê¹ÔÀÌÖËì°à½Ì¾É2·¿ |
»²¾È;¿Ê¹ÔÀÌÖËì°à½Ì¾É | * | X-Linked | * |
592 |
Progressive retinal atrophy, X-linked, 3 ÀÀ÷¿§À¿Ê¹ÔÀÌÖËì°à½Ì¾É3·¿ |
»²¾È;¿Ê¹ÔÀÌÖËì°à½Ì¾É | * | X-Linked | * |
593 |
Progressive rod-cone degeneration ¿Ê¹ÔÀÛ¸ÂοíÂÎÊÑÀ¾É |
»ëÎϾ㳲 |
Gene: PRCD Û¸ÂΤ¬¿íÂΤËÀè¹Ô¤·¤Æ¾ã³²¤µ¤ì¤ë¤Î¤¬Û¸ÂοíÂÎÊÑÀ¾É(ÂåɽŪ¤Ê¤â¤Î¤ÏÌÖËì¿§ÁÇÊÑÀ¾É) |
AR | ¥´¥ë¡¢¥é¥Ö¡¢¥è¡¼¥¡¼¤Ê¤É¿¿ô |
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) | AR¤« | I¥»¥Ã¥¿¡¼ |
612 |
Retinal and skeletal dysplasia ÌÖËìµÚ¤Ó¹ü³Ê¤Î°Û·ÁÀ® |
* | * | unknown | * |
613 |
Retinal degeneration II ÌÖËìÊÑÀ¾É¡¡¶·¿ |
* |
Genes:RDS,GNB3 * |
unknown | * |
614 |
Retinal detachment ÌÖËìÇíÎ¥ |
* | ÌܤÎ(¾¤Î)ɵ¤¤ÈÎö¹¦¸¶ÀÌÖËìÇíÎ¥¤Î¸¦µæ | unknown | * |
615 |
Retinal dysplasia ÌÖËì·ÁÀ®ÉÔÁ´ |
»ëÎϾ㳲¡¢¼ºÌÀ | ÌÖËì¤Î·ÁÀ®°Û¾ï¤Ï¡¢»ë³Ð¤Î¸º¾¯¤Þ¤¿¤Ï´°Á´¤ÊÁÓ¼º¤ò¤â¤¿¤é¤¹¡ÊǾ¤ËÁ÷¿®¤¹¤ë»ë³Ð¾ðÊó¤ò¼ý½¸)(´ã¤Î΢ÌÌ¡ËÌÖËì¤ÎÉÔŬÀڤʷÁÀ® | unknown | ¥³¥ê¡¼¡¢¥¹¥Ô¥Ã¥Ä¡¢A¥³¥Ã¥«¡¼¡¢E¥¹¥× |
616 |
Retinal dysplasia and persistent primary vitreous *¸¶È¯À¾Ë»ÒÂβá·ÁÀ®°ä»Ä |
»ëÎϾ㳲 | ¸¶È¯À¾Ë»ÒÂβá·ÁÀ®°ä»Äpersistent hyperplastic primary vitreous ¤ÏÂÛÀ¸´ü¤Ë¼«Á³Âà½Ì¤¹¤ë´ãÁÈ¿¥¤¬»Ä¸¤¹¤ë»ë³Ð¾ã³² | AR | M¥·¥å¥Ê |
617 |
Retinal dystrophy ÌÖË쥸¥¹¥È¥í¥Õ¥£ |
ÌëÌÕ¡¢»ëÎÏÄã²¼ | ¸¤¤¬Â¾¤Î¸¤¤Ë¤¯¤é¤Ù¤Æ¶Ëü¤Ë¤Þ¤Ö¤·¤¬¤ë¾ì¹ç¤Ï¡¢¤³¤Îɵ¤°Ê³°¤Ç¤âÌÖËì¤Î°Û¾ï¤ò¿´ÇÛ¤¹¤ë¤Ù¤¤Ç¤¢¤ë¡£¸µ¤Ë¤Ê¤ë°äÅÁŪ¥È¥é¥Ö¥ë¤¬ÍÍ¡¹¤Ê°Ù¿§¡¹¤Ê°äÅÁ·Á¼°¤ò¤È¤ë¤â¤Î¤¬Èó¾ï¤Ë¿¤¤¡£ÌÖË쥸¥¹¥È¥í¥Õ¥£¤ÏAD¤äXR¤â¸«¤é¤ì¤Æ¤¤¤ë¤è¤¦¤À | * | ¥°¥ì¡¼¥È¥Ç¥ó |
618 |
Retinoschisis ÌÖËìʬΥ¾É |
* | * | unknown | * |
619 |
Rod dysplasia Û¸ÂÎÊÑÀ |
* |
Gene: PRCD Û¸ÂÎ-¿íÂΤÏÌÖËì¤Ë¤¢¤ë»ëºÙ˦¤Î¼ïÎà¤ÇÛ¸ÂÎRod¤Ï°Å¤¤½ê¤ÇƯ¤È¿ÂФ˿íÂÎCone¤ÏÌÀ¤ë¤¤½ê¤ÇƯ¤¯¤Î¤È¿§¤ò¼±Ê̤¹¤ëµ¡Ç½¤ò»ý¤Ä |
AR | * |
620 |
Rod-cone dysplasia Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´ |
* |
Genes:GNGT2 * |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
621 |
Rod-cone dysplasia 1 Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´1·¿ |
* |
Gene: PDE6B * |
AR | * |
622 |
Rod-cone dysplasia 1a Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´1a·¿ |
* |
Gene: PDE6B * |
AR | * |
623 |
Rod-cone dysplasia 2 Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´2·¿ |
* |
Gene: RD3 * |
AR | * |
624 |
Rod-cone dysplasia 3 Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´3·¿ |
* |
Gene: PDE6A * |
AR | * |
625 |
Rod-cone dysplasia 4 Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´4·¿ |
* |
Gene: PDE6A * |
¾ïÀ÷¿§ÂÎÀ | * |
669 |
Tapetal degeneration ¥¿¥Ú¥¿¥àÊÑÀ¾É |
ÌëÌÕ |
¥¿¥Ú¥¿¥à¤È¤ÏÌÖËì¤Î²¼¤Ë¤¢¤ë¸÷¤òÈ¿¼Í¤¹¤ëÁÈ¿¥¤Ç¡¢¤ï¤º¤«¤Ê¸÷¤·¤«Ìµ¤¤°Å¤¤½ê¤Ç¤â¤Î¤ò¸«¤ë¤Î¤ËÌòΩ¤Ä´ï´±¡£ ÊÑÀ¾É¤Ç¤ÏÀ¸¸å3½µÌܤޤǤÏÉáÄ̤À¤¬¡¢¤½¤Î¸å1¡Á2ǯ¤Ç¥¿¥Ú¥¿¥à¤ÎÁ´¤Æ¤¬ÁÓ¼º¤µ¤ì¤ë¡£ÌÖËì¤ÏÀµ¾ï¡£Æ·¹¦Ëì°ä»Ä¤Ë¹çÊ»¤¹¤ë¤³¤È¤â¤¢¤ë¡£ |
unknown | ¥Ó¡¼¥°¥ë¡¢¥Ü¥ë¥¾¥¤ |