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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
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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¡£
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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
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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
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¸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)
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unknown *
113 Ciliary dyskinesia, primary
¸¶È¯À­Á¡ÌÓ±¿Æ°¾ã³²¡¢Á¡ÌÓÉÔÆ°¾É
ξ¦À­ËýÀ­Åª¤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礭¤¤¡£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
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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礭¤Ê·ç»¤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¿¼ÍÀ­Ð¶¿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
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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
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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
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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
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É¡½Ð·ì 2005ǯ¤Î¥Î¡¼¥¹¥«¥í¥é¥¤¥ÊÂç³Ø¤ÎÄ´ºº¤ÇÉ¡½Ð·ì¤Î3³ä¤Î¸¤¤¬¥Ð¥ë¥È¥Í¥é¾É(Ç­¤Ò¤Ã¤«¤­ÉÂ)´¶À÷¤Ë´ØÍ¿¤·¤Æ¤¤¤¿Êó¹ð¤¬¤¢¤ë unknown *
224 Eye colour
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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´¡¢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
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 Ç­¤Ê¤É¤â
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¥¤


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