¸¤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 |
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·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 |
ÈÖ¹æ | ¼À ´µ ̾ | ¼ç ¤Ê ¾É ¾õ | È÷¡¡¡¡¡¡¡¡¡¡¹Í | °äÅÁ·Á¼°/ñ°ì°ø»Ò | ¸¦µæ¤µ¤ì¤Æ¤¤¤ë¸¤¼ï |
---|---|---|---|---|---|
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 |
* | ¥¥¢¥ê´ñ·Á(Arnold-Chiari malformation)¤ÏǾ¤Î´ñ·Á¤Î°ì¼ï¡¢¸åƬ¹ü·ÁÀ®ÉÔÁ´¾É¸õ·²¡£¿åƬ¾É¤Î¹çÊ»¤¬Â¿¤¤ | unknown | ¥¥ã¥Ð¥ê¥¢ |
104 |
CHILD-like syndrome *µ¶CHILD¾É¸õ·² |
Çئ¤Î¥Ö¥é¥·¥å¥³¥é¥¤¥ó±è¤¤¤Ë¸ü¤¤Ã㿧¤ÎÎÚ¾õ¤ÎÈéÉæÉÂÊÑ¡¢ÉÂÊÑÉô¤Î¥Þ¥é¥»¥Á¥¢¤Ê¤É´¶À÷¾É¡¢¥ª¥¹»à»º | CHILD ¾É¸õ·²¤ÏCongenital hemidysplasia with ichthyosiform nevus and limb defects¡¡¤Î¤³¤È¡£µûÎÚáýÍ͹ÈÈé¾õ¤ÎÈéÉæÉÂÊѤÇȾ¿È¤Ëµ¯¤¤½¤ÎȾ¿È¦¤Î¾å²¼»è¤Îû½Ì¤Þ¤¿¤Ï·ç»¡¢Â¡´ï¤Î·ÁÀ®°Û¾ï¤«¤é¤Î¾ã³²¤¬¤¢¤ë¡£È¯¾É¥ª¥¹¤Ï½ÐÀ¸»þ¤Ë»àË´¡£Blaschko lines¤ÏÂÛÀ¸´ü¤ËºÙ˦¤Î¥¯¥í¡¼¥ó¤¬ÈéÉæ¤Ø¤Èʬ²½¤·¤ÆÂÎɽ¤òʤ¤¤¿Ô¤¯¤¹ºÝ¤Ë³ÈÄ¥¤¹¤ëÊý¸þ¤ÇÊ£¿ô¥Ñ¥¿¡¼¥ó¤¬¤¢¤ë¤é¤·¤¤¡Ê¥â¥¶¥¤¥¯¥Ñ¥¿¡¼¥ó¡Ë¡£°ã¤¦¤±¤É¥Ö¥ê¥ó¥É¥ëÌÏÍͤΤ褦¤Ê¥Ñ¥¿¡¼¥ó¡£Ê¢Â¦¡¦¤½¤±¤¤Éô¤ÏÀµ¾ï¤é¤·¤¤ | X¥ê¥ó¥¯È¾Í¥À | ¥é¥Ö |
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) | unknown | * |
106 |
Chondrodysplasia Æð¹ü·ÁÀ®ÉÔÁ´ |
Âη¿¤Î¥¢¥ó¥Ð¥é¥ó¥¹¡¢À®Ä¹Ãٱ䡢¾®¤Ö¤ê(¾®¿Í¾É)¡¢¹ü´ØÀá¤ÎÊÑ·Á¡¢°×¹üÀÞÀ |
Genes: FGF4 Æð¹ü¤ò´Þ¤à¹üüÈĤ¬¿·¤·¤¤¹üºÙ˦¤ò¤Ä¤¯¤é¤º¡¢¹ü¤ÎÀ®Ä¹¤¬Á˳²¤µ¤ì¤ë¡£Â¿¤¯¤Î¾ì¹ç¤½¤Î¸¤¼ï¤ÎÊ¿¶Ñ¤ÎȾʬÄøÅ٤Υµ¥¤¥º¤Ë¤·¤«À®Ä¹¤Ç¤¤ºÃ»Ì¿¡¢¾É¾õ¤¬½ÅÅ٤Ǥ¢¤ì¤ÐÁá´ü»àË´ |
AD,AR | ¥é¥Ö¡¢¥Ô¥ì¡¢¥×¡¼¥É¥ë |
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 |
110 |
Chronic myelogenous leukemia ËýÀ¹ü¿ñÀÇò·ìÉ |
°×ÈèÏ«´¶¡¢ÈùÇ®¡¢°×´¶À÷¾É¡¢ÉÏ·ì¡¢Çò·ìµå¡¦·ì¾®ÈÄ¿ô¤ÎÁý²Ã | ·ì±Õ¤Î¤¬¤ó | unknown | ¥´¥ë |
111 |
Chronic valvular disease ËýÀÊÛËì¼À´µ |
¤È¤¯¤ËÌë´Ö¤Î³±¤äÍî¤ÁÃ夤Τʤ¤Àº¿ÀÉÔ°ÂÄꡢǴËì¤ÎÀ֤ߤ¬Çö¤Þ¤ë¡¢´ÎÈîÂç¤Ë¤è¤ëÊ¢ÉôËÄËþ¡¢Ë¢¾õ¤ÎÉ¡·ì¡¢¼º¿À¡¢ºÇ½ªÅª¤Ë¿´ÉÔÁ´ |
Genes:THRB,THR,THRA ά¾ÎCVD¡£¸¶°ø°äÅÁ»Ò¤¬È½ÌÀ¤·¤Æ¤¤¤ë¤â¤Î¤â¤¢¤ê¸¤¤Î¿´Â¡É¤ǤϤâ¤Ã¤È¤â°ìÈÌŪ¡£ÁÎ˹ÊÛµÕή¾É¤ò°ú¤µ¯¤³¤¹¡£Éú¤»¤ë¤È¸ÆµÛ¤¬¶ì¤·¤¤¤¿¤áΩ¤Ã¤¿¤Þ¤Þ¤Þ¤¿¤Ï¥ª¥¹¥ï¥ê¤Î¤Þ¤Þ¤È¤¤¤¦¾É¾õ¤â¤¢¤ë |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥¥ã¥Ð¥ê¥¢ |
112 |
Chylothorax Æýäö¶»(¤Ë¤å¤¦¤Ó¤¤ç¤¦) |
¥ß¥ë¥¯¾õ¤Î±ÕÂΤ¬¶»Ëì¹ÐÆâ¤Ë¤¿¤Þ¤ëɵ¤ |
¶»Éô¤Î¼çÍפʥê¥ó¥Ñ´É(¶»´É)¤Î»½ý¤ä¼ðáç(¤·¤å¤è¤¦)¤Ë¤è¤ë¥ê¥ó¥Ñ´É¤ÎÊĺɤ¬¸¶°ø¡¢¼£ÎŤ϶»´É·ë姤䥷¥ã¥ó¥È½Ñ¤Ê¤É³°²Ê¼ê½Ñ¡£¼ðáç¤ä¿¿¶Ý´¶À÷¾É¤ä¥Õ¥£¥é¥ê¥¢´¶À÷¤¬¸¶°ø¤È¤Ê¤ë¤³¤È¤â¤¢¤ë¤¬¸¤¤Ç¤Ï¿¤¯¤¬ÆÍȯÀ¤Î¤è¤¦¤À ¢¨´ÉÍý¿Í¤Ï¸Ä¿ÍŪ¤ËÆýäö¶»¤òȯ¾É¤·¤¿¥ª¥ª¥«¥ß¸¤¡Ê¥Ï¥¤¥Ö¥ê¥Ã¥É¥¦¥ë¥Õ¥É¥Ã¥°¡¢¸¤¤È¥ª¥ª¥«¥ß¤Î»Ò¡¦¤Þ¤¿¤Ï¤µ¤é¤Ë¤½¤Î»Ò¤Ê¤É¡Ë¤òÃΤäƤ¤¤Þ¤¹¡£¤â¤Á¤í¤óÆüËÜ»º¡£¤À¤«¤é¡Ö¤è¤¯¸¦µæ¤µ¤ì¤Æ¤¤¤ë¸¤¼ï¡×¤ÎÆþÎϤ¬»þ¡¹¤à¤Ê¤·¤¯¤Ê¤ê¤Þ¤¹¢¨ |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | Ç |
113 |
Ciliary dyskinesia, primary ¸¶È¯ÀÁ¡ÌÓ±¿Æ°¾ã³²¡¢Á¡ÌÓÉÔÆ°¾É |
ξ¦ÀËýÀŪ¤ÊÉ¡½Á¡¢¼¾¤Ã¤¿³±¡¢ÇÙ±ê |
Á¡ÌÓ¥¸¥¹¥¥Í¥¸¥¢¡£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¤ÇÇ¿É¡½Á¤¬¸«¤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(Æ⡤ΰÌÃ֤˰۾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 |
Cleft lip ¸ý¿°Îö |
¾å¿°¤Ë½Ä¤ËÀÚ¤ìÌܤ¬Æþ¤ê¡¢Î¥¤ì¤Æ¤¤¤ë¾õÂÖ¡£¤ß¤Ä¤¯¤Á¡£É¡¤¬¤Þ¤Ã¤×¤¿¤Ä¡¢»õ·Ô¤Þ¤Ç³ä¤ì¤Æ¤¤¤ë¡¢¤³¤È¤â¤¢¤ë¡£ÉÔÀµ»õÎó | ¾¤ÎÉ°ø¤¬¤¢¤ë¥±¡¼¥¹¤Î¸ý¿°Îö¤Ï¡¢¤·¤Ð¤·¤ÐÆ⡤ʤÉÊ̤ÎÉô°Ì¤Ë¤â´ñ·Á¤¬¤¢¤ë¡£¸ý³¸Îö¤òȼ¤¦¤³¤È¤â¤¢¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ü¥¯¥µ¡¼ | |
114 |
Cleft lip and palate ¸ý¿°¸ý³¸Îö |
¸ý¿°¸ý³¸¤È¤â¤ËÎö¤±¤Æ¤¤¤ë¾õÂÖ | Á°¸å»²¾È | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
115 |
Cleft lip with or without cleft palate *¸ý³¸Îö¤Îͤë̵¤·¤Ë´Ø¤ï¤é¤Ê¤¤¸ý¿°Îö |
Á°¸å»²¾È | 2015ǯ¥Î¥Ð¥¹¥³¥·¥¢¥À¥Ã¥¯¥È¡¼¥ê¥ó¥°¥ì¥È¥ê¥Ð¡¼¤Î¤¢¤ë½¸ÃĤǤϡ¢27ÈÖÀ÷¿§ÂΤΰìÉôʬ¤ËÊÑ°Û¤¬¤¢¤ë¾ì¹ç¤Ë¡¢¸ý¿°Îö¡¦¸ý³¸Îö¡¦¹ç»Ø¾É¤òȯ¾É¤¹¤ë¥Ñ¥¿¡¼¥ó¤ò4¤Äȯ¸«¤·¤¿¡¢¤È¤¤¤¦¸¦µæ | AR | ¥Î¥Ð¥¹¥³¥·¥¢ |
116 |
Cleft palate ¸ý³¸Îö |
Æð¸ý³¸¡¦¹Å¸ý³¸¡Ê¾å³Ü¡Ë¤¬À¸¤Þ¤ì¤Ä¤Îö¤±¤Æ¤¤¤ë¾õÂÖ¡¢ÉÔÀµ»õÎó¤È¾å³Ü¤ÎÎôÀ®Ä¹ | ¿·À¸»ù¤ÎÉ¡¤«¤é¥ß¥ë¥¯¤¬¤³¤Ü¤ì¤Æ¤¤¤ëÍͻҤʤɤǵ¤ÉÕ¤¯¡£Â¾¤ÎÉ°ø¤¬¤¢¤ë¥±¡¼¥¹¤Î¸ý³¸Îö¤Ï¤·¤Ð¤·¤ÐÆ⡤ʤÉÊ̤ÎÉô°Ì¤Ë¤â°Û¾ï¤¬¤¢¤ë¡£Æý»ù´ü¤Ë¤ÏÆý¤Î°û¤ß¤¬°¤¯¸íÓëÀÇÙ±ê(ÊÌ̾Óë²¼ÀÇÙ±ê¤Þ¤¿¤ÏµÛ°úÀÇÙ±ê)¤òµ¯¤³¤·»àË´¤â¿¤¯ÉáÄ̳ܤÎÎϤâ¼å¤¤¡£AD¿À·Ð±¿Æ°ÊÑÀ¤Î¥Ö¥ê¥¿¥Ë¡¼¥¹¥Ñ¥Ë¥¨¥ë¤Î²È·Ï¤Ç¤ÏAR¤ÎÎ㤬³Îǧ¤µ¤ì¤¿ÌÏÍÍ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ü¥¯¥µ¡¼¡¢¥Ö¥ê¥¿¥Ë¡¼ |
117 |
Cleft palate 1 ¸ý³¸Îö £±·¿ |
Æð¸ý³¸¡¦¹Å¸ý³¸¡Ê¾å³Ü¡Ë¤¬À¸¤Þ¤ì¤Ä¤Îö¤±¤Æ¤¤¤ë¾õÂÖ¡¢²¼³Ü¤¬Ã»¤¤¡¢Àå¤Ï¸åÊý¤ËÇÛÃÖ |
Gene: DLX6 ¾¤Î¿¤¯¤Î¼À´µ¤Ë¤â¶¦Ä̤¹¤ë¤¬¡¢¥Ò¥È¤Ç¤â°ìÈÌŪ¤ÊÀèÅ·°Û¾ï¤È¤·¤Æ¤Î¸ý³¸Îö¤Î¤è¤ê¿¼¤¤Íý²ò¤Î¤¿¤á¤Ë¡¢¸¤¤Ë¸½¤ì¤ë°äÅÁŪ·Á¼Á¤È¼À´µ¤Î¾ðÊó¤ò¹¤¯Àµ¤·¤¯¶¦Í¤¹¤ë¤³¤È¤¬Èó¾ï¤ËÂçÀڤǤ¢¤ë |
AR | ¥Î¥Ð¥¹¥³¥·¥¢ |
118 |
Coat colour, agouti ¥¢¥°¡¼¥Á°äÅÁ»ÒºÂ¤Î¿§ÁÇ°äÅÁ»Ò |
¥¢¥°¡¼¥ÁºÂ(A¥·¥ê¡¼¥º)¤Ï¥æ¡¼¥á¥é¥Ë¥ó¤È¥Õ¥§¥ª¥á¥é¥Ë¥ó¤ÎʬÉÛ¤ò·èÄꤹ¤ë°äÅÁ»ÒºÂ |
Genes: ASIP A¥·¥ê¡¼¥º¤ÎÎôÀ°ø»Ò¡¢ay-¥¢¥°¡¼¥Á¥¤¥¨¥í¡¼(¥ì¥Ð¡¼¤Ç¤Ê¤¤)Ã㿧¡¢aw-¥¢¥°¡¼¥Á¥ï¥¤¥ë¥É¡¢¥Ð¥ó¥Ç¥Ã¥É¥Ø¥¢(1ËܤÎÌÓ¤ËÂÓ¾õ¤Î¿§¤Îʬ¤«¤ìÌܤ¬¤¢¤ë¾õÂÖ)¡¢at-¥¿¥ó¥Ý¥¤¥ó¥È¡¢a-ÎôÀ¹õ |
AR | G¥·¥§¥Ñ¡¢¥Ï¥¤¥¤¥í¥ª¥ª¥«¥ß¡¢¥³¥è¡¼¥Æ |
119 |
Coat colour, albinism ¥¢¥ë¥Ó¥Î |
´ã¿Ì¡¢»ëÎÏ¡¦Ä°ÎÏÄã²¼¡¢¥Á¥í¥·¥Ê¡¼¥¼¤Î´°Á´¤ÊÉÔ | ÇòÈé¾É¡¢¿§ÁÇ·ç˳(´°Á´·ç˳¤«¤éÉôʬ·ç˳¤Þ¤Ç) | ¤Õ¤Ä¤¦AR | ¿ |
120 |
Coat colour, albinism, oculocutaneous type IV ´ãÈéÉæIV·¿¥¢¥ë¥Ó¥Î |
¥¢¥ë¥Ó¥Î | ÊÌ̾¥Û¥ï¥¤¥È¥É¡¼¥Ù¥ë¥Þ¥ó¡£SLC45A2¤ÎÉôʬŪ°äÅÁ»Ò·ç¼º¡Ê¤Þ¤¿¤Ï¥ß¥¹¥»¥ó¥¹ÊÑ°Û¡Ë | AR | ¥É¡¼¥Ù¥ë¥Þ¥ó¡ã¥é¥µ¡¢¥Ú¥¡¢¥Ý¥á |
121 |
Coat colour, brown ¥ì¥Ð¡¼¿§¡¢¥Á¥ç¥³¥ì¡¼¥È¿§ |
¹õ¤¤¿§ÁǤ¬¥ì¥Ð¡¼(¥Á¥ç¥³¥ì¡¼¥È)¿§¤Ë¤Ê¤ë¡£¿§Áǥݥ¤¥ó¥È¤â´Þ¤à |
Genes:TYRP1 B¥·¥ê¡¼¥º¤ÎÎôÀb°ø»Ò¡¢¥æ¡¼¥á¥é¥Ë¥ó¤ËºîÍѤ¹¤ë¡£Í¥ÀB¤Ï¹õ |
AR | ¿ |
122 |
Coat colour, cream dilution ÌÓ¿§¤Î´õ¼á¥¯¥ê¡¼¥à |
e/e¥æ¡¼¥á¥é¥Ë¥ó¤ò¥Õ¥§¥ª¥á¥é¥Ë¥ó¤ËÊѹ¹ | ¥¨¥¯¥¹¥Æ¥ó¥·¥ç¥ó°äÅÁ»ÒºÂ¡¢E¥·¥ê¡¼¥º¤ÎÎôÀe¤ò»Ø¤·¤Æ¤¤¤ë¤è¤¦¤À | e¤Ê¤éAR¤À¤¬ÉÔ´°Á´Í¥À | ¥´¥ë¡¢¥é¥Ö¡¢¥Ó¥º¥é¡¢I¥»¥Ã¥¿¡¼¤¹¤Ù¤Æe/e |
123 |
Coat colour, dominant black Í¥À¤Î¹õ¤¤ÌÓ¿§ |
¤â¤Ã¤È¤âÇ»¤¤¹õ¤¤¿§ÁÇ |
Gene: CBD103 ¥É¥ß¥Ê¥ó¥Ö¥é¥Ã¥¯ºÂ¡¢K¥·¥ê¡¼¥º¤ÎºÇÍ¥À¡£Í¥ÀK¤¬¹õ¡¢ÎôÀkbr¤¬¥Ö¥ê¥ó¥É¥ë¡¢ÎôÀky¤ÏÍ¥À¹õ¤¬È¯Æ°¤»¤ºA¤äE¥·¥ê¡¼¥º¤Î·èÄê¤Ë¤è¤ë(¤¹¤Ù¤Æ¤Î¥Ö¥é¥Ã¥¯¥¢¥ó¥É¥¿¥ó¤Ïky/ky) |
AD | ¿ |
124 |
Coat colour, dominant white Í¥À¤ÎÇò¤¤ÌÓ¿§ |
* | ÈþɤΤ³¤È¤«?? | AD | * |
125 |
Coat colour, extension ÌÓ¿§¤Î³ÈÄ¥°äÅÁ»Ò |
E¥·¥ê¡¼¥º |
Genes:MC1R ¥á¥é¥Î¥µ¥¤¥ÈÆâ¤Î¥Á¥í¥·¥Ê¡¼¥¼¤Î¥ì¥Ù¥ë¤òÀ©¸æ¤¹¤ë¥á¥é¥Ë¥óºÙ˦»É·ã¥Û¥ë¥â¥ó¼õÍÆÂÎ |
¾ïÀ÷¿§ÂÎÀ | Á´ |
126 |
Coat colour, grizzle ÌÓ¿§¤Î¥°¥ê¥º¥ë°äÅÁ»Ò |
¥µ¥ë¡¼¥¤È¥¢¥Õ¥¬¥ó¥Ï¥¦¥ó¥É¤Î¥É¥ß¥ÎÌÏÍÍ |
Genes:MC1R ´éÌ̤Υ¿¥ó¥Ý¥¤¥ó¥È¤Î¥¿¥ó¿§Éôʬ(ÌÀ¤ë¤¤Êý¤Î¿§)¤¬Èý¤«¤éÉ¡Àè¡¢¤Î¤É¤Þ¤Ç¤Ä¤Ê¤¬¤Ã¤¿ÌÓ¿§¤Î¾õÂÖ¡£´éḬ̀ʳ°¤Î¥¿¥ó¥Ý¥¤¥ó¥È¤Î¶³¦Éôʬ(Ê¢¤È²£Ê¢¤Î¶¡¢»Í»è¤Î¶¡¢Èø¤ÎÆ⦤«¤éÇئ¤Î¶¡¢¶»)¤âÌÀ¤ë¤¤¿§¤Î¿¯¿©¤¬Áý¤¨¤ë¡£A¥·¥ê¡¼¥º¤¬at/at¤ÇEG¤¬1¤Ä¤Î»þ¤ËºîÍÑ¡£¤¿¤À¤·K¥·¥ê¡¼¥º¤ÎKB¤ÈE¥·¥ê¡¼¥º¤ÎEM¤¬Ìµ¤¤¾ì¹ç¤Ë¸Â¤ë |
¾ïÀ÷¿§ÂÎÀ | ¥µ¥ë¡¼¥¤È¥¢¥Õ¥¬¥ó(¥É¥ß¥Î) |
127 |
Coat colour, harlequin ÌÓ¿§¤Î¥Ï¥ë¥¯¥¤¥ó°äÅÁ»Ò |
M¥·¥ê¡¼¥º¡¦¥Þ¡¼¥ë¤¬È¯¸½¤·¤¿Éôʬ¤Î¿§ÁǤòÈ´¤¯ |
Gene: PSMB7 Ä̾ï¤Î¥Ö¥ë¡¼¥Þ¡¼¥ë¤¢¤ë¤¤¤Ï¥·¥ë¥Ð¡¼¥À¥Ã¥×¥ë¤Î³¥¿§¤Ë¤Ê¤ë¥Þ¡¼¥ëȯ¸½Éôʬ¤¬¿¿¤ÃÇò¤Ë¤Ê¤ë¡£¥·¥ó¥°¥ë¥Þ¡¼¥ë¤«¥À¥Ö¥ë¥Þ¡¼¥ë¤Î»þ¤Î¤ßɽ¸½¤µ¤ì¡¢M¥·¥ê¡¼¥º¤¬mm¤Î¾ì¹ç¤Ïɽ¸½¤·¤Ê¤¤¡£¤¿¤À¤·¥À¥Ö¥ë¥Ï¥ë¥¯¥¤¥ó-HH¤ÏM¥·¥ê¡¼¥º¤Ë´Ø¤é¤ºÃ×»à(¤ª¤½¤é¤¯¼õÀºÄ¾¸å¤¯¤é¤¤¤Î¤´¤¯ÁᤤÃʳ¬¤ÇȯÀ¸Ää»ß) |
AD | ¥°¥ì¡¼¥È¥Ç¥ó |
128 |
Coat colour, melanistic mask ¥Ö¥é¥Ã¥¯¥Þ¥¹¥¯°äÅÁ»Ò |
Melanistic Mask¡¢´éÌ̤¬¹õ¤¤ |
Gene: MC1R ¥æ¡¼¥á¥é¥Ë¥ó¤Ëɽ¸½¤¹¤ë¤Î¤Ç¤Ê¤±¤ì¤ÐÈó¾ï¤Ë¤ï¤«¤ê¤Ë¤¯¤¤¡£bb¥ì¥Ð¡¼¤Î¸¤¤Ï´é¤Î¾¤ÎÉôʬ(³Û¤Ê¤É)¤è¤ê¿§Ä´¤¬¤ä¤äÇ»¤¤¤á¤Î¥ì¥Ð¡¼¿§¤Î¥Þ¥¹¥¯¡£¥Õ¥©¡¼¥ó¥«¥é¡¼¤Î¥Õ¥ì¥ó¥Á¥Ö¥ë¥É¥Ã¥°¤¬Æ±¤¸ÌÓ¿§¤Î¾¤Î¸¤¼ï¤Î¸ý¸µ(¼ç¤ËÉ¡¤ÎÉý¤Î¤Þ¤ÞÉ¡¤«¤é²¼¿°¤Þ¤Ç)¤è¤ê¹õ¤¤Éôʬ¤¬Â¿¤¤ÅÀ |
AD | ¿ |
129 |
Coat colour, merle ÌÓ¿§¤Î¥Þ¡¼¥ë°äÅÁ»Ò |
M¥·¥ê¡¼¥º |
* |
AD | ËÒÍÓ¸¤·Ï |
130 |
Coat colour, oculocutaneous albinism, OCA2-related OCA2´ØÏ¢·¿¡¡¥¢¥ë¥Ó¥Î |
¥¢¥ë¥Ó¥Î |
Gene: OCA2 ¥Ò¥È¤Î´ãÈéÉæÇòÈé¾ÉII·¿¤Ë¶á¤¤ |
AR | G¥¹¥Ô¥Ã¥Ä |
131 |
Coat colour, saddle tan vs black-and-tan ÌÓ¿§¤ÎÇعõvs¥Ö¥é¥¿¥ó |
at/atÁ°Ä󡢥꡼¥µ¥ë¥¤¥¨¥í¡¼+/+¤«+/dup |
Genes:RALY Çعõ(¥Ó¡¼¥°¥ë¤Ê¤É)¤è¤ê¤µ¤é¤Ë¥Ö¥é¥Ã¥¯¥¿¥ó¤ÏÎôÀ |
AR | ¥Ï¥¦¥ó¥É¡¢¥Æ¥ê¥¢ |
132 |
Coat colour, white spotting ÌÓ¿§¤ÎÇòÈðäÅÁ»Ò |
S¥·¥ê¡¼¥º |
Genes:MITF ¥¢¥¤¥ê¥Ã¥·¥å¥Þ¡¼¥¯¡Ê¥Þ¥ó¥È¥ë¡Ë¡¢¥Ñ¡¼¥Æ¥£¡¼¡¢¤Û¤ÜÇò |
AR | ¿ |
133 |
Coat colour, white spotting, due to KIT ÌÓ¿§¤ÎKIT¤Ë¤è¤ëÇòÈðäÅÁ»Ò |
* |
Genes:KIT ¥Ç¥Î¥ÜÊÑ°Û |
AD | G¥·¥§¥Ñ¡¢¥ï¥¤¥Þ |
134 |
Coat colours, generic ¿§ÁÇ°äÅÁ»Ò |
ÌÓ¿§¤ËÂåɽ¤µ¤ì¤ë¸¤¤Î¿§ÁÇ°äÅÁ»Ò | ¥á¥é¥Ë¥ó¤ÏÀµ¾ï¤Ê·ì´É¾ò¤Îȯã¤Èµ¡Ç½¤ËÉԲķç¤Ç¥á¥é¥Ë¥óºÙ˦¤ÎÊÑ°ÛÂΤϷì´É¾õÀþ¾õµ¡Ç½ÉÔÁ´¤Î¸¶°ø¤Ç¤Ï¤È¤¤¤¦¸¦µæ¤¬¼ç¤Ë¥À¥ë¥á¥·¥¢¥ó¤ÎÆñÄ°¤Ë¤Ä¤¤¤Æ¤µ¤ì¤Æ¤¤¤ë¡£Àþ¾õ¤È¤ÏËì¤ËµµÎö¤¬Æþ¤ê·ì´É¤Î¤è¤¦¤Ë¤Ê¤Ã¤Æ¤¤¤ë¾õÂÖ(strial dysfunction) | AD,AR | Á´ |
135 |
Coeliac sprue ¥»¥ê¥¢¥Ã¥¯É |
ÄˤߤΤ¢¤ëÊ¢ÉôËÄËþ¡¢ËýÀ²¼Î¡¡¢°½ÊØ(»éËÃÊØ)¡¢ÂνŤε޷ã¤Ê¸º¾¯¤äÁý²Ã¡¢ÉÏ·ì¡¢¶ÚÆù¤ÎáÛÚ»¡¢ÄˤߤȤ«¤æ¤ß¤òȼ¤¦¼¾¿¾ | ¥°¥ë¥Æ¥óÉÔÂÑÀ¼«¸ÊÌȱּÀ´µ¡£¾®Çþ¤ä¥é¥¤Çþ¤Ë´Þ¤Þ¤ì¤ë¥°¥ë¥Æ¥ó¤Ë¤è¤Ã¤Æ¾®Ä²¤¬¾ã³²¤µ¤ì±ÉÍÜʬ¤ÎµÛ¼ýÉÔÁ´¤¬À¸¤¸¤ë¡£´Êñ¤Ë¸À¤¨¤Ð½ÅÅ٤ξ®Çþ¥¢¥ì¥ë¥®¡¼ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
136 |
Collie eye anomaly ¥³¥ê¡¼´ã°Û¾ï |
»ëÎϼ岽¡¢ÄøÅ٤ˤè¤Ã¤Æ¤Ï¼ºÌÀ |
Gene: NHEJ1 ¥³¥ê¡¼¥¢¥¤¡£»ëÎϤ¬¼å¤Þ¤ë¤À¤±¤Î¤³¤È¤â¤¢¤ê¡¢ÉÂÊѤ˵¤¤¬¤Ä¤«¤Ê¤¤¥±¡¼¥¹¤â¿¡¹¤¢¤ë¤¿¤á°äÅÁɤȤ·¤Æ¹¤²¤ä¤¹¤¤¡£¥Ø¥Æ¥íÀܹç¤Ç¤âȯ¾ÉÎ㤢¤ê¡£5¡Á8½µÎð¤Ç¤Î¸¡ºº¤òÈË¿£¼Ô¤¬¼Â»Ü¤·ÈË¿£ÅñÂÁ¤¹¤ë¤³¤È¤¬Í½ËɤˤĤʤ¬¤ë |
AR | ËÒÍÓ¸¤ |
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¸¤¤ÏÌܤËÆþ¤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 |
138 |
Colorectal hamartomatous polyposis and ganglioneuromatosis *²á¸í¼ðÀÂçIJ¥Ý¥ê¥Ý¡¼¥·¥¹¤È¿À·ÐÀá¿À·Ð¼ð¡¡ |
ÂçIJ¤Ë¿¿ô¤Î¾Í褬¤ó²½¤¹¤ë²ÄǽÀ¤Î¹â¤¤¥Ý¥ê¡¼¥×¡¢ÂçIJ°Ê³°¤Î¾Ã²½´É¥È¥é¥Ö¥ë¡¢¼ãÎð´ü¤Ëȯ¾É |
Gene: PTEN Cowden syndrome¥³¡¼¥Ç¥ó¾É¸õ·²(´éÌ̤οȯÀµÖ¿¾¡¢»Í»èËöü¤Î³Ñ²½À¾®µÖ¿¾¡¢¸ý¹ÐÇ´Ëì¤ÎÆýƬ¼ð¤È¾Ã²½´É¤Î²á¸í¼ðÀ¥Ý¥ê¥Ý¡¼¥·¥¹¡£Á´¿È¤Î¡´ï¤Ë¹âΨ¤Ë°À¼ðáç¤ò¹çÊ»)¡¢ Peutz¡¾Jeghers¡Ç syndrome¥Ý¥¤¥Ä¡¾¥¸¥§¥¬¡¼¥¹¾É¸õ·²(ÈéÉæÇ´Ëì¤Î¿§ÁÇÄÀÃå¤È¾Ã²½´É¤Î²á¸í¼ðÀ¥Ý¥ê¥Ý¡¼¥·¥¹¡£¾Ã²½´É¤¬¤ó¡¢ÍñÁ㤬¤ó¡¢»ÒµÜ¤¬¤ó¤Ê¤É¿¡´ï¤Ë¤ï¤¿¤Ã¤Æ¤¬¤ó¤¬¹âΨ¤Ë¹çÊ»¡£¥Ý¥ê¡¼¥×¤Ï¾®Ä²¤Ë¿¤¤) |
¾ïÀ÷¿§ÂÎÀ | ¥°¥ì¡¼¥È¥Ç¥ó |
139 |
Comedo syndrome ÌÌ⮾ɸõ·² |
ÇØÃæ¤òÃæ¿´¤È¤·¤¿¥Ë¥¥ÓÍͤΥǥ¥â¥Î | ¥·¥å¥Ê¥¦¥¶¡¼ÌÌ⮾ɸõ·²¡£ÌÌ⮤ÏÊ£¿ô¤Ç¤¡¢Ãæ¿È¥±¥é¥Á¥ó¤äÈé»é¤ÇÉÑÈˤ˺ٶݤò´Þ¤ó¤Ç¹õ¤º¤ó¤Ç¤¤¤ë¡£Í¾Äø¹ÈϰϤǤʤ±¤ì¤ÐáڤߤÏ̵¤¤¤«¼å¤¤ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥·¥å¥Ê¥¦¥¶¡¼¡¢¥á¥¥·¥«¥ó¤Ø¥¢¥ì¥¹ |
140 |
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 |
141 |
Cone-rod dystrophy 1 Û¸ÂοíÂÎ¥¸¥¹¥È¥í¥Õ¥£¡¼1 |
ÌëÌÕ¡¢»ëÌºõ¡¢»ëÎÏÄã²¼¡¢¼ºÌÀ |
Gene: PDE6B ÌÖË쿧ÁÇÊÑÀ¾É¤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¡¢»ëÌºõ¡¢»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¡¢»ëÌºõ¡¢»ëÎÏÄã²¼¡¢¼ºÌÀ |
Genes: ADAM9 ÌÖË쿧ÁÇÊÑÀ¾É¤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¡¢»ëÌºõ¡¢»ëÎÏÄã²¼¡¢¼ºÌÀ |
Genes: RPGRIP1 ÌÖË쿧ÁÇÊÑÀ¾É¤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¡¢»ëÌºõ¡¢»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¤ÎÊÑ°Û¤¬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¥¢ |
147 |
Conotruncal heart malformations ±ß¿íÆ°Ì®´´·ÁÀ®°Û¾ï |
¿´¼¼Ãæ³Ö·ç»¤Ë¤è¤ë¥Á¥¢¥Î¡¼¥¼¡¢±¿Æ°ÉÔÂÑÀ¡¢¼ý½Ì´ü»¨²»¡¢±¦¼¼ÈîÂç¡¢Ç٤ηì´É¤Ë¸º¾¯½Û´Ä |
(¥Ò¥È¤Ç¤Ï22q11.2·ç¼º¾É¸õ·²)¿¤¯¤ÏÁá´ü»àË´¡£±ß¿íÆ°Ì®´´Îΰè¤Î·ç»¤Ï4Ãʳ¬¤ËʬÎव¤ì¤Æ¤ª¤ê¥°¥ì¡¼¥É1¤Ï¤Û¤È¤ó¤É̵¾É¾õ¡£¤½¤Î¾¤ÎÂç·ì´É¤Î¾ã³²¤ò»ý¤Ã¤Æ¤¤¤ë¤³¤È¤¬Â¿¤¤¡£
*±ß¿íÉôÆ°Ì®´´´ñ·Á¤È¤Ï¥Õ¥¡¥í¡¼»Íħ¾É¡¢ÁíÆ°Ì®´´¾É¡¢ÂçÆ°Ì®µÝÎ¥ÃÇ¤Ê¤É |
¿°ø»Ò(¥Ò¥È¤Ç¤Ïñ°ì°äÅÁ»Ò) | ¥×¡¼¥É¥ë¡¢¥Ó¡¼¥°¥ë¡¢¥¡¼¥¹¥Û¥ó¥É |
148 |
Cor triatriatum Dexter ±¦Ë¼À»°¿´Ë¼¿´ |
¿´Â¡É¤ξɾõ¡¢ÀÅÌ®´Ôή¤ÎÁ˳² | ¥¨¥×¥¹¥¿¥¤¥ó´ñ·Á¡£»°¿´Ë¼¿´¤Ïº¸Ë¼¤¬°Û¾ï¤Ê³ÖÊɤˤè¤Ã¤Æ2¤Ä¤Ëʬ³ä¤µ¤ì¤¿¾õÂ֤ǡ¢Êɤηç»Éôʬ¤¬Â礤±¤ì¤Ð¾É¾õ¤Ï·Ú¤¯¤Ê¤êȯ¸«¤¬ÃÙ¤ì¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ½©Åĸ¤¡¢E¥Ö¥ë¥É¥Ã¥°¡¢¥Ô¥ì |
149 |
Corneal dermoid ³ÑËìÎàÈé¾É |
Ä̾ï³ÑËì¤Î¤¢¤ëÉôʬ¤ËÈéÉ椬¤¢¤ê¡¢ÌÓÊñ¤Î¤è¤¦¤ÊÌýÁ£¤È´ÀÁ£¤ò»ý¤ÁÌÓ¤¬À¸¤¨¤¿¤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± | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥·¡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 | ¿ |
151 |
Coxofemoral dysplasia ¸Ô´ØÀá·ÁÀ®ÉÔÁ´ |
ìì¹Ô¡¢¥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 | ¿ |
153 |
Craniomandibular osteopathy Ƭ³¸²¼³Ü¹ü¾É¤È¤¦¤¬¤¤¤«¤¬¤¯¤³¤Ä¤·¤ç¤¦ |
²¼³Ü¤¬³ÈÂ礹¤ëºÝ¤Î·ã¤·¤¤Äˤߡ¢Òû¹ç¤Î°Û¾ï¡¢¸ý¤ò³«¤±¤¿¤¬¤é¤Ê¤¤¡¢Óë²¼º¤Æñ¡¢ìì¹Ô¤ä»Í»è¤Î¼ð¤ì¤äÄË¤ß |
Gene: SLC37A2 °äÅÁ·Á¼°¤Ï Autosomal Incompletely Dominant¡¢¾ïÀ÷¿§ÂÎÉÔ´°Á´Í¥À ÊÌ̾¡¦¤¢¤´¥ª¥¹¥Æ¥ª¥Ñ¥·¡¼¡¦¥é¥¤¥ª¥ó¤¢¤´¡¢¥¦¥¨¥¹¥Æ¥£É¡¦²¼³Ü¹üËì±ê¡£À¸¸å4¡Á10¥ö·î¤Çȯ¾É |
|
¥¦¥¨¥¹¥Æ¥£¡¢¥Ü¥¹¥Æ¥ê¡¢¥±¥¢¥ó¡¢¥É¡¼¥Ù¥ë¥Þ¥ó¡¢E¥»¥Ã¥¿¡¼¡¢¥é¥Ö¡¢¥¹¥³¥Ã¥Á¡¢¥Ô¥ì¡¢¥·¥§¥ë¥Æ¥£ |
154 |
Cranioschisis Ƭ³¸Îö¤È¤¦¤¬¤¤¤ì¤Ä |
Ƭ³¸¤ÎÎö¡¢ÀôÌ礬6¡ß3mm°Ê¾å¤¢¤ë | ÊÌ̾¡¦ÆóʬƬ³¸¡¢Ç¾¥Ø¥ë¥Ë¥¢¤Ç½ÅÅÙ¤ÏÀ¸Â¸ÉÔǽ¡£¿ñËìá¤ë¤¤¤ÏǾáî¤òȼ¤¦¤³¤È¤¬¤¢¤ë(Ǿ¤¬¤Ï¤ß½Ð¤Æ¤¤¤ë¤è¤¦¤Ê¾õÂÖ) | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥³¥Ã¥«¡¼ |
155 |
Cricopharyngeal dysfunction Îؾõ°öƬµ¡Ç½ÉÔÁ´ |
Óë²¼¾ã³² | ÊÌ̾(ά¾Î)CD¡£¾åÉô¿©Æ»³çÌó¶Ú¤Î¶¨Ä´ÉÔǽ¤Ë¤è¤ê¥Ä¥§¥ó¥«¡¼·Æ¼¼¤¬È¯À¸¡¢·Æ¼¼¤«¤é·«¤êÊÖ¤·Êª¼Á¤¬¸íÓ뤵¤ì·ë²Ì¤È¤·¤ÆËýÀÇÙ¼À´µ¤Ë»ê¤ë¤³¤È¤¬¤¢¤ë¡£ | AR | ¥´¡¼¥ë¥Ç¥ó |
156 |
Cryptorchidism Ääαâдݡ¢ÄäαÀºÁã |
À¸¸å2¥ö·î°ÊÁ°º¢¤Þ¤Ç(¿¾¯¤Ï¸¤¼ï¤äÂγʤˤè¤Ã¤ÆÊÑÆ°¤¢¤ê)¤ËÊÒ¦¤¢¤ë¤¤¤ÏÎâдݤ¬Àµ¾ï¤Ë¹ß²¼¤»¤ºÊ¢¹ÐÆâ¤ËÄäα¤·¤¿¾õÂÖ¡£¤µ¤Þ¤¶¤Þ¤Ê¼À´µ¤Î¹çÊ»¾É¤Î¾ì¹ç¤â¤¢¤ë¡£Ê¢¹ÐÆâ¤Ë¤¢¤ë´ü´Ö¤¬Ä¹¤¤¤Û¤É¤¬¤ó²½¤¹¤ë³ÎΨ¤¬¹â¤Þ¤ë ¢¨1ºÐ¤³¤í¤Þ¤Ç¤Ë¡È¹ß¤ê¤ë¥±¡¼¥¹¡É¤Ï°ÜÆ°Àor²á¾ê±¿Æ°Àâдݤǽ¼Ê¬°Û¾ï |
¤Û¤«¤Î¼À´µ¤Î¹çÊ»¡¢À¼Á(À³Ê)¤¬°ÂÄꤷ¤Ê¤¤¤³¤È¤â¸«¤é¤ì¤ë¢ª¼«¿®¤¬Ìµ¤¤¡¦²²É¡¦½¸ÃæÎÏÉÔÂ¤Ê¤É | ¿°ø»Ò¡¢Â¿Í×ÁÇ¡¢AR¤â | ¿ |
157 |
Curly coat ÌÓ¼Á¤Î°äÅÁ»Ò |
¥«¡¼¥ê¡¼¥³¡¼¥È |
Gene: KRT71 ľÌÓ¤ËÂФ·¤Æ¤Î½ÌÌÓ |
¾ïÀ÷¿§ÂÎÀ | ¿ |
158 |
Cushing disease ¥¯¥Ã¥·¥ó¥°É |
½é´ü¤Ï¿©Íߤä°û¿åÎ̤äÇ¢Î̤ÎÁý²Ã¡¢Ê¢ÉôËÄËþ¡¢º¸±¦ÂоݤÇáڤߤΤʤ¤Ã¦ÌÓ¡¢³°½ýÀפÎÈé²¼½Ð·ì¡¢¤Ë¤¤ÓÍͤΤǤ¤â¤Î¡¢ÈéÉæ¤Î¹õ¤º¤ß¤Ê¤É |
#¥¯¥Ã¥·¥ó¥°¾É¸õ·² ²¼¿âÂμðáç¤Ë¤è¤ëÉû¿ÕÈé¼Á»É·ã¥Û¥ë¥â¥óACTH¤ÎʬÈç²á¾ê¤¬Æó¼¡Åª¤ËÉû¿ÕÈé¼Á¤òÈîÂ礵¤»Åü¼Á¥³¥ë¥Á¥³¥¤¥É¤¬²á¾êʬÈ礵¤ì¤ë¡£²¼¿âÂΤ¬¸¶È¯¤Ê¤Î¤ÇÉû¿ÕÈé¼Á¤Ë°ì»þŪ¤ÊÉÂÊѤÏ̵¤¤¡£¥¯¥Ã¥·¥ó¥°¾É¸õ·²¤È¤Î¾É¾õ¤Îº¹¤Ï¤Ê¤¤ |
unknown | ¿ |
159 |
Cyclopia ñ´ã¾É |
¥µ¥¤¥¯¥í¥Ô¥¢¡£Ìܤ¬°ì¤Ä | ¤Û¤«¤Î¼À´µ¤Î¹çÊ»¡¢¤Û¤«¤Ë¤â´ñ·Á¤¬Â¿È¯ | ÉÔÌÀ | ¾ưʪ¤Ë¤â |
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¡¼¥Ù¥ë¥Þ¥ó |
161 |
Cystinuria, type I - A µ-A·¿¥·¥¹¥Á¥óÇ¢¾É |
Ê¢Éô¤ÎÄˤߡ¢¿Õⳤޤ¿¤Ïç¯æù·ëÀС¢Ç¢Ï©´¶À÷¤ä¿ÕÉÔÁ´¡¢Ç¢Æ»ÊÄºÉ |
Genes:SLC3A1 ÀèÅ·ÀÂå¼Õ¼À´µ¤Î°ì¼ï¡£¥·¥¹¥Á¥óÇ¢¾É¤È¤Ï¥¢¥ß¥Î»À¥·¥¹¥Á¥ó¤ÎºÆµÛ¼ý¾ã³²¤Ë¤è¤êÇ¢ÃæÇÓÝõ¤¬Áý²Ã¤¹¤ë·ë²Ì¡¢Ç¢Ï©Æâ¤Ë¥·¥¹¥Á¥ó·ëÀФηÁÀ®¤ò¤¤¿¤¹Ç¢ºÙ´É¤Ë¤ª¤±¤ë°äÅÁÀ¤Î·ç´Ù 2013ǯBrons¤é¤Ë¤è¤Ã¤ÆʬÎàÂηÏ(¥¿¥¤¥×)³ÈÄ¥ |
AR | ¥Ë¥å¡¼¥Õ¥¡¥ó¡¢¥é¥Ö¾ |
162 |
Cystinuria, type II - A ¶-A·¿¥·¥¹¥Á¥óÇ¢¾É |
Ê¢Éô¤ÎÄˤߡ¢¿Õⳤޤ¿¤Ïç¯æù·ëÀС¢Ç¢Ï©´¶À÷¤ä¿ÕÉÔÁ´¡¢Ç¢Æ»ÊÄºÉ |
Genes:SLC3A1 ÀèÅ·ÀÂå¼Õ¼À´µ¤Î°ì¼ï¡£ÃæÀÇ¢¤Ë¤â´Ø¤é¤º·ëÀФ¬·ÁÀ®¤µ¤ì¤ë 2013ǯBrons¤é¤Ë¤è¤Ã¤ÆʬÎàÂηÏ(¥¿¥¤¥×)³ÈÄ¥ |
AD | A¥¥ã¥È¥ë¥É¥Ã¥° |
163 |
Cystinuria, type II - B ¶-B·¿¥·¥¹¥Á¥óÇ¢¾É |
Ê¢Éô¤ÎÄˤߡ¢¿Õⳤޤ¿¤Ïç¯æù·ëÀС¢Ç¢Ï©´¶À÷¤ä¿ÕÉÔÁ´¡¢Ç¢Æ»ÊÄºÉ |
Gene: SLC7A9 ÀèÅ·ÀÂå¼Õ¼À´µ¤Î°ì¼ï¡£ÃæÀÇ¢¤Ë¤â´Ø¤é¤º·ëÀФ¬·ÁÀ®¤µ¤ì¤ë 2013ǯBrons¤é¤Ë¤è¤Ã¤ÆʬÎàÂηÏ(¥¿¥¤¥×)³ÈÄ¥ |
AD | ¥ß¥Ë¥Ô¥ó |
164 |
Cystinuria, type III ··¿¥·¥¹¥Á¥óÇ¢¾É |
Ê¢Éô¤ÎÄˤߡ¢¿Õⳤޤ¿¤Ïç¯æù·ëÀС¢Ç¢Ï©´¶À÷¤ä¿ÕÉÔÁ´¡¢Ç¢Æ»ÊÄºÉ |
Gene: SLC7A9 ÀèÅ·ÀÂå¼Õ¼À´µ¤Î°ì¼ï¡£²ÃÎð¤È¤È¤â¤Ë·Ú¾É²½¤¹¤ë¸ÄÂΤ⤤¤ë¡£¼£ÎÅË¡¤Ï¥·¥¹¥Á¥óÇ¢ÀФÎÍϲò¤Ç¡¢¿©»öÎÅË¡¤ÈÍøÇ¢´ÉÍý¤äÇ¢¤Î¥¢¥ë¥«¥ê²½¤ÎÍÍ¡¹¤ÊÁȤ߹ç¤ï¤»¤Ë¤è¤ë 2013ǯBrons¤é¤Ë¤è¤Ã¤ÆʬÎàÂηÏ(¥¿¥¤¥×)³ÈÄ¥ |
¾ïÀ÷¿§ÂÎÀ | ¥Þ¥¹¥Á¥Õ¡¢¥À¥Ã¥¯¥¹Â¾ |
165 |
Deafness ÆñÄ° |
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¤¬»ëÄ°³Ð¤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·¿ÆñÄ° |
¼ª¤¬Ê¹¤³¤¨¤Ê¤¤¡¢Ê¹¤³¤¨¤Ë¤¯¤¤ | 1ºÐ¤«¤é9ºÐ¤¯¤é¤¤¤Î´Ö¤Ëȯ¾É¡¢Ê¿¶ÑŪ¤Ë¤Ï4ºÐ¤³¤í | unknown | ¥Ü¡¼¥À¡¼ |
167 |
Deficiency of cytosolic arylamine N-acetylation ¥¢¥ê¡¼¥ë¥¢¥ß¥ó¤ÈN -¥¢¥»¥Á¥ë¥È¥é¥ó¥¹¥Õ¥§¥é¡¼¥¼¤Î·ç˳ |
¢¨Éµ¤¤Ç¤Ï¤Ê¤¤ |
Genes: NAT1, NAT2 ¤¹¤Ù¤Æ¤Î¸¤¤Ï¾åµ°äÅÁ»Ò¤ò»ý¤¿¤º¡¢¤½¤·¤Æ¤½¤Î°äÅÁ»Ò¤Ï¾ïÀ÷¿§ÂÎÎôÀ°äÅÁ¤¹¤ë¤È¤¤¤¦¸¦µæ |
AR | Á´ |
168 |
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¥·¥¢ |
169 |
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 |
170 |
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 | * |
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 |
172 |
Dermatitis, atopic ¥¢¥È¥Ô¡¼ÀÈéÉæ±ê |
áڤߡ¢¼¾¿¾¡¢¥Õ¥±¡¢Ã¦ÌÓ¡¢È¯¿¾Éô°Ì¤Ï´éÌÌ¡¢»Í»è¤ÎÀè¡¢¤½¤±¤¤Éô¡¢¤ï¤¡£ | ¼¾¿¾(ÈéÉæ¤Î±ê¾É)¤òȼ¤¦¤â¤Î¤Î¤¦¤Á¡¢¥¢¥ì¥ë¥®¡¼È¿±þ¤È´ØÏ¢¤¬¤¢¤ë¤â¤Î¡£ÀèÅ·À¤Î²áÉҾɤΰì¼ï¡£·ëËì±ê¤äÇ¿Èé¾É¤Î¹çÊ» | unknown | ¿ |
173 |
Dermatofibrosis ÇżïÀÈéÉæÀþ°Ý¼ð (¤Ï¤·¤å¤»¤¤¤Ò¤Õ¤»¤ó¤¤¤·¤å) |
ñ°ì·¿¤Î¥Ç¥¥â¥Î¤¬Â¿¿ô¤Ç¤¤ë¡£Çżï¤È¤Ï¿¢Êª¤Î¼ï¤òÇŤ¯¤è¤¦¤Ë¹¤¬¤ë¤È¤¤¤Ã¤¿°ÕÌ£¡£ | ɽÁØÀ²õ»àÀÈéÉæ±ê¡¢¥Þ¥é¥»¥Á¥¢ÈéÉæ±ê¡¢Èé»éÁ£±ê¡¢·ëÀáÀÈéÉæÀþ°Ý¾É¡¢Æü¸÷ÈéÉæ±ê¡¢»èüÈéÉæ±ê¤Ê¤É°ì½ï¤Ëµ¯¤³¤ë¤³¤È¤â¤¢¤ë¡£¥Ö¥·¥å¥±¡¦¥ª¥ì¥ó¥É¥ë¥Õ¾É¸õ·²(AD)¡¢¹üÈéÉæÈÃÌæ¾É¡£ | ñ°ì°äÅÁ»Ò | ¥·¥§¥Ñ |
174 |
Dermatomyositis ÈéÉæ¶Ú±ê |
¼«¸ÊÌȱּÀ´µ¡£Á´¿È¤Î¶ÚÎϤÎÄã²¼¤ÈÈéÉæ¤Î±ê¾É¤Ê¤É¡£âۤμð¤ì¡¢»Ø¤äɪ¡¦É¨¤Î´ØÀá¤ÎÈ餬Çí¤±¤Æȯ¿¾¤¬½Ð¤Æ´Ë¤ä¤«¤Ë¶ÚÎϤÎÄã²¼¤¬µ¯¤³¤ë¡£È¯Ç®¡¢³èÆ°Äã²¼¡¢ÇٱꡢÉÔÀ°Ì® | ´¨¤¯¤Ê¤ë¤È¤È¤¯¤ËÆ°¤¤¬°¤¯¤Ê¤ë | unknown | ¥³¥ê¡¼¡¢¥·¥§¥ë¥Æ¥£¡¼ |
175 |
Dermatosis ÈéÉæÉ¡¢ÈéÉæ¼À´µ |
¤µ¤Þ¤¶¤Þ | ȯ¿¾¤ä¿åáפä¼ðáç¤Ê¤ÉÈéÉæ¤Ëµ¯¤³¤ëɵ¤¤ÎÁí¾Î¡£ÈéÉæ¤Î¾ÈïÌÓ¤â´Þ¤à¡£ | unknown | ¿ |
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¥¯ |
177 |
Diabetes ÅüǢɠ|
¿°û¿Ǣ¡¢¿©ÍßÁý²½(½é´ü)¤¹¤ë¤¬Á餻¤Æ¤¯¤ë¡¢¸µµ¤¾ÃÄÀ¡¢·ìÅüÃͤξ徺 | ÅüÂå¼Õ¤Î°Û¾ï¤Ë¤è¤Ã¤Æµ¯¤³¤ë¤È¤µ¤ì¡¢·ìÅüÃÍ(·ì±ÕÃæ¤Î¥Ö¥É¥¦ÅüÇ»ÅÙ)¤¬ÉÂŪ¤Ë¹â¤Þ¤ë¤³¤È¤Ë¤è¤Ã¤ÆÍÍ¡¹¤ÊÆÃħŪ¤Ê¹çÊ»¾É¤ò¤¤¿¤¹ | unknown | ¿ |
178 |
Diabetes insipidus Ç¢Êø¾É |
¿°û¿Ǣ | ¥Ð¥½¥×¥ì¥·¥ó(¹³ÍøÇ¢¥Û¥ë¥â¥ó¤Þ¤¿¤Ï·ì°µ¾å¾º¥Û¥ë¥â¥ó¤È¸Æ¤Ð¤ì¤ëǾ²¼¿âÂΤ«¤éʬÈ礵¤ì¤ë¥Ú¥×¥Á¥É¥Û¥ë¥â¥ó)·ç˳¤ä¼õÍÆÂΰ۾ï¤Ë¤è¤ë¿ǢÀ¼À´µ | unknown | ¥·¥å¥Ê¡¢¥·¥§¥Ñ |
179 |
Diabetes mellitus ¿¿ÀÅüǢɠ|
¿°û¿Ǣ¡¢¿©ÍßÁý²½(½é´ü)¤¹¤ë¤¬Á餻¤Æ¤¯¤ë¡¢¸µµ¤¾ÃÄÀ¡¢·ìÅüÃͤξ徺 | ¥¤¥ó¥¹¥ê¥óʬÈ礢¤ë¤¤¤ÏºîÍѤÎÉÔ¤ˤè¤ë»ý³Ū¹â·ìÅü¡£¥±¥È¥óÃßÀѤˤè¤êÓÒÅÇ¡¦Ã¦¿å | unknown | ¿ |
180 |
Diamond-Blackfan anaemia ¥À¥¤¥¢¥â¥ó¥É¡¦¥Ö¥é¥Ã¥¯¥Õ¥¡¥óÉÏ·ì |
̵µ¤ÎÏ¡¢¿©ÍßÉÔ¿¶¡¢Ã¦ÎÏ´¶¡¢±¿Æ°ÉÔÂÑ¡¢¸µµ¤¾ÃÄÀ¡¢Ç´Ëì¤ÎÁóÇò¡¢°À¼ðáç¤Î¹çÊ» | ¤Ä¤Þ¤ê¤«¤Ê¤ê¤ª¤È¤Ê¤·¤¤¤³¤È¤¬¼ç¾É¾õ¤ÎÀèÅ·ÀÄã·ÁÀ®ÀÉÏ·ì(ºÆÀ¸ÉÔÎÉÀÉÏ·ì¤Î°ì¼ï)¡£ÀÖ·ìµå¤·ì¤Î¤ß¤¬¾ã³²¤µ¤ì¤ë¤·ìÉÔÁ´¾É¤ÇÀèÅ·ÀºÆÀ¸ÉÔÎÉÀÉϷ졦ÀèÅ·ÀÀÖ²êµåáô(¤»¤ó¤Æ¤ó¤»¤¤¤»¤¤¬¤¤å¤¦¤í¤¦)¡£ÀÖ·ìµå·ÏºÙ˦Ãø¸º¡¢Ëö¾¿·ì¤ÏÌÖÀÖ·ìµå¸º¾¯¡£¥Ò¥È¤Î³ÎÄê¿ÇÃǤϹü¿ñÀü»É | unknown(AD¤âAR¤â¡Ë | ¥Þ¥¦¥¹ |
181 |
Disorder of cornification ³Ñ¼Á²½¾ã³² |
ÈéÉ椬³Ñ¼Á²½ | ÆâʬÈçÂå¼Õ¼À´µ¤Î¹çÊ»¤Ç¤âÈéÉæ¤Î¶ËÅ٤ʳѼÁ²½¤¬¸«¤é¤ì¤ë | unknown | ¥í¥Ã¥È |
182 |
Distichiasis âÌÌÓ½ÅÀ¸ |
Æó½Å¤Þ¤Ä¤² | ¤Þ¤Ä¤²¤¬2Îó¤ËÀ¸¤¨¤ë¡£³ÑËì±ê¤Ê¤É¤Ë¤Ä¤Ê¤¬¤ë | ¿°ø»Ò | ¿ |
183 |
Dwarfism ¾®¿Í¾É¡¢Äã¿ÈĹ¾É |
¶Ëü¤Ê¾®¤Ö¤ê | ¾É¾õ¤Î¤Ò¤È¤Ä¤È¤·¤ÆÄã¿ÈŤò¤¤¿¤¹ÍÍ¡¹¤Ê¼À´µ¤ò¾®¿Í¾É¤È¸Æ¾Î | unknown | ¥·¥§¥Ñ |
184 |
Dwarfism with anaemia ¾®¿Í¾ÉÉÏ·ì |
* | ¥Õ¥¡¥ó¥³¥Ë¡¼¾É¸õ·²¡¢Æð¹ü̵·ÁÀ®¾É»²¾È¡£¥¹¥È¥Þ¥È¥µ¥¤¥ÈÁý²Ã¾É | unknown | ¥Þ¥é¥ß¥å¡¼¥È |
185 |
Dwarfism, hypochondroplastic Æð¹üÄã·ÁÀ®¾É¤Ë¤è¤ë¾®¿Í¾É |
ÀèÅ·À¤Î»Í»èû½Ì·¿Äã¿ÈĹ¾É | ÊÌ̾¥¢¥¤¥ê¥Ã¥·¥å¥»¥Ã¥¿¡¼¾®¿Í¾É¡£½ÐÀ¸»þ¡ÁÎ¥Æý»þ¤Þ¤Ç¤Îɽ¸½·¿¤ÏÀµ¾ï¤ÇÀ¸¸å2¥ö·îȾ¡Á4¥ö·î¤Þ¤Ç¤ËÇعü¤È»Í»è¤ÎÀ®Ä¹¤¬Ãø¤·¤¯ÃÙ¤ì¤À¤¹¡£1998ǯ¥Î¥ë¥¦¥§¡¼¤Ç¥Æ¥¹¥È¸òÇÛ¤¬¤Ê¤µ¤ì°äÅÁŪ¡¢Î×¾²Åª¡¢·ÁÂַ׬¡¢XÀþ»£±Æ¡¢¹üÁÈ¿¥¤È·ìÞù¤È¾®¿Í¾É¤ÎÇ¢Ãæ¤ÎÀ¸²½³ØŪÆÃħ¤òÄ´¤Ù¤é¤ì¤¿ | AR | I¥»¥Ã¥¿¡¼ |
186 |
Dwarfism, pituitary ²¼¿âÂÎÀÄã¿ÈĹ¾É¡¢²¼¿âÂÎÀ¾®¿Í¾É |
Á´¿ÈÀȯ°éÉÔÁ´ |
Genes: ¿¤¯¤¬À¸¸å6½µ´Ö¤¯¤é¤¤¤«¤éÀ®Ä¹Ãٱ䡢ÂΤÎäÂÀ¤â¤â¤äÈø¤ÎæÌÓ¡¦ÌµÌÓ¡¢Çö¤¤ÈéÉ桦¤¦¤í¤³¾õ¡¢¤æ¤Ã¤¯¤ê¿Ê¤à²áÅ٤ο§ÁÇÄÀÃå¡¢Ä̾ïû̿ °äÅÁ»Ò¸¡ºº¥¢¥ê¡¡¥ª¥é¥ó¥À¥æ¥È¥ì¥Ò¥ÈÂç³Ø¤ÇG¥·¥§¥Ñ¤È¥Á¥§¥³¥¹¥ë¥Ð¥¥¢¥ó¥¦¥ë¥Õ¥É¥Ã¥° |
AR | G¥·¥§¥Ñ |
187 |
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 | * |
188 |
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 | * |
189 |
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¥¢ |
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 |
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 |
192 |
Ears, folded ¿â¤ì¼ª |
Ω¤Á¼ª¤ËÂФ·¤Æ¤Î¿â¤ì¼ª | * | unknown | * |
193 |
Eclampsia »Òáò |
¼øÆýÃæ¤Î¥á¥¹¤Î¹â·ì°µ¡¢áÛÚ»¤ä°Õ¼±¾ã³²¤Ê¤É¤ÎÃæ¿õ¿À·Ð¾É¾õ | °ÊÁ°¤Ï¥«¥ë¥·¥¦¥àÉÔ¤¢¤ë¤¤¤Ï¥«¥ë¥·¥¦¥à¤È¥ê¥ó¤ÎÈæΨ¤Ê¤ÉÇ¥¿±´ü¤«¤é¤Î¿©»ö¤Î±ÉÍÜÌ̤ËÌäÂê¤Î¤¢¤ë¼øÆýÃæ¤Î¥á¥¹¤¬¤ª¤Á¤¤¤ë»Í»èËãáã¤È¹Í¤¨¤é¤ì¤Æ¤¤¤¿¡£»ºêó¥Æ¥¿¥Ë¡¼¡£ »Òáò¤Ï¾É¸õ·²¤Ç¤¢¤êÉÂÂÖ¤ÎËܼÁ¤Ï»ÒáòÁ°¾É(Ç¥¿±ÃæÆǾÉ)¤Ç¤¢¤ë¡£»ÒáòÁ°¾É¤È¤ÏÇ¥¿±¹â·ì°µ¾É¸õ·²¤ËÃÁÇòÇ¢¤¬¹çÊ»¤·¤¿¾õÂÖ¤ò¸À¤¤¡¢¤³¤ì¤¬½Å¾É²½¤·¤ÆáÛÚ»¤ä°Õ¼±¾ã³²¤Ê¤É¤ÎÃæ¿õ¿À·Ð¾É¾õ¤¬µ¯¤¤¿¾ì¹ç¤Ë»Òáò¤È¸Æ¤Ö | unknown | ¼ç¤Ë¾®·¿¸¤¡¢Â¿ÂÛ»þ |
194 |
Ectodermal dysplasia ³°æõÍÕ°Û·ÁÀ® |
»õ¡¢ÂÀè¤Î¹ü³ÊÉÔÁ´¡¢ÆýÁ£¤Îȯ°éÉÔÁ´¡¢Äޤΰ۾ÈéÉ椬¼å¤¯´¥Á礷ÌÓ¤¬¤Þ¤Ð¤é |
Gene: FOXI3 ¸ý¿°¸ý³¸Îö¤äÆñÄ°¡¢³ÑËì¤äÆúºÌ¤Î°Û¾ï¡¢¿Õ¡¤Ê¤É¾¡´ï¼À´µ¤Î¹çÊ»¤â¤¢¤ë¡£Ì¤½Ï»ù¤ÇÀ¸¤Þ¤ì¤ÆÌÓ¤âÀ¸¤¨¤½¤í¤Ã¤Æ¤¤¤º¼å¤¯Áá»à¤Ë¤¹¤ë¥ª¥¹¤Î»Ò¸¤¤Ï¤³¤ì¤âµ¿¤ï¤·¤¤¡£¼Ò²ñ²½´ü¤òȾʬĶ¤¨¤ë¤Û¤É°é¤Æ¤ÐÀ¸Ì¿Í½¸å¤ÏÎɤ¤¡£ |
X-link | * |
195 |
Ectodermal dysplasia/skin fragility syndrome ³°æõÍÕ°Û·ÁÀ®¤Ë¤è¤ëÈéÉæÀȼå¾É¸õ·² |
À¸¸å48»þ´Ö°ÊÆâ¤Ë»Ï¤Þ¤ëÈéÉæ¤ÎæÍî |
Gene: PKP1 É¡¡¦¿°¡¦Ìܤμþ°ÏÉôʬ¤Î¾¡¢æþãݤäÁÍ·ÂÉô¤äÈø¤ÎÉÕ¤±º¬¤Ê¤É¤ËµµÎö¤¬Æþ¤ê¤Ó¤é¤ó(ɽÈ餬¤¯¤º¤ì¤Æ²¼¤ÎÁÈ¿¥¤¬¤à¤½Ð¤·¤Ë¤Ê¤ë¤è¤¦¤Ê¾õÂÖ)¤¬µ¯¤¤ë |
AR | C¥ì¥È¥ê¥Ð¡¼ |
196 |
Ectopic ureter °Û½êÀÇ¢´É |
Ç¢¼º¶Ø | ¿Õ¡¤«¤éç¯æù¤Ë¤Ä¤Ê¤¬¤ëÇ¢´É¤¬ËÜÍè¤Îç¯æù°Ê³°¤Î¾ì½ê¤Ë³«¸ý¤¹¤ë¡£Ç¢¼º¶Ø¤ÏÀÀ®½Ï¸å¡ÊÉÔÇ¥¼ê½Ñ¤òºÑ¤Þ¤»¤¿¸å¤Ê¤É¡Ë¤Ë½ù¡¹¤Ë¾É¾õ¤¬½Ð¤ë¤³¤È¤â¡¢»Ò¸¤¤Î¤¦¤Á¤«¤é»ý³Ū¡Ê´ò¥·¥ç¥ó¤È´Ö°ã¤ï¤ì¤ë¡Ë¤Ê¤³¤È¤â¤¢¤ê¡¢¤É¤Á¤é¤Ë¤â¶¦Ä̤·¤Æ¼º¶Ø¤È¤ÏÊ̤ËÇÓÇ¢¤Ç¤¤ë¤È¤¤¤¦ÆÃħ¤¬¤¢¤ë | ¿°ø»Ò | ¿ |
197 |
Ectrodactyly ·ç»Ø¾É |
»Ø¤Î¿ô¤¬Â¤ê¤Ê¤¤¡¢¤½¤Î¾¹ü³Ê¤ÎÉÂŪÊÑ·Á | Ãæ¹ü¤ÎËÜ¿ô¼«ÂΤÏÀµ¾ï¤À¤¬1ËܤÎÃæ¹ü¤«¤é2Ëܰʾå¤Î´ðÀá¹ü¤¬½Ð¤ë¤Ê¤É | unknown | ¥¦¥§¥¹¥Æ¥£¡¢¥Ï¥¹¥¡¼¡¢»¨¼ï |
198 |
Ectromelia ´ñ»è¾É¡¢»è·ç»´ñ·Á |
ÂΤÎÀèü¤Î¹ü³Ê´ñ·Á | ¼êº¬¹ü¤«¤éÀ褬̵¤¤¡¢Ãæ¹ü¤«¤éÀ褬̵¤¤¤Ð¤«¤ê¤«1Ëܤθå»è¤ËŤá¤ÎÃæ¹ü¤¬2ËÜʬ¤¢¤êÀèü¤¬U¥¿¡¼¥ó¤·¤Ææú¹ü¤Ë¸þ¤¤¤Æ¤¤¤ë¤Ê¤É¡£ÄÞ¤ÎÀè¤À¤±¤Ë°Û¾ï¤¬¸½¤ì¤ë¤³¤È¤â¤¢¤ë¡£ | unknown | * |
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¥¤ |
200 |
Ehlers-Danlos syndrome ¥¨¡¼¥é¥¹¡¦¥À¥ó¥í¥¹¾É¸õ·² |
ÈéÉæ¤Î²á¿Å¸¡¢ÀȼåÀ¡¢·ì¼ð¤¬Ç§¤á¤é¤ì¡¢´Ö»¤Éô¤ÎÁýÂç¤Ë¤è¤êÁßáÚ¤ò¼¨¤¹(Wiki) | ¥³¥é¡¼¥²¥óÀþ°Ý·ÁÀ®µ¡¹½¤Î°Û¾ï¤ò¸¶°ø¤È¤¹¤ë¾É¸õ·²¡£ÈéÉæ̵ÎϾɡ¢ÈéÉæÀȼå¾É¡¢²á¾êÃÆÎÏÀÈéÉæ¤È¤â¸Æ¤Ð¤ì¤ë(Wiki) | AD | ¿¡¢¥¦¥µ¥®¡¢Ç¡¢ÇÏ¡¢ÍÓ |