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101 Cerebellar Purkinje cell degeneration
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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
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* ¥­¥¢¥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
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106 Chondrodysplasia
Æð¹ü·ÁÀ®ÉÔÁ´
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107 Chondrodysplasia, disproportionate short-limbed
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¶Ëü¤Êû­ Genes: FGF4
Æð¹ü¤ò´Þ¤à¹üüÈĤ¬¿·¤·¤¤¹üºÙ˦¤ò¤Ä¤¯¤é¤º¡¢¹ü¤ÎÀ®Ä¹¤¬Á˳²¤µ¤ì¤ë
2013/12ÄɲÃ
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
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¶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·ìÉÂ
°×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夭¤Î¤Ê¤¤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
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112 Chylothorax
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113 Ciliary dyskinesia, primary
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½ÐÀ¸»þ¤«¤éÃû¸õ¤¬¤¢¤ë¤¬¸ÄÂκ¹¤¬Â礭¤¤¡£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
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114 Cleft lip and palate
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115 Cleft lip with or without cleft palate
*¸ý³¸Îö¤ÎÍ­¤ë̵¤·¤Ë´Ø¤ï¤é¤Ê¤¤¸ý¿°Îö
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116 Cleft palate
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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
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120 Coat colour, albinism, oculocutaneous type IV
´ãÈéÉæIV·¿¥¢¥ë¥Ó¥Î
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121 Coat colour, brown
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122 Coat colour, cream dilution
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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
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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 Genes: SILV Gene: PMEL
*
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¥¯ÉÂ
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礭¤Ê·ç»¤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¿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
¥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¥ÃǤʤÉ
¿°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礭¤±¤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
¾ïÀ÷¿§ÂÎÀ­¡¢unknown(AR¤â)AID ¥¦¥¨¥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¸ÃæÎÏÉÔ­¤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¥°ÉÂ
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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
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160 Cystic bone lesions
*ǹ˦À­¹üÁÈ¿¥¾ã³²
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¤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°
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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
ÊÑÀ­Ç¾¾É
¿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礭¤¤¡¢¤È¤¤¤Ã¤¿Àµ¾ï¤È¤Î¶­Ìܤ¬¤ï¤«¤ê¤Ë¤¯¤¤¾É¾õ¤«¤é»Ï¤Þ¤ë¤è¤¦¤À¡£Âà¹ÔÀ­Ç¾¾É¤¬¿Ê¹Ô¤·Áû²»¶²ÉݾɤäÊâ¹Ô°Û¾ï¤Ë¤Ä¤Ê¤¬¤ë¡£ÉÂÍýŪ¤Ë¤Ï³¥Çò¼ÁÊÑÀ­¤Ë³¤¯²õ»à¡©¡©
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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
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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
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175 Dermatosis
ÈéÉæÉ¡¢ÈéÉæ¼À´µ
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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
ÅüÇ¢ÉÂ
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178 Diabetes insipidus
Ç¢Êø¾É
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179 Diabetes mellitus
¿¿À­ÅüÇ¢ÉÂ
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180 Diamond-Blackfan anaemia
¥À¥¤¥¢¥â¥ó¥É¡¦¥Ö¥é¥Ã¥¯¥Õ¥¡¥óÉÏ·ì
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181 Disorder of cornification
³Ñ¼Á²½¾ã³²
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182 Distichiasis
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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´¿ÈÀ­È¯°éÉÔÁ´ Genes:POU1F1LHX3
¿¤¯¤¬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
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AR G¥·¥§¥Ñ
187 Dysautonomia
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188 Dyskinesia, paroxysmal
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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
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190 Dysplasia epiphysealis hememelica
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191 Early retinal degeneration
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ÌëÌÕ¡¢Æ·¹¦¼ý½ÌÃÙ±ä Gene: STK38L
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192 Ears, folded
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193 Eclampsia
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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
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À¸¸å48»þ´Ö°ÊÆâ¤Ë»Ï¤Þ¤ëÈéÉæ¤ÎæÍî Gene: PKP1
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196 Ectopic ureter
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197 Ectrodactyly
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198 Ectromelia
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199 Ectropion
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200 Ehlers-Danlos syndrome
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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



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