¸¤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·ÁÂÖ | ¸¦µæ¤µ¤ì¤¿¸¤¼ï |
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501 |
Neutropenia, cyclic ¼þ´üÀ¹¥Ãæµå¸º¾¯¾É |
¼þ´üŪ(Ê¿¶Ñ10¡Á12Æü¥µ¥¤¥¯¥ë)¤ÊºÆȯÀȯǮ¡¢¿©ÍßÉÔ¿¶¡¢¸«Åö¼±¾ã³²¡¢¿¶Àï¡¢·ÚÅ٤β¼Î¡¡¢Æâ½Ð·ì(¤¢¤¶)¡¢°×´¶À÷À |
Genes: AP3B1 ÊÌ̾¥°¥ì¡¼¥³¥ê¡¼¾É¸õ·²¡£Çò·ìµå¤Î¶Ëü¤Ê¸º¾¯¤Ë¤è¤ê´¶À÷¾É¤Ë¤è¤Ã¤ÆÁá´ü»àË´¡£¥°¥ì¡¼(¸¤¤ÎÌÓ¿§¤Î¸Æ¤ÓÊý¤È¤·¤Æ¤Ï¥Ö¥ë¡¼)¤Î¥é¥Õ¥³¥ê¡¼¡¢¥¹¥à¡¼¥¹¥³¥ê¡¼¡¢¥Ü¡¼¥À¡¼¥³¥ê¡¼¡¢¥¢¥á¥ê¥«¥ó¥³¥Ã¥«¡¼¥¹¥Ñ¥Ë¥¨¥ë¡¢¥Ý¥á¥é¥Ë¥¢¥ó¤Ëµ¯¤¤ë¤È¸À¤ï¤ì¤ë¤¬¡¢¥Ö¥ë¡¼¤òȯ¸½¤¹¤ë¥À¥¤¥ê¥å¡¼¥·¥ç¥ó°ø»ÒÎôÀ¥Û¥âdd¤Î¸¤¤ÎÂç¿¿ô¤Ï¤³¤Î¼À´µ¤È¤Ï̵±ï¤Ê¤Î¤Ç¡¢dË¿¤È¤¤¤¦°ø»Ò¤¬¸¶°ø¤Ç¤¢¤ë¤Î¤«¤Þ¤¿¤Ï¤³¤Î¼À´µ¤Î°ø»Ò¤¬¹õ¤¤¿§ÁǤòÂ࿧¤µ¤»¤ë¤Î¤«¤ÏÉÔÌÀ |
AR | ¥³¥ê¡¼ |
502 |
Niemann-Pick disease ¥Ë¡¼¥Þ¥ó¥Ô¥Ã¥¯É |
¿·À¸»ù´ü;ÂÛ»ùÊ¢¿å¡¢´Î磼𡢴ÎÉÔÁ´¤ä¸ÆµÛº¤Æñ¤Ç»àË´¡£ Íĸ¤´ü;¥Ê¥Ã¥¯¥ê¥ó¥°¡¢¥Ð¥é¥ó¥¹ÁÓ¼º¡¢Ãæ¿õ¿À·Ð¾É¾õ¡¢´Î磼ð¡¢áÛÚ» |
¥é¥¤¥½¥¾¡¼¥à¼À´µ¡¢»é¼ÁÂå¼Õ°Û¾ï¾É¡£»ÀÀ¥¹¥Õ¥£¥ó¥´¥ß¥¨¥ê¥Ê¡¼¥¼·ç»¤Ë¤è¤ë°äÅÁÀ¤ÎºÙ˦Æâ»é¼ÁÃßÀÑ¾É | AR | * |
503 |
Niemann-Pick disease, type A ¥Ë¡¼¥Þ¥ó¥Ô¥Ã¥¯ÉÂA·¿ |
´Î磼ð¡¢À®Ä¹ÉÔÁ´¡¢µÞ®¤Ê¿Ê¹ÔÀ¤Î¿À·ÐÊÑÀ¤ÇÁá´ü»àË´ | »ÀÀ¥¹¥Õ¥£¥ó¥´¥ß¥¨¥ê¥Ê¡¼¥¼¤¬Â礤¯·ç»¡£¥Ò¥È¤Ç¤Î³ÎÄê¿ÇÃǤϴÎ磼ð¤òǧ¤á¤¿¾å¤ÇÇò·ìµå¤Ç¤Î¥¹¥Õ¥£¥ó¥´¥ß¥¨¥ê¥Ê¡¼¥¼¤ÎÄêÎ̤«¤é²Äǽ | AR | ¥×¡¼¥É¥ë¡¢Ç¡¢µí¡¢¥¢¥é¥¤¥°¥Þ |
504 |
Niemann-Pick disease, type C ¥Ë¡¼¥Þ¥ó¥Ô¥Ã¥¯ÉÂC·¿ |
ȯ¾ÉǯÎð¤Ï¤Þ¤Á¤Þ¤Á¡£Ã×̿Ū¼À´µ | ºÙ˦¤ÎÃæ¤Ç¥³¥ì¥¹¥Æ¥í¡¼¥ë¤ä¾¤Î»é¼Á¤òŬÀÚ¤ËÂå¼Õ¤µ¤»¤ë¤³¤È¤¬¤Ç¤¤Ê¤¤¤¿¤á ´Î¡¤äç£Â¡¤ÎÃæ¤Ë¥³¥ì¥¹¥Æ¥í¡¼¥ë¤¬²áÅÙ¤ËÃßÀѤµ¤ì¡¢Ç¾¤Ë¤ª¤¤¤Æ¾¤Î»é¼Á¤ÎÎ̤¬²áÅÙ¤ËÁý¤¨¤ë¡£ | AR | * |
505 |
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 |
506 |
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¿¶»ÒÍʹ㿶¡Ê°ìÄê®Å٤ǿ¶»Ò¤Î¤è¤¦¤Ê±ýÉü±¿Æ°¤ò¤¹¤ë¡Ë¡¢
¾×Æ°À´ã¿¶¡Ê°ìÊý¤Ø´Ë¤ä¤«¤ËÆ°¤¡¢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 |
Obesity ÈîËþ |
¸¶°ø°äÅÁ»Ò¤Î·çÇ¡¤È¿©ÍßÁý¿Ê¡¦ÂνÅÁý²Ã¤Î´ØÏ¢À | ¥×¥í¥ª¥Ô¥ª¥á¥é¥Î¥³¥ë¥Á¥ó¡ÊPOMC¡Ë°äÅÁ»Ò¤Î·è¼º¡£POMC¤Ï¼ç¤Ë²¼¿âÂΤǻºÀ¸¤µ¤ì¤ë¥Ý¥ê¥Ú¥×¥Á¥ÉÁ°¶îÂÎ | ¿°ø»Ò | ¥é¥Ö¡¢¥Õ¥é¥Ã¥È |
508 |
Occipital dysplasia ¸åƬÉô°Û·ÁÀ® |
¼ó¼þÊÕ¤ÎÄˤߡ¢¤Æ¤ó¤«¤óÍÍȯºî¡¢¿åƬ¾É¤Ë»÷¤¿¾É¾õ¡¢Ìµ¾É¾õ¤Î¾ì¹ç¤â¤¢¤ë | ÊÌ̾Âç¸åƬ¹¦·ÁÀ®ÉÔÁ´¡£Ä̾ï¤ÏƬ³¸¹ü¤Î²¼(¼ó¦)¤ËÀÔ¿ñ¤¬Ä̤ë·ê¤¬´Ý¤¯³«¤¤¤Æ¤¤¤ë¤¬°Û·ÁÀ®¤Î¾ì¹ç¤Ï±ß¤Î°ìÉô¤¬ÏĤ߸°·ê·Á¤Î¹¦¤È¤Ê¤ë¡£Ìµ¾É¾õ¤Ç°ìÀ¸¤ò½ª¤¨¤ë¸¤¤â¤¤¤ë¤¬¡¢¸°·ê·Á¤ÎÉôʬ¤ËǾ¤¬Íî¤Á¹þ¤à¤È¿À·Ð¾É¾õ¤¬½Ð¤ë¡£»þ¡¹²¿¤Ç¤â¤Ê¤¤¤Î¤Ë¾®¤µ¤¯ÄˤߤòÁʤ¨¤¿¤ê±¿Æ°¸å¤äµ¤°µ¤ÎÊѲ½¤Çȯºî¤¬µ¯¤¤ë¤³¤È¤â¤¢¤ê¡¢Â¿¤¯¤Ï4ºÐº¢¤Þ¤Ç¤Ë¾É¾õ¤¬½Ð·¤¦¡£Æð¹ü̵·ÁÀ®¾É¤È¹çÊ»¤¹¤ë¤³¤È¤â¤¢¤ë¡£»²¾È¥¥¢¥ê´ñ·Á¡¢¿åƬ¾É | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ý¥á¡¢¥Á¥ï¥ï¤Ê¤É¥È¥¤ |
509 |
Ocular melanosis ´ã¥á¥é¥Î¡¼¥·¥¹ |
ξÌܤοʹÔÀ¿§ÁÇÄÀÃå | ÎÐÆâ¾ã¡¢¼ºÌÀ¤Ø¤È¤Ä¤Ê¤¬¤ë¤³¤È¤¬Â¿¤¤¡£ | AD | ¥±¥¢¥ó¥Æ¥ê¥¢ |
510 |
Oculoskeletal dysplasia ¹ü³Ê-´ã¾É |
¹ü³Ê¤ÈÌܤ˾㳲 | »²¹Í; ¥¹¥Æ¥£¥Ã¥¯¥é¡¼¾É¸õ·²¡¢¥¯¥Ë¡¼¥¹¥È¾É¸õ·² | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
511 |
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 |
512 |
Oculoskeletal dysplasia, 2 *¹ü³Ê-´ã¾É¡¡2·¿ |
¹ü³Ê-´ã¾É»²¾È |
Genes: COL9A3 ¹ü³Ê-´ã¾É»²¾È |
AR | ¥é¥Ö¡¢¥µ¥â¥¨¥É |
513 |
Oesophageal motility disorder ¿©Æ»±¿Æ°¾ã³² |
Âñդ俩ʪ¤ÎµÕή¡¢ÓÒÅÇ |
»²¹Í;¥¢¥«¥é¥·¥¢¤Ê¤É ½Å¾É¶Ú̵ÎϾɤä¿ȯÀ¶Ú±ê¡¦Â¿È¯À¿À·Ð±ê¤Ê¤É¾¤Î¼À´µ¤Î¹çÊ»¤È¤·¤ÆÀ¸¤Þ¤ì¤Ä¤¤³¤Î¼À´µ¤ò»ý¤Ä¸¤¤ÏÎ¥Æý¿©¤Îº¢¤Ë¾É¾õ¤¬Â礤¯¤Ê¤ê¤ä¤¹¤¯¡¢¤Þ¤¿¼£ÎŤ¬¸ú¤¯¥±¡¼¥¹¤â¤¢¤ë¤¬¡¢´ðÁüÀ´µ¤À¤È¼£ÎŤθú²Ì¤¬Çö¤¤¤è¤¦¤À¡£À®Ä¹¸å¹Ã¾õÁ£µ¡Ç½Äã²¼¤Ë¹çÊ»¤¹¤ë¤³¤È¤â¤¢¤ë¡£µá¿´À¤ÎÌÂÁö¿À·Ð¾ã³² |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
514 |
Oligodontia ÉôʬŪ̵»õ¾É |
¼ç¤Ë¾®±±»õ¤Î·ç»(?)¤Ç¡¢Â¸ºß¤¹¤ë»õ¤Î·Á¾õ¤¬Æðۤʤ³¤È¤â¤¢¤ë¡£Æý»õ¡¦±Êµ×»õ¤È¤â»õ¤¬1Ëܤޤ¿¤ÏÊ£¿ô¤ê¤Ê¤¤¤³¤È¡¢·ç»õ | ¹ç»Ø¾É¤È¹çÊ»¤·¤¿Î㥢¥ê¡£¤¢¤ëÉôʬ¤ÎÆý»õ¤¬·ç»¤·¤Æ¤¤¤ì¤Ð¤«¤Ê¤ê¤Î³ÎΨ¤Ç¤½¤ÎÉôʬ¤Î±Êµ×»õ¤¬·ç»¤¹¤ë¡£ÂΤΥµ¥¤¥º¤Ë´Ø·¸¤Ê¤¯¸¤¤ÎÆý»õ¤Ï28ËÜ¡¢±Êµ×»õ¤Ï42ËÜ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥±¥ê¡¼¥Ö¥ë¡¼¡¢¥¢¡¼¥Õ¥§¥ó¥Ô¥ó¥·¥ã¡¼ |
Onychodystrophy ÄÞ¥¸¥¹¥È¥í¥Õ¥£¡¼ |
ÄÞ¤ÎæÍî(Á´Éô)¡¢Ç˹ԡ¢¤½¤ÎÉôʬ¤ÎÄË¤ß | ȯ¾ÉǯÎð¤ÏÀ¸¸å6¥ö·î¤«¤é8ºÐ¤ÈÉý¹¤¤¡£¥×¥ì¥É¥Ë¥¾¥í¥ó¤¬¸ú¤¯¤³¤È¤¬Â¿¤¤¡£¥¸¥¹¥È¥í¥Õ¥£¡¼¤È¤ÏÂå¼Õ°Û¾ï¤Ë¤è¤ëÁÈ¿¥¤Îȯ°éÉÔÁ´¤Èµ¡Ç½°Û¾ï¤òȼ¤¦ÉÂÂÖ¤ÎÁí¾Î | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | E¥»¥Ã¥¿¡¼¡¢G¥»¥Ã¥¿¡¼¡¢¥Ý¥¤¥ó¥¿¡¼ | |
515 |
Onychomadesis, symmetrical ÂоÎÀÄÞ¹ÃæÍî¾É |
ÄÞ¤¬Çí¤¬¤ì¤ë¡¢³ä¤ì¤ë¡¢¤È¤ì¤ë | ¹Ã¾õÁ£µ¡Ç½Äã²¼¾É¤ÈÇò·ìµå¹³¸¶¡ÊDLA¡Ë¥¯¥é¥¹¶¤ÈÄÞ¹ÃæÍî¤ÎÀøºßŪ´ØÏ¢À¤Î¸¦µæ¡£¡Ê¹Ã¾õÁ£µ¡Ç½Äã²¼¾É¤ÏDLA°äÅÁ»Ò¤¬Â¾¤Î°ø»Ò¤È¤È¤â¤ËÉ°ø¤Ë´ØÍ¿¤·¤Æ¤¤¤ë²ÄǽÀ¤¬¤¢¤ëÊ£»¨¤Ê¼À´µ¡Ë¡£Çò·ìµå¹³¸¶¤Ï¥Ò¥È¤Î¾ì¹çHuman Leukocyte Antigen¡¢Ä̾ïHLA·¿¤È¸Æ¤Ð¤ì¹ü¿ñ°Ü¿¢¤ÎºÝ¤ËÈó·ì±ï¼Ô´Ö¤ÎŬ¹ç³ÎΨ¤¬¿ôÀé¡Á¿ôËüʬ¤Î°ì¤È¤¤¤ï¤ì¤Æ¤¤¤ë¥¢¥ì¤Ç¡¢¸¤¤â¤½¤Î·¿¤Î¼ïÎà¤Ï¿¤¤ | unknown | E¥»¥Ã¥¿¡¼¡¢G¥»¥Ã¥¿¡¼ |
516 |
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¥£ |
517 |
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¥£ |
518 |
Orchitis ÀºÁã±ê |
¥ª¥¹¸¤¤ÎÊÒÊý¤Þ¤¿¤ÏξÊý¤ÎÀºÁã¤Î±ê¾É¡¢ÉÔ²÷´¶¤Î¤¿¤áºÂ¤ê¤¿¤¬¤é¤Ê¤¤ | ±ê¾É¤Ï±¢Ç¹¤Þ¤Ç±äŤ¹¤ë»ö¤â¤¢¤ë¡£Àº»Ò¤ÎÀ¸»º¤Ë±Æ¶Á¤òµÚ¤Ü¤¹¤³¤È¤â¤¢¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
519 |
Osmotic resistance of erythrocytes ÀÖ·ìµå¿»Æ©°µÄñ¹³ |
ËýÀŪ¤ÊÉϷ졦æ¿å¡¢ºÆȯ¤¹¤ë²«áÕ | ÀÖ·ìµå¿»Æ©°µÄñ¹³¸¡ºº¤È¤ÏÀÖ·ìµå¤ÎʪÍýŪ¤Ê³°ÎϤˤè¤êÊø²õ¡ÊÍÏ·ì¡Ë¤¹¤ë¤¬¡¢¤³¤ì¤ËÂй³¤¹¤ëǽÎϤò¤ß¤ë¸¡ºº¡£ÍÏ·ìÀÉÏ·ì¤Ê¤É¤Ç¼å¤¯¤Ê¤ë¡£1964ǯ¤Ë¥Õ¥©¥Ã¥¯¥¹(Dr.Michael W.Fox??)¤¬¸¦µæ¤·¤Æ¤¤¤¿ÌÏÍÍ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
520 |
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 |
521 |
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 |
522 |
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 |
523 |
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¥¢ |
524 |
Osteochondromatosis ¹üÆð¹ü¼ð¾É |
´ØÀá¤Î°Û·ÁÀ® | AD¤Î¹ü·ÁÀ®ÉÔÁ´¾É¤Ê¤É | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Þ¥é¥ß¥å¡¼¥È |
525 |
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 |
526 |
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 |
527 |
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 |
528 |
Osteogenesis imperfecta, COL1A2-related COL1A2´ØÏ¢·¿¡¡¹ü·ÁÀ®ÉÔÁ´¾É |
Ëöüû½Ì¡¢½ÅÅ٤ιü·ÁÀ®ÉÔÁ´ |
Gene: COL1A2 * |
AD | ¥Ó¡¼¥°¥ë |
529 |
Osteogenesis imperfecta, generic 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¤¤ |
AD | ¥Ù¥É¥ê¥ó¥È¥ó¡¢¥×¡¼¥É¥ë¡¢G¥·¥§¥Ñ¡¢¥ï¥¤¥Þ |
530 |
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 |
531 |
Osteogenesis imperfecta, type III, COL1A1-related COL1A1´ØÏ¢·¿¡¡··¿¹ü·ÁÀ®ÉÔÁ´¾É |
¹ü·ÁÀ®ÉÔÁ´¾É»²¾È |
Gene: COL1A2 * |
AD | ¥´¡¼¥ë¥Ç¥ó |
532 |
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 | ¿ |
533 |
Otitis externa, susceptibility to *³°¼ª±ê¤Ë¤«¤«¤ê¤ä¤¹¤¤ |
³°¼ª¤Î±ê¾É | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | G¥·¥§¥Ñ¤Ê¤É¿¼ï |
534 |
Otitis media, susceptibility to *Ã漪±ê¤Ë¤«¤«¤ê¤ä¤¹¤¤ |
Ã漪¤Î±ê¾É | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | Ǥʤɤâ |
535 |
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 |
536 |
Palmoplantar keratoderma, nonepidermolytic, focal 1 ¾¸í¨³ÑÈé¾É |
¥Ñ¥Ã¥É¤¬°Û¾ï¤Ëʬ¸ü¤¯¤Ê¤ë |
Gene: KRT16 * |
AR | B¥Þ¥¹¥Á¥Õ |
537 |
Pancreatic insufficiency, exocrine ç¹³°Ê¬ÈçÉÔÁ´ |
ÓÒÅÇ¡¢¿åÍͲ¼Î¡¡¢Á餻¡¢Ê¢ÄË | ÊÌ̾ç¹Â¡°à½Ì¡¦ç¹Â¡Á£Ë¼°à½Ì¡£1¡Á3ºÐ¤Î´Ö¤Ë¸«¤é¤ì¤ä¤¹¤¯¡¢ºÇ½é¤Ï¿©Íߤ¬ÊѤï¤é¤Ê¤¤¤Î¤ËÂνŤ¬¸º¾¯¤¹¤ë¡¢²¼Î¡¤Ï³¥¿§¤Ã¤Ý¤¯Ìý¤Ã¤Ý¤¤½¤¤¤Î»éËÃÊØ¡¢ç¹¾Ã²½¹ÚÁÇʬÈç¤Î¸º¾¯¡£ç¹Â¡¤ÎÁ£Ë¼¤Î³°Ê¬È絡ǽ¤ÎÁÓ¼º¤Ë¤è¤ê¾Ã²½¹ÚÁǤ¬Ê¬È礵¤ì¤Ê¤¯¤Ê¤ë¤³¤È¤ò¸¶°ø¤È¤¹¤ë¾Ã²½µÛ¼ýÉÔÎÉ¡£¾Ã²½ÉÔÎɤˤè¤ë±ÉÍÜÉÔÎɤÇÈéÉæ¤Î´¥Á硦ÉÏÌÓ¡¦Ã¦ÌÓ¡¦ÀÖ·ìµå¸½¾Ý¡¦¶ÚÆù¤Î¸º¾¯¤Ê¤É¤Ë¿Ê¤à | AR | G¥·¥§¥Ñ |
538 |
Pancreatitis, hereditary °äÅÁÀç¹±ê |
»éËÃÊØ¡¢¶¯¤¤Ê¢ÄË¡¢ÓÒÅÇ¡¢È¯Ç®¡¢¸µµ¤¾ÃÄÀ¡¢¥·¥ç¥Ã¥¯ |
Genes: SPINK1 ¥¿¥ó¥Ñ¥¯¼Á¤òʬ²ò¤¹¤ë¾Ã²½¹ÚÁǥȥê¥×¥·¥ó¤Î°äÅÁ»Ò°Û¾ï¡£ç¹Â¡¤ÎÃæ¤Ç³èÀ²½¤µ¤ì¤¿¥È¥ê¥×¥·¥ó¤¬¥¿¥ó¥Ñ¥¯Ê¬²ò¹ÚÁǤȤ·¤ÆĹ»þ´ÖƯ¤¡¢ç¹Â¡¼«ÂΤò¾Ã²½¤¹¤ë(¼«¸Ê¾Ã²½)¤ÈµÞÀ繱ꡣµÞÀç¹±ê¤ò·«¤êÊÖ¤¹¤ÈËýÀç¹±ê¤Ë¤¤¤¿¤ë¡£Ê¢Äˤ¬¶¯¤¤»þ¤Ï¿¤Ó¤ò¤¹¤ë¤è¤¦¤Ê¾åȾ¿È¥Õ¥»²¼È¾¿Èµ¯Î©¤Î»ÑÀª(¤ªÊ¢¤¬Äˤ¤»þ¤Ë¤·¤Æ¤·¤Þ¤¦»ÑÀª)¤¬¸«¤é¤ì¤ë |
¤¿¤Ö¤óAD | M¥·¥å¥Ê |
539 |
Paresis, posterior *¸åÉôËãáã |
¸å»è¤Î¤Þ¤Ò | Ãæ¿õ¿À·Ð·Ï¡¢µÞÀ¸åÉô¡Ê²¼È¾¿È¡Ë¤Þ¤Ò¡£ÀÅÌ®¤Þ¤¿¤ÏÆ°ÀÅÌ®ºÉÀò¤Ë¤è¤ë²õ»àÀÀÔ¿ñ¾É¡¢µõ·ìÀÀÔ¿ñ¾ã³²¡¢Í½¸åÉÔÎÉ | unknown | * |
540 |
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 | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¿ |
541 |
Patent ductus arteriosus Æ°Ì®´É³«Â¸ |
¿´Â¡¼À´µ¾É¾õ¡¢Ã»Íí·ì±ÕÎ̤ÈÇÙ·ì´ÉÄñ¹³À¤Ç¾É¾õ¤¬ÊѤï¤ë¡¢±¦¿´ÉÔÁ´¤Þ¤¿¤Ïº¸¿´ÉÔÁ´ | ÂÛ»ù¤Î»þ¤ÏÇٸƵۤò¤·¤Ê¤¤¤Î¤Ç¿´Â¡¤ËÌá¤ë·ì±Õ¤òÇÙ¤ËÁ÷¤é¤Ê¤¤¤¿¤á¡¢Ä¾ÀÜÇÙÆ°Ì®¤ÈÂçÆ°Ì®¤¬Æ°Ì®´É(¥Ü¥¿¥í¡¼´É)¤ÇÏ¢·ë¤µ¤ì¤Æ¤¤¤ë¡£Ä̾ï¤Ï½ÐÀ¸¸åÇٸƵۤò»Ï¤áÂÎÆâ¤Î»ÀÁÇÇ»ÅÙ¤¬¤¢¤¬¤ë¤³¤È¤Ç¡¢»ÀÁÇÇ»Å٤ؤδ¶¼õÀ¤¬¶¯¤¤Æ°Ì®´É¤Ï¿ô»þ´ÖÆâ¤Ë¼«Á³¤ËÊĺ¿¤¹¤ë¡£¥ª¥¹¤è¤ê¥á¥¹¤Îȯ¾ÉΨ¤¬¹â¤¤¡£Áá´ü»àË´¤â¤è¤¯¤¢¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¿ |
542 |
Patent ductus arteriosus and pulmonary hypertension Æ°Ì®´É³«Â¸µÚ¤ÓÇÙ¹â·ì°µ¾É |
º¸¿´¼¼ÈîÂç¡¢³±¡¢Â®Ì®¡¢¥Á¥¢¥Î¡¼¥¼ | ÇÙÆ°Ì®°µ¤Î°Û¾ï¤Ê¾å¾º¤Ë¤è¤ë¡£Æ°Ì®´É³«Â¸¤Ë¤è¤êÇÙÆ°Ì®¤Ï±¦¿´¼¼¤ÈÂçÆ°Ì®¤«¤é¤Î·ìή¤ò¼õ¤±Ç٤ؤηìήÎ̤¬Áý¤¨ÇÙÆ°Ì®³ÈÄ¥¤È¤Ê¤ë(³ÈÄ¥¤¹¤ë¤È°µÎϤ¬¹â¤Þ¤ë¤¬ºÇÄã·ì°µ¤Ï²¼¤¬¤ë)¡£Æ°Ì®´É¤«¤éÇÙÆ°Ì®¤Ëή¤ì¤ë¤Î¤Ç¤è¤ê¿¤¯¤Î·ì±Õ¤ò²¡¤·½Ð¤¹º¸¿´¼¼¤ÏÈîÂç¤òµ¯¤³¤¹¡£¼£ÎŤÏÆ°Ì®´É¤Î·ëå§ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | P¥³¡¼¥®¡¼ |
543 |
Patent ductus venosus ÀÅÌ®´É³«Â¸ |
´Î¡¼þÊդξ㳲 | ÀÅÌ®´É¤ÏÂÛ»ù¤Î»þ¤Ë¸ºß¤¹¤ë¡£çÁÂÓÀÅÌ®¤È²¼ÂçÀÅÌ®¤ò¥Ð¥¤¥Ñ¥¹¤·¤ÆÂÛÈפ«¤é¤ÎçÁÂÓÀÅÌ®·ì¤ò²¼ÂçÀÅÌ®¡¢¤µ¤é¤ËÍñ±ß¹¦¤«¤éº¸Ë¼-º¸¼¼-¾å¹ÔÂçÆ°Ì®¤Ø¤ÈÁ÷¤ëÌò³ä¤ò¤·¤Æ¤¤¤ë¡£Ä̾ï½ÐÀ¸¸å¿ôÆü¤ÇÊĺ¿¤¹¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
544 |
Patent urachus Ç¢Ëì´É³«Â¸ |
¤Ø¤½¤«¤é¿åʬ¤¬½Ð¤ë¡¢»ÄÇ¢´¶¤äÊ¢ÉôÄË | ÂÛ»ù´ü¤Ëç¯æù¤Î´Ö¤òÄ̤äƤ¤¤Æ½ÐÀ¸¸å¤ËÊĤ¸¤ëÇ¢Ëì´É¤¬Êĺ¿¤·¤Æ¤¤¤Ê¤¤¡£°ä»ÄÇ¢Ë졣ǿ¤¬¤¿¤Þ¤ë¤³¤È¤ÇÄˤߡ¦È¯Ç®¤¬µ¯¤¤ä¤¹¤¤¡£ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
545 |
Pectinate ligament dysplasia ¶û¾õð×ÂÓ·ÁÀ®ÉÔÁ´ |
ÎÐÆâ¾ã | * | unknown | W¥¹¥× |
546 |
Pelger-Huet anomaly ¥Ú¥ë¥²¥ë¡¦¥Õ¥¨¥Ã¥È³Ë°Û¾ï |
ɵ¤¤Ç¤Ï¤Ê¤¤ | Ìȱֵ¡Ç½¤¬Â»¤Ê¤ï¤ì¤Ê¤¤ÈϰϤǹ¥Ãæµå¤È¹¥»Àµå¤¬³Ë°Û¾ï¤ò¤¤¿¤¹(AD¤â¤¢¤ë)¡£¤³¤Î°Û¾ï¤ò»ý¤Ä¸¤¤Ï¥Ú¥ë¥²¥ë¡¦¥Õ¥¨¥Ã¥È³Ë¤¬Àµ¾ï¤Ê¸¤¤È¤Ï°Û¤Ê¤ëÊýË¡¤Ç·ò¹¯¤òÊݤäƤ¤¤ë | unknown | A¥·¥§¥Ñ¡¢¥Õ¥©¥Ã¥¯¥¹¥Ï¥¦¥ó¥É |
547 |
Pemphigus Å·á×áì |
Ƭ¤È¼ª¤ÎÈéÉæ¤ÎÀ֤ߤÈæÌÓ¡¦¥Ñ¥Ã¥ÉÈî¸ü¡¢Á´¿È¤Î¤É¤³¤Ë¤Ç¤â¿å¤Ö¤¯¤ìÍͤαê¾É(ÌÜ¡¦æêÌ硦紤˽Ф뤳¤È¤â¤¢¤ë)¡¢¸ý¤ÎÃæ¤Ë¤Ç¤¤ì¤Ð¿©Íߤ¬¼º¤ï¤ì¤ë(¸ýÆâ±ê¤Ï¿¤¤)¡¢¥Ë¥³¥ë¥¹¥¡¼Ãû¸õ | ¿Ò¾ïÀÅ·á×á졦¹ÈÈÃÀÅ·á×á졦Áý¿£ÀÅ·á×áì¤È¤â¸À¤¦¡£Àµ¾ïÁÈ¿¥¤ËÂФ¹¤ë°Û¾ï±þÅúÌȱ֥·¥¹¥Æ¥à¤Ë¤è¤Ã¤Æ°ú¤µ¯¤³¤µ¤ì¤ëÈéÉæ¤Ë±Æ¶Á¤òµÚ¤Ü¤¹4¤Ä¤Î¼À´µ¤ÎÊ£¹çÂΡ¢¼«¸ÊÌȱÖÀ¿åá×À¼À´µ¡£ºÇ½é¤ÏɽÈéºÙ˦´Ö¤Î¥»¥á¥ó¥Èʪ¼Á¤¬¿¯¤µ¤ìºÙ˦´Ö¤Î·ë¹ç¤¬¼º¤ï¤ì¤Æ¿åË¢¤¬¤Ç¤¤ë¡£¤ï¤ê¤ÈǯÎð¤ò½Å¤Í¤Æ¤«¤éµ¯¤¤ä¤¹¤¯¿åË¢¤È¸ýÆâ±ê¤¬ÌÜΩ¤Ä¾É¾õ¡£¥¹¥Æ¥í¥¤¥É¡¦ÌȱÖÍÞÀ©ºÞ¤Ê¤É¤Ç¼£ÎŤǤ¤ë¥±¡¼¥¹¤â¤¢¤ë¤¬½Å¾ÉÎã¤Ç¤Ï¤¦¤ÄÉÂÍÍ¡¦¿©Í߸ºÂà¤Ê¤É¤Ç¿ê¼å¤â | ¾ïÀ÷¿§ÂÎÀ¡¢Ã±°ì°äÅÁ»Ò | ¥³¥ê¡¼¡¢G¥·¥§¥Ñ |
548 |
Pentalogy of Fallot ¥Õ¥¡¥í¡¼¸Þħ(¤´¤Á¤ç¤¦)¾É |
¥Á¥¢¥Î¡¼¥¼¡¢Ê¢¿å¡¢¸ÆµÛº¤Æñ¡¢±¿Æ°ÉÔÂÑ |
¥Õ¥¡¥í¡¼»Íħ¾É(¿´¼¼Ãæ³Ö·ç»¡¦ÇÙÆ°Ì®¶¹ºõ¡¦ÂçÆ°Ì®µ³¾è¡¦±¦¿´ÈîÂç¤òȼ¤¦ÀèÅ·À¿´´ñ·Á)¤Ë¿´Ë¼Ãæ³Ö·ç»¤ò¹çÊ» 2013/9NEW |
unknown | ´Ú¹ñ¤ÎSapsaree¸¤ |
549 |
Periodic Fever Syndrome ¼þ´üÀȯǮ¾É¸õ·² |
2¡Á3½µ¤´¤È¤Î¼þ´üŪ¤ÊȯǮ¡¢¾Ã²½´É¤ÎÄ̲á¾ã³²¡¢Äˤߤòȼ¤¦ÀÖ¤¤È¯¿¾¡¢¶ÚÆùÄË¡¢»õÆù¤Î¼ðı |
Genes: HAS2 ºÇ¤â½Å¤¤¹çÊ»¾É¤Ï¥¢¥ß¥í¥¤¥É¡¼¥·¥¹¡£ÊÌ̾²È²À¥·¥ã¡¼¥Ú¥¤Ç®¡¢°äÅÁÀÈéÉæ¥à¥Á¥óÄÀÃå¾É¡£¢¨²È²ÀÃÏÃ泤Ǯ |
AR | C¥·¥ã¡¼¥Ú¥¤ |
550 |
Perosomus elumbis ¶í´´´ñ·ÁÂÎ |
Çعü¤Î¡Ê¤ª¤â¤Ë¡Ë¹ø¤«¤é²¼¤Î½ÅÅ٤δñ·Á | ¹øÄÇ¡¢Àç¹ü¡¢Èø¹ü¤ÎÉôʬŪ¤Þ¤¿¤ÏÁ´ÂÎŪ̵·ÁÀ®¤ª¤è¤Ó¸å»è¤Î¶¯Ä¾¤¬ÆÃħ¤ÇÁ°»è¤ÏÀµ¾ï¤Ê¤³¤È¤â¤¢¤ë¡£ÂÛ»Ò¤ÎÂÎÁ´ÂΤÎÀ®Ä¹¤Ï¤¤ï¤á¤Æ°¤¤ | unknown | ¥×¡¼¥É¥ë |
551 |
Persistence of immature pyruvate kinase and hexokinase isozymes *̤½Ï·¿¥Ô¥ë¥Ó¥ó»À¥¥Ê¡¼¥¼µÚ¤Ó¥Ø¥¥½¥¥Ê¡¼¥¼¤Î¥¢¥¤¥½¥¶¥¤¥à»Äα |
* | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
552 |
persistent hyaloid remnants ¾Ë»ÒÂÎÆ°Ì®°ä»Ä |
¿·À¸»Ò´ü¤«¤éÌܤÎÂù¤ê¡¢ÇòÂù¡¢»ëÎϾ㳲¡¦»ëÎϷ绡¢¾®´ãµå¤òȼ¤¦¤³¤È¤¬Â¿¤¤ |
Âè°ì¼¡¾Ë»ÒÂβá·ÁÀ®°ä»Ä¡£ÂÛ»Ò»þÂå¤ËËÜÍèµÛ¼ý¤µ¤ì¤ë¤Ù¤Âè°ì¼¡¾Ë»ÒÂΤ¬»Ä¸¤··ë¹çÁÈ¿¥¤¬Í¾Ê¬¤Ëºî¤é¤ì¤¿¾õÂÖ¡£
ÇòÆâ¾ã¡¦ÎÐÆâ¾ã¤Ë°Ü¹Ô¤¹¤ë 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 |
553 |
Persistent Mullerian duct syndrome »ÄαÀ¥ß¥å¥é¡¼´É¾É¸õ·² |
¥ª¥¹¤Ç»ÒµÜ¤ÈÍñ´É¤ò»ý¤Ä¡¢ÉÔÇ¥¡¢ÀºÁã¤Î¼ðáç²½(¥»¥ë¥È¥êºÙ˦¼ð) |
Gene: AMHR2 ÊÌ̾¥ß¥å¥é¡¼´É°ä»Ä¡¢¥ß¥å¥é¡¼´É¤Ï½÷ÂÛ»ù¤Î»ÒµÜ¡¦Íñ´É¡¦çµ¤Î¸¶´ð¤ÇÃËÂÛ»ù¤Ç¤Ï¾ÃÌǤ¹¤ë¡£Ãæ¿Õ˵´Éparamesonephric ducts¤È¤â¸Æ¤Ö¡£Áͷ¥إë¥Ë¥¢¤ò¹çÊ»¤·¤Æ¤¤¤ë¤³¤È¤¬Â¿¤¤¡£¥·¥Ã¥Ý¤Î¥µ¥¤¥º¤¬¾®¤µ¤¤?? |
AR | ¥Ð¥»¥Ã¥È¡¢M¥·¥å¥Ê |
554 |
Persistent right aortic arch ±¦ÂçÆ°Ì®µÝ°ä»Ä |
À®Ä¹Ãٱ䡢Á餻¡¢¿©¸å¤ÎÅǽÐ(Î¥Æý¸å)¡¢¿©Æ»³ÈÄ¥¡¢¸íÓëÀÇÙ±ê | ±¦Êý¤ÎÂè»ÍÆ°Ì®µÝ¤¬È¯Ã£¤·¤¿·ë²Ì¤È¤·¤ÆȯÀ¸¤¹¤ë·ì´ÉÎذ۾¿´»¨²»¤¬Ç§¤á¤é¤ì¤¿¤ê̵¾É¾õ¤À¤Ã¤¿¤ê´ñ·Á¤ÎÅٹ礤¤Ë¤è¤Ã¤ÆÍÍ¡¹ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥É¡¼¥Ù¥ë¥Þ¥ó¡¢¥Õ¥©¥Ã¥¯¥¹¥Æ¥ê¥¢¡¢G¥·¥§¥Ñ¡¢¥°¥ì¡¼¥È¥Ç¥ó¡¢I¥»¥Ã¥¿¡¼¡¢¥¤¥¿¥°¥ì |
555 |
Persistent right aortic arch, with subclavian artery and ligamentum arteriosum **º¿¹ü²¼Æ°Ì®¤ÈÆ°Ì®´Éº÷¤òȼ¤¦±¦ÂçÆ°Ì®µÝ°ä»Ä |
* | *¥Ò¥È¤ÎDiGeorge¾É¸õ·²(Éû¹Ã¾õÁ£¡¦¶»Á£Ìµ·ÁÀ®¾É) | ¾ïÀ÷¿§ÂÎÀ¡¢Ã±°ì¤Ç¤Ï¤Ê¤¤ | G¥Ô¥ó¥·¥ã¡¼ |
556 |
Persistent truncus arteriosus ÁíÆ°Ì®´´°ä»Ä |
¿¸ÆµÛ¡¢Ó®ÆýÎÏÄã²¼¡¢È¯°éÉÔÎÉ¡¢°×´¶À÷À(¸ÆµÛ´ï)¡¢»Í»è¤ÎÀè¤Î®̮¡¢¤¦¤Ã·ìÀ¿´ÉÔÁ´ | ÂÛ»ù´ü¤ÎÆ°Ì®¤Ï1ËܤÀ¤¬¼¡Âè¤ËÊɤ¬½ÐÍè¤ÆÂçÆ°Ì®¤ÈÇÙÆ°Ì®¤Ëʬ¤«¤ì¤ÆÀ¸¤Þ¤ì¤ë»ÅÁȤߤˤʤäƤ¤¤ë¤¬¡¢ÂçÆ°Ì®¤ÈÇÙÆ°Ì®¤¬Ê¬Î¥¤»¤º¿´Â¡¤«¤é1¤Ä¤ÎÂç·ì´É¤¬½Ð¤ë¾õÂÖ¡£Æ°Ì®´´Ãæ³Ö¤È±ß¿íÉôÃæ³Ö¤Î·ÁÀ®ÉÔÁ´¤¬¸¶°ø¤È¹Í¤¨¤é¤ì¤Æ¤¤¤ë¡£Áá´ü»àË´¤¬ÂçȾ¤À¤¬Ãæ¤Ë¤Ï̵¾É¾õ¤ÇÏ·¸¤¤Ë¤Ê¤Ã¤Æ¤«¤é¿ÇÃǤµ¤ì¤ë¤³¤È¤â¤¢¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
557 |
Photoreceptor dysplasia ¸÷¼õÍÆÂηÁÀ®ÉÔÁ´ |
ÌÖËì¤Î·ì´É¤¬Çö¤¯¤Ê¤ë¤³¤È¤Ë¤è¤ë»ëÎϾ㳲¡¢ÌëÌÕ |
Genes:PDC ÊÌ̾¿Ê¹ÔÀÛ¸ÂοíÂÎÊÑÀ¡¢ÌÖË쿧ÁÇÊÑÀ¾É¡£¸÷¼õÍÆÂΤȤϤª¤â¤Ë»ëºÙ˦¤ò»Ø¤¹¡£Ä̾ïÀ¸¸å12½µ°ÊÁ°¤Ëȯ¾É¤¹¤ë¡£PRA»²¾È |
AR | M¥·¥å¥Ê |
558 |
Platelet delta-storage pool disease *·ì¾®Èĥǥ륿Ãù¢¥×¡¼¥ëÉ |
* |
***storage pool deficiency ¤Ï¾®»ùËýÀ·ì¾®ÈļÀ´µ ·ì¾®Èĵ¡Ç½Äã²¼¤Ë¤è¤ë½Ð·ì·¹¸þ¤È´ã¤äÈéÉæ¤Î¿§ÁÇ漺¤È¹ü¿ñ¤Ø¤Î¿§ÁÇÄÀÃ夬¼ç¾É¾õ¤Î¥Ø¥ë¥Þ¥ó¥¹¥¡¼-¥×¥É¥é¥Ã¥¯Hermanskt-Pudlak¾É¸õ·²(¥¢¥ë¥Ó¥Î¤Î°ì·²)¤Î¡¢Çò²½¥Ê¥·¤¬1979ǯ¥×¥¨¥ë¥È¥ê¥³¿Í¤Ë¸«¤é¤ì¤¿ |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ϵí¤Ç¤è¤¯¸¦µæ¤µ¤ì¤Æ¤¤¤ë |
Platelet receptor for factor X, deficiency of *·ì¾®ÈļõÍÆÂΡ¡Âè¾°ø»Ò·ç»???¤¢¤¿¤ê¡¦¡¦ |
Íýͳ¤Î¤Ê¤¤É¡·ì¡¢Á°Ë¼½Ð·ì(ÌܤÎÃæ)¡¢¶ÚÆùÆâ·ì¼ð¡¢¼ê½Ñ¸å¤¢¤¶¤òȼ¤Ã¤¿Ä¹´ü¤Î½Ð·ì | ***platelet-derived growth factor receptor ¤Ï·ì¾®ÈÄͳÍèÁý¿£°ø»Ò¼õÍÆÂΡ£ÊÌ̾Canine Scott syndrome¥¤¥Ì¥¹¥³¥Ã¥È¾É¸õ·²¡¢Âè¾·ì±Õ¶Å¸Ç°ø»Ò¤ä¥È¥í¥ó¥Ó¥ó¤¬³èÀ²½¤µ¤ì¤º·ì±Õ¶Å¸Ç¤¬¸úΨ¤è¤¯¿Ê¤Þ¤Ê¤¤(Âè¾°ø»Ò(¥¹¥Á¥å¥¢¡¼¥È-¥×¥é¥¦¥¢°ø»Ò)¤Ï´Î¡¤ÇÀ¸À®¤µ¤ì»ß·ì¤ÎºÝ¤ËÂ礤¯Æ¯¤¯¤â¤Î¤Î¤Ò¤È¤Ä) | AR | * | |
559 |
Pneumonia, aspiration ¸íÓëÀÇÙ±ê |
¡ö | ¡ö | unknown | I¥¦¥ë¥Õ¥Ï¥¦¥ó¥É |
560 |
Pneumothorax µ¤¶» |
¶»Éô¤ÎÄˤߡ¢Â©¤òµÛ¤¤¤Ë¤¯¤¤¤¿¤á¸ý¤òÂ礤¯³«¤±¤ë¡¢¸ÆµÛº¤Æñ¡¢¶»¤Î°Û¾ï¤Ê¤Õ¤¯¤é¤ß(¸ÆµÛ²»¤Ê¤·) | ³°½ý̵¤¯¶»¹ÐÆâ¤Ëµ¤ÂÎÃùα¤¹¤ëÇ٤γÈÄ¥¾ã³²¡¢µ¤¼ðÀÇÙǹ˦¤ä¼ðáç¤ò»ý¤Ã¤Æ¤¤¤ë¤³¤È¤â¿¤¤ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ï¥¹¥¡¼¡¢¥é¥Ö |
561 |
Polioencephalomyelopathy *³¥ÇòǾÀÔ¿ñ¾ã³² |
¤±¤¤¤ì¤óȯºî¡¢»Í»è¤Î¤³¤ï¤Ð¤ê¡¢¿Ê¹ÔÀ±¿Æ°¼ºÄ´¡¢Á°»è¤ÎæÎÏ¡¢Î¾´ãµå¤Î´ã¿Ì | ³¥Çò¼Á¤Ë±Æ¶Á¤òÍ¿¤¨¤ëÊÑÀ¼À´µ¡¢³¥ÇòǾÀÔ¿ñ±ê¡£ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | A¥¥ã¥È¥ë¥É¥Ã¥°¡¢¥·¡¼¥º¡¼ |
562 |
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 |
563 |
Polycystic kidney disease ¿ȯÀǹ˦¿Õ |
¸ýÆâ±ê¡¢Â¾¤ËÍýͳ¤Î¤Ê¤¤¸ý½¡¢ÇÓÇ¢°Û¾ï¡¢¿©Í߸ºÂà¡¢ÂνŸº¾¯¡¢Ç¢Ï©¼À´µÃû¸õ(¿ÇÃÇ)¡¢¿ÕÉÔÁ´ |
Gene: PKD1 ÊÒÊý¤Þ¤¿¤ÏξÊý¤Î¿Õ¡Æâ¤ËÊ£¿ô¤Îǹ˦¤äÉÂÊѤΤ¢¤ë¾õÂÖ¡£´Î¡¤äç¹Â¡¤Ëǹ˦¤¬¸«¤é¤ì¤ë¤³¤È¤â¤¢¤ê¿Õ¡¤Îǹ˦¤Ï¿¨¿Ç¤Ç¤ï¤«¤ë¤³¤È¤â |
AD | ¥¦¥¨¥¹¥Æ¥£¡¢¥³¥ê¡¼¡¢¥±¥¢¥ó¥Æ¥ê¥¢¡¢¥Ö¥ë¥Æ¥ê¥¢¡¢Ç¡¢ÇÏ¡¢ÍÓ |
564 |
Polycystic monophrosis *¿ȯÀǹ˦Àñ¥Í¥Õ¥í¡¼¥¼?? |
¿Ǣ¡¢¸µµ¤¾ÃÄÀ¡¢¿©Í߸ºÂà¡¢¿Õ¡¤Î±ê¾É¡¢Ç¹Ë¦¤ÎÇËÎö¡¢¿Õµ¡Ç½Äã²¼ | ǹ˦¤ÎÇËÎö¤¬µ¯¤¤ë¤È·ã¤·¤¤Äˤߡ¢Î®Âν¼Å¶Ç¹¤¬¿Õ¡¤Ç·ÁÀ®¤µ¤ìÁá´ü(1¡Á2ºÐ)»àË´¡£Ã±°ì¿Õ?? | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
565 |
Polycythemia ÀÖ·ìµåÁý²Ã¾É |
ÈéÉæ¤ÎÀ֤ߡ¢Á´¿È¤Î¤«¤æ¤ß¡¢Ç´Ëì¤Î½¼·ì(¥Ò¥È¤Ç¤ÏƬÄˤ伪ÌĤê¤Ê¤É¤â)¡¢¾É¾õ¤¬¿Ê¤à¤È·ì´É¤¬µÍ¤Þ¤ê¤ä¤¹¤¯¤Ê¤ë¡¦Äã»ÀÁǾõÂÖ¤Ê¤É |
Genes: JAK2 ¿·ì¾É¡£Ìµµ¤ÎϤˤʤ俤걿ư¤ò¤·¤¿¤¬¤é¤Ê¤«¤Ã¤¿¤ê¿°û¿Ǣ¾É¾õ¤ä¤±¤¤¤ì¤óȯºî¤â¤¢¤ë¡£¿¿À¡Ê¸¶È¯À¡Ë¤ÈÆó¼¡À¡Ê¼ðáç¤ä¾¤Î·ì±Õ¤Îɵ¤¡Ë¡£·èÄêŪ¤Ç¸ú²ÌŪ¤Ê¼£ÎÅË¡¤Î1¤Ä¤¬21À¤µª¤Î¸½ºß¤Ç¤â¡Öß÷ì¡×¡£ https://www.jstage.jst.go.jp/article/dobutsurinshoigaku/10/1/10_1_19/_pdf¡¡J-Stage2000ǯ²¬»³¸©6ºÐ¥á¥¹¥´¡¼¥ë¥Ç¥ó¡Ö¿¿ÀÀÖ·ìµåÁý²Ã¾É¤Î¸¤¤Î1Îã¡× |
AD,AR | ¥ì¥ª¥ó |
566 |
Polydactyly ¿»Ø(ìæ)¾É |
6ËÜÌܤÎϵÄÞ | ÊÌ̾Double Dewclaws | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ô¥ì¥Í¡¼¥º¡¢Â¿¤¯¤Î²ÈÃÜưʪ |
567 |
Polyglandular autoimmune syndrome, type II ¿Á£À¼«¸ÊÌȱ־ɸõ·²2·¿ |
Ê£¿ô²Õ½ê¤ÎÆâʬÈçÁ£µ¡Ç½¤ÎƱ»þÄã²¼¡¢ÇòÈá¢Ã¦ÌÓ¡¢°ÀÉÏ·ì¡¢½Å¾É¶Ú̵ÎÏ¾É | ¶·¿¤Ï¥·¥å¥ß¥Ã¥È¾É¸õ·²¡£¿Õ¡¡¢¹Ã¾õÁ£¡¢Éû¿Õ¤ª¤è¤Óç¹Â¡¤ò¼«¸Ê¹¶·â¤¹¤ëÌȱַϤμÀ´µ¤Ç¿ÕÉÔÁ´¡¦¹Ã¾õÁ£µ¡Ç½Äã²¼¾É¡¦Éû¿ÕÈé¼Áµ¡Ç½Äã²¼¾É¡¦ÅüǢɤʤɤ¬Ê£¿ô¸½¤ì¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥ì¥ª¥ó |
568 |
Polymelia ¿»è¾É |
¸å»è¤¬4Ëܤº¤Ä¹ç·×8Ëܤ¢¤ë¾õÂ֤ʤɡ¢Â¿Â | ËÜ¿ô¤Ï¶ö¿ô¤Ë¤Ê¤ë¤è¤¦¤À | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | µí¤ä¼¯¤Ê¤É |
569 |
Polymicrogyria and asymmetrical ventricular dilation *¿¾®Ç¾²ó¤ÈÈóÂоÎÀ¤Î¿´¼¼³ÈÄ¥(¿´¼¼Ãæ³ÖÈî¸ü¡©) |
¼ºÌÀ¡¢¤±¤¤¤ì¤óȯºî¡¢Êâ¹Ô°Û¾ï | Ǿ¤ÎÂçǾÈé¼Á¡Ê´¶³Ð¡¢¿ï°Õ±¿Æ°¡¢»×¹Í¤äµ²±¤ò¤Ä¤«¤µ¤É¤ëǾ¤ÎÎΰè¡Ë¤Î°Û¾ï¡£³êǾ¾É¤Î°ì¼ï¡£Ç¾²ó¤È¤ÏÂçǾÈé¼Á¤ÎɽÌ̤ˤ¢¤ëǾ¤Î¹Â¤È¹Â¤Î´Ö¤Î»³¡¢Ç¾¤Î¥·¥ï¤Îδµ¯¤·¤¿Éôʬ¡£Â¿¾®Ç¾²ó¤ÏÀµ¾ï¤Ê¤â¤Î¤è¤êǾ²ó¤¬¾®¤µ¤¯¿ô¤¬Â¿¤¤¤â¤Î¡£ventricular dilation¤Ï¿´¼¼³ÈÄ¥¤À¤¬Asymmetric Septal HypertrophyÈóÂоÎÀ¿´¼¼Ãæ³ÖÈîÂ硣ʡ»³·¿ÀèÅ·À¶Ú¥¸¥¹¥È¥í¥Õ¥£(ÀèÅ·ÀAR)¤Ç¤³¤ÎξÊý¤Î¾É¾õ¤¬¸«¤é¤ì¤ëÎã¤â¤¢¤ë(¶É½êÀ¤Î¿¾®Ç¾²ó)¡£ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥×¡¼¥É¥ë |
570 |
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 |
571 |
Polyneuropathy, NDRG1-related NDRG1´ØÏ¢·¿¡¡Â¿È¯À¿À·Ð±ê |
»Í»è¤ÎæÎÏ¡¢»Í»èÀèü¤«¤éáã¤ì¡¢¶ÚÎÏÄã²¼(¿©Æ»³ÈÄ¥¤Ë¤è¤ë³±¡¦¿©¸å¤ÎÓÒÅÇ¡¦¿©Êª¤ÎµÕή)¡¢ |
Genes: NDRG1 ¿ȯÀ¥Ë¥å¡¼¥í¥Ñ¥Á¡¼¡£Ä¹´ü¤ËÅϤ갲½¤¹¤ëËö¾¿¿À·Ð¾ã³²¤Ë¤è¤ë±¿Æ°´¶³Ð¤ª¤è¤Ó¼«Î§¿À·Ð¾ã³²¡¢2¡Á6¥ö·î¤Î´Ö¤ËºÇ½é¤ÎÃû¸õ¤¬¸«¤é¤ì¤ë¤¬4ºÐ¤Ç¿ÇÃǤµ¤ì¤ëÎã¤â¤¢¤ë¡£áã¤ì¤ëÁ°¸å»è¤ÎÀè¤ÏÄ̾ï¤ÎÄˤߤ¬»Ä¤ë |
AR | ¥Þ¥é¥ß¥å¡¼¥È¡¢¥°¥ì¥¤¥Ï¥¦¥ó¥É |
572 |
Polyneuropathy, ARHGEF10-related ARHGEF10´ØÏ¢·¿¡¡Â¿È¯À¿À·Ð±ê |
Êâ¹Ô°Û¾ï¡¢¶ÚÆù¡¦¹üÈס¦»Í»è¤Î°Ñ½Ì |
Genes: NDRG1 ¥·¥ã¥ë¥³¡¼¡¦¥Þ¥ê¡¼¡¦¥È¥¥¡¼¥¹É¡£±¿Æ°ÉÔÂÑÀ¡¢Êâ¹Ô°Û¾ï¡¢¹üÈס¦¼ê¤ζÚÆù¤Î°à½Ì¡¢µÛµ¤ÀÓÃÌĤä¸ÆµÛº¤Æñ¤òÆÃħ¤È¤¹¤ë½ÅÅ٤μãǯȯ¾É¡¢ËýÀ¡¢¿Ê¹ÔÀ¤ª¤è¤Óº®¹ç¿ȯÀ¿À·Ð¾ã³² |
¤¿¤Ö¤óAR | ¥ì¥ª¥ó¡¢¥»¥ó¥È¥Ð¡¼¥Ê¡¼¥É |
573 |
Polyneuropathy, distal sensorimotor *´¶³Ð±¿Æ°À±ó°ÌÀ¿ȯ¥Ë¥å¡¼¥í¥Ñ¥Á¡¼ |
Ç˹ԡ¢¤¦¤µ¤®Ä·¤ÓÊâ¹Ô¡¢¥¸¥ã¥ó¥×¤·¤¿¸å¿¿¤Ãľ¤°Î©¤Ã¤Æ¤¤¤é¤ì¤Ê¤¤¡¢Î¾¸å»è¢ªÁ°»è¤Î½ç¤ÇËãáã | ¿À·ÐÀþ°Ý¤Î¾Ã¼º¡¢¿À·ÐºÙ˦¤Î»à¡¢¿À·Ð¼þ°Ï»éËÃ¥³¡¼¥Æ¥£¥ó¥°¤Î»¼º¤ÇĹ»þ´Ö¤«¤±¤Æ¶ÚÆù¤¬¾ÃÌפµ¤ì¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥°¥ì¡¼¥È¥Ç¥ó¡¢¥í¥Ã¥È¡¢¥Þ¥é¥ß¥å¡¼¥È |
574 |
Polyneuropathy, generic ¿ȯÀ¿À·Ð±ê |
»Í»è¤ÎæÎÏ¡¢»Í»èÀèü¤«¤éáã¤ì¡¢¶ÚÎÏÄã²¼(¿©Æ»³ÈÄ¥¤Ë¤è¤ë³±¡¦¿©¸å¤ÎÓÒÅÇ¡¦¿©Êª¤ÎµÕή)¡¢ | ¿ȯÀ¥Ë¥å¡¼¥í¥Ñ¥Á¡¼ | AR | * |
575 |
Polyneuropathy, GJA9-related GJA9´ØÏ¢·¿¡¡Â¿È¯À¿À·Ð±ê |
»Í»è¤ÎæÎÏ¡¢»Í»èÀèü¤«¤éáã¤ì¡¢¶ÚÎÏÄã²¼(¿©Æ»³ÈÄ¥¤Ë¤è¤ë³±¡¦¿©¸å¤ÎÓÒÅÇ¡¦¿©Êª¤ÎµÕή)¡¢ |
Gene: GJA9 ¿ȯÀ¥Ë¥å¡¼¥í¥Ñ¥Á¡¼ °äÅÁ·Á¼°¤Ï¾ïÀ÷¿§ÂÎÉÔ´°Á´¸²À¡ÊÍ¥À¡ËAutosomal Incompletely Dominant |
AID | * |
576 |
Polyneuropathy, RAB3GAP1-related RAB3GAP1´ØÏ¢·¿¡¡Â¿È¯À¿À·Ð±ê |
¼Ð»ë¡¢ÇòÆâ¾ã¡¢¾®´ãµå¾É¡¦¾®Æ·¹¦¡¦¾®¿å¾½ÂΡ¢¿Ê¹ÔÀ¤Î½ÅÅ٤α¿Æ°¼ºÄ´¡¢°öƬËãáã¡¢ÊÑÀ¼¡¢ |
Gene: RAB3GAP1 Polyneuropathy, ocular abnormalities and neuronal vacuolation*»ë³Ð°Û¾ï¤òȼ¤¦¿À·ÐºÙ˦¶õˤÊÑÀ¿ȯ¥Ë¥å¡¼¥í¥Ñ¥Á¡¼¤«¤éÉÂ̾Êѹ¹ À¸¸å3¡Á6¥ö·îº¢¤«¤é¾É¾õ¤¬¤Ï¤Ã¤¤ê¤¹¤ë¡£Ä̾ï2ºÐº¢¤Þ¤Ç¤Ë°Â³Ú»¦ÂÐ¾Ý |
AR | ¥í¥Ã¥È¡¢¥Ï¥¹¥¡¼¡¢¥Ö¥é¥Ã¥¯¥í¥·¥¢¥ó¥Æ¥ê¥¢ |
577 |
Polysaccharide storage myopathy/Rhabdomyolysis ¿ÅüÎàÃù¢¶Ú¾É/²£Ìæ¶ÚÍ»²ò¾É |
¤È¤¯¤Ë±¿Æ°³«»Ï¸å(Æ°¤»Ï¤á)¤ÎÇØÃ椫¤é¸å»è¤Î¶ÚÆù¤Î¼ð¤ì¡¦Äˤߡ¦¤³¤ï¤Ð¤ê¡¢Êâ¹Ôº¤Æñ¡¢·ìÇ¢(¥ß¥ª¥°¥í¥Ó¥óÇ¢) | ¶ÚÆùÆâ¤ËÅü¤¬ÃßÀѤµ¤ì¤ë¡£¿©ÍßÉÔ¿¶¡¢Ã¦¿å¡¢Ã¦ÎÏ´¶¡¢ÍÞ¤¦¤Ä¡¢¸ÆµÛº¤Æñ¡¢ÓÒÅǤòȼ¤¦½ÅÅ٤οÕÉÔÁ´¤ò°ú¤µ¯¤³¤¹¤³¤È¤â¤¢¤ë¤¿¤á¿Õ¡É¤ȸí¿Ç¤µ¤ì¤ë¥±¡¼¥¹¤¬Â¿¤¤¤À¤í¤¦¡£²£Ìæ¶ÚÍ»²ò¾É¤Ï¥Ð¥Ù¥·¥¢¾É¤Î¹çÊ»¤È¤·¤Æ¤âµ¯¤³¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥°¥ì¥¤¥Ï¥¦¥ó¥É¡¢ÇÏ |
578 |
Polyuria ¿Ǣ |
* | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
579 |
Portal vein hypoplasia, congenital ÀèÅ·ÀÌçÌ®·ÁÀ®ÉÔÁ´ |
Ê¢Éô¤ÎËĤ졢ʢ¿å¡¢ÉÏÌÓ¡¢Â¿°û¿Ǣ¡¢ç£¼ð¡¢¿ÕÈîÂç¡¢¾®¤Ö¤ê¡¢¾®´Î¡¢Ç¢·ë¾½¡¢ÉÏ·ì¡¢¿©Æ»¡¦°ß¤ËÀÅÌ®áî(ÅǷ졦²¼·ì) | ´Î³°ÌçÌ®Êĺɾɡ£ÌçÌ®¤È¤Ïξü¤¬ÌÓºÙ·ì´É¤Ë½ª¤ï¤ë·ì´É¤Î¤³¤È¤Ç¤³¤³¤Ç¤Ï¾®Ä²¤«¤é¤Î±ÉÍÜʬ¤ò¿¤¯´Þ¤ó¤À·ì±Õ¤ò´Î¡¤Ë±¿¤ÖÀÅÌ®¤Î¤³¤È¡£ÌçÌ®¤¬Àµ¾ï¤Êή¤ì¤Ç¤Ê¤¤¤¿¤áÌçÌ®°µ¤¬Ð¶¿Ê¤·Ê¢¿å¤Ê¤É¤Î¾É¾õ¤¬4¥ö·î¡Á2ºÐ°Ì¤Î´Ö¤Ë½Ð¤ë¡£´Î¡¤Îµ¡Ç½¤¬Äã²¼¤¹¤ë¤¿¤áËã¿ì¤¬Æñ¤·¤¯¤Ê¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
580 |
Portosystemic shunt ÌçÌ®Âν۴ĥ·¥ã¥ó¥È |
ȯãÃٱ䡢ÂνŸº¾¯¡¢ÓÒÅÇ¡¦²¼Î¡¡¦Â¿°û¡¦¿©ÍßÉÔ¿¶¡¢Ç¢·ëÀС¢¹â¥¢¥ó¥â¥Ë¥¢·ì¾É¤Ë¤è¤ë°Û¾ï¹ÔÆ°¡¦¤Æ¤ó¤«¤óÍÍȯºî¤Ê¤É¤Î¿À·Ð¾ã³² | ÌçÌ®¤ÈÂçÀÅÌ®¤Î´Ö¤Ë¤Ç¤¤¿Ã»Íí(¡á¥·¥ã¥ó¥È)¡£Ã»Íí¤ÏÌçÌ®¡Ý¸åÂçÀÅ̮ûÍí¡¢ÌçÌ®¡Ý´ñÀÅ̮ûÍí¡¢ÀÅÌ®´É³«Â¸¤Î3¼ïÎà¡£ÌçÌ®¤«¤é´Î¡¤Ø¤Î·ì±Õ¤¬¸º¾¯¤·¤¿¤êÂڤ俤ꤹ¤ë¤¿¤áËÜÍè´Î¡¤Ç½èÍý¤µ¤ì¤ë¤Ù¤Í³²Êª¼Á¤¬Âν۴ĤËήÆþ¤¹¤ë¤³¤È¤Ç¾ã³²¤¬µ¯¤¤ë¡£ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥è¡¼¥¡¼¡¢¥ß¥Ë¥·¥å¥Ê¡¢¥Þ¥ë¡¢¥´¥ë¡¢¥Ð¥Ë¾¿¼ï |
581 |
Prekallikrein deficiency ¥×¥ì¥«¥ê¥¯¥ì¥¤¥ó·ç˳¾É |
»ß·ì¤¬ÃÙ¤¤¡¢Æâ½Ð·ì¡¢Àֳ쿧Ǣ¡¢¥¿¡¼¥ëÊØ |
Genes: KLKB1 Æâ½Ð·ì¤Î¤Û¤«²¼Î¡¤äÂνŸº¾¯¤Ê¤É½Ð·ìÀ¼À´µ¤Îŵ·¿Åª¤Ê¾É¾õ¤Ï½Ð¤ë¤¬½Ð·ì¾É¾õ¤¬¤¢¤Þ¤ê¤Ò¤É¤¯¤Ê¤¤·ì±Õ¼À´µ¡£APTT±äĹ(·ì¤¬¸Ç¤Þ¤ë»þ´Ö¤òÄ´¤Ù¤ë¸¡ºº)¤¬ÃøÌÀ¡£»³¸ýÂç³ØÇÀ³ØÉô½Ã°å³Ø²Ê¤Ç¸¦µæ¤¢¤ê¡£¥Õ¥ì¥Ã¥Á¥ã¡¼°ø»Ò·ç˳¾É¤È¹çÊ»¤â |
AR | C¥·¥ã¡¼¥Ú¥¤ |
582 |
Priapism »ý³ÀËÖµ¯¾É |
Äˤߤòȼ¤¦ËÖµ¯¤¬Â³¤¯¾õÂÖ | ȯ¾ð»É·ã¤¬Ìµ¤¯4»þ´Ö°Ê¾åËÖµ¯¤·¤¿¾õÂÖ¡£±¢·ÔÆ°Ì®¤¬±¢·Ô¤Î³¤ÌÊÂÎÆâ¤ËÇˤì¤ÆÂçÎ̤ηì±Õ¤¬±¢·ÔÆâ¤ËήÆþ¡¢±¢·ÔÀÅÌ®¤¬¤Õ¤µ¤¬¤ë¤Ê¤É¤Çµ¯¤¤ë¡£È¾Â¦ÄǵÝÀÚ½ü½Ñ¤ä¿ñËìÀÔ¿ñáî¤Ë³ȯ¤¹¤ë¥±¡¼¥¹¤â¤¢¤ë¡£²ñ±¢ÉôÂÇËС¦³°½ý¤ä·ì±Õ¤Îɵ¤¤äÅüǢɤ¬¸¶°ø¤È¤Ê¤ë¤³¤È¤â¤¢¤ë¤¬Èóµõ·ìÀ»ý³ËÖµ¯¾É¤Î¤è¤¦¤À | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
583 |
Primary hyperoxaluria type I (Oxalosis I) ¸¶È¯À¥·¥å¥¦»ÀÇ¢I·¿(¥·¥å¥¦»À¾ÉI) |
²á¥·¥å¥¦»ÀÇ¢¾É¡¢¿ÕǢϩ·ëÀС¢¿ÕÀг¥²½¡¢¿Ê¹ÔÀ¿Õµ¡Ç½¾ã³²¤«¤éËýÀ¿ÕÉÔÁ´¡¢Á´¿È¤Ø¤Î¥·¥å¥¦»À¥«¥ë¥·¥¦¥à¤ÎÄÀÃå(¥ª¥¥µ¥í¡¼¥·¥¹) |
Gene: AGXT ¥·¥å¥¦»À¤Î²á¾ê»ºÀ¸¡£¥Ò¥È¤Ç¤Ï´Î¿ÕÊ£¹ç°Ü¿¢¤ÎŬ±þÎã¤Ë¤â¤Ê¤ë 2012ǯÄɲà |
AR | ¥Á¥Ù¥¿¥ó¥¹¥Ñ¥Ë¥¨¥ë¡¢¥³¥È¥ó¥Ç¥Ä¥ì¥¢¥ë |
584 |
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) | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | A¥³¥Ã¥«¡¼¡¢¥¥ã¥È¥ë¥É¥Ã¥°¡¢¥¯¥é¥ó¥Ð¡¼¡¢E¥¹¥×¥ê¥ó¥¬¡¼¡¢¥Ó¥º¥é¡¢¥ì¥¤¥¯¥é¥ó¥É¥Æ¥ê¥¢¡¢¥ï¥¤¥Þ |
585 |
Progressive axonopathy *¿Ê¹ÔÀ¼´º÷¾ã³² |
ǾÀÔ¿ñ¤Î¼ð¤ì¤Ë¤è¤ë¸å»è¤Î¥Ð¥é¥ó¥¹´¶³Ð¤ÎÁÓ¼º | ÊÌ̾¥Ü¥¯¥µ¡¼¥Ë¥å¡¼¥í¥Ñ¥Á¡¼¡¦¥Ü¥¯¥µ¡¼Ãæ±ûËö¾¿¿À·Ð¾ã³²¡£À¸¸å1¡Á6¥ö·î¤Þ¤Ç¤Ë¤Ï¾É¾õ¤¬½Ð¤ë¡¢¸å»è¤Î̵¶¨Ä´¤ÏÁ°»è¤Ø¿Ê¹Ô¡¢À¸Ì¿¤ËÊ̾ò¤Î̵¤¤¥±¡¼¥¹¤¬Â¿¤¤¡£¼´º÷(¤¸¤¯¤µ¤¯)¤È¤Ï ¿À·ÐºÙ˦Æ͵¯¤Î¤¦¤Á¤ÎºÇ¤âŤ¤Æ͵¯¤Ç¡¢Â¾¤Î¿À·ÐºÙ˦¤È¤Î¥¤¥ó¥Ñ¥ë¥¹¤ÎÅÁƳ¤ò¹Ô¤¦Éôʬ¡¢¿À·ÐºÙ˦(½ÐÎϤòôÅö¤¹¤ë)¡£ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ü¥¯¥µ¡¼ |
586 |
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 | ¿ |
587 |
Progressive retinal atrophy, Basenji ¥Ð¥»¥ó¥¸¡¼¤Î¿Ê¹ÔÀÌÖËì°à½Ì¾É |
* |
Gene: SAG * 2013/9NEW |
AR | ¥Ð¥»¥ó¥¸¡¼ |
588 |
Progressive retinal atrophy, due to CNGA1 mutations ¿Ê¹ÔÀÌÖËì°à½Ì¾É¡¡CNGA1ÊÑ°Û·¿ |
* |
Gene:FAM161A * |
AR | ¥·¥§¥ë¥Æ¥£¡¼ |
589 |
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 |
590 |
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¤¬ÆÍÁ³ÊÑ°Û¡¢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¥¢ |
591 |
Progressive retinal atrophy, Whippet ¥¦¥¤¥Ú¥Ã¥È¤Î¿Ê¹ÔÀÌÖËì°à½Ì¾É |
* | * | AR | ¥¦¥¤¥Ú¥Ã¥È |
592 |
Progressive retinal atrophy, X-linked, 1 ÀÀ÷¿§À¿Ê¹ÔÀÌÖËì°à½Ì¾É1·¿ |
»²¾È;¿Ê¹ÔÀÌÖËì°à½Ì¾É | * | X-Linked | * |
593 |
Progressive retinal atrophy, X-linked, 2 ÀÀ÷¿§À¿Ê¹ÔÀÌÖËì°à½Ì¾É2·¿ |
»²¾È;¿Ê¹ÔÀÌÖËì°à½Ì¾É | * | X-Linked | * |
594 |
Progressive retinal atrophy, X-linked, 3 ÀÀ÷¿§À¿Ê¹ÔÀÌÖËì°à½Ì¾É3·¿ |
»²¾È;¿Ê¹ÔÀÌÖËì°à½Ì¾É | * | X-Linked | * |
595 |
Progressive rod-cone degeneration ¿Ê¹ÔÀÛ¸ÂοíÂÎÊÑÀ¾É |
»ëÎϾ㳲 |
Gene: PRCD Û¸ÂΤ¬¿íÂΤËÀè¹Ô¤·¤Æ¾ã³²¤µ¤ì¤ë¤Î¤¬Û¸ÂοíÂÎÊÑÀ¾É(ÂåɽŪ¤Ê¤â¤Î¤ÏÌÖË쿧ÁÇÊÑÀ¾É) |
AR | ¥´¥ë¡¢¥é¥Ö¡¢¥è¡¼¥¡¼¤Ê¤É¿¿ô |
596 |
Protein-losing enteropathy ÃÁÇòÁÓ¼ºÀ°ßIJ¾É |
Ĺ´ü¡¦½ÅÅ٤οåÍͲ¼Î¡¡¢¿©ÍßÉÔ¿¶¡¢ÂνŸº¾¯ | ·ì±ÕÃæ¤Î¥¿¥ó¥Ñ¥¯¼Á¤Î»ºÀ¸Äã²¼¤äÁÓ¼ºÎ̤ÎÁý²Ã¤Ê¤É¤Ë¤è¤Ã¤Æ¥ê¥ó¥Ñ´É¾ã³²¤¬µ¯¤¡¢¥ê¥ó¥Ñ´É³ÈÄ¥¾É¤Ê¤É¤Ê¤ó¤é¤«¤Î¸¶°ø¤Ë¤è¤Ã¤Æ¾Ã²½´ÉÆâ¤Ë·ìÞù¥¿¥ó¥Ñ¥¯¤¬Ï³½Ð¤·¤¿·ë²ÌÄãÃÁÇò·ì¾É¤òµ¯¤³¤¹¡£Ê¢Éô¡¦ÇÙ¼þ°Ï¤ÎÈé²¼¤Î¶õƶÉôʬ¤Ë¿å¤¬¤¿¤Þ¤ë(Ê¢¿å¡¢¶»¿å)¡¢·ìÀòºÉÀò¾É¤ä¥¢¥ì¥ë¥®¡¼¤äÈéÉ桦¼ª¤Î´¶À÷¾É¤Ê¤ÉÈéÉæ¤ÎÌäÂê¤òÊú¤¨¤Æ¤¤¤ë¤³¤È¤â¤¢¤ë¡£¿Õ¾É¤âʻȯ¤¹¤ë¤È·ìÀ¶ÁíøÇò¡¢¥¢¥ë¥Ö¥ß¥ó¡¢¥°¥í¥Ö¥ê¥ó¡¢¥³¥ì¥¹¥Æ¥í¡¼¥ë¤ÏÊ¿¶ÑÃÍ¡©¤À¤¬¹âÃÁÇòÇ¢ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ½©Åĸ¤¡¢¥Ð¥»¥ó¥¸¡¼¡¢OE¥·¡¼¥×¥É¥Ã¥°¡¢¥í¥Ã¥È¡¢¥½¥Õ¥È¥³¡¼¥Æ¥Ã¥É¥¦¥£¡¼¥È¥ó¥Æ¥ê¥¢ |
597 |
Protein-losing nephropathy ÃÁÇòÁÓ¼ºÀ¿Õ¾ã³² |
¤à¤¯¤ß¡¢Ê¢¿å¡¦¶»¿å¡¢ÃÁÇòÇ¢¡¢Ä㥢¥ë¥Ö¥ß¥ó·ì¾É¡¢¹â»é·ì¾É¡¢¹â·ìÞù¥Õ¥£¥Ö¥ê¥Î¡¼¥²¥ó¡¢·ìÀò | ¤ª¤â¤Êȯ¾ÉǯÎð¤Ï2ºÐ¤«¤é6ºÐ¡£·ìÞù¥¿¥ó¥Ñ¥¯¤¬Ç¢¤Ë½Ð¤Æ¤·¤Þ¤¦¤¿¤á¹³¶Å¸Ç°ø»Ò¤ä¥×¥é¥¹¥ß¥Î¡¼¥²¥ó¤¬Ç¢Ãæ¤Ë¼º¤ï¤ì·ìÀ¶¥¿¥ó¥Ñ¥¯Î̤¬Äã²¼¡¢²á¶Å¸Ç¡¦ÄãÀþÍϾõÂ֤ˤè¤Ã¤Æ·ìÀò¤¬ºî¤é¤ì¤ä¤¹¤¯¤Ê¤ë¡£¤³¤Î·ìÀò¤ÏÇÙÆ°Ì®¤ä¿ÕÀÅÌ®¤Ë¿ȯ(¤Þ¤ì¤Ë±¦¿´Ë¼Æâ)¡¢¸ÆµÛÉÔÁ´¤Ë¤è¤ê»àË´¤Ë¤¤¤¿¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥½¥Õ¥È¥³¡¼¥Æ¥Ã¥É¥¦¥£¡¼¥È¥ó¥Æ¥ê¥¢ |
Pseudoachondroplastic dysplasia µ¶ÀÆð¹ü̵·ÁÀ®¾É |
Äˤߤòȼ¤¦»Í»è¤ÎÊÑ·Á(OµÓXµÓ)¡¦âä¾®¡¢¾®¤Ö¤ê¡¢·ÛÄǤÎÉÔ°ÂÄê(¤¬¿Ê¤à¤ÈÌ¿¤Ë´Ø¤ï¤ë)¡¢ÀÔÃì¤ÎÊÑ·Á¡¢¸Ô´ØÀᡦɨ´ØÀá¤Îæ±±¡¦°¡Ã¦±±¡¢ | Æð¹ü̵·ÁÀ®¾É¤È¤Ï¤Þ¤Ã¤¿¤¯Ê̤Êɵ¤¡£Æð¹ü̵·ÁÀ®¾É¤Ï»Í»è¤Î¹ü¤ÎÀ®Ä¹Æð¹ü¤Ë°ÛÊѤ¬¤¢¤ê¡¢µ¶ÀÆð¹ü̵·ÁÀ®¾É¤Ï¹üü¤Ê¤é¤Ó¤Ë¹ü´´Ã¼¤ÈÀÔÄǹü¤Ë¼çÉÂÊѤ¬¤¢¤ë¡£³°´Ñ¤¬»÷¤Æ¤¤¤ë¤¿¤áµ¶À¤È̾¤Å¤±¤é¤ì¤¿ÌÏÍÍ¡£ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * | |
598 |
Pulmonary adenomatosis ÇÙÁ£¼ð¾É |
¸ÆµÛº¤Æñ | * | ¿°ø»Ò | ¥¹¥¦¥§¥Ç¥£¥Ã¥·¥å¥Ï¥ó¥Æ¥£¥ó¥°¥É¥Ã¥° |
599 |
Pulmonary fibrosis, idiopathic ÆÃȯÀÇÙÁ£¼ð¾É |
³±¡¢¸ÆµÛº¤Æñ | ËýÀ´Ö¼ÁÀÇÙ¼À´µ¡£¼Â¼ÁŪ¤ÊÄã»ÀÁÇ·ì¾É¤ò°ú¤µ¯¤³¤¹ | unknown | ¥¦¥§¥¹¥Æ¥£¡¢¥¹¥¿¥Ã¥Õ¥£¡¼ |
600 |
Pulmonary stenosis ÇÙÆ°Ì®¶¹ºõ¾É |
¿·À¸»ù¤Ï¸ÆµÛ»þ¤Ë¼ó¤òÁ°¸å¤ËÆ°¤«¤¹¡¢¸ÆµÛ¿ô¤ÈÌ®Ç郎Ä㤤¡¢Æý¤Î°û¤ß¤¬°¤¤¡£Â©Àڤ졢¿´»¨²»(·ÚÅÙ)¡¢±¦¿´ÉÔÁ´(½ÅÅÙ) | °Õ¼±ÁÓ¼º¤äÆÍÁ³»à¤Ë¤â¤Ä¤Ê¤¬¤ëÀèÅ·À¿´¼À´µ¡£3ÈÖÌܤÈ4ÈÖÌܤÎϾ¹ü¤Î´Ö¤ÎÉÔµ¬Â§¤Ê¥ê¥º¥à¤È¿´»¨²»¤òÄ°¿Ç´ï¤ÇȽÃǤǤ¤ë¤³¤È¤¬Â¿¤¤¤è¤¦¤À | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ó¡¼¥°¥ë¡¢E¥Ö¥ë¥É¥Ã¥°¡¢¥Á¥ï¥ï¡¢¥Õ¥©¥Ã¥¯¥¹¥Æ¥ê¥¢¡¢¥µ¥â¥¨¥É¡¢S¥·¥å¥Ê¡¢M¥·¥å¥Ê |
Sensory ataxic neuropathy ´¶³Ð±¿Æ°¼ºÄ´À¥Ë¥å¡¼¥í¥Ñ¥Á¡¼ |
* |
Gene: tRNA-Tyr ¥·¥§¡¼¥°¥ì¥ó¾É¸õ·²¤È¹çÊ»¡© |
¥ß¥È¥³¥ó¥É¥ê¥¢°äÅÁ | * |