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501 Neutropenia, cyclic
¼þ´üÀ­¹¥Ãæµå¸º¾¯¾É
¼þ´üŪ(Ê¿¶Ñ10¡Á12Æü¥µ¥¤¥¯¥ë)¤ÊºÆȯÀ­È¯Ç®¡¢¿©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
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502 Niemann-Pick disease
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503 Niemann-Pick disease, type A
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504 Niemann-Pick disease, type C
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505 Night blindness, congenital stationary
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506 Nystagmus, congenital
ÀèÅ·À­´ã¿¶
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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°¶îÂΠ¿°ø»Ò ¥é¥Ö¡¢¥Õ¥é¥Ã¥È
508 Occipital dysplasia
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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
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510 Oculoskeletal dysplasia
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511 Oculoskeletal dysplasia 1
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»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´¡¢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
512 Oculoskeletal dysplasia, 2
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AR ¥é¥Ö¡¢¥µ¥â¥¨¥É
513 Oesophageal motility disorder
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514 Oligodontia
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Onychodystrophy
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515 Onychomadesis, symmetrical
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516 Optic chiasm, absence of
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517 Optic nerve hypoplasia, bilateral
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518 Orchitis
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519 Osmotic resistance of erythrocytes
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520 Osteoarthritis
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521 Osteochondritis dissecans
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522 Osteochondrodysplasia
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523 Osteochondroma causing progressive posterior paresis
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524 Osteochondromatosis
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525 Osteochondrosis
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»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¤¬Í­Ì¾
´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±ÉÍܾÉ
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
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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
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AR ¥À¥Ã¥¯¥¹
531 Osteogenesis imperfecta, type III, COL1A1-related
COL1A1´ØÏ¢·¿¡¡­··¿¹ü·ÁÀ®ÉÔÁ´¾É
¹ü·ÁÀ®ÉÔÁ´¾É»²¾È Gene: COL1A2
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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
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³°¼ª¤Î±ê¾É * ¾ïÀ÷¿§ÂÎÀ­¡¢unknown G¥·¥§¥Ñ¤Ê¤É¿¼ï
534 Otitis media, susceptibility to
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Ã漪¤Î±ê¾É * ¾ïÀ÷¿§ÂÎÀ­¡¢unknown Ç­¤Ê¤É¤â
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
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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)¤ÈµÞÀ­ç¹±ê¡£µÞÀ­ç¹±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
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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¸
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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¸
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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»
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unknown ´Ú¹ñ¤ÎSapsaree¸¤
549 Periodic Fever Syndrome
¼þ´üÀ­È¯Ç®¾É¸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
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552 persistent hyaloid remnants
¾Ë»ÒÂÎÆ°Ì®°ä»Ä
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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¤¤??
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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¥ëÉÂ
* ***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礭¤¯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礭¤¯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
¿ȯÀ­Ç¹Ë¦¿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
*¿ȯÀ­Ç¹Ë¦À­Ã±¥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¤ëÍ­±×¤ÊÎ×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¤ËÅϤ갭²½¤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¤Î¶ÚÆù¤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°ÌÀ­Â¿È¯¥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˦¶õˤÊÑÀ­Â¿È¯¥Ë¥å¡¼¥í¥Ñ¥Á¡¼¤«¤éÉÂ̾Êѹ¹
À¸¸å3¡Á6¥ö·îº¢¤«¤é¾É¾õ¤¬¤Ï¤Ã¤­¤ê¤¹¤ë¡£Ä̾ï2ºÐº¢¤Þ¤Ç¤Ë°Â³Ú»¦ÂоÝ
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 È¯¾ð»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
2012ǯÄɲÃ
AR ¥Á¥Ù¥¿¥ó¥¹¥Ñ¥Ë¥¨¥ë¡¢¥³¥È¥ó¥Ç¥Ä¥ì¥¢¥ë
584 Prognathism
²¼³ÜÁ°Æ;ɡ¢³ÜÁ°Æ;É
¾å³Ü¹ü¤è¤ê²¼³Ü¹ü¤¬Â礭¤¤¤¿¤á²¼¤¢¤´¤¬Á°¤Ë½Ð¤ë¾õÂÖ ¹ü³Ê¤Îñ½ã¤ÊÍ¥À­°äÅÁ(¥Ò¥È¤Ç¤Ï¥Ï¥×¥¹¥Ö¥ë¥°²È¤Çͭ̾)¤Î¾¡¢À夬°Û¾ï¤ËÂ礭¤«¤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
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* * 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
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