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401 Mammary tumour
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402 Mast cell tumour
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403 Masticatory muscle myositis
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¸ý¤ò³«¤±¤¿¤¬¤é¤Ê¤¤(¶ÚÆù¤¬Äˤà)¡¢¸ý¤ÎÃæ¤Î¼ð¤ì¡¢¿©ÍßÄã²¼¡¢È¯Ç®¡£¶ÚÆù¤Î¼ð¤ì¤«¤é»ë³Ð¾ã³²¡¢´ãµåÆͽС¢¼ºÌÀ¡£È¯¾É»þ´ü¤Ï¼ãǯ¡¢Ãæǯ ÊÌ̾°à½ÌÀ­ÒòÓð¶Ú±ê¡¢¹¥»ÀµåÀ­¶Ú±ê¡¢ÒòÓð¥ß¥ª¥Ñ¥Á¡¼¡£ÒòÓð¶Ú¤ò¹³¸¶¤È¤·¤Æǧ¼±¤·¼«¸ÊÌȱ֤¬Æ¯¤¯¤è¤¦¤Ë¤Ê¤Ã¤¿¾õÂ֤ǡ¢¤Þ¤ë¤Ç¤¦¤ÄɤΤ褦¤Ê¾É¾õ¤È¸«¤¨¤ë¡£¸ý¤òÊĤ¸¤é¤ì¤Ê¤¤¾ì¹ç¤â¤¢¤ë¡£2¡Á3½µ´ÖµÞÀ­´ü¤¬Â³¤¤¤Æ¤¤¤ë´Ö¤ËŬÀڤʼ£ÎŤò¤µ¤ì¤Ê¤¤¤È¡¢¶ÚÆù¤Î¼ý½Ì¤¬¹Å²½¤µ¤ì¤ëËýÀ­´ü¤Ë¤Ê¤ë¤¿¤áËã¿ì¤ò¤«¤±¤Æ¤â¸ý¤ò³«¤±¤é¤ì¤Ê¤¯¤Ê¤ë¡£ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown *
404 May-Hegglin anomaly
¥á¥¤¥Ø¥°¥ê¥ó°Û¾ï
̵¾É¾õ¡Á·ÚÅ٤νзì¾É¾õ Gene: MYH9
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405 Medial coronoid disease
Æâ¦îì¾õ¼À´µ
Á°»è¤ÎÊâ¹ÔÉ԰¡¦ìì¹Ô¡¢Æ¬Éô¤ò¾å²¼¤ËÍɤ餷¤ÆÊ⤯ ɪ´ØÀá¼À´µ¤Î¸¶°ø¤Î°ì¤Ä¡£Æâ¦îì¾õ(Æ͵¯)¤È¤Ï¾åÏÓ¹ü(¸ª¤«¤éɪ¤Þ¤Ç¤ÎĹ¹ü)¤È¼Ü¹ü(ɪ¤«¤é¼ê¼ó¤Þ¤Ç2Ëܤ¢¤ë¤¦¤Á¾®»Ø¦¤ÎĹ¹ü)¤ÈÜö¹ü(¤È¤¦¤³¤Ä¡¢¼Ü¹ü¤ÎÎÙ¤ÎĹ¹ü)¤¬·ÁÀ®¤¹¤ë´ØÀá¤Îîì(¤«¤®)·Á¤ÎÉô°Ì¡£´ØÀáÆð¹ü¤ÈÆð¹ü²¼¹ü¤ÎξÊý¤ËÉÂÊѤ¬¤¢¤ê¿°ø»ÒÀ­É°ø¤òÍ­¤¹¤ë¤¬¡¢´ûÃΤθ¶°ø°ø»Ò¤È¼À´µ¤È¤Î´Ø·¸¤Ï2013ǯ¸½ºß²òÌÀ¤µ¤ì¤Æ¤¤¤Ê¤¤¡£¼£ÎŤϳ°²Ê¼ê½Ñ¿ä¾©
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unknown ¥é¥Ö¡¢¥´¥ë
406 Megakaryoblastic leukaemia
µð³Ë²êµåÇò·ìÉÂ
¿ô¥ö·î¤ËÅϤë¿Ê¹ÔÀ­¤Î¶ÚÎÏÄã²¼¤ÈÂνŸº¾¯¡£Ìµµ¤ÎÏ¡¢¿©ÍßÉÔ¿¶¡¢ÓÒÅÇ¡¢²¼Î¡¤ª¤è¤Ó±Ê³Ū¤ÊȯǮ¡¢Â¿°û¡¦Â¿Ç¢ ȯ¾É¤¹¤ë¤ÈÄ̾ï·ò¹¯Åª¤Ê¥Ô¥ó¥¯¿§¤ÎÇ´Ë줬ÀÖ·ìµåÉÔ­¤Î¤¿¤á¿§¤¬Çö¤Þ¤ë¡£½Å¾É²½¤ÏÇòÌܤ¬¿¿¤ÃÀ֤˽¼·ì¡¢°×´¶À÷À­¡¢Â¿Â¡´ïÉÔÁ´ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown *
407 Megaoesophagus
µðÂç¿©Æ»¾É
¿©Æ»¤Î¶ÚÆù¤Î¶¯ÅÙ¤¬¼º¤ï¤ì¤ë¤³¤È¤Ë¤è¤ë¿©Êª¤ÎµÕή¡¢³±¡¢¿©ÍßÉÔ¿¶¡¢Ìµµ¤ÎÏ¡¢¤²¤Ã¤×¿¡¢Ã¦ÎÏ´¶¡¢ÂñդÎÁý²Ã¡¢Ê®¿å¤Î¤è¤¦¤ÊÓÒÅÇ ÊÌ̾¿©Æ»±¿Æ°°Û¾ï¡¢¥¢¥«¥é¥·¥¢¡¢Ê®Ì礱¤¤¤ì¤ó¡¢ÆÃȯÀ­¿À·Ð¶Úµ¡Ç½¾ã³²¡¢¿©Æ»¥¢¥È¥Ë¡¼¡¢¿©Æ»³ÈÄ¥¡£ÂнèË¡¤Ï¤Û¤È¤ó¤É¤Î½Ã°å»Õ¤«¤é¥¢¥É¥Ð¥¤¥¹¤ò¼õ¤±¤é¤ì¤ë¤¬¸íÓëÀ­ÇÙ±ê¤ä±ÉÍܼºÄ´¤Ç¼÷Ì¿¤òÁ´¤¦¤·¤Ë¤¯¤¤ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥Ü¥¹¥Æ¥ê¡¢M¥·¥å¥Ê¡¢G¥·¥§¥Ñ¡¼¥É¡¢¥°¥ì¡¼¥Ï¥¦¥ó¥É
408 Melanoma, congenital
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409 Melanoma, malignant
°­À­¹õ¿§¼ð
¥á¥é¥Î¥µ¥¤¥ÈͳÍè¤Î°­À­¼ðáç ÈéÉæ¡¢´ããÝÆâÁÈ¿¥¡¢¸ý¹ÐÇ´Ëì¾åÈé¤Ê¤É¤Ë¤Ç¤­¤ë¼ðáç unknown *
410 Menkes syndrome
¥á¥ó¥±¥¹ÉÂ
ȯãÃٱ䡢ÄãÂβ¹¡¢¤±¤¤¤ì¤óȯºî¡¢¶ÚÎÏÄã²¼¡¢½ÌÌÓ Genes:TP53,APRT,CKM,PKLR,CSF1R,ATP7A
XÀ÷¿§ÂÎÏ¢º¿ÎôÀ­°äÅÁ¤Ë¤è¤ëƼÂå¼Õ°Û¾ï¾É¡£Æ¼¤¬Ä²´É¤ËÃßÀѤ·ÂÎÆâ¤ËʬÈ礵¤ì¤Ê¤¤¤Î¤Ç½ÅÆƤÊƼ·ç˳¤Ë¤Ê¤ë¡£Ç¾·ì±Õ´ØÌç¤Ë¤âƼ¤¬ÃßÀѤ··ì±Õ¤«¤é¿À·ÐºÙ˦¤Ø¤ÎƼ͢Á÷¤¬¾ã³²¤µ¤ì¤ë¤¿¤á¿À·ÐºÙ˦¤Ï¤µ¤é¤Ë½ÅÆƤÊƼ·ç˳¤Ë¤Ê¤ë
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411 Metabolizer of a congitive enhancer
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* Gene: CYP1A2
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¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥Ó¡¼¥°¥ë
412 Methemoglobinaemia, CYB5R3-related
CYB5R3´ØÏ¢·¿¥á¥È¥Ø¥â¥°¥í¥Ó¥ó·ì¾É
¥Á¥¢¥Î¡¼¥¼¡¢ÓÏ̲¡¢±¿Æ°ÉÔÂÑÀ­¡¢Æ¬¤Ë¿¨¤ì¤¿¤È¤­¤Î¹¶·âÀ­ ¥á¥È¥Ø¥â¥°¥í¥Ó¥óÇ»Å٤ξ徺¡£¼ã¤¤»¨¼ï¸¤¤Î¥·¥È¥¯¥í¥àb5¥ì¥À¥¯¥¿¡¼¥¼·ç»¡Ê¥²¥Î¥à²òÀϡˤ¬¥á¥È¥Ø¥â¥°¥í¥Ó¥ó·ì¾É¤Î¸¶°ø¤È¤¤¤¦¸¦µæ¡£Ä¹´ü¤Î¥á¥Á¥ì¥ó¥Ö¥ë¡¼ÅêÍ¿¤ÇÇ»ÅÙ¤¬Àµ¾ï²½¤·¤¿ AR »¨
413 Microphthalmia
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414 Mislocated polydontic maxillary incisor teeth
???»õʤÓ???ÀÚ»õ
Á°»õ¤ÎËÜ¿ô¤¬Â¿¤¤¡¢Á°»õ¤ÎÃæ±û¤Î»õ·Ô¤«¤éÀµ¾ï¤Ê»õ¤è¤ê¤ä¤äû¤¤º¬¤ò»ý¤Ä°Û¾ï¤Ê»õ¤¬À¸¤¨¤Æ¤¤¤ë¾õÂÖ ¢¨Ì¤¸¡¾Ú¢¨¡¡¡¡Mislocated¢ª´Ö°ã¤Ã¤¿°ÌÃ֤Τ褦¤Ê°ÕÌ£¡© polydontic¢ªpoly¤Ï¿¡¢ maxillary¢ª¾å¤¢¤´¤Î¡¢ incisor¢ªÀÚ»õ¤Þ¤¿¤ÏÌç»õ¡¢ teeth¢ªÊ£¿ô¤Î»õ
Àµ¾ï¤è¤ê¿¤¤Í¾Ê¬¤Ê»õ¤¬¤¢¤Ã¤Æ»õ¤¬2Îó¤ËÀ¸¤¨¤¿¤ê¤¹¤ë¡¢¤½¤Î²á¾ê¤Ê»õ¤Îº¬¤Ïû¤¤¤³¤È¤¬Â¿¤¤¡¢·ä´Ö¤Ë¿©¤Ùʪ¤¬¤Ä¤Þ¤Ã¤Æ¸ýÆâ¥È¥é¥Ö¥ë¤ò°ú¤­µ¯¤³¤¹¡¢¤Î¤è¤¦¤Ê¤³¤È¤¬¥ª¡¼¥¹¥È¥é¥ê¥¢¡¦¥·¥É¥Ë¡¼Âç³ØLIDA¤Î¥µ¥¤¥È¤Ë¤¢¤ê¡£
¾ïÀ÷¿§ÂÎÀ­¡¢unknown *
415 Mitochondrial myopathy
¥ß¥È¥³¥ó¥É¥ê¥¢¥ß¥ª¥Ñ¥·¡¼
¶ÚÆù¤Î¾ã³²¡¢¾®Ç¾¾É¾õ ¥ß¥È¥³¥ó¥É¥ê¥¢¤Ëµ¡Ç½ÉÔÁ´¤Î¤¢¤ë¶ÚÆù¼À´µ¤ÎÁí¾Î¡£¥ß¥È¥³¥ó¥É¥ê¥¢Ç¾¶Ú¾É¤È¤â¸À¤¦ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥¸¥ã¥Ã¥¯
416 Mitral stenosis
ÁÎ˹ÊÛ¶¹ºõ¾É
°×ÈèÏ«´¶¡¢¸ÆµÛº¤Æñ¡¢ÇÙ¹â·ì°µ¡¢ÇÙ¿å¼ð¡¢¿´ÉÔÁ´¡¢¿´Ë¼ºÙÆ° ÁÎ˹ÊÛ¸ý¤Î¶¹ºõ¤Ë¤è¤Ã¤Æº¸¿´Ë¼¤«¤éº¸¿´¼¼¤Ø·ì±Õ¤¬Î®¤ì¤Ë¤¯¤¯¤Ê¤ë¿´Â¡¼À´µ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown *
417 Mitral valve disease
ÁÎ˹ÊÛËì¾É
©Àڤ졢¸ÆµÛº¤Æñ¡¢Æ°Ø©¡¢ÉÔÀ°Ì®¡¢Ç¾¹¼ºÉ¡¢¿´¶Ú¹¼ºÉ ÁÎ˹ÊۤϺ¸¿´Ë¼¤Èº¸¿´¼¼¤Î´Ö¤Ë¤¢¤ëÊÛ¡£ÁÎ˹ÊÛ¶¹ºõ¾É¤ÈÁÎ˹ÊÛµÕή¾É¤òÁÎ˹ÊÛËì¾É¤È¸À¤¦¡£ÁÎ˹ÊÛ¶¹ºõ¾É¤ÏÊۤ㫤­¤¬ÉÔ½½Ê¬¤ÇÁÎ˹ÊÛµÕή¾É(Êĺ¿ÉÔÁ´)¤ÏÊÛ¤ÎÊĺ¿¤¬ÉÔ½½Ê¬ ¿°ø»Ò *
418 Motor neuron disease
±¿Æ°¿À·Ð(¥Ë¥å¡¼¥í¥ó)¼À´µ
¹Åľ¡¢¤®¤³¤Á¤Ê¤¤Æ°ºî¤Ê¤É¶ÚÎÏÄã²¼¡¦¶Ú°à½Ì ¥Ë¥å¡¼¥í¥ó¼À´µ¤Ï±¿Æ°·Ï¤¬¾ã³²¤µ¤ì¤ë¤¤¤¯¤Ä¤«¤Îɵ¤¤Ç¡¢ºÇ¤â¶¯¤¯¾ã³²¤Î¤¢¤ëÉôʬ¤Ë±þ¤¸¤ÆÉÂ̾¤¬¤Ä¤¯¡£¾É¾õ¤Ï¾ã³²¤ÎÉôʬ¤Ë¤è¤Ã¤Æ°Û¤Ê¤ë¡£±¿Æ°Èé¼Á¤ÈǾ´´¤Î´Ö¡¢¤Þ¤¿¤ÏÀÔ¿ñ¤Î´Ö¤Î¥Ë¥å¡¼¥í¥ó¤¬¾ã³²¤µ¤ì¤ë¾å°Ì¤È¡¢Á°³ÑºÙ˦¤Þ¤¿¤Ï¹ü³Ê¶Ú¤Ø¤È¿­¤Ó¤¿¤½¤Î±ó¿´À­¼´º÷¤¬¾ã³²¤µ¤ì¤ë²¼°Ì¤ËʬÎव¤ì¤ë¡£
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419 Motor neuron disease, lower
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420 Mucopolysaccharidosis I
¥à¥³Â¿Åü¾É­µ·¿
¥à¥³Â¿Åü¾É»²¾È Gene: IDUA
6¥ö·î¤«¤é1ºÐ¤Çȯ¾É ¦Á-L-iduronidase·ç»¤Ë¤è¤ë¥Ç¥ë¥Þ¥¿¥óβ»À¤È¥Ø¥Ñ¥é¥óβ»À¤ÎÃßÀÑ¡£­µ·¿¤Ï¤µ¤é¤Ë½Å¾É·¿¤Î¥Ï¡¼¥é¡¼¾É¸õ·²Hurler syndrome¡¢Ãæ´Ö·¿¤Î¥Ï¡¼¥é¡¼-¥·¥ã¥¤¥¨¾É¸õ·²Hurler-Scheie syndrome¡¢·Ú¾É·¿¤Î¥·¥ã¥¤¥¨¾É¸õ·² Scheie syndrome¤ËʬÎव¤ì¤ë
AR *
421 Mucopolysaccharidosis ­¶
¥à¥³Â¿Åü¾É­¶·¿
Àå¤ÎÈîÂç¡¢Áû²»¸ÆµÛ¡¢µ¤Æ»´¶À÷¡¢´Î磼𡢹üÊѲ½¡¢¤Ä¤Þ¤Å¤­¡¢»Í»è¤ò¸ØÄ¥¤¹¤ë¤è¤¦¤ÊÊ⤭Êý¡¢³ÑË캮Âù¡¢´ØÀá¤Î²ÄÆ°À­Äã²¼(¤¹¤Ù¤Æ¿Ê¹ÔÀ­) iduronate-2-sulfatase·ç»¤Ë¤è¤ë¥Ø¥Ñ¥é¥óβ»À¤È¥Ç¥ë¥Þ¥¿¥óβ»À¤ÎÃßÀÑ¡£Ç¢Ãæ¤Ë¥à¥³Â¿Åü¤Ç¤¢¤ë¥Ç¥ë¥Þ¥¿¥óβ»À¡¢¥Ø¥Ñ¥é¥óβ»À¤¬Â¿Î̤ËÇÓÝõ¤µ¤ì¤ë¡£¥Ï¥ó¥¿¡¼¾É¸õ·²Hunter syndrome x-linked *
422 Mucopolysaccharidosis ­·A
¥à¥³Â¿Åü¾É­·A·¿
¿ç̲¾ã³²¡¢È¯Ã£Ãٱ䡢¤±¤¤¤ì¤óȯºî¡¢¶½Ê³¡¢¹¶·âÀ­¡¢Êâ¹ÔÉÔǽ Genes:SGSH
·ç»¹ÚÁǤΰ㤤¤Ë¤è¤êMPS III-A·¿¡ÁIII-D·¿¤Î4¤Ä¤Î°¡·¿¤ËʬÎव¤ì¤ë¤¬¡¢Î×¾²¾É¾õ¤Ï¤Û¤È¤ó¤ÉƱ¤¸¡£½ÅÅÙ¤ÎÀº¿Àȯã¤ÎÃÙÂÚ¤¬¼ç¾É¾õ¤Ç¤¢¤ê¡¢¹ü¡¦´ØÀá°Û¾ï¤ä´Î磼ð¤È¤¤¤Ã¤¿¾É¾õ¤Ï·ÚÅÙ¡£¥µ¥ó¥Õ¥£¥ê¥Ã¥Ý¾É¸õ·²Sanfilippo syndrome
AR ¥À¥Ã¥¯¥¹¡¢NZ¥Ï¥ó¥¿¥¦¥§¥¤
423 Mucopolysaccharidosis ­·B
¥à¥³Â¿Åü¾É­·B·¿
Ʊ¾å Gene not yet published
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AR ¥¹¥­¥Ã¥Ñ¡¼¥­
424 Mucopolysaccharidosis ­º
¥à¥³Â¿Åü¾É­º·¿
¿åƬ¾É¡¢¶»¹ü´ñ·Á Genes: ARSB
N-acetylgalactosamine-4-sulfatase(N-¥¢¥»¥Á¥ë¥¬¥é¥¯¥È¥µ¥ß¥ó-4-¥¹¥ë¥Õ¥¡¥¿¡¼¥¼)·ç»¤Ë¤è¤ë¥Ç¥ë¥Þ¥¿¥óβ»À¤ÎÃßÀÑ¡£¥Ï¡¼¥é¡¼¾É¸õ·²¤ÈƱÍͤξɾõ¡£ ¥Þ¥í¥È¡¼¡¦¥é¥ß¡¼¾É¸õ·²Maroteaux-Lamy syndrome
AR ¥ß¥Ë¥Ô¥ó¡¢Ç­
425 Mucopolysaccharidosis ­»
¥à¥³Â¿Åü¾É­»·¿
4½µÎð¤Çû¤¯ÂÀ¤¤´é¡¦¡¦²£Êý¸þ¤Ë¹­¤¤¶»¡¦Ä㤤¼ªÉÕ¤­¡¢8½µÎð¤Ç¤Ó¤Þ¤óÀ­³ÑË캮Âù¡¢9½µÎð¤Ç¤Ï²áÅÙ¤ËÂ礭¤ÊƬÉô¡¦¤½¤Î¸¤¼ï¤ÎÄ̾ï¤Î»Ò¸¤¤ÎȾʬÄøÅÙ¤ÎÂ礭¤µ Genes:GUSB
¦Â-glucuronidase·ç»¤Ë¤è¤ë¥à¥³Â¿ÅüÎà¤ÎÁÈ¿¥ÆâÃßÀÑ¡£¥¹¥é¥¤É¡¢¥¹¥é¥¤¾É¸õ·²Sly syndrome
AR G¥·¥§¥Ñ
426 Multidrug resistance 1
¿ºÞÂÑÀ­¡¡1
¥¤¥Ù¥ë¥á¥¯¥Á¥ó·Ï¤ÎÌô¤òÅêÍ¿¤¹¤ë¤³¤È¤Ç°Ê²¼¤Î¿À·Ð¾É¾õ¤¬½Ð¤ë¤³¤È¤â¤¢¤ë¡£±¿Æ°¼ºÄ´¡¢¿¶Àï¡¢¤±¤¤¤ì¤ó¡¢Î®Þ·¡¢½ùÌ®¡¢»¶Æ·¡¢ºª¿ç¡¢¸ÆµÛÄä»ß Gene: ABCB1¡¡
ÊÌ̾¥¤¥Ù¥ë¥á¥¯¥Á¥óÉÔÂѾÉor²áÉҾɡ£ËÒÍÓ¸¤·Ï¤Ï°äÅÁ»Ò¸¡ºº¥¢¥ê
AR ¥³¥ê¡¼¤Ê¤ÉËÒÍÓ¸¤¡¢¥·¥ë¥±¥ó¡¢¥í¥ó¥°¥¦¥£¥Ú¥Ã¥È
427 Multifocal retinopathy 1
¿ȯÀ­ÌÖËì¾É¡¡1¡¡
ÌÖËì¾É»²¾È Gene: BEST1¡¡
À¸¸å2¥ö·îº¢¤«¤éÌÖË쿧ÁǾåÈé¶õ˦²½¡¢ÌÖËìÁÈ¿¥¤ÎÈîÂç¤Ê¤ÉÊ£¿ô¤ÎÎΰè¤ËÌÖËìÊÑÀ­¤¬µ¯¤³¤ë¡¢
AR A¥·¥§¥Ñ¡¢¥Ö¥ë¡¢¥Ô¥ì
428 Multifocal retinopathy 2
¿ȯÀ­ÌÖËì¾É¡¡2¡¡
ÌÖËì¾É»²¾È Gene: BEST1¡¡
ÌÖË쿧ÁǾåÈé¶õ˦²½¡¢ÌÖËìÁÈ¿¥¤ÎÈîÂç¤Ê¤ÉÊ£¿ô¤ÎÎΰè¤ËÌÖËìÊÑÀ­¤¬µ¯¤³¤ë¡¢
AR ¥³¥È¥ó¥Ç¥Ä¥ì¥¢¥ë(¾®·¿¤ÎÇò¸¤)
429 Multifocal retinopathy 3
¿ȯÀ­ÌÖËì¾É¡¡3¡¡
ÌÖËì¾É»²¾È Gene: BEST1¡¡
ÌÖË쿧ÁǾåÈé¶õ˦²½¡¢ÌÖËìÁÈ¿¥¤ÎÈîÂç¤Ê¤ÉÊ£¿ô¤ÎÎΰè¤ËÌÖËìÊÑÀ­¤¬µ¯¤³¤ë¡¢
AR ¥é¥Ý¥Ë¥¢¥ó¥Ï¡¼¥À¡¼(5G)
430 Multiple anomalies
*Ê£¿ô¤Î°Û¾ï
¸ý³¸Îö¡¢Â¿»Ø¾É¡¢¹ç»Ø¾É¡¢æú¹ü礹ü¤Îû½Ì¡¢ÀÔÄǦ׿¤Ê¤É¤¬°ìÅ٤˸½¤ì¤ë À÷¿§Âΰ۾ï¤Ë¤è¤ë´ñ·Á¾É¸õ·²¤Î¤è¤¦¤Ê¾õÂÖ¤ò»Ø¤¹¤è¤¦¤À¡£¸ý³¸Îö¤Î¤Ê¤¤¥á¥¹¤Ï¾É¾õ¤¬·Ú¤á¤Î¾ì¹ç¤¢¤ê¡¢¥À¥Ö¥ë¥Þ¡¼¥ë¤Î¥ª¡¼¥¹¥È¥é¥ê¥¢¥ó¥·¥§¥Ñ¡¼¥É¤Îµ­½Ò¤¢¤ê(MM¤ÈƱ»þ¤Ëµ¯¤³¤ë¡©) X-linkÃ×»à A¥·¥§¥Ñ
431 Multiple autoimmune diseases syndrome
Ê£¿ô¤Î¼«¸ÊÌȱּÀ´µ¾É¸õ·²
ÆâʬÈç¼À´µ¡¢À¸¿£¾ã³²¡¢Ã¦ÌÓ¡¢ÇòÈá¢ÉÏ·ì ÅüǢɤȥ¢¥¸¥½¥óɤȶڱê¤ä¶Ú̵ÎϾɤʤɤòʻȯ¤¹¤ë¤è¤¦¤Ê¾õÂÖ¡£¾É¾õ¤Ï¤µ¤Þ¤¶¤Þ¤Î¤è¤¦ unknown ¥¤¥¿¥°¥ì
432 Multiple ocular defects
*¿ȯÀ­»ëÉô·ç»
ÌÖËì¤Î°Û·ÁÀ®¤ÈÇòÆâ¾ã¤È¿å¾½ÂÎÊÑÀ­¤¬½Å¤Ê¤ë¤è¤¦¤Ê¾õÂÖ * ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ½©Åĸ¤
433 Multiple system degeneration
¿ȯÀ­¹Å²½¾É
ÉÂÊѲսê¤Ë¤è¤Ã¤Æ¾É¾õ¤ÏÍÍ¡¹¤Ç¡¢»ëÎÏÄã²¼¡¦»ëÌî·ç»(»ë¿À·Ð)¡¢´ã¿¶¡¦Ê£»ë(Ǿ´´Éô)¡¢Êâ¹Ô¤Î¤Õ¤é¤Ä¤­¡¦ºÙ¤«¤¤¿Ì¤¨(¾®Ç¾)¡¢»Í»è¤Îáã¤ì¡¦ÇÓÇ¢¾ã³²¡¦Ç¢¼º¶Ø(ÀÔ¿ñ)¡¢¥Ñ¡¼¥­¥ó¥½¥óÉÂÍͤÎÉÂÂÖ Â¿È¯À­Ãæ¿õ¿À·ÐÊÑÀ­¡£ÀÔ¿ñ¾ã³²¤Î²óÉü´ü¤ËÍ­ÄËÀ­¶¯Ä¾À­áÛÚ»(¤Æ¤ó¤«¤ó¤È´ÕÊÌ)¤¬¸«¤é¤ì¤ë¡£Î¬¾ÎCMSD(MSD)¡£³°æõÍÕ°Û·ÁÀ®¤È¤â´ØÏ¢??
¿ÇÃǤÏMRI¡¢ÉÂÊÑÉô¤¬Ç¾¤Ç¤¢¤ì¤ÐǾÀÔ¿ñ±Õ¤Î±ê¾É¤Î̵ͭ(¹øÄÇÀü»É)¡£
AR ¥±¥ê¡¼¥Ö¥ë¡¼
¥Á¥ã¥¤¥¯¥ì
434 Muscular dystrophy
¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼
¿Ê¹ÔÀ­¤Î¶ÚÆù¾ã³² ¶ÚÆù¤ÎÀµ¾ïµ¡Ç½¤ËɬÍפʰäÅÁ»Ò¤Î1¤Ä¤Þ¤¿¤ÏÊ£¿ô¤Î·ç´Ù¤Î·ë²ÌÀ¸¤¸¤ë°äÅÁÀ­¤«¤Ä¿Ê¹ÔÀ­¤Î¶Ú¼À´µ ¾ïÀ÷¿§ÂΡ¢unknown ¥Ö¥ê¥¿¥Ë¡¼¥¹¥Ñ¥Ë¥¨¥ë
435 Muscular dystrophy, Becker type
¥Ù¥Ã¥«¡¼·¿¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼
¶á°Ì¶Ú¤«¤é¤Î¶ÚÎÏÄã²¼ ¥Ç¥å¥·¥§¥ó¥Ì·¿¤Ë»÷¤Æ¤¤¤ë¤¬·ÚÅÙ unknown¡Ê¥Ò¥È¤Ç¤ÏXR¡Ë ¥é¥Ö
436 Muscular dystrophy, Duchenne typs
¥Ç¥å¥·¥§¥ó¥Ì·¿¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼
¶á°Ì¶Ú¤«¤é¤Î¶ÚÎÏÄã²¼¡¢¸ÆµÛº¤Æñ¤Ë¤è¤ë»àË´ Genes: DMD
¶ÚÀþ°Ý¤ÎÊÑÀ­¤Ë¤è¤Ã¤Æµ¯¤³¤ë¶á°ÌÉô¤Î¿Ê¹ÔÀ­¤Î¶ÚÎÏÄã²¼¤òÆÃħ¤È¤¹¤ëXÏ¢º¿ÎôÀ­°äÅÁÀ­¼À´µ¡£¥Ù¥Ã¥«¡¼·¿¤Ïȯ¾É¤¬ÃÙ¤¯¾É¾õ¤Ï·ÚÅÙ
XR *
437 Muscular dystrophy, dysphagia-associated
*Óë²¼¾ã³²¿ïȼÀ­¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼
¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼»²¾È 99ǯÓë²¼¾ã³²¤Î¸¤¤¬Ê£¿ôƬ¤¤¤Æ¸¤¼ï¤¬¥Ö¡¼¥Ó¥¨¥Ç¥Õ¥é¥ó¥À¡¼¥¹¤Ð¤«¤ê¤Ç¤·¤«¤âÁ´Æ¬¿ÆÀ̸¤¤À¤Ã¤¿¤È¤¤¤¦Êó¹ð unknown ¥Õ¥é¥ó¥À¡¼¥¹
438 Muscular dystrophy, limb-girdle, type 2E
*»èÂÓ2E·¿¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼
·ÚÅÙ¡Á½ÅÅ٤ޤǤµ¤Þ¤¶¤Þ¤Ê¶ÚÎÏÄã²¼ ·ÚÅ٤ϳ¬Ãʾº¹ß¤äÁö¤ë¤Î¤¬¶ì¼ê¡¢²£¤¿¤ï¤Ã¤¿»ÑÀª¤«¤éµ¯¤­¾å¤¬¤ë¤Î¤¬ÉÔ¼«Í³¡£¥µ¥ë¥³¥°¥ê¥«¥ó·ç»¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼¡£¥Ò¥È¤Ç¤Ï¸¶°ø°äÅÁ»Ò¤¬Ê£¿ô¤¢¤ë¤³¤È¤¬ÃΤé¤ì¤Æ¤¤¤ë¡£¿Ê¹Ô¤Ï¤æ¤Ã¤¯¤ê unknown¡Ê¥Ò¥È¤Ç¤ÏAD¡¢AR¡Ë *
439 Muscular dystrophy, limb-girdle, type 2F
*»èÂÓ2F·¿¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼
·ÚÅÙ¡Á½ÅÅ٤ޤǤµ¤Þ¤¶¤Þ¤Ê¶ÚÎÏÄã²¼ ·ÚÅ٤ϳ¬Ãʾº¹ß¤äÁö¤ë¤Î¤¬¶ì¼ê¡¢²£¤¿¤ï¤Ã¤¿»ÑÀª¤«¤éµ¯¤­¾å¤¬¤ë¤Î¤¬ÉÔ¼«Í³¡£¥µ¥ë¥³¥°¥ê¥«¥ó·ç»¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼¡£¥Ò¥È¤Ç¤Ï¸¶°ø°äÅÁ»Ò¤¬Ê£¿ô¤¢¤ë¤³¤È¤¬ÃΤé¤ì¤Æ¤¤¤ë¡£¿Ê¹Ô¤Ï¤æ¤Ã¤¯¤ê unknown¡Ê¥Ò¥È¤Ç¤ÏAD¡¢AR¡Ë ¥Ü¥¹¥Æ¥ê
440 Muscular dystrophy, Ullrich type
¥¦¥ë¥ê¥Ã¥ÒÉÂ
À¸¸å¤¹¤°¤«¤éÁ´ÈÌÀ­¤Î¶ÚÎÏÄã²¼¤È¶Ú°à½Ì¡¢¸Ô´ØÀáæ±± ¼ê­¤Î±ó°Ì¤Î´ØÀ᤬¤ä¤ï¤é¤«¤¯¡¢ÇØÃæ¤ä¼ó¤¬¹Å¤¯Æ°¤­¤¬¤è¤¯¤Ê¤¤¡Ê±ó°Ì´ØÀá¤Î²á¿­Å¸¤È¶á°Ì´ØÀá¤Î¹´½Ì¤òȼ¤¦¡Ë AR ¥é¥Ö¡¢¥é¥ó¥É¥·¡¼¥¢
441 Muscular hypertrophy (double muscling)
¶ÚÈîÂç
²á¾ê¶ÚÆù Gene: MSTN
¥À¥Ö¥ë¥Þ¥Ã¥¹¥ë¡£myostatin¥ß¥ª¥¹¥¿¥Á¥ó°äÅÁ»Ò¤ÎÊѰۤˤè¤ë¶ÚÆùÁÈ¿¥¤Î°Û¾ï¤ÊÁý²Ã
¾ïÀ÷¿§ÂÎÀ­¡¢Ã±°ì°äÅÁ»Ò ¥¦¥£¥Ú¥Ã¥È
442 Musladin-Lueke syndrome
*¥Á¥ã¥¤¥Ë¡¼¥º¥Ó¡¼¥°¥ë¾É¸õ·²
ÈéÉ椬¸Ç¤¯¤Ê¤ë¡¢À®Ä¹Ãٱ䡢´ØÀá¤ÎÊÑ·Á(¹´½Ì)¡¢¤Ä¤ÞÀèΩ¤Á(Á°Â­)¡¢¼ª¤Ë¤·¤ï(´é¤Î³°Â¦) Genes: ADAMTSL2¡¡chromosome: 9; Location: 9q34.2
Ĺ¤é¤¯¥Á¥ã¥¤¥Ë¡¼¥º¥Ó¡¼¥°¥ë¾É¸õ·²¤È¸Æ¤Ð¤ì¤Æ¤¤¤¿¡£Áᤱ¤ì¤ÐÀ¸¸å3½µ¤Û¤É¤Ç¼ª¤ÎÆð¹ü¤Ë°Û¾ï¤Ê¥Ò¥À¤¬¸«¤é¤ì¤ë¡£ÈéÉæ¤È´ØÀá¤Î¹­ÈϰϤÊÀþ°Ý²½¡£Tony and Judy Musladin ¤µ¤ó¤é¤È Ada Lueke ¤µ¤ó¤¬1990ǯÂå½é´ü¤ËÄ´ºº¤ò»Ï¤á¤¿¤Î¤Ç¤³¤Î̾Á°¡£¢¨Ê¬Îà̤¸¡¾Ú
¥«¥ê¥Õ¥©¥ë¥Ë¥¢Âç³Ø¥Ç¥¤¥Ó¥¹¹»Veterinary Genetics Laboratory (VGL)¤Ç°äÅÁ»Ò¸¡ºº¥¢¥ê
AR ¥Ó¡¼¥°¥ë
443 Myasthenia gravis
½Å¾É¶Ú̵ÎϾÉ
´ãâÛ²¼¿â¡¢°×ÈèÏ«¡¢Á´¿È¤Î¶ÚÎÏÄã²¼¡¢µðÂç¿©Æ»¤äÓë²¼¾ã³²¤ò¹çÊ»¤¹¤ë¤³¤È¤â¤¢¤ë ¾É¾õ¤¬½Ð¤ëÉô°Ì¤Ë¤è¤Ã¤Æ¡¢Ìܤʤé½Ö¤­¤¬Áý¤¨¤¿¤êâÛ¤¬²¼¤¬¤ê¡¢¸ý¤Ê¤é¤è¤À¤ì¤¬¤¤¤Ä¤âή¤ì¤¿¤ê°û¿©°û¿å¤Ç¤à¤»¤¿¤ê°û¤ß¹þ¤ß¤Ë¤¯¤½¤¦¤Ë¤Ê¤ê¡¢»Í»è¤Ê¤éÊâ¹Ô¤¬º¤Æñ¤Ë¤Ê¤ê¡¢¸ÆµÛ¶Ú¤Ê¤é¸ÆµÛ¤Ë»Ù¾ã¤¬½Ð¤ë¡£ ¿´¼À´µ¤äµðÂç¿©Æ»¾É¤ä¥ê¥ó¥Ñ¼ð¤Ê¤É¾¤Îɵ¤¤¬Ê»È¯¤·¤Æ¤¤¤ë¥±¡¼¥¹¤â¿¤¤¡£¸¦µæÎã¿¿ô ¾ïÀ÷¿§ÂÎÀ­¡¢Ã±°ì°äÅÁ»Ò MS¥À¥Ã¥¯¥¹¡¢¥´¥ë¡¢¥Ë¥å¡¼¥Õ¥¡¥ó¡¢¥³¡¼¥®¡¼¡¢¥°¥ì¡¼¥È¥Ç¥ó¡¢
444 Myasthenic syndrome, congenital, CHAT-related
CHAT´ØÏ¢·¿ ÀèÅ·À­¶Ú̵ÎϾɸõ·²
¾®¤µ¤¤ÊâÉý¡¢±¿Æ°¸å¤Î°ì»þŪ¤ÊËãáã(­¤¬¶þ¶Ê¤·¤ÆºÂ¤ê¹þ¤à¡¢¿ôʬ¤Ç²óÉü)¡¢¶Ú¶ÛÄ¥Äã²¼ Genes:CHAT
Myasthenic syndrome, congenitalÀèÅ·À­¶Ú̵ÎϾɸõ·²¤«¤é¤µ¤é¤ËºÙ¤«¤¯Êѹ¹¡£
À¸¤Þ¤ì¤Ä¤­¶ÚÎÏÄã²¼¡¢·Ú¤±¤ì¤ÐÆý¤òµÛ¤¦ÎϤ¬¼å¤¤¡¦½Å¤¤¤È¸ÆµÛº¤Æñ¤Ê¤É¤µ¤Þ¤¶¤Þ¡£ ¶ÚÅſޤȶÚÀ¸¸¡¤¬°ìÈÌŪ¤Ç¤Ê¤¤¸¤¤Ï³ÎÄê¿ÇÃǤǤ­¤Ê¤¤¥±¡¼¥¹¤Ð¤«¤ê
AR ¥ª¡¼¥ë¥É¥À¥Ë¥Ã¥·¥å¥Ý¥¤¥ó¥¿¡¼
445 Myasthenic syndrome, congenital, CHRNE-related
CHRNE´ØÏ¢·¿ ÀèÅ·À­¶Ú̵ÎϾɸõ·²
¾®¤µ¤¤ÊâÉý¡¢±¿Æ°¸å¤Î°ì»þŪ¤ÊËãáã(­¤¬¶þ¶Ê¤·¤ÆºÂ¤ê¹þ¤à¡¢¿ôʬ¤Ç²óÉü)¡¢¶Ú¶ÛÄ¥Äã²¼ Gene: CHRNE
Myasthenic syndrome, congenitalÀèÅ·À­¶Ú̵ÎϾɸõ·²¤«¤é¤µ¤é¤ËºÙ¤«¤¯Êѹ¹¡£
À¸¤Þ¤ì¤Ä¤­¶ÚÎÏÄã²¼¡¢·Ú¤±¤ì¤ÐÆý¤òµÛ¤¦ÎϤ¬¼å¤¤¡¦½Å¤¤¤È¸ÆµÛº¤Æñ¤Ê¤É¤µ¤Þ¤¶¤Þ¡£ ¶ÚÅſޤȶÚÀ¸¸¡¤¬°ìÈÌŪ¤Ç¤Ê¤¤¸¤¤Ï³ÎÄê¿ÇÃǤǤ­¤Ê¤¤¥±¡¼¥¹¤Ð¤«¤ê
AR ¥¸¥ã¥Ã¥¯¡¢µí
446 Myasthenic syndrome, congenital, COLQ-related
COLQ´ØÏ¢·¿ ÀèÅ·À­¶Ú̵ÎϾɸõ·²
¾®¤µ¤¤ÊâÉý¡¢±¿Æ°¸å¤Î°ì»þŪ¤ÊËãáã(­¤¬¶þ¶Ê¤·¤ÆºÂ¤ê¹þ¤à¡¢¿ôʬ¤Ç²óÉü)¡¢¶Ú¶ÛÄ¥Äã²¼ Gene: LOC608697
Myasthenic syndrome, congenital, Labrador Retriever¥é¥Ö¥é¥É¡¼¥ë¥ì¥È¥ê¥Ð¡¼¼ï¤ÎÀèÅ·À­¶Ú̵ÎϾɸõ·²¤«¤éÉÂ̾Êѹ¹
À¸¤Þ¤ì¤Ä¤­¶ÚÎÏÄã²¼¡¢·Ú¤±¤ì¤ÐÆý¤òµÛ¤¦ÎϤ¬¼å¤¤¡¦½Å¤¤¤È¸ÆµÛº¤Æñ¤Ê¤É¤µ¤Þ¤¶¤Þ¡£ ¶ÚÅſޤȶÚÀ¸¸¡¤¬°ìÈÌŪ¤Ç¤Ê¤¤¸¤¤Ï³ÎÄê¿ÇÃǤǤ­¤Ê¤¤¥±¡¼¥¹¤Ð¤«¤ê
AR ¥é¥Ö
447 Myclin defect
*¿ñ¾ä·ÁÀ®ÉÔÁ´
* ¤º¤¤¤È¤µ¤ä¡¢¿ñ¾ä¢Îmyelin¡¢myclin ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥À¥ë¥á¥·¥¢¥ó
448 Mycosis fungoides
¶Ý¾õ©Æù¼ð
Äˤߤäáڤߤξ¯¤Ê¤¤¹ÈÈä¬ÂΤÎÆ⦤ˤǤ­¤ë¡¢¿Ê¹Ô¤¹¤ë¤È¤Õ¤¯¤é¤ß¤Î¤¢¤ëÁ¯¤ä¤«¤Ê¹È¿§¤Îȯ¿¾ ÈéÉæTºÙ˦¥ê¥ó¥Ñ¼ð¡¢¥»¥¶¥ê¡¼¾É¸õ·²¡£°­À­ÅÙ¤ÎÄ㤤°­À­¥ê¥ó¥Ñ¼ð¤À¤¬È¯¾É¸å;̿¤Ï°ìÈ̤Ë2ǯ¤¬¸ÂÅÙ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥Ü¥¯¥µ¡¼
449 Myelopathy
¥ß¥¨¥í¥Ñ¥Á¡¼¡¢ÀÔ¿ñ¾É
¤Þ¤Ò¤ä¤·¤Ó¤ì¡¢´¶³Ð¾ã³²¡¢±¿Æ°¾ã³²¡¢ÇÓÇ¢¾ã³²¡¢Êâ¹Ô¾ã³² ÀÔ¿ñ¤Î°µÇ÷Åù¤Ë¤è¤ëÀÔ¿ñµ¡Ç½¾ã³²¤ÎÁí¾Î ¾ïÀ÷¿§ÂÎÀ­¡¢unknown G¥·¥§¥Ñ
450 Myeloperoxidase deficiency
¥ß¥¨¥í¥Ú¥ë¥ª¥­¥·¥À¡¼¥¼·ç»¾É
°×´¶À÷À­ ¥ß¥¨¥í¥Ú¥ë¥ª¥­¥·¥À¡¼¥¼¤Ï¹¥Ãæµå¤Ë¿¤¯Â¸ºß¤¹¤ë¹ÚÁǤǥ饤¥½¥¾¡¼¥à¤¿¤ó¤Ñ¤¯¤Î°ì¼ï¡£ºÙ˦Æ⻦¶ÝºîÍѤÎÄã²¼¡£¥Ò¥È¤Ç¤Ï̵¾É¾õ¡Á¥«¥ó¥¸¥À¾É¤Ë°×´¶À÷À­ AR ¥¤¥¿¥ê¥¢¥ó¥Ï¥¦¥ó¥É
451 Myoclonus epilepsy of Lafora
¥é¥Õ¥©¥éɤΥߥª¥¯¥í¡¼¥Ì¥¹â¡áò
¤Æ¤ó¤«¤óȯºî Gene: NHLRC1
ȯºî¤Ï¤·¤Ð¤·¤Ð¼þ°Ï¤Î²»¤ä¸÷¤Ê¤É³°Éô»É·ã¤ËͶȯ¤µ¤ì¤ë¡£¿Ê¹ÔÀ­¥ß¥ª¥¯¥í¡¼¥Ì¥¹¤ÈÆñ¼£À­¤Æ¤ó¤«¤ó¤òȼ¤¦°äÅÁÀ­¿À·ÐÊÑÀ­¼À´µ¡£¿´¶Ú¤ÎÊÑÀ­¤ä´Î¡¡¦ç£Â¡¤Ë²á¥è¥¦ÁÇ»À¥·¥Ã¥ÕÍÛÀ­Êª¼Á¤ÎÄÀÃå¡£
¥ß¥ª¥¯¥í¡¼¥Ì¥¹¤ÏÉÔ¿ï°Õ¤ËȯÀ¸¤¹¤ë¹ü³Ê¶Ú¼ý½Ì
AR ¥Ó¡¼¥°¥ë¡¢¥Ð¥»¥Ã¥È
452 Myopathy
¥ß¥ª¥Ñ¥Á¡¼¡¢¶Ú¾ã³²¡¢¶Ú±ê
¶Ú¼À´µ¤Î¾É¾õ¤ÎÂçȾ¤Ï¶ÚÆù(¹ü³Ê¶Ú)¤¬°à½Ì¤¹¤ë¤³¤È¤Ë¤è¤ë¶ÚÎϤÎÄã²¼ Myo(¶ÚÆù)pathy(É¡¢¶ìÄË)¡£¶ÚÆù¤Î¼À´µ¤ÎÁí¾Î(Èó¾ï¤Ë¿¤¯¤Îɵ¤¤ò´Þ¤à)¡£¸¤¤Ç¤Ïº¬ËÜŪ¼£ÎŤϤۤÜ̵¤¤¡£¼ç¤Ë¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼(°äÅÁÀ­¤Ç¿Ê¹Ô¤¬¤Ï¤Ã¤­¤ê¤·¤Æ¤¤¤ë¤â¤Î)¡¢ÀèÅ·À­¥ß¥ª¥Ñ¥Á¡¼(°äÅÁÀ­¤Ç¶Ú¥¸¥¹¤Û¤É¤Ï¿Ê¹Ô¤¬¤Ï¤Ã¤­¤ê¤·¤Ê¤¤¤â¤Î)¡¢±ê¾ÉÀ­¥ß¥ª¥Ñ¥Á¡¼(¶Ú±ê)¡¢Âå¼ÕÀ­¥ß¥ª¥Ñ¥Á¡¼¤¬¤¢¤ë AD,AR,X-linked ¥é¥Ö
453 Myopathy, centronuclear
Ãæ¿´³Ë¥ß¥ª¥Ñ¥Á¡¼
¶ÚÎÏ¡¦¶Ú¶ÛÄ¥Äã²¼¡¢¸ÆµÛº¤Æñ Genes: PTPLA
ÀèÅ·À­¥ß¥ª¥Ñ¥Á¡¼¤Î¤Ò¤È¤Ä¡£Ä̾ï¤ÏÀ¸¤Þ¤ì¤Æ¤¹¤°¤«¤é°ÛÊѤ¬Ç§¤á¤é¤ì¤ë¤¬°ìÈ̤˿ʹԤ¬´Ë¤ä¤«¤Ê¤¿¤áñ¤Ë¤ª¤È¤Ê¤·¤¤¸¤¤È¤µ¤ì¤Æ¤¤¤ë²ÄǽÀ­¤Ï¹â¤¤¡£
Centro Nuclear Myopathy (CNM)¢ªVetGen¤½¤Î¾¤ÇDNA¸¡ºº¤¢¤êÂоݸ¤¼ï;L¥ì¥È¥ê¡¼¥Ð¡¼
AR *
454 Myopathy, congenital
ÀèÅ·À­¥ß¥ª¥Ñ¥Á¡¼
À¸¤Þ¤ì¤Ä¤­¶ÚÎϤÎÄã²¼¤È¶Ú¶ÛÄ¥¤ÎÄã²¼¤¬¸«¤é¤ì¤ë¡£ ³¬Ãʾº¹ß¤Ï¤Ç¤­¤ëor¤Ç¤­¤Ê¤¤¡¢Ê⤱¤Æ¤âÁö¤ì¤Ê¤¤¤Ê¤É¾É¾õ¤ÏÍÍ¡¹¤À¤¬¶¦Ä̤¹¤ë¤È»×¤ï¤ì¤ë¤â¤Î¤Ë¶ÚÆù¤ÎÁ餻¡¢Óë²¼¾ã³²¤ä¸ÆµÛµ¡Ç½¤Î¾ã³²¤¬¤¢¤ë¡£¤½¤Î¾¤è¤¯¸«¤é¤ì¤ë¹çÊ»¾É¤ÏϳÅͶ»¤Ê¤É¹ü³Ê¤ÎÊÑ·Á¡¢°­À­¹âÇ®¡¢¹â¸ý³¸¡¢¿´´ñ·Á¤ò´Þ¤à½Û´Ä´ï¼À´µ
ÀèÅ·À­¥ß¥ª¥Ñ¥Á¡¼¤ä¶Ú¥¸¥¹¥È¥í¥Õ¥£¡¼¤Ï°­À­¹âÇ®¾É¤È·¸¤ï¤ê¤¬¤ë¤è¤¦¤À(¥Ò¥È¤Î¿ÇÃǤ϶ÚÀ¸¸¡¤Ë¤Ê¤ë¤é¤·¤¤)
¾ïÀ÷¿§ÂÎÀ­¡¢unknown *
455 Myopathy, congenital, with fibre-type disproportion
ÀèÅ·À­Àþ°Ý·¿ÉԶѹեߥª¥Ñ¥Á¡¼
À¸¤Þ¤ì¤Ä¤­¶ÚÎϤÎÄã²¼¤È¶Ú¶ÛÄ¥¤ÎÄã²¼¤¬¸«¤é¤ì¤ë ¾É¾õ¤ÏÀèÅ·À­¥ß¥ª¥Ñ¥Á¡¼¤È¤Û¤ÜƱ¤¸ unknown *
456 Myopathy, Great Dane
¥°¥ì¡¼¥È¥Ç¥ó¼ï¤Î¥ß¥ª¥Ñ¥Á¡¼
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457 Myopathy, mitochondrial
¥ß¥È¥³¥ó¥É¥ê¥¢¥ß¥ª¥Ñ¥Á¡¼¡¢¥ß¥È¥³¥ó¥É¥ê¥¢¶Ú¾É
ÍÍ¡¹¤À¤¬¶ÚÎϤÎÄã²¼¡¢¿´¼À´µ¡¢¤±¤¤¤ì¤ó¡¢ÆñÄ°¤Ê¤É¤òȼ¤¦¤â¤Î¤¬Â¿¤¤ »ÀÁǤ«¤é±¿Æ°¥¨¥Í¥ë¥®¡¼¤òÀ¸»º¤¹¤ëºÙ˦¾®´ï´±¤Ç¤¢¤ë¥ß¥È¥³¥ó¥É¥ê¥¢¤Ëµ¡Ç½ÉÔÁ´¤¬¤¢¤ë¤¿¤áÂΤÎÃæ¤ÇºÇ¤â¥¨¥Í¥ë¥®¡¼¾ÃÈñÎ̤襤¶ÚÆù¤Ë°ÛÊѤòµ¯¤³¤¹¼À´µ¤ÎÁí¾Î¡£ÂåɽŪ¤Ê¼À´µ¤Ï¥«¡¼¥ó¥º¡¦¥»¥¤¥ä¡¼¾É¸õ·²Kearns-Sayre syndrome¡¢KSS(³°´ã¶ÚËãáã¡¢ÌÖË쿧ÁÇÊÑÀ­¡¢¿´ÅÁƳ¥Ö¥í¥Ã¥¯¤Î»°Âç¼çħ¤È¶ÚÎϤÎÄã²¼)¡¢¤Ê¤É¡£Êì·Ï°äÅÁ ¾ïÀ÷¿§ÂÎÀ­¡¢unknown I¥»¥Ã¥¿¡¼
458 Myopathy, progressive, subacute
°¡µÞÀ­¿Ê¹ÔÀ­¥ß¥ª¥Ñ¥Á¡¼
¥ß¥ª¥Ñ¥Á¡¼»²¾È °¡µÞÀ­¤È¤ÏµÞÀ­(ɵ¤¤¬µÞ¤Ë»Ï¤Þ¤ë¤¬Á᤯¼£¤ë¤â¤Î)¤ÈËýÀ­(ɵ¤¤¬´Ë¤ä¤«¤Ë»Ï¤Þ¤êŤ¯Â³¤¯)¤ÎÃæ´Ö¤ò»Ø¤¹¡£
OMIM¡Ê¥Ò¥ÈÍѡˤè¤êËÝÌõ°úÍÑ¡ÖÁ´¿ÈÀ­¥ß¥ª¥Ñ¥Á¡¼¤òÍ­¤¹¤ë´µ¼Ô¤Ï¡¢¤·¤Ð¤·¤ÐµÞÀ­¤Þ¤¿¤Ï°¡µÞÀ­¤òÄ褹¤ë¡£°ìÊý¡¢²È²À­¥ß¥ª¥Ñ¥Á¡¼¤Þ¤¿¤Ï¥¸¥¹¥È¥í¥Õ¥£¡¼¤Ï¡¢¿ï»þ¾É¾õ¤¬·ã¤·¤¯ÄÀÀŲ½¤¹¤ëÂå¼ÕÀ­¥ß¥ª¥Ñ¥Á¡¼¤ò½ü¤¤¤Æ¡¢°ìÈ̤ËËýÀ­Åª¤ÊÍͼ°¤Ç¸ºß¤¹¤ë¡£±ê¾ÉÀ­¥ß¥ª¥Ñ¥Á¡¼¤Î¤Û¤È¤ó¤É¤Ï¡¢°­À­ÉÂÊѤȤδØÏ¢¤òÍ­¤¹¤ë²ÄǽÀ­¤¬¤¢¤ë¡×
¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥·¥ë¥­¡¼¥Æ¥ê¥¢
459 Myopathy, sex-linked
À­À÷¿§ÂΰäÅÁÀ­¥ß¥ª¥Ñ¥Á¡¼
À¸¤Þ¤ì¤Ä¤­¶ÚÎϤÎÄã²¼¤È¶Ú¶ÛÄ¥¤ÎÄã²¼¤¬¸«¤é¤ì¤ë¡£ ³¬Ãʾº¹ß¤Ï¤Ç¤­¤ëor¤Ç¤­¤Ê¤¤¡¢Ê⤱¤Æ¤âÁö¤ì¤Ê¤¤¤Ê¤É¾É¾õ¤ÏÍÍ¡¹¤À¤¬¶¦Ä̤¹¤ë¤È»×¤ï¤ì¤ë¤â¤Î¤Ë¶ÚÆù¤ÎÁ餻¡¢Óë²¼¾ã³²¤ä¸ÆµÛµ¡Ç½¤Î¾ã³²¤¬¤¢¤ë¡£¤½¤Î¾¤è¤¯¸«¤é¤ì¤ë¹çÊ»¾É¤ÏϳÅͶ»¤Ê¤É¹ü³Ê¤ÎÊÑ·Á¡¢°­À­¹âÇ®¡¢¹â¸ý³¸¡¢¿´´ñ·Á¤ò´Þ¤à½Û´Ä´ï¼À´µ X-linked ¥¢¥¤¥ê¥Ã¥·¥å¥Æ¥ê¥¢
460 Myopia
¶á»ë
* ºÙŤ¤¾Ë»ÒÂΤˤè¤ë¶þÀÞ°Û¾ï?? ¾ïÀ÷¿§ÂÎÀ­¡¢Â¿°ø»Ò ¥é¥Ö
461 Myotonia
¶Ú¶ÛÄ¥¾É¡¢¥ß¥ª¥È¥Ë¥¢
¤®¤³¤Á¤Ê¤¤Â­¼è¤ê¡¢Â¿Î̤Îή޷(»Ò¸¤»þÂå)¡¢¹ü³Ê¶ÚÈîÂç¡¢Óë²¼¡¦¸ÆµÛ¾ã³²¡¢³ÜÁ°ÆÍ¾É Genes:CLCN1
»Ò¸¤¤Îº¢¤«¤éȯ¾É¡£²¼Î¡¤äÓÒÅǤòȼ¤¦¡£¶ÚÆù¤¬¤³¤ï¤Ð¤ê¡¢¶Ú¼ý½Ì¤¬Ä¹¤¯Â³¤­´¨¤µ¤ä¶½Ê³¤Ç°­²½¤¹¤ë
AR ¥Ç¥ó¡¢M¥·¥å¥Ê¡¢¥Á¥ã¥¦¥Á¥ã¥¦¡¢¥¹¥¿¥Ã¥Õ¥£¡¼¡¢A¥­¥ã¥È¥ë¥É¥Ã¥°
462 Myotubular myopathy 1
¥ß¥ª¥Á¥å¡¼¥Ö¥é¡¼¥ß¥ª¥Ñ¥Á¡¼
Á´¿È¤Î¿ê¼å¡¢¶ÚÆù¤Î°Ñ½Ì¡¢Áá´ü»àË´ Genes: MTM1
ÀèÅ·À­¤Î¶Ú¼À´µ¤ÇÉáÄÌ¥ª¥¹¤¬È¯¾É¤¹¤ë
X-linked ¥é¥Ö
463 Narcolepsy
¥Ê¥ë¥³¥ì¥×¥·¡¼¡¢¿ç̲ȯºî
¶¯¤¤Ì²µ¤¤Îȯºî¤ò¼ç¤Ê¾É¾õ¤È¤¹¤ëǾ¼À´µ¡£Ã¦ÎϤ·¤¿¤À¤±¤Ë¸«¤¨¤ë¥±¡¼¥¹¤â¤¢¤ë Genes:HCRTR2
°äÅÁ»Ò¸¡ºº¥¢¥ê
AR ¥À¥Ã¥¯¥¹Â¾Â¿
464 Nasal parakeratosis
*É¡¤ÎÉÔÁ´³Ñ²½
¼ç¤ËÉ¡Ì̼þÊÕ¤ÎÈéÉæ¤Î³Ñ¼Á²½¤È¿§ÁÇ漺¡¢½Ð·ì¤¹¤ë¤³¤È¤â¤¢¤ëÄÙáç²½ ²æ¤¬¹ñ¤Ç¤Ï¡ÖÆü¸÷¥¢¥ì¥ë¥®¡¼¡×¤Î¤è¤¦¤Ê¿ÇÃǤ¬¤ª¤½¤é¤¯Â¿¤¤¤È¹Í¤¨¤é¤ì¤ë¡Ê¤È¤¯¤Ë¾®·¿¿Íµ¤¸¤¼ï¡Ë
°äÅÁÀ­¤ÎÉ¡¤ÎÈéÉæ±ê¡£ÉÔÁ´³Ñ²½¤È¤ÏÈéÉæ¤Î¿·ÄÄÂå¼Õ¤¬Àµ¾ï¤Ê¾ì¹ç¤è¤ê¤âÁá¤Þ¤ë¤³¤È¤Ç¡¢À¸¸å6¤«·î¡Á1ºÐ¤¯¤é¤¤¤Ëȯ¾É¤¬Â¿¤¤¤¬Â¾¤Ï·ò¹¯¡£¥Ó¥¿¥ß¥óE¤Î¶É½êÅêÍ¿¤ÈÇò¿§¥ï¥»¥ê¥ó¤ä¥×¥í¥Ô¥ì¥ó¥°¥ê¥³¡¼¥ë¤Î¶É½êŬÍѤ¬¸ú²ÌŪ¤Ê¤³¤È¤â¤¢¤ë
AR ¥é¥Ö
465 Necrosis of digits
¤Ä¤ÞÀè¤Î²õ»à
»Í»è¤ÎÀ褬²õ»à¤¹¤ë ·ì´É(Ëõ¾ÃÆ°Ì®¤«)¤¬µÞ·ã¤ËÊĺɤ¹¤ë¤³¤È¤Ç·ì¤¬Ä̤ï¤Ê¤¯¤Ê¤ëÉôʬ¤¬²õ»à¤òµ¯¤³¤¹¡£¥¢¥Æ¥í¡¼¥àÀ­Æ°Ì®¹Å²½¤¬¸¶°ø¤Ê¤³¤È¤â¤¢¤ë ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥»¥Ã¥¿¡¼¡¢¥Ý¥¤¥ó¥¿¡¼
466 Necrotising encephalopathy, subacute, of Leigh
°¡µÞÀ­²õ»àÀ­Ç¾ÀÔ¿ñ±ê¡¢¥ê¡¼¾É¸õ·²
Àº¿À±¿Æ°È¯Ã£Ãٱ䡢Âà¹Ô¤òµ¯¤³¤¹¡£·ìÃæ¡¢¿ñ±ÕÃæ¤ÎÆý»À¡¢¥Ô¥ë¥Ó¥ó»À¤ÎÇ»ÅÙ¤¬¹â¤¤¤³¤È¤¬Â¿¤¤(Wikipedia) Gene: SLC19A3
¥ê¡¼Ç¾¾É¡£°¡µÞÀ­¤È¤ÏµÞÀ­(¾É¾õ¤¬½Ð¤Æ¤«¤éµÞ·ã¤Ë°­²½¤¹¤ë¤È¤¤¤Ã¤¿°ÕÌ£)¤ÈËýÀ­(ÇȤ¬Â礭¤¯¤Ê¤¯Ä¹¤¯¤«¤«¤Ã¤Æ¤·¤Þ¤¦¤È¤¤¤Ã¤¿°ÕÌ£)¤ÎÃæ´Ö¤È¤µ¤ì¤ë
¾ïÀ÷¿§ÂÎÀ­¡¢unknown
¥ß¥È¥³¥ó¥É¥ê¥¢¡©
¥è¡¼¥­¡¼¡¢¥Ï¥¹¥­¡¼
467 Necrotising myelopathy
²õ»àÀ­¥ß¥¨¥í¥Ñ¥Á¡¼
½é´ü¾É¾õ¤È¤·¤Æ¹Í¤¨¤é¤ì¤ë¤â¤Î¤Ï¤·¤Ó¤ì¤ä´¶³Ð¡¦Êâ¹Ô¾ã³²¡¢¼¡¤¤¤ÇÇÓÇ¢ÇÓÊØ¡¦³Æ¼ï±¿Æ°¾ã³² ²õ»à¤È¤ÏÂΤΰìÉôʬ¤ò¹½À®¤¹¤ëºÙ˦¤À¤±¤¬»àÌǤ·¤½¤ÎÉôʬ¤Îµ¡Ç½¤¬Äã²¼(¤â¤·¤¯¤ÏÉÔÁ´)¤È¤Ê¤ë¤³¤È¤Ç¡¢¥ß¥¨¥í¥Ñ¥Á¡¼¤ÏÀÔ¿ñ¤Î°µÇ÷Åù¤Ë¤è¤ëÀÔ¿ñµ¡Ç½¾ã³²¤ò»Ø¤¹¡£(¥¦¥©¡¼¥é¡¼ÊÑÀ­) ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥³¥¤¥±¥ë
468 Necrotizing meningoencephalitis
²õ»àÀ­¿ñËìǾ±ê
¤±¤¤¤ì¤óȯºî¤È»ëÎϾ㳲¤ä¼ºÌÀ¡¢Àû²ö¤ä¼Ð·Û¤Ê¤É¤Î½ÅÆƤʿÀ·Ð¾É¾õ¡£Âçȯºî¤ä°Â³Ú»à½èʬ¤Ç»àË´ ¥Ñ¥°Ç¾±ê¡¡¸¤¤Î²õ»àÀ­¿ñËìǾ±ê¡Ê¥Ñ¥°Ç¾±ê¡Ë¤ÎÉÂÂÖ²òÀÏ Â¿°ø»Ò¡¢unknown ¥Ñ¥°¡¢¥Þ¥ë¥Á¡¼¥º¡¢¥è¡¼¥­¡¼¡¢¥Á¥ï¥ï
469 Neonatal encephalopathy with seizures
*¤±¤¤¤ì¤óȯºî¤òȼ¤¦¿·À¸»ùǾ¾É
À¸¤Þ¤ì¤¿¤Æ¡ÁÀ¸¸å¿ô½µ´Ö¤Ë¤±¤¤¤ì¤óȯºî¡¢Áá´ü»àË´ Genes: ATF2
Ǿ¾É¤È¤Ï¹­µÁ¤Ë¤ÏǾ¾ã³²¤¬µ¯¤³¤ëɵ¤¤¹¤Ù¤Æ¤ò»Ø¤¹
AR S¥×¡¼¥É¥ë
470 Nephritis
¿Õ±ê
¿°û¿Ǣ¡¢»Ò¸¤¤Îº¢¤«¤é¥¿¥ó¥Ñ¥¯Ç¢¡¦·ìÇ¢¡¢È¯°é¤¬°­¤¤¡¢Î¾Â¦À­´¶²»À­ÆñÄ°¤ò¹çÊ»¡¢¿©Æ»Ê¿³ê¶Ú¼ð¡¦ÌÖËì¤ä±ß¿í¿å¾½Âδã¤Ê¤É´ã¤Î¼À´µ¤Î¹çÊ»¤â¤¢¤ë ¾É¾õ¤Ï°äÅÁ·Á¼°¤Ë¤è¤é¤Ê¤¤¡£¿Õ±ê¤È¤Ï¿Õ¡¤Î±ê¾É¡£Æ©ÀϤä¿Õ°Ü¿¢¤¬Í­¸ú¤Êɾõ¤¬Â¿¤¤¤¿¤á¿Õ±ê¥È¥é¥Ö¥ë¤ò»ý¤Ä¸¤¤Ï»ö¼Â¾åÁá»à¤Ë¤ò¤¹¤ë¤À¤±¤Ç¤¢¤ë ¾ïÀ÷¿§ÂÎÀ­¡¢unknown *
471 Nephritis, autosomal dominant
¾ïÀ÷¿§Âθ²À­¿Õ±ê
¿Õ¡¤Î±ê¾ÉÀ­¼À´µ¤Î³Æ¾É¾õ ¥Í¥Õ¥í¡¼¥¼¾É¸õ·²¡¢Ëö´ü¿ÕÉÔÁ´¡£½ÐÀ¸¸å¤¹¤°¤«¤é¿Ê¹ÔÀ­Ç¢ºÙ´É´Ö¼ÁÀ­¾ã³² AD ¥Ö¥ë¥Æ¥ê¥¢¡¢¥À¥ë¥á¥·¥¢¥ó
472 Nephritis, autosomal recessive
¾ïÀ÷¿§ÂÎÀøÀ­¿Õ±ê
¿Õ¡¤Î±ê¾ÉÀ­¼À´µ¤Î³Æ¾É¾õ ǹ˦¿Õ¡¢¥¢¥ë¥Ý¡¼¥È¾É¸õ·² AR E¥³¥Ã¥«¡¼
473 Nephritis, X-linked
XÀ÷¿§ÂÎÏ¢º¿À­¿Õ±ê
¥¿¥ó¥Ñ¥¯Ç¢¤«¤é»Ï¤Þ¤Ã¤Æ¿Õ±ê¤Î¾É¾õ¤¬µÞ®¤Ë¿Ê¤ß¿¤¯¤ÏÀ¸¸å1ǯ°ÊÆâ¤Ë»àË´ Genes:COL4A5,COL4A1,COL4A6,COL4A4,COL4A3,COL4A2
*
XR ¥µ¥â¥¨¥É

Nephritis, X-linked dominant
XÀ÷¿§ÂÎÏ¢º¿Í¥À­¿Õ±ê
* ¥ª¥¹¤Ï½Å¾É¤À¤¬¥á¥¹¤Ïȯ¾ÉǯÎð¤¬5ºÐ²á¤®¤ÈÃÙ¤¯¾É¾õ¤â·Ú¤¤¤Þ¤Þ¤Î¥±¡¼¥¹¤¬¤¢¤ë XD *
474 Nephropathy
¿Õ¾É¡¢¿Õ¾ã³²
¿Õ¡¾ã³²¡¢È¯°éÃٱ䡢Âå¼Õ¾ã³²¡¢¾ÇÅÀÀ­(ñȯ)²õ»àÀ­Æ°Ì®±ê¡¢º¸¿´Ë¼¿´¶ÚºÙ˦¤ÎÊÑÀ­¤ª¤è¤Ó²õ»à Genes: COL4A4
¥ï¥¤¥Þ¥é¥Ê¡¼¤Ç¤ÏÍĸ¤¡Á¼ã¸¤¡¦¥Ð¡¼¥Ë¡¼¥º¤Ç¤Ï2ºÐȾ¤«¤é3ºÐȾ¤Ëȯ¾É¤·¤¿¥±¡¼¥¹¤¬¤¢¤Ã¤¿
AR ¥·¡¼¥º¡¼¡¢¥Ð¥Ë¡¢¥À¥ë¡¢¥ï¥¤¥Þ¡¢E¥³¥Ã¥«¡¼¡¢¥Ü¥¯¥µ¡¼¡¢¥í¥Ã¥È¡¢P¥³¥®¡¢I¥¦¥ë¥Õ¥Ï¥¦¥ó¥É¡¢¥³¥ê¡¼¡¢
475 Nephrotic syndrome
¥Í¥Õ¥í¡¼¥¼¾É¸õ·²
¿Î̤Υ¿¥ó¥Ñ¥¯Ç¢¤Ë¤è¤ëÄ㥿¥ó¥Ñ¥¯·ì¾É¡¢¤à¤¯¤ß¡¢¿Õµ¡Ç½Äã²¼¡¢Ç¢ÆÇ¾É ¹çÊ»¾É¤Ë·ìÀòºÉÀò¾É¤äÇżïÀ­·ì´ÉÆâ¶Å¸Ç¾É¸õ·²(DIC)¤Ø¤Î¿Ê¹Ô¤¬¤¢¤ë¡£°ìÈÌŪ¤Ë¿Õ¥¢¥ß¥í¥¤¥É¡¼¥·¥¹¤ª¤è¤ÓËìÀ­»åµåÂοձê¤È´ØÏ¢¤·¤Æ¤¤¤ë¡£¥¢¥é¥¹¥«¥ó¥Þ¥é¥ß¥å¡¼¥È¤Ç¤ÏÍÄÎð¡¢¥³¥ê¡¼¤Ç¤Ï¼ãÎð¤Îȯ¾É¤¬¸«¤é¤ì¤Æ¤¤¤ë ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥³¥ê¡¼¡¢¥Þ¥é¥ß¥å¡¼¥È
476 Nervous
¿À·Ð¼Á
²²É¡¢¥·¥ã¥¤¡¢Íî¤Á¤Ä¤­¤Î¤Ê¤¤ ¿À·Ð¼Á¤Ç²²É¤ÊÀ­¼Á¤Î°äÅÁΨ¤Ï¹â¤¤¤È¤µ¤ì¤Æ¤¤¤ë(°ìÀâ¤Ë¤Ï50%)¡£¿Ê¹ÔÀ­¤Î¼ãǯÀ­°äÅÁÀ­ÆñÄ°¤ò¹çÊ»¤¹¤ë¤³¤È¤â¤¢¤ë¡£(ÇϤʤɸ¤°Ê³°¤Îưʪ¤Ç¤â°äÅÁ¤·¤ä¤¹¤¤)
¥ª¥¥¥·¡¼¥ì¥¹¥­¥å¡¼¥×¥í¥¸¥§¥¯¥È¤µ¤Þ
¾ïÀ÷¿§ÂΡ¢unknown ¥Ý¥¤¥ó¥¿¡¼
477 Neuroaxonal dystrophy
¿À·Ð¼´ºö¥¸¥¹¥È¥í¥Õ¥£¡¼
½ÅÅ٤α¿Æ°¼ºÄ´¡¢½ÐÀ¸»þ¤Î´ØÀá¹´½Ì¡¦¾®Ç¾¤ÈÀÔ¿ñ¤Î·ÁÀ®ÉÔÁ´¡¦ÇÙ¤âÄã·ÁÀ®¤Ê¤¿¤á¸ÆµÛÉÔÁ´¤Ë¤è¤ë»à»º¡¦¿·À¸»ù»àË´(ÂÛÆ°¤â¾¯¤Ê¤¤)¡£Æ¬Éô¤Î¿ÌÀï¡¢»ëÎϾ㳲¡¢¤Æ¤ó¤«¤ó(¥ß¥ª¥¯¥í¡¼¥Ì¥¹) Gene: MFN2
¦׿¾É¤äɨ¤Î秤¬Çö¤¤¤³¤È¤â¿ÇÃǤνõ¤±¤È¤Ê¤ë¡£ ¡¦À¸¸å3.5¥ö·î°ÊÁ°¤Ë¿À·Ð¼´º÷¥¸¥¹¥È¥í¥Õ¥£¡¼¤òȯ¾É¤·¤¿¥Ñ¥Ô¥è¥ó¤ÎÆ°²è¡¡http://www.pet-honpo.com/cap/sinkeikakuron/dai2kaipeji.html
AR G¥·¥å¥Ê¡¢¥Ñ¥Ô¥è¥ó¡¢¥í¥Ã¥È
478 Neuroaxonal dystrophy, juvenile
¼ãǯÀ­¿À·Ð¼´º÷¥¸¥¹¥È¥í¥Õ¥£¡¼
¿À·Ð¼´ºö¥¸¥¹¥È¥í¥Õ¥£¡¼»²¾È Gene: TECPR2
Êâ¹Ô°Û¾ï¤ä¹ÔÆ°¾ã³²¤ò´Þ¤àÍÍ¡¹¤Ê¿À·Ð³ØŪ·ç»
AR ¥¹¥Ñ¥Ë¥Ã¥·¥å¥¦¥©¡¼¥¿¡¼¥É¥Ã¥°
479 Neuroaxonal dystrophy, PLA2G6-related
PLA2G6´ØÏ¢·¿¡¡¿À·Ð¼´º÷¥¸¥¹¥È¥í¥Õ¥£¡¼
¿À·Ð¼´ºö¥¸¥¹¥È¥í¥Õ¥£¡¼»²¾È Gene: PLA2G6
Êâ¹Ô°Û¾ï¤ä¹ÔÆ°¾ã³²¤ò´Þ¤àÍÍ¡¹¤Ê¿À·Ð³ØŪ·ç»
AR ¥Ñ¥Ô¥è¥ó
480 Neurodegenerative vacuolar storage disease
¡ö¡ö¡ö¿À·ÐÊÑÀ­
* Gene: ATG4D
AR ¡ö
481 Neurogenic muscular atrophy
¿À·Ð¸¶À­¶Ú°à½Ì¾É
¤Ä¤Þ¤Å¤­¡¢Êâ¹Ôº¤Æñ¡¢»Í»è¤¬ºÙ¤¯¤ä¤ï¤é¤«¤¤¡¢»Í»è¤ÎºÙ¤«¤¤¿Ì¤¨ ¶ÚÆù¤Îµ¡Ç½¾ã³²¡£°äÅÁÀ­¿Ê¹ÔÀ­¿À·Ð¸¶À­¶Ú°à½Ì¾É¡£À¸¸å13½µº¢¤«¤é¾É¾õ¤¬½Ð»Ï¤áÂνÅÁý²Ã¤Î»ß¤Þ¤ë6¥ö·îº¢¤Ë¤Ïɵ¤¤Î¿Ê¹Ô®ÅÙ¤¬¤¤¤Ã¤¿¤óÃÙ¤¯¤Ê¤ë¤¬Ä̾ï¤ÎÈ¿¼Í¿À·Ð¤â½ù¡¹¤Ë¸º¾¯¤·Áá´ü»àË´¤Ë¤¤¤¿¤ë ¾ïÀ÷¿§ÂÎÀ­¡¢unknown
AR¤«
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482 Neurological syndrome
¿À·ÐÀ­¾É¸õ·²
¾®Ç¾¾É¾õ À¸¸å3¡Á4½µ¤Çȯ¾É¡¢¼Ð·Û¡¢ÀéĻ­¡¢»ÑÀª¤¬·ø¤¤¡¢Æ¬¤¬Ä㤤°ÌÃ֤ˤ·¤«»ý¤Á¾å¤¬¤é¤Ê¤¤¡¢ÈáÌÄ¡¢¶Ú¶ÛÄ¥¤ÎÁÓ¼º¡¡¢ª¡¡À¸¸å5¡Á6½µ¤Ç¿²¤¿¤­¤ê
2013/9NEW
AR G¥»¥Ã¥¿¡¼
483 Neuronal abiotrophy
¿À·ÐºÙ˦¥¢¥Ó¥ª¥È¥í¥Õ¥£
µÞ®¤Ë¿Ê¹Ô¤¹¤ë»Í»èÁ´Éô¤ÎËãáã¡¢»Í»è¤ÈƬÉô¤Î¿¶Àï¡¢µ¯Î©ÉÔǽ¤Î¸åÆó¼¡Åª¼À´µ¤ä´¶À÷¾É¤Ç»àË´ ÊÌ̾¥¦¥§¥ë¥É¥Ë¥Ã¥Ò¥Û¥Õ¥Þ¥óÉ¡¢¥¢¥Ó¥ª¥È¥í¥Õ¥£¤ÏºÙ˦³èÎÏ¿êÈù(ľÌõ¤¹¤ë¤È̵À¸³èÎÏ)¡£¿À·ÐºÙ˦¤ÎµÞ®¤ÊÏ·²½¤äÊÑÀ­¤¬¸¶°ø unknown ¥±¥ê¡¼¥Ö¥ë¡¼
484 Neuronal ceroid lipofuscinosis, 1
¿À·Ð¥»¥í¥¤¥É¥ê¥Ý¥Õ¥¹¥Á¥ó¾É1·¿
Ä̾ÎCL¾É
À¸¸å7¥ö·îº¢¤«¤é9¥ö·îº¢¤Þ¤Ç¤Ë¹ÔÆ°¤ÎÊѲ½¡¢¿À·Ð²áÉÒ¡¢¸«Åö¼±¾ã³²¡¢±¿Æ°¼ºÄ´¡¢Ã¦ÎÏ´¶¡¢¸å׿¾É¡¢Êâ¹Ô¤Î¹äÀ­¡¢À©¸æÉÔǽ¤Ê¥ê¥º¥ß¥«¥ë¤ÊƬ¤ÎÆ°¤­¡¢»ë³Ð¾ã³²(ÌÖËì·ì´É¤ÎÊÑÀ­) Genes:PPT1
¥é¥¤¥½¥¾¡¼¥à¼À´µ¡£NCL1¤¬Ãø¤·¤¯·ç»¤·¥Ñ¥ë¥ß¥È¥¤¥ë¥×¥í¥Æ¥¤¥ó¥Á¥ª¥¨¥¹¥Æ¥é¡¼¥¼¡ÊPPT1¡Ë¤Î³èÆ°¤Ë¤è¤Ã¤Æ°ú¤­µ¯¤³¤µ¤ì¤ë¥À¥Ã¥¯¥¹¥Õ¥ó¥È¤Î°äÅÁÀ­¼À´µ
AR ¥À¥Ã¥¯¥¹¤Î¤ß
485 Neuronal ceroid lipofuscinosis, 10
¿À·Ð¥»¥í¥¤¥É¥ê¥Ý¥Õ¥¹¥Á¥ó¾É10·¿
Ä̾ÎCL¾É
2ºÐÁ°¤«¤é¬Äê²áÂç¾É¡¢Â¬Äê¾ã³²¡¢Ëãáã¡¢±¿Æ°¼ºÄ´¡¢¤ª¤è¤Ó¿Ê¹ÔÀ­Àº¿À±¿Æ°¤ÎÊÑÀ­ Genes:CTSD
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AR ¥¢¥á¥ê¥«¥ó¥Ö¥ë¥É¥Ã¥°¤Î¤ß
486 Neuronal ceroid lipofuscinosis, 12
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ÃæÄøÅ٤λëÎϾ㳲¡¢¹ÔÆ°¤ÎÊѲ½¡¢Ç§Ãε¡Ç½¤ÎÄã²¼¡¢¾®Ç¾¼ºÄ´¡¢ÃÔÊò¡¢¤Æ¤ó¤«¤óÍÍȯºî¡¢¿À·Ð²áÉÒ¡¢¹¶·âÀ­¡¢µ­²±ÁÓ¼º¡¢»É·ã¤ËÂФ¹¤ë²áÉÒÀ­¡¢¿Ì¤¨ Genes: ATP13A2
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487 Neuronal ceroid lipofuscinosis, 2
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AR ML¥À¥Ã¥¯¥¹
488 Neuronal ceroid lipofuscinosis, 4A
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¥é¥¤¥½¥¾¡¼¥à¼À´µ¡£5ºÐ¤Ê¤ÉÃÙ¤¯¤Ë¾É¾õ¤¬½Ð¤ë¤¬È¯¾É¸å¤Ï»àË´¡£2010ǯ¤ÎÄ´ºº¤Ç¤Ï¥¢¥á¥ê¥«¤È¥Õ¥é¥ó¥¹¤Î¥¢¥à¥¹¥¿¤Î50%¤¬¥­¥ã¥ê¥¢¡¼¤Ç¤¢¤Ã¤¿¡£9ÈÖÀ÷¿§ÂÎñ°ì¤ÎÎΰ衩Kufs' disease»²¾È
AR ¥¢¥á¥ê¥«¥ó¥¹¥¿¥Ã¥Õ¥©¡¼¥É¥·¥ã¡¼¥Æ¥ê¥¢¤Î¥Õ¥é¥ó¥¹·ìÅý
489 Neuronal ceroid lipofuscinosis, 5
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¿Ê¹ÔÀ­»ëÎϾ㳲¡¢Â¿Æ°¡¢Ç§Ãξɡ¢¹¶·âÀ­¡¢¶¨Ä´¤ÎÁÓ¼º¡¢±¿Æ°¼ºÄ´ Genes:cln5
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AR ¥Ü¡¼¥À¡¼¥³¥ê¡¼
490 Neuronal ceroid lipofuscinosis, 6
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¿Ê¹ÔÀ­»ëÎϾ㳲¤Î¸å¼ºÌÀ¡¢Ç§Ãα¿Æ°¤ÎÊÑÀ­¡¢Àû²ó¡¢¶¨Ä´±¿Æ°¼ºÄ´ Gene: CLN6
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AR A¥·¥§¥Ñ
491 Neuronal ceroid lipofuscinosis, 7
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AR ¥Á¥ã¥¤¥¯¥ì
492 Neuronal ceroid lipofuscinosis, 8
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AR E¥»¥Ã¥¿¡¼
493 Neuronal Ceroid Lipofuscinosis, generic
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AR ¥»¥Ã¥¿¡¼¡¢¥Ü¡¼¥À¡¼¥³¥ê¡¼¡¢¥´¡¼¥ë¥Ç¥ó¥ì¥È¥ê¥Ð¡¼¡¢¥ª¡¼¥¹¥È¥é¥ê¥¢¥ó¥­¥ã¥È¥ë¥É¥Ã¥°¡¢¥µ¥ë¡¼¥­¡¢¥Á¥ï¥ï¡¢¥Á¥Ù¥¿¥ó¥Æ¥ê¥¢¡¢¥À¥Ã¥¯¥¹¥Õ¥ó¥É¡¢¥ß¥Ë¥Á¥å¥¢¥·¥å¥Ê¥¦¥¶¡¼
494 Neuronal vacuolar disorder
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495 Neuronopathy, progressive
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496 Neuropathy, giant axonal
*µðÂç¼´º÷·¿¿À·Ð¾ã³²
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497 Neuropathy, hypertrophic
*ÈîÂçÀ­¿À·Ð¾ã³²
Íĸ¤»þ¤ÎµÞ®¤Ê¿Ê¹ÔÀ­¤Î¶ÚÎÏÄã²¼¤È´¶³Ð¤Î¾Ã¼º ¥Ë¥å¡¼¥í¥Ñ¥Á¡¼¤Ï¿À·ÐÊÑÀ­¼À´µ¡£¥Ò¥È¤Î°äÅÁÀ­¥Ë¥å¡¼¥í¥Ñ¥Á¡¼­··¿¥Ç¥¸¥§¥ê¥ó-¥½¥Ã¥¿¥¹É¤ÈƱ¤¸¤« ¾ïÀ÷¿§ÂÎÀ­¡¢unknown ¥Á¥Ù¥¿¥ó¥Þ¥¹¥Á¥Õ
498 Neuropathy, peripheral
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499 Neuropathy, sensory
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* Gene: FAM134B
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500 Neuropathy, sensory ataxic
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