¸¤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¤Æ¤¤¤ë¸¤¼ï |
---|---|---|---|---|---|
401 |
Mammary tumour ÆýÁ£¼ðáç |
ÆýÁ£¤Î¼ðáç | ÉÔÇ¥½èÃ֤ˤè¤ëÀ¥Û¥ë¥â¥ó¤Î¶Ëü¤Ê¸º¾¯¾õÂÖ¤ÇËɤ²¤ë¾ì¹ç¤â¤¢¤ë¿ô¾¯¤Ê¤¤°äÅÁÉ¡£È¯¾ÉǯÎð¤äÎÉÀ°À¤Ë´Ø¤·¤Æ¤â²È²À¤¬¤¢¤ë¤è¤¦¤À | unknown | ¿ |
402 |
Mast cell tumour ÈîËþºÙ˦¼ð |
ÈéÉæ¤äÈé²¼¤Ë¤Ç¤¤ëÈîËþºÙ˦¤Î¼ðáç | °À¼ðáç¡£ÈîËþºÙ˦¡Ê¤Ò¤Þ¤ó¤µ¤¤¤Ü¤¦¡Ë¤ÏÓ®ÆýÎà¤ÎÇ´Ëì²¼ÁÈ¿¥¤ä·ë¹çÁÈ¿¥¤Ê¤É¤Ë¸ºß¤¹¤ë¤·ì´´ºÙ˦ͳÍè¤ÎºÙ˦¡£¥é¥ó¥²¥ë¥Ï¥ó¥¹ºÙ˦¤È¤È¤â¤Ë±ê¾É¤äÌȱÖÈ¿±þ¤Ê¤É¤ÎÀ¸ÂÎËɸ浡¹½¤Ë½ÅÍפÊÌò³ä¤ò»ý¤Ä¡£Á餻¤Æ¤¤¤ë¡¦ÂÀ¤Ã¤Æ¤¤¤ë¡¢¤Î¡ÖÈîËþ¡×¤È¤ÏÊÌ | unknown | ¿ |
403 |
Masticatory muscle myositis ÒòÓð¶Ú±ê |
¸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 µðÂç·ì¾®ÈÄ¡¢·ì¾®Èĸº¾¯¡¢Çò·ìµåÉõÆþÂΤ¬ÆÃħ |
AD¤« | ¥Ñ¥° |
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¤òͤ¹¤ë¤¬¡¢´ûÃΤθ¶°ø°ø»Ò¤È¼À´µ¤È¤Î´Ø·¸¤Ï2013ǯ¸½ºß²òÌÀ¤µ¤ì¤Æ¤¤¤Ê¤¤¡£¼£ÎŤϳ°²Ê¼ê½Ñ¿ä¾© 2013/9NEW |
unknown | ¥é¥Ö¡¢¥´¥ë |
406 |
Megakaryoblastic leukaemia µð³Ë²êµåÇò·ìÉ |
¿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¤Τ¿¤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 ÀèÅ·À°À¹õ¿§¼ð |
¥á¥é¥Î¥µ¥¤¥ÈͳÍè¤Î°À¼ðáç | À¸¤Þ¤ì¤Ä¤Æ¬Éô¤Ë±ß·Á¤ÎÄÙáçÀÉÂÊѤòͤ¹¤ë¥ª¥¹¤Î»¨¼ï¤ÎÊó¹ð¡Ê2016ESVD¤ÈACVD¡Ë¡£12ÆüÎð¤Þ¤Ç¤ËÉÂÊѤÏÃø¤·¤¯À®Ä¹¤·Ê£¿ô¤ÎÆð¼Á¤Î´Ý¤¤¾®·ëÀ᤬¼ª¤Î³°Â¦´ðÉô¤Ë°ÌÃÖ¤·¤Æ¤¤¤¿¡£¼ðáç¤ÏµÞ®¤Ë¿Ê¹Ô¤·£¶¥õ·î»þ¤ËµÞ»à¡¢Ç٤ȿ´Â¡¤È¥ê¥ó¥ÑÀá¤Ëž°Ü¤·¤Æ¤¤¤¿ | unknown | * |
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¥±¥¹É |
ȯãÃٱ䡢ÄãÂβ¹¡¢¤±¤¤¤ì¤óȯºî¡¢¶ÚÎÏÄã²¼¡¢½ÌÌÓ |
Genes: 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 |
XR | * |
411 |
Metabolizer of a congitive enhancer ???Ìô¤ÎÂå¼ÕǽÎÏ |
* |
Gene: CYP1A2 ¥¿¥ó¥Ñ¥¯·ç»¾É¤Î¤³¤È¤Î¤è¤¦¤À¡£Ç§ÃÎÁý¶¯ºÞAC-3933¤òÂå¼Õ¤¹¤ëǽÎϤο·¿¤ÎÊó¹ð |
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 ¾®´ãµå¾É |
ÊÒÊý¤«Î¾Êý¤Î´ãµå¤¬¾®¤µ¤¤¾õÂÖ¡£¼å»ëÎϤ«¤éÁ´ÌդޤǤµ¤Þ¤¶¤Þ | Microphthalmia²èÁü¸¡º÷¤Ç°ìȯ¤Ç¾É¾õ¤¬°û¤ß¹þ¤á¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
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¡£ ¶Ú°à½ÌÀ¦º÷¹Å²½¾É(ALS¡§¥ë¡¼¡¦¥²¡¼¥ê¥Ã¥¯É¡¤¥·¥ã¥ë¥³¡¼¾É¸õ·²)¡¢¿Ê¹ÔÀ¶Ú°à½Ì¾É¡¢¸¶È¯À¦º÷¹Å²½¾É¡¢¿Ê¹ÔÀµåËãáã¡¢¿Ê¹ÔÀ²¾ÀµåËãáã |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥µ¥ë¡¼¥ |
419 |
Motor neuron disease, lower ²¼°Ì±¿Æ°¿À·Ð(¥Ë¥å¡¼¥í¥ó)¼À´µ |
Óë²¼¾ã³²¡¢´éÌ̤Ȼͻè¤Î¶Ú¤±¤¤¤ì¤ó¡¢¶ÚÎÏÄã²¼ | ²¼°Ì¥Ë¥å¡¼¥í¥ó¼À´µ¤Î¶ÚÎÏÄã²¼¤Ï¾É¾õ¤¬¥ß¥ª¥Ñ¥·¡¼¤È»÷¤ë¤¬ÊÌ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ö¥ê¥å¥Ã¥»¥ë¥°¥ê¥Õ¥©¥ó |
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¤¦¤ÊÊâ¤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 ·ç»¹ÚÁǤÏIII-B·¿¡§¦Á-N-¥¢¥»¥Á¥ë¥°¥ë¥³¥µ¥ß¥Ë¥À¡¼¥¼ |
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礤ÊƬÉô¡¦¤½¤Î¸¤¼ï¤ÎÄ̾ï¤Î»Ò¸¤¤ÎȾʬÄøÅÙ¤ÎÂ礤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 |
¿ȯÀÃæ¿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¤ÎÍ̵(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¥ÒÉ |
À¸¸å¤¹¤°¤«¤éÁ´ÈÌÀ¤Î¶ÚÎÏÄã²¼¤È¶Ú°à½Ì¡¢¸Ô´ØÀáæ±± | ¼ê¤αó°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¶Ú̵ÎÏ¾É |
´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¥ÕÍÛÀʪ¼Á¤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 |
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 | AR | ¥°¥ì¥Ç¥ó |
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¤òͤ¹¤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¡¢°ìÈ̤ËËýÀŪ¤ÊÍͼ°¤Ç¸ºß¤¹¤ë¡£±ê¾ÉÀ¥ß¥ª¥Ñ¥Á¡¼¤Î¤Û¤È¤ó¤É¤Ï¡¢°ÀÉÂÊѤȤδØÏ¢¤òͤ¹¤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»àÀǾÀÔ¿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礤¯¤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 | ¿°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 * |
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¤« |
E¥Ý¥¤¥ó¥¿¡¼ |
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 ¥é¥¤¥½¥¾¡¼¥à¼À´µ¡£Â¾¤ÎCLɤ˸«¤é¤ì¤Æ¤¤¤ëǾµ¡Ç½¾ã³²¤ä¼ºÌÀ¤Ïµ¯¤³¤é¤Ê¤¤¤¬7ºÐ¤Þ¤Ç¤Ë¤Ï»àË´ |
AR | ¥¢¥á¥ê¥«¥ó¥Ö¥ë¥É¥Ã¥°¤Î¤ß |
486 |
Neuronal ceroid lipofuscinosis, 12 ¿À·Ð¥»¥í¥¤¥É¥ê¥Ý¥Õ¥¹¥Á¥ó¾É12·¿ Ä̾ÎCL¾É |
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 ¥é¥¤¥½¥¾¡¼¥à¼À´µ¡£4ºÐ¡Á6ºÐ¤Ëȯ¾É¡¢È¯¾É¸å¤ÏÁá´ü»àË´ |
AR | ¥Á¥Ù¥¿¥ó¥Æ¥ê¥¢ |
487 |
Neuronal ceroid lipofuscinosis, 2 ¿À·Ð¥»¥í¥¤¥É¥ê¥Ý¥Õ¥¹¥Á¥ó¾É2·¿ Ä̾ÎCL¾É |
¿Ê¹ÔÀ¤Î»ëÎÏÄã²¼¡¢¶¼°Ò¤Î±þÅú¡¢Æ¬Éô¤Î¿¶Àï¡¢¥ß¥ª¥¯¥í¡¼¥Ì¥¹¡¢¾®Ç¾À±¿Æ°¼ºÄ´¡¢Â¿Æ°¡¢¹¶·âÀÁý²Ã¡¢°ÕÌ£¤¬¤ï¤«¤é¤Ê¤¤Ëʤ¨ |
Genes: ¥é¥¤¥½¥¾¡¼¥à¼À´µ¡£À¸¸å6¡Á7¥ö·î¤Ë¿Ê¹ÔÀ¤Î»ëÎϾ㳲¤¬»Ï¤Þ¤ë¡¢8¥ö·îº¢¤Ë¥ß¥ª¥¯¥í¡¼¥Ì¥¹¤Æ¤ó¤«¤ó¡¦Æ¬Éô¿¶Àï¡¢9¥ö·îº¢¤«¤é¾®Ç¾À±¿Æ°¼ºÄ´¡¢µÞ®¤Ë¿Ê¹Ô¤·¤Æ1ºÐ¤Þ¤Ç¤Ë»àË´ ¥Ò¥ÈCLN2¤Î¥ª¥ë¥½¥í¥°(¶¦ÄÌÁÄÀè¤ò»ý¤Ä°Û¼ï´Ö¤ÎÁêƱ°äÅÁ»Ò)¡¡ |
AR | ML¥À¥Ã¥¯¥¹ |
488 |
Neuronal ceroid lipofuscinosis, 4A ¿À·Ð¥»¥í¥¤¥É¥ê¥Ý¥Õ¥¹¥Á¥ó¾É4A·¿ Ä̾ÎCL¾É |
¿Ê¹ÔÀ»ëÎϾ㳲¡¢¹ÔÆ°¤ÎÊѲ½¡¢Àº¿À¤Î°²½¡¢Ç§Ãα¿Æ°¤ÎÊÑÀ¡¢±¿Æ°¼ºÄ´¡¢¤Æ¤ó¤«¤óÍÍȯºî |
Genes: ¥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 ¿À·Ð¥»¥í¥¤¥É¥ê¥Ý¥Õ¥¹¥Á¥ó¾É5·¿ Ä̾ÎCL¾É |
¿Ê¹ÔÀ»ëÎϾ㳲¡¢Â¿Æ°¡¢Ç§Ãξɡ¢¹¶·âÀ¡¢¶¨Ä´¤ÎÁÓ¼º¡¢±¿Æ°¼ºÄ´ |
Genes:cln5 ¥é¥¤¥½¥¾¡¼¥à¼À´µ¡£2ºÐÁ°¸å¤Çȯ¾É¤·¡¢3ºÐ¤Þ¤Ç¤Ë»àË´ |
AR | ¥Ü¡¼¥À¡¼¥³¥ê¡¼ |
490 |
Neuronal ceroid lipofuscinosis, 6 ¿À·Ð¥»¥í¥¤¥É¥ê¥Ý¥Õ¥¹¥Á¥ó¾É6·¿ Ä̾ÎCL¾É |
¿Ê¹ÔÀ»ëÎϾ㳲¤Î¸å¼ºÌÀ¡¢Ç§Ãα¿Æ°¤ÎÊÑÀ¡¢Àû²ó¡¢¶¨Ä´±¿Æ°¼ºÄ´ |
Gene: CLN6
¥é¥¤¥½¥¾¡¼¥à¼À´µ¡£È¯¾ÉǯÎð¤Ï2ºÐÁ°¤¯¤é¤¤ |
AR | A¥·¥§¥Ñ |
491 |
Neuronal ceroid lipofuscinosis, 7 ¿À·Ð¥»¥í¥¤¥É¥ê¥Ý¥Õ¥¹¥Á¥ó¾É7·¿ Ä̾ÎCL¾É |
* |
Genes:CLN8 ¥é¥¤¥½¥¾¡¼¥à¼À´µ |
AR | ¥Á¥ã¥¤¥¯¥ì |
492 |
Neuronal ceroid lipofuscinosis, 8 ¿À·Ð¥»¥í¥¤¥É¥ê¥Ý¥Õ¥¹¥Á¥ó¾É8·¿ Ä̾ÎCL¾É |
¿Ê¹ÔÀ»ëÎϾ㳲¡¢¤Æ¤ó¤«¤óÍÍȯºî¡¢¿À·Ð¾ã³² |
Genes:CLN8 ¥é¥¤¥½¥¾¡¼¥à¼À´µ¡£È¯¾É¸åÁá´ü»àË´ |
AR | E¥»¥Ã¥¿¡¼ |
493 |
Neuronal Ceroid Lipofuscinosis, generic ¿À·Ð¥»¥í¥¤¥É¥ê¥Ý¥Õ¥¹¥Á¥ó¾É Ä̾ÎCL¾É |
°Û¾ï¹ÔÆ°¡¢Ç§Ãξɡ¢»ëÎϤÎÄã²¼¡¢±¿Æ°¾ã³²¤äáÛڻȯºî¡¢Áá´ü»àË´ |
Genes:cln5,CLN8 ¥é¥¤¥½¥¾¡¼¥à¼À´µ¡£CLɤΤޤȤá¤Î¤è¤¦¤Ê¹àÌÜ |
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 ¿À·Ð±Õ˦¾ã³² |
½ÅÅÙ¤Îìì¹Ô¡¢Á´¿È¿ê¼å¡¢¶ÚÆù¤Î¤±¤¤¤ì¤ó¡¢Óë²¼¾ã³²(¿©¤Ù¤¿¤ê°û¤ó¤À¤ê¤¬²¼¼ê)¡¢¸ÆµÛº¤Æñ |
¿À·ÐÁÈ¿¥¤Ë¶õ˦¤¬·ÁÀ®¤µ¤ì¤ë¤³¤È¤ÇÀ¸¸å6½µ¤Ë¤ÏºÇ½é¤ÎÃû¸õ¤¬¸½¤ì¤ë¡£6½µ¤Ç¤ÏÆ°¤¤¬Á᤯¤Ê¤Ã¤¿¤êÃÙ¤¯¤Ê¤Ã¤¿¤ê¤Þ¤È¤Þ¤ê¤Î¤Ê¤¤¹ÔÆ°¡¢7¡Á8½µ¤Ç¤Ï»Í»è(¤È¤¯¤Ë¸å»è)¤Î¼å¤µ¡¦Á´¿È¤Î¿ê¼å¡¢¤®¤³¤Á¤Ê¤¤³¬Ãʾº¹ß¡£µðÂç¿©Æ»¤ò¹çÊ»¤¹¤ë¤³¤È¤â¤¢¤ë
ÅìµþÂç³ØÂç³Ø±¡ÇÀ³ØÀ¸Ì¿²Ê³Ø¸¦µæ²Ê½Ã°å³Ø¡¦±þÍÑưʪ²Ê³ØÀ칶¥Û¡¼¥à¥Ú¡¼¥¸¤µ¤Þ¡Ö»º¶Èưʪ¤Î¿À·Ð·Ï¼À´µ¤ÎÉÂÍý¡Á³¤³°¾ÉÎã¤òÃæ¿´¤Ë¡Á¡× |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥í¥Ã¥È |
495 |
Neuronopathy, progressive ¿Ê¹ÔÀ¿À·ÐºÙ˦¾ã³² |
¸å»è¤¬¼å¤¤¡¢»Í»è¤ÎæÎÏ¡¢Å¾ÅÝ¡¢Êâ¹Ô¾ã³² | ÊÌ̾¿·ÏÅýÀ÷¿§¼ÁÍϲò¿À·ÐÊÑÀ¡£ÀÔ¿ñ¤ÈǾ¤ÎÎΰè¤Ë±Æ¶Á¤òÍ¿¤¨¤ë¿À·ÐºÙ˦¤Î¾ã³²¡£À¸¤Þ¤ì¤Ä¤È¯¾É¤·¤Æ¤¤¤Æ±¿Æ°Î̤¬Áý¤¹À¸¸å12¡Á14½µº¢¤Ë¶ÚÆù³èÆ°¤ÎÄ´À°¤¬¤Ç¤¤Ê¤¤¤³¤È¤Ëµ¤ÉÕ¤¯¡¢¿ô½µ´Ö¡Á¿ô¥ö·î»Í»è¤ÎæÎϤ¬µ¯¤³¤ë¤³¤È¤â¤¢¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥±¥¢¥ó¥Æ¥ê¥¢ |
496 |
Neuropathy, giant axonal *µðÂç¼´º÷·¿¿À·Ð¾ã³² |
¸å»è¤¬¼å¤¯¤Ä¤ÞÀè¤ò°ú¤À¢¤ë¡¢Êâ¹Ôº¤Æñ¡¢µ¯Î©º¤Æñ¡¢¿©Æ»¤Î¶ÚÄã²¼¤Î¤¿¤áÓÒÅÇ(̤¾Ã²½¤Î¿©Êª¤ÎµÕή) | Ǿ¡¢ÀÔ¿ñ¡¢¿À·Ð¤Ç¡¢¿À·Ð·Ï¤Î¹ÈϤʰ۾ï¤ò°ú¤µ¯¤³¤¹¡£¸¤¤Î¶»¤Ë¼ª¤òÅö¤Æ¤¿»þ±ÕÂΤ¬Î®¤ì¤ë²»¤¬¶¯¤¤¡£¤Ä¤ÞÀè¤Î°ú¤À¢¤ê¤ÏÀ¸¸å15¥ö·îÁ°¸å¤Ë¸«¤é¤ì¾ã³²¤µ¤ì¤¿¶ÚÆù¤Î¶¨Ä´¤Ë´Ø¤¹¤ëÉôʬŪ¤ÊËãá㤬¤æ¤Ã¤¯¤ê¿Ê¹Ô¸å¶ÚÆù¤ÎÎô²½¡¦µ¯Î©º¤Æñ¡£ÓÒÅǤÏ16¥ö·î¡Á21¥ö·î¡¢19¥ö·î¤Çɨ³¸ç§È¿¼Í¤Î¸º¾¯¡¦23¥ö·î¤ÇÈ¿¼ÍÁÓ¼º¡£21¥ö·îº¢Êؼº¶Ø(ç¯æù¤Î¥³¥ó¥È¥í¡¼¥ë¤Ï¤Ç¤¤ë)¡£ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
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 Ëö¾¿¿À·Ð¾ã³²¡¢Ëõ¾ÃÀ¥Ë¥å¡¼¥í¥Ñ¥Á¡¼ |
¤æ¤Ã¤¯¤ê¤·¤¿¿Ê¹ÔÀ¤Î¶ÚÎÏÄã²¼¡¢¤ª¤Ü¤Ä¤«¤Ê¤¤Â¼è¤ê¡¢¶Ú¶ÛÄ¥¡¦¿Ì¤¨¡¦·Ú¤¤Ëãáã¡¢»Í»è¤Î´¶³Ð¿À·Ð¾ã³²¤Ë¤è¤ë¼«½ý¡¢Á´¿È¤Î¿ê¼å | 3Ƭ¤Î¥¸¥ã¡¼¥Þ¥ó¥·¥§¥Ñ¡¼¥É¤ÎƱÂÛ·»Ä︤¤¬10ºÐ¤Çȯ¾É¤·¤¿Î㤬¤¢¤ë | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | G¥·¥§¥Ñ |
499 |
Neuropathy, sensory ´¶³Ð¥Ë¥å¡¼¥í¥Ñ¥Á¡¼ |
* |
Gene: FAM134B * |
AR | ¥Ü¡¼¥À¡¼ |
500 |
Neuropathy, sensory ataxic ´¶³Ð¼ºÄ´À¥Ë¥å¡¼¥í¥Ñ¥Á¡¼ |
* |
Gene: tRNA-Tyr * |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥´¡¼¥ë¥Ç¥ó |