¸¤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 |
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301 |
Hernia, perineal ²ñ±¢¥Ø¥ë¥Ë¥¢ |
²ñ±¢Éô¤Î¶ÚÆù¤Î´Ë¤ß¤Ë¤è¤ê·ê(¥Ø¥ë¥Ë¥¢¹¦)¤«¤é¡´ï(IJ¤äç¯æù)¤¬½Ð¤ÆÄˤߡ¢ÇÓÇ¢¡¦ÇÓÊؾ㳲¤òµ¯¤³¤¹ | °äÅÁŪÁÇ°ø¤ò»ý¤Ã¤¿Ì¤µîÀª¤Ç5ºÐ°Ê¾å¤Î¥ª¥¹¤Ë¿¤¤¡£Â¿¤¯¤¬Å¬Àڤʻþ´ü¤ÎµîÀª¼ê½Ñ¤ÇËɤ²¤ë | unknown | ¿ |
302 |
Hernia, scrotal ±¢Ç¹¥Ø¥ë¥Ë¥¢ |
±¢Ç¹Æâ¤ËIJ´É¤¬Ã¦½Ð¤·¤¿¾õÂ֤ǵ©¤ËÄˤߤäÊâ¹Ôº¤Æñ¡£ÊüÃÖ¤¹¤ë¤ÈÀº»Ò¤¬ºî¤é¤ì¤Ê¤¯¤Ê¤ë¡£ | Áͷ¥إë¥Ë¥¢¤Î¿Ê¹Ô·Á¡£Ä²´É¤¬¥Ø¥ë¥Ë¥¢¹¦¤òÄ̤äƱ¢Ç¹Æâ¤ËÆþ¤Ã¤¿¾õÂÖ¡£¾É¾õ¤¬½Ð¤Ë¤¯¤¤¤¿¤á¸«¤¿ÌܤǤϤ狼¤ê¤Ë¤¯¤¯¡¢¸¶°øÉÔÌÀ¤ÎÉÔÇ¥¾É¤È¤¤¤Ã¤¿¿ÇÃǤˤĤʤ¬¤ë¤³¤È¤â¤¢¤ë¡£ | unknown | * |
303 |
Hernia, umbilical çÁ¥Ø¥ë¥Ë¥¢ |
¤Ø¤½¤Î¤Ç¤Ã¤Ñ¤ê¡¢¼ð¤ì¡¢·Ú¾É¤Ç¤¢¤ì¤Ð²¡¤¹¤È°ú¤Ã¹þ¤à |
ËÜÍèÊĤ¸¤ë¤Ù¤çÁÎؤ¬Êĺ¿¤µ¤ì¤Æ¤¤¤Ê¤¤¤¿¤á¡¢Ê¢Ë줬Èé²¼¤Ëæ½Ð¤·¤ÆÂÞ¾õ¤Ë¤Ê¤ë¤â¤Î¡£¤Ç¤Ù¤½¡£çÁ¥Ø¥ë¥Ë¥¢¤À¤±¤ÎñÆȤǤϤʤ¤¾ì¹ç¤â¿¤¤¡£(»Ò¸¤¤Î¤¦¤Á¤«¤éÂ礤¯ÌÜΩ¤Ã¤Æ¤¤¤ë¤â¤Î¤Ï¡¢Î㤨¤Ð·ç»õ¤ä±¢âдݤä¹ü³Ê°Û¾ï¤Ê¤ÉÂΤξ¤ÎÉôʬ¤Ë¤âÉÔÅԹ礬¤¢¤ë¤³¤È¤¬Â¿¤¤) ¥Ø¥ë¥Ë¥¢ÎؤÎÂ礤ʸ¤¤Î½Å¾ÉÎã¤Ç¤ÏIJ´É¤ä¤½¤Î¾Æ⡤¬ÉÑÈˤˤϤ߽Ф·¤ÆÖÈÆÜ(¤«¤ó¤È¤ó)¤òµ¯¤³¤¹¤È»à¤Ë»ê¤ë»ö¸Î¤Ë¤â·Ò¤¬¤ë¡£»Ò¸¤¤ÎÀèÅ·´ñ·ÁȯÀ¸Î¨¤Ç¤Ï¤½¤±¤¤¥Ø¥ë¥Ë¥¢¤Ë¼¡¤° |
unknown | ¿ |
304 |
Heterochromia °Û¿§¾É? |
* | * | unknown | * |
305 |
Heterochromia iridis ÆúºÌ°Û¿§¾É |
º¸±¦¤ÎÌܤÇÆúºÌ¤Î¿§¤¬°Û¤Ê¤ë¡¢¼ã¤·¤¯¤Ï°ìÊý¤ÎÆ·¤ÎÆúºÌ¤Î°ìÉô¤¬ÊÑ¿§ | #¥Û¥ë¥Í¥ë¾É¸õ·²¤ä#ÎÐÆâ¾ã¤Î¹çÊ»¾É¤Ê¤É¤È¤·¤Æ¸åŷŪ¤Ëȯ¾É¤¹¤ë¤³¤È¤â¤¢¤ë | unknown | * |
306 |
Hip dysplasia ¸Ô´ØÀá·ÁÀ®ÉÔÁ´ |
Ãʺ¹¤ò·ù¤¬¤ë¡¢¥â¥ó¥í¡¼¥¦¥©¡¼¥¯¡¢¤¦¤µ¤®Ä·¤ÓÍÍÊâÍÍ¡¢Êâ¹Ôº¤Æñ¡£¿¿¤Ãľ¤°¼«Á³¤Ëµ¯Î©¤·¤¿¾õÂ֤Dz£¤«¤é¸«¤ë¤È¼ê¤ÎÉÕ¤±º¬¤ÎÉý¤è¤ê¼êÂÀè¤ÎÉý¤¬¾®¤µ¤¤ |
¸Ô´ØÀá¤Î·ÁÂÖŪ¡Ê²ò˶³ØŪ¡Ë¤Ê°Û¾ï JAHD¡Ö¸Ô´ØÀá·ÁÀ®ÉÔÁ´¤È¤Ï¡× |
¿°ø»Ò¡Ü´Ä¶Í×°ø | * |
307 |
Histiocytosis, malignant °ÀÁÈ¿¥µå¾É |
¿©Í߸ºÂà¡¢¸µµ¤¾ÃÄÀ¡¢ÂνŸº¾¯ |
Genes: PTEN, RB1, CDKN2B, CDKN2A ͽ¸åÉÔÎÉ ÀÖ·ìµå¤Î²á¾ê¤Ê¿©¤Ë¤Ä¤Ê¤¬¤ëÁÈ¿¥¥Þ¥¯¥í¥Õ¥¡¡¼¥¸¤Î¼ðáçÁý¿£(µå)¤Ë¤è¤Ã¤ÆÆÃħ¤Å¤±¤é¤ì¤ë¼À´µ¡¢È¯¾ÉÊ¿¶ÑǯÎð¤Ï6ºÐ°Ê¹ß¡Ê1ºÐ¤ä2ºÐ¤Îȯ¾É¤â¤¢¤ë¡Ë¡¢¥ê¥Ã¥¿¡¼¡Ê°ìÊ¢»Ò¡Ë¤ËȯÀ¸¤·¤ä¤¹¤¤¡£¾ì½ê¤Ë¤è¤Ã¤Æ¤ÏÇ˹Ԥ¬¼ç¾É¾õ¤Ë¤Ê¤ë¤³¤È¤â |
¿°ø»Ò | ¥Ð¥Ë |
308 |
Hodgkin disease ¥Û¥¸¥¥óÉÂ,¥Û¥¸¥¥ó¥ê¥ó¥Ñ¼ð |
1¤«½ê¤Þ¤¿¤ÏÊ£¿ô¤Î¥ê¥ó¥ÑÀá¤Î¼ð¤ì¡¢¤«¤æ¤ß¡¢ÂνŸº¾¯¡¢´Î磼ð | °À¥ê¥ó¥Ñ¼ð¤Î°ì¼ï¡¢ÆÃħŪ¤ÊÆüì¤Ê¥¬¥óºÙ˦¤¬¸«¤é¤ì¤ë¡£¼ðÂ礷¤¿¥ê¥ó¥ÑÀ᤬ðôÉô¸ò´¶¿À·Ð¤äÈ¿²ó¹¢Æ¬¿À·Ð¤ò°µÇ÷¤¹¤ë¤È¥Û¥ë¥Í¥ë¾É¸õ·²#¤È¹¢Æ¬Ëãáã#¤¬µ¯¤³¤ë¤³¤È¤¬¤¢¤ë¡£¿À·Ðº¬¤Î°µÇ÷¤Ë¤è¤Ã¤Æ¿À·ÐÄˤ¬µ¯¤³¤ë | unknown | * |
309 |
Horner syndrome ¥Û¥ë¥Í¥ë¾É¸õ·² |
ðôÉô¸ò´¶¿À·Ð½ÐÎϤε¡Ç½ÉÔÁ´¤Ë¤è¤ë´ãâÛ²¼¿â¡¢½ÌÆ·¡¢´ãµå´ÙËס¢ÆúºÌ°Û¿§¾É | ½ÌÆ·¤ÏÆ·¹¦¤¬²áÅ٤˽̾®¤¹¤ë¸½¾Ý¡¢Æ·¹¦¤Ï°Å°Ç¤Î²¼¤Ç¤â²áÅ٤˶¹¤Þ¤Ã¤¿¤Þ¤Þ¡£´ãâÛ²¼¿â¤Ï¾å¤Þ¤Ö¤¿¤Îµ¡Ç½¤Ë¾ã³²¤¬À¸¤¸âÛ¤¬³«¤¤Ë¤¯¤¯¤Ê¤ë(1Æü¤Î¤¦¤Á¤Ç¾É¾õ¤Ëº¹¤¬¤¢¤ë)¡¢»ë³¦¤ÎÀ©¸Â¤ò̵°Õ¼±¤ËÄ´À°¤¹¤ë¤¿¤á¥Ò¥È¤Ç¤ÏƬÄˤ个¤³¤ê¤òµ¯¤³¤¹¤³¤È¤¬Â¿¤¤¡£ | unknown | ¥¨¥¢¥Ç¡¼¥ë¡¢¥´¥ë |
310 |
Hydranencephaly ¿å̵Ǿ¾É |
ÂçǾ¤¬Ìµ¤¤ |
Ä̾ï¤ÏÀ¸Â¸ÉÔǽ Ƭ³¸¡Ê¹ü¡Ë¤¬Àµ¾ï¤Ç¤¢¤ì¤Ðñ¤Ë¸¶°øÉÔÌÀ¤Îή»à»º¤ä¿·À¸»Ò»àË´¤È¤Ê¤ë¤À¤í¤¦¡£Î¾ÂçǾȾµå¤¬¤Û¤Ü´°Á´¤Ë·ç»¤¹¤ë¹¦Ç¾¾É¤Î¶Ëü¤Ê1¤Ä¤ÎÉ·¿ |
unknown | * |
311 |
Hydrocephalus ¿åƬ¾É |
ƬÈîÂ硢Ǿ¤Î°µÇ÷¡¢ÀèÅ·À¤Î¾ì¹ç¤Ï¤Û¤È¤ó¤É¤¬Àµ¾ï¤ËÀ®Ä¹¤·¤Ê¤¤ | Ǿ¤ÎÃæ¤Î¶õ´Ö(Ǿ¼¼)¤Çºî¤é¤ì¤¿Ç¾ÀÔ¿ñ±Õ(Ǿ¤Î¼þ°Ï¤Ë¤¢¤ë±ÕÂΤǷì±Õ¤ËµÛ¼ý¤µ¤ì¤ë)¤¬ËÜÍè¤Î¾ì½ê¤Ëή¤ì¤Ê¤¤¤³¤È¤Çµ¯¤³¤ë¡£¥Ò¥È¤Ç¤Ï¥·¥ã¥ó¥È¼ê½Ñ¤¬¤ª¤³¤Ê¤ï¤ì¤ë¤³¤È¤¬Â¿¤¤¤¬¸½ºß¸¤¤ÏÂоÉÎÅË¡(¥Æ¥ó¥«¥ó¤òÍÞ¤¨¤ë¤Ê¤É)¤¬¼çή | unknown | ¥´¥ë¡¢E¥Ö¥ë¡¢Ç |
312 |
Hydrocephalus, internal Æâ¿åƬ¾É |
Ʊ¾å | Ǿ¼¼Æâ¤Ë²á¾êÃùα¤·¤¿¾ì¹ç¤òÆâ¿åƬ¾É¡¢ÂçǾɽÌÌ ¤Ë²á¾êÃùα¤·¤¿¾ì¹ç¤ò³°¿åƬ¾É¤È¤¤¤¦¡£ | unknown | * |
313 |
Hydromelia *hydromyelia¤Ï¿åÀÔ¿ñ¾É |
* | ¸½ºß¥Ò¥È¤Î°åÎŤǤÏÀÔ¿ñ¶õƶ¾Ésyringomyelia¤ÈƱ¤¸¤â¤Î¤È¤·¤Æ°·¤ï¤ì¤Æ¤¤¤ë¤è¤¦¤À | unknown | * |
314 |
Hydrops foetalis ÂÛ»Ò¿å¼ð |
Âαդ¬ÂÎÆâ¤Ë²á¾ê¤ËÃßÀÑ¡¢ÂÛ»ùÉâ¼ð | Ä̾ï¤ÏÀ¸Â¸ÉÔǽ | unknown | ¥Ñ¥Ô¥è¥ó¡¢¥Ü¥¹¥Æ¥ê¡¢¥Ö¥ë¡¢à¾ |
315 |
Hyperadrenocorticism Éû¿ÕÈé¼Áµ¡Ç½Ð¶¿Ê¾É |
½é´ü¤Ï¿©Íߤä°û¿åÎ̤äÇ¢Î̤ÎÁý²Ã¡¢Ê¢ÉôËÄËþ¡¢º¸±¦ÂоݤÇáڤߤΤʤ¤Ã¦ÌÓ¤Ê¤É |
¥¯¥Ã¥·¥ó¥°¾É¸õ·²¡¢ÈéÉæ¿Å¸Àþ¾ò(¥Ò¥È¤ÎÇ¥¿±Àþ¤Î¤è¤¦¤Ê¤â¤Î)¤äÈéÉ椬Àȼå¤Ë¤Ê¤ë¤³¤È¤â¤¢¤ë¡£¢ÎÉû¿ÕÈé¼Áµ¡Ç½Äã²¼¥¢¥¸¥½¥óÉÂ(³°½ýÉô°Ì¤Ë¿§ÁÇÁý²Ã¤¬ÌÜΩ¤Ä) Dr. ¾®µÜ»³¤Îȼηưʪ¤Ø¤Î¤ä¤µ¤·¤¤¡ÊÍ¥¤·¤¤¡Ë½Ã°å³Ø¡Ö¸¤¤ÎÉû¿ÕÈé¼Áµ¡Ç½Ð¶¿Ê¾É¡Ê¸¤¤Î¥¯¥Ã¥·¥ó¥°¾É¸õ·²¡Ë (2005/5/14 ÂèÆó²ó²þÄû)¡× |
unknown | ¿ |
316 |
Hyperbilirubinaemia, unclassified *̤ʬÎà¤Î¹â¥Ó¥ê¥ë¥Ó¥ó·ì¾É |
²«áÕ¡¢¸µµ¤¾ÃÄÀ¡¢¿©ÍßÄã²¼¡¢ | ¿·À¸»Ò»àË´¤¬¤¢¤ë¤¬¸¤¤Ç¤Ï²«áÕ¤¬¤ï¤«¤ê¤Ë¤¯¤¤¤¿¤á¸«²á¤´¤µ¤ì¤ë¥±¡¼¥¹¤¬Â¿¤¤¤È»×¤ï¤ì¤ë | unknown | * |
317 |
Hypercholesterolaemia ¹â¥³¥ì¥¹¥Æ¥í¡¼¥ë·ì¾É |
ÌܤΥեÁ¤ä¤Þ¤Ö¤¿¤ÎÆ⦴ޤàÌܤμþ°Ï¤Ë¾®¤µ¤¤»éËäΤǤ¤â¤Î¡¢Æ°Ì®¶¹ºõ¡¢Æ°Ì®¹Å²½¡¢µõ·ìÀ¿´¼À´µ¡Ê¶¹¿´¾É¡¢¿´¶Ú¹¼ºÉ¡Ë | ·ì±ÕÃæ¤ÎÁí¥³¥ì¥¹¥Æ¥í¡¼¥ëÃͤ¬¹â¤¤¥¿¥¤¥×¤Î»é¼Á°Û¾ï¾É¤Ç¤¤¤¯¤Ä¤«¤Î·¿¤¬¤¢¤ë¤¬ÂÎÆâ¤Î¥³¥ì¥¹¥Æ¥í¡¼¥ë¤ò±¿¤Ö¤¿¤á¤Î¼õÍÆÂΤäʬ²ò¹ÚÁǤη绤¬¼ç¡£¥¢¥¥ì¥¹ç§¤Ë¤â»éËü𤬤Ǥ¤¿¤ê¤½¤Î¼þ°Ï¤¬¼ð¤ì¤¿¤è¤¦¤ËÈî¸ü¤¹¤ë¾ì¹ç¤â¤¢¤ë¡£ Æ°Ì®¹Å²½¤Ê¤É¤Ë¤è¤ê¿´Â¡¤Ë¤Ï¤ê¤á¤°¤é¤µ¤ì¤¿´§Æ°Ì®¤Ë½½Ê¬¤Ê»ÀÁÇ¡¦¥¨¥Í¥ë¥®¡¼¤¬¹Ô¤ÅϤé¤Ê¤¤¾õÂÖ¤òµõ·ì¤È¤¤¤¤¡¢ µõ·ì¤¬°ì²áÀ¤À¤È¶¹¿´¾É¡¢´§Æ°Ì®¤¬´°Á´¤ËµÍ¤Þ¤ê¿´¶Ú¤¬²õ»à¤¹¤ë¤È¿´¶Ú¹¼ºÉ¡£¹Ã¾õÁ£µ¡Ç½Äã²¼¾É¡¢ÅüǢɡ¢¥Í¥Õ¥í¡¼¥¼¾É¸õ·²¡¢ÊĺÉÀ²«áդʤɤǤâ·ìÀ¶¥³¥ì¥¹¥Æ¥í¡¼¥ëÃͤϾ徺¤¹¤ë¡ÊÆó¼¡À¡Ë¡£ | unknown | ¥É¥Ù¡¢¥í¥Ã¥È¡¢¥³¥ê¡¼ |
318 |
Hyperekplexia (Startle disease) ¥°¥ê¥·¥ó¼õÍÆÂΤÎÊѰۤˤè¤ë²á¾ê¶Ãس¾É |
ÉÔ°Õ¤ò¤Ä¤¯²»¤äÀÜ¿¨¤Ê¤É¤Ë¤è¤ë¶ÚáÛÚ»¡¢¶Ú¹Åľ¡¢Å¾ÅÝ¡¢¸ÆµÛº¤Æñ |
Gene: SLC6A5 ²á¾ê¶Ãس¾É¡£Â¯¤Ë¤Ó¤Ã¤¯¤êÉ¡£ÍÞÀ©À¿À·ÐÅÁã¤Ë´ØÍ¿¤¹¤ë¥°¥ê¥·¥ó¤Î¼õÍÆÂΤäÍ¢Á÷ÂΤΰäÅÁ»ÒÊѰۤˤè¤ê¥°¥ê¥·¥óºîÆ°ÀÍÞÀ©¿À·Ð¤ÎÄã²¼¤«¤é¥·¥Ê¥×¥¹ÅÁ㤬¾ã³²¤µ¤ì¤ë |
AR | I¥¦¥ë¥Õ¥Ï¥¦¥ó¥É¡¢¥é¥Ö |
319 |
Hypereosinophilic syndrome ¹¥»ÀµåÁý²Ã(¿)¾É¸õ·² |
Á´¿È¤Îȯ¿¾¤äáڤߡ¢ÉÏ·ì¡¢²¼Î¡¡¢Ê¢ÉôáÛÚ»¡¢ÂνŸº¾¯¡¢±Ê³Ū¤Ê³± | Èé²¼¤Î¤·¤³¤ê¡¢¾Ã²½´É¡¢¹ü¿ñ¡¢ç£Â¡¡¢¥ê¥ó¥ÑÀá¡¢ÇÙ¤ä´Î¡¤Ê¤É¤Î¡´ï¤ò¼è¤ê°Ï¤àÁÈ¿¥¤ÎÈî¸ü¡¢¸ÆµÛº¤Æñ¡¢¶»¿å¡¦ÉÔÀ°Ì®¡¦ÁÎ˹Êۤ仰ÀíÊÛµÕή¤ò´Þ¤à¿´Â¡¥È¥é¥Ö¥ë¡¢³Æ¼ï¡´ïÉÔÁ´¤Ê¤É¤â¾É¾õ¤ÎÎ㤬¤¢¤ë¡£Ëö¾¿·ìÃæ¤Î¹¥»Àµå¤¬°Û¾ï¤Ë¿¤¤¾õÂ֤ǡ¢´óÀ¸Ãî´¶À÷¤ä¥¢¥ì¥ë¥®¡¼È¿±þ¡¢¥¢¥È¥Ô¡¼À¼À´µ¤Çµ¯¤³¤ë¤³¤È¤â¤¢¤ë(¹¥»Àµå¤ò¸º¤é¤¹°ø»Ò¤Î¤Ò¤È¤Ä¤Ë¤Ï¥¹¥È¥ì¥¹¤¬¤¢¤ë)¡£Áý²Ã¾õÂÖ¤¬Ä¹°ú¤¯¤ÈÆÃȯÀ¹¥»ÀµåÁý²Ã¾É¸õ·²¤È¿Ê¤ß¿´Â¡¡¢ÇÙ¡¢ç£Â¡¡¢¤ª¤è¤Ó¿À·Ð·Ï¤Ê¤É¤¢¤é¤æ¤ë¡´ï¤¬¿¯¤µ¤ìͽ¸åÉÔÎÉ | unknown | * |
320 |
Hypergammaglobulinaemia ¹â¥¬¥ó¥Þ¥°¥í¥Ö¥ê¥ó·ì¾É |
É¡·ì¡¢»õ·Ô¡¦Ìܤ«¤é¤Î½Ð·ì¡¢Æâ½Ð·ì¡ÊÈéÉæ¤Î¤¢¤¶¡Ë¡¢°×´¶À÷À |
ËýÀ³èÆ°À´Î¼À´µ¡¢¼«¸ÊÌȱÖÀ´Î±ê ¦Ã¥°¥í¥Ö¥ê¥ó¤È¤ÏÌȱ֤˴ØÍ¿¤¹¤ë·ì±ÕÃæ¤Ë¤¢¤ë¤¿¤ó¤Ñ¤¯¼Á ¤³¤ì¤¬¤¢¤Ã¤ÆËýÀÂñÕÁ£±ê¤È´¥ÁçÀ³Ñ·ëËì±ê(¤¬¼çÄ¥)¤Ê¤Î¤Ï¥·¥§¡¼¥°¥ì¥ó¾É¸õ·²(¼«¸ÊÌȱּÀ´µ) |
unknown | G¥·¥§¥Ñ |
321 |
Hyperhomocysteinemia ¹â¥Û¥â¥·¥¹¥Æ¥¤¥ó·ì¾É |
ËýÀ°ßIJ¼À´µ¡¢ÉÏ·ì¡¢¿´·ì´É¼À´µ¡¢·ìÀò¾É¡¢Äã·ì°µ¾É | ¥Ò¥È¤Î¥±¡¼¥¹Æ±ÍͤËÍÕ»À¤È¥Ó¥¿¥ß¥óB6¤äB12¤ÎÄã²¼¤¬¸«¤é¤ì¤ë¡£Ä㥳¥Ð¥é¥ß¥ó·ì¾É¡£¥°¥ì¥¤¥Ï¥¦¥ó¥É¤Ç¤ÏÉÑÈˤ˵¯¤³¤Ã¤Æ¤¤¤ë | unknown¡Ê¤ª¤½¤é¤¯Â¿°ø»Ò | G¥Ï¥¦¥ó¥É |
322 |
Hyperkeratosis, epidermolytic ɽÈéÍϲòÀ³Ñ²½¾É¡¢É½ÈéÇíÎ¥À³Ñ¼ÁÁý¿£¾É |
¤ï¤¤ä¤½¤±¤¤Éô¤Î¿§ÁÇÄÀÃå¡¢³Ñ¼Á¤ÎÁý²Ã¡¢¿åá× |
Gene: KRT10 ɽÈéºÙ˦¤ÎÍϲò¡¢É½Èé¤ÎÀȼ塣(ƱµÁ¸ì)¿åá×·¿ÀèÅ·ÀµûÎÚáýÍ͹ÈÈé¾É¡£#µûÎÚáý¤Î¤Ò¤È¤Ä |
AR | ¥Î¡¼¥Õ¥©¡¼¥¯ |
323 |
Hyperkeratosis, palmoplantar ¼ê¾¸ÂÄì³Ñ²½¾É¡¢³Ñ¼ÁÁý¿£¾É¡¢³Ñ²½Ð¶¿Ê |
Æùµå¤Î³Ñ²½¤äµµÎö¡¢¤½¤ì¤Ë¤è¤ëÆ󼡴¶À÷ |
Gene: FAM83G ¾É¾õ¤Î½Ð»Ï¤á¤Ï³ê¤é¤«¤ÊÍÓÈé»æ¤Î¤è¤¦¤ÊÆùµå¤Ç¤½¤Î¸å¹Å²½¤·±ß¿í¾õ¤ÎÆ͵¯¤¬Áý²Ã¡¢³Ñ²½¡¢µµÎö |
AR | ¥¢¥¤¥ê¥Ã¥·¥å¥Æ¥ê¥¢ |
324 |
Hyperkinesis ±¿Æ°Ð¶¿Ê¾É |
¼«Ê¬¤Î°Õ»×¤È¤Ï̵´Ø·¸¤Ë¤ª¤³¤ëÉÔ¿ï°Õ±¿Æ°¢ª¿¶Àï(¿Ì¤¨)¡¢¼Ððô¡¢Ê⤯¤È¤¤Ë¼Ð¤á¤Ë¤Ê¤ë¡¢¸ý¤ò¥â¥°¥â¥°¥¯¥Á¥ã¥¯¥Á¥ã¡¢ÉÑÈˤʥӥ¯¤Ä¤¤Ê¤É | ¥¹¥³¥Ã¥Á¥¯¥é¥ó¥×Scottie cramp | unknown | ¥¹¥³¥Ã¥Á |
325 |
Hyperlipidaemia ¹â»é·ì¾É |
Áê±þ¤Ë¿Ê¹Ô¤¹¤ë¤Þ¤Ç¾É¾õ¤¬¤Û¤È¤ó¤É̵¤¤ | ·ìÃæ»é¼ÁÃͤ¬°Û¾ï¤Ë¿¤¤¾õÂÖ¤Çç¹±ê¤ä¿´¶Ú¹¼ºÉ¤Ë»ê¤ë¤³¤È¤â¤¢¤ë¡£»é¼Á°Û¾ï¾Édyslipidemia¤ò°ÊÁ°¤Ï¹â»é·ì¾É¤È¸À¤Ã¤¿ | unknown | * |
326 |
Hyperlipoproteinaemia ¹â¥ê¥ÝÃÁÇò·ì¾É |
¹â»é·ì¾É¤ÈƱÍÍ¡¢´Î¼ð¡¢ç£¼ð¡¢·«¤êÊÖ¤¹Ê¢ÄËȯºî |
¥Ò¥È¤Ç¤Ï²«¿§¼ð¤¬¤Þ¤Ö¤¿¤äɪ¡¦É¨¡¦¿¬¡¦ÇØÃ桦µÓ¤ÎÁ°Â¦¡¢ÏӤθ妤ʤɤ˽ÐÍè¤ë¡£ç¹±ê¡£»à¤Ë»ê¤ë¤³¤È¤â¤¢¤ë¡£ ¥ê¥ÝÃÁÇò¤Ï»é¼Á¤¬·ìÞùÃæ¤Ë¸ºß¤¹¤ëÍÍÂ֤ǡ¢»é¼Á¤È¥¢¥Ý¥ê¥Ý¥¿¥ó¥Ñ¥¯¼Á¤¬·ë¹ç¤·¤¿¤â¤Î |
unknown | M¥·¥å¥Ê |
327 |
Hyperparathyroidism Éû¹Ã¾õÁ£µ¡Ç½Ð¶¿Ê¾É |
¸µµ¤¾ÃÄÀ¡¢¿Õ·ëÀС¢¿©ÍßÉÔ¿¶¡¦ÓÒÅÇ¡¦²¼Î¡(¾Ã²½ÀÄÙáç)¡¢ç¹±ê¡¢°×¹üÀÞÀ |
·ì±ÕÃæ¤Î¥«¥ë¥·¥¦¥àÇ»ÅÙ¤ò°ìÄê¤ÎÈÏ°ÏÆâ¤ËÄ´À᤹¤ëÉû¹Ã¾õÁ£¥Û¥ë¥â¥ó¤¬¾åÈé¾®ÂΤβá·ÁÀ®¤äÁ£¼ð¤¬¼ç¤Ê¸¶°ø¤Ç¡¢·ì±ÕÃæ¤Î¥«¥ë¥·¥¦¥à¤¬Àµ¾ï¤Þ¤¿¤Ï¤½¤ì°Ê¾å¤¢¤ë¤Î¤ËÉû¹Ã¾õÁ£¥Û¥ë¥â¥ó¤¬É¬Íװʾå¤Ë¤Ä¤¯¤é¤ì¤ë¤³¤È¤Çµ¯¤³¤ëɵ¤¡£ ·ò¹¯ÂΤǤϷì±ÕÃæ¤Î¥«¥ë¥·¥¦¥à¤¬¸º¤ë¤ÈÉû¹Ã¾õÁ£¥Û¥ë¥â¥ó¤¬Áý²Ã¤¹¤ë¤³¤È¤Ë¤è¤ê¹ü¤ËÃߤ¨¤é¤ì¤Æ¤¤¤ë¥«¥ë¥·¥¦¥à¤¬·ì±ÕÃæ¤ËÍϤ«¤·½Ð¤µ¤ì¤Æ¥«¥ë¥·¥¦¥àÇ»ÅÙ¤¬Àµ¾ï¤ËÌá¤ë»ÅÁȤߤˤʤäƤ¤¤ë¡£ ¿ÇÃÇ;¹â¢ª·ìÃ楫¥ë¥·¥¦¥àÇ»ÅÙ¤ÈÉû¹Ã¾õÁ£¥Û¥ë¥â¥ó¤ÈÇ¢Ã楫¥ë¥·¥¦¥àÇÓÝõÎÌ |
AD | ¿ |
328 |
Hyperphosphatasaemia ¹â¥¢¥ë¥«¥ê¥Û¥¹¥Õ¥¡¥¿¡¼¥¼·ì¾É |
̵¾É¾õ¤Þ¤¿¤ÏÓÒÅǤ䲼Ρ¤Ê¤É·Ú¤¤¾Ã²½´ï¾É¾õ | ¥¢¥ë¥«¥ê¥Û¥¹¥Õ¥¡¥¿¡¼¥¼(ALP¡á´Îµ¡Ç½¤Î»Øɸ¤Î¤Ò¤È¤Ä)¤È¤Ï¥¢¥ë¥«¥êÀ¤Î¾õ¶·²¼¤Ç¥ê¥ó»À¥¨¥¹¥Æ¥ë²½¹çʪ¤ò²Ã¿åʬ²ò¤¹¤ë¹ÚÁÇ¡£´Î¡¡¢¿Õ¡¡¢¹ü¡¢¾®Ä²¡¢ÂÛÈפʤɤË¿¤¯´Þ¤Þ¤ì¤ë¤Î¤Ç¤½¤ì¤é¤Î¡´ï¤¬¥À¥á¡¼¥¸¤ò¼õ¤±¤ë¤È·ì±ÕÃæ¤Ç¹âÃͤȤʤ롣 ¤¬¡¢²È²ÀÎÉÀ¹â¥¢¥ë¥«¥ê¥Û¥¹¥Õ¥¡¥¿¡¼¥¼·ì¾É¤Ç¤Ï¡¢Î×¾²¡¢Êü¼ÍÀþ³ØŪ¡¢À¸²½³ØŪɾ²Á¤Ï¾¤Î°Û¾ï½ê¸«¤òǧ¤á¤Ê¤¤¤Î¤Ë·ìÀ¶¥¢¥ë¥«¥êÀ¥Û¥¹¥Õ¥¡¥¿¡¼¥¼¡ÊALP¡Ë¤ÎñÆȹâÃ͡ʾ®Ä²·¿ALP¤ËͳÍ褹¤ë·ìÀ¶ALP¤Î°Û¾ï¹âÃ͡ˤ¬¸«¤é¤ì¤ë¡¢¤È¤¤¤¦¸¦µæ | unknown | ¥Ï¥¹¥¡¼ |
329 |
Hypertension ¹â·ì°µ¾É |
Ǿ¡¢´ã¡¢¿´Â¡¡¢¿Õ¡¾ã³² | Ĺ´ü´Ö¾É¾õ¤¬¸½¤ì¤Ê¤¤¤«Â¾¤Î¿´¼À´µ¤Î¹çÊ»¤Ê¤É | unknown | * |
330 |
Hypertension, essential ËÜÂÖÀ¹â·ì°µ¾É |
½é´ü¤Ë¸µµ¤¾ÃÄÀ | ¸¶°øÉÔÌÀ¤Î¹â·ì°µ¡£¸¶°ø¤¬ÉÔÌÀ¤È¤Ï¤³¤Î¾ì¹çÌÀ¤é¤«¤Ê¿Õ¡¼À´µ¡¦¥¯¥Ã¥·¥ó¥°¾É¤ä¹Ã¾õÁ£µ¡Ç½Ð¶¿Ê¾É¤Ê¤É¤ÎÆâʬÈç¼À´µ¡¦Éû¿Õ¼ðá硦ÌôºÞ¤Ë¤è¤ëÉûÈ¿±þ¤Ê¤É¤¬¸«Åö¤¿¤é¤Ê¤¤¾ì¹ç¤ò»Ø¤¹¡£ | unknown | * |
331 |
Hypertrichosis ¿ÌÓ¾É |
¿Ë¶â¾õ¡¢ÍÓÌÓ¾õ¡¢ÇȾõ¤Ê¤É¤ÎÆÈÆäʰ۾ï¤Ê¥³¡¼¥È | 1¤Ä¤ÎÌÓÊñ¤«¤éÊ£¿ô¤ÎÌÓ¤¬È¯À¸¤¹¤ë¡£¤³¤Î°Û¾ï¤Ï¹¶·âÀ¤ä¿ư¡¦³Ø½¬¾ã³²¤òȼ¤¤¤·¤Ð¤·¤ÐÌ©Àܤ˿åƬ¾É¤äÃæ¿õ¿À·Ð·Ï¤Ë±Æ¶Á¤òÍ¿¤¨¤ëɵ¤¤Ë´ØÏ¢ÉÕ¤±¤é¤ì¤Æ¤¤¤ë | unknown | ¥´¥ë |
332 |
Hypertriglyceridaemia ¹â¥È¥ê¥°¥ê¥»¥ê¥É·ì¾É |
°²½¤·¤Æ¤«¤é¤Î¿©ÍßÉÔ¿¶¡¢¾Ã²½´ï¾É¾õ¡¢ç¹±ê | ·ì±ÕÃæ¤Ë´Þ¤Þ¤ì¤ë»é¼Á¤¬²á¾ê¤¢¤ë¤¤¤ÏÉÔ¤¹¤ë»é¼Á°Û¾ï¾É(°ÊÁ°¤Ï¹â»é·ì¾É¤È¸Æ¤ó¤À)¤Î¤¦¤Á·ì±ÕÃæ¤ËÃæÀ»éËÃ(¥È¥ê¥°¥ê¥»¥ê¥É)¤¬Â¿¤¯Â¸ºß¤¹¤ë¥¿¥¤¥×¤Î»é¼Á°Û¾ï¾É¡£¥ß¥Ë¥·¥å¥Ê¤Î¾ì¹ç¤Ï¥¤¥ó¥¹¥ê¥óÄñ¹³À¤È´ØÏ¢¤·¤Æ¤¤¤ë | unknown | M¥·¥å¥Ê |
333 |
Hypoadrenocorticism Éû¿ÕÈé¼Áµ¡Ç½Äã²¼¾É |
¿°û¡¢¿©ÍßÉÔ¿¶¡¢¿´Çï¿ôÄã²¼¡¢ÄãÂβ¹¡¢¿Ì¤¨¡¢²¼Î¡¡¢ÓÒÅÇ¡¢ÂνŸº¾¯ | Éû¿Õ¤«¤éʬÈ礵¤ì¤ë¥Û¥ë¥â¥ó¤Î·ç˳¡¢¥¢¥¸¥½¥óÉ | unknown | ¥´¥ë¡¢¥Ó¥¢¥Ç¥£¡¢G¥·¥§¥Ñ |
334 |
Hypoadrenocorticism, primary ¸¶È¯ÀÉû¿ÕÈé¼ÁÄã·ÁÀ® |
¿©ÍßÉÔ¿¶¡¢¶ÚÎÏÄã²¼¡¢Ìµµ¤ÎÏ | ¸¶È¯À¤È¤ÏºÇ½é¤Ë¤½¤ÎÉô°Ì¤Ëȯ¾É¤¹¤ë¡¢¤È¤¤¤Ã¤¿°ÕÌ£¡£¢ÎÆó¼¡À¡£¸¶È¯À¤ÎËýÀÉû¿ÕÈé¼Áµ¡Ç½Äã²¼¾É¤Ë¤ÏÀèÅ·À¤Î¤â¤Î¤È¸åÅ·À¤Î¤â¤Î¤¬Â¸ºß¤·¡¢ÀèÅ·À¤Î¤â¤Î¤Ï¥¢¥¸¥½¥óɤȤÏÆÈΩ¤·¤¿¼À´µÃ±°Ì¤È¤·¤Æ°·¤ï¤ì¤ë¤è¤¦¤Ë¤Ê¤Ã¤¿¡£¤³¤Î¤¿¤á¡¢¥¢¥¸¥½¥óɤϸåÅ·À¤ÎÀ®°ø¤Ë¤è¤ëÉÂÂÖ¤òÁí¾Î¤¹¤ëÍѸì¤È¤·¤ÆÍѤ¤¤é¤ì¤Æ¤¤¤ë | unknown | ¿ |
335 |
Hypocatalasia Ä㥫¥¿¥é¡¼¥¼¾É |
»õ¼þ°ÏÁÈ¿¥¤Î¿Ê¹ÔÀ²õáÔÀÉÂÊÑ |
Genes: CAT ÀèÅ·À¤Î°äÅÁŪ¹ÚÁǷ绤ÎÂåɽÎã¡£ÂÎÆâÃæ¤Î¥«¥¿¥é¡¼¥¼¤¬ÉÔ¤·¡¢²á»À²½¿åÁǤ¬Ê¬²ò¤Ç¤¤Ê¤¯¤Ê¤ëɵ¤¡£¹â¸¶»áÉÂ(Takahara's disease)¡£Ìµ¥«¥¿¥é¡¼¥¼¾É¤ÏAcatalasia |
ñ°ì°äÅÁ»Ò ¤ª¤½¤é¤¯AR |
¥Ó¡¼¥°¥ë |
336 |
Hypogonadism ÀÁ£µ¡Ç½Äã²¼¾É¡¢À¸¿£µ¡Ç½ÉÔÁ´ |
¾®âдݡ¢¾®ÀºÁã¡¢À´ï(Æâ³°¤È¤â)¤Î̤ȯã¡¢¥Ð¥é¥ó¥¹Åª¤ËŤ¤»Í»è¡¢À¸¿£ÉÔÁ´ | ¥ª¥¹¤Ë¿¤¤Àʬ²½°Û¾ï¡£¥ª¥¹¤Ï¥¯¥é¥¤¥ó¥Õ¥§¥ë¥¿¡¼¾É¸õ·²(#¥À¥Ö¥ë¥¨¥Ã¥¯¥¹¤Î¥ª¥¹)¡¢#ÀºÁãÀ½÷À²½¾É¡¢¥á¥¹¤Ï#»ÄαÀ¥ß¥å¥é¡¼´É¾É¸õ·²¡¢¥¿¡¼¥Ê¡¼¾É¸õ·²(XÀ÷¿§Âηç»)¡¡¤Ê¤É¤ò»²¾È | unknown | * |
337 |
Hypolipoproteinaemia Äã¥ê¥ÝÃÁÇò·ì¾É |
̵¾É¾õ¤«¤é»éËää»éÍÏÀ¥Ó¥¿¥ß¥óE¡¢K¡¢AµÛ¼ý¾ã³²¤Ë¤è¤ë²¼Î¡¡¢¾®¤Ö¤ê¡¢Î®»º¡¢¹â·ì°µ¡¢Ç¾Â´Ãæ¡¢ÆÍÁ³»à | ¹â»é·ì¾É¡£Áí¥³¥ì¥¹¥Æ¥í¡¼¥ë¹âÃÍ | unknown | M¥·¥å¥Ê |
338 |
Hypomyelination of the central nervous system *Ãæ¿õ¿À·Ð·Ï¿ñ¾ä·ÁÀ®ÉÔÁ´ |
À¸¸å2¡Á3½µº¢¤«¤é¤Î¿Ì¤¨¡¢¤½¤Î¾¾®Ç¾¾ã³² |
Gene: FNIP2 À¸¸å¤¹¤°¤«¤é¤Î¿À·Ð¾É¾õ¡£Ãæ¿õ¿À·Ð·Ï¡ÊǾ¤ÈÀÔ¿ñ¡Ë¥ß¥¨¥ê¥ó·ÁÀ®ÉÔÁ´¡¢Ëö¾¿¿À·Ð¤ÏÄ̾ï¤ÎÍ¿ñ¤Ç¤¢¤ë |
AR | ¥ï¥¤¥Þ¡¢¥Á¥ã¥¦¥Á¥ã¥¦ |
339 |
Hypomyelinogenesis, congenital *ÀèÅ·À¿ñ¾ä·ÁÀ®ÉÔÁ´ |
»Í»èËãáã¡¢¤Æ¤ó¤«¤ó¡¢¿Ê¹ÔÀ¤Î±¿Æ°¼ºÄ´¡¢Éô°Ì¤Ë¤è¤êÍÍ¡¹¤Ê¿À·Ð¼À´µ | ¿ñ¾ämedullary sheath¤È¤Ï8³ä¤Û¤É¤¬»é¼Á¤Ç2³ä¤Û¤É¤¬¤¿¤ó¤Ñ¤¯¼Á¤«¤é¤Ê¤ëºÙ˦·Á¼ÁËì¤Î¿Áع½Â¤ÂΡ£¿ñ¼Á¤Î¿À·ÐÀþ°Ý¤¬»ý¤Ã¤Æ¤¤¤ë¾ä¡¢Çò¼Á¡£¤¢¤ë¼ï¤ÎÇò¼Á¥¸¥¹¥È¥í¥Õ¥£ | unknown | ¥Ö¥ë¥Þ¥¹¥Á¥Õ¡¢µí |
340 |
Hypoparathyroidism Éû¹Ã¾õÁ£µ¡Ç½Äã²¼¾É¡¢¾åÈé¾®ÂÎÄã²¼¾É |
¥Æ¥¿¥Ë¡¼(»Í»è¤Îáã¤ì)¡¢¤±¤¤¤ì¤óȯºî¡¢Êâ¹Ô°Û¾ï | Éû¹Ã¾õÁ£¥Û¥ë¥â¥ó(PTH)¤ÎÉÔ¤ò¸¶°ø¤È¤·¤¿Ä㥫¥ë¥·¥¦¥à·ì¾É¡¢¹â¥ê¥ó·ì¾É¤Ë¤è¤Ã¤Æ¼ï¡¹¤Î¾É¾õ¤ò¼¨¤¹Âå¼ÕÀ¼À´µ | unknown | ¿ |
341 |
Hypospadias Ǣƻ²¼Îö |
Ç¢¤Î½Ð¸ý¤¬±¢·Ô¤ÎÀè¤è¤êº¬¸µÂ¦¤Ë¤¢¤ë | Àʬ²½¾ã³²¤Î²ÄǽÀ¤¬¤¢¤ë | unknown | ÍÓ¡¢¥ä¥®¡¢ÇÏ¡¢Ç |
342 |
Hypothalamic dysplasia »ë¾²²¼Éôµ¡Ç½ÉÔÁ´ |
°Û¾ï¹ÔÆ°¡¢ÀÝ¿©¾ã³²¡¢Âβ¹Ä´Àá¾ã³²¡¢ÆâʬÈ絡ǽ¤È¼«Î§¿À·Ðµ¡Ç½¤Ë¾ã³² | 93ǯ¥¢¥á¥ê¥«Æ°ÊªÉ±¡¶¨²ñ»ï¤Ë»ë¾²²¼Éôµ¡Ç½ÉÔÁ´¤Î¸¤¤Ë¹â¥Ê¥È¥ê¥¦¥à·ì¾É¡¢Ìµ°û¾É¡¢¤ª¤è¤ÓÅüÇ¢ÉÂÇ¢Êø¾É¤¬¸«¤é¤ì¤¿¤È¤¤¤¦¾ðÊ󤬤¢¤ë¤é¤·¤¤ | unknown | * |
343 |
Hypothyroidism ¹Ã¾õÁ£µ¡Ç½Äã²¼¾É |
¸µµ¤¾ÃÄÀ¡¢ÂνÅÁý²Ã¡¢¹¶·âÀ¡¢Êâ¹Ô»þ¤Î¤³¤ï¤Ð¤ê¡¢º¸±¦ÂоÎÀæÌÓ¡¢¤Æ¤ó¤«¤óȯºî¡¢Ç´±Õ¿å¼ð |
Genes:TPO Á´¿È¤Î¥¨¥Í¥ë¥®¡¼ÍøÍѤòÂ¥¤¹¹Ã¾õÁ£¥Û¥ë¥â¥ó¤ÎʬÈçÎÌ(³èÀ)¤¬ÉÔ½½Ê¬¤È¤Ê¤ëÆâʬÈç¼À´µ¡£¤è¤Ã¤Æ¾É¾õ¤Ë¤«¤Ê¤ê¸ÄÂκ¹¤¬¤¢¤ë¡£¹Ã¾õÁ£¼«ÂΤÎÌäÂê¤Ë¤è¤ëʬÈçÉÔÁ´¤Ï¸¶È¯À¹Ã¾õÁ£µ¡Ç½Äã²¼¾É¡¢¹Ã¾õÁ£»É·ã¥Û¥ë¥â¥ó(TSH)ÉÔ¤ˤè¤ëʬÈçÉÔÁ´¤ÏÆó¼¡À¹Ã¾õÁ£µ¡Ç½Äã²¼¾É¡¢¹Ã¾õÁ£»É·ã¥Û¥ë¥â¥óÊü½Ð¥Û¥ë¥â¥ó(TRH)¤ÎÄã²¼¤Ë¤è¤ëTSH¤È¹Ã¾õÁ£¥Û¥ë¥â¥ó¤ÎʬÈçÉÔÁ´¤ò»°¼¡À¹Ã¾õÁ£¥Û¥ë¥â¥óÄã²¼¾É¤È¸Æ¤Ö |
AR | ¿ |
344 |
Hypothyroidism , primary ¸¶È¯À¹Ã¾õÁ£µ¡Ç½Äã²¼¾É |
Ʊ¾å | ¼«¸ÊÌȱ־㳲¤Ë¤è¤Ã¤Æ¹Ã¾õÁ£¤¬¹¶·â¤µ¤ì¤ë¥Ò¥È¤Î¶¶ËÜɤǤϹþõÁ£¤ÎËýÀ±ê¾É¤«¤éµ¡Ç½Äã²¼¤Ë¤¤¤¿¤ê¡¢¥è¥¦ÁÇÉÔ¤ǥۥë¥â¥ó»ºÀ¸¤¬³²¤µ¤ì¤ë¤Ê¤É¤¬¸¶È¯À¡£¹Ã¾õÁ£¤Îµ¡Ç½¤Ï¼ç¤Ë»ë¾²²¼Éô-²¼¿âÂÎ-¹Ã¾õÁ£·Ï¤¬Àµ¾ï¤Ç¤Ê¤±¤ì¤Ð¤Ê¤é¤Ê¤¯¡¢²¼¿âÂΤμðáç¤ä·ì´É¾ã³²¤Ê¤É¤¬Æó¼¡À¡¢»°¼¡À¤ÎÄã²¼¾É¤Ë¤Ä¤Ê¤¬¤ë | unknown | * |
345 |
Hypotrichosis ÉÏÌӾɡ¢Ë³ÌÓ¾É |
°Ê²¼¤Î¸¤¼ï¤Ç̵ÌÓ¤Ïñ°ì°äÅÁ»ÒºÂ¤Î¥Ø¥Æ¥íÀܹç¤Ç¤¢¤ë | ¥Á¥ã¥¤¥Ë¡¼¥º¥¯¥ì¥¹¥Æ¥Ã¥É¥É¥Ã¥°¡¢¥á¥¥·¥«¥ó¥Ø¥¢¥ì¥¹¥É¥Ã¥°¡¢¥Ú¥ë¡¼¥Ó¥¢¥ó¥Ø¥¢¥ì¥¹¥É¥Ã¥°¤Ê¤É¸²À¥Ø¥¢¥ì¥¹¼ï¤Î̵ÌÓ | ¾ïÀ÷¿§ÂÎÀ | ¸²À¥Ø¥¢¥ì¥¹ |
346 |
Hypotrichosis, recessive ÎôÀÉÏÌӾɡ¢Ë³ÌÓ¾É |
°Ê²¼¤Î¸¤¼ï¤Ç̵ÌÓ¤Ïñ°ì°äÅÁ»ÒºÂ¤Î¥Û¥âÀܹç¤Ç¤¢¤ë |
Gene: SGK3 ¥¢¥á¥ê¥«¥ó¤Ø¥¢¥ì¥¹¥Æ¥ê¥¢¡Ê¥é¥Ã¥È¥Æ¥ê¥¢¤ÎÆÍÁ³ÊÑ°Û¸ÄÂΡˡ££³Âç̵ÌÓ¼ï¤È¤Ï°Û¤Ê¤ë¾ïÀ÷¿§ÂÎÀøÀ¥Ø¥¢¥ì¥¹ |
AR | ÀøÀ¥Ø¥¢¥ì¥¹ |
347 |
Ichthyosis, ASPRV1-related ASPRV1´ØÏ¢·¿µûÎÚáý |
³Ñ¼Á¤Î°Û¾ïÃßÀѤˤè¤ëÎÚ¾õÈéÉæ |
Gene: ASPRV1 ¡ÖµûÎÚáý¤È¤ÏÈéÉæ¤Î¥Ð¥ê¥¢µ¡Ç½¤¬¾ã³²¤µ¤ìÂÛ»ù¤Î»þ¤«¤éÈéÉæ¤ÎɽÌ̤γÑÁؤ¬Èó¾ï¤Ë¸ü¤¯¤Ê¤ëɵ¤¡£½ÐÀ¸»þ¤¢¤ë¤¤¤Ï¿·À¸»ù´ü¤ËÁ´¿È¤Þ¤¿¤Ï¹ÈϰϤÎÈéÉ椬¸ü¤¤³Ñ¼Á¤Ëʤ¤ï¤ì¤ë¡×¡Ê¥Ò¥ÈÂоݤÎÆñɾðÊ󥻥󥿡¼¤è¤ê°úÍÑ¡Ë |
AD | * |
348 |
Ichthyosis, NIPAL4-related NIPAL4´ØÏ¢·¿µûÎÚáý |
³Ñ¼Á¤Î°Û¾ïÃßÀѤˤè¤ëÎÚ¾õÈéÉæ |
Gene: NIPAL4 NIPAL4°äÅÁ»Ò¤Î·çÇ¡¡£¼ç¤ËÊ¢Éô¤Î¹ÈÈÉ¡¢À¸¤Þ¤ì¤Ä¤½ÌÌÓ¡¢É½Èé¤ËÆó½Å¤Î»é¼Á¡¢³Ñ¼ÁºÙ˦Æâ¤Ë̤½èÍý¤Î»é¼Á¡¢¥Þ¥é¥»¥Á¥¢ |
AR | ¥¢¥á¥ê¥«¥ó¥Ö¥ë¥É¥Ã¥° |
349 |
Ichthyosis, PNPLA1-related PNPLA1´ØÏ¢·¿µûÎÚáý |
³Ñ¼Á¤Î°Û¾ïÃßÀѤˤè¤ëÎÚ¾õÈéÉæ |
Gene: PNPLA1 ¸µIchthyosis, Golden Retriever¥´¡¼¥ë¥Ç¥ó¥ì¥È¥ê¥Ð¡¼¤ÎµûÎÚáý |
AR | * |
350 |
Ichthyosis, SLC27A4-related SLC27A4-´ØÏ¢·¿µûÎÚáý |
³Ñ¼Á¤Î°Û¾ïÃßÀѤˤè¤ëÎÚ¾õÈéÉæ |
Gene: SLC27A4 SLC27A4¥¿¥ó¥Ñ¥¯¤Î·çÇ¡¡£¼ç¤ËÌܤäÉ¡¤Î¼þ°Ï¤Î¤·¤ï¡¢Âݤ¬À¸¤¨¤¿¤è¤¦¤ÊÈéÉæ¤ÎÈî¸ü¤Ë¤è¤Ã¤ÆÌܤ¬³«¤«¤Ê¤¤¤³¤È¤â¤¢¤ë¡£³°¹ñ¤Ç¤Ï°Â³Ú»¦ÂоݡÊ7-40ÆüÎð¡Ë |
AR | ¥Ç¥ó |
351 |
Ichthyosis, TGM1-related TGM1-´ØÏ¢·¿µûÎÚáý |
³Ñ¼Á¤Î°Û¾ïÃßÀѤˤè¤ëÎÚ¾õÈéÉæ |
Gene: TGM1 ¥È¥é¥ó¥¹¥°¥ë¥¿¥ß¥Ê¡¼¥¼1¡ÊTGM1¡Ë°äÅÁ»Ò¤Î¥È¥é¥ó¥¹¥Ý¥¾¥óÁÞÆþ¡£°äÅÁ»Ò°Û¾ï¤Ë¤è¤ëÈéÉæɽÌ̳ѼÁ¤Î·ÁÀ®¾ã³²¤¬¸¶°ø¤È¹Í¤¨¤é¤ì¤Æ¤¤¤ëµû¤ÎÎڤΤ褦¤ËÈéÉæ¤ÎɽÌ̤¬¹Å¤¯¤Ê¤êÇí¤¬¤ìÍî¤Á¤ëɵ¤ |
AR | ¥¸¥ã¥Ã¥¯¥é¥Ã¥»¥ë |
352 |
Immunodeficiency ÌȱÖÉÔÁ´¾É |
°×´¶À÷À¡¢½ÅÅ٤Ǥ¢¤ë¤Û¤ÉÃ×»àŪ | À¸ÂΤÎÌȱ־õÂÖ¡¢Ìȱֵ¡Ç½¤Îȯ¸½¤ÎÉÔ´°Á´¤Ê¾õÂÖ¡£ | XÏ¢º¿¤ÈAR¤¬Â¿¤¤ | ¥í¥Ã¥È¡¢¥·¥ã¡¼¥Ú¥¤¡¢I¥¦¥ë¥Õ¥Ï¥¦¥ó¥É¡¢Ç¡¢ÆÚ¡¢¥é¥Þ |
353 |
Immunoglobulin A deficiency Ìȱ֥°¥í¥Ö¥ê¥óA·ç»¾É |
¥¢¥ì¥ë¥®¡¼¡¢²¼Î¡¡¢¼«¸ÊÌȱּÀ´µ | ¸¶È¯ÀÌȱÖÉÔÁ´¾É¤ÎÃæ¤Ç¹³ÂÎÌȱÖÉÔÁ´¤ò¼çħ¤È¤¹¤ëÉ·¿¤Î°ì¤Ä¤Ç¿¤¯¤Ï̵¾É¾õ¡£¥»¥ê¥¢¥Ã¥¯É¤ä±ê¾ÉÀIJ¼À´µ¤Ê¤É¼«¸ÊÌȱּÀ´µ¤ä¥¢¥ì¥ë¥®¡¼¼À´µ¤Ê¤É¤È¹çÊ»¡£IgA·ç»¡£A¤ÏÇ´ËìÌ̤ǤζɽêÌȱ֤˴ØÍ¿¤¹¤ëÌȱ֥°¥í¥Ö¥ê¥ó | unknown | ¥·¥ã¡¼¥Ú¥¤¡¢G¥·¥§¥Ñ¡¢¥´¥ë¡¢¥é¥Ö¡¢¥Ï¥¤¥¤¥í¥ª¥ª¥«¥ß |
354 |
Immunoglobulin A glomerulonephropathy Ìȱ֥°¥í¥Ö¥ê¥óA·ç»À»åµåÂοվÉ(¤·¤¤å¤¦¤¿¤¤¤¸¤ó) |
·ìÇ¢¡¢ËìÀÁý¿£À»åµåÂοձê | ̵¾É¾õ¤«¤éËýÀŪ¤Ê»åµåÂΤαê¾É¤¬·ìÇ¢¡¦¤¿¤ó¤Ñ¤¯Ç¢¤È¤·¤Æ¸½¤ì¡¢¿Õµ¡Ç½¤¬Äã²¼¤·¿ÕÉÔÁ´¤Ë¤¤¤¿¤ë | unknown | * |
355 |
Immunoglobulin G deficiency Ìȱ֥°¥í¥Ö¥ê¥óG·ç»¾É |
¾Ã²½´ï¾É¾õ¡¢ÈéÉæ±ê¡¢°×´¶À÷À | G¤Ï·ìÃæ¤Î¹³ÂÎ¥¿¥ó¥Ñ¥¯¼Á¡£À¸¸å2¡Á3¥ö·îº¢¤«¤é²¼Î¡¤äÓÒÅǤΤۤ«¤ËÇ¿Èé¾É¤Ê¤É·Ú¤¤¾É¾õ¤«¤éÆÍÁ³»à¤Ë¤¤¤¿¤ë¤³¤È¤â¤¢¤ë | unknown | ¥ï¥¤¥Þ |
356 |
Imperforate anus with rectovaginal fistula *ľIJçµáñ¤òȼ¤¦º¿æê |
¿·À¸»Ò¤ÎÊ¢ÉôËÄËý¡¢ÓÒÅÇ¡¢Ó®ÆýÎϸº¡¢ÊØÈë¡¢»àË´ | º¿æê¤Ï¤ª¿¬¤Î·ê¤¬Àµ¾ï¤è¤ê¶¹¤«¤Ã¤¿¤êºÉ¤¬¤Ã¤Æ¤¤¤¿¤ê̵¤¤¤è¤¦¤Ê¾õÂÖ¡¢·Á¾õ¤Ï¸ÄÂκ¹¤Ë¤è¤ë¡£ º¿æê¤ÎÄøÅÙ¤¬½Å¾É¤Ê¤Û¤É¾Ã²½´ï¤äÈçÇ¢´ï¤Ë¤â´ñ·Á¤¬¹çÊ»¤¹¤ë¥±¡¼¥¹¤¬¸«¤é¤ì¤Æ¤¤¤ë¡£ ľIJçµáñ¤Ï¤±ÆºÞ¸¡ºº¤Ç¤â¤·¤Ê¤±¤ì¤Ð¸«¤¿ÌܤǤϤ狼¤é¤Ê¤¯¡¢¥ß¥ë¥¯¤ò°û¤à¤¿¤Ó¤ËÊؤΰìÉô¡ÁÁ´Éô¤¬½Ð¤Ê¤¤¤³¤È¤Ç¤ï¤ê¤ÈÁá´ü¤Ë»àË´¤¬Â¿¤¤¡£ | unknown | ¿ |
357 |
Improper coat ÉÔŬÀڤʥ³¡¼¥È |
Ì¿¤ËÊ̾ò¤¬½Ð¤ë¥±¡¼¥¹¤Ï̵¤µ¤½¤¦?? |
Genes: RSPO2 PW¥É¥Ã¥°¤Î´é¤È¤ν̤ìÌÓ¤ÈÂÎÁ´ÂΤΥ³¡¼¥È¤Ë¤Ä¤¤¤Æ¤Î¸¦µæ??? |
AR | PW¥É¥Ã¥° |
358 |
Inborn error of hepatic metabolism *ÀèÅ·À´ÎÀÂå¼Õ°Û¾ï |
¾ã³²¤Î¤¢¤ëʪ¼Á¤Ë¤è¤ë | ÀèÅ·ÀÂå¼Õ°Û¾ï¤Î¼£ÎŤΤ¿¤á¤Î°Û·¿´Î°Ü¿¢¤Î¸¦µæ | unknown | * |
359 |
Incomplete ossification of the humeral condyle ¾åÏÓ¹üðù¤ÎÉÔ´°Á´¹ü²½ |
ɪ¤Î¼ð¤ì¡¦Äˤߡ¢ìì¹Ô | ¾åÏÓ¹üðù¡Ê¤¸¤ç¤¦¤ï¤ó¤³¤Ã¤«¡Ë¤ÏÆ⦾åðù¤ª¤è¤Ó³°Â¦¾åðù¤Î´Ö¤Ë¤¢¤ë²¼Ã¼ÉôÁ´ÂΡ£À¸¸å8~12½µº¢¤Ë¹ü¤ÎÍ»¹ç¤¬´°À®¤¹¤ë¤¬¤½¤ÎºÝ¤ÎÍ»¹çÉÔÁ´ | unknown | ¥í¥Ã¥È¡¢¥é¥Ö¡¢S¥¹¥Ñ¥Ë¥¨¥ë¡¢¥¹¥Ñ¥Ë¥¨¥ë·Ï |
360 |
Inflammatory bowel disease ±ê¾ÉÀIJ¼À´µ |
ËýÀ¤Î¾Ã²½´ï¾É¾õ | ¾Ã²½´É¤Ë±ê¾É¤ò¤ª¤³¤¹ËýÀ¼À´µ¤ÎÁí¾Î | unknown | ¿ |
361 |
Intersex Àʬ²½¾ã³² |
ÀÊÌÉÔÌÀ¡¢Î¾À¶ñÍ¡¢ÉÔÇ¥ | ¿¿ÀȾ±¢ÍÛ¤ÏξÀ¤Îµ¡Ç½¤òÊ»¤»»ý¤Ä¡£²¾ÀȾ±¢ÍۤϰäÅÁ»Ò¾å¤ÎÀÊ̤ȳ°¸«¾å¤ÎÀÊ̤¬¹çÃפ·¤Ê¤¤¡£Æâ³°À´ï¤Î̤ʬ²½¡¢Ì¤È¯Ã£¡¢µ¡Ç½ÉÔÁ´¡£Î¾À¶ñÍ¡¢¥¤¥ó¥¿¡¼¥»¥Ã¥¯¥¹¡¢È¾±¢ÍÛ | unknown | ¿ |
362 |
Intervertebral disc disease, type I ÄÇ´ÖÈļÀ´µ |
ÄÇ´ÖÈĤÎÀг¥²½ | ¥Ï¥ó¥»¥óI·¿¤Î¤³¤È¡© | unknown | ¥À¥Ã¥¯¥¹ |
363 |
Intestinal cobalamin malabsorption due to AMN mutation AMNÊÑ°Û·¿¥³¥Ð¥é¥ß¥óµÛÃå¾ã³² |
ËýÀ²¼Î¡¡¢»éËÃÊØ(ÂçÎ̤ΰ½¤Î¤¢¤ëÇò¤Ã¤Ý¤¤»éʬ¤Î¿¤¤ÊØ)¡¢½ÅÅ٤Υӥ¿¥ß¥ó¤ª¤è¤Ó¥ß¥Í¥é¥ë·ç˳ |
Gene: AMN PennGen¤ÇDNA¸¡ºº¤¢¤ê¢ªÂоݸ¤¼ï;G¥·¥å¥Ê¥¦¥¶¡¼ |
AR | A¥·¥§¥Ñ¡¢G¥·¥å¥Ê¡¢¥³¥â¥ó¥É¡¼¥ë |
364 |
Intestinal cobalamin malabsorption due to CUBN mutation CUBNÊÑ°Û·¿¥³¥Ð¥é¥ß¥óµÛÃå¾ã³² |
ËýÀ²¼Î¡¡¢»éËÃÊØ(ÂçÎ̤ΰ½¤Î¤¢¤ëÇò¤Ã¤Ý¤¤»éʬ¤Î¿¤¤ÊØ)¡¢½ÅÅ٤Υӥ¿¥ß¥ó¤ª¤è¤Ó¥ß¥Í¥é¥ë·ç˳ |
Gene: AMN PennGen¤ÇDNA¸¡ºº¤¢¤ê¢ªÂоݸ¤¼ï;G¥·¥å¥Ê¥¦¥¶¡¼ |
AR | ¥Ü¡¼¥À¡¼¥³¥ê¡¼ |
365 |
Intestinal cobalamin malabsorption, generic ¥³¥Ð¥é¥ß¥óµÛÃå¾ã³² |
ËýÀ²¼Î¡¡¢»éËÃÊØ(ÂçÎ̤ΰ½¤Î¤¢¤ëÇò¤Ã¤Ý¤¤»éʬ¤Î¿¤¤ÊØ)¡¢½ÅÅ٤Υӥ¿¥ß¥ó¤ª¤è¤Ó¥ß¥Í¥é¥ë·ç˳ |
Gene: AMN PennGen¤ÇDNA¸¡ºº¤¢¤ê¢ªÂоݸ¤¼ï;G¥·¥å¥Ê¥¦¥¶¡¼ |
AR | ¥·¥ã¡¼¥Ú¥¤¡¢¥è¡¼¥¡¼¡¢¥¹¥¿¥Ã¥Õ¥£¡¢¥Ü¥¯¥µ¡¼¡¢¥´¥ë¡¢G¥·¥§¥Ñ |
366 |
Intussusception IJ½ÅÀÑ¾É |
ÓÒÅÇ¡¢Ç´·ìÊØ¡¢Ê¢Ä˾ɾõ | ¾®Ä²¤¬ÂçIJ¤ÎÃæ¤ËÆþ¤ê¹þ¤ó¤Ç(µÕêÀÆ°)¤·¤ÆIJÊĺɤòȯ¾É¤¹¤ëɵ¤¡£¸¤¤Ç¤Ï¶õ²óIJ¤«¤é·ëIJ¤Ë¤ª¤±¤ëȯÀ¸¤¬Â¿¤¤ | unknown | ¿ |
367 |
Invasive transitional cell carcinoma *¿»½áÀ°Ü¹Ô¾åÈ餬¤ó |
·ìÇ¢¡¢ÇÓÇ¢º¤Æñ¡¢ÉÑÇ¢ | ç¯æù¤Î¿¯½±À°Ü¹Ô¾åÈé´â | unknown | ¥¹¥³¥Ã¥Á¡¢¥Ó¡¼¥°¥ë¡¢¥·¥§¥ë¥Æ¥£ |
368 |
Iris atrophy ÆúºÌ°à½Ì¾É |
æ·ÌÀ | ÌܤËÆþ¤ë¸÷¤ÎÎ̤òÄ´À᤹¤ëµ¡Ç½¤ÎÄã²¼¡¢ÆúºÌ(Æ·¹¦¼þ°Ï¤ÎÌܤο§¤Î¤Ä¤¤¤¿Éôʬ)¶ÚÆù¤ÎÂಽ | unknown | ¥À¥Ã¥¯¥¹(¥À¥Ã¥×¥ë) |
369 |
Iris defects *ÆúºÌ·ç»¾É |
¶þÀÞ°Û¾ï¤òȼ¤¨¤Ð»ëÎϾ㳲 | ÆúºÌ¤Î°ìÉô¤¬·ç»¤·¤¿¾õÂÖ¡£¤¿¤¤¤Æ¤¤¤ÏÆúºÌ¤Î²¼ÉôÃæ±û¤Ë±ß·Á¡¢¤È¤¤ËÍñ±ß·Á¤äÍü·¿¤Î³«¸ý¤È¤¤¤¦·Á¤Ç¤ß¤È¤á¤é¤ì¤ë¡£Á°¥Ö¥É¥¦Ëìǹ˦ | unknown | Ç |
370 |
Kartagener syndrome ¥«¥ë¥¿¥²¥Ê¡¼¾É¸õ·² |
»Ò¸¤¤Îº¢¤«¤éµ¤´É»Ù±ê¡¦É¡±ê¡¦Çٱꡢ¼ªÉ¡´¶À÷¡¦¸ÆµÛ´ï´¶À÷¤ò·«¤êÊÖ¤¹ | ¡ÊÁ´Æ⡵հ̡¦¡ËÉûÉ¡¹Ð±ê¡¦µ¤´É»Ù³ÈÄ¥¤òȼ¤¦°äÅÁÀ¼À´µ¡£¢¨¸¶È¯ÀÀþÌÓ¥¸¥¹¥¥Í¥¸¥¢ | AR | ¥À¥Ã¥¯¥¹¡¢E¥¹¥×¡¢E¥³¥Ã¥«¡¼¡¢¥¹¥¿¥Ã¥Õ¥£¡¼¡¢¥Á¥ã¥¦ |
371 |
Keratitis ³ÑËì±ê |
³ÑËì¤Î±ê¾É | Ìܤμð¤ì¡¢ÄÙáç¡¢ÈóÄÙáçÀ±ê¾É¡¢ÇòÌܤ˷ì´É¤¬ÌÜΩ¤Ä¡¢³ÑËì¤ÎÊÑ¿§¡¢Çò¤¤ÈÃÅÀ | unknown | * |
372 |
Knobbed acrosome ?¾®Æ¬ÉôÀèÂÎ(¥¢¥¯¥í¥½¡¼¥à) |
Àº»Ò¤Î´ñ·Á(¤¬Â¿¤¤¾õÂÖ)¡¢ÉÔÇ¥ | ¥¢¥¯¥í¥½¡¼¥à(Àº»Ò¤ÎƬÉô¤ÎÀèü)¤¬¤³¤Ö¾õ¤ËÆ͵¯¤·¤Æ¤¤¤ë¾õÂ֤Τ褦¤À | unknown | M¥·¥å¥Ê |
373 |
Krabbe disease ¥¯¥é¥Ã¥ÙÉ |
´Ë¤ä¤«¤Ê¿Ê¹ÔÀ¤Î¿Ì¤¨¡¢±¿Æ°¼ºÄ´¡¢Ëãáã¡¢¾®Ç¾µ¡Ç½¾ã³² |
Genes:GALC ¥é¥¤¥½¥¾¡¼¥à¼À´µ(¥¹¥Õ¥£¥ó¥´»é¼Á¾É)¡£¾ïÀ÷¿§ÂÎÎôÀ°äÅÁ¤Îæ¿ñÀ¿À·ÐÊÑÀ¼À´µ¡¢µåÍͺÙ˦Çò¼Á°à½Ì¾É |
AR | ¥¦¥§¥¹¥Æ¥£¡¢¥±¥¢¥ó¡¢I¥»¥Ã¥¿¡¼¡¢¥±¥ë¥Ô¡¼¡¢¥À¥ë¥á¥·¥¢¥ó |
374 |
L-2-hydroxyglutaricacidemia ?L-2-¥Ò¥É¥í¥¥ª¥¥·¥°¥ë¥¿¥ë»ÀÇ¢¾É |
Àº¿À±¿Æ°È¯Ã£ÃÙÂÚ¡¢¤±¤¤¤ì¤óȯºî¡¢±¿Æ°¼ºÄ´¡¢ÃÔÊò |
Genes: L2HGDH ÀèÅ·ÀÂå¼Õ°Û¾ï¡¢Ç¢Ãæ͵¡»À°Û¾ï(Ç¢¤ä·ì±Õ¤Ê¤ÉL-2-¥Ò¥É¥í¥¥ª¥¥·¥°¥ë¥¿¥ë»À¤Î¾å¾º)¡£¼ç¤ËÂçǾÈé¼Á¡¢»ë¾²¡¢¾®Ç¾¡¢Ç¾´´¤Î³¥Çò¼Á¤¬³¤Ìʾõ¤ËÊѲ½¤¹¤ë |
AR | ¥¹¥¿¥Ã¥Õ¥£¡¼¡¢¥¦¥§¥¹¥Æ¥£ |
375 |
Lameness ìì¹Ô |
Êâ¹Ô¾ã³²¤Î¸¦µæ | ¿·¤¿¤Êìì¹Ô¤Îɾ²ÁÊýË¡¤Ë¤Ä¤Ê¤¬¤ëÊÒ¦ɪÊÑ·ÁÀ´ØÀá¾É¤Î¸¤¤«¤é¤Î°ìÏ¢¤Î¥Ç¡¼¥¿¤Ê¤É¡ÊPLoS One. 2017 Jan¡Ë | unknown | * |
376 |
Laryngeal paralysis ¹¢Æ¬Ëãáã |
±¿Æ°ÉÔÂÑÀ¡¢µÛµ¤ÀÓÃÌÄ¡¢µÛµ¤¸ÆµÛº¤Æñ¡¢ÅǤµ¤¡¢³±¡¢È¯À¼¾ã³² | ¼£ÎŤϼç¤Ë¹¢Æ¬ÊĺɤδËÏÂ(ÂоÉÎÅË¡)¡£¾ïÀ÷¿§ÂÎÍ¥À°äÅÁ¤¬ÃΤé¤ì¤Æ¤¤¤ë¡£°ìÈÌŪ¤Ë»þ´Ö¤Î·Ð²á¤È¶¦¤Ë°²½¤¹¤ë | unknown | ¥í¥Ã¥È¡¢¥é¥Ö¡¢¥¢¥Õ¥¬¥ó¡¢I¥»¥Ã¥¿¡¼¡¢¥Ï¥¹¥¡¼ |
377 |
Leber congenital amaurosis (congenital stationary night blindness) ¥ì¡¼¥Ð¡¼ÀèÅ·À¹õÆâ¾ã(ÀèÅ·ÀÌëÌÕÄâºÂ) |
ÌëÌÕ |
Gene: RPE65 ÌÖË쿧ÁǾåÈ饸¥¹¥È¥í¥Õ¥£¡¼¡£ÌÖËì¤Î¿Ê¹ÔÀÊÑÀ¤ÇÌÖËì¾å¤ËÌÀ¤ë¤¤Ã㿧¤Î¥Ñ¥Ã¥Á¤¬È¯¸½¤·È¿¼ÍΨ¤Î¹â¤¤Æޤä¿Îΰè¤òºîÀ®¤¹¤ë(ÀìÌç¤Î´ï¶ñ¤Ç¸¡ºº¤¹¤ë¡¢Æù´ã¤Ç¤Ï°Û¾ï¤Ï¤ï¤«¤é¤Ê¤¤) °äÅÁ»Ò¸¡ºº¥¢¥ê |
AR | ¥Ö¥ê¥¢¡¼¥É |
378 |
Leg morphology (leg width versus leg length) ÆâµÓ·ÁÂ֡ʵÓÉý¤ËÂФ¹¤ëµÓ¤ÎŤµ) |
¼À´µ¤Ç¤Ï¤Ê¤¤ | * | unknown | P¥¦¥©¡¼¥¿¡¼¥É¥Ã¥° |
379 |
Legg-Calve-Perthes disease ¥ì¥Ã¥°¥Ú¥ë¥Æ¥¹ |
¸å¤ÎÄˤߡ¢°ú¤¤º¤ê¡¢»¶Êâ·ù¤¤¡¢¹ø°Ê²¼¤Î¹ü³Ê¤ÎÊÑ·Á | ÂçÂܹüƬ¹üü¤Ø¤Î·ì±Õ¤Î¶¡µë¤¬ÉÔ½½Ê¬¤Ê¤¿¤á¤Ë̵¶ÝÀ²õ»à¤¬µ¯¤³¤ë¡£°ìÈÌŪ¤Ë¤ÏÀ¸¸å4,5¥ö·î¡Á10¥ö·îº¢¤Þ¤Ç¤ËÌÜΩ¤Ä¾É¾õ¤¬¸«¤é¤ì¤ë¡£¥ì¥ó¥È¥²¥ó¤Ç¿ÇÃǤǤ¤ë | ¾ïÀ÷¿§ÂÎÀ | ¥È¥¤¼ï |
380 |
Leishmaniasis, susceptibility/resistance to ¥ê¡¼¥·¥å¥Þ¥Ë¥¢¾É´¶¼õÀ |
¼À´µ¤Ç¤Ï¤Ê¤¤ | ¥ê¡¼¥·¥å¥Þ¥Ë¥¢¾É¤È¤Ï¥È¥ê¥Ñ¥Î¥½¡¼¥Þ²Ê¤Î¸¶Ãî¥ê¡¼¥·¥å¥Þ¥Ë¥¢¤Î´¶À÷¤ò¸¶°ø¤È¤¹¤ë¥º¡¼¥Î¡¼¥·¥¹¤ÎÁí¾Î¤Ç¸¤¤ÎÇÞ²ðÀ¼À´µ¤È¤·¤ÆÃΤé¤ì¤Æ¤¤¤ë¡£¥ê¡¼¥·¥å¥Þ¥Ë¥¢¾É¤Ç¤ÏÉ¡Àü¹¦ÀÄÙáçÀÈéÉæ±ê¤Ê¤É¤¬¤¢¤ë | unknown | * |
381 |
Lens luxation ¿å¾½ÂÎæ±± |
»ëÎÏÄã²¼¡¢ÌÖËì¤Ï¤¯Î¥¡¢Â³È¯ÀÎÐÆâ¾ã¡¢¼ºÌÀ |
Genes: ADAMTS17 ¤ï¤ê¤ÈÆÍÁ³¤Ë¿å¾½ÂΤòÊÝ»ý¤¹¤ë¿ÙÂӤλ½ý¤¬¸¶°ø¤Çæ±±(ž°Ì)¤¹¤ë¡£Â¿¤¯¤Ï3ºÐ°Ê¾å¤Çȯ¾É¡£¸åÊýæ±±¤Î¾ì¹ç¤Ï¸÷¤òÅö¤Æ¤ë¤È»°Æü·î·Á¤ÎÈ¿¼Í¤¬¸«¤é¤ì¤ë¤³¤È¤ä¡¢ÌܤòÆ°¤«¤·¤¿¤È¤¤ËÆúºÌ¤¬Íɤì¤ë¤Ê¤É¤Î¾É¾õ¤¬¤ï¤«¤ë¤³¤È¤â¤¢¤ë |
AR | ¥¸¥ã¥Ã¥¯¡¢¥Á¥Ù¥¿¥ó¥Æ¥ê¥¢¡¢M¥Ö¥ë¥Æ¥ê¥¢¡¢¥·¥ã¡¼¥Ú¥¤ |
382 |
Leucodystrophy Çò¼Á¥¸¥¹¥È¥í¥Õ¥£ |
¿åƬ¾É¡¢Ç¾ÀÔ¿ñ¤Î¿À·Ð¾É¾õ |
Gene: CYTB ³¤ÌʾõÊÑÀ·¿Çò¼Á¥¸¥¹¥È¥í¥Õ¥£ ¡¢¥í¥¤¥³¥¸¥¹¥È¥í¥Õ¥£¡¢Ç¾Çò¼ÁÊÑÀ¾É¡¢³¤ÌÊǾÀÔ¿ñ¾É¡£¤ª¤½¤é¤¯¥Ò¥È¤Î¥«¥Ê¥Ð¥óÉÂCanavan disease¤Ë¶á¤¤¾É¾õ¤Î¤è¤¦¤À¡£ ǾÀÔ¿ñ¤ÎÇò¼Á¤Ë¹ÈϰϡʤӤޤóÀ¡Ë¤Ê½ÅÅ٤γ¤ÌʾõÊÑÀ¤¬¸«¤é¤ì¤ë¡£Áá´üȯ¾É¡¦Í½¸åÉÔÎÉ |
¥ß¥È¥³¥ó¥É¥ê¥¢°äÅÁ | ¥À¥ë¡¢¥·¥§¥ë¥Æ¥£ |
383 |
Leukemia, chronic monocytic ËýÀñµåÀÇò·ìÉ |
Î×¾²¾É¾õ¤Î¤Ê¤¤Çò·ìµåÁý²Ã¾É |
Genes: BCR ¥Ò¥È¤Î¥Õ¥£¥é¥Ç¥ë¥Õ¥£¥¢À÷¿§Âΰ۾ï¤ËÎà»÷ |
¾ïÀ÷¿§ÂÎÀ¡¢Ã±°ì | * |
384 |
Leukocyte adhesion deficiency, type I Çò·ìµåÇ´ÃåÉÔÁ´¾Éµ·¿ |
À¸¸å12½µ°ÊÁ°¤«¤éÀÜÃåʬ»Ò·ç»¤Ë¤è¤ë°×´¶À÷À¡¢ÄãÂνš¢È¯Ç®¡¢¿©ÍßÉÔ¿¶¡¢»õÆù±ê¡¢Î®Þ·¡¢½ÅÅÙ¤ÎÈéÉæ´¶À÷¡£Áá´ü»àË´(¿¤¯¤Ï6¥ö·îÎð) |
Genes:ITGB2 Çò·ìµåɽÌ̾å¤ÎÇ´Ãåʬ»Ò¤Î·ç»¤ò¸¶°ø¤È¤¹¤ëÇò·ìµåµ¡Ç½°Û¾ï¾É¡£Çò·ìµå¿ô¤ÎÁý²Ã¡¢¹¥Ãæµå¤Îº¸Êý°ÜÆ° Optigen¤ÇI¥»¥Ã¥¿¡¼RW¥»¥Ã¥¿¡¼°äÅÁ»Ò¸¡ºº¤¢¤ê |
AR | I¥»¥Ã¥¿¡¼¡¢IRW¥»¥Ã¥¿¡¼ |
385 |
Leukocyte adhesion deficiency, type III Çò·ìµåÇ´ÃåÉÔÁ´¾É··¿ |
½ý¤Î¼£¤ê¤ÎÃ٤졢ǴËì½Ð·ì¤ÎÁý²Ã¡¢ìì¹Ô¡¢»õ¼þÉ¡¢È¯Ç®¡¢°×´¶À÷À¡¢Çò·ìµåÁý²Ã |
Gene: FERMT3 Çò·ìµåÀÜÃå·ç»¾É¤Ï¡¢ÌȱÖÉÔÁ´¤Ë¤è¤êÆÃħÉÕ¤±¤é¤ì¤ë°äÅÁÀ¼À´µ¡£2014ǯ¥á¥ë¥Ü¥ë¥ó½Ã°åÀìÌ祻¥ó¥¿¡¼¤Ç16¥ö·î¥ª¥¹G¥·¥§¥Ñ¡ß¥í¥Ã¥È¤ÎF1»¨¼ï¤¬È¯¾É¤·¤¿¸¦µæ¡£G¥·¥§¥Ñ¤Ë¤Ï°ÊÁ°¤«¤éÊó¹ð¤¬¤¢¤Ã¤¿¤¬»¨¼ï¤Ï½é¤á¤Æ¤È¤¤¤¦Ïà |
AR | G¥·¥§¥Ñ |
386 |
Leukoencephalomyelopathy *Çò¼ÁǾÀÔ¿ñ¾É |
¿Ê¹ÔÀ¤Î»Í»è¤ÎÊâ¹Ô¾ã³²¡¢±¿Æ°¼ºÄ´ | ÀÔ¿ñ¤ÈǾ¤ÎÇò¼Á¤Ë±Æ¶Á¤òÍ¿¤¨¤ë°äÅÁÀ¿À·ÐÊÑÀ¼À´µ¡£¥Ò¥È¤ÎÇò¼ÁǾ¾É(¤È¤ÏÊÌʪ¤À¤¬)¤Î¼£ÎŤËÌòΩ¤Ä²ÄǽÀ¤¬¤¢¤ë¤¿¤á¸¦µæ¤¬¿Ê¤à¡£**Ǿ´´¤ÈÀÔ¿ñž°Ü¤È¹â¤¤Æý»ÀÇ»ÅÙ??**°ì¼¡ÁÈ¿¥ÉÂÍý³ØŪÉÂÊѤÏÀÔ¿ñ¤ÈǾ´´¤Îæ¿ñ¤ÈÆ𲽾ɤοȯ?? | AR | ¥í¥Ã¥È |
387 |
Ligneous membranitis ÌÚ¼Á·ëËì±ê |
»ëÎÏÄã²¼¡¢ÌÖËì¤Ï¤¯Î¥¡¢Â³È¯ÀÎÐÆâ¾ã¡¢¼ºÌÀ |
Gene: PLG ¥×¥é¥¹¥ß¥Î¡¼¥²¥ó·ç˳¡¢¥¹¥³¥Ã¥ÁØí´µ¸¤¤È¤½¤ÎƱÂÛ¸¤Ê£¿ôƬ¤Î¸¡ºº¤Ç¤ÏØí´µ¸¤¤Î·ìÞù¥×¥é¥¹¥ß¥Î¡¼¥²¥ó³èÀ¤ÏÀµ¾ï¤è¤êÄ㤫¤Ã¤¿¤¬¡¢Â¾¤Î¸¤¤Ç¤ÏÀµ¾ï¤Ê´ð½à´Ö³ÖÆâ¤À¤Ã¤¿ |
AR | ¥¹¥³¥Ã¥Á¡¢¥É¡¼¥Ù¥ë¥Þ¥ó |
388 |
Linear IgA disease *¿åá×ÀÈéÉæ¾É |
???linear¤ÏÀþ¾õ¡¡Ìȱ֥°¥í¥Ö¥ê¥ó¡¡É »Í»è(»ØÀè)¡¦ÁÍ·ÂÉô¡¦´éÌÌ¡¦¸ý¹ÐÆâ¤Î¤Ó¤é¤óÀÄÙáç¤ÈáÐÈé(áÐÈ餫¤Ò¤ÏÉÂÊѤÎÄìÉô¤ËͳÍ褹¤ëÞú½Ð±Õ¡¢¤«¤µ¤Ö¤¿) |
¼«¸ÊÌȱÖÀɽÈé²¼¿åáפÎÈéÉæÉ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥À¥Ã¥¯¥¹¡¢¥·¡¼¥º¡¼¡¢C¥·¥ã¡¼¥Ú¥¤ |
389 |
Lipidosis ¥ê¥Ô¥É¡¼¥·¥¹ |
ÌÓ¿§¤Î漺¡¢¤«¤¿¤Þ¤Ã¤¿È´¤±ÌÓ¡¢ÁƤ¤¥ª¡¼¥Ð¡¼¥³¡¼¥È¤ÎÁÓ¼º¡¢ÈéÉæ¤Î¹õ¤º¤ß¡¢À®Ä¹ÉÔÎÉ¡¢¸¶°øÉÔÌÀ¤ÎÓÒÅǤ¬Â¿¤¤ | »é¼ÁÂå¼Õ°Û¾ï¡£»é¼Á¡Êlipid)¤¬°Û¾ïÃßÀÑ¡Êosis)¤¹¤ëɵ¤¤ÎÁí¾Î¡£¥é¥¤¥½¥¾¡¼¥àÉÂ(GM£±¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹¡¢¥´¡¼¥·¥§É¡¢¥¯¥é¥Ã¥ÙɤʤÉ)¡£¤³¤Î¹àÌܤǤÏLipidosis, follicular ßÉ˦À¥ê¥Ô¥É¡¼¥·¥¹(ÌÓÊñÆâ¤Ë»éËä¬ÃßÀÑ)¤ÎÀâÌÀ¤Î¤è¤¦¤À | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥í¥Ã¥È |
390 |
Lipomatosis, multiple ¿ȯÀ»éËüð¾É |
»éËü𤬤¤¤¯¤Ä¤â¤Ç¤¤ë | »éËüð¤Ï¤È¤¯¤ËǯÎ𤬹⤯¤Ê¤ë¤È¿¤¯¤Î¸¤¼ï¤Ë¸«¤é¤ì¤ëÎÉÀ¤ÎÆðÉô¼ðáç¡£È󤬤óÀ¤Î»éËÃÁÈ¿¥¤ÎÁý¿£¡£ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
391 |
Lissencephaly and cerebellar hypoplasia ³êǾ¾É¤È¾®Ç¾¤Î·ÁÀ®ÉÔÁ´ |
´éËư۾¤Æ¤ó¤«¤óȯºî¡¢Ç¾À¤Þ¤Ò¡¢Æâ¡´ñ·Á | »ú¤Î¤´¤È¤¯Ç¾¤ÎɽÌ̤¬³ê¤é¤«¡¢ÂçǾµ¡Ç½ÉÔÁ´¡£Ç¾¤Î·ÁÀ®°Û¾ï¤ÎÄøÅ٤ǽžÉÅÙ¤¬°Û¤Ê¤ë¡£³¥Çò¼ÁǾ¹Â·ÁÀ®¤Î·çÇ¡¡£Ê»È¯¤¹¤ëÆâ¡´ñ·Á¤äÓë²¼¾ã³²¤Î±Æ¶Á¤ò¼õ¤±Î¥Æý´ü¤Þ¤Ç¤ÎÁá´ü»àË´¤Î²ÄǽÀ¤¬¹Í¤¨¤é¤ì¤ë | unknown | ¥é¥µ¥¢¥×¥½ |
392 |
Lumbosacral junction, skeletal morphology and morphometry ??? |
¹ü³Ê·ÁÂÖ¤ÈÂη¿Â¬Äê¤Ë¤ª¤±¤ëÀç¹ü·ë¹çÉô | ɵ¤¤Ç¤Ï¤Ê¤¤ | * | G¥·¥§¥Ñ |
393 |
Lundehund syndrome ¥ë¥ó¥Ç¥Õ¥ó¥È¾É¸õ·² |
¥ë¥ó¥Ç¥Õ¥ó¥È¼ï¤Î°ßIJ¾ã³² |
Lundehund¡¢¥Î¥ë¥¦¥§¥¤¥¸¥¢¥ó¡¦¥Ñ¥Õ¥£¥ó¡¦¥É¥Ã¥°¡£»Í»è¤Î´ØÀá¤ÎÆÈÆäνÀÆðÀ¤È¿´ØÀáÀ¤òÆÃħ¤È¤¹¤ë¥Î¥ë¥¦¥§¡¼¸¶»º¤Î¸¤¼ï¡£¸Å¤¤¸¤¼ï¤À¤¬°ìÅÙÀäÌÇ¤Î´íµ¡¤ËÉΤ·¤½¤ÎºÝ¤Ë°äÅÁ»Ò¥×¡¼¥ë¤¬¶Ëü¤Ë¶¹¤Þ¤Ã¤¿¤¿¤á½ÅÅ٤ΰßIJ¼À´µ¤ËËÁ¤µ¤ì¤¿Øí´µ¸¤¤ÎÉÑÅÙ¤ò¹â¤á¤Æ¤¤¤ë CLUB OF AMERICA¤ÎHealth¤Î¥Ú¡¼¥¸ |
unknown | ¥ë¥ó¥Ç¥Õ¥ó¥È |
394 |
Lymphoedema ¥ê¥ó¥ÑÉâ¼ð |
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¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
395 |
Lymphoma, generic ¥ê¥ó¥Ñ¼ð |
¥ê¥ó¥Ñ·Ï¤ÎÁÈ¿¥¤«¤éȯÀ¸¤¹¤ë¼ðáç | ¥ê¥ó¥Ñ¼ð¤ÏÂ礤¯Ê¬¤±¤Æ¥Û¥¸¥¥ó¤ÈÈó¥Û¥¸¥¥ó¤¬¤¢¤ë¡£¥Û¥¸¥¥ó¥ê¥ó¥Ñ¼ð¤ÏȯǮ¤äÁ´¿È¤Îáڤߤ¬½Ð¤ë¤³¤È¤â¤¢¤ë | unknown | * |
396 |
Lymphoma, non-Hodgkin Èó¥Û¥¸¥¥ó¥ê¥ó¥Ñ¼ð |
Äˤߤξ¯¤Ê¤¤¥ê¥ó¥ÑÀá¤Î¼ðı | ¥Û¥¸¥¥óÉÂ(¥Û¥¸¥¥ó¥ê¥ó¥Ñ¼ð)°Ê³°¤Î¤¹¤Ù¤Æ¤Î°À¥ê¥ó¥Ñ¼ð·²¡£(2012/7ÄɲÃ) | unknown | * |
397 |
Lymphoproliferative disease ¥ê¥ó¥ÑÁý¿£À¼À´µ |
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398 |
Lysosomal storage disease ¥é¥¤¥½¥¾¡¼¥àÃßÀÑÉ |
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399 |
Macular corneal dystrophy ²«ÈóÑË쥸¥¹¥È¥í¥Õ¥£ |
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400 |
Malignant hyperthermia °À¹âÇ® |
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