¸¤¼ïḚ̂äÅÁÀ¼À´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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201 |
Elbow disease ɪ´ØÀá¼À´µ |
Á°»è¤Î·ÁÂÖ°Û¾ï¤ÈÊâ¹Ô¾ã³²¡¢ìì¹Ô¤ÎÄøÅ٤Ϥµ¤Þ¤¶¤Þ | ÀèÅ·À¤Îɪ¤Î´ØÀá¤Î¼À´µ¤ÎÁí¾Î¡£¹üËì±ê¡¢´ØÀá±ê¡£Éª´ØÀá¤ÎÃÇÊÒ²½¡¢Æð¹üÍÍÉÂÊÑ¡¢Æð¹ü¤ÎµµÎö¤«¤éÆâ¦îì¾õÆÍµ¯¤ÎÎΰè¤ËÉÂÊÑ¡£·ÚÅ٤Ǥâ¾ÍèŪ¤ËÊÑ·ÁÀ´ØÀá±ê¤Ë¿Ê¤à¥±¡¼¥¹¤¬Â¿¤¤ | unknown | ¿ |
202 |
Elbow dysplasia ɪ´ØÀá·ÁÀ®ÉÔÁ´ |
Á°»è¤Îìì¹Ô¡¢±¿Æ°ÉÔÂÑ¡¢´ØÀá±ê | ¾åÏÓ¹ü¤ÈÁ°ÏÓ¹ü¤ò¤Ä¤Ê¤°Éª´ØÀá¤Î·ÁÀ®¤Ë°Û¾ï¤¢¤ë¾õÂÖ¡ÊÉôʬŪ¤Ê´ñ·Á¡Ë | unknown | ¥ì¥È¥ê¥Ð¡¼¡¢¥í¥Ã¥È |
203 |
Elbow luxation ɪ´ØÀáæ±± |
³°¤ì¤¿´ØÀá¼þ°Ï¤ÎÄˤߡ¢¼ð¤ì¡¢µ¡Ç½¾ã³²¡¢Ä̾ï¤Ïξ¦À | ɪ¤Î´ØÀ᤬´°Á´¤Ë³°¤ì¤ë¡£Ã¦±±¡Ê¤À¤Ã¤¤å¤¦¡¢dislocation, luxation¡Ë¤È¤Ï¡¢´ØÀá¤ò¹½À®¤¹¤ë¹üƱ»Î¤Î´ØÀáÌ̤¬Àµ¤·¤¤°ÌÃÖ´Ø·¸¤ò¼º¤Ã¤Æ¤¤¤ë¾õÂÖ¡£ ÏӼܴØÀáæ±±¡¢ÏÓÜö´ØÀáæ±±¡¢Â¿È¯ÀÀèÅ·À¹ü³Ê°Û¾ï¤Ëȼ¤¦´ØÀá·ÁÀ®ÉÔÁ´¤Î3¤Ä¤Î¥¿¥¤¥×¤ËʬÎव¤ì¤ë¡£ÄøÅ٤ˤè¤ê´°Á´Ã¦±±¤ÈÉÔ´°Á´Ã¦±±¡Ê°¡Ã¦±±¡Ë¤ËʬÎव¤ì¤ë | unknown | ¥¥ã¥Ð¥ê¥¢ |
204 |
Elbow subluxation ɪ´ØÀᰡæ±± |
³°¤ì¤¿´ØÀá¼þÊÕ¤ÎÄˤߡ¢¼ð¤ì¡¢µ¡Ç½¾ã³² | ɪ¤Î´ØÀ᤬ÉÔ´°Á´¤Ë³°¤ì¤ëÉÔ´°Á´Ã¦±± | unknown | * |
205 |
Elliptocytosis ÂʱßÀÖ·ìµå¾É |
Genes: SPTB ÉÏ·ì¤Þ¤¿¤ÏÍÏ·ì¤Þ¤¿¤ÏξÊý¤È磼𡢴Î磼ð |
ËìÃÁÇò¤Î°Û¾ï¤Çµ¯¤³¤êÀÖ·ìµå¤¬Âʱ߷¿¤â¤·¤¯¤ÏÍñ·¿¤Ç¡¢ÀÖ·ìµåɽÌÌÀѤ¬¸º¾¯¤¹¤ë¤¿¤áç£Â¡¤ÎÈù¾®½Û´Ä¤òÄ̲᤹¤ë¤Î¤ËɬÍפÊÀÖ·ìµå¤Î½ÀÆðÀ¤¬Â»¤Ê¤ï¤ì¤Æ¤Îç£Â¡ÆâÍÏ·ì¡£
¿»Ø¤Ê¤É¤ÎÀèÅ·À¹ü³Ê°Û¾ï¤¬È¼¤¦¤³¤È¤â¤¢¤ë |
AD | * |
206 |
Encephalomyelopathy ǾÀÔ¿ñ¾ã³² |
Ǿ¤äÀÔ¿ñ¤Ë¤Ê¤ó¤é¤«¤ÎÉÂŪÌäÂ꤬¤¢¤ë¾õÂÖ¤ÎÁí¾Î | ÀÔ¿ñ¤¬¾ã³²¤ò¼õ¤±¤ÆÀ¸¤¸¤ë±¿Æ°¾ã³²¡¦´¶³Ð¾ã³²¤ò¤ß¤ëÉÂÂÖ¡£¥ß¥¨¥í¥Ñ¥·¡¼ | unknown | * |
Encephalomyelopathy and polyneuropathy ǾÀÔ¿ñ¾ã³²¤È¿ȯÀ¿À·Ð¾ã³² |
µ¯Î©ÉÔǽ | À¸¸å6½µ¤³¤í¤«¤éÉÔÁ´¤Þ¤Ò | AR | ¥Ï¥¹¥¡¼ | |
207 |
Endocardial fibroelastosis ¿´ÆâËìÀþ°ÝÃÆÀ¾É |
¿·À¸»ù´ü¤ÎÓ®ÆýÉÔÎÉ¡¢À®Ä¹ÉÔÎÉ¡¢¿´ÉÔÁ´ | ¿´ÆâËì¤ÎÈî¸ü¤Ë¤è¤ê¿´Â¡Æâ¹Ð¤¬³ÈÂ礹¤ë¤¿¤á¼ý½Ìµ¡Ç½¤¬Ãø¤·¤¯Äã²¼¡¢Í½¸åÉÔÎÉ | unknown | ¥°¥ì¥Ç¥ó |
208 |
Endotoxin shock ¥¨¥ó¥É¥È¥¥·¥ó¡¦¥·¥ç¥Ã¥¯ |
¥·¥ç¥Ã¥¯¾õÂÖ | ¶ÝÂÎÆâÆÇÁÇ¡£ÈùÀ¸Êª¤Î´¶À÷¤¬ÂÎÆâ¤Î·ì±ÕÃæ¤ËµÚ¤Ó¡¢¿¯Æþ¤·¤¿¥°¥é¥à±¢À¶Ý¤¬²õ¤ì¡¢¥°¥é¥à±¢À¶Ý¤ÎºÙ˦Êɤˤ¢¤ë¥¨¥ó¥É¥È¥¥·¥ó¡ÊÆâÆÇÁǡˤȤ¤¤¦Êª¼Á¤¬Â¿Î̤ËÊü½Ð¤µ¤ì¡¢À¸ÂΤÎÌȱÖÈ¿±þ¤¬Ð¶¿Ê¤·¤¿ºÝ¤Ë¤ª¤Á¤¤¤ë¥·¥ç¥Ã¥¯¾õÂÖ | unknown | * |
209 |
Entropion ´ãâÛÆâÈ¿¾É¡¢âÌÌÓÆâÈ¿¾É |
µÕ¤Þ¤Ä¤² | µÕ¤Þ¤Ä¤² | unknown | ¿¡¢Ç¡¢ÇÏ¡¢ÍÓ |
210 |
Epidermolysis bullosa ɽÈé¿åá×¾É |
¾®¤µ¤Ê³°½ý¤«¤é¿åË¢¤äÄÙáç¡¢ÄÞ¤ÎæÍî |
ÀèÅ·À¤ª¤è¤Ó¸åÅ·À¤ÎÈéÉæÇ´Ëì¿åá׾ɤÎÁí¾Î¡£ÈéÉæ¤ª¤è¤ÓÇ´Ëì¤Î¶ËÅÙ¤ÎÀȼåÀ¤òÆÃħ¤È¤·¡¢Â¿È¯ÀÄÙá礬»õ·Ô¡¢¹Å¡¦Æð¸ý³¸¡¢¿°¤ÎÇ´Ëì¡¢ËËÇ´Ë줪¤è¤ÓÀå¤ÎÇØÉô¤Ë´Ñ»¡¤µ¤ì¤ë ɽÈé¿åá׾ɤȤÏɽÈé¡Á´ðÄìËì¡Á¿¿Èé¤ÎÀÜÃå¤òô¤¦ÀÜÃ幽¤ʬ»Ò¤¬À¸¤Þ¤ì¤Ä¤¾¯¤Ê¤¤¤«¾Ã¼º¤·¤Æ¤¤¤ë¤¿¤á¡¢Æü¾ïÀ¸³è¤ÇÈéÉæ¤Ë²Ã¤ï¤ëÎϤËÂѤ¨¤ë¤³¤È¤¬¤Ç¤¤º¤ËɽÈ餬¿¿È餫¤éÇí¤¬¤ì¤Æ¿åáפäÈéÉæÄÙáç¤òÀ¸¤¸¤ë |
unknown | * |
211 |
Epidermolysis bullosa, dystrophic ±ÉÍܾ㳲·¿É½Èé¿åá×¾É |
ÈéɿɽÌ̤˿åá× |
Genes:COL7A1 ɽÈé¿åá׾ɤΤ¦¤Á´ðÄìËì¤È¿¿Èé¤Î´Ö¤ÇÇí¤¬¤ì¤ëÉ·¿ |
AR | ½©Åĸ¤¡¢¥´¡¼¥ë¥Ç¥ó |
212 |
Epidermolysis bullosa, junctionalis, LAMA3 ÀܹçÉô·¿É½Èé¿åá×¾É |
À¸¤Þ¤ì¤Ä¤´é¡¢Æ¹¡¢»Í»è¤Ë¿§ÁÇÄÀÃå¤äæÌӾɡ¢¤Ó¤é¤ó¤ä°à½ÌÀÈ©¡¢ÄÞ¥¸¥¹¥È¥í¥Õ¥£¡¼ |
Gene: LAMA3 °×´¶À÷À¤ò¼¨¤¹¥¿¥¤¥×¤Ïͽ¸åÉÔÎÉ¡£¥¨¥Ê¥á¥ë¼Á·ÁÀ®ÉÔÁ´¤òȼ¤¦·Ú¾ÉÎã¤ÇºÑ¤à¥¿¥¤¥×¤â¤¢¤ë¡£ ɽÈé¿åá׾ɤΤ¦¤ÁɽÈé¤È´ðÄìËì¤Î´Ö¤ÇÇí¤¬¤ì¤Æ¿åáפ¬¤Ç¤¤ëÉ·¿ |
AR | G¥Ý¥¤¥ó¥¿¡¼¡¢»¨¼ï |
213 |
Epidermolysis bullosa, simplex ñ½ã·¿É½Èé¿åá×¾É |
¼ê¡¢´é¡¢¿°¡¢¼ª¤Î¹üδµ¯¡¢´ØÀá¾å¤ÎÈéÉæ¤Ë¿åá× |
1977ǯȯ¹Ô¤Î¥¢¥á¥ê¥«½Ã°å»Õ²ñ»¨»ï¤Ë¤è¤ë¤È¿ÇÃǤµ¤ì¤¿4Ƭ¤Î¥³¥ê¡¼¤Î¤¦¤Á3Ƭ¤¬À¸¸å6¥õ·î̤Ëþ¤À¤Ã¤¿¡£¿åË¢¤Î¤Û¤«Ã¦ÌӾɡ¢¹ÈÈá¢Éâ¼ð¡¢¹ÈÈᢤӤé¤ó¡¢ÄÙáç¡¢áÐÈé¡¢°à½Ì¡¢¿§ÁÇÀÊѲ½¡£³°½ý¤ËͶȯ¤µ¤ì¤Æ¿åË¢¤¬½ÐÍè¤ë¥±¡¼¥¹¤â³Îǧ¤µ¤ì¤Æ¤¤¤ë¤â¤è¤¦¡£ ɽÈé¿åá׾ɤΤ¦¤ÁɽÈ餬ÀéÀÚ¤ì¤Æ¿åáפ¬¤Ç¤¤ëÉ·¿ |
unknown | ¥³¥ê¡¼ |
214 |
Epidermolysis bullosa, simplex, PLEC PLEC·¿Ã±½ãɽÈé¿åá×¾É |
¿°¡¦À塦ɡ¡¦¥Ñ¥Ã¥É¡¦Ê¢Éô¤ËɽÈéÇíÎ¥á׿¾¡¦ÄÙáç |
Gene: PLEC À¸¸å¤¹¤°¤Ëȯ¾É¤¬¤ß¤é¤ì¤ë¤è¤¦¤À¡£¤¢¤Þ¤ê¤Ë¤âµ¤¤ÎÆÇ¤ÇÀµ»ëº¤Æñ¤Ê¿·À¸»Ò²èÁü¥¢¥ê NCBIEpidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant.¡¡Ä̾ï°Â³Ú»¦ |
AR | ¥æ¡¼¥é¥·¥¢ |
215 |
Epilepsy ¤Æ¤ó¤«¤ó |
°Õ¼±¤ò¼º¤Ã¤ÆÈ¿±þ¤Î¤Ê¤¯¤Ê¤ë¤Æ¤ó¤«¤óȯºî | ǾºÙ˦¤Î¥Í¥Ã¥È¥ï¡¼¥¯¤Ëµ¯¤¤ë°Û¾ï¤Êȯ²Ð(¤Æ¤ó¤«¤óÊüÅÅ)¤Î¤¿¤á¤Æ¤ó¤«¤óȯºî¤òÍ褹¼À´µ¤¢¤ë¤¤¤Ï¾É¾õ | AR | ¿ |
216 |
Epilepsy, benign familial juvenile ÎÉÀ²È²À¼ãǯÀ¤Æ¤ó¤«¤ó |
¤Æ¤ó¤«¤ó»²¾È |
Gene: LGI2 |
AR | ¿ |
217 |
Epilepsy, generalized myoclonic, with photosensitivity ¸÷´¶¼õÀ¤òȼ¤¦¥ß¥ª¥¯¥í¡¼¥Ì¥¹¤Æ¤ó¤«¤ó |
¤Æ¤ó¤«¤ó»²¾È | À¸¸å6½µ¤«¤é18¥õ·î¤Î´Ö¤Ëȯ¾É¤¬¤ß¤é¤ì¤Æ¤¤¤ë¤è¤¦¤À¡£¥Ò¥È¥ß¥ª¥¯¥í¡¼¥Ì¥¹â¡áò¤Î¥â¥Ç¥ëŪÌò³ä¸¦µæ¤¬´üÂÔ¤µ¤ì¤ë | AR | ¥í¡¼¥Ç¥·¥¢¥óRB |
218 |
Episodic falling ȯºîÀžÅÝ |
¶½Ê³¤ä±¿Æ°¤ËͶȯ¤µ¤ì¤ëȯºî¡¢¶Ú¶ÛÄ¥ |
Gene: BCAN 1ºÐ°ÊÁ°¤Ëȯ¾É ¥¤¥®¥ê¥¹¡¡The Animal Health Trust¤Ë¤Æ¥¥ã¥Ð¥ê¥¢¤Î°äÅÁ»Ò¸¡ºº¤¢¤ê |
AR | ¥¥ã¥Ð¥ê¥¢ |
219 |
Epistaxis É¡½Ð·ì |
É¡½Ð·ì | 2005ǯ¤Î¥Î¡¼¥¹¥«¥í¥é¥¤¥ÊÂç³Ø¤ÎÄ´ºº¤ÇÉ¡½Ð·ì¤Î3³ä¤Î¸¤¤¬¥Ð¥ë¥È¥Í¥é¾É(ǤҤ䫤ÉÂ)´¶À÷¤Ë´ØÍ¿¤·¤Æ¤¤¤¿Êó¹ð¤¬¤¢¤ë | unknown | * |
220 |
Exercise-induced collapse ±¿Æ°Í¶È¯Àµõæ |
·ã¤·¤¤±¿Æ°¸åȯǮ¡¢²¼È¾¿È¤Îµõæ¡¢áÛÚ»¡£¤Þ¤ì¤Ë»àË´ |
Genes:DNM1 À¸¸å5¥ö·î¡Á3ºÐ¤¯¤é¤¤¤Þ¤Ç¤Ëȯ¾É |
AR | ¥é¥Ö¥é¥É¡¼¥ë¡¢C¥ì¥È¥ê¥Ð¡¼ |
221 |
Exfoliative cutaneous lupus erythematosus ÇíÎ¥ÀÈéÉæ¥¨¥ê¥Æ¥Þ¥È¡¼¥Ç¥¹ |
Á´¿È¤ËáÐÈ顢ǿáס¢µÖ¿¾¡¢¹ÈÈá¢Ã¦ÌÓ¡¢ìì¹Ô¤È´ØÀáÄˤΤ¿¤áÇÇØ¡¢ÄãÀº»Ò¡¢È¯¾ð¼þ´ü°Û¾ï¡¢¥ë¡¼¥×¥¹¿Õ±ê | Á´¿ÈÀ¥¨¥ê¥Æ¥Þ¥È¡¼¥Ç¥¹¡¢±ßÈľõ¥¨¥ê¥Æ¥Þ¥È¡¼¥Ç¥¹¡¢Â¿·ÁÀ¹ÈÈäè¤êȯ¾ÉǯÎð¤¬Ä㤤¡£Èó¾ï¤Ë½ÅÅÙ¤ÎÈéɿɠ| AR | GS¥Ý¥¤¥ó¥¿¡¼ |
222 |
Exophthalmos with strabismus *´ãµåÆÍ½ÐµÚ¤Ó¼Ð»ë |
»ëÎϾ㳲 |
°ìÈÌŪ¤Ë´ããݤ¬Àõ¤¤¤³¤È¤Ë¤è¤êÌ̤ܶ¬½Ð¤ÃÄ¥¤ë¾õÂÖ¤ò¤¤¤¦¡£Æó¼¡Åª¤Ë³ÑËì¤Ê¤É¤Î±ê¾É¤ä¥Á¥§¥ê¡¼¥¢¥¤ »²¹Í¡¨Open Veterinary Journal (2015), Vol. 5¡¡¡Ê±Ñʸpdf¡Ë ¡ØExtraocular myositis in a female puppy¡Ù |
unknown | ¥Ñ¥°¡¢¥·¡¼¥º¡¼¡¢¥´¥ë |
223 |
Exostosis, multiple ¿ȯÀ³°¹ü¼ð |
¹ü¤ÎÀ®Ä¹¾ã³²¡¢¹üÊÑ·Á¡¢´ØÀá²Äư°èÀ©¸Â¡¢¾®¤Ö¤ê¡¢ÊÑ·ÁÀ´ØÀá¾É¡¢Ëö¾¿¿À·Ð¤Ø¤Î°µÇ÷¾É¾õ | Æð¹ü¤Çʤ¤ï¤ì¤¿¹ü¤ÎÎÉÀ¼ðáç¡£°À¼ðáç¡¢Æð¹üÆù¼ð¤Ë¤Ê¤ê¤ä¤¹¤¤ | ¥Ò¥È¤Ç¤ÏAD | ¥Ü¡¼¥À¡¼¡¢¥Ç¥ó |
224 |
Eye colour Ìܤο§ |
ÀÄ¿§¤ÎÌÜ | ¾®´ãµå¾É´ØÏ¢Å¾¼Ì°ø»ÒMITF¤ÎÌò³ä¤Î¸¦µæ¡¢¥À¥ë¥á¥·¥¢¥ó¤ÎÀĤ¤Ìܤȴ¶²»ÆñݤÈÇòÈäδط¸À | unknown | ¥À¥ë¥á¥·¥¢¥ó |
225 |
Eye defects ´ã·ç»¾É |
ÌܤΰìÉô¤Þ¤¿¤ÏÁ´Éô¤Îµ¡Ç½¤¬·ç»¤·¤Æ¤¤¤ë¾õÂÖ | ¸¤¤Î°äÅÁÀÌÖËìÊÑÀ¤Ï¡¢¿Ê¹ÔÀÌÖËì°à½Ì¾É¡¢ÌÖËì¿§ÁǾåÈ饸¥¹¥È¥í¥Õ¥£¡¼¡¢ÀèÅ·ÀÄê¾ïÌëÌÕ¡¢ÃëÌդʤɤ¬¤¢¤ë | unknown | ¤ª¤½¤é¤¯Á´¸¤¼ï |
226 |
Factor VII deficiency Âè»(¤À¤¤¤Ê¤Ê)°ø»Ò·ç˳¾É |
¼ó¤«¤é¾å¤Î±ê¾É¤ä¼ð¤ì¡¢·ìƦ¾õ¤Î¤Ç¤¤â¤Î¡¢½Ð·ì |
Gene: F7 °ÂÄê°ø»Ò·ç˳¾É¡£Âè»°ø»Ò¤¬¶Ëü¤Ë·ç˳¤·¤¿¾õÂ֤ˤʤé¤Ê¤¤¸Â¤ê»à¤Ë»ê¤ë¤Û¤É½Å¾É¤Ê¥±¡¼¥¹¤ÏÈæ³ÓŪ¾¯¤Ê¤¤¡£·ì±Õ¶Å¸Ç¤Î¥×¥í¥»¥¹¤ò²Ã®¤¹¤ëÀ¼Á¤ò»ý¤Ä¤¿¤ó¤Ñ¤¯¼Á¤Î·ç˳¤À¤¬¡¢¤¤¤Ä¤Î¤Þ¤Ë¤«²ø²æ¤ò¤·¤Æ¾¯Î̤νз줬¤¢¤ë¤¬¸¤¤¬µ¤¤Ë¤·¤Ê¤¤¤Ê¤ÉÌÀ¤é¤«¤Ê¾É¾õ¤¬½Ð¤Ë¤¯¤¯¡¢Æ°ÊªÉ±¡¤Ç¶öÁ³¤Ëȯ³Ð¤¹¤ë¤è¤¦¤Ê¥±¡¼¥¹¤¬Â¿¤¤¡£ ·ì±ÕÃæ¤Î¶Å¸Ç°ø»Ò¤ÎÀèŷŪ¤Ê·ç˳(¤³¤¦¤¤¤Ã¤¿Éµ¤¤ÎÂåɽÎã¤Ï·ìͧÉÂ)¡£¶Å¸Ç°ø»Ò¤Ï12¼ïÎढ¤ê(Â躤ò½ü¤¤¤ÆÂ赤«¤éÂè¾·¤Þ¤Ç)¤½¤ÎÃæ¤Î¤É¤ì¤¬·ç˳¤·¤Æ¤¤¤ë¤«¤Ç¾É¾õ¤¬°ã¤¦ |
AR | ¥Ó¡¼¥°¥ë¡¢¥Ð¥»¥Ã¥È¡¢¥Þ¥é¥ß¥å¡¼¥È¡¢¥¨¥¹¥¥â¡¼ |
227 |
Factor X deficiency ÂèX(¤À¤¤¤¸¤å¤¦)°ø»Ò·ç˳¾É |
Èæ³ÓŪ½ÅÅÙ¤ÎÆâ½Ð·ì(¤¢¤¶) | ¥¹¥Á¥å¥¢¡¼¥È-¥×¥é¥¦¥¢¡¼°ø»Ò·ç˳¾É¡£¾É¾õ¤Ï·ÚÅÙ¤«¤é½ÅÅ٤ޤǸÄÂκ¹¤¬¤¢¤ë¤¬°ìÈ̤˷ìͧɤÈÈæ¤Ù¤ë¤È½Ð·ì¤Ï·ÚÅ٤ǡ¢¼ã¤¤¤Û¤É¥ê¥¹¥¯¤¬¹â¤¯¿·À¸»ù»àË´¤¬¤è¤¯¤¢¤ë¡£·ÚÅÙ¡ÁÃæÄøÅÙ¤ÇÀ®¸¤¤ËÀ®Ä¹¤·¤¿¸¤¤Ï¼ê½Ñ¤Ê¤ÉÆÃ¼ì¤Ê¾ì¹ç¤ò½ü¤¤¢¤Þ¤ê½Ð·ì¤¬µ¯¤¤Ê¤¤¤³¤È¤â¡£·ì±ÕÃæ¤ËÄ̾︺ߤ·¤Æ¤¤¤ë·ìÀò¤ò·ÁÀ®¤¹¤ë¤¿¤ó¤Ñ¤¯¼Á¤¬·ç˳¤¹¤ë¤³¤È¤Ë¤è¤ëÆâ½Ð·ì | AR¤« | A¥³¥Ã¥«¡¼¡¢E¥³¥Ã¥«¡¼¡¢¥¸¥ã¥Ã¥¯¡¢Â¾¥Æ¥ê¥¢¼ï |
228 |
Factor XI deficiency Âè¾µ(¤À¤¤¤¸¤å¤¦¤¤¤Á)°ø»Ò·ç˳¾É |
³°½ý¤äÈ´»õ¡¢³°²Ê¼ê½Ñ¸å¤Î½Ð·ì²á¿ |
Gene: F11 ·ìÞù¥È¥í¥ó¥Ü¥×¥é¥¹¥Á¥óÁ°¶îʪ¼Á(PTA)·ç˳¾É¡¢¥í¡¼¥¼¥ó¥¿¡¼¥ë¾É¸õ·²¡£½Ð·ì¤Ï¤·¤Ð¤·¤ÐÃ×̿Ū¡£·ì±Õ¤Î¶Å¸Ç¤ËɬÍפʤ¿¤ó¤Ñ¤¯¼Á¤Î·ç˳¤À¤¬Æâ½Ð·ì¡¦¼«Á³½Ð·ì¤Ï¤¢¤Þ¤ê¸«¤é¤ì¤Ê¤¤ |
AR¤« | E¥¹¥×¡¢¥±¥ê¡¼¥Ö¥ë¡¼¡¢¥Ô¥ì |
229 |
Factor XII deficiency Âè¾¶(¤À¤¤¤¸¤å¤¦¤Ë)°ø»Ò·ç˳¾É |
·ìÇ¢¡¢·ìÊØ¡¢ÅÇ·ì¡¢½Ð·ì»þ´Ö±äĹ | ¥Ï¡¼¥²¥Þ¥ó°ø»Ò·ç˳¾É¡£ÅǤ·¤ãʪ¤äÇ¢¤äÊØ¤Ë·ì¤¬º®¤¸¤ëÄøÅÙ¤ÇÆâ½Ð·ì¤â¾¯¤Ê¤á¡¢²ø²æ¤Î»þ¤Ï·ì¤¬»ß¤Þ¤ê¤Ë¤¯¤¤¤«¤â¤·¤ì¤Ê¤¤¡£Â¾¤Î·ì±Õ¶Å¸Ç°ø»Ò¤Î·ç˳¾É¤È¤Ï°Û¤Ê¤ê¤è¤Û¤É¤ÎÂçÎ̽зì¤Ç¤â¤Ê¤±¤ì¤Ð½Ð·ì»à¤Î¥ê¥¹¥¯¤¬Äã¤á¤À¤¬¡¢·ì±ïÆâ(²È²À)¤Ç¥Õ¥©¥ó¥¦¥£¥ë¥Ö¥é¥ó¥ÉÉ¡¦ÍÏ·ìÀÉϷ졦¥×¥ì¥«¥ê¥¯¥ì¥¤¥ó·ç˳¾É¤Îȯ¾É¤Þ¤¿¤ÏƱ»þȯÀ¸¤ÎÎ㤢¤ê | AR | ¥×¡¼¥É¥ë¡¢¥Ð¥»¥ó¥¸¡¼¡¢C¥·¥ã¡¼¥Ú¥¤ |
230 |
Fanconi syndrome ¥Õ¥¡¥ó¥³¥Ë¾É¸õ·² |
ȯ°éÉÔÁ´¡¢Â¿°û¿Ǣ¡¢¤¯¤ëÉ¡¢¹üÆð²½¾É¡¢¶ÚÎÏÄã²¼ |
¿Õ¶á°ÌÇ¢ºÙ´É¤Î¾ã³²¤Ë¤è¤ëÅüÇ¢¡¢¥ê¥ó»ÀÇ¢¡¢ÈÆ¥¢¥ß¥Î»ÀÇ¢¡¢HCO3¤ÎÁÓ¼º(Ç¢ÃæÏ³½Ð¾É)¡£
¥·¥¹¥Á¥óÇ¢¾É¤Î¾¥¦¥£¥ë¥½¥óɤäÅü¸¶É¤ò¹çÊ»¤¹¤ë¤³¤È¤â¤¢¤ë¡£¤Þ¤¿¥·¥¹¥Á¥óÇ¢¾É¤¬¸¶°ø¤Ç¥Õ¥¡¥ó¥³¥Ë¡¼¾É¸õ·²¤¬È¯À¸¤¹¤ë¾ì¹ç¤ÏÀ®Ä¹ÃÙ±ä¤ÈÌÖËì¤ËÈþõ¤Î¿§ÁÇæ¼º¤¬¤¢¤ê¿Ê¹ÔÀ¿ÕÉÔÁ´¤ÇÁá´ü»àË´¤È¤Ê¤ê¤ä¤¹¤¤ |
¾ïÀ÷¿§ÂÎÀ | ¥Ð¥»¥ó¥¸¡¼ |
231 |
Fibrodysplasia ossificans ¿Ê¹ÔÀ¹ü²½ÀÀþ°Ý°Û·ÁÀ®¾É |
¥Ò¥È¤Ç¤ÏÀ¸¤Þ¤ì¤Ä¤Ã»¤¯Â礤ÊÄޤȳ°È¿Êììæ¤¬¤¢¤ê³ØÆ¸´ü¤ËºÇ½é¤Î¾É¾õ¤¬¸½¤ì¤ë |
Á´¿È¤Î·ë¹çÁÈ¿¥¤¬½ù¡¹¤Ë¹ü²½¤¹¤ë¼À´µ¡£ »÷¤Æ¤¤¤ëɵ¤¤Ç¾É¾õ¤Î·Ú¤¤¼À´µ¤ÏÀþ°ÝÀ¹ü°Û·ÁÀ®¡£ |
¥Ò¥È¤Ç¤ÏAD | G¥·¥§¥Ñ¡¢Ç |
232 |
Focal metatarsal fistula ¶É½êÀÃæÂ¹üáñ¹¦ |
¸å¤í¤ιäξå¤ÎÉôʬ¤Ë´É¾õ¤Î·ê¤¬¤¢¤ë¾õÂÖ |
ʬÈçʪ¤¬½Ð¤Æ´¶À÷¡¢±ê¾É¡¢ÄÙáç²½¤«¤éÊâ¹Ô¤Ë»Ù¾ã¤¬½Ð¤ë¾ì¹ç¤â¤¢¤ë¤¬Ä̾ïÌ¿¤ËÊ̾õ¤Ï̵¤¤¡£ áñ¹¦(¤í¤¦¤³¤¦)¤ÏÈéÉæ¡¦Ç´Ëì¤ä¡´ï¤ÎÁÈ¿¥¤Ë¡¢±ê¾É¤Ê¤É¤Ë¤è¤Ã¤ÆÀ¸¤¸¤¿´É¾õ¤Î·ê¡£ÂÎÆâ¤ÇÏ¢Íí¤¹¤ë¤â¤Î¤È¡¢ÂÎɽ¤Ë³«¸ý¤¹¤ë¤â¤Î¤È¤¬¤¢¤ë |
unknown | G¥·¥§¥Ñ |
233 |
Follicular dysplasia and interface dermatitis Ʊ»þßÉ˦À·ÁÀ®°Û¾ï¡¡*¥¤¥ó¥¿¡¼¥Õ¥§¥¤¥¹ÀÈéÉæ±ê |
ßÉ˦À°Û·ÁÀ®¤È³¦ÌÌÈéÉæ±ê¤¬Æ±»þ¤Ëµ¯¤³¤ë | ³¦ÌÌÈéÉæ±ê¤È¤Ï¥¢¥È¥Ô¡¼¤ä¥¢¥ì¥ë¥®¡¼È¿±þ¤äSLE¤Ê¤ÉÌȱÖÈ¿±þ¤Ëµ¯°ø¤¹¤ë¿¿Èé¤ÈɽÈé¤Î¶³¦Éôʬ¡Ê³¦Ì̡ˤαê¾ÉÀÉÂÊÑ | unknown | ¥Ü¥¯¥µ¡¼ |
234 |
Fragile site ÀȼåÉô |
ÍÍ¡¹ | À÷¿§Âξå¤ÎÀȤ¯¼å¤¤Éôʬ¡£ÀÚÃÇ¡¢Å¾ºÂ¡¢ÁýÉý¡¢·ç¼º¤Ê¤É¤¬µ¯¤³¤ê¤ä¤¹¤¤Éô°Ì | unknown | * |
235 |
Fragmented coronoid process ÃÇÊÒ²½îì¾õÆÍµ¯ |
Á°»è¤ÎÄˤߡ¢ìì¹Ô | ɪ´ØÀá·ÁÀ®ÉÔÁ´¡£Æâ¦¤Îîì¾õÆÍµ¯¤¬ÃÇÊÒ²½¤·¤¿Éª¤Îȯ°éÉÔÁ´¤Ç¿¤¯¤Ïξ¦À¤À¤¬°²½ÄøÅÙ¤¬º¸±¦¤Ç°ã¤¦¤ÈÊÒ¦¤ò¤«¤Ð¤¦¤³¤È¤â | unknown | ¥Á¥ï¥ï¡¢¥é¥Ö¡¢¥Ð¥Ë |
236 |
Fucosidosis, alpha ¦Á-¥Õ¥³¥·¥É¡¼¥·¥¹ |
Àº¿À±¿Æ°È¯Ã£ÃÙÂÚ¡¢¾®¤Ö¤ê¡¢°×´¶À÷À¡¢Â¿È¯À¹ü·ÁÀ®ÉÔÁ´¡¢Èï³Ñ·ì´É¼ð¡¢´ØÀá¹´½Ì¡¢¤±¤¤¤ì¤óȯºî¡¢´Îç£¼ð¡¢Æñİ¡¢¥Ø¥ë¥Ë¥¢¡¢»ëÎϾ㳲 |
Genes:FUCA1 ¦Á-L-¥Õ¥³¥·¥À¡¼¥¼·ç»¤Ë¤è¤ëºÙ˦¥é¥¤¥½¥¾¡¼¥àÆâ¤Ø¤Î¥ª¥ê¥´ÅüÃßÀÑ¡£¥Ò¥È¤Î¾ì¹ç¤Ï2·¿¤Ëʬ¤±¤é¤ì¤ë¤³¤È¤¬Â¿¤¯¿Ê¹Ô¤ÎÁᤤ½Å¾É·¿¤ÈÈï³Ñ·ì´É¼ð¤òȼ¤¦¿Ê¹Ô¤Î´Ë¤ä¤«¤Ê·Ú¾É·¿¤¬ÃΤé¤ì¤ë¡£Èï³Ñ·ì´É¼ð¤È¤ÏɽÌ̤˲á¾ê¤Ê³Ñ²½¤òȼ¤¦·ì´É¼ð¡ÊµÖ¿¾¡Ë¤Î°ì¼ï¤Ç¾¯¤··ì¤Îº®¤¸¤Ã¤¿¤«¤µ¤Ö¤¿¤Î¤è¤¦¤Ë¤·¤«¸«¤¨¤Ê¤¤¤â¤Î¤â¤¢¤ë¡Ê°ìÈÌ»ô¤¤¼ç¤Ç¤¢¤ì¤ÐÌ¿¤¬´í¤¦¤¤Éµ¤¤Ë´Ø·¸À¤¬¤¢¤ë¤ÈÁÛÁü¤·¤Ë¤¯¤¤¡Ë |
AR | * |
237 |
Furnishings (moustache and eyebrows) ¸ý¤Ò¤²¤ÈÈýÌÓ |
* |
Genes: RSPO2 * |
¾ïÀ÷¿§ÂÎÀ | * |
238 |
Galactosialidosis ¥¬¥é¥¯¥È¥·¥¢¥ê¥É¡¼¥·¥¹ |
¹ü¤ÎÊÑ·Á¡¢´Î¡¤äç£Â¡¤Î¼ðÂç¡¢Áͷ¥إë¥Ë¥¢¡¢çÁ¥Ø¥ë¥Ë¥¢¡¢¿´ÉÔÁ´¡¢¿ÕÉÔÁ´¡¢¸ÆµÛ¾ã³²¤äÃæ¿õ¿À·Ð¾ã³²(¥ß¥ª¥¯¥í¡¼¥Ì¥¹¡¢¤±¤¤¤ì¤óȯºî) | ¥é¥¤¥½¥¾¡¼¥àÀÊݸîÃÁÇò¼Á/¥«¥Æ¥×¥·¥óA¡ÊPPCA¡Ë¤Î³èÀÄã²¼¤Ë¤è¤êÈó´Ô¸µËöü¤Ë¥·¥¢¥ë»À»Ä´ð¤ò»ý¤Ä¥ª¥ê¥´Åü¤äÅüÃÁÇò¼Á¤ª¤è¤ÓÅü»é¼Á¤¬Ê¬²ò¤µ¤ì¤º¤ËºÙ˦Æâ¤ËÃßÀѤ·¤ÆºÙ˦¤¬¾ã³²¤ò¼õ¤±¤ë¡£¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹¤È¾É¾õ¤¬»÷¤ë¤¬¤³¤Á¤é¤Ï¤ä¤ä·Ú¤¤ | unknown | * |
239 |
Gallbladder mucoceles ÃÀǹǴ±Õǹ¼ð |
²«áÕ¡ÊÇòÌܤ¬¤ï¤«¤ê¤ä¤¹¤¤¡Ë¡¢ÓÒÅÇ¡¢¿©Í߸ºÂà¡¢¸µµ¤¾ÃÄÀ¡¢ÃÀ¤Î¤¦±ê¢ªÊ¢Ëì±ê |
Genes: ABCB4¡¡chromosome: 7; Location: 7q21.1 ´Î¡Æâ¤ËÃÀ½Á¤¬¤¦¤ÃÂÚ¤¹¤ë¡£¹çÊ»¾É¤È¤·¤Æç¹±ê¡¢¹â»é·ì¾É¡¢Éû¿ÕÈé¼Á¥¹¥Æ¥í¥¤¥É²á¾ê¡¢¹Ã¾õÁ£µ¡Ç½Äã²¼¾É¡¢ÃÁÇòϳ½ÐÀ¿Õ¾É¡¢ÅüǢɡ¢ÃÀÀоɡ¢ÃÀǹ¤Î±¿Æ°¾ã³²¤Ê¤É¡£½é´ü¾É¾õ¤Î¤Ò¤È¤Ä¤È¤·¤Æ¿©Á°¤Î¹â¥³¥ì¥¹¥Æ¥í¡¼¥ë·ì¾É¡¢¹â¥È¥ê¥°¥ê¥»¥ê¥É·ì¾É¡¢¹â·ìÀ¶´Î¹ÚÁÇ¤Î³èÆ°¤¬°ìÈÌŪ¤È¤Ê¤ë¤¬Î×¾²Ãû¸õ¤Ï¾¯¤Ê¤¯¸«¤Ä¤±¤Ë¤¯¤¤ |
AR | ¥·¥§¥ë¥Æ¥£ |
240 |
Gangliosidosis ¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹ |
¼ãÎð´ü¤Î±¿Æ°¼ºÄ´¤«¤é»Ï¤Þ¤ê¡¢¤±¤¤¤ì¤óȯºî¡¢»ëÎÏÄã²¼(¼ºÌÀ)¡¢ÃÔÊòÍ;ɾõ¤Ê¤É¤òµ¯¤³¤·Áá´ü»àË´ | ¥¬¥ó¥°¥ê¥ª¥·¥É¤Î¥é¥¤¥½¥¾¡¼¥àÃßÀÑÉ¡£»é¼ÁÂå¼Õ²óÏ©Ãæ¤ÎÆÃÄê¤Î¹ÚÁǤη绤ǻé¼Á¤Î°ì¼ï¤Ç¤¢¤ë¥¬¥ó¥°¥ê¥ª¥·¥É¤¬¿À·ÐºÙ˦¤Ê¤É¤Ë°Û¾ï¤ËÃßÀѤ¹¤ë¤³¤È¤Çµ¯¤³¤ë¡£ | unknown | * |
241 |
Gangliosidosis, GM1 GM1¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹ |
Ê¢¿å¤ä»Í»è¤ÎÉâ¼ð¡¢¹üÊÑ·Á¡¢¤½¤Î¾¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹»²¾È |
Genes:GLB1 GM1¥¬¥ó¥°¥ê¥ª¥·¥É¦Â¥¬¥é¥¯¥È¥·¥À¡¼¥¼·ç»¾É¡¢¥é¥¤¥½¥¾¡¼¥àÃßÀÑÉ |
AR | * |
242 |
Gangliosidosis, GM2, generic GM2¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹ |
¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹»²¾È | ¦Â¥Ø¥¥½¥µ¥ß¥Ë¥À¡¼¥¼·ç»¾É¡¢¥é¥¤¥½¥¾¡¼¥àÃßÀÑÉ | AR | * |
243 |
Gangliosidosis, GM2, GM2A deficiency GM2¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹GM2A·ç»¾É |
¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹»²¾È | ¥é¥¤¥½¥¾¡¼¥àÃßÀÑÉ | AR | * |
244 |
Gangliosidosis, GM2, type I(B variant) ¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹GM2µ·¿ |
¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹»²¾È |
Gene: HEXA ¥Æ¥¤¡Ý¥µ¥Ã¥¯¥¹¡ÊTay-Sachs¡ËÉ ¥é¥¤¥½¥¾¡¼¥àÃßÀÑÉ¡£¥Ø¥¥½¥µ¥ß¥Ë¥À¡¼¥¼¹ÚÁǤηçÇ¡¤Ëµ¯°ø¤¹¤ëÍÍ¡¹¤ÊÁÈ¿¥¤Ë¤ª¤±¤ëGM2¥¬¥ó¥°¥ê¥ª¥·¥É¡ÊÅü»é¼Á¤Î°ì¼ï¡Ë¤ÎÃßÀÑ |
AR | ྠ|
245 |
Gangliosidosis, GM2, type II(Sandhoff or variant 0) ¥¬¥ó¥°¥ê¥ª¥·¥É¡¼¥·¥¹GM2¶·¿ |
¿Ê¹ÔÀ¤Î¿À·Ð¶Úµ¡Ç½¾ã³²¡¦À®Ä¹¾ã³² |
Gene: HEXB ¥é¥¤¥½¥¾¡¼¥àÃßÀÑÉ¡£¥Ø¥¥½¥µ¥ß¥Ë¥À¡¼¥¼¹ÚÁǤηçÇ¡¤Ëµ¯°ø¤¹¤ëÍÍ¡¹¤ÊÁÈ¿¥¤Ë¤ª¤±¤ëGM2¥¬¥ó¥°¥ê¥ª¥·¥É¡ÊÅü»é¼Á¤Î°ì¼ï¡Ë¤ÎÃßÀÑ¡£ |
AR | ¥È¥¤¥×¡¼¡¢¥´¥ë¡¢Ç |
246 |
Gastric dilatation volvulus syndrome °ß³ÈÄ¥¡¦Ç±Å¾¾É¸õ·² |
ÓÒÅÇ¢ªÅǤ¯¤½¤Ö¤ê¤¬¤¢¤ë¤¬ÅǤ±¤Ê¤¤¢ªÊ¢ÉôËÄËþ¡¢¥·¥ç¥Ã¥¯ | °ß¤Ï¿©Êª¤¬Æþ¤Ã¤Æ¤¯¤ë¤È¤â¤¾¤â¤¾¤Èư¤°ß±Õ¤òʬÈ礷¤ÆÙøÙ¤¹¤ë¤è¤¦¤Ë¾Ã²½¤·¡¢¾Ã²½¤µ¤ì¤¿¤â¤Î¤ò½ù¡¹¤ËÍ©Ì礫¤é½½Æó»ØÄ²¤Ø¤ÈÁ÷¤ê½Ð¤¹¤¬¡¢²¿¤é¤«¤Î¸¶°ø¤ÇÍ©Ì礬³«¤«¤º°ßÆâ¤Ë¿©Êª¤¬ÄäÂÚ¤¹¤ë¤È¤½¤Î°ß±Õ¤ä¥¬¥¹¤Ê¤É¤¬Î¯¤Þ¤Ã¤Æ¤·¤Þ¤¤³ÈÄ¥¤¹¤ë¡£³ÈÄ¥¤·¤¿°ß¤ÏÂÎÆâ¤Ç·ä´Ö¤òµá¤á¤ÆÆ°¤¤Ä¤Þ¤ê²óž¤ò¤·¤Æ¤·¤Þ¤¦¡£ | ¿°ø»Ò | ¿ |
247 |
Gastrointestinal stromal tumor ¾Ã²½´É´Ö¼Á¼ðáç |
¼ç¤Ë¾®Ä²¤Ë¼ðáç¡¢4ºÐ¤«¤é15ºÐ¤Þ¤Ç¤ËÎ㤬¤¢¤êÊ¿¶Ñȯ¾ÉǯÎð¤Ï10ºÐ |
Gene: KIT ÊÌ̾¾Ã²½´É´ÖÍÕÀ¼ðáç¡¢¾Ã²½´É´Ö¼ÁÀ¼ðáç¡¢°ß¾Ã²½´É´Ö¼Á¼ðáç¡¢°ßIJ´Ö¼ÁÀ¼ðáç¡£¾Ã²½´ÉÊÉ¤Î¶ÚÆùÁؤ«¤éȯÀ¸¤¹¤ë¤¬¤ó¤Ç¼õÍÆÂη¿¥Á¥í¥·¥ó¥¥Ê¡¼¥¼¤Î°ì¼ï¤Ç¤¢¤ëKITÃÁÇò(´´ºÙ˦°ø»Ò¼õÍÆÂÎ)¤ò¹çÀ®¤¹¤ë°äÅÁ»Ò c-kitÊѰۤˤè¤ëkit¤¿¤ó¤Ñ¤¯¼Á²á¾êȯ¸½¡£¥Ò¥È¤Îɵ¤¤È¸¶°ø¤ä·Ð²á¤¬¤Û¤ÜƱ¤¸¤Ê¤Î¤Ç¥â¥Ç¥ë¤Ë¤Ê¤êÆÀ¤ë¤¬¡¢(96ǯ¡Á06ǯ¤Î46¾ÉÎã¤Î·ë²Ì)2010ǯȯɽ¤Î¥ß¥·¥¬¥ó½£Î©Âç³Ø¤Î¸¦µæ¤Ç¤Ï´µ¸¤¤Î¼ðáç¤Î8³ä¶á¤¯¤¬¾®Ä²¤Ç2³ä¼å¤¬°ß¤Ë¤Ç¤¤Æ¤¤¤¿(¥Ò¥È¤Ç¤Ï°ß6¡Á7³ä¾®Ä²2¡Á3³äÂçIJ¤È¿©Æ»¤¬5¥Ñ¡¼¥»¥ó¥È¤Ç50¡Á60ºÐÂå¤Ë¿¤¤)¡£ |
¾ïÀ÷¿§ÂÎÀ | ¿¡¢»¨¼ï |
248 |
Gaucher disease, type I ¥´¡¼¥·¥§É¡¡µ·¿ |
¼Ð»ë¡¢À®Ä¹Ãٱ䡢¤±¤¤¤ì¤óȯºî¡¢°×¹üÀÞÀ¡¢´Î磼𡢷쾮ÈĤθº¾¯¡¢ÉÏ·ì | ¥°¥ë¥³¥»¥ì¥Ö¥í¥·¥¿¡¼¥¼Äã³èÀ¤Ë¤è¤ë¥é¥¤¥½¥¾¡¼¥à¼À´µ¡£¥Ò¥È¤Ç¤Ï3·¿¤Ëʬ¤±¤é¤ì¤ë¾ïÀ÷¿§ÂÎÀøÀ°äÅÁ | ñ°ì°äÅÁ»Ò | * |
249 |
Generalized PRA ¿Ê¹ÔÀÌÖËì°à½Ì¾É |
¿Ê¹ÔÀ¤ÎÌÖËì¤Î°à½Ì¡¢¼ºÌÀ |
Gene: CCDC66 * |
AR | ¥·¥ã¡¼¥Ú¥ó¥É¡¼¥¹ |
250 |
Genu valgum XµÓ |
À¸¸å4¥ö·îº¢¤«¤é¤ÎÇ˹ԡ¢¸å»è¤ÎÊÑ·Á¡¢ÄˤߤÎËýÀ²½¤äÊâ¹Ôº¤Æñ¡¢ÊÑ·ÁÀ´ØÀá±ê¡¢¸Ô´ØÀá·ÁÀ®ÉÔÁ´ |
³°È¿É¨(¤¬¤¤¤Ï¤ó¤·¤Ä)¡£É¨¤¬¤¯¤Ã¤Ä¤µ¤Ì£¤ÇµÓ¤Î»ØÀ褬³°Â¦¤ËÎ¥¤ì¤ëÊÑ·ÁŪ¤Ê¹ü³Ê¡£Ã±¤Ë¹ü³Ê¤À¤±¤¬°äÅÁ¤·¤¿¤â¤Î¡¢Â¾¤Î¼À´µ¤Î±Æ¶Á¤ò¼õ¤±¤¿¤â¤Î¡¢ÉÂŪ¤Ê¤Û¤É¤Ç¤Ï¤Ê¤¤¤â¤Î¤Ê¤É¤¬¤¢¤ë¡£
½é´ü¤Îº¢¤Ï¥ì¥ó¥È¥²¥ó¤Ç¤Î¿ÇÃÇ¤ÏÆñ¤·¤¯¡¢3DCT¤ÇÂçÂܹüðôÉô¤ÈÂçÂܹü¹ü´´Éô¤Î³ÑÅÙ(ðôÂγÑ)¡¢æú¹ü(¤±¤¤¤³¤Ä¡¦É¨¤«¤é¼ó¤Þ¤Ç¤ÎÂÀ¤¤Êý¡¦Ê۷Ĥε㤽꤬¤¢¤ëÊý¤ÎĹ¹ü)¾åÌ̤Èɨ¤ËÀܤ¹¤ëÌ̤γÑÅ٤ʤɤ«¤é³ÎÄê¿ÇÃÇ |
* | ¥»¥ó¥È¥Ð¡¼¥Ê¡¼¥É¡¢Âç·¿¸¤ |
251 |
Gingival hypertrophy »õÆùÈîÂç¾É |
»þ´Ö¤ò¤«¤±¤Æ½ù¡¹¤Ë»õ·Ô¤¬¸Ç¤¯¼ð¤ì¤Æ¤¤¤¡¢»õ·Ô¤¬»õ¤òʤ¤Ã¤Æ¤·¤Þ¤¤¼¡Âè¤Ë¤â¤Î¤¬³ú¤á¤Ê¤¯¤Ê¤ë¡£¤½¤ÎºÝÄˤߤϾ¯¤Ê¤¤¤È¹Í¤¨¤é¤ì¤Æ¤¤¤ë¤¬¼ð¤ì¤¿»õ·Ô¤Ë¿©Êª¤¬Åö¤¿¤ë¤³¤È¤Ç±ê¾É¤òµ¯¤³¤¹¾ì¹ç¤â¿¤¯¥È¥é¥Ö¥ë¤Ë¤Ê¤ê¤ä¤¹¤¤¡£¸ý¹ÐÆâ¤ÎÀ¶·é¤òÆü¾ïŪ¤ËÊݤĤ³¤È¤Ç¾Íè¤ÎÂ礤ʼð¤ì¤òËɤ²¤ë¥±¡¼¥¹¤¬Â¿¤¤¤è¤¦¤À¡£¹³¤±¤¤¤ì¤óÌô¤ÎÉûºîÍѤǤⵯ¤³¤ê¤ä¤¹¤¤¡£ | »õÆùÁý¿£¡¢»õÆùÈî¸ü¤È¤â¡£ | * | * |
252 |
Glaucoma, generic ÎÐÆâ¾ã |
»ëÌî·ç»¡¢»ëÎÏÄã²¼¡¢´ã°µ¤Î¾å¾º¤Ê¤É¤Ë¤è¤ëÄˤߡ¢ÆúºÌ¤äÌÓÍÍÂΤΰà½Ì¡¢¿å¾½ÂΤä¾Ë»ÒÂΤÎÊÑÀ¤Ê¤ÉÍÍ¡¹¤ÊÊѲ½ | ÎÐÆâ¾ã¤ÏÌÖËì¿À·ÐÀáºÙ˦¤¬»àÌǤ¹¤ë¿Ê¹ÔÀ¤Îɵ¤ | unknown | ¿ |
253 |
Glaucoma, primary closed-angle ¸¶È¯ÀÊĺɶù³ÑÎÐÆâ¾ã |
ÎÐÆâ¾ã»²¾È | * | unknown | ¥À¥ó¥Ç¥£ |
254 |
Glaucoma, primary open-angle ¸¶È¯À³«Êü¶ù³ÑÎÐÆâ¾ã |
ÎÐÆâ¾ã»²¾È |
Gene: ADAMTS10 ÀèÅ·ÀÎÐÆâ¾ã¤Ç¤ÏÁ°Ë¼¶ù³Ñ¤Î´ñ·Á¤¬ÆÃħŪ Vetgene¤Ç¥Ó¡¼¥°¥ë°äÅÁ»Ò¸¡ºº¥¢¥ê |
AR | ¥Ó¡¼¥°¥ë |
255 |
Glaucoma, primary open angle, ADAMTS10-related ADAMTS10´ØÏ¢·¿ ¸¶È¯À³«Êü¶ù³ÑÎÐÆâ¾ã |
* |
Gene: ADAMTS10 * |
AR | ¼Æ¡¢¥·¡¼¥º¡¼¡¢¥Ó¡¼¥°¥ë¡¢N¥¨¥ë¥¯ |
256 |
Glaucoma, primary open angle, ADAMTS17-related ADAMTS17´ØÏ¢·¿ ¸¶È¯À³«Êü¶ù³ÑÎÐÆâ¾ã |
* |
Gene: ADAMTS17 ¸µ¤ÎÉÂ̾Glaucoma, primary open angle, due to mutations in ADAMTS17(ADAMTS17¤Ë¤ª¤±¤ëÆÍÁ³ÊѰۤ˵¯°ø¤¹¤ë¸¶È¯À³«Êü¶ù³ÑÎÐÆâ¾ã) |
AR | ¥Ð¥»¥Ã¥È |
257 |
Glioma susceptibility ¥°¥ê¥ª¡¼¥Þ´¶¼õÀ |
¿À·Ðç±¼ð(¥°¥ê¥ª¡¼¥Þ)¤ÏǾ¤ËȯÀ¸¤¹¤ë°À¼ðáç | * | unknown | ¿ |
258 |
Glomerulonephritis »åµåÂοձê |
ÂνŸº¾¯¡¢¤è¤¯¿²¤ë¡¢¤¿¤ó¤Ñ¤¯Ç¢¤Ê¤É¤«¤é°²½¤¹¤ë | ¿Õ»åµåÂΤÎÁý¿£ÀÊѲ½¤Èµ¡Ç½¾ã³²¤òȼ¤¦¼À´µ·²¡£Â¾¤Î¿Õ±ê¤ÈƱ¤¸¤¯°²½¤¹¤ë¤Þ¤Ç¤Î¾É¾õ¤¬·Ú¤¯¸«Íî¤È¤·¤¬¤Á¡£´¶À÷¾É¤ä¥á¥¹¤Î»ÒµÜÃßÇ¿¾É¤ä¥ª¥¹¤ÎÁ°Î©Á£¼À´µ¤Ê¤É¤È´ØÏ¢¤¹¤ë¤³¤È¤â¿¤¤ | unknown | * |
259 |
Glomerulonephropathy »åµåÂÎ¿Õ¾É |
˳Ǣ¡¢·ìÇ¢¡¢¥¿¥ó¥Ñ¥¯Ç¢ | Ìȱֵ¡Ç½¤Ê¤É¤¬¸¶°ø¤Çµ¯¤³¤ë»åµåÂΤαê¾É¤Ë¤è¤ë¿Õ±ê¡£»åµåÂΤȤϿÕ¡Èé¼Á¤Ë¤¢¤ë¿Õ¾®ÂΤΰìÉô¤ÇÌÓºÙ·ì´É¤Îµå¾õ¤Î¥«¥¿¥Þ¥ê¡£Ç¢¤òºî¤ëºÇ½é¤Î¹½Â¤¤Ç¸¤¤Îº¸±¦¿Õ¤Î»åµåÂοô¤ÎÊ¿¶Ñ¤Ï415,0002¡Þ130,000¡£¤³¤ÎÁ´»åµåÂΤÎ7³ä¤Îµ¡Ç½¤¬¾Ã¼º¤¹¤ë¤È¿ÕÉÔÁ´¤È¤Ê¤ë | AR | B¥Þ¥¹¥Á¥Õ¡¢F¥Þ¥¹¥Á¥Õ¡¢¥Ð¥Ë |
260 |
Glossopharyngeal defect Àå°ö·ç» |
¾å¸þ¤¤ÇÆâ¦¤Ë¥«¡¼¥ë¤·¤Æ¤¤¤ëÀè¤Î¤È¤¬¤Ã¤¿Àå | À¸Â¸ÉÔǽ | ARÃ×»à | * |
261 |
Gluten-sensitive enteropathy ¥°¥ë¥Æ¥ó²áÉÒÀIJ¾É |
Î¥Æý¸å¤ÎËýÀ²¼Î¡¡¢¿©ÍßÉÔ¿¶¡¢¾®¤Ö¤ê |
¾®Çþ¥°¥ë¥Æ¥óÃÁÇò¤Ë¤è¤ë¾®Ä²µÛ¼ýÉÔÁ´¾É¤Ê¤Î¤ÇÂнèË¡¤Ï¥°¥ë¥Æ¥ó¥Õ¥ê¡¼¤Î¿©»ö·Ñ³ ¥»¥ê¥¢¥Ã¥¯É¡¢¥»¥ê¥¢¥Ã¥¯¥¹¥×¥ë¡¼ |
AR | I¥»¥Ã¥¿¡¼ |
262 |
Glycogen storage disease I Åü¸¶Éµ·¿ |
¾®¿©¡¢Äã·ìÅüȯºî(·îÎ𤬿ʤà¤È´ËϤµ¤ì¤ë)¡¢À®Ä¹Ãٱ䡢(É¡¤Ê¤É)½Ð·ì¡¢´Î¼ðÂç(Ê¢ÉôËÄËþ)¡¢¹â»é·ì¾É¡¢¹âÇ¢»À·ì¾É |
Gene: G6PC ¥Õ¥©¥ó¥®¡¼¥ë¥±¡£glucose-6-phosphatase°Û¾ï¤Ë¤è¤ë´Î¿Õ·¿¥°¥ê¥³¡¼¥²¥óÃßÀѾɡ£Â¿Î̤Υ°¥ê¥³¡¼¥²¥ó¤¬´Î¡¡¦¿Õ¡¤ËÃßÀÑ¡£ |
AR | * |
263 |
Glycogen storage disease ¶ Åü¸¶É¶·¿ |
½é´ü¤ÏÉÔ̲¤È±¿Æ°»þ¤Î¸ÆµÛº¤Æñ¤ò´Þ¤à¶ÚÎÏÄã²¼¡¢´Î¡¦¿´¼ðÂç¡¢¿´ÉÔÁ´¤ÇÁá´ü»àË´ |
Gene: GAA ¥Ý¥ó¥ÚÉÂ(¥Ý¥ó¥Ú¤Ïȯ¸«¤·¤¿¥ª¥é¥ó¥À¤Î°å»Õ¤Î̾)¡£»ÀÀ¥Þ¥ë¥¿¡¼¥¼(a-¥°¥ë¥³¥·¥¿¡¼¥¼¤È¤â¸À¤¦)·ç»¤Ë¤è¤ë¥°¥ê¥³¡¼¥²¥óÃßÀÑ¾É |
ñ°ì°äÅÁ»Ò | F¥é¥Ã¥×¥Ï¥¦¥ó¥É¡¢S¥é¥Ã¥×¥Ï¥¦¥ó¥É |
264 |
Glycogen storage disease IIIa Åü¸¶ÉÂIIIa·¿ |
´Î¼ðÂç¡¢¶ÚÎÏÄã²¼ |
Gene: AGL ¥³¥êÉ |
AR | * |
265 |
Glycogen storage disease » Åü¸¶É»·¿ |
±¿Æ°Ãæ¤Î¶ÚÄË(¤¿¤À¤·°ìµÙ¤ß¸å¤Ë¤Ï±¿Æ°Á°¤ËÌá¤ë¤Î¤ÇµÙ·Æ¤òÆþ¤ì¤ì¤Ð³¹Ô¤Ç¤¤ë)¡¢°×ÈèÏ«¡¢¶Ú¶¯Ä¾¡£±¿Æ°¸å¤Î¥ß¥ª¥°¥í¥Ó¥óÇ¢(Èó¾ï¤ËÇ»¤¤¿§)¡£ÍÏ·ì·¹¸þ¡¢¹â¥Ó¥ê¥ë¥Ó¥ó·ì¾É¡£·ìÀ¥¯¥ì¥¢¥Á¥ó¥¥Ê¡¼¥¼(CPK)¤Î¾å¾º¡£ |
Genes:PFKM ¿â°æÉÂ(ºÇ½é¤Ëɵ¤¤ÎÊó¹ð¤ò¤·¤¿¿â°æÂçºåÂç³ØÌ¾ÍÀ¶µ¼ø¤Ë°ø¤à)¡£¶Ú¥Û¥¹¥Û¥Õ¥ë¥¯¥È¥¥Ê¡¼¥¼·ç»¤Ë¤è¤ë¥ß¥ª¥Ñ¥Á¡¼ |
AR | * |
266 |
Goitre, familial ²È²À¹Ã¾õÁ£¼ð |
¹Ã¾õÁ£¤Î³ÈÂç¡¢¼ó¤ÎÁ°¤Î¼ð¤ì |
¹Ã¾õÁ£¼ð¤È¤Ï¹Ã¾õÁ£µ¡Ç½¤Î°Û¾ï¤¬´ØÏ¢¤·¤Æ¤¤¤ë¤¤¤Ê¤¤¤Ë´Ø¤ï¤é¤º¹Ã¾õÁ£¤¬³ÈÂ礵¤ì¤¿¾õÂÖ¤ÎÁí¾Î¡£ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395427/ ¹Ã¾õÁ£Âå¼Õ¤Î¸¶È¯ÀÀèÅ·°Û¾ï¤È·ì´Éȯã²áÄø¤Î·ç´Ù¤Î´ØÏ¢À2012ǯ¤Î»¨»ïJournal of the American Animal Hospital Association¡ÊVol. 48¡Ë¤Ë¸ø³«¤µ¤ì¤¿¸¦µæ ¡ÊÀ¸¸å4¡Á5¥õ·îÎð¤Î¥ê¥Ã¥¿¡¼8Ƭ¤Î¤¦¤Á3Ƭ¤Î»Ò¸¤¤ÎÊ¢Éô»ÒµÜðôÉôÎΰè¤Ëǧ¤á¤é¤ì¤¿Î¾Â¦Èé²¼¼ðáî¤Î³Æ¼ï¸¡ºº·ë²Ì¡Ë ¹Ã¾õÁ£¥Û¥ë¥â¥ó¤Î·ìÀ¶Ç»ÅÙ¤¬´ð½àÈϰÏ̤Ëþ¤Ç¤¢¤Ã¤¿¡¢ÂçÉôʬ¤¬Á£¤ÎÎΰè¤Ë½ÅÅ٤˳ÈÄ¥¤·¤¿°Û¾ï¤ÊÌ®´É¹½Â¤¤òͤ¹¤ë³ÈÂç¹Ã¾õÁ£¤ÈƱÄꤵ¤ì¤¿¡¢¹Ã¾õÁ£¼ð¤Î¸ºß¤ò½ü¤¤¤Æ¡¢¹Ã¾õÁ£µ¡Ç½Äã²¼¾É¤ÎÎ×¾²Ä§¸õ¤ò¼¨¤µ¤Ê¤«¤Ã¤¿¡¢1Ƭ¤Ïư̮´É³«Â¸¾É¤òʻȯ¡¢¤Û¤« |
unknown | PL¥·¡¼¥×¥É¥Ã¥° |
267 |
Golden Retriever PRA 1 ¥´¡¼¥ë¥Ç¥ó¥ì¥È¥ê¡¼¥Ð¡¼¤Î¿Ê¹ÔÀÌÖËì°à½Ì¾É¡¡1·¿ |
¿Ê¹ÔÀ¤ÎÌÖËì°à½Ì¤Ë¤è¤ë»ëÎϾ㳲¡¢¼ºÌÀ |
Gene: SLC4A3 SLC4A3·¿¡¡¥¹¥¨¡¼¥Ç¥ó¤Î¸¦µæ |
AR | ¥´¡¼¥ë¥Ç¥ó |
268 |
Golden Retriever PRA 2 ¥´¡¼¥ë¥Ç¥ó¥ì¥È¥ê¡¼¥Ð¡¼¤Î¿Ê¹ÔÀÌÖËì°à½Ì¾É¡¡2·¿ |
¿Ê¹ÔÀ¤ÎÌÖËì°à½Ì¤Ë¤è¤ë»ëÎϾ㳲¡¢¼ºÌÀ |
Gene: TTC8 TTC8·¿¡¡¿·µ¬ÊѰۡ¡ |
AR | ¥´¡¼¥ë¥Ç¥ó |
269 |
Goniodysplasia, mesodermal ÃææõÍÕÀ¶ö³Ñ(¤°¤¦¤«¤¯)·ÁÀ®ÉÔÁ´ |
* | Á°Ë¼·ÁÀ®°Û¾ï¤Ë¤è¤ëȯãÎÐÆâ¾ã | AR | ¥Ï¥¹¥¡¼ |
270 |
Granule cell type cerebellar hypoplasia ðùγºÙ˦·¿¾®Ç¾Äã·ÁÀ® |
Î×¾²Ãû¸õ¤¬·ÚÈù¤Ç¥Ð¥é¥ó¥¹¤¬°¤«¤Ã¤¿¤ê¤ï¤º¤«¤Ë¤è¤í¤á¤¯ÄøÅÙ | ¾®Ç¾¤Î±¿Æ°¤òÄ´À°¤¹¤ë¾ì½ê¤ÎºÙ˦¤ÎÉÔ´°Á´¤Êȯã¡¢¸Ï³é¤Ë¤è¤ë¤¬¿ÇÃǤ¬º¤Æñ¡£ ÁÈ¿¥³ØÅª¤Ë¤Ï¥×¥ë¥¥ó¥¨ºÙ˦¤È¿ñ¼Á¤Î¹Ô¤Î´Ö¤ËðùγºÙ˦¤¬·çÇ¡¤·¤Æ¤¤¤ë¶¹¤¤¥¹¥Ú¡¼¥¹ | unknown | ¥Ó¡¼¥°¥ë |
271 |
Guillain-Barr-like polyradiculoneuropathy *¥®¥é¥ó¡¦¥Ð¥ì¡¼ÍÍ Â¿È¯¿À·Ðº¬¶Ú¾ã³² |
* | * | unknown | * |
272 |
Haemangiosarcoma ·ì´ÉÆù¼ð |
½é´ü¤«¤éÃæ´ü¤Þ¤Ç¤Ï¿©ÍßÉÔ¿¶¡¢ÓÒÅÇ¡¢²¼Î¡¤Ê¤É¤Î·Ú¤¤¾Ã²½´ï¾É¾õ¡¢Ëö´ü¤ËȽÊ̤Ǥ¤ë¼ð¤ì¡¢ÉÏ·ì¤Ê¤É | ·ì´É¤ÎÆâ¦¤Ë¤Ç¤¤ë°À¼ðáç¤ÇÊ¿¶ÑŪ¤Êȯ¾ÉǯÎð¤Ï10ºÐÁ°¸å¡£¼ðáç¤ÎȯÀ¸¤Ïç£Â¡Éն᤬¿¤¯¿´Â¡¤Ëž°Ü¤¹¤ë¥±¡¼¥¹¤â¿¡£Í½¸åÉÔÎÉ | unknown | ¿ |
273 |
Haemolytic anaemia ÍÏ·ìÀÉÏ·ì |
¿©ÍßÉÔ¿¶¡¢ÓÒÅÇ¡¢²¼Î¡¡¢Ã¦ÎÏ´¶¤Ê¤É¤«¤é¿´Çï¿ô¤¬Áý¤¨±¿Æ°µ¡Ç½¤ÎÄã²¼ |
ÍÏ·ì¤Ë¤è¤ëÉÏ·ì¡£¤¤¤¯¤Ä¤«¤ÎÍýͳ¤ÇÀÖ·ìµå¤¬Ç˲õ¤µ¤ì¤ë¤³¤È¤òÍÏ·ì¤È¸À¤¦¡£Ç˲õ¤µ¤ì»½ý¤ò¼õ¤±¤¿ÀÖ·ìµå¤Ïç£Â¡¡¦´Î¡¤ª¤è¤Ó¹ü¿ñ¤Ë¤ª¤±¤ëÌȱַϤˤè¤Ã¤Æ·ì±Õ¤«¤é½üµî¤µ¤ì¤ë¡£ÀÖ·ìµå¤Ï»ÀÁǤò±¿¤ÖƯ¤¤ò»ý¤Ä¤Î¤ÇÁ´¿È¤Î³Æµ¡Ç½¤ÎÄã²¼¤Ø¤È¿Ê¤à¡£Í½¸åÉÔÎÉ¡£ 4ºÐ¤«¤é5ºÐ¤Îȯ¾É¤¬Â¿¤¯¥á¥¹¸¤¤Ï¥ª¥¹¸¤¤Î4Çܤۤɥꥹ¥¯¤¬¹â¤¤¡£ °Ê²¼ÍÏ·ìÉÏ·ì¤Ç¤ÏÁóÇò¤ä²«áÕ¤âÂåɽŪ¤Ê¾É¾õ¤À¤¬¸¤¤Ç¤Ï¤ï¤«¤ê¤Ë¤¯¤¤(»õ·Ô¤äÇòÌܤÇȽÃǤǤ¤ë¤Î¤À¤¬)¡£¥Ü¥¹¥È¥ó¥Æ¥ê¥¢¤Ç¤ÏAR |
ñ°ì°äÅÁ»Ò | ¥×¡¼¥É¥ë¡¢¥Ó¡¼¥°¥ë¡¢¥Ü¥¹¥Æ¥ê¡¢¥é¥Ö¾¿ |
274 |
Haemolytic anaemia, autoimmune ¼«¸ÊÌȱÖÀÍÏ·ìÀÉÏ·ì |
ÍÏ·ì¤Ë¤è¤ëÉÏ·ì | ¼«¸Ê¹³ÂΤˤè¤Ã¤Æ¼«Ê¬¤ÎÀÖ·ìµå¤òÄ̾ï¤è¤êÁ᤯Ç˲õ¤·ÍÏ·ì¤òµ¯¤³¤¹¡£Í½¸åÉÔÎÉ | unknown | ¿ |
275 |
Haemolytic anaemia, nonspherocytic Èóµå¾õÀ¼«¸ÊÌȱÖÀÍÏ·ìÀÉÏ·ì |
磼ð |
PCV¤Ï30¡Á39¡ó¡ÊÀµ¾ï¡¢46¡Á56¡ó¡Ë¡¢ÀÖ·ìµå¤Ï·ÁÂÖ³ØÅª¤ËÀµ¾ï¤Ç¹ü¿ñµÛ°ú¸¡ºº¤Ë¤è¤êÀÖ·ìµå²á·ÁÀ®¤¬ÌÀ¤é¤«¤Ë¡Ê88ǯ¥ï¥·¥ó¥È¥óÂç³Ø¡Ë
°äÅÁÀÍÏ·ìÀÉÏ·ì¾ÉÎã¤ÎËö¾¿·ìÀÖ·ìµå¤ò´Ñ»¡¤¹¤ë¤È,ŵ·¿Åª¤Ê¾®·¿µå¾õÀÖ·ìµå¾É¤òÄ褹¤ë·²¤È,¤³¤ì¤òǧ¤á¤Ê¤¤·²¤È¤¬¤¢¤ë.Á°¼Ô¤ò°äÅÁÀµå¾õÀÖ·ìµå¾É,¸å¼Ô¤òÈóµå¾õÀÖ·ìµåÀÍÏ·ìÀÉÏ·ì¤È¤¤¤¦.¤³¤Î¸å¼Ô¤Îɰø¤Ï¼ï¡¹¤Ç¤Ï¤¢¤ë¤¬,ÂçÊ̤·¤Æ, 1)Ëì°Û¾ï¾É, 2)¥Ø¥â¥°¥í¥Ó¥ó°Û¾ï¾É, 3)²òÅü·Ï¹ÚÁǰ۾ï¾É¤¬ÃΤé¤ì¤Æ¤¤¤ë. 1)¤È¤·¤Æ¤Ï,͸ýÀÖ·ìµå¾É,ÍÛùÀÖ·ìµå¾É,ÂʱßÀÖ·ìµå¾É, 2)¤È¤·¤Æ¤Ï¥µ¥é¥»¥ß¥¢,¼ï¡¹¤Î°Û¾ï¥Ø¥â¥°¥í¥Ó¥ó¾É, 3)¤Ç¤Ï¥Ô¥ë¥Ó¥ó»À¥¥Ê¡¼¥¼·ç˳¾É¤Ê¤É¤¬³ºÅö¤¹¤ë.¢ª°äÅÁÀÂʱßÀÖ·ìµå¾É |
unknown | ¥Ð¥»¥ó¥¸¡¼¡¢¥Ó¡¼¥°¥ë |
276 |
Haemolytic anaemia, primary autoimmune ¸¶È¯À¼«¸ÊÌȱÖÀÍÏ·ìÀÉÏ·ì |
Çö¤¤Ç´Ëì¤ÎÊø²õ(Ç´Ëì¤ÎÇö¤¤²Õ½ê¤«¤é¤Î½Ð·ì)¡¢¸µµ¤¾ÃÄÀ¡¢¿²¤Æ¤Ð¤«¤ê |
¸¶È¯À¤È¤Ï¾¤Îɵ¤¤Î·ë²Ì¤È¤·¤Æµ¯¤³¤ëɵ¤¤Ç¤Ï¤Ê¤¯¡¢¤½¤Îɵ¤¼«ÂΤ¬¸¶°ø¤È¤Ê¤ë¤â¤Î¤ò»Ø¤¹¤Î¤Ç¡¢¼«¸ÊÌȱ֤ÎÉÔ¶ñ¹ç¤¬¸¶°ø¤È¤Ê¤Ã¤ÆÍÏ·ìÀÉÏ·ì¤òµ¯¤³¤¹Éµ¤ ¥¹¥Æ¥í¥¤¥É·Ï¹³±ê¾ÉÌô¤Î1¤Ä¤Ç¤¢¤ë¥×¥ì¥É¥Ë¥¾¥í¥ó¤Ç·Ú²÷¤¹¤ë¤è¤¦¤À |
unknown | * |
277 |
Haemolytic uremic syndrome ÍÏ·ìÀÇ¢ÆÇ¾É¾É¸õ·² |
Ê¢ÄË¡¢·ìÀ²¼Î¡ÊØ¡¢ÍÏ·ì¤Ë¤è¤ëÉϷ졣ǢÆÇ¾É(BUN¹âÃÍ)¤Ë¤è¤ë°Õ¼±¾ã³² | Èù¾®·ì´ÉÀÍÏ·ìÀÉÏ·ì¡¢µÞÀ¿ÕÉÔÁ´¤ª¤è¤Ó·ì¾®Èĸº¾¯¾É¤òÆÃħ¤È¤¹¤ëÉÂÂÖ¡£Ê¬ÊÚ¸å¿ÕÉÔÁ´¤ä°À¹â·ì°µ¤Ë¹çÊ»¤¹¤ë¤³¤È¤â¤¢¤ë¡£ | unknown | * |
278 |
Haemophagocytic syndrome ·ìµåìÅ¿©¾É¸õ·² |
* |
hemophagocytic syndrome ³èÀ²½¥Þ¥¯¥í¥Õ¥¡¡¼¥¸¤Ë¤è¤ë·ìµåìÅ¿©À¼À´µ ¿ÇÃǤϹü¿ñÀü»É¤ÎºÙ˦¿Ç¤Î¤è¤¦¤À¡£96ǯ·ìµåìÅ¿©¾É¸õ·²¤¬·ìµå¸º¾¯¾É¤Îȯ¾É¤Ë¤ª¤¤¤Æ½ÅÍפʰø»Ò¤Ç¤¢¤êÆÀ¤ë¤³¤È¤ò¼¨º¶¤·¤¿¸¦µæ¡Ê´¶À÷¾Éȯ¾É¸¤¥¢¥ê¡Ë |
unknown | * |
279 |
Haemophilia A ·ìͧÉÂA |
¥ï¥¯¥Á¥óÀܼï¤Ê¤ÉÃí¼Í¸å¤Î¼ð¤ì¡¦¤·¤³¤ê¡¢½Ð·ì»þ´Ö¤Î±äĹ¡¢Ç˹ԡ¢´ØÀá±ê |
Genes:F8 ÂèVIII°ø»Ò·ç˳¤Ë¤è¤ë½Ð·ìÀ¼À´µ¡£¿·À¸»ù¤ÎçÁÂӽзì²á¿¡¢ÃÇÈø¡¦¼ª¡¢ÏµÄÞÀÚ½ü»þ¡¢»õ¤ÎÀ¸¤¨ÊѤï¤ê»þ¤Î½Ð·ìÎÌÁýÂç¡¢ÄÞÀÚ¤ê»þ¤Î½Ð·ì¤Ê¤É½Å¾ÉÅ٤ˤϸÄÂκ¹¤¬·ã¤·¤¤¤¬¤Á¤ç¤Ã¤È¤·¤¿¤³¤È¤Ç¤è¤¯·ì¤¬½Ð¤ë¡£Æü¾ï¤ÎÀµ¾ï¤Êư¤¤Ç´ØÀá¤Ë·Ñ³Ū¤Ê½Ð·ì¤¬µ¯¤³¤ê(ɪ¤äɨ¤Ê¤É)´ØÀá±ê¤Ø¤È°Ü¹Ô¤¹¤ë¡£XÀ÷¿§ÂÎÏ¢º¿ÎôÀ°äÅÁ¤Ê¤Î¤ÇÄ̾ï¤Ï¥ª¥¹¤ËȯÀ¸¤·¥á¥¹¤Ï¥¥ã¥ê¥¢¡¼¤À¤¬¤Þ¤ì¤Ëȯ¾É¥á¥¹¤¬¤¤¤ë |
XR | ¿ |
280 |
Haemophilia B ·ìͧÉÂB |
·ìͧÉÂA¤È¤Û¤ÜƱ¤¸¤â¤Î¤Î¤Û¤«¡¢½Ð·ìÀ¤Î²¼Î¡¡¢¿©ÍßÉÔ¿¶¡¢Ìµµ¤ÎÏ |
Genes:F9 ÂèIX°ø»Ò·ç˳¤Ë¤è¤ë½Ð·ìÀ¼À´µ¡¢¥¯¥ê¥¹¥Þ¥¹É¡¢¥È¥í¥ó¥Ü¥×¥é¥¹¥Á¥ó¥³¥ó¥Ý¡¼¥Í¥ó¥È¡ÊPTC¡Ë·ç˳¾É¡£ÂΤΥµ¥¤¥º¤¬¾®·¿¡¦Á餻·¿¤Ë¤Ê¤ë¤Û¤ÉÇ˹Ԥ¬ÆÍÁ³¸½¤ì¤ë·¹¸þ¤¬¸«¤é¤ì¤ë |
XR | ¿ |
281 |
Hair, long ĹÌÓ |
Hair length¤«¤é̾¾ÎÊѹ¹¡£Á´¿È¤ÎÈïÌÓ¤ò»Ø¤¹¥³¡¼¥È¤ËÂФ·¤Æ¥Ø¥¢¡¼¤Ï°ìÉôʬ¤ÎÈïÌÓ |
Genes: FGF5 * |
¾ïÀ÷¿§ÂÎÀ | ¥»¥ó¥È¡¢¥ï¥¤¥Þ¡¢Â¾ |
282 |
Heart defect, congenital ÀèÅ·À¿´¼À´µ |
Ì®Çï¤Î°Û¾ï¡¢À®Ä¹ÃÙ±ä¤Ê¤É¿´Â¡É¤ξɾõÁ´ÈÌ | ÀèŷŪ(À¸¤Þ¤ì¤Ä¤)¤Ë¿´Â¡¤Ë°Û¾ï¤¬¤¢¤ë¾ì¹ç¤ÎÁí¾Î | unknown | ¿ |
283 |
Heart defect, hypertrophic ÈîÂçÀ¿´¼À´µ |
³±¡¢Â©Àڤ졢±¿Æ°ÉÔÂÑÀ¡¢ÆÍÁ³»à¤Ê¤É¤Î¿´Â¡É¤ξɾõ |
ÈîÂç·¿¿´¶Ú¾É¡£Ä̾ﺸ¿´¼¼¡ÊÇÙ¤«¤éº¸¿´Ë¼¤òÄ̤ä¿¿·Á¯¤Ê·ì±Õ¤òÁ´¿È¤ØÎ϶¯¤¯Á÷¤ê½Ð¤¹Éô²°¡Ë¤Î¿´¶ÚºÙ˦¤¬ÈîÂ礷¤Æ¿´¼¼Êɤ¬¡Ê¿´Â¡¤ÎÆâ¤Ë¤â³°¤Ë¤â¡Ë¸ü¤¯¤Ê¤ê³ÈÄ¥¾ã³²¤¬µ¯¤³¤ë¡£
³ÈÄ¥´ü¤Îû½Ì¤ÇÁ´¿È¤Ëή¤ì¤ë·ì±ÕÎ̤¬ÉÔ¤·¤¿¤ê¿´¼¼¤«¤é¿´Ë¼¤ØµÕή¤·¤¿¤ê¤·¤ÆÇÙ¿å¼ð¤«¤é¤Î¸ÆµÛº¤Æñ¡¢¤¬À¸¤¸¤ë¤Þ¤Ç̵¾É¾õ¡Ê¤È´¶¤¸¤é¤ì¤ë¡Ë¤Ê¤³¤È¤¬Â¿¡¹¤¢¤ë¡£ ÂçÆ°Ì®ÊÛÉÕ¶á¤ÎÊÉÈî¸ü¤Ë¤è¤ëÊĺÉÀÈîÂç·¿¿´¶Ú¾É¢ª¡¡¿´Î®½ÐÏ©¶¹ºõ¤Ë¤è¤ë¿´Çï½ÐÎÌÄã²¼ ¿´ÀíÉô¤ÎÊÉÈî¸ü¤Ë¤è¤ëÈóÊĺÉÀÈîÂç·¿¿´¶Ú¾É¢ª¡¡¿´¼¼¶ÚÈîÂç¤Ë¤è¤ëº¸¼¼³Èĥǽ¤ÎÄã²¼¤ª¤è¤ÓÉÔÀ°Ì® |
unknown | ¿ |
284 |
Heat tolerance ½ë¤µÂÑÀ |
* | * | ÉÔÌÀ | ¤½¤ê¸¤ |
285 |
Height, HMGA2 associated body size variation HMGA2´ØÏ¢¡¡Âη¿ |
ɵ¤¤Ç¤Ï¤Ê¤¤ | 10ÈÖÀ÷¿§ÂΤÎÎΰè¤ÏºÇ¤â¹â¤¤¥ì¥Ù¥ë¤Î°äÅÁŪʬ²½¤òͤ¹¤ë¡£ÂνŤȼª¤Î·Á¾õ¤ËÂ礤¯´ØÏ¢¤¹¤ëSNP¤òƱÄê | ¿°ø»Ò | ¿ |
286 |
Hemangiosarcoma ·ì´ÉÆù¼ð |
* | Haemangiosarcoma¤¬¤¢¤ë¤Î¤Ë¡©¡©¡©¡¡Frank Í׳Îǧ¡¡ | unknown | ¥´¥ë |
287 |
Hemeralopia ÃëÌÕ |
ÌÀ¤ë¤¤¾ì½ê¤Ç¤Î»ëÎϤ¬¼å¤¤ | ¿íÂÎ(¥³¡¼¥ó)ÊÑÀ¡¢Ãæ±û¿Ê¹ÔÀÌÖËì°à½Ì¾É(CPRA)¡£ÌÀ¤ë¤¤½ê¤Ë¤ª¤±¤ë»ëÎϤ¬°Å¤¤½ê¤Ë¤ª¤±¤ë»ëÎϤè¤êÎô¤ë¾É¾õ¤Ç | unknown | ¥×¡¼¥É¥ë¡¢¥°¥ì¥Ç¥ó |
288 |
Hemimelia Ⱦ»è¾É |
Àµ¾ï¹½Â¤¤Î°ìÉô·ç»¤òÆÃħ¤È¤¹¤ëÀèÅ·À´ñ·Á |
»Í»è¤ÎÉôʬŪ¤Þ¤¿¤Ï¤¹¤Ù¤Æ¤Î·ç»¡£Á°»è¸å»è¤È¤âµ¯¤¤ë¡£º¸±¦¤Î»è¤Î¹ü¼«ÂΤÎŤµ¤ä¸þ¤¤ä¹ü¤Î¿ô¤Ê¤É·Á¾õ¤ÏÂоΡ¦ÈóÂоΤɤÁ¤é¤â¸«¤é¤ì¤ë ¼ê¤ÎÀèÅ·ÀʬÎöectrodactyly¡¢È¾·Â¤Þ¤¿¤Ï¼Ü¹ü¤ÎÀèÅ·ÀʬÀá·ç»hemimelia¡¢¤È¤¤¤¦»È¤¤¤«¤¿ |
unknown | »³ÍÓ¡¢ÍÓ¡¢µí |
289 |
Hemivertebrae ȾÄǹü¾É¡¢È¾Â¦Äǹü(¤Ï¤ó¤½¤¯¤Ä¤¤¤³¤Ä) |
ÄÇ´ÖÈĥإë¥Ë¥¢¤Ë»÷¤¿¾É¾õ | Äǹü¤È¤ÏÇØ¹ü¤òºî¤Ã¤Æ¤¤¤ë¹ü¤Î¤³¤È¤Ç7¸Ä¤Î·ÛÄÇ¡¢13¸Ä¤Î¶»ÄÇ(Ͼ¹ü¤ÎÉôʬ)¡¢7¸Ä¤Î¹øÄÇ(ÀÔ¿ñ¤ÏÂè6¹øÄǤ«¤éÂè7¹øÄÇÉÕ¶á¤Þ¤Ç±ä¤Ó¤Æ¤¤¤ë)¡¢3¸Ä¤¬Ìþ¹ç¤·¤Æ1¤Ä¤ÎÀç¹ü¤È¤Ê¤Ã¤Æ¤¤¤ëÀçÄÇ(¤ª¿¬¤Î¥«¡¼¥Ö¤Î¤¢¤¿¤ê)¡¢20¤«¤é24¸Ä¤ÎÈøÄǤ«¤é¤Ê¤ë¡£ | unknown | * |
290 |
Hepatic encephalopathy ´ÎÀǾ¾É |
¿ç̲¥ê¥º¥à¤ÎµÕž¡¢¿Ì¤¨¡¢°Õ¼±¤Îº®Âù¡¦¾Ã¼º¡¢»ëÎϾ㳲¡¢Óë²¼¾ã³²¡¢¶¯Ç÷ÀÊâ¹Ô | ´ÎÉÔÁ´¤Ë¤è¤ëÂå¼ÕÉÔÁ´¤¬µ¯¤³¤¹Àº¿À¿À·Ð¾É¾õ | unknown | * |
291 |
Hepatic encephalopathy, portosystemic ÌçÌ®Âν۴ÄÀǾ¾É |
´ÎÀǾ¾É»²¾È | ¿¤¯¤ÏÌçÌ®¥·¥ã¥ó¥È¤«¤é¤Îȯ¾É¡£·ì´É¤¬´Î¡¤ò±ª²ó¤·¤Æ¤¤¤ë¤¿¤á´Î¡¤Ç²òÆÇ¤µ¤ì¤ë¤Ù¤ÆÇÁǤ¬Á´¿È¤ò¤á¤°¤êǾ¤ËÆÇÀ¤òµÚ¤Ü¤¹ | unknown | ¿ |
292 |
Hepatic fibrosis, idiopathic ÆÃȯÀ´ÎÀþ°Ý¾É |
¿©Í߸ºÂࡢʢ¿å¡¢´ÎÀǾ¾É¡¢Áá´ü»àË´ |
*liver fibrosis Ä̾ï¤Î´ÎÁÈ¿¥¤¬Èóµ¡Ç½Åª¤ÊÀþ°ÝÁÈ¿¥¤ÈÃÖ¤´¹¤¨¤é¤ì¤Æ¤·¤Þ¤¦¡£È¯¾É¤Ï2ºÐ̤Ëþ |
unknown | G¥·¥§¥Ñ¡¢µí |
293 |
Hepatitis, chronic active ËýÀ³èưÀ´Î±ê |
¿©ÍßÉÔ¿¶¤äÓÒÅÇ¡¢ºª¿ç¡¢¾É¾õ¤¬½Ð¤Ê¤¤¾ì¹ç¤â¿¤¤ | ´ÎºÙ˦¤ÎÊÑÀ¡¢²õ»à¡£´ÎÀǾ¾É¤Î¼çÍ׸¶°ø¤Î1¤Ä¡£¼«¸ÊÌȱ֤ˤè¤ë¤³¤È¤â¤¢¤ë¡£¿ÇÃǤϥȥé¥ó¥¹¥¢¥ß¥Ê¡¼¥¼¹âÃÍÊÑÆ°¡¢¹â¦Ã-¥°¥í¥Ö¥ê¥ó·ì¾É¤òǧ¤á¤ë¤Ê¤É¡£¥Ò¥È¤ÎC·¿´Î±ê»²¾È | ÀÀ÷¿§ÂÎÀ¤« | * |
294 |
Hepatitis, copper-associated chronic *Ƽ´ØÏ¢·¿ËýÀ´Î±ê |
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