¸¤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¤¿¸¤¼ï |
---|---|---|---|---|---|
601 |
Pyoderma, German Shepherd ¥¸¥ã¡¼¥Þ¥ó¥·¥§¥Ñ¡¼¥É¤ÎÇ¿Èé¾É |
* |
* 2013/9NEW |
unknown¡¡(AR¤«) | G¥·¥§¥Ñ |
602 |
Pyruvate dehydrogenase deficiency ¥Ô¥ë¥Ó¥ó»À¥¥Ê¡¼¥¼·ç˳¾É |
±¿Æ°ÉÔÂÑÀ¡¢Æý»À¥¢¥·¥É¡¼¥·¥¹¡¢±¿Æ°¸åµõæ¡¢Æý»À¤ÎÃßÀѤˤè¤ë¶ÚÎÏÄã²¼¡¢´Î¾ã³²¡¢¤±¤¤¤ì¤óȯºî¡¢ATP(¥¢¥Ç¥Î¥·¥ó»°¥ê¥ó»À)»ºÀ¸Äã²¼¡¢ÀÖ·ìµåÆâæ¿å¡¢ç£¼ð |
Gene: PDP1 PK·ç»¾É¡£»à»º¡¦¿·À¸»Ò»àË´¤â¤¢¤ë¡£±¿Æ°¤ä´¶À÷¾É¤Ç°²½¡¢¥Ò¥È¤Î¾ì¹ç¤Ï´Î¡¤Þ¤¿¤ÏÈéÉæ¤ÎºÙ˦¤Î¹ÚÁdzèÀ¤ò¬Äꤹ¤ë¤³¤È¤Ç¿ÇÃÇ(Ëö¾¿·ìɸËܤÇÍÛùÀÖ·ìµå¤¬¸«¤é¤ì¤ë)¡¢¼£ÎŤÏç£Â¡Å¦½Ð |
AR | ¥¯¥é¥ó¥Ð¡¼¡¢¥µ¥»¥Ã¥¯¥¹¥¹¥Ñ¥Ë¥¨¥ë |
603 |
Pyruvate kinase deficiency of erythrocyte ÀÖ·ìµå¥Ô¥ë¥Ó¥ó»À¥¥Ê¡¼¥¼·ç˳¾É |
ÃæÅùÅ٤δÎ磼𡢿ʹÔÀ¹ü¹Å²½¾É¡¢¹ü¿ñÀþ°Ý¾É²«áÕ¡¢°äÅÁÀÍÏ·ìÀÉÏ·ì¤Î¹çÊ» |
Genes:PKLR »à»º¡¦¿·À¸»Ò»àË´¤â¤¢¤ë¤¬5ºÐ°Ê¾å¤Çȯ¾É¤¹¤ë¥±¡¼¥¹¤â¿¤¤¡£ATP»ºÀ¸Äã²¼¤ÇÀÖ·ìµå¤Îæ¿å¤¬µ¯¤ç£¼ð |
AR | ¥Ð¥»¥ó¥¸¡¼¡¢¥Ó¡¼¥°¥ë¡¢¥±¥¢¥ó¡¢¥¦¥¨¥¹¥Æ¥£ |
604 |
Quadriplegia and amblyopia »Í»èËãáãµÚ¤Ó¼å»ë |
»Í»è¤ÎËãáã¤È¼å»ë | Two cases of hereditary quadriplegia and amblyopia in a litter of Irish setters (±Ñ¸ì) | AR¤« | I¥»¥Ã¥¿¡¼ |
605 |
Recombination rate ÁÈ´¹¤¨¥Û¥Ã¥È¥¹¥Ý¥Ã¥È |
°äÅÁ»ÒÁÈ´¹¤¨¤ÎÃÖ¤¤ä¤¹¤¤²Õ½ê | * | ñ°ì°äÅÁ»Ò¡¢unknown | * |
606 |
Reduced glutathione deficiency, unclassified *̤ʬÎà¤Î´Ô¸µ·¿¥°¥ë¥¿¥Á¥ª¥ó·ç» |
¶Ì¤Í¤®¤ËͶȯ¤µ¤ì¤ëÍÏ·ì | ¶Ì¤Í¤®ÃæÆǤδ¶¼õÀ¡¢·ì±Õ¤Î¹ÚÁǰ۾Ë̳¤Æ»Âç³Ø¤Ç¸¦µæ¤¢¤ê¡£´ðËÜŪ¤Ë̵¾É¾õ¤ÇÌôÉʤäºÙ¶Ý´¶À÷¤ä¤¢¤ë¿©ÉʤÎÀ®Ê¬(¥Ò¥È¤Ç¤Ï¥½¥é¥Þ¥á)¤¬ÍÏ·ì¤òͶ°ú¤¹¤ë¡£´Ô¸µ·¿¥°¥ë¥¿¥Á¥ª¥ó(GSH)¤ÏNADPH(¥Ë¥³¥Á¥ó¥¢¥ß¥É¥¢¥Ç¥Ë¥ó¥¸¥Ì¥¯¥ì¥ª¥Á¥É¥ê¥ó»À)¤È¤È¤â¤ËÀÖ·ìµå¤Î»À²½¤òËɤ°Ìò³ä¤ò¤¹¤ë¹ÚÁÇ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
607 |
Renal cystadenocarcinoma and nodular dermatofibrosis *¿ÕÀǹ˦Á£¤¬¤óµÚ¤Ó·ëÀáÀÈéÉæÀþ°Ý¾É |
¼ç¤Ë»Í»è¤ÈƬ¤Î¾å¤ÎÈé²¼¤Î¤·¤³¤ê¤È¿Õ¡ÈîÂ硢¿°û¿Ǣ¡¢Ê¢Éô¤ÎËÄËþ¡¢ÉÏ·ì |
Gene: FLCN Ä̾ï5ºÐ°Ê¾å¤Çȯ¾É¡¢¥ª¥¹¤Îȯ¾É¤Ï¥á¥¹¤Î2ÇܤÀ¤¬¥á¥¹¤Ï»ÒµÜ¤Î¼ðáç¤âʻȯ¤¹¤ë¡£1ºÐ°ÊÁ°¤Î¿ÕÀ¸¸¡¤Çǹ˦ÀÉÂÊÑ(AD)¤¬È½ÌÀ |
AD¡¢AR | G¥·¥§¥Ñ |
608 |
Renal disease ¿Õ¡É |
¿Õ¼À´µ¤Î¼ç¤Ê¾É¾õ¤Ï¿°û¿Ǣ¡¢ÓÒÅÇ¡¢ÂνŸº¾¯¡¢¹âÃâÁÇ·ì¾É¡¢¹â¥ê¥ó·ì¾É¡¢Ä㥫¥ë¥·¥¦¥à·ì¾É¡¢ÈóºÆÀ¸ÀÉÏ·ì | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥³¡¼¥®¡¼¡¢¥Á¥ã¥¦¥Á¥ã¥¦ |
609 |
Renal dysplasia ¿Õ·ÁÀ®ÉÔÁ´ |
¿Õ¼À´µ¤Î¾É¾õ¡¦¸ÄÂκ¹¤¬Â礤¤ |
Gene: PTGS2 ÈçÇ¢´ï¤ÏÂÛÀ¸³ØŪ¤ËÊ£»¨¤Êȯ°é¤ò¤¹¤ë¤¿¤á¾¤Î´ï´±¤ËÈæ¤Ù¤Æ¿Õ¡¤ÎÀèÅ·´ñ·Á¤Ï¿¤¤¡£(ÀèÅ·Àñ°ì¿Õcongenital solitary kidney¤Î¾É¾õ;¿Õ·ç»¦¤ÎÊ¢ÄË¡¦À¸¿£´ï´ñ·Á¡¦ÉÔÇ¥¡¦ÇÓÇ¢¾ã³²) OFA¤Ë°äÅÁ»Ò¸¡ºº¤Î°ÆÆ⤢¤ê |
AR¤« | ¿ |
610 |
Renal hypoplasia, bilateral ξ¦À¿Õ·ÁÀ®ÉÔÁ´ |
Ç¢´É¤Î̤ȯã¤Ë¤è¤ëËýÀ¿ÕÉÔÁ´ |
3¡Á24¥ö·î¤Ëȯ¾É¤¹¤ë¤È¤¢¤ë¤Î¤Ç¤³¤Î¹à¤Ï¿ÕÈé¼Á·ÁÀ®ÉÔÁ´¤Î¤è¤¦¤À¡£ »²¹Í;¥Ý¥Ã¥¿¡¼¾É¸õ·²(ÂÛ»ù´ü¤Ëȯ¾É¤¹¤ë(¤È¤¤¤¦¤«·ÁÀ®¤µ¤ì¤ë¤Ù¤»þ´ü¤Ë·ÁÀ®¤¬¤µ¤ì¤Ê¤¤)¤Î¤ÇÍӿ夬¾¯¤Ê¤¯¡¢¤½¤Î·ë²ÌÇÙ¤âÄã·ÁÀ®) |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥Ó¡¼¥°¥ë¡¢¥À¥Ã¥¯¥¹¡¢¥É¡¼¥Ù¥ë¥Þ¥ó |
611 |
Renal insufficiency ¿ÕÉÔÁ´¡¢¿Õµ¡Ç½ÉÔÁ´ |
* | * | unknown | * |
612 |
Renal nephropathy ¿Õ¾ã³² |
* | * | unknown | * |
613 |
Respiratory distress syndrome ¸ÆµÛÂ¥Ç÷¾É¸õ·²¡¢¸ÆµÛµçÇ÷¾É¸õ·² |
* | * | unknown | * |
614 |
Retinal and skeletal dysplasia ÌÖËìµÚ¤Ó¹ü³Ê¤Î°Û·ÁÀ® |
* | * | unknown | * |
615 |
Retinal degeneration II ÌÖËìÊÑÀ¾É¡¡¶·¿ |
* |
Genes:RDS,GNB3 * |
unknown | * |
616 |
Retinal detachment ÌÖËìÇíÎ¥ |
* | ÌܤÎ(¾¤Î)ɵ¤¤ÈÎö¹¦¸¶ÀÌÖËìÇíÎ¥¤Î¸¦µæ | unknown | * |
617 |
Retinal dysplasia ÌÖËì·ÁÀ®ÉÔÁ´ |
»ëÎϾ㳲¡¢¼ºÌÀ | ÌÖËì¤Î·ÁÀ®°Û¾ï¤Ï¡¢»ë³Ð¤Î¸º¾¯¤Þ¤¿¤Ï´°Á´¤ÊÁÓ¼º¤ò¤â¤¿¤é¤¹¡ÊǾ¤ËÁ÷¿®¤¹¤ë»ë³Ð¾ðÊó¤ò¼ý½¸)(´ã¤Î΢ÌÌ¡ËÌÖËì¤ÎÉÔŬÀڤʷÁÀ® | unknown | ¥³¥ê¡¼¡¢¥¹¥Ô¥Ã¥Ä¡¢A¥³¥Ã¥«¡¼¡¢E¥¹¥× |
618 |
Retinal dysplasia and persistent primary vitreous *¸¶È¯À¾Ë»ÒÂβá·ÁÀ®°ä»Ä |
»ëÎϾ㳲 | ¸¶È¯À¾Ë»ÒÂβá·ÁÀ®°ä»Äpersistent hyperplastic primary vitreous ¤ÏÂÛÀ¸´ü¤Ë¼«Á³Âà½Ì¤¹¤ë´ãÁÈ¿¥¤¬»Ä¸¤¹¤ë»ë³Ð¾ã³² | AR | M¥·¥å¥Ê |
619 |
Retinal dystrophy ÌÖË쥸¥¹¥È¥í¥Õ¥£ |
ÌëÌÕ¡¢»ëÎÏÄã²¼ | ¸¤¤¬Â¾¤Î¸¤¤Ë¤¯¤é¤Ù¤Æ¶Ëü¤Ë¤Þ¤Ö¤·¤¬¤ë¾ì¹ç¤Ï¡¢¤³¤Îɵ¤°Ê³°¤Ç¤âÌÖËì¤Î°Û¾ï¤ò¿´ÇÛ¤¹¤ë¤Ù¤¤Ç¤¢¤ë¡£¸µ¤Ë¤Ê¤ë°äÅÁŪ¥È¥é¥Ö¥ë¤¬ÍÍ¡¹¤Ê°Ù¿§¡¹¤Ê°äÅÁ·Á¼°¤ò¤È¤ë¤â¤Î¤¬Èó¾ï¤Ë¿¤¤¡£ÌÖË쥸¥¹¥È¥í¥Õ¥£¤ÏAD¤äXR¤â¸«¤é¤ì¤Æ¤¤¤ë¤è¤¦¤À | * | ¥°¥ì¡¼¥È¥Ç¥ó |
620 |
Retinoschisis ÌÖËìʬΥ¾É |
* | * | unknown | * |
621 |
Rod dysplasia Û¸ÂÎÊÑÀ |
* |
Gene: PRCD Û¸ÂÎ-¿íÂΤÏÌÖËì¤Ë¤¢¤ë»ëºÙ˦¤Î¼ïÎà¤ÇÛ¸ÂÎRod¤Ï°Å¤¤½ê¤ÇƯ¤È¿ÂФ˿íÂÎCone¤ÏÌÀ¤ë¤¤½ê¤ÇƯ¤¯¤Î¤È¿§¤ò¼±Ê̤¹¤ëµ¡Ç½¤ò»ý¤Ä |
AR | * |
622 |
Rod-cone dysplasia Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´ |
* |
Genes:GNGT2 * |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
623 |
Rod-cone dysplasia 1 Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´1·¿ |
* |
Gene: PDE6B * |
AR | * |
624 |
Rod-cone dysplasia 1a Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´1a·¿ |
* |
Gene: PDE6B * |
AR | * |
625 |
Rod-cone dysplasia 2 Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´2·¿ |
* |
Gene: RD3 * |
AR | * |
626 |
Rod-cone dysplasia 3 Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´3·¿ |
* |
Gene: PDE6A * |
AR | * |
627 |
Rod-cone dysplasia 4 Û¸ÂÎ-¿íÂηÁÀ®ÉÔÁ´4·¿ |
* |
Gene: PDE6A * |
¾ïÀ÷¿§ÂÎÀ | * |
628 |
Rupture of the cranial cruciate ligament Á°½½»ú¿ÙÂÓÃÇÎö |
* | 90¤È574¤Î¥³¡¼¥®¡¼¤Î¸¦µæ¤Ç¤ÏAR¤Î²ÄǽÀ¤â¹Í¤¨¤é¤ì¤¿¤½¤¦ | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥³¡¼¥®¡¼ |
629 |
Scoliosis ÀÔÄǦ׿¾É |
Çعü¤¬¿¿¤Ãľ¤°¤Ç¤Ê¤¤¡¢·Ñ³Ū¤ÊÄˤߡ¢¸å»è¤ÎËãáã¤äÇÓÝõ¾ã³² | * | ¾ïÀ÷¿§ÂÎÀ¡¢unknown | * |
630 |
Scott Syndrome ¥¹¥³¥Ã¥È¾É¸õ·² |
·ì±Õ¶Å¸Ç¾ã³² |
Gene: ANO6 |
AR | G¥·¥§¥Ñ |
631 |
Sebaceous adenitis SAÈé»éÁ£±ê |
¶¯¤¤áڤߡ¢²á¾ê¤Ê¥Õ¥±¡¢Ã¦ÌÓ¡¢¥«¥Ó½¤Î¤¢¤ëÉÂÊÑ¡¢Æó¼¡ÅªÈéÉæ´¶À÷¾É |
¹Ã¾õÁ£µ¡Ç½Äã²¼¤ä¥¢¥ì¥ë¥®¡¼¤Î¤è¤¦¤Ê¾É¾õ¤Ï½Å¾É¡£¼£ÎÅË¡¤¬Ìµ¤¤¤¿¤á°Â³Ú»àÂÐ¾Ý OFAÈé»éÁ£±ê¤Î¥Ú¡¼¥¸http://www.offa.org/sa_info.html |
¾ïÀ÷¿§ÂÎÀ¡¢unknown | ¥×¡¼¥É¥ë¡¢½©ÅÄ¡¢¥é¥Ö¡¢¥µ¥â¥¨¥É¡¢¥Ï¥Ð¥Ë¡¼¥º |
632 |
Selective ADP deficiency *ÆÃÄêADP·ç˳ |
*·ì±Õ¶Å¸Ç¾ã³²??? |
¥Õ¥©¥ó¥¦¥£¥ë¥Ö¥é¥ó¥É°ø»Ò¤È·ì¾®ÈÄ¿ô¤ÏÀµ¾ï¤Ç¤â½Ð·ì»þ´Ö¤¬±äŤµ¤ì¤ë??? ADP¤Ï¥¢¥Ç¥Î¥·¥óÆó¥ê¥ó»ÀAdenosine diphosphate¤Îά¤Ç¥¢¥Ç¥Ë¥ó¡¢¥ê¥Ü¡¼¥¹¡¢2¥ê¥ó»Àʬ»Ò¤Ç¹½À®¤µ¤ì¡¢¥¢¥Ç¥Î¥·¥ó»°¥ê¥ó»À¤«¤é1¸Ä¤Î¥ê¥ó»À¤¬¼º¤ï¤ì¤ëÂå¤ï¤ê¤Ë¹â¥¨¥Í¥ë¥®¡¼¤È¥¢¥Ç¥Î¥·¥óÆó¥ê¥ó»À¤ËÊ̤ì¤ë¡£¥¨¥Í¥ë¥®¡¼¤¬Í¿¤¨¤é¤ì¤ë¤È¡¢ºÆ¤ÓÎÕ»À¤È·ë¹ç¤·¡¢¥¢¥Ç¥Î¥·¥ó»°¥ê¥ó»À¤Ø¤ÈÊѲ½¤¹¤ëÂÎÆâʪ¼Á¤Î¤Ò¤È¤Ä¡£ |
AD | * |
633 |
Severe combined immunodeficiency disease, autosomal *¾ïÀ÷¿§ÂνžÉÊ£¹ç·¿ÌȱÖÉÔÁ´¾É |
* |
Genes:PRKDC * |
AR | * |
634 |
Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive *¾ïÀ÷¿§ÂνžÉÊ£¹ç·¿ÌȱÖÉÔÁ´¾ÉTºÙ˦±¢À¡¢BºÙ˦±¢À¡¢NKºÙ˦ÍÛÀ |
* |
Genes:RAG1 * |
AR | * |
635 |
Severe combined immunodeficiency disease, X-linked *XÏ¢º¿À½Å¾ÉÊ£¹ç·¿ÌȱÖÉÔÁ´¾É |
* |
Genes:IL2RG * |
x-linked | * |
636 |
Sex reversal, generic Àʬ²½¾ã³² |
ÉÔÇ¥¡¢À¸¿£´ï(ÀºÁã?)¼ðáç | ¥À¥Ö¥ë¥¨¥Ã¥¯¥¹¤Î¥ª¥¹¡¢¥ª¥¹¤ÎÀ¸¿£´ï¤ò»ý¤Ä¥á¥¹¡¢»ÒµÜ¤ÈÀºÁã¤òξÊýͤ¹¤ë¤Ê¤É¡£±¢·Ô¾õ¹½Â¤¤òͤ¹¤ë¾ì¹ç¤Ë¤Ï¤·¤Ð¤·¤ÐǢϩ³«¸ýÉô¤¬Àèü¤ËÇÛÃÖ¤µ¤ì¤Æ¤¤¤Ê¤¤ | unknown | * |
637 |
Sex reversal: XY female, SRY-positive Àʬ²½¾ã³²¡¡SRYÍÛÀ |
ÉÔÇ¥¡¢À¸¿£´ï(ÀºÁã?)¼ðáç | ɽ¸½·¿¥á¥¹¤ÇÆâÉôÀ¸¿£´ï¤ÏξÊý¤¢¤ë¤Ê¤É¡£SRYÍÛÀ¤Ïɽ¸½·¿¤¬¥ª¥¹¡£À÷¿§Âοô¤Ï78XY¤ÈÀµ¾ï¤Ê¥ª¥¹¤ò¼¨¤¹ | unknown | ¥è¡¼¥¡¼¡¢ÇÏ |
638 |
Short spine *û¤¤ÀÔÄÇ |
¾¯¤Ê¤¤Çعü¡¢¤Í¤¸¤ìÈø¡¢æêÌ糫¸ýÉô¤Î·¹¼Ð¡¢³°¸þ¤¤Îɪ¡¦¤Ò¤¶´ØÀá | ÀÔÃì¤äÄǹü¤Î°µ½Ì¤Ë¤è¤ëÇعü¤Î¿¼¹ï¤Êû½Ì¤Ç¡¢¤«¤ï¤ê¤Ë¹Å²½¤·¤¿Æð¹ü¤ò»ý¤Ä¾ì¹ç¤â¤¢¤ë¡£¼÷Ì¿¤ÏÈæ³ÓŪÀµ¾ï¤À¤¬Ï¾¹ü¤Î¿ô¤Ë¤è¤ê¶»³Ô¤Ë±Æ¶Á¤¬½Ð¤ë¾ì¹ç¤â¤¢¤ë | unknown | * |
639 |
Shoulder luxation ¸ªÃ¦±± |
¸ª´ØÀá¤Îæ±± | ¸ª¤Î¼ð¤ì¤äÄˤߡ¢°ì»þŪ¤Þ¤¿¤Ï±Êµ×Ū¤Êìì¹Ô¤Ç°Û¾ï¤ÊÊâ¹Ô¤ä»ÑÀª¤ò»ý¤Ä | unknown | ¥È¥¤ |
640 |
Skeletal dysplasia 2 (SD2) ¹ü³Ê·ÁÀ®ÉÔÁ´ |
û¤¤Â¡¢Ä㤤¸ª¤Î°ÌÃÖ | ÉԶѹդʾ®¿Í¾É¤Î·Ú¾É·¿ | AR | ¥é¥Ö¡¢¥´¥ë |
641 |
Skeletal dysplasia, FGF4-retrogene-related FGF4¥ì¥È¥í°äÅÁ»Ò´ØÏ¢·¿¡¡¹ü³Ê·ÁÀ®ÉÔÁ´ |
û¤¤»Í»è¤òÆÃħ¤È¤¹¤ëÉÔ¶ÑÅù¤Ê¾®¿Í¾É |
Gene: FGF4 |
unknown | ¥Î¥Ð¥¹¥³¥·¥¢¡¢¥Ó¡¼¥°¥ë |
642 |
Sodium-potassium-ATPase, high activity *¥Ê¥È¥ê¥¦¥à-¥«¥ê¥¦¥à* ¥¢¥Ç¥Î¥·¥ó»°¥ê¥ó»Àʬ²ò¹ÚÁÇ(ATP¥¢¡¼¥¼)*¹â³èÀ(³èÆ°) |
* | * | unknown | * |
643 |
Spherocytosis µå¾õÀÖ·ìµå¾É |
·ì±Õ¸¡ºº¤ÇÀÖ·ìµåÃͤËÂ礤ʰ۾郎¸«¤é¤ì¤Ê¤¤ÍÏ·ìÀÉϷ졢磼𡢲«áÕ¡¢ÃÀÀС¢È¯Ã£ÃÙ±ä | ÍÏ·ìÀÉÏ·ì¤Î°ì¼ï¤Çʸ»úÄ̤êÀÖ·ìµå¤¬µå·Á¤Ë¤Ê¤Ã¤Æ¤¤¤ë¡£µå¾õ¤ÎÀÖ·ìµå¤ÏʪÍýŪ¤Ëç£Â¡¤òÄ̲á¤Ç¤¤ºÇ˲õ¤µ¤ì¤ë¡£(Wiki) | AD | * |
644 |
Spina bifida ÆóʬÀÔÄÇ |
ȯÀ¸Éô°Ì¤«¤é²¼¤Î±¿Æ°µ¡Ç½¤ÈÃγФ¬Ëãáã¡£¿åƬ¾É¡¢»Í»è¤ÎËãáã¤äÊÑ·Á¡¢ç¯æù¡¦Ä¾Ä²¾ã³²¤Ë¤è¤ëÇÓÝõ¾ã³² | ÀÔÄǹü¤ÎÀèŷŪ¤Ê·ÁÀ®ÉÔÁ´¡£ÀÔ¿ñ¤¬ÀÔÄǤγ°¤Ë½Ð¤ÆÌþÃå¤ä»½ý¤·¤Æ¤¤¤ë¤¿¤á¤Ëµ¯¤³¤ëÍÍ¡¹¤Ê¿À·Ð¾ã³²¡£¼ç¤ËÀçÄÇ¡¢¹øÄǤËȯÀ¸¡¢µ©¤Ë¶»ÄÇ¡¢·ÛÄǤˤâÀ¸¤¸¤ë | unknown | * |
645 |
Spina bifida occulta ÀøºßÀÆóʬÀÔÄÇ |
* | ÀèŷŪÀÔÄÇÌþ¹çÉÔÁ´¤ÇÊĺ¿À¤ÎÉÂÂÖ | unknown | * |
646 |
Spinal dysraphism ÀÔÄÇÌþ¹çÉÔÁ´ |
* | ÀèŷŪ¤ÊÄǵݷÁÀ®ÉÔÁ´¤Ë¤è¤êÀÔÄǤΰìÉô¤¬³«¤¤¤¿¾õÂÖ | unknown | * |
647 |
Spinal intradural arachnoid cyst ÀÔ¿ñ¹ÅËìÆâ¡¡¤¯¤âËìǹ˦ |
* | ÀèŷŪ¤ÊÄǵݷÁÀ®ÉÔÁ´¤Ë¤è¤êÀÔÄǤΰìÉô¤¬³«¤¤¤¿¾õÂÖ | unknown | ¥Ñ¥° |
648 |
Spinal muscular atrophy ÀÔ¿ñÀ¶Ú°à½Ì¾É |
·ÚÅ٤ǤÏâдݰà½Ì¡¢¥á¥¹²½Æý˼¡¢ÈéÉæÊѲ½¤Ê¤É¥¢¥ó¥É¥í¥²¥óÉÔÁ´¾É¸õ¡£Êâ¹Ôº¤Æñ¡£¿Ê¹Ô¤¹¤ë¤ÈÓë²¼¾ã³²¡¢¸ÆµÛÉÔÁ´¤Ê¤É¤«¤é»àË´¡£*** |
ÀÔ¿ñ¤ÈǾ´´¤Î¿À·ÐºÙ˦¤¬ÊÑÀ¤·¤Æ¡¢¿Ê¹ÔÀ¤Î¶ÚÎÏÄã²¼¤È°à½Ì¤¬µ¯¤³¤ë°äÅÁÀ¼À´µ¡£µÞÀ·¿(¿·À¸»ù´ü)¤Ï¥¦¥§¥ë¥É¥Ë¥Ã¥Ò¡¾¥Û¥Õ¥Þ¥óÉ¡£ËýÀ·¿(ÀÀ®½ÏÁ°)¤Ï¥ô¥©¡¼¥ë¥Õ¥¡¥ë¥È¡¾¥¯¡¼¥²¥ë¥Ù¥ë¥¯¡¾¥ô¥§¥é¥ó¥Ç¥ëÉ¡£´Ë½ù¿Ê¹ÔÀ¡£
»²¹Í¡§¥Ò¥È¢ªµåÀÔ¿ñÀ¶Ú°à½Ì¾É¡Ê¤¤å¤¦¤»¤¤º¤¤¤»¤¤¤¤ó¤¤¤·¤å¤¯¤·¤ç¤¦) |
ñ°ì°äÅÁ»Ò¡£ÎôÀ??? | * |
649 |
Spondylocostal dysostosis, autosomal recessive ÀøÀÀÔÄÇϾ¹ü°Û¹ü¾É |
* | * | AR | ¡ö |
650 |
Spondyloepiphyseal dysplasia, congential type ÀÔÄǹüü°Û·ÁÀ®¾É¡¢ÀèÅ·À¤Î¥¿¥¤¥× |
* | * | X-linked | ¥Ç¥Ë¥Ã¥·¥å¥¹¥¦¥§¥Ç¥£¥Ã¥·¥å¥Õ¥¡¡¼¥à¥Ï¥¦¥ó¥É |
651 |
Spondylosis deformans ÊÑ·ÁÀÀÔÄǾɡ¢ÊÑ·ÁÀÀÔÄÇ´ØÀá¾É |
* | * | unknown | * |
652 |
Spongiform encephalopathy ³¤ÌʾõǾ¾É |
* | * | unknown | * |
653 |
Squamous cell carcinoma of the digit ¤Ä¤ÞÀè¤Î٨ʿ¾åÈ餬¤ó |
* |
Gene: KITLG * |
¿°ø»Ò | S¥×¡¼¥É¥ë¡¢G¥·¥å¥Ê |
654 |
Stenosis, spinal ÀÔÃì´É¶¹ºõ¾É |
* |
ÀèÅ·ÀÀÔÄÇ´ñ·Á¤Î¤Ò¤È¤Ä 2013/8NEW |
unknown | * |
655 |
Stereotypes ¾ïƱ¹ÔÆ° |
* | * | unknown | * |
656 |
Stereotypical hypersociability *** |
* | * | unknown | * |
657 |
Stevens-Johnson syndrome ¥¹¥Æ¥£¡¼¥ô¥ó¥¹¡¦¥¸¥ç¥ó¥½¥ó¾É¸õ·² |
¿©Í߸ºÂà¡¢¹âÇ®¡¢Á´¿È¤ËÞú½ÐÀ¹ÈÈᢿåá×À¹ÈÈáÁ»ç¹È¿§Èä¬Â¿È¯»¶ºß | ÌôºÞͶȯÀ¡Ê¥Ò¥È¤Ç¤Ï¥¦¥¤¥ë¥¹´¶À÷¤¬¤¤Ã¤«¤±¤È¤Ê¤ë¤³¤È¤â¡ËÈéÉæÇ´Ëì´ã¾É¸õ·²¡£Ìܤξɾõ¤Ï´ãµå·ëËì¤Î½¼·ì¡¢µ¶Ëì·ÁÀ®¡¢³ÑËì¾åÈé¤Î¤Ó¤é¤ó¡Ê¾åÈé·ç»¡Ë¡££´ºÐ¥á¥¹¤Î¥°¥ì¡¼¥È¥Ç¥ó¤¬¥Õ¥§¥Î¥Ð¥ë¥Ó¥¿¡¼¥ëͶȯ¤Çȯ¾É¤·¤¿¤³¤È¤Î¸¦µæ | unknown | ¥Ç¥ó |
658 |
Stiff skin syndrome *¹Å¤¤ÈéÉæ¾É¸õ·² |
ÈéÉæ¤Î¹Å·ë¡¢»Í»è¤äÁ´¿È¤Î¹´½Ì¡¢¿¿Èé¤ÎÀþ°Ý²½¡¦Èî¸ü¡¢¸ý¤äÌܤ¬ÊĤ¸¤Ê¤¤ | ¥¹¥Æ¥£¥Õ¥Ñ¡¼¥½¥ó¾É¸õ·²¤È¤ÏÊÌ¡£Á´¿ÈÀ¤Þ¤¿¤Ï¸Â¶ÉÀ¶¯Èé¾É | AR | ¥¦¥¨¥¹¥Æ¥£ |
659 |
Stomatocytosis ¸ý(¿°)¾õÀÖ·ìµå¾É¡¢Í¸ýÀÖ·ìµå¾É |
¸åÅ·À¤ÎÍÏ·ìÀÉÏ·ì¡¢·ìÇ¢(·ìÇ¢¤ÏÄ«¤¬Â¿¤¤) | ÀèÅ·À¤ÎÀÖ·ìµå°Û¾ï¾É¡£ÀÖ·ìµå¤ÏÄ̾￿¤óÃ椬¤¯¤Ü¤ó¤À±ßÈ×·¿¤À¤¬¤³¤Îɵ¤¤Ç¤Ï¤¯¤Ü¤ß¤ÎÉôʬ¤¬Âʱ߷¿¤Ç¸ý¤ò¹¤²¤¿¤è¤¦¤Ë¸«¤¨¤ë¡£ | unknown | * |
660 |
Subaortic stenosis ÂçÆ°Ì®ÊÛ²¼¶¹ºõ¾É |
±¿Æ°ÉÔÂÑÀ¡¢¿´»¨²»¡¢ÉÔÀ°Ì® | ***¾å¤Ê¤é¥¦¥¤¥ê¥¢¥à¥º¾É¸õ·²¡£ÁÎ˹ÊÛÊĺ¿ÉÔÁ´¾É¤ò¹çÊ»¤·¤ä¤¹¤¤¡£50%ÄøÅ٤褤Ï3ºÐ°Ì¤ÇÆÍÁ³»à¤È¤Ê¤ëÀâ¤â¤¢¤ê |
unknown AD¤ÎÎ㤢¤ê |
* |
661 |
Sudden death ÆÍÁ³»à |
¤³¤ì¤È¤¤¤Ã¤¿Ãû¸õ¤¬¸«Åö¤¿¤é¤Ê¤¤¤Î¤ËÆÍÁ³»àË´¤¹¤ë¾õÂÖ | * | unknown | * |
662 |
Swimming pup syndrome ¥¹¥¤¥ß¥ó¥°¥Ñ¥Ô¡¼¾É¸õ·² |
»Í»è¤¬³°Â¦¤Ë¹¤¬¤êÊâ¹ÔÉÔǽ | µ¯Î©ÉÔǽ¡£»Í»è¤ò¤Ð¤¿¤Ä¤«¤»¤ëÍͻҤ¬¿å±Ë¤Î¤è¤¦¤Ë¶»Éô¤ÇÇç¤Ã¤ÆÆ°¤À®Ä¹¤¹¤ë¤¬½ÅÅ٤ǤϸƵۺ¤Æñ | unknown | ¥é¥Ö¡¢¥Ú¥¡¢¥Ô¥ì¡¢¥³¥Ã¥«¡¼¡¢¥Ü¥¹¥Æ¥ê¡¢¥Ö¡¼¥Ó¥¨ |
663 |
Syndactyly (mule foot) ¹ç»Ø(ìæ)¾É |
2¤Ä¤Þ¤¿¤Ï¤½¤ì°Ê¾å¤Î¤Ä¤ÞÀè¤ÎÍ»¹ç | »Ø¤Î´Ö¤Î¹ü¤Þ¤¿¤ÏÆð¹ü¤ÎÁ´Éô¤«ÉôʬŪ¤ÊÍ»¹ç¡£Êâ¹Ô¤ÎºÝ¤ÎÉÔŬÀÚ¤ÊÂνŰÜÆ°¤«¤é´ØÀá±ê¤Ë¤Ä¤Ê¤¬¤ë¤³¤È¤â¤¢¤ë | unknown | ¥Þ¡¼¥ëÊÁ |
664 |
Syringomyelia ÀÔ¿ñ¶õƶ¾É |
¿Ê¹ÔÀ¤Î»Í»è¤Î¤·¤Ó¤ì¡¦¤Ä¤Ã¤Ñ¤ê¡¢²¹³Ð¾ã³²¡¢Ä˳о㳲¡¢¶ÚÆù¤ÎÁ餻¡¢²»¤ä¿¶Æ°¤Ë²áÉÒ¡¢·ÛÉô¥¹¥¯¥é¥Ã¥Á¥ó¥°¡Ê¶õÁߤ¡Ë | Ǿ¤äÀÔ¿ñ¤Ï³°Éô¤Î¾×·â¤«¤é¼é¤ë¤¿¤áǾÀÔ¿ñ±Õ¤ÎÃæ¤ËÉ⤫¤ó¤Ç¤¤¤ë¤¬¡¢ÀÔ¿ñ¤ÎÃæ¤ËǾÀÔ¿ñ±Õ¤¬¤¿¤Þ¤Ã¤¿Â礤ʶõƶ¤¬¤Ç¤¤ÆÀÔ¿ñ¤òÆ⦤«¤é°µÇ÷¤¹¤ë¤³¤È¤Ç¿À·Ð¾É¾õ¤äÁ´¿È¾É¾õ¤¬µ¯¤³¤ë¡£¼ó¤ä¶»¤Î¤¢¤¿¤ê¤Ë1¸Ä¤Þ¤¿¤ÏÊ£¿ô¤Î¶õƶ¤¬Ãæ¿´´É¤Î¸åÊý¤Ë¤Ç¤¤ë¤³¤È¤¬Â¿¤¤¡£¿ÇÃǤÏMRI | ¿°ø»Ò | ¥¥ã¥Ð¥ê¥¢¡¢¥ï¥¤¥Þ¡¢¥Ó¥º¥é |
665 |
Systemic lupus erythematosus Á´¿ÈÀ¥¨¥ê¥Æ¥Þ¥È¡¼¥Ç¥¹(SLE) |
¤Æ¤ó¤«¤ó¡¢´ØÀá¤Î±ê¾É¡¢ÈéÉæ¤Îȯ¿¾¡¢Ã¦ÌÓ¡¢¸ý¹ÐÆâÄÙáç¤ä¤½¤Î¾Á´¿È¤Î¤¿¤À¤ì¡¢Ç٤俴¡Éô°Ì¤ÎÄˤߡ£¥á¥¹¤Ë¿¤¯È¯¾ð¼þ´ü¤Ëȼ¤Ã¤Æ¾É¾õ¤Î·Ú½Å¤ÎÊѲ½¡£ | ´ØÀá¡¢¿Õ¡¡¢Ç´Ëì¡¢·ì´ÉÊɤ˵¯¤³¤ëËýÀ¡¢±ê¾ÉÀ¤Î·ë¹çÁÈ¿¥¼À´µ¡£ | unknown | * |
666 |
Tachycardia ÉÑÇï¾É¡¢ÉÑÌ®¾É |
Ì®Çï¿ô¤¬Â¿¤¤ | Ì®Çï¿ô¤¬Àµ¾ïÈϰϤòĶ¤¨¤ÆÁý²Ã¤·¤¿¾õÂÖ¡£Æ¶ÉÑÌ®¡¢È¯ºîÀ¾å¼¼ÀÉÑÌ®¡¢È¯ºîÀ¿´¼¼ÀÉÑÌ®¡¢¿´Ë¼ºÙ¡¦ÁÆÆ°¡¢¿´¼¼ºÙ¡¦ÁÆÆ°¤Ë¤è¤Ã¤Æ¤ß¤é¤ì¤ë¤³¤È¤â¤¢¤ë | unknown | * |
667 |
Tail abnormalities Èø¤Î´ñ·Á |
* | * | unknown | * |
668 |
Tail chasing ÈøÄɤ¤¹ÔÆ° |
°Û¾ï¤Ë¥·¥Ã¥Ý¤òÄɤ¦¹ÔÆ° | °¡±ôµÛ¼ý¤Ë´ØÏ¢¤¹¤ë¤³¤È¤¬¸¶°ø¤Çµ¯¤³¤ë¿À·ÐŪ°Û¾ï¹ÔÆ°¡£°Â³Ú»àÂоݤȤʤ륱¡¼¥¹¤â¤¢¤ë | unknown | * |
669 | Tail, curl ´¬¤Èø |
´¬¤Èø | * | unknown | * |
670 | Tail, short û¤¤Èø |
¥·¥ç¡¼¥È¥Æ¥¤¥ë¡¢¥Ü¥Ö¥Æ¥¤¥ë |
Genes: T T°äÅÁ»Ò¤¬±Æ¶Á¤·¤Æ¥Ü¥Ö¥Æ¥¤¥ë¤Ë¤Ê¤ë¸¤¼ï¤ÈT°äÅÁ»Ò°Ê³°¤Î°ø»Ò¤Ë¤è¤ë¸¤¼ï¤¬¤¢¤ë¤è¤¦¤À¡£¥¹¥¦¥§¥Ç¥£¥Ã¥·¥å¥ô¥¡¥ë¥Õ¥ó¥ÈSwedish vallhund ¡Ý¥¹¥¦¥§¡¼¥Ç¥ó¸¶»º¤Î¥³¡¼¥®¡¼¤Ë»÷¤¿ËÒÍÓ¸¤¡Ý¤Ë¤ÏĹÈø¤ÈûÈø¤¬Â¸ºß¤·¡¢Ã»ÈøƱ»Î¤Îξ¿Æ¸¤¤«¤é»º¤Þ¤ì¤¿°ìÂÛ»Ò¤ÏĹÈøƱ»Î¤Îξ¿Æ¸¤¤«¤é»º¤Þ¤ì¤¿¤â¤Î¤è¤ê29%¤Û¤ÉÂη¿¥µ¥¤¥º¤Îâä¾®²½¤¬¸«¤é¤ì¤¿¡£ |
AD | * |
671 |
Taillessness ̵Èø |
Èø¤¬Ìµ¤¤¾õÂÖ | ÀÔ¿ñ¤Î·ç»¤Ë¤è¤ë̵Èø¤Ç¤¢¤ì¤Ð½é´ü¤ÎÂÛ»ù¤¬»à¤Ì³ÎΨ¤¬¹â¤¯¡¢À¸¤Þ¤ì¤Æ¤âº¿æê¤Ê¤É½ÅÅ٤ξ㳲¡£¥Ú¥ó¥Ö¥í¡¼¥¯¥³¡¼¥®¡¼¤Ê¤É¤Ï¸½ºßÃÇÈøÇѻߡ¦¶Ø»ß¤Î¾ðÀª¤ò¼õ¤±¤Æ¡¢ÀÔÄǤ¬Â»½ý¤µ¤ì¤Æ¤¤¤Ê¤¤ÌµÈø¤òÈË¿£¤µ¤»¤ëÅØÎϤ¬¸«¤é¤ì¤ë¤è¤¦¤À¡£ | unknown | * |
672 |
Tapetal degeneration ¥¿¥Ú¥¿¥àÊÑÀ¾É |
ÌëÌÕ |
¥¿¥Ú¥¿¥à¤È¤ÏÌÖËì¤Î²¼¤Ë¤¢¤ë¸÷¤òÈ¿¼Í¤¹¤ëÁÈ¿¥¤Ç¡¢¤ï¤º¤«¤Ê¸÷¤·¤«Ìµ¤¤°Å¤¤½ê¤Ç¤â¤Î¤ò¸«¤ë¤Î¤ËÌòΩ¤Ä´ï´±¡£ ÊÑÀ¾É¤Ç¤ÏÀ¸¸å3½µÌܤޤǤÏÉáÄ̤À¤¬¡¢¤½¤Î¸å1¡Á2ǯ¤Ç¥¿¥Ú¥¿¥à¤ÎÁ´¤Æ¤¬ÁÓ¼º¤µ¤ì¤ë¡£ÌÖËì¤ÏÀµ¾ï¡£Æ·¹¦Ëì°ä»Ä¤Ë¹çÊ»¤¹¤ë¤³¤È¤â¤¢¤ë¡£ |
unknown | ¥Ó¡¼¥°¥ë¡¢¥Ü¥ë¥¾¥¤ |
673 |
Telomere length ¥Æ¥í¥á¥¢¤ÎŤµ |
* | ¥Æ¥í¥á¥¢¤È¤ÏÀ÷¿§ÂΤÎËöü¤Ë¤¢¤ëÊݸ¤¤Ç¡¢ºÙ˦ʬÎö¤Î¤¿¤Ó¤Ë»¤¤ê¸º¤Ã¤Æ¤¤¤¯¤â¤Î¡£Éʼï¤Î¼÷Ì¿¤È´ØÏ¢¤¬¤¢¤ë¤Î¤Ç¤Ï¤È¸¦µæ¤µ¤ì¤Æ¤¤¤ë | unknown | * |
674 |
Tetralogy of fallot ¥Õ¥¡¥í¡¼»Íħ¾É |
¥Á¥¢¥Î¡¼¥¼¡¢Ê¢¿å¡¢¸ÆµÛº¤Æñ¡¢±¿Æ°ÉÔÂÑ | ¿´¼¼Ãæ³Ö·ç»¡¦ÇÙÆ°Ì®¶¹ºõ¡¦ÂçÆ°Ì®µ³¾è¡¦±¦¿´ÈîÂç¤òȼ¤¦ÀèÅ·À¿´´ñ·Á | unknown | * |
675 |
Thrombasthenia ·ì¾®ÈÄ̵ÎÏ¾É |
¤Û¤È¤ó¤É¤Î·ì¾®ÈĤΥȥé¥Ö¥ë¤Ï¥á¥¹¤Îȯ¾ð½Ð·ì¤Î½Ð·ìÎ̤ȴü´Ö¤ò¿¤¯¤¹¤ë ½Ð·ì»þ´Ö¤Î±äĹ¡¢¸¤¤Ç¤Ïµ©¤ÊÉ¡·ì¤Ê¤É¤â¤è¤¯¸«¤é¤ì¤ë |
Genes: ITGA2B ·ì¾®ÈĤˤè¤ë°ì¼¡»ß·ì¤¬ÃÙ¤ì¤Æ½Ð·ì»þ´Ö¤¬±äŤ¹¤ë¡£½Ð·ìÍͼ°¤ÏÈéÉæÇ´Ëì½Ð·ì¤¬Ãæ¿´¡£Î±¼éÃæ¤ä½¢¿²Ãæ¤Î½Ð·ì¤Ëµ¤¤Å¤¯¤Î¤¬ÃÙ¤ì¤ë¤ÈÂçÎ̽зì¤È¤Ê¤ë¾ì¹ç¤â¤¢¤ë¡£ |
¾ïÀ÷¿§ÂÎÀ | * |
676 |
Thrombocytopaenia ·ì¾®Èĸº¾¯¾É |
·ì¾®ÈĤ¬¾¯¤Ê¤¯¤Ê¤ë¤³¤È¤Ë¤è¤Ã¤Æµ¯¤¤ëÈé²¼½Ð·ì¤ä»ß·ì°Û¾ï |
Genes: TUBB ·ì¾®ÈĤˤè¤ë°ì¼¡»ß·ì¤¬ÃÙ¤ì¤Æ½Ð·ì»þ´Ö¤¬±äŤ¹¤ë¡£½Ð·ìÍͼ°¤ÏÈéÉæÇ´Ëì½Ð·ì¤¬Ãæ¿´ |
AR | ¥¥ã¥Ð¥ê¥¢ |
677 |
Thrombocytopathy ·ì¾®ÈÄ¾É |
Äˤߤ䤷¤Ó¤ì¡¢¤á¤Þ¤¤¤äƬÄˤǸµµ¤¾ÃÄÀ |
·ì¾®ÈĤ¬°Û¾ï¤ËÁý¤¨¤ë¤³¤È¤Ë¤è¤Ã¤Æ·ìÀò¤¬¤Ç¤¤ä¤¹¤¯¤Ê¤ë(Áý¤¨¤ë¸¶°ø¤Ï¿¤¯¤¬Â¤·ì´´ºÙ˦¤Î°Û¾ïÁý¿£) ¥Þ¥¦¥¹¤Ç¤ª¤³¤Ê¤ï¤ì¤¿¼Â¸³¤Ç¡¢´Î¡¤ÎȾʬ¤Û¤ÉÀÚ½ü¤·¤¿¥Þ¥¦¥¹¤Ë·ì¾®ÈÄÍ¢·ì¤ÇÊ¿¾ï¤ÎÇܤۤɤËÁý¤ä¤¹¤È´Î¡¤ÎºÆÀ¸¤¬Â¥¿Ê¤µ¤ì¤¿¡£ |
unknown | * |
678 |
Thrombocytopenic purpura, autoimmune ¼«¸ÊÌȱÖÀ·ì¾®Èĸº¾¯À»çÈÃÉ |
ÅÀ¾õ½Ð·ì¡¦»çÈᣲ¼·ì¤ä·ìÇ¢¡¢»õ·Ô¤äÉ¡¡¦Æ¬³¸Æâ½Ð·ì¤â¤¢¤ë¡£ |
³°²Ê¼ê½Ñ¤Î¸å¤ËÈé²¼½Ð·ì¤¬µ¯¤¤Æ¾Ü¤·¤¯¸¡ºº¤¹¤ë¤Èȯ³Ð¤¹¤ë¤³¤È¤¬¤¢¤ë¤¬¡¢Ä̾ï¤ÏÀÖ·ìµå¤äÇò·ìµå¤Ë°Û¾ï¤¬¸«¤é¤ì¤Ê¤¤°Ù¡Ö·Ú¤¯¤Ö¤Ä¤±¤¿¤À¤±¡×¤Ê¤É¤È¤¤¤¦¿ÇÃǤ¬Â¿¤¤¤È¹Í¤¨¤é¤ì¤ë¡£ »²¾È;¥Ò¥È¤ÎÆÃȯÀ·ì¾®Èĸº¾¯À»çÈÃÉ |
unknown | * |
679 |
Thrombopathia *·ì¾®Èĸº¾¯ |
·ì¾®ÈĤ¬¸º¾¯¤¹¤ë¤³¤È¤½¤Î¤â¤Î |
Genes: RASGRP1 ·ì±Õ¶Å¸Ç¾ã³² |
AR | ¥Ð¥»¥Ã¥È¡¢¥¹¥Ô¥Ã¥Ä |
680 |
Thromboxane responsiveness of platelets *¥È¥í¥ó¥Ü¥¥µ¥óÈ¿±þÀ·ì¾®ÈÄ |
* | *¥È¥í¥ó¥Ü¥¥µ¥ó¤Ï·ì¾®ÈĤÇ¿¤¯»ºÀ¸¤µ¤ì·ì¾®ÈĤζŽ¸¤ä·ì´ÉÊɤμý½Ì¤ò°ú¤µ¯¤³¤¹¥ª¥¥µ¥ó´Ä¤òͤ¹¤ëÀ¸Íý³èÀʪ¼Á¤Î°ì·²¡¢TX¡£ | AR | * |
681 |
Thyroiditis ¹Ã¾õÁ£±ê |
¹Ã¾õÁ£¤Î¼ðı¡¢ÄË¤ß | ¼«¸ÊÌȱּÀ´µ¤Ê¤É¤Ç¹Ã¾õÁ£¤¬±ê¾É¤òµ¯¤³¤¹(¶¶ËÜÉÂ) | unknown | * |
Transitional cell carcinoma °Ü¹Ô¾åÈ餬¤ó |
°Ü¹Ô¾åÈéÁÈ¿¥¤ËͳÍ褹¤ë´â¼ð¡¢¾åÈéÀ¤Î°À¼ðáç | °Ü¹Ô¾åÈé(´ï´±¤Î³ÈÄ¥¤ª¤è¤Ó¼ý½Ì¤Ç¤½¤Î·ÁÂÖ¤òÃø¤·¤¯ÊѲ½¤µ¤»¤ë¿ÕÈס¢Ç¢´É¡¢ç¯æù¡¢Ç¢Æ»¤È¾åµ¤Æ»¤Î¾åÈé)ÁÈ¿¥¤ËͳÍ褹¤ë´â¼ð¤Ç¡¢¾åÈéÀ¤Î°À¼ðáç¤Ç¤¢¤ë¡£ç¯æù¤äÇ¢´É¤Ê¤É¤ÎǢϩ·Ï¤Î´â¤¬Â¿¤¤¤³¤È¤«¤éǢϩ¾åÈé´â¡Ê¤Ë¤ç¤¦¤í¤¸¤ç¤¦¤Ò¤¬¤ó¡¢±Ñ: urothelial carcinoma¡Ë¤È¤â¸Æ¤Ð¤ì¤ë(Wiki) | * | ¥¹¥³¥Ã¥Á¥Æ¥ê¥¢ | |
682 |
Transitional lumbosacral vertebrae »ÃÄê¹øÀçÄǹü |
* |
Transitional vertebral segments*°Ü¹ÔÀ*Äǹü¤Î*ʬÀá Âδ´¤ÎÃì¤Ë¤Ê¤ë¹ü³Ê¤òÀÔÃì¤È¸À¤¤¡¢ÀÔÃì¤ÏÁ°¸å¤Ç¸ß¤¤¤ËÏ¢·ë¤¹¤ëÄǹü¤Ç½ÐÍè¤Æ¤¤¤ë¡£Äǹü(¤Þ¤¿¤ÏÀÔÄǹüvertebra)¤ÏÀÔÄǤÎʬÀá¤ò¤Ê¤¹¸Ä¡¹¤Î¹ü¤Î¤³¤È¤Ç½Ä°ìÎó¤Ëʤó¤Ç¤ª¤ê¸¤¤Î¾ì¹ç¾å¤«¤é½ç¤Ë·ÛÄÇ(C)7¸Ä¡¢¶»ÄÇ(T)13¸Ä¡¢¹øÄÇ(L)7¸Ä¡¢ÀçÄÇ(S)3¸Ä¡¢ÈøÄÇ(Cd)20-24¸Ä¤Î50¡Á54¸Ä(¥Ò¥È¤Ï32¡Á35¸Ä)¸ºß¤¹¤ë(»²¹Í½ñÀÒ¡¨¸¤¤ÈǤβò˶¥»¥ß¥Ê¡¼-´ðÁäÈÎ×¾²-96ǯ¥¤¥ó¥¿¡¼¥º¡¼È¯¹Ô) |
unknown | * |
683 |
Trapped Neutrophil Syndrome Ê᪹¥Ãæµå¾É¸õ·² |
¶Ëü¤ÊÀ®Ä¹Ãٱ䡢³Ø½¬¾ã³²(Àº¿ÀÃÙÂÚ)¡¢¾Ã²½´É¾ã³²¡¢°×´¶À÷¡¢Ç˹ԡ¢½Û´Ä·ì±ÕÆâ¤Î¹¥Ãæµå¤¬¸º¾¯(¹ü¿ñ¤Çºî¤é¤ì¤Æ¤Ï¤¤¤ë) |
Genes: VPS13B ¹¥Ãæµå¸º¾¯¡¦ºÆȯÀ´¶À÷¾É¡¦¥Ò¥È¤Îmyelokathexis(¥ß¥¨¥í¥«¥»¥¥·¥¹¾É¸õ·²)¤È¥¤¥Ü¡¦Ä㥬¥ó¥Þ¥°¥í¥Ö¥ê¥ó·ì¾É¡¦°×´¶À÷À¡¦¹ü¿ñÀºÙ˦Ãùα¾É¸õ·²¤ò¹çÊ»¤¹¤ëWHIM(¥¦¥¤¥à)¾É¸õ·²¤Ë»÷¤Æ¤¤¤ë¡£Í½¸åÉÔÎÉ¡¢Áá´ü¡Á¼ãÎð»àË´¡£2012ǯ¤Ë¼¯»ùÅçÂç³ØÂçϽ¤½Ã°å³ØÇî»Î¤é¤Î¸¦µæ(NCBI) |
AR | ¥Ü¡¼¥À¡¼ |
684 |
Tremor ¿¶Àï |
°ìÉô¤Î¶ÚÆù¤Þ¤¿¤ÏÁ´¿È¤ÎÉÔ¿ï°Õ¤Ê¼ý½Ì¤ÈÃдˤ竤êÊÖ¤· | Ǿ¤Î³¤ÌʾõÊÑÀ¤Ë¤è¤ë¿¶À郎2Ƭ¤Î¸ò»¨¼ï¤Î·»Ä︤¤Ë¸«¤é¤ì¤¿Î㤬¥¹¥¤¥¹¤Î¥Ù¥ë¥óÂç³Ø¤Ë¤¢¤ëÌÏÍÍ¡£¥Û¥ï¥¤¥È¥É¥Ã¥°¥·¥§¥¤¥«¡¼¾É¸õ·²¤Ê¤É | unknown | ÇòÌӤθ¤ |
685 |
Tremor syndrome with central axonopathy *¿¶Àï¾É¸õ·²¤òȼ¤¦Ãæ¿´À¼´º÷¾ã³²??? |
* | * | unknown | * |
686 |
Tremor, X-linked *XÏ¢º¿¿¶Àï |
¿¶Àﻲ¾È |
Gene: PLP1 ÊÌ̾¥·¥§¥¤¥¥ó¥°¥Ñ¥Ô¡¼É |
XR | * |
687 |
Tricuspid valve dysplasia »°ÀíÊÛ(±¦Ë¼¼¼ÊÛ)·ÁÀ®ÉÔÁ´ |
¿´»¨²»¡¢±¦¿´ÉÔÁ´¾É¾õ¡¢¤½¤Î¾¿´Â¡É¤ξɾõ | »°ÀíÊÛ¡¦¤µ¤ó¤»¤ó¤Ù¤ó¡¦tricuspid valve¤Ï¿´Â¡¤Î±¦¿´Ë¼¤È±¦¿´¼¼¤Î´Ö¤Ë¤¢¤ëÊÛ¡£±¦Ë¼¼¼ÊۤȤ⤤¤¦¡£·ì±Õ¤ÏÁ´¿È¢ª±¦¿´Ë¼¢ª¡Ê»°ÀíÊÛ¡Ë¢ª±¦¿´¼¼¢ªÇÙ¢ªº¸¿´Ë¼¢ªº¸¿´¼¼¢ªÁ´¿È¤È½Û´Ä¤¹¤ë¤Î¤À¤¬¡¢»°ÀíÊÛ¤ÎÌò³ä¤Ï·ì±Õ¤¬±¦¿´¼¼¤«¤éÇÙ¤ËÁ÷¤ê½Ð¤µ¤ì¤ëºÝ¡¢±¦¿´Ë¼¤Ë·ì±Õ¤¬µÕή¤·¤Ê¤¤¤è¤¦¤Ë¤¹¤ë¤³¤È¡£Ebstain¥¨¥×¥¹¥¿¥¤¥ó´ñ·¿¤ä¥Þ¥ë¥Õ¥¡¥ó¾É¸õ·²¤Ê¤É¤Ç¤âÊۤι½Â¤°Û¾ï¤¬¸«¤é¤ì¤ë¡£#ÁÎ˹ÊÛÊĺ¿ÉÔÁ´¾É¡¦#ÇÙ¹â·ì°µ¾É¤Ê¤É¤Ç°ú¤µ¯¤³¤ë¾ì¹ç¤â¤¢¤ë | unknown | * |
688 |
Upper airway syndrome ¾åµ¤Æ»Êĺɾɸõ·² |
¸ÆµÛº¤Æñ |
ûƬ¼ï¤Î¤½¤ì¤È¤Ïµ¡½ø¤¬°ã¤¦¤è¤¦¤À
2013/12NEW |
unknown | ¥Î¡¼¥ê¥Ã¥Á |
689 |
Urolith, cystine *¥·¥¹¥Á¥óǢϩ·ëÀÐ |
* | Ç¢Ãæ¤ËÇӽФµ¤ì¤¿¥·¥¹¥Á¥ó¤ÏºÆµÛ¼ý¤µ¤ì¤Ê¤¤¤ÈÇ¢ÃæÇ»ÅÙ¤¬¹â¤¯¤Ê¤ê·ë¾½¤¹¤ë¤¬¡¢·ë¾½¤¬Â礤¯¤Ê¤ë¤ÈÇò¿§¤ÎÇ¢·ëÀФȤʤ롣 | unknown | * |
690 |
Urolith, KMgP *KMgPǢϩ·ëÀÐ |
ÉÑÇ¢¡¢Ç¢Ï©´¶À÷¡¢ÇÓÇ¢º¤Æñ¡¢ÓÒÅÇ¡¦²¼Î¡¡¢(½ùÌ®) | Ç¢Ãæ¤Î¥ß¥Í¥é¥ë¡¢¥«¥ê¥¦¥à¡¢¥Þ¥°¥Í¥·¥¦¥à¡¢¥ê¥ó¤Ë¤è¤ë·ë¾½·ÁÀ® | unknown | Ç |
691 |
Urolith, urate *Ç¢»ÀǢϩ·ëÀÐ |
* | Ç¢»À¤Ï¹âÇ¢»À·ì¾É¤ä¹âÇ¢»ÀÇ¢¾É¤Ê¤ÉÇ¢¤¬»ÀÀ¤Ë¤Ê¤Ã¤¿»þ¤Ë¤Ç¤¤ä¤¹¤¤ | unknown | * |
692 |
Urolithiasis Ǣϩ·ëÀÐ¾É |
* |
Genes: SLC2A9 Ǣϩ¤È¤Ï¿Õ¡¤«¤éÇ¢´É¡¢ç¯æù¤òÄ̤äÆǢƻ¸ý¤Ë¤¤¤¿¤ëÉôʬ |
unknown | * |
693 |
Valvular pulmonic stenosis ÇÙÆ°Ì®ÊÛ¶¹ºõ¾É |
¿´Â¡É¤ξɾõ¡¢±¦¼¼ÈîÂç | ÇÙÆ°Ì®Êۤζ¹ºõ¤ò¸¶°ø¤È¤¹¤ë±¦¿´¼¼¤«¤é¤Î·ì±ÕήÆþ¤òÄ褹¤ë¿´Â¡ÊÛËì¾É¡£¤³¤Î·ë²Ì¡¢Ç٤ؤηì±ÕήÎ̤¬¸º¾¯¤¹¤ë¡£ | unknown | * |
694 |
Van den Ende-Gupta syndrome ¥ô¥¡¥ó¡¦¥Ç¥ó¡¦¥¨¥ó¥Ç¡¦¥°¥×¥¿¾É¸õ·² |
²¼³Ü¤ä»Í»è¤Î²á¹ü¡¢¹ü²á¾ê |
Gene: SCARF2 ¥Ò¥È¤ÎCaffeyÉ¡ÊÍÄ»ùÀ¹üÈé¼Á¹ü²á¾ê¾É¡Ë¤ËÎà»÷¡¢»²¹Í¡§ Raine¾É¸õ·²¡ÊÃ×»àÀ¹ü¹Å²½À¹ü°Û·ÁÀ®¡Ë |
unknown | ¥ï¥¤¥¢¥Õ¥©¥Ã¥¯¥¹ |
695 |
Various disorders ¿Íͤʼ«Î§¿À·Ð¾ã³² |
* | * | unknown | * |
696 |
Vasculopathy Ì®´É¾ã³² |
* | Ì®´É¤È¤ÏÆ°Ì®¡¦ÀÅÌ®¡¦ÌÓºÙ·ì´É¤Î·ì´É¤È¡¢Æý¤Ó´É¡¦¥ê¥ó¥ÑÌӺٴɤΥê¥ó¥Ñ´É¤ÎÁí¾Î¡£ | unknown | * |
697 |
Ventricular arrhythmias and sudden death *¿´¼¼ÀÉÔÀ°Ì®¤Ë¤è¤ëÆÍÁ³»à |
* | * | unknown | * |
698 |
Ventricular septal defect ¿´¼¼Ãæ³Ö·ç»¾É¡¢VSD |
¿´Â¡¼ý½Ì´ü¤Ë¿´»¨²»¡¢¹¦¤ÎÂ礤µ¤ä¾õÂ֤ˤè¤Ã¤Æ̵¾É¾õ¤«¤é¿´ÉÔÁ´¤Þ¤Ç | º¸±¦¤Î¿´¼¼¤Î´Ö¤Ë¤¢¤ëÃæ³Ö¤¬1²Õ½ê¤Þ¤¿¤ÏÊ£¿ô³«¸ý¤·¤Æ¤¤¤ëÀèŷŪ¤Ê¿´Â¡´ñ·Á¡£¤Û¤«¤Î¿´·ì´É´ñ·Á¤Ë¹çÊ»¤¹¤ë¤³¤È¤â¿¤¤¡£³«¸ýÉô¤¬¾®¤µ¤¤¤ÈÇØ°ìÍͤȤȤâ¤ËÊĺ¿¤¹¤ë¤³¤È¤â¤¢¤ë¤¬Ä̾ï¤Ï·ç»¹¦¤òÄ̤·¤Æ¥·¥ã¥ó¥È¤«°ú¤µ¯¤³¤µ¤ì¤ë¤¿¤á·ì±Õ½Û´Ä¤Î°Û¾ï¤¬À¸¤¸¤ë | unknown | * |
699 |
Vitamin D-deficiency rickets, type I ¥Ó¥¿¥ß¥óD°Í¸À¤¯¤ëɵ·¿ |
ÍÄÎð´ü¤ÎÄ㥫¥ë¥·¥¦¥à·ì¾É¡¢¹ü¤Î¤¯¤ëÉÂÀÊѲ½ | ¥Ó¥¿¥ß¥óD¤ò³èÀ²½¤¹¤ë¹ÚÁǤΰ۾³èÀ·¿¥Ó¥¿¥ß¥óD¤¬»ºÀ¸¤µ¤ì¤Ê¤¤¤¿¤á¤Ëµ¯¤³¤ë¡£¤¯¤ëɤȤϹü´ð¼Á¤ÎÀг¥²½ÉÔÁ´¤Ë¤è¤Ã¤Æ¤ª¤³¤ëÉÂÂÖ¤ÎÁí¾Î¤Ç¹üÊÑ·Á¤ÈÀ®Ä¹¾ã³²¤ò¼çħ¤È¤¹¤ë¡£¼£ÎŤϳèÀ·¿¥Ó¥¿¥ß¥óDÀ½ºÞ¤ÎÅêÍ¿ | unknown | * |
700 |
Vitamin D-deficiency rickets, type II ¥Ó¥¿¥ß¥óD°Í¸À¤¯¤ëɶ·¿ |
Ʊ¾å |
Genes: VDR ¥Ó¥¿¥ß¥óD¼õÍÆÂΤΰ۾¤ª¤â¤ËƬÉô¤ËæÌÓ¤¬¸«¤é¤ì¤ë¡£¼£ÎŤϺ¤Æñ |
AR | * |