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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
*¿ÕÀ­Ç¹Ë¦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¡ÉÂ
¿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礭¤¤ Gene: PTGS2
ÈçÇ¢´ï¤ÏÂÛÀ¸³ØŪ¤ËÊ£»¨¤Êȯ°é¤ò¤¹¤ë¤¿¤á¾¤Î´ï´±¤ËÈæ¤Ù¤Æ¿Õ¡¤ÎÀèÅ·´ñ·Á¤Ï¿¤¤¡£(ÀèÅ·À­Ã±°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»àÂоÝ
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
À­Ê¬²½¾ã³²
ÉÔÇ¥¡¢À¸¿£´ï(ÀºÁã?)¼ðáç ¥À¥Ö¥ë¥¨¥Ã¥¯¥¹¤Î¥ª¥¹¡¢¥ª¥¹¤ÎÀ¸¿£´ï¤ò»ý¤Ä¥á¥¹¡¢»ÒµÜ¤ÈÀºÁã¤òξÊýÍ­¤¹¤ë¤Ê¤É¡£±¢·Ô¾õ¹½Â¤¤òÍ­¤¹¤ë¾ì¹ç¤Ë¤Ï¤·¤Ð¤·¤ÐǢϩ³«¸ýÉô¤¬Àèü¤ËÇÛÃÖ¤µ¤ì¤Æ¤¤¤Ê¤¤ unknown *
637 Sex reversal: XY female, SRY-positive
À­Ê¬²½¾ã³²¡¡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礭¤Ê°Û¾ï¤¬¸«¤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礭¤Ê¶õƶ¤¬¤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®ÈÄ̵ÎϾÉ
¤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®ÈľÉ
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¿£)
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unknown *
678 Thrombocytopenic purpura, autoimmune
¼«¸ÊÌȱÖÀ­·ì¾®Èĸº¾¯À­»çÈÃÉÂ
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»çÈÃÉÂ
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¤òÍ­¤¹¤ëÀ¸Íý³èÀ­Êª¼Á¤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¡¨¸¤¤ÈÇ­¤Î²ò˶¥»¥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¡¼ÉÂ
XR *
687 Tricuspid valve dysplasia
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688 Upper airway syndrome
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689 Urolith, cystine
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690 Urolith, KMgP
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691 Urolith, urate
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692 Urolithiasis
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unknown *
693 Valvular pulmonic stenosis
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694 Van den Ende-Gupta syndrome
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²¼³Ü¤ä»Í»è¤Î²á¹ü¡¢¹ü²á¾ê Gene: SCARF2
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695 Various disorders
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696 Vasculopathy
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697 Ventricular arrhythmias and sudden death
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698 Ventricular septal defect
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699 Vitamin D-deficiency rickets, type I
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700 Vitamin D-deficiency rickets, type II
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