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301 Hernia, perineal
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302 Hernia, scrotal
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303 Hernia, umbilical
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304 Heterochromia
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305 Heterochromia iridis
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306 Hip dysplasia
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307 Histiocytosis, malignant
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308 Hodgkin disease
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309 Horner syndrome
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310 Hydranencephaly
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311 Hydrocephalus
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312 Hydrocephalus, internal
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313 Hydromelia
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314 Hydrops foetalis
ÂÛ»Ò¿å¼ð
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315 Hyperadrenocorticism
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½é´ü¤Ï¿©Íߤä°û¿åÎ̤äÇ¢Î̤ÎÁý²Ã¡¢Ê¢ÉôËÄËþ¡¢º¸±¦ÂоݤÇáڤߤΤʤ¤Ã¦ÌÓ¤Ê¤É ¥¯¥Ã¥·¥ó¥°¾É¸õ·²¡¢ÈéÉ濭ŸÀþ¾ò(¥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)
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316 Hyperbilirubinaemia, unclassified
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317 Hypercholesterolaemia
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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
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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
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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
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unknown G¥·¥§¥Ñ
321 Hyperhomocysteinemia
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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
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Æùµå¤Î³Ñ²½¤äµµÎö¡¢¤½¤ì¤Ë¤è¤ëÆ󼡴¶À÷ Gene: FAM83G
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324 Hyperkinesis
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325 Hyperlipidaemia
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326 Hyperlipoproteinaemia
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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¡£
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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¿¤¤À­Ê¬²½°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 À­Ê¬²½¾ã³²¤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¸±¦ÂоÎÀ­Ã¦ÌÓ¡¢¤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¤Ë¤è¤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¤Ç¥Û¥ë¥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±ê¾ÉÀ­Ä²¼À´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¤«¤éËýÀ­Åª¤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
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357 Improper coat
ÉÔŬÀڤʥ³¡¼¥È
Ì¿¤ËÊ̾ò¤¬½Ð¤ë¥±¡¼¥¹¤Ï̵¤µ¤½¤¦?? Genes: RSPO2
PW¥É¥Ã¥°¤Î´é¤È­¤Î½Ì¤ìÌÓ¤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
±ê¾ÉÀ­Ä²¼À´µ
ËýÀ­¤Î¾Ã²½´ï¾É¾õ ¾Ã²½´É¤Ë±ê¾É¤ò¤ª¤³¤¹ËýÀ­¼À´µ¤ÎÁí¾Î unknown ¿
361 Intersex
À­Ê¬²½¾ã³²
À­ÊÌÉÔÌÀ¡¢Î¾À­¶ñÍ­¡¢ÉÔÇ¥ ¿¿À­È¾±¢ÍÛ¤ÏξÀ­¤Îµ¡Ç½¤òÊ»¤»»ý¤Ä¡£²¾À­È¾±¢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
IJ½ÅÀѾÉ
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¥ÙÉÂ
´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¢ÃæÍ­µ¡»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
ËýÀ­Ã±µåÀ­Çò·ìÉÂ
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¤¤¤¦ÏÃ
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¡¡ÉÂ
»Í»è(»ØÀè)¡¦ÁÍ·ÂÉô¡¦´éÌÌ¡¦¸ý¹ÐÆâ¤Î¤Ó¤é¤óÀ­ÄÙáç¤ÈáÐÈé(áÐÈ餫¤Ò¤ÏÉÂÊѤÎÄìÉô¤ËͳÍ褹¤ëÞú½Ð±Õ¡¢¤«¤µ¤Ö¤¿)
¼«¸ÊÌȱÖÀ­É½Èé²¼¿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
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392 Lumbosacral junction, skeletal morphology and morphometry
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393 Lundehund syndrome
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394 Lymphoedema
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395 Lymphoma, generic
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396 Lymphoma, non-Hodgkin
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397 Lymphoproliferative disease
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398 Lysosomal storage disease
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399 Macular corneal dystrophy
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400 Malignant hyperthermia
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