¼ºÇü¿Ü°ú Ä¡°ú ¾È°ú ¿©¼ºº´¿ø ³»°ú Á¤Çü¿Ü°ú ÇǺΰú ¼Ò¾Æ°ú À̺ñÀÎÈÄ°ú Ä¡Áú ¿ä¾çº´¿ø ÀçÈ°ÀÇÇаú µ¿¹°º´¿ø ¹é³»Àå Æó·Åºñ½Çºñ½Ç ºñÀü°øÀ¯ÇÏ°í ºñƲÁîÀÇ »çȸº¹±ÍȯÀÚ »ì·È´Ù
ÄÚÃ÷º´(Coats disease)
ÁúȯÁÖ¿äÁ¤º¸ °ü·ÃÁúȯ¸í : »ïÃ⼺ ¸Á¸·º´Áõ(Exudative retinopathy), ¸Á¸· ¸ð¼¼Ç÷°üÈ®ÀåÁõ(Retinal telangiectasis) ¿µÇâºÎÀ§ : ü¿ÜÀÇ ´«
Ãßõ¼ö : 0 , Á¶È¸¼ö : 2,800 , ´ñ±Û¼ö : 0
°í½¦º´(Gaucher disease)
ÁúȯÁÖ¿äÁ¤º¸ °ü·ÃÁúȯ¸í : °í¼¼ º´ ¶Ç´Â °í¼Å º´ Á¦1Çü ½ºÇΰíÁöÁúÁõ,±Û·çÄÚ¼¼·¹ºê·Î½Ãµ¥À̽º °áÇÌÁõ,±Û·çÄڽǼ¼¶ó¸¶À̵¥À̽º °áÇÌÁõ,¼¼·¹ºê·Î½Ãµå¼º ÁöÁúÁõ ÁõÈıº,°í¼Å ºñÀåºñ´ë,±Û
Ãßõ¼ö : 0 , Á¶È¸¼ö : 1,894 , ´ñ±Û¼ö : 0
½Å ÀÌÇü¼ºÁõ(Obstructive cystic disease)
°ü·ÃÁúȯ¸í : Á¦ 2Çü ³¶¼º ½ÅÁúȯ (Renal Cystic Disease Type 2) ´Ù³¶¼º ½Å ÀÌÇü¼ºÁõ (Multicystic renal dysplasia) Á¦ 4
Ãßõ¼ö : 0 , Á¶È¸¼ö : 1,537 , ´ñ±Û¼ö : 0
³ë¸®º´(Norrie disease)
°ü·ÃÁúȯ¸í : ¾Èº¯ µÎ°æºÎ ±Ù±äÀåÀÌ»ó (Cranio-cervical dystonia) Ư¹ß¼º ±¸°-¾È¸é ±Ù±äÀåÀÌ»ó (Idiopathic oro-facial dystonia
Ãßõ¼ö : 0 , Á¶È¸¼ö : 1,791 , ´ñ±Û¼ö : 0
Àª½¼º´(Wilson disease)
¥°.°³¿ä Àª½¼º´(Wilson's disease ¶Ç´Â hepatolenticular degeneration)Àº ±¸¸®´ë»çÀÇ ÀÌ»óÀ¸·Î ÀÎÇØ ÁÖ·Î °£°ú ³úÀÇ ±âÀúÇÙ¿¡ °ú´ÙÇÑ ¾çÀÇ ±¸¸®
Ãßõ¼ö : 0 , Á¶È¸¼ö : 1,770 , ´ñ±Û¼ö : 0
¿ù¸¸º´(Wolman disease)
ÁúȯÁÖ¿äÁ¤º¸ °ü·ÃÁúȯ¸í : Cholessteryl ester ÃàÀû Áúȯ ¿µÇâºÎÀ§ : ü³»-°£, ºñÀå Áõ»ó : °£ºñÁ¾´ë, ¼ºÀå ºÎÀü, Ç÷¾× ÀÀ°í Àå¾Ö ¿øÀÎ : lysos
Ãßõ¼ö : 0 , Á¶È¸¼ö : 762 , ´ñ±Û¼ö : 0
I-¼¼Æ÷º´(Æ÷ÇÔ¼¼Æ÷º´)(Inclusion Cell Disease)
ÁúȯÁÖ¿äÁ¤º¸ °ü·ÃÁúȯ¸í : Æ÷ÇÔ¼¼Æ÷º´(Inclusion Cell Disease), ·¹·ÎÀ̺´(Leroy Disease), ¹ÂÄÚ¸®ÇÇµå º´ IIÇü(ML Disorder, Tyle
Ãßõ¼ö : 0 , Á¶È¸¼ö : 1,176 , ´ñ±Û¼ö : 0
źÁö¿¡¸£º´(Tangier disease)
ÁúȯÁÖ¿äÁ¤º¸ °ü·ÃÁúȯ¸í : Á¦1Çü °í¹ÐµµÁö´Ü¹é°áÇÌÁõ(High density lipoprotein deficiency, tyle1), źÁö¿¡¸£Çü °í¹ÐµµÁö´Ü¹é°áÇÌÁõ(High
Ãßõ¼ö : 0 , Á¶È¸¼ö : 1,124 , ´ñ±Û¼ö : 0
Äɳ׵ðº´(Kennedy Disease)
¥°.°³¿ä Äɳ׵𠺴(±¸Ã´¼ö¸¶ºñ ±ÙÀ§ÃàÁõ)Àº ¿îµ¿½Å°æ°ú °¨°¢½Å°æÀÇ ÅðÇ༺ º¯¼ºÀ» º¸ÀÌ´Â ÁúȯÀ¸·Î, ÇϺΠ¿îµ¿½Å°æ¼¼Æ÷ÀÇ ÅðÇàÀ¸·Î ÀÎÇØ ±ÙÀ§ºÎ ±ÙÀ°ÀÇ ±Ù·Â¾àÈ ¹× ±ÙÀ§ÃàÀ» ¾ß±âÇÏ°í
Ãßõ¼ö : 2 , Á¶È¸¼ö : 7,507 , ´ñ±Û¼ö : 0
ÇȺ´(Pick disease)
¥°.°³¿ä ÇȺ´(Pick's disease)Àº ºñ±³Àû µå¹® ½Å°æÅðÇ༺ ÁúȯÀ¸·Î¼ ³úÀÇ ½Å°æ¼¼Æ÷ÀÇ ÁøÇ༺ Æı«¸¦ º¸ÀÌ´Â ÁúȯÀÔ´Ï´Ù. º´¸®Á¶Á÷ÇÐÀûÀ¸·Î Áø´ÜµÈ Ä¡¸Å ȯÀÚ¿¡¼ 1~2%
Ãßõ¼ö : 0 , Á¶È¸¼ö : 2,140 , ´ñ±Û¼ö : 0
Æи®-·Ò¹ö±× ÁõÈıº(Parry-Romberg disease)
°ü·ÃÁúȯ¸í : ÁøÇ༺ ¹Ý¾ó±¼ À§Ãà(Progressive Hemifacial Atrophy : HFA), Æ丮-·Ò¹ö±× ÁõÈıº(PRS), ÁøÇ༺ ¾ó±¼¹Ý À§Ãà(Progressive
Ãßõ¼ö : 0 , Á¶È¸¼ö : 2,352 , ´ñ±Û¼ö : 0
µ¥Á¦¸°-¼ÒŸ½ºº´(Dejerine-Sottas disease )
°ü·ÃÁúȯ¸í : DEJERINE-SOTTAS SYNDROME; DSS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 3; CMT3, HEREDITARY MOTO
Ãßõ¼ö : 0 , Á¶È¸¼ö : 824 , ´ñ±Û¼ö : 0
·¹ÇÁ¼¶º´(Refsums disease)
°ü·ÃÁúȯ¸í : Refsums disease, classic, Phytanic acid oxidase deficiecy, Heredopathia atactica polyneur
Ãßõ¼ö : 0 , Á¶È¸¼ö : 1,398 , ´ñ±Û¼ö : 0
´Ù¹ß½Éº´(Multicore disease)
ÁúȯÁÖ¿äÁ¤º¸ °ü·ÃÁúȯ¸í : Multiminicore disease, Multimicore mtopathy, Minicore disease, Minicore myopathy
Ãßõ¼ö : 0 , Á¶È¸¼ö : 990 , ´ñ±Û¼ö : 0
ÀϽºº´(Eales disease)
¥°.°³¿ä ÀϽºº´Àº Henry Eales°¡ 1880³â ±â¼úÇÑ º´À¸·Î, ºñÃâÇ÷, º¯ºñ¸¦ µ¿¹ÝÇÑ ¹Ýº¹¼º À¯¸®Ã¼ÃâÇ÷À» Ư¡À¸·Î ÇÕ´Ï´Ù. Àεµ, Áßµ¿µî¿¡¼ °¡Àå ÈçÇÑ °ÍÀ¸·Î ¾Ë·ÁÁ® ÀÖ°í
Ãßõ¼ö : 0 , Á¶È¸¼ö : 1,664 , ´ñ±Û¼ö : 0
¸®ºê¸¸-»è½ºº´(Libman-Sacks disease)
¥°.°³¿ä ¸®ºê¸¸-»è½ºº´Àº Àü½ÅÈ«¹Ý·çǪ½º ȯÀÚ Áß ¾à 10%¿¡¼ ³ªÅ¸³ª´Â ½ÉÁúȯÀ¸·Î, ½ÉÀå ÆǸ·ÀÇ °æÈ, ÆǸ· ¿ª·ù ¹× ÆǸ·ÀÌ µÎ²¨¿öÁö´Â Çö»óÀ» º¸ÀÌ´Â º´ÀÔ´Ï´Ù. ¸¹Àº °æ¿ì °æ
Ãßõ¼ö : 0 , Á¶È¸¼ö : 1,413 , ´ñ±Û¼ö : 0
¿À½º±Â-½¶·¹ÅÍ(Osgood-Schlatter disease)
¥°.°³¿ä ¿À½º±Â-½¶·¹Åͺ´Àº ¿îµ¿½Ã ½½°³°ÇÀÇ °©ÀÛ½º·± ȤÀº Áö¼ÓÀûÀÎ °ßÀÎÀ¸·Î, Çô¸ð¾çÀÇ °æ°ñ °áÀý °ñ´ÜÀÌ ºÎºÐÀûÀ¸·Î ºÐ¸®µÈ °ÍÀ» ¸»ÇÏ¸ç ¼ºÀåÀÌ ¿Õ¼ºÇÑ Ã»¼Ò³â ½Ã±â¿¡ ºñ±³Àû ÈçÈ÷
Ãßõ¼ö : 0 , Á¶È¸¼ö : 2,416 , ´ñ±Û¼ö : 0
ÇÊ·¹º´(Pyles disease)
°ü·ÃÁúȯ¸í : °ñÁß°£Çü¼ºÀÌ»ó(metaphyseal dysplasia) ÇÊ·¹ÁõÈıº(Pyles syndrome) °¡Á·¼º °ñÁß°£Çü¼ºÀÌ»ó(Familial metaphyseal
Ãßõ¼ö : 0 , Á¶È¸¼ö : 642 , ´ñ±Û¼ö : 0
µð ±¸±Û¸®¿¤¸ð º´(Di Guglielmos disease)
¥°.°³¿ä ±Þ¼º Àû¹éÇ÷º´ (Acute erythroid leukemia)Àº ÀûÇ÷±¸°èÀÇ µÎµå·¯Áø Áõ½Ä(>50%)À¸·Î ÇÏ´Â ±Þ¼º °ñ¼ö¼º ¹éÇ÷º´ÀÇ ÇÑ ÇüÅ·ΠÀüü ±Þ¼º °ñ¼ö¼º ¹é
Ãßõ¼ö : 0 , Á¶È¸¼ö : 866 , ´ñ±Û¼ö : 0
±â²ÙÂ(Kikuchis disease)
¥°.°³¿ä ±â²ÙÂî º´Àº 1972³â ÀϺ»¿¡¼ ±â²ÙÂî¿Í ÈÄÁö¸ðÅä µî¿¡ ÀÇÇؼ óÀ½ º¸°íµÈ ÁúȯÀ¸·Î, µ¿¾ç¿¡¼ ÈçÇÏ°í ¼¾ç¿¡¼´Â µå¹°¸ç, ¿øÀÎÀ» ¾Ë ¼ö ¾øÁö¸¸ ½Ã°£ÀÌ Áö³ª¸é ´ëºÎºÐ Àú
Ãßõ¼ö : 1 , Á¶È¸¼ö : 4,627 , ´ñ±Û¼ö : 0