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"glycogen storage disease type II"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
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¿µ¹® congenital heart disease ÇÑ±Û ¼±Ãµ½ÉÀ庴
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¿µ¹® venereal disease, sexually transmitted diseases ÇÑ±Û ¼ºº´
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  º¸ÆíÀûÀ¸·Î ¼º±³ ¶Ç´Â ¼º±âÁ¢ÃË¿¡ ÀÇÇØ °É¸®´Â Á¢ÃË Àü¿°º´À¸·Î ¸Åµ¶, ÀÓÁú, ¹«¸¥±Ë¾ç, »ô±¼À°¾ÆÁ¾ µîÀ» ¸»ÇÑ´Ù. Ä¡·á´Â ¿øÀαտ¡ µû¸¥ ÀûÀýÇÑ Ç×»ý¿ä¹ýÀÌ´Ù.
¿µ¹® VDRL(venereal disease research laboratory) ÇÑ±Û ¼ºº´ ¿¬±¸½ÇÇè½Ç
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  ¸Åµ¶±ÕÀÇ reagin¿¡ ´ëÇÑ Ç×ü. ¸Åµ¶ÀÇ ¼±º°°Ë»ç·Î »ç¿ëµÇ¸ç ¸Åµ¶ Ä¡·á¿¡ ´ëÇÑ ¹ÝÀÀ ¿©ºÎ¿Í Ä¡·áÈ¿°ú ÆÇÁ¤¿¡µµ »ç¿ëµÈ´Ù. ¸Åµ¶¿Ü¿¡µµ Àü½Å¼ºÈ«¹Ý¼º³¶Ã¢, ·ù¸¶Æ¼½º°üÀý¿° µî¿¡¼­µµ ¾ç¼ºÀ¸·Î ³ªÅ¸³¯ ¼ö ÀÖ´Ù.
¿µ¹® hemolytic disease of newborn ÇÑ±Û ½Å»ý¾Æ¿ëÇ÷º´
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  ½Å»ý¾Æ¿¡¼­ ÀûÇ÷±¸°¡ ºñÁ¤»óÀûÀ¸·Î ¸¹ÀÌ ÆÄ±«µÇ´Â º´À¸·Î Å¾ÆÀû¸ð±¸Áõ(erythroblastosis fetalis)¿Í °°Àº ¶æÀ¸·Î ¾²ÀδÙ. À̰ÍÀº ¾î¸Ó´Ï¿¡°Ô¼­ »ý»êµÈ ½Å»ý¾Æ³ª Å¾ÆÀÇ ÀûÇ÷±¸¿¡ ´ëÇÑ Ç×ü°¡ Å¹ÝÀ» °Ç³Ê¿Í¼­ Å¾ÆÀÇ ÀûÇ÷±¸¿Í °áÇÕÇÏ¿©¼­ »ý±â´Â ¿ëÇ÷¼ººóÇ÷À» À̸£´Â ¸». ÁŻý¾Æ³ª Å¾ÆÀÇ ÀûÇ÷±¸ÀÇ Ç×ü°¡ ¾î¸Ó´ÏÀÇ ¸ö¿¡¼­ »ý»êÀÌ µÇ°í À̰ÍÀ̠ŹÝÀ» ÅëÇØ¼­ Å¾ƿ¡°Ô ³Ñ¾î°¡¼­ Å¾ÆÀÇ ÀûÇ÷±¸¿Í °áÇÕÀ» Çϰí ÀÌ Ç×ü¿Í °áÇÕÇÑ ÀûÇ÷±¸´Â ÆÄ±«°¡ µÇ¾î¼­ ºóÇ÷ÀÌ »ý±ä °ÍÀ» Å¾ÆÀû¸ð±¸ÁõÀ̶ó°í ÇÑ´Ù. À̰ÍÀº Rh Àû¸ð±¸Áõ(Rh erythroblastosis)¿Í ABO Àû¸ð±¸Áõ(ABO erythroblastosis)·Î ³ª´­ ¼ö°¡ ÀÖ´Ù.
¿µ¹® coronary artery disease ÇÑ±Û ½ÉÀ嵿¸Æº´
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  ½ÉÀ嵿¸ÆÀ̶õ ½ÉÀå¿¡ Ç÷¾×À» °ø±ÞÇϴ µ¿¸ÆÀ» ¸»ÇÑ´Ù. ½ÉÀåµµ ´Ù¸¥ ±ÙÀ°°ú ¸¶Âù°¡Áö·Î Ç÷¾×À» °ø±Þ¹Þ¾Æ¾ß ¼öÃàÀ» ÇÒ ¼ö°¡ Àִ ±â°üÀ¸·Î ½ÉÀåÀÇ Ç÷¾×À» °ø±ÞÇϴ µ¿¸ÆÀ» ½ÉÀ嵿¸ÆÀ̶ó°í ÇÑ´Ù. ½ÉÀ嵿¸Æº´À̶õ ½ÉÀ嵿¸ÆÀÇ ³»°æÀÌ Á¼¾ÆÁ®¼­ »ý±â´Â ÁúȯÀ¸·Î ÇãÇ÷½ÉÀ庴(ischemic heart disease)À̶ó°íµµ ºÒ¸°´Ù. °ü»óµ¿¸ÆÀÌ Á¼¾ÆÁú °æ¿ì¿¡´Â ½ÉÀåÀ¸·Î °¡´Â Ç÷¾×ÀÇ ¾çÀÌ Àû¾îÁ®¼­ ½ÉÀå¿¡ ÃæºÐÇÑ Ç÷¾×ÀÌ °ø±ÞÀÌ µÇÁö ¸øÇϹǷΠ¿©·¯ °¡Áö º´ÀûÀΠÇö»óÀÌ »ý±ä´Ù. ½ÉÀ嵿¸ÆÀÌ Á¼¾ÆÁö´Â µ¥¿¡´Â ¿©·¯ °¡Áö ¿øÀÎÀÌ ÀÖÀ» ¼ö°¡ ÀÖÀ¸³ª ÁַΠ½ÉÀ嵿¸ÆÀÇ µ¿¸Æ°æÈ­Áõ¿¡ ÀÇÇÑ´Ù. µ¿¸Æ°æÈ­ÁõÀ̶õ µ¿¸ÆÀÇ ³»Ãþ¿¡ Áö¹æ°ú ÄÝ·¹½ºÅ׷ѷΠÀÌ·ç¾îÁø Á×Á¾(atheroma)°¡ »ý±â´Â ÁúȯÀ¸·Î Á×Á¾ÀÌ »ý±ä µ¿¸ÆÀº Á×Á¾ÀÌ Ç÷°üÀÇ ³»ºÎ·Î µ¹ÃâÇϰԠµÇ¾î¼­ Ç÷°üÀÇ ³»°æÀÌ ÀÛ¾ÆÁö°Ô µÈ´Ù.
  
  ½ÉÀ嵿¸Æº´Àº ±× Á¤µµ¿¡ µû¶ó¼­ Çù½ÉÁõ(angina pectoris)¿Í ½É±Ù°æ»öÁõ(myocardial infarction)À¸·Î ³ª´«´Ù. Çù½ÉÁõÀº ½ÉÀ嵿¸ÆÀÇ ºÎºÐÀû Æó¼â¿¡ ÀÇÇØ¼­ Æò»ó½Ã¿¡´Â Áõ»óÀÌ ¾øÁö¸¸ ½ÉÀåÀÌ ¸¹Àº È°µ¿À» ÇÒ °æ¿ì¿¡ ½ÉÀå¿¡ Çǰ¡ ÃæºÐÇÑ ¸¸Å­ °ø±ÞÀÌ µÇÁö ¾Ê¾Æ¼­ »ý±â´Â Áúº´À¸·Î Æò»ó½Ã¿¡ ½¯ °æ¿ì¿¡´Â ¾Æ¹« Áõ»óÀÌ ¾øÁö¸¸ ¿îµ¿À̳ª °ú½Ä µîÀÇ ¿øÀÎÀ¸·Î ½ÉÀåÀÌ ¸¹Àº ¿îµ¿À» ÇÒ °æ¿ì¿¡ ½ÉÀå¿¡ °ø±ÞµÇ´Â Ç÷¾×ÀÇ ¾çÀÌ ¸ðÀÚ¶ó¼­ Áõ»ó(´ë°³ °¡½¿ºÎÀ§¿¡ Áã¾îÂ¥´Â µíÇÑ ÅëÁõ)ÀÌ »ý±ä´Ù. ½É±Ù°æ»öÁõÀ̶õ ½ÉÀ嵿¸ÆÀÇ ¿ÏÀüÆó¼â¿¡ ÀÇÇØ¼­ ½ÉÀåÀÇ ±ÙÀ°ÀÌ Ç÷¾×À» ÀüÇô °ø±Þ¹ÞÁö ¸øÇؼ­ ½ÉÀåÀÇ ±ÙÀ°ÀÌ ½â´Â °æ¿ì¸¦ ¸»ÇÑ´Ù.
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  • ¿µ¹®
    ÇѱÛ
  • hyperlipidemia type IV
    4Çü°íÁöÇ÷Áõ
  • hyperlipidemia type V
    5Çü°íÁöÇ÷Áõ
  • hypertrophic type
    ºñ´ëÇü
  • hebephrenic type schizophrenia
    ÆÄ°úÇüÁ¤½ÅºÐ¿­º´
  • hemispheric type
    ¹Ý±¸Çü
  • hemochorial type
    À¶Ç÷¸ðÇü
  • introversion type
    ³»ÇâÇü
  • intuitive type
    Á÷°üÇü
  • linear type constitution
    ¼±ÇüüÇü
  • mating type
    ±³¹èÇü
  • meromyarian type
    ºÎºÐ±ÙÀ°Çü
  • nomenclatural type
    ºÐ·ùÇÐÀû±âÁظí
  • organic reaction type
    ±âÁú¹ÝÀÀÇü
  • ovulatory type
    ¹è¶õÇü
  • polymyarian type
    ´Ù±ÙÀ°Çü
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
  • inflammatory bowel disease
    ¿°ÁõâÀÚÁúȯ
  • inherited disease
    À¯Àüº´
  • Legg-Calve-Perthes disease
    (¢¡ostetochondrosis of the capitualar epiphysis of th) ·¹±×Ä®º£Æä¸£Å×½ºº´, ³Ò´Ù¸®»À¸Ó¸®»À³¡»À¿¬°ñÁõ
  • life style disease
    »ýȰ½À°üº´
  • metabolic disease
    ´ë»çº´, ´ë»çÁúȯ
  • mixed connective tissue disease
    È¥ÇÕ°áÇÕÁ¶Á÷º´
  • moyamoya disease
    ¸ð¾ß¸ð¾ßº´
  • muscle disease
    ±ÙÀ°º´
  • Osgood-Schlatter disease
    (¢¡ osteochondrosis of the tuberosity of the tibia) ¿À½º±Â½¶¶óÅͺ´, Á¤°­»À°ÅÄ£¸é»À¿¬°ñÁõ
  • Paget's disease
    ÆÄÁ¦Æ®º´
  • Parkinson's disease
    ÆÄŲ½¼º´
  • pelvic inflammatory disease
    °ñ¹Ý³»°¨¿°
  • pneumatic hammer disease
    ¾ÐÂø°ø±âÇØ¸ÓÁõ
  • primary cholestatic liver disease
    ÀÏÂ÷¾µ°³ÁóÁ¤Ã¼°£Áúȯ, ÀÏÂ÷´ãÁóÁ¤Ã¼°£Áúȯ
  • professional disease
    Á÷¾÷º´
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
  • type culture
    Ç¥ÁرÕÁ¾
  • type culture collection
    Ç¥ÁرÕÁÖ¼ö·Ï
  • delayed-type hypersensitivity
    Áö¿¬°ú¹Î
  • disorganized type schizophrenia
    ºØ±«Á¤½ÅºÐ¿­º´
  • dromedary type
    ´ÜºÀÇü
  • dysplastic type
    Çü¼ºÀÌ»óÇü
  • expansive type
    °ú´ëÇü
  • extroverted type
    ¿ÜÇâÇü
  • extroverted feeling type
    ¿ÜÇâÀû°¨Á¤Çü
  • Golgi type I neuron
    ±äÃà»è½Å°æ¼¼Æ÷
  • Golgi type II neuron
    ªÀºÃà»è½Å°æ¼¼Æ÷
  • hebephrenic type schizophrenia
    ÆÄ°úÁ¤½ÅºÐ¿­º´
  • hemispheric type
    ¹Ý±¸Çü
  • hemochorial type
    À¶Ç÷¸ðÇü
  • holomyarian type
    ¿ÏÀü±ÙÀ°Çü
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
  • Lutheran s type
    ·çÅ×¶õÇü.
  • Mobitz type I SA block
    ¸ðºñÃ÷ ¥°Çü µ¿¹æÂ÷´Ü.
  • Mobitz type II AV block
    ¸ðºñÃ÷ ¥±Çü ¹æ½ÇÂ÷´Ü.
  • Mobitz type II SA block
    ¸ðºñÃ÷ ¥±Çü µ¿¹æÂ÷´Ü.
  • Ogawa type
    ¿À°¡¿ÍÇü
  • RF coil type
    °íÁÖÆÄ ÄÚÀÏ À¯Çü
  • T-type channel
    T-Çü Åë·Î
  • aberrant type
    ÀÌÇü(ì¶úþ)
  • abortive type
    ºÎÀüÇü(ÝÕîïúþ).
  • acute fulminating type
    ±Þ¼º Àü°ÝÇü.
  • agammaglobulinemia,x-linked, bruton type
    ¼º¿°»öü ¿¬°ü¼º, ºê·çÅæÇü(àõæøßäô÷ æáμàõ, ¡­úþ)
  • anovulatory type
    ¹«¹è¶õÇü
  • glomus type of arteriovenous anastomosis
    Å丮Çüµ¿Á¤¸Æ¿¬°á
  • golgi type i neuron
    ±äÃà»è½Å°æ¼¼Æ÷
  • golgi type ii neuron
    ªÀºÃà»è½Å°æ¼¼Æ÷
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
  • image storage
    ¿µ»óÀúÀå<--ÃàÀû
  • lysosomal storage diseaes
    ¸®¼Ò¼Ø¼º ÃàÀûº´(¡­ õëîÝÜ»)
  • stock organism storage
    º¸Á¸¼¼±ÕÀúÀå
  • storage
    ÃàÀû, º¸Á¸(ÜÁðí), ÀúÀå(îÍíú).
  • storage battery
    ÃàÀüÁö(õëï³ò®).
  • storage iron
    ˜ˌ̦
  • storage oscilloscope
    ÀúÀå½Ä ¿À½Ç·Î½ºÄÚÇÁ
  • storage oscilloscope
    ÀúÀå½Ä (îÍíúãÒ) ¿À½Ç·Î½ºÄÚÇÁ
  • storage pool
    ÀúÀåǪ¿ï.
  • storage tube
    ÀúÀå °ü
  • storage tube ; memory tube
    ÃàÀûÇü(ºê¶ó¿î)°ü.
  • virtual storage
    °¡»ó ±â¾ï ÀåÄ¡
  • blood disease =hemic disease
    Ç÷¾×Áúȯ(Ì´Ëâ̷̤).
  • blood disease =hemic disease
    Ç÷¾×Áúȯ(úìäûòðü´).
  • aberrant type
    ÀÌÇü(ì¶úþ)
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
  • type II immunoglobulin
    IIÇü(úþ) ¸é¿ª(Øóæ¹)±Û·ÎºÒ¸°
  • type K immunoglobulin
    KÇü(úþ) ¸é¿ª(Øóæ¹) ±Û·ÎºÒ¸°
  • type L immunoglobulin
    LÇü(úþ) ¸é¿ª(Øóæ¹)±Û·ÎºÒ¸°
  • type-specific antigen
    ÇüƯÀÌ Ç׿ø(úþ÷åì¶ù÷ê«)
  • Watson-Crick-type DNA
    ¿Ó½¼-Å©¸¯Çü(úþ) DNA
  • wild-type
    ¾ß»ýÇü(å¯ßæúþ)
  • wild-type allele
    ¾ß»ýÇü(å¯ßæúþ) ´ë¸³(Óߨ¡)À¯ÀüÀÚ(ë¶îîí­)
  • wild-type gene
    ¾ß»ýÇü(å¯ßæúþ) À¯ÀüÀÚ(ë¶îîí­)
  • Addison's disease
    ¿¡µð¼Õ º´(Ü»)
  • alkali disease
    ¾ËÄ®¸®¼ºÁúȯ(òðü´)
  • allogeneic disease
    µ¿Á¾ÀÌÀÎÀÚÇü Áúȯ(ÔÒðúì¶ì×í­úþ òðü´)
  • Alzheimer disease
    ¾ËÁîÇÏÀÌ¸Ó º´(Ü»)
  • Andersen's disease
    ¾Èµ¥¸£¼¾º´(Ü»)
  • autoallergic disease
    ÀÚ°¡(í»Ê«)¾Ë·¹¸£±â Áúȯ(òðü´)
  • autoimmune disease
    ÀÚ°¡¸é¿ªÁúȯ (í»Ê«Øóæ¹òðü´)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
  • degenerative joint disease
    ÅðÇ༺°üÀýÁúȯ
  • demyelinating disease
    Å»¼öÃʼºÁúȯ
  • disease
    º´, Áúº´, Áúȯ
  • endemic disease
    Áö¹æº´, dzÅ亴
  • endocrine disease
    ³»ºÐºñÁúȯ
  • focal disease
    ÃÊÁ¡¼ºÁúȯ
  • granulomatous disease
    À°¾ÆÁ¾¼ºÁúȯ
  • Hand-Schueller-Christian disease
    ÇÚµå-½¯·¯-Å©¸®½ºÂùº´
  • Hashimoto's disease
    ÇϽøðÅ亴
  • hematopoietic disease
    Á¶Ç÷¼ºÁúȯ
  • hereditary disease
    À¯Àüº´
  • Hodgkin's disease
    È£ÁîŲº´
  • hyaline membrane disease
    À¯¸®Áú¸·º´
  • hypertensive vascular disease
    °íÇ÷¾Ð¼ºÇ÷°üÁúȯ
  • inherited disease
    À¯Àüº´
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 3
PD Doctor of Pharmacy; Dublin Pharmacopoeia; interpupillary distance; Paget disease; pancreatic duct; p...
RD radial deviation; radiology department; rate difference; Raynaud disease; reaction of degeneration; ...
ALL Acute Lymphocytic Leukemia
  ÇüÅÂÇÐÀû ºÐ·ù
    L1; Small, Homogenous(...
MEN Multiple Endocrine Neoplasia
  ; AD Trait
  1. MEN Type I(= Wermer Syndro...
CHD Chediak-Higashi disease; childhood disease; chronic hemodialysis; congenital or congestive heart dis...
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 3
SPD storage pool deficiency
GSK-3 beta I)/glycogen synthase kinase-3 beta
Gly Glycogen
GP Glycogen Phosphorylase
GSK3 Glycogen Synthase Kinase 3
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • hutchinson-type neuroblastoma
    ÇãÄ£½¼Çü ½Å°æ¸ð¼¼Æ÷Á¾
  • hypocalcified type
    ¼®È¸È­ ºÎÀüÇü
  • immediate-type
    Áï½ÃÇü
  • intracanalicular type
    ¼Ò°ü³» Çü
  • iris-type
    ȫä ¸ð¾ç
  • Jaeger's test type
    ¿¹°Å ¹®ÀÚ
    ½Ã·Â °Ë»ç¿¡ »ç¿ëµÇ´Â ´ë¼ÒÀÇ ¹®ÀÚ¸¦ ´Ã¾î³õÀº Ç¥.
  • jealous type
    ÁúÅõÇü
  • knife edge type
    ³ªÀÌÇÁ ¿¡Âî ŸÀÔ
    finishing lineÀÇ ÀÏÁ¾ÀÌ´Ù.
  • lepromatous type
    ³ªÁ¾Çü
  • localized type
    ±¹¼ÒÇü
  • major type
    ÁÖµÈ ÇüÅÂ
  • membrane type
    ¸·Çü
  • mesial step type
    ±Ù½É °è´ÜÇü
  • mobile type diagnostic X ray apparatus
    À̵¿Çü Áø´Ü X¼± ÀåÄ¡
  • monocytic type
    ´ÜÇÙ±¸Çü
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
storage protein deamidase <enzyme> Deamidates glutaminyl residues; isolated from germinating wheat grains
Registry number: EC 3.5.1.-
Synonym: seed storage protein deamidase
(26 Jun 1999)
information storage and retrieval A branch of computer or library science relating to the storage, locating, searching, and selecting, upon demand, relevant data on a given subject.
(12 Dec 1998)
iron-storage protein <chemical> Soluble iron storage protein from e coli; different from ferritin and haemosiderin
(05 Dec 1998)
optical storage devices A computer disk read by a laser beam, containing data prerecorded by a vendor. The buyer cannot enter or modify data in any way but the advantages lie in the speed of accessibility, relative immunity to damage, and relatively low cost of purchase.
(12 Dec 1998)
lead storage battery <chemistry> A battery (used in cars) in which the anode is lead, the cathode is lead coated with lead dioxide, and the electrolyte is a sulfuric acid solution.
(09 Jan 1998)
lipid storage diseases A series of disorders due to inborn errors in lipid metabolism resulting in the abnormal accumulation of lipids in the wrong places (examples include gaucher, fabry and niemann-pick diseases and metachromatic leukodystrophy).
(12 Dec 1998)
lysosomal storage diseases Inborn errors of metabolism characterised by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolised substrates.
(12 Dec 1998)
gaucher's disease, type 1 A progressive genetic disease caused by a defect in an enzyme. The enzyme, called glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect in persons with Gaucher's disease (GD) leads to the accumulation of glucocerebroside in the spleen, liver, and lymph nodes. The most common early sign is enlargement of the spleen (located in the upper left abdomen). Other signs include low red blood cell counts (anaemia), a decrease in blood clotting cells (platelets), increased pigmentation of the skin, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. The GD gene is on chromosome 1. The disease is a recessive trait. Both parents carry a GD gene and transmit it for their child with the disease. The parents' risk of a child with the disease is 1 in 4 with each pregnancy. This type of Gaucher's disease (noncerebral juvenile Gaucher's disease) is most common in Ashkenazi Jews (of European origin) and is the most common genetic disease among Jews in the United States.
(12 Dec 1998)
Recklinghausen's disease type I type 2 neurofibromatosis
central Recklinghausen's disease type II type 1 neurofibromatosis
disease, gaucher's type 1 A progressive genetic disease caused by a defect in an enzyme. The enzyme, called glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect in persons with Gaucher's disease (GD) leads to the accumulation of glucocerebroside in the spleen, liver, and lymph nodes. The most common early sign is enlargement of the spleen (located in the upper left abdomen). Other signs include low red blood cell counts (anaemia), a decrease in blood clotting cells (platelets), increased pigmentation of the skin, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. The GD gene is on chromosome 1. The disease is a recessive trait. Both parents carry a GD gene and transmit it for their child with the disease. The parents' risk of a child with the disease is 1 in 4 with each pregnancy. This type of Gaucher's disease (noncerebral juvenile Gaucher's disease) is most common in Ashkenazi Jews (of European origin) and is the most common genetic disease among Jews in the United States.
(12 Dec 1998)
acrocephalosyndactyly type 1 <paediatrics> An inherited disease (autosomal dominant) or a spontaneously occurring disease characterised by a peaked head and unusual facial appearance, due to the premature closure of the cranial sutures.
A skull X-ray can confirm the diagnosis and treatment is surgical.
Inheritance: autosomal dominant.
(27 Sep 1997)
Alzheimer type I astrocyte Enlarged frequently multinucleated astrocytes, seen in progressive multifocal leukoencephalopathy.
(05 Mar 2000)
Alzheimer type II astrocyte Enlarged astrocytes with vesicular nuclei and one or more small basophilic nucleoli, seen in hepatocerebral disease and Wilson's disease.
(05 Mar 2000)
American Type Culture Collection <cell culture> A key resource for cultured cells, located in Rockville, USA.
(12 Dec 1998)
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