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"Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
¾Ë±â½¬¿î ÀÇÇпë¾îÇ®ÀÌÁý, ¼­¿ïÀÇ´ë ±³¼ö ÁöÁ¦±Ù, °í·ÁÀÇÇÐ ÃâÆÇ À¯»ç °Ë»ö °á°ú : 3 ÆäÀÌÁö: 1
¿µ¹® recessive ÇÑ±Û ¿­¼º
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  ´ë¸³ÇüÁú Áß ÀâÁ¾ Á¦1´ë¿¡¼­ ¼û¾î¼­ ³ªÅ¸³ªÁö ¾Ê´Â ÇüÁú. ¿ì¼º¿¡ ´ëÀÀµÇ´Â ¸»ÀÌ´Ù. ³ªÅ¸³ª´Â ÂÊ¿¡ ´ëÇØ ¿­¼ºÀ̶ó Çϰí, ±× ÇüÁúÀ» ¿­¼ºÇüÁúÀ̶ó°í ÇÑ´Ù. Á¦2´ë(F2)¿¡¼­´Â ¿­¼ºÇüÁúÀº ºÐ¸®µÇ¾î 1/3ÀÇ ºñÀ²·Î ³ªÅ¸³­´Ù. À¯ÀüÀû ´ë¸³ÇüÁú¿¡´Â ¿ì¼º°ú ¿­¼ºÀÌ ÀÖ°í, À̰͵éÀº ¿ì¼ºÀ¯ÀüÀÚ¿Í ¿­¼ºÀ¯ÀüÀÚ¿¡ ÀÇÇØ Áö¹èµÈ´Ù. ¿¹¸¦ µé¸é, ¾î¶² ¿ì¼ºÇüÁúÀ» Áö¹èÇϴ À¯ÀüÀÚ¸¦ A¶ó Çϰí, ±×°Í¿¡ ´ëÀÀÇϴ ¿­¼ºÀ¯ÀüÀÚ¸¦ a¶ó°í Çϸé, ¿ì¼ºÀ¯ÀüÀÚ¸¦ °¡Áø ¾î¹öÀÌ(AA)¿Í ¿­¼ºÀ¯ÀüÀÚ¸¦ °¡Áø ¾î¹öÀÌ(aa)ÀÇ ±³¹è¿¡ ÀÇÇÏ¿© »ý±ä ÀâÁ¾ Á¦1´ë(F1)´Â Aa°¡ µÇ¾î ¿ì¼ºÇüÁúÀ» ³ªÅ¸³½´Ù. Aa À¯ÀüÀÚ¸¦ °¡Áø F1³¢¸®¸¦ ±³¹èÇϸé ÀâÁ¾ Á¦2´ë(F2)¿¡¼­´Â AA:Aa:aa°¡ 1:2:1ÀÇ ºñÀ²·Î ºÐ¸®µÇ¾î ¿­¼ºÇüÁúÀº F2´ë¿¡ 1/3ÀÇ ºñÀ²·Î »ý±ä´Ù. ¿ì¼º-¿­¼ºÀ̶õ ÇüÁúÀÇ °¡Ä¡ ¿ì¿­À» ¸»Çϴ °ÍÀÌ ¾Æ´Ï´Ù. ¿­¼ºÀÌ µÚ¶³¾îÁ³´Ù´Â ÀλóÀ» Áشٰí ÇÏ¿© ¿­¼ºÀ» ÀἺÀ¸·Î, ¿ì¼ºÀ» Çö¼ºÀ¸·Î ÇÏÀÚ°í ÁÖÀåÇϴ ÇÐÀÚµµ ÀÖ´Ù.
¿µ¹® fibrous dysplasia ÇÑ±Û ¼¶À¯Çü¼ºÀÌ»ó
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  ±¹¼Ò ¹ßÀ°Àå¾Ö·Î »ÀÀÇ ¸ðµç ¼ººÐÀÌ ³ªÅ¸³ª³ª ¼º¼÷ÇÑ ±¸Á¶·Î ºÐÈ­ÇÏÁö´Â ¸øÇϴ º´ÀÌ´Ù. ÀÓ»óÀ¸·Î ÇϳªÀÇ »À È¤Àº ¿©·¯°³ÀÇ »À¸¦ µ¿½Ã¿¡ Ä§¹üÇÒ ¼ö ÀÖ´Ù. ¿©·¯»À À¯ÇüÀº °¥»ö»ö¼Ò Ä§Âø°ú ³»ºÐºñ Àå¾Ö¸¦ µ¿¹ÝÇϸç Á¶¼÷ÇÑ ¼ºÀû ¹ßÀ°À» µ¿¹ÝÇÑ´Ù. À°¾È¼Ò°ßÀ¸·Î °æ°è°¡ ¶Ñ·ÇÇÑ º´ÅͷΠÁ¶Á÷¼Ò°ßÀ¸·Î´Â ¼¶À¯¸ð¼¼Æ÷ÀÇ Áõ½Ä°ú °î¼±»óÀÇ »ÀÀܱâµÕÀ¸·Î ±¸¼ºµÇ¾î Àִµ¥ »ÀÀܱâµÕÀº »À¸ð¼¼Æ÷·Î µ¤¿©ÀÖÁö ¾ÊÀº ¹«Ãþ»À(woven bone)ÀÌ´Ù.
¿µ¹® cervical dysplasia ÇÑ±Û ÀڱøñÇü¼ºÀÌ»ó
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  ÀڱøñÀ̶õ ÀÚ±ÃÀÌ Áú°ú ¿¬°áµÈ ºÎÀ§·Î ÀÚ±ÃÀÇ ÀÔ±¸¿¡ ÇØ´çÇϴ ºÎÀ§ÀÌ´Ù. À̰÷Àº »óÇǷΠµÑ·¯½×¿© ÀÖ´Ù. »óÇǶõ ½ÅüÀÇ ³»ºÎ³ª ¿ÜºÎ¸¦ ½×°í Àִ Á¶Á÷À» À̸£´Â ¸»·Î, ÀÌ »óÇÇÀÇ ¾Æ·¡¿¡´Â ´ë°³ »óÇǸ¦ ÁöÁöÇϰí Àִ Á¶Á÷ÀÌ Á¸ÀçÇÑ´Ù. ±×¸®°í ÀÌ ÁöÁöÁ¶Á÷°ú »óÇÇÀÇ »çÀÌ¿¡´Â ±âÀú¸·À̶ó´Â ¸·ÀÌ À־ »óÇǿ͠ÁöÁöÁ¶Á÷À» ±¸ºÐÇÑ´Ù. ÀڱðæºÎÀÌÇü¼ºÀ̶õ ¿©·¯ °¡Áö Àڱؿ¡ ÀÇÇØ¼­ ¾Ï¼ºº¯È­¸¦ ÇÑ ÀڱûóÇÇÀÇ ¼¼Æ÷°¡ ÀڱûóÇÇÀÇ ÀϺΰ¡ Â÷ÁöÇϰí Àִ °æ¿ì¸¦ À̸£´Â ¸»ÀÌ´Ù. Áï »óÇÇÀÇ ÀϺΰ¡ ¾Ï¼ºº¯È­¸¦ ÇÑ ¼¼Æ÷°¡ ¸Þ¿ì°í Àִ °ÍÀ» À̸¥´Ù. À̰͠ÀÚü°¡ ¾ÏÀº ¾Æ´ÏÁö¸¸ Àü¾Ï¼º º´º¯À̸ç À̰ÍÀÌ °è¼Ó Áø ÇàÀÌ µÇ¾î ÀڱûóÇÇÀÇ ÀüÃþÀ» ¾Ï¼¼Æ÷°¡ Ã¤¿ì°Ô µÇ¸é À̰ÍÀ» »óÇdz»¾ÏÁ¾À̶ó°í ºÎ¸£°í ¸¸¾à ´õ ÁøÇàÀÌ µÇ¾î¼­ ¾Ï¼¼Æ÷°¡ ±âÀú¸·À» ¶Õ°í »óÇǹØÀÇ ÁöÁö Á¶Á÷À» Ä§¹üÇÑ´Ù¸é À̰ÍÀ» Ä§À±¾ÏÀ̶ó°í ºÎ¸¥´Ù.
  
  ÀڱøñÇü¼ºÀÌ»ó
  
  
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hypohidrotic ectodermal dysplasia
    ¶¡ÀúÇϿܹ迱Çü¼ºÀÌ»óÁõ, ¹ßÇÑÀúÇϼº¿Ü¹è¿±Çü¼ºÀÌ»óÁõ
  • autosomal recessive disorder
    º¸Åë¿°»öü¿­¼ºÁúȯ
  • autosomal recessive trait
    º¸Åë¿°»öü¿­¼º¼ÒÁú, »ó¿°»öü¿­¼º¼ÒÁú
  • ectrodactyly-ectodermal dysplasia clefting syndrome
    °áÁö¿Ü¹è¿±Çü¼ºÀ̻󰥸²ÁõÈıº
  • ectodermal dysplasia
    ¿Ü¹è¿±Çü¼ºÀÌ»ó
  • hidrotic ectodermal dysplasia
    ¶¡È긲¿Ü¹è¿±Çü¼ºÀÌ»óÁõ, ¹ßÇѼº¿Ü¹è¿±Çü¼ºÀÌ»óÁõ
  • apical ectodermal ridge
    ²À´ë±â¿Ü¹è¿±´É¼±
  • ectodermal mesenchyme
    ¿Ü¹è¿±¼ºÁß°£¿±
  • ectodermal placode
    ¿Ü¹è¿±±â¿øÆÇ
  • autosomal chromosome
    º¸Åë¿°»öü, »ó¿°»öü
  • autosomal dominant disorder
    º¸Åë¿°»öü¿ì¼ºÁúȯ
  • autosomal dominant trait
    º¸Åë¿°»öü¿ì¼º¼ÒÁú, »ó¿°»öü¿ì¼º¼ÒÁú
  • autosomal gene
    º¸Åë¿°»öüÀ¯ÀüÀÚ
  • autosomal inheritance
    º¸Åë¿°»öüÀ¯Àü
  • autosomal trisomy
    º¸Åë¿°»öü¼¼¿°»öüÁõ
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 10 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • autosomal recessive trait
    º¸Åë¿°»öü¿­¼º¼ÒÁú
  • autosomal chromosome
    º¸Åë¿°»öü
  • recessive inheritance
    ¿­¼ºÀ¯Àü
  • recessive
    ¿­¼º-
  • autosomal dominant trait
    º¸Åë¿°»öü¿ì¼º¼ÒÁú
  • dysplasia
    Çü¼ºÀÌ»ó
  • cerebral cortical dysplasia
    ´ë³ú°ÑÁúÇü¼ºÀÌ»ó
  • hip developmental dysplasia
    ¾ûµ¢»ÀÇü¼ºÀÌ»ó
  • moderate dysplasia
    ÁߵÇü¼ºÀÌ»ó
  • spondyloepiphyseal dysplasia
    ôÃßÆÈ´Ù¸®»À³¡Çü¼ºÀÌ»ó, ôÃß»çÁö°ñ´ÜÇü¼ºÀÌ»ó
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hypohidrotic ectodermal dysplasia
    ¶¡ÀúÇϿܹ迱Çü¼ºÀÌ»óÁõ
  • autosomal recessive disorder
    º¸Åë¿°»öü¿­¼ºÁúȯ
  • autosomal recessive trait
    º¸Åë¿°»öü¿­¼º¼ÒÁú
  • ectodermal dysplasia
    ¿Ü¹è¿±Çü¼ºÀÌ»ó
  • hidrotic ectodermal dysplasia
    ¶¡È긲¿Ü¹è¿±Çü¼ºÀÌ»ó
  • apical ectodermal ridge
    ²À´ë±â¿Ü¹è¿±´É¼±
  • ectodermal mesenchyme
    ¿Ü¹è¿±¼ºÁß°£¿±
  • ectodermal placode
    ¿Ü¹è¿±±â¿øÆÇ
  • autosomal chromosome
    º¸Åë¿°»öü
  • autosomal gene
    º¸Åë¿°»öüÀ¯ÀüÀÚ
  • autosomal inheritance
    º¸Åë¿°»öüÀ¯Àü
  • autosomal trisomy
    º¸Åë¿°»öü¼¼¿°»öü
  • autosomal dominant disorder
    º¸Åë¿°»öü¿ì¼ºÁúȯ
  • autosomal dominant trait
    º¸Åë¿°»öü¿ì¼º¼ÒÁú
  • recessive character
    ¿­¼ºÇüÁú
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • X-linked hypohidrotic ectodermal dysplasia
    ¼º¿°»öü ¿¬°ü ¼ÒÇÑ ¿Ü¹è¿°Çü¼ºÀå¾Ö
  • generalized autosomal recessive dystrophic epidermolysis bullosa
    Àü½Å¼º »ó¿°»öü ¿­¼º ÀÌ¿µ¾ç¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • recessive autosomal gene
    ¿­¼ºº¸Åë¿°»öüÀ¯ÀüÀÚ
  • anhidrotic ectodermal dysplasia
    ¹«ÇѼº ¿Ü¹è¿± ÀÌÇü¼º.
  • anhidrotic ectodermal dysplasia
    ¶¡°áÇ̼º ¿Ü¹è¿± ÀÌÇü¼º
  • hereditary ectodermal dysplasia
    À¯Àü¼º ¿Ü¹è¿±¼º ÀÌÇü¼ºÁõ(¡­èâÛÏç¨àõì¶û¡à÷ ñø).
  • hidrotic ectodermal dysplasia
    ¹ßÇѼº ¿Ü¹è¿± ÀÌÇü¼º
  • amelo-cerebro-hypohidrotic syndrome
    ¿¡³ª¸á-´ë³ú-¶¡°ú¼ÒÁõÈıº
  • Conradi-Hunermann syndrome => chondrodysplasia punctata, autosomal dom
    »ó¿°»öü ¿ì¼ºÇü Á¡»ó¿¬°ñ ÀÌÇü¼º
  • apical ectodermal ridge
    ²À´ë±â¿Ü¹è¿±´É¼±
  • hereditary ectodermal polydysplasia
    À¯Àü(¼º) ¿Ü¹è¿±¼º ´Ù¹ßÀÌÇü¼ºÁõ.
  • pharyngeal ectodermal groove
    Àεοܹ迱±¸
  • pharyngeal ectodermal groove
    Àεοܹ迱±¸(¡­èâÛÏç¨Ïµ).
  • pharyngeal ectodermal groove
    Àεοܹ迱?¡­èâÛÏç¨Ïµ).
  • Engelmanns diaphyseal dysplasia
    ¿¨°Ö¸¸ °ñ°£ ÀÌÇü¼ºÁõ.
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hypohidrotic ectodermal dysplasia
    ¹ßÇÑÀúÇϼº ¿Ü¹è¿±ÀÌÇü¼º(Áõ).
  • autosomal recessive
    »ó¿°»öü¿­¼º(¡­æøßäô÷æëàõ)ÀÇ.
  • autosomal recessive disorders
    »ó¿°»öü ¿­¼ºÁúȯ(¡­Ö«àõòðü´)
  • autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemen
    »ó¿°»öü ¿­¼º ÀÌ¿µ¾ç¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • autosomal recessive ichthyosis
    »ó¿°»öü¿­¼º¾î¸°¼±
  • autosomal recessive inheritance
    »ó¿°»öü¼º ¿­¼ºÀ¯Àü(¡­æëàõë¶îî).
  • autosomal recessive traits
    »ó¿°»öü¿­¼ºÇüÁú.
  • generalized autosomal recessive dystrophic epidermolysis bullosa
    Àü½Å¼º »ó¿°»öü ¿­¼º ÀÌ¿µ¾ç¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • pedigree pattern of autosomal recessive trait
    »ó¿°»öü¼º ¿­¼ºÇüÁúÀÇ °¡°èµµ(¡­æëàõû¡òõ¡­Ê«Í§Óñ).
  • recessive autosomal gene
    ¿­¼ºº¸Åë¿°»öüÀ¯ÀüÀÚ
  • anhidrotic ectodermal dysplasia
    ¹«ÇѼº ¿Ü¹è¿± ÀÌÇü¼º.
  • anhidrotic ectodermal dysplasia
    ¶¡°áÇ̼º ¿Ü¹è¿± ÀÌÇü¼º
  • ectodermal dysplasia (anhidrosis)
    ¿Ü¹è¿±Çü¼ºÀå¾Ö (¶¡°á¿©Áõ)
  • ectrodactyly ectodermal dysplasia cleftlip syndrome =EEC s.
    ÁöÁö°á¼Õ ¼º ¿Ü¹è¿± ÀÌÇü¼º Åä¼øÁõÈıº(ò¦ò¿ÌÀáßàõèâÛÏç¨ì¶û¡à÷÷Íâîñøý¦ÏØ).
  • hereditary ectodermal dysplasia
    À¯Àü¼º ¿Ü¹è¿±¼º ÀÌÇü¼ºÁõ(¡­èâÛÏç¨àõì¶û¡à÷ ñø).
´ëÇÑÇØºÎÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 7 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • Recessive autosomal gene
    ¿­¼ºº¸Åë¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] ¿­¼º»ó¿°»öüÀ¯ÀüÀÚ
  • Recessive gonosomal gene
    ¿­¼º¼º¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] ¿­¼º¼º¿°»öüÀ¯ÀüÀÚ
  • Apical ectodermal ridge
    ²À´ë±â¿Ü¹è¿±´É¼±
    [¿¾ ¿ë¾î] ÷¿Ü¹è¿±¸ª
  • Autosomal gene
    º¸Åë¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] »ó¿°»öüÀ¯ÀüÀÚ
  • Ectodermal epithelium
    ¿Ü¹è¿±»óÇÇ
    [¿¾ ¿ë¾î] ¿Ü¹è¿±»óÇÇ
  • Ectodermal mesenchyme
    ¿Ü¹è¿±¼ºÁ߹迱
    [¿¾ ¿ë¾î] ¿Ü¹è¿±¼º°£¿±
  • Dominant autosomal gene
    ¿ì¼ºº¸Åë¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] ¿ì¼º»ó¿°»öüÀ¯ÀüÀÚ
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 3 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • recessive
    ¿­¼ºÇüÁú(Ö«àõû¡òõ)
  • recessive gene
    ¿­¼º À¯ÀüÀÚ(Ö«àõë¶îîí­)
  • recessive lethal gene
    ¿­¼º Ä¡»çÀ¯ÀüÀÚ(Ö«àõöÈÞÝë¶îîí­)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 12 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hereditary ectodermal polydysplasia
    À¯Àü¼º¿Ü¹è¿±¼º´Ù¹ßÀÌÇü¼ºÁõ
  • recessive
    ¿­¼ºÀÇ
  • autosomal
    »ó¿°»öüÀÇ
  • autosomal dominant inheritance
    »ó¿°»öü¿ì¼ºÀ¯ÀüÁúȯ
  • dysplasia
    ÀÌÇü¼ºÁõ, Çü¼ºÀå¾Ö
  • epiphyseal dysplasia
    °ñ´ÜÀÌÇü¼ºÁõ
  • fibrous dysplasia
    ¼¶À¯¼º ÀÌÇü¼ºÁõ
  • fibrous dysplasia, polyostotic
    ´Ù°ñ¼º¼¶À¯¼ºÀÌÇü¼ºÁõ
  • multiple epiphyseal dysplasia
    ´Ù¹ß¼º°ñ´ÜÀÌÇü¼ºÁõ
  • polyostotic fibrous dysplasia
    ´Ù°ñ¼º¼¶À¯¼º°ñÀÌÇü¼º(Áõ)
  • progressive diaphyseal dysplasia
    ÁøÇ༺°ñ°£¼ºÀÌÇü¼º(Áõ)
  • septooptic dysplasia
    °Ý¸·¾ÈÀÌÇü¼ºÁõ
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
HED hereditary ectodermal dysplasia; hydrotropic electron-donor; hypohidrotic ectodermal dysplasia; unit...
HEDH hypohidrotic ectodermal dysplasia-hypothyroidism [syndrome]
AR   1) Aortic Regurgitation
    = AI
  Echo¼Ò°ß
 &...
AR absolute risk; accounts receivable; achievement ratio; actinic reticuloid [syndrome]; active resista...
AROA autosomal recessive ocular albinism
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
HED Hypohidrotic ectodermal dysplasia
AR Autosomal Recessive
AR-JP Autosomal recessive juvenile parkinsonism
ARPKD Autosomal recessive polycystic kidney disease
ARRP Autosomal recessive retinitis pigmentosa
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • X-linked hypohidrotic ectodermal dysplasia
    ¼º¿°»öü ¿¬°ü ¼ÒÇÑ ¿Ü¹è¿± Çü¼ºÀå¾Ö
  • autosomal recessive disorder
    »ó¿°»öü ¿­¼º Áúȯ
  • autosomal recessive ichthyosis
    »ó¿°»öü ¿­¼º ¾î¸°¼±
  • autosomal recessive inheritance
    »ó¿°»öü¼º ¿­¼º À¯Àü
  • anhidrotic ectodermal dysplasia
    ¹«ÇѼº ¿Ü¹è¿± ÀÌÇü¼º, ¹«ÇѼº ¿Ü¹è¿± ÀÌÇü¼ºÁõ
  • ectodermal dysplasia
    ¿Ü¹è¿± ÀÌÇü¼ºÁõ
    ¹ß»ýµµÁß ¿ÜºÎ Àڱؿ¡ ÀÇÇØ »ý¼ºµÇ¾î¾ß ÇÒ ¿Ü¹è¿±ÀÌ »ý¼ºµÇÁö ¾Ê°í ´Ù¸¥ Á¶Á÷ÀÌ ¹ß»ýÇÏ´Â °Í.
  • hereditary ectodermal dysplasia
    À¯Àü¼º ¿Ü¹è¿±¼º ÀÌÇü¼ºÁõ
  • amelo-cerebro-hypohidrotic syndrome
    ¿¡³ª¸á-´ë³ú-¶¡°ú¼Ò ÁõÈıº
  • ectodermal defect
    ¿Ü¹è¿± °á¼Õ, ¿Ü¹è¿± °á¼ÕÁõ
  • recessive gene
    ¿­¼º À¯ÀüÀÚ
    ¿­¼º ÈÄÅð ¶Ç´Â ÇÔ¿äÇϱ⠽¬¿î °Í. Áö¹è·ÂÀ» ³ªÅ¸³»Áö ¸øÇϰųª ¿µÇâ·ÂÀ» ÅëÁ¦ÇÏÁö ¸øÇÏ´Â °Í. À¯ÀüÇп¡¼­´Â ´ë¸³ À¯ÀüÀÚ°¡ »óµ¿ ¿°»öü »ó¿¡ ¾øÀ¸¸é ÇüÁúÀ» ¹ßÇöÇÏÁö ¸øÇÏ´Â °Í.
  • recessive homozygote
    ¿­¼º È£¸ð Á¢ÇÕü
  • recessive lethals
    ¿­¼º Ä¡»çÀÎ
  • recessive trait
    ¿­¼º ÇüÁú
  • x-linked recessive inheritance
    ¹Ý¼º ¿­¼º À¯Àü
  • autosomal abnormality
    »ó¿°»öü ÀÌ»ó
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
hypohidrotic ectodermal dysplasia A hereditary condition (most often x linked) that is characterised by the abnormal development of skin, absence of sweat glands, dry eyes and abnormal development of teeth.
Symptoms include absent teeth, peg teeth, inability to sweat, thin skin and heat intolerance. Mucous membrane involvement may result in a foul-smelling nasal discharge. The inability to sweat leads to the inability to maintain normal body temperature in a warm environment. Some may exhibit fevers and will require artificial cooling.
Inheritance: mostly sex-linked (X chromosome).
Origin: Gr. Plassein = to form
(12 Nov 1997)
autosomal recessive <genetics> Mutation carried on an autosome that is deleterious only in homozygotes.
(02 Jan 1998)
recessive, autosomal A gene on a nonsex chromosome (an autosome) that expresses itself only when there is no different gene present at that locus (spot on the chromosome). For example, cystic fibrosis (cf) is an autosomal recessive disorder. A cf child has the cf gene on both chromosome 7's (and so is said to be homozygous for cf).
(12 Dec 1998)
kidney, polycystic, autosomal recessive Rare genetic disorder with autosomal recessive inheritance characterised by multiple cysts in both kidneys and associated hepatic lesions. Serious manifestations are usually present at birth and there is high perinatal mortality.
(12 Dec 1998)
anhidrotic ectodermal dysplasia A hereditary condition (most often x linked) that is characterised by the abnormal development of skin, absence of sweat glands, dry eyes and abnormal development of teeth.
Symptoms include absent teeth, peg teeth, inability to sweat, thin skin and heat intolerance. Mucous membrane involvement may result in a foul-smelling nasal discharge. The inability to sweat leads to the inability to maintain normal body temperature in a warm environment. Some may exhibit fevers and will require artificial cooling.
Inheritance: mostly sex-linked (X chromosome).
Origin: Gr. Plassein = to form
(12 Nov 1997)
congenital ectodermal dysplasia Incomplete development of the epidermis and skin appendages; the skin is smooth and hairless, the facies abnormal, and the teeth and nails may be affected; sweating may be deficient.
Synonym: congenital ectodermal dysplasia.
(05 Mar 2000)
hidrotic ectodermal dysplasia Congenital dystrophy of the nails and hair with thickened nails and sparse or absent scalp hair; often associated with keratoderma of the palms and soles; teeth and sweat gland function are normal; autosomal dominant inheritance.
(05 Mar 2000)
ectodermal dysplasia A hereditary condition (most often x linked) that is characterised by the abnormal development of skin, absence of sweat glands, dry eyes and abnormal development of teeth.
Symptoms include absent teeth, peg teeth, inability to sweat, thin skin and heat intolerance. Mucous membrane involvement may result in a foul-smelling nasal discharge. The inability to sweat leads to the inability to maintain normal body temperature in a warm environment. Some may exhibit fevers and will require artificial cooling.
Origin: Gr. Plassein = to form
(27 Sep 1997)
ectrodactyly-ectodermal dysplasia-clefting syndrome <syndrome> An autosomal recessive disorder resulting in defects of hands and feet; the ectodermal dysplasia causes fair skin, anodontia, and cleft palate.
(05 Mar 2000)
hypohidrotic Characterised by diminished sweating.
(05 Mar 2000)
autosomal Pertaining to an autosome.
(05 Mar 2000)
autosomal dominant <genetics> Requires only one affected parent have the trait to pass it to offspring.
(02 Jan 1998)
autosomal gene A gene located on any chromosome other than the sex chromosomes (X or Y).
(05 Mar 2000)
kidney, polycystic, autosomal dominant A genetic disorder with autosomal dominant inheritance characterised by multiple cysts in both kidneys and progressive deterioration of renal function. It is usually caused by a mutant gene at the pkd1 locus on the short arm of chromosome 16, though mutations elsewhere in the genome can also cause the disease. The age of onset of symptoms varies widely.
(12 Dec 1998)
apical ectodermal ridge The layer of surface ectodermal cells at the apex of the embryonic limb bud; considered to exert an inductive influence on the condensation of underlying mesenchyme.
(05 Mar 2000)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive - »õâ An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.
    Synonyms : Anhidridic Ectodermal Dysplasia, Autosomal Recessive, Anhydridic Ectodermal Dysplasia, Autosomal Recessive, Autosomal Recessive Anhidrotic Ectodermal Dysplasia, Autosomal Recessive Anhydrotic Ectodermal Dysplasia
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