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| ¿µ¹® | fibrous dysplasia | ÇÑ±Û | ¼¶À¯Çü¼ºÀÌ»ó |
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| ¼³¸í | ±¹¼Ò ¹ßÀ°Àå¾Ö·Î »ÀÀÇ ¸ðµç ¼ººÐÀÌ ³ªÅ¸³ª³ª ¼º¼÷ÇÑ ±¸Á¶·Î ºÐÈÇÏÁö´Â ¸øÇÏ´Â º´ÀÌ´Ù. ÀÓ»óÀ¸·Î ÇϳªÀÇ »À ȤÀº ¿©·¯°³ÀÇ »À¸¦ µ¿½Ã¿¡ ħ¹üÇÒ 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´ÅÍ·Î Á¶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. |
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| 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 |
| HED | Hypohidrotic ectodermal dysplasia |
|---|---|
| AR | Autosomal Recessive |
| AR-JP | Autosomal recessive juvenile parkinsonism |
| ARPKD | Autosomal recessive polycystic kidney disease |
| ARRP | Autosomal recessive retinitis pigmentosa |
| 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) |
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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