| ¿µ¹® | atrophy | ÇÑ±Û | À§Ãà(Áõ) |
|---|---|---|---|
| ¼³¸í | Á¶Á÷À̳ª ¼¼Æ÷ ȤÀº ±â°üÀÇ Å©±â°¡ ¿ø·¡ÀÇ Å©±â¿¡ ºñÇÏ¿© ÁÙ¾îµå´Â °ÍÀ» ÀÏÄ´ ¸». óÀ½ºÎÅÍ Å©±â°¡ ÀÛÀº ¹«Çü¼º/Çü¼ºÀúÇÏÁõ(aplasia/hypoplasia)¿Í ±¸º°µÈ´Ù. |
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| ¿µ¹® | optic nerve | ÇÑ±Û | ½Ã°¢½Å°æ |
|---|---|---|---|
| ¼³¸í | ½Ã°¢À» ÀÎÁöÇÏ´Â ½Å°æ. ÀÌ ½Å°æÀº ´ÜÁö °¨°¢½Å°æÀ¸·Î¼¸¸ ÀÛ¿ëÇÑ´Ù. µû¶ó¼ ¾î¶² »ç¹°À» µû¶ó ´«À» ¿òÁ÷ÀÏ ¼ö ÀÖ´Â °ÍÀº ÀÌ ½Ã°¢½Å°æ°ú´Â ¹«°üÇÏ´Ù(À̰ÍÀº ´«µ¹¸²½Å°æ(oculomotor nerve)¿¡ ÀÇÇØ °¡´ÉÇÏ´Ù). ¶ÇÇÑ ½Ã°¢½Å°æÀº °íÀ§ÁßÃ߽Űæ°èÀÎ ³ú¿¡¼ Á÷Á¢ ºÐÁöÇϹǷΠ¼Õ»ó½Ã Àç»ýÀº ºÒ°¡´ÉÇϸç, ÀÌ¿¡ ´ëÇÑ Ä¡·á¹ýÀº ¾ø´Ù. |
||
| DJOA | dominant juvenile optic atrophy |
|---|---|
| DOA | date of admission; dead on arrival; Department of Agriculture; depth of anesthesia; differential opt... |
| ACD | 1) Absolute Cardiac Dullness; Àý´ë½ÉµÐŹÀ½ 2) Anemia of Chronic Disease &nbs... |
| AD | 1) Alveolar Duct 2) Autosomal Dominant 3) Auris Dextra; Ri... |
| ACHOO | autosomal dominant compelling helio-ophthalmic outburst [syndrome] |
| AD | Autosomal Dominant |
|---|---|
| ADCA | Autosomal Dominant Cerebellar Ataxia |
| ADPKD | Autosomal Dominant Polycystic Kidney Disease |
| ADNFLE | Autosomal dominant nocturnal frontal lobe epilepsy |
| ADRP | Autosomal dominant retinitis pigmentosa |
| autosomal dominant | <genetics> Requires only one affected parent have the trait to pass it to offspring. (02 Jan 1998) |
|---|---|
| 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) |
| optic atrophy | Atrophy of the optic disk resulting from degeneration of the nerve fibres of the optic nerve and optic tract. (12 Dec 1998) |
| optic atrophy, hereditary | An inherited disorder in which optic atrophy is associated with muscle weakness, peroneal muscular atrophy and, in some patients, lancinating pains. In these patients the peripheral sensory neurons are probably affected. (12 Dec 1998) |
| Leber's hereditary optic atrophy | Hereditary degeneration of the optic nerve and papillomacular bundle with resulting rapid loss of central vision, progressive for several weeks, then usually stationary with permanent central scotoma; age of onset is variable, most often in the third decade; more males than females are affected and transmission is cytoplasmic and strictly on the female side. Mutation on the mitochondrial chromosome involved, which presumably interacts with an X-linked mutant. This mechanism may explain the bizarre sex ratio, which differs significantly from one country to another. (05 Mar 2000) |
| autosomal | Pertaining to an autosome. (05 Mar 2000) |
| autosomal gene | A gene located on any chromosome other than the sex chromosomes (X or Y). (05 Mar 2000) |
| 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) |
| genes, dominant | Genes that are reflected in the phenotype both in the homozygous and the heterozygous state. (12 Dec 1998) |
| permanent dominant idea | An exaggerated notion, belief, or delusion that persists, despite evidence to the contrary, and controls the mind, the obstinate conviction of a psychotic person regarding the correctness of his delusion. Synonym: idee fixe, overvalued idea, permanent dominant idea. (05 Mar 2000) |
| dominant | <genetics> A gene is said to be dominant if it expresses its phenotype even in the presence of a recessive gene. (09 Oct 1997) |
| dominant character | An inherited character determined by one kind of allele. See: phenotype. (05 Mar 2000) |
| dominant eye | The eye that is customarily used for monocular tasks. Synonym: master eye. (05 Mar 2000) |
Synonyms : Autosomal Dominant Optic Atrophy, Optic Atrophy Type 1, Optic Atrophy, Kjer Type, Dominant Optic Atrophies, Optic Atrophies, Dominant, Optic Atrophy, Dominant
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