| ¿µ¹® | albinism | ÇÑ±Û | ¹éÇÇÁõ, ¹é»öÁõ |
|---|---|---|---|
| ¼³¸í | ¼±Ãµ¼ºÀ¸·Î ¸á¶ó´Ñ(ÇǺÎ, ¸ð¹ß, ´«ÀÇ »öÀ» ³ªÅ¸³»´Â Àΰ£ÀÇ »ö¼Ò)ÀÇ °áÇÌÀ¸·Î ÀÎÇÏ¿© ¸ð¹ß, ÇǺΠȤÀº ´«¿¡ »ö°¥ÀÌ ¾ø¾î Èñ°Ô º¸ÀÌ°Ô µÇ´Â º´. ¸á¶ó´ÑÀº Àڿܼ±À» Èí¼öÇÏ¿© ÇǺθ¦ Å¾籤¼±À¸·Î ºÎÅÍ º¸È£ÇÏ´Â ÀÛ¿ëÀÌ Àֱ⠶§¹®¿¡ ÀÌ º´°ú °°ÀÌ ¸á¶ó´ÑÀÌ ¾øÀ» °æ¿ì¿¡ ÅÂ¾ç ±¤¼±¿¡ ÀÇÇÑ ÇǺÎÀÇ ¼Õ»óÀÌ ½ÉÇØÁö°í ÇǺξϰú ±âŸÀÇ ¾ÏÀÇ À§ÇèÀÌ ³ô´Ù. |
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| ADFN | albinism-deafness [syndrome]; albinism-deafness syndrome |
|---|---|
| AR | 1) Aortic Regurgitation = AI Echo¼Ò°ß &... |
| OCA | Oculo-Cutaneous Albinism |
| ALDS | albinism-deafness syndrome |
| AROA | autosomal recessive ocular albinism |
| OA1 | Ocular albinism type 1 |
|---|---|
| OCA | Oculocutaneous albinism |
| albinism | <dermatology> Condition in which no melanin (or other pigment) is present. (05 Feb 1998) |
|---|---|
| albinism, ocular | Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is x-linked (nettleship-falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. (12 Dec 1998) |
| albinism, oculocutaneous | Heterogeneous group of autosomal recessive disorders comprising at least four recognised types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types. (12 Dec 1998) |
| rufous albinism | A pigmentary anomaly of blacks, characterised by red or yellow-red hair colour, copper-red skin, and often by dilution of iris pigment. Synonym: rufous albinism. Origin: G. Xanthos, yellowish (05 Mar 2000) |
| cutaneous albinism | An autosomal dominant condition characterised by patterned loss of skin pigment on extremities and ventral thorax; a white forelock is often present, but no ocular findings. (05 Mar 2000) |
| ocular albinism | The absence of pigment chiefly in the iris, choroid, and retinal pigment epithelium with deafness; X-linked inheritance. (05 Mar 2000) |
| oculocutaneous albinism | An autosomal recessive deficiency of pigment in skin, hair, and eyes; in the tyrosinase negative type, there is an absence of tyrosinase; in the tyrosinase positive type, there is normal tyrosinase which cannot enter pigment cells; it is transmitted by an autosomal recessive inheritance. The compound heterozygote is normal so the two forms are not allelic. There are several types: type IA is characterised by absence of tyrosinase with life-long complete absence of melanin, marked photophobia, and nystagmus. Type IB, yellow albinism with low or absent tyrosinase; improves with age. Type II, with normal tyrosinase activity is the most common; hair darkens and nevi and freckles develop. Type III is characterised by absent tyrosinase but pigmentation of the iris in the first decade. Type IV in Africans with normal tyrosinase. Type V with red hair. Type VI, Hermansky-Padlak syndrome, with haemorrhage due to platelet deficiency and low to absent tyrosinase. Synonym: Hermansky-Pudlak syndrome type VI. (05 Mar 2000) |
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