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  • retinal dystrophy
    ¸Á¸·ÀÌ¿µ¾ç(Áõ)
  • retinitis punctata albescence->albipunctate retinal dystrophy
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  • rod dystrophy
    °£Ã¼ÀÌ¿µ¾ç(Áõ)
  • solenonychia => median nail dystrophy
  • tapetochoroidal dystrophy
    »ö¼Ò»óÇǸƶô¸·ÀÌ¿µ¾ç(Áõ)
  • thoracic dystrophy
    Èä°ûÀÌ¿µ¾çÁõ(ýØü©ì¶ç½å×ñø), Èä°ûÀ§Ãà(¡­ê×õê)
  • twenty nail dystrophy
    20¼Õ¹ßÅé ¿µ¾çÀå¾Ö,Àü¼Õ¹ßÅé ÀÌ¿µ¾çÁõ
  • vitreoretinal dystrophy
    À¯¸®Ã¼¸Á¸·ÀÌ¿µ¾ç(Áõ)
  • vortex dystrophy
    ¶Ç¾Æ¸®¸ð¾çÀÌ¿µ¾ç(Áõ), ¿Í»óÀÌ¿µ¾ç(Áõ)
  • whistling face syndrome => cranio carpotarsal dystrophy
  • congenital hereditary sensorineural
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  • exostosis,hereditary multiple
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  • familial hereditary tremor
    °¡Á·¼º À¯ÀüÁøÀü(Ê«ðéàõë¶îîòèïµ).
  • hearing loss, congenital hereditary
    ¼±Ãµ(¼º) À¯Àü¼º ³­Ã»
  • hereditary
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MyMD myotonic muscular dystrophy
NFMD National Foundation for Muscular Dystrophy
OMD ocular muscle dystrophy; oculomandibulodyscephaly; organic mental disorder; oromandibular dystonia
PMD Pelizaeus-Merzbacher disease; posterior mandibular depth; primary myocardial disease; private medici...
RSD reflex sympathetic dystrophy; relative standard deviation
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HHT Hereditary Haemorrhagic Telangiectasia
HHT1 Hereditary Haemorrhagic Telangiectasia Type 1
HMSN Hereditary Motor and Sensory Neuropathies
HME Hereditary Multiple Exostoses
HNA Hereditary Neuralgic Amyotrophy
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eye diseases, hereditary Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
(12 Dec 1998)
facioscapulohumeral muscular dystrophy A relatively benign type of muscular dystrophy commencing in childhood and slowly progressive; characterised by wasting and weakness, sometimes asymmetrical, mainly of the muscles of the face, shoulder girdle, and arms; autosomal dominant inheritance.
Synonym: facioscapulohumeral atrophy, Landouzy-Dejerine dystrophy.
(05 Mar 2000)
Favre's dystrophy Autosomal recessive bilateral peripheral and central retinoschisis with pigmentary degeneration of the retina, chorioretinal atrophy, vitreous degeneration, and night blindness.
Synonym: Favre's dystrophy.
(05 Mar 2000)
fingerprint dystrophy A condition wherein fine parallel lines in a fingerprint configuration area are seen in the basal epithelial layer and basement membrane of the corneal epithelium.
See: map-dot-fingerprint dystrophy.
(05 Mar 2000)
fleck dystrophy of cornea A bilateral occurrence of subtle spots in the corneal stroma; the spots vary in size and shape, and have sharp margins and clear centres; photophobia may occur; autosomal dominant inheritance.
(05 Mar 2000)
Landouzy-Dejerine dystrophy A relatively benign type of muscular dystrophy commencing in childhood and slowly progressive; characterised by wasting and weakness, sometimes asymmetrical, mainly of the muscles of the face, shoulder girdle, and arms; autosomal dominant inheritance.
Synonym: facioscapulohumeral atrophy, Landouzy-Dejerine dystrophy.
(05 Mar 2000)
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)
fuchs' endothelial dystrophy Disorder caused by loss of endothelium of the central cornea. It is characterised by hyaline endothelial outgrowths on descemet's membrane, epithelial blisters, reduced vision, and pain.
(12 Dec 1998)
Fuchs' epithelial dystrophy Epithelial oedema secondary to endothelial dystrophy of the cornea.
(05 Mar 2000)
Leyden-Mobius muscular dystrophy One of the less well-defined types of muscular dystrophy, probably heterogenous in nature. Onset usually in childhood or early adulthood and both sexes affected. Characterised by weakness and wasting, usually symmetrical, of the pelvic girdle muscles, the shoulder girdle muscles, or both, but not the facial muscles. Muscle pseudohypertrophy, heart involvement, and mental retardation are absent. Variable inheritance.
Synonym: Leyden-Mobius muscular dystrophy, pelvofemoral muscular dystrophy, scapulohumeral muscular dystrophy.
(05 Mar 2000)
limb-girdle muscular dystrophy One of the less well-defined types of muscular dystrophy, probably heterogenous in nature. Onset usually in childhood or early adulthood and both sexes affected. Characterised by weakness and wasting, usually symmetrical, of the pelvic girdle muscles, the shoulder girdle muscles, or both, but not the facial muscles. Muscle pseudohypertrophy, heart involvement, and mental retardation are absent. Variable inheritance.
Synonym: Leyden-Mobius muscular dystrophy, pelvofemoral muscular dystrophy, scapulohumeral muscular dystrophy.
(05 Mar 2000)
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