| ¿µ¹® | recessive | ÇÑ±Û | ¿¼º |
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| DEB | diepoxybutane; diethylbutanediol; Division of Environmental Biology; dystrophic epidermolysis bullos... |
|---|---|
| DEBRA | Dystrophic Epidermolysis Bulosa Research Association |
| EBA | epidermolysis bullosa acquisita; epidermolysis bullosa atrophicans; orthoethoxybenzoic acid |
| DEBS | dominant epidermolysis bullosa simplex |
| EAT | Eating Attitudes Test; Ehrlich ascites tumor; electro-aerosol therapy; epidermolysis acuta toxica; e... |
| RDEB | Recessive dystrophic epidermolysis bullosa |
|---|---|
| DEB | Dystrophic Epidermolysis Bullosa |
| AR | Autosomal Recessive |
| AR-JP | Autosomal recessive juvenile parkinsonism |
| ARPKD | Autosomal recessive polycystic kidney disease |
| dystrophic | Relating to dystrophy. (05 Mar 2000) |
|---|---|
| dystrophic calcification | Calcification occurring in degenerated or necrotic tissue, as in hyalinised scars, degenerated foci in leiomyomas, and caseous nodules. (05 Mar 2000) |
| dystrophic calcinosis | A deposit of calcium in the skin; usually occurs secondary to a preexisting inflammatory, degenerative, or neoplastic dermatosis, and is frequently seen in scleroderma. Synonym: dystrophic calcinosis, skin stones. (05 Mar 2000) |
| epidermolysis | A condition in which the epidermis is loosely attached to the corium, readily exfoliating or forming blisters. Origin: epidermis + G. Lysis, loosening (05 Mar 2000) |
| epidermolysis bullosa | This represents a group of rare inherited disorders in which blistering of the skin occurs in response to skin trauma. Large fluid-filled blisters can occur in response to injury, skin rubbing, chafing or even increases in room temperature. Secondary bacterial infection of the blisters is common. Complications include oesophageal stricture, infections, loss of function of hands and feet and malnutrition. The dermatologist is the expert in the evaluation and treatment of this disorder. (27 Sep 1997) |
| epidermolysis bullosa acquisita | Form of epidermolysis bullosa characterised by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IgG deposited at the dermo-epidermal junction. (12 Dec 1998) |
| epidermolysis bullosa dystrophica | Form of epidermolysis bullosa characterised by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. (12 Dec 1998) |
| epidermolysis bullosa, junctional | Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterised by generalised blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane. (12 Dec 1998) |
| epidermolysis bullosa lethalis | Epidermolysis bullosa in which the bullae are persistent, nonhealing, and often present in the oral mucosa and trachea, but not on the palms and soles, leading to death. Synonym: epidermolysis bullosa, junctional type, Herlitz syndrome. (05 Mar 2000) |
| epidermolysis bullosa simplex | This represents a group of rare inherited disorders in which blistering of the skin occurs in response to skin trauma. Large fluid-filled blisters can occur in response to injury, skin rubbing, chafing or even increases in room temperature. Secondary bacterial infection of the blisters is common. Complications include oesophageal stricture, infections, loss of function of hands and feet and malnutrition. The dermatologist is the expert in the evaluation and treatment of this disorder. (27 Sep 1997) |
| autosomal recessive | <genetics> Mutation carried on an autosome that is deleterious only in homozygotes. (02 Jan 1998) |
| genes, recessive | Genes that are reflected in the phenotype only in the homozygous state. (12 Dec 1998) |
| recessive | <genetics> An allele or mutation that is only expressed phenotypically when it is present in the homozygous form. In the heterozygote it is obscured by dominant alleles. (18 Nov 1997) |
| 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) |
| recessive character | An inherited character determined by an allele in homozygous state only. See: dominance of traits. (05 Mar 2000) |
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