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Urbachin ja Wiethen lpioidiproteinoosi
Hierarki: | ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi 69 sidobegrepp∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Cicatrix | ∟ ∟ ∟ ∟ Erythema | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Prurigo | ∟ Pruritus | ∟ Pyoderma | ∟ Rosacea | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi 69 sidobegrepp∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Cicatrix | ∟ ∟ ∟ ∟ Erythema | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Prurigo | ∟ Pruritus | ∟ Pyoderma | ∟ Rosacea | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi 69 sidobegrepp∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Cicatrix | ∟ ∟ ∟ ∟ Erythema | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Prurigo | ∟ Pruritus | ∟ Pyoderma | ∟ Rosacea | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi 69 sidobegrepp∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Cicatrix | ∟ ∟ ∟ ∟ Erythema | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Prurigo | ∟ Pruritus | ∟ Pyoderma | ∟ Rosacea | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi 69 sidobegrepp∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Cicatrix | ∟ ∟ ∟ ∟ Erythema | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Prurigo | ∟ Pruritus | ∟ Pyoderma | ∟ Rosacea | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi 69 sidobegrepp∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Cicatrix | ∟ ∟ ∟ ∟ Erythema | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Prurigo | ∟ Pruritus | ∟ Pyoderma | ∟ Rosacea | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi 69 sidobegrepp∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Cicatrix | ∟ ∟ ∟ ∟ Erythema | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Prurigo | ∟ Pruritus | ∟ Pyoderma | ∟ Rosacea | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi 69 sidobegrepp∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Cicatrix | ∟ ∟ ∟ ∟ Erythema | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Prurigo | ∟ Pruritus | ∟ Pyoderma | ∟ Rosacea | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi 69 sidobegrepp∟ Albinism | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Cicatrix | ∟ ∟ ∟ ∟ Erythema | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Prurigo | ∟ Pruritus | ∟ Pyoderma | ∟ Rosacea | ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi ∟ ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi ∟ ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi ∟ ∟ ∟ ∟ Urbachin ja Wiethen lpioidiproteinoosi |
Anmärkning: | An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.
X |
historyNote*: | 2007 (1975)
X |
publicMeSHNote*: | 2007; see LIPOIDPROTEINOSIS 1991-2006, see LIPOIDOSIS 1975-1990
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1999-01-01X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Lipoidiproteinoosi (fi, ersatt) XLipoid Proteinosis of Urbach and Wiethe (en) Urbach-Wiethe Syndrome (en, ersatt) Urbach-Wiethe Lipoid Proteinosis (en, ersatt) Lipoproteinosis (en, ersatt) Urbach-Wiethe Disease (en, ersatt) Lipoidproteinosis (en, ersatt) Lipoidproteinosis (la-FI, ersatt) |
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