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DeCS
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Descriptor English:
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Lipoid Proteinosis of Urbach and Wiethe
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Descriptor Spanish:
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Proteinosis Lipoidea de Urbach y Wiethe
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Descriptor Portuguese:
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Proteinose Lipoide de Urbach e Wiethe
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Synonyms English:
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Lipoproteinosis
Urbach-Wiethe Disease
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Tree Number:
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C08.618.490.500
C16.320.850.595
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Definition English:
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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. |
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See Related English:
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Hyalinosis, Systemic
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History Note English:
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2007 (1975)
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Allowable Qualifiers English:
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Record Number:
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8240
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Unique Identifier:
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D008065
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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