Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Término preferido
Lipoid Proteinosis of Urbach and Wiethe
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Tipo
-
mesh:Descriptor
Definición
- 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.
Concepto genérico
Etiquetas alternativas
- Hyalinosis Cutis et Mucosae
- Lipoidproteinosis
- Lipoproteinosis
- Urbach-Wiethe Disease
- Urbach-Wiethe Lipoid Proteinosis
- Urbach-Wiethe Syndrome
En otras lenguas
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francés
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Hyalinose cutanée et muqueuse
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Hyalinose cutanéo-muqueuse
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Hyalinose cutanéomuqueuse
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Hyalinose d'Urbach-Wiethe
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Lipoïdo-protéinose d'Urbach-Wiethe
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Lipoïdoprotéinose
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Lipoïdoprotéinose d'Urbach-Wiethe
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Lipoprotéinose d'Urbach-Wiethe
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Lipoprotéinose de la peau et des muqueuses
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Maladie d'Urbach-Wiethe
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Protéinose lipoïde d'Urbach-Wiethe
URI
http://data.loterre.fr/ark:/67375/JVR-DG4QHR6H-5
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