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Urbachova-Wiethova lipoidproteinóza

  1. Record numberd008065
    Date06.06.2025
    TypeM - MESH
    Topical termUrbachova-Wiethova lipoidproteinóza
    Other termEnglish (Pseudonym) Lipoproteinosis
    English (Pseudonym) Urbach-Wiethe Disease
    Slovak (Pseudonym) proteinóza lipidová
    Slovak (Pseudonym) lipoproteinóza
    Slovak (Pseudonym) Urbachova-Wiethova choroba
    See also(Skutočné meno) syndróm hyalínovej fibromatózy
    (Later heading) lipoproteíny
    (Later heading) syndróm hyalínovej fibromatózy
    UDCC08.618.490.500C16.320.850.595
    NoteAn 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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