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Ehlers-Danlos Syndrome Classic-Like 1

Disease ID: disease_node_18766

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DbxrefMIM:606408
SubclassofDOID_0050737, DOID_13359
Data SourceDOID
Doid LabelEhlers-Danlos syndrome classic-like 1
Doid DescriptionAn Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_18766
Doid IdDOID_0080731
LabelEhlers-Danlos Syndrome Classic-Like 1