Disease: Arachnodactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 GeneticVariation disease BEFREE To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly. 27339457 2016
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 GeneticVariation disease BEFREE Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. 19664000 2009
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.120 Biomarker disease HPO