Ehlers-Danlos syndrome classic-like 1

Term ID

DOID:0080731

Synonyms

Definition

An 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. https://pubmed.ncbi.nlm.nih.gov/28306229/

References

• OMIM:606408

Ontology

Human Disease   ( DOID:0080731 )