Metadata | |
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ID | DOID:0080731 |
Name | Ehlers-Danlos syndrome classic-like 1 |
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/ |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |