RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
EDS due to TNX deficiency; EDSCLL; Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency; Ehlers-Danlos syndrome due to tenascin-X deficiency; Ehlers-Danlos syndrome, classic-like; Ehlers-Danlos-like syndrome due to tenascin-X deficiency; TNX deficiency
ClinVar Annotator: match by OMIM:606408 ClinVar Annotator: match by term: Ehlers-Danlos-like syndrome due to tenascin-X deficiency ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency