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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:Ehlers-Danlos syndrome classic-like 1
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Accession:DOID:0080731 term browser browse the term
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. (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
 primary_id: MESH:C536193
 alt_id: OMIM:606408
For additional species annotation, visit the Alliance of Genome Resources.



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Ehlers-Danlos syndrome classic-like 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency OMIM
ClinVar
PMID:1620134 PMID:9288108 PMID:11642233 PMID:11925569 PMID:12865992 More...

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      Ehlers-Danlos syndrome 226
        Ehlers-Danlos syndrome classic-like 1 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Hemic and Lymphatic Diseases 3313
        hematopoietic system disease 2848
          blood coagulation disease 843
            hemorrhagic disease 812
              vascular hemostatic disease 439
                Ehlers-Danlos syndrome 226
                  Ehlers-Danlos syndrome classic-like 1 1
paths to the root