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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 OMIM:606408
ClinVar Annotator: match by term: Ehlers-Danlos-like syndrome due to tenascin-X deficiency
OMIM
ClinVar
PMID:1620134, PMID:9288108, PMID:11642233, PMID:11925569, PMID:12865992, PMID:15733269, PMID:23284009, PMID:23768946, PMID:24033266, PMID:24088041, PMID:25741868, PMID:26075496, PMID:26633545, PMID:28344932

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Ehlers-Danlos syndrome 104
        Ehlers-Danlos syndrome classic-like 1 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          blood coagulation disease 624
            hemorrhagic disease 611
              vascular hemostatic disease 298
                Ehlers-Danlos syndrome 104
                  Ehlers-Danlos syndrome classic-like 1 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.