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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
 broad_synonym: TNXB-RELATED CONDITION
 primary_id: MESH:C536193
 alt_id: MIM:606408


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Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Ehlers-Danlos syndrome 259
        Ehlers-Danlos syndrome classic-like 1 1
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Skin Abnormalities 1322
                Ehlers-Danlos syndrome 259
                  Ehlers-Danlos syndrome classic-like 1 1
paths to the root