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Ehlers-Danlos syndrome classic-like 3 - Ontology Report - Rat Genome Database

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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 3
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Accession:DOID:9003822 term browser browse the term
Definition:This disease is an autosomal dominant connective tissue disorder characterized by joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time, and age-related aortic dilatation and rupture.
Synonyms:exact_synonym: EDSCLL3;   EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 3;   Ehlers-Danlos syndrome classic-like type 3
 primary_id: OMIM:620865

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Ehlers-Danlos syndrome classic-like 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thbs2 thrombospondin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 3 ClinVar PMID:25741868 PMID:38433265 NCBI chr 1:55,670,394...55,699,789
Ensembl chr 1:55,670,394...55,699,789 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      Ehlers-Danlos syndrome 258
        Ehlers-Danlos syndrome classic-like 3 1
Path 2
Term Annotations click to browse term
  disease 19143
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              Genetic Skin Diseases 1869
                Ehlers-Danlos syndrome 258
                  Ehlers-Danlos syndrome classic-like 3 1
paths to the root