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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 hypermobility type
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Accession:DOID:14757 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. (DO)
Synonyms:exact_synonym: Benign hypermobility syndrome;   EDS III;   EDS3;   Ehlers-Danlos syndrome type 3;   Ehlers-Danlos syndrome type III
 primary_id: MESH:C536196
 alt_id: OMIM:130020
 xref: GARD:2081;   ICD10CM:Q79.62;   NCI:C125698
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome hypermobility type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO DNA:missense mutation: :p.G637S (2512G>A) (human)
ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type
ClinVar PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 PMID:29590070 PMID:30087447 PMID:31531849, PMID:7833919 RGD:11041770 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      Ehlers-Danlos syndrome 116
        Ehlers-Danlos syndrome hypermobility type 3
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      Hemic and Lymphatic Diseases 2175
        hematopoietic system disease 1760
          blood coagulation disease 641
            hemorrhagic disease 631
              vascular hemostatic disease 311
                Ehlers-Danlos syndrome 116
                  Ehlers-Danlos syndrome hypermobility type 3
paths to the root