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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 dermatosparaxis type
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Accession:DOID:0080733 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. (DO)
Synonyms:exact_synonym: EDS VIIC;   EDS7C;   Ehlers-Danlos syndrome type VII, autosomal recessive;   dermatosparaxis
 primary_id: MESH:C567527
 alt_id: OMIM:225410
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome dermatosparaxis type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO DNA:deletions: :
ClinVar Annotator: match by OMIM:225410
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type vii, autosomal recessive
ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type
OMIM
ClinVar
PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:10417273 PMID:15373769 PMID:15389701 PMID:18973246 PMID:23495203 PMID:25741868 PMID:26765342 PMID:28492532, PMID:15373769 RGD:1598738 NCBI chr10:36,098,051...36,304,416
Ensembl chr10:36,098,051...36,304,409
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      Ehlers-Danlos syndrome 104
        Ehlers-Danlos Syndrome Type 7 6
          Ehlers-Danlos syndrome dermatosparaxis type 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2056
        hematopoietic system disease 1639
          blood coagulation disease 623
            hemorrhagic disease 613
              vascular hemostatic disease 297
                Ehlers-Danlos syndrome 104
                  Ehlers-Danlos Syndrome Type 7 6
                    Ehlers-Danlos syndrome dermatosparaxis type 1
paths to the root