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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 spondylodysplastic type 3
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Accession:DOID:0080739 term browser browse the term
Definition:An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. (DO)
Synonyms:exact_synonym: SCD-EDS;   SCDEDS;   spondylocheirodysplasia, Ehlers-Danlos syndrome-like
 primary_id: MESH:C567340
 alt_id: DOID:9002616;   OMIM:612350
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome spondylodysplastic type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by OMIM:612350
ClinVar Annotator: match by null
DNA:deletion:cds:c.483_491del9 (human)
ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
OMIM
ClinVar
PMID:18513683 PMID:18985159 PMID:24033266 PMID:25741868 PMID:28492532, PMID:18513683 RGD:11553863 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Ehlers-Danlos syndrome 104
        Ehlers-Danlos syndrome spondylodysplastic type 3 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2059
        hematopoietic system disease 1642
          blood coagulation disease 624
            hemorrhagic disease 614
              vascular hemostatic disease 297
                Ehlers-Danlos syndrome 104
                  Ehlers-Danlos syndrome spondylodysplastic type 3 1
paths to the root