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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

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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 term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 More... NCBI chrNW_004936562:1,811,479...1,825,857
Ensembl chrNW_004936562:1,816,049...1,825,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      Ehlers-Danlos syndrome 241
        Ehlers-Danlos syndrome spondylodysplastic type 3 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        Neurologic Manifestations 9046
          sensory system disease 6279
            skin disease 3576
              Skin Abnormalities 1226
                Ehlers-Danlos syndrome 241
                  Ehlers-Danlos syndrome spondylodysplastic type 3 1
paths to the root