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ONTOLOGY REPORT - ANNOTATIONS


Term:Ehlers-Danlos syndrome progeroid type
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Accession:DOID:0050802 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. (DO)
Synonyms:exact_synonym: EDSSLA;   EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES;   EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2;   Ehlers-Danlos Syndrome, Progeroid Form;   Galactosyltransferase 1 deficiency;   Galactosyltransferase I Deficiency;   PDS, DEFECTIVE BIOSYNTHESIS OF;   Progeroid variant of Ehlers-Danlos syndrome;   Proteodermatan sulfate, defective biosynthesis of;   XGPT DEFICIENCY;   dermatan sulfate proteoglycan;   xylosylprotein 4-beta-galactosyltransferase deficiency
 primary_id: MESH:C536201
 alt_id: OMIM:130070;   RDO:0001681
 xref: ORDO:75496
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Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:11554173
RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:7240710
RGD:8554872
Ehlers-Danlos Syndrome, Progeroid Type, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Ehlers-Danlos syndrome 86
        Ehlers-Danlos syndrome progeroid type 2
          Ehlers-Danlos Syndrome, Progeroid Type, 1 0
          Ehlers-Danlos Syndrome, Progeroid Type, 2 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          blood coagulation disease 468
            hemorrhagic disease 456
              vascular hemostatic disease 236
                Ehlers-Danlos syndrome 86
                  Ehlers-Danlos syndrome progeroid type 2
                    Ehlers-Danlos Syndrome, Progeroid Type, 1 0
                    Ehlers-Danlos Syndrome, Progeroid Type, 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.