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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
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome progeroid type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 JBrowse link 5 173,340,060 173,354,756 RGD:8554872
G Agrn agrin JBrowse link 5 173,589,910 173,622,813 RGD:8554872
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
G C1qtnf12 C1q and TNF related 12 JBrowse link 5 173,390,901 173,395,276 RGD:8554872
G Ints11 integrator complex subunit 11 JBrowse link 5 173,318,435 173,336,930 RGD:8554872
G Isg15 ISG15 ubiquitin-like modifier JBrowse link 5 173,624,862 173,629,124 RGD:8554872
G Mir200a microRNA 200a JBrowse link 5 173,489,366 173,489,454 RGD:8554872
G Mir200b microRNA 200b JBrowse link 5 173,490,144 173,490,238 RGD:8554872
G Mir429 microRNA 429 JBrowse link 5 173,488,331 173,488,415 RGD:8554872
G Pusl1 pseudouridine synthase like 1 JBrowse link 5 173,326,755 173,339,934 RGD:8554872
G RGD1311517 similar to RIKEN cDNA 9430015G10 JBrowse link 5 173,542,058 173,559,761 RGD:8554872
G Rnf223 ring finger protein 223 JBrowse link 5 173,561,016 173,566,844 RGD:8554872
G Sdf4 stromal cell derived factor 4 JBrowse link 5 173,425,922 173,444,478 RGD:8554872
G Tnfrsf18 TNF receptor superfamily member 18 JBrowse link 5 173,459,371 173,463,980 RGD:8554872
G Tnfrsf4 TNF receptor superfamily member 4 JBrowse link 5 173,447,784 173,450,474 RGD:8554872
G Ttll10 tubulin tyrosine ligase like 10 JBrowse link 5 173,471,020 173,517,783 RGD:8554872
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 JBrowse link 5 173,372,659 173,387,084 RGD:8554872
Ehlers-Danlos Syndrome, Progeroid Type, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 JBrowse link 5 173,340,060 173,354,756 RGD:8554872
G Agrn agrin JBrowse link 5 173,589,910 173,622,813 RGD:8554872
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:7240710
RGD:8554872
G C1qtnf12 C1q and TNF related 12 JBrowse link 5 173,390,901 173,395,276 RGD:8554872
G Ints11 integrator complex subunit 11 JBrowse link 5 173,318,435 173,336,930 RGD:8554872
G Isg15 ISG15 ubiquitin-like modifier JBrowse link 5 173,624,862 173,629,124 RGD:8554872
G Mir200a microRNA 200a JBrowse link 5 173,489,366 173,489,454 RGD:8554872
G Mir200b microRNA 200b JBrowse link 5 173,490,144 173,490,238 RGD:8554872
G Mir429 microRNA 429 JBrowse link 5 173,488,331 173,488,415 RGD:8554872
G Pusl1 pseudouridine synthase like 1 JBrowse link 5 173,326,755 173,339,934 RGD:8554872
G RGD1311517 similar to RIKEN cDNA 9430015G10 JBrowse link 5 173,542,058 173,559,761 RGD:8554872
G Rnf223 ring finger protein 223 JBrowse link 5 173,561,016 173,566,844 RGD:8554872
G Sdf4 stromal cell derived factor 4 JBrowse link 5 173,425,922 173,444,478 RGD:8554872
G Tnfrsf18 TNF receptor superfamily member 18 JBrowse link 5 173,459,371 173,463,980 RGD:8554872
G Tnfrsf4 TNF receptor superfamily member 4 JBrowse link 5 173,447,784 173,450,474 RGD:8554872
G Ttll10 tubulin tyrosine ligase like 10 JBrowse link 5 173,471,020 173,517,783 RGD:8554872
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 JBrowse link 5 173,372,659 173,387,084 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Ehlers-Danlos syndrome 104
        Ehlers-Danlos syndrome progeroid type 18
          Ehlers-Danlos Syndrome, Progeroid Type, 1 0
          Ehlers-Danlos Syndrome, Progeroid Type, 2 17
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      Hemic and Lymphatic Diseases 1996
        hematopoietic system disease 1595
          blood coagulation disease 604
            hemorrhagic disease 591
              vascular hemostatic disease 297
                Ehlers-Danlos syndrome 104
                  Ehlers-Danlos syndrome progeroid type 18
                    Ehlers-Danlos Syndrome, Progeroid Type, 1 0
                    Ehlers-Danlos Syndrome, Progeroid Type, 2 17
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.