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RGD uses the Human Disease Ontology (DO, 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 1
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Accession:DOID:0080738 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: EDSP1;   EDSSLA;   EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES;   Ehlers-Danlos Syndrome, Progeroid Type, 1;   Galactosyltransferase 1 deficiency;   Galactosyltransferase I Deficiency;   XGPT deficiency;   defective biosynthesis of PDS;   defective biosynthesis of proteodermatan sulfate;   dermatan sulfate proteoglycan;   xylosylprotein 4-beta-galactosyltransferase deficiency
 primary_id: MESH:C536201
 alt_id: OMIM:130070
For additional species annotation, visit the Alliance of Genome Resources.

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Ehlers-Danlos syndrome spondylodysplastic type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO OMIM NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link

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 1 2
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 1 2
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